1. Name: BMP4:c.272C>G (p.Ser91Cys) AND Orofacial cleft 11 Gene(s): BMP4 Variation: c.272C>G (p.Ser91Cys) Frequency: GO-ESP: 0.000153775181 Phenotype: Orofacial cleft 11 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 14 Location (GRCh38):54418669 Accession: RCV000019277.26 ID: 2472557 2. Name: BMP4:c.1037C>T (p.Ala346Val) AND Orofacial cleft 11 Gene(s): BMP4 Variation: c.1037C>T (p.Ala346Val) Phenotype: Orofacial cleft 11 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 14 Location (GRCh38):54416940 Accession: RCV000019276.26 ID: 2472556 3. Name: MSX1:c.365G>A (p.Gly122Glu) AND Orofacial cleft 5 Gene(s): MSX1 Variation: c.365G>A (p.Gly122Glu) Phenotype: Orofacial cleft 5 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 4 Location (GRCh38):4861991 Accession: RCV000016013.24 ID: 2470487 4. Name: MSX1:c.251A>T (p.Glu84Val) AND Orofacial cleft 5 Gene(s): MSX1 Variation: c.251A>T (p.Glu84Val) Phenotype: Orofacial cleft 5 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 4 Location (GRCh38):4861877 Accession: RCV000016012.24 ID: 2470486 5. Name: BMP4:c.860G>A (p.Arg287His) AND Orofacial cleft 11 Gene(s): BMP4 Variation: c.860G>A (p.Arg287His) Frequency: GO-ESP: 0.001383976626 Phenotype: Orofacial cleft 11 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 14 Location (GRCh38):54417117 Accession: RCV000019278.22 ID: 2422110 6. Name: CDH1, 1137G-A AND Gastric cancer, familial diffuse, and cleft lip with or without cleft palate Gene(s): CDH1 Phenotype: Gastric cancer, familial diffuse, and cleft lip with or without cleft palate Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000013036.23 ID: 2374558 7. Name: CDH1, IVS4DS, T-A, +2 AND Gastric cancer, familial diffuse, and cleft lip with or without cleft palate Gene(s): CDH1 Phenotype: Gastric cancer, familial diffuse, and cleft lip with or without cleft palate Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000013035.21 ID: 2374557 8. Name: MSX1:c.332C>A (p.Ser111Ter) AND Tooth agenesis, selective, with or without orofacial cleft Gene(s): MSX1 Variation: c.332C>A (p.Ser111Ter) Phenotype: Tooth agenesis, selective, with or without orofacial cleft Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 4 Location (GRCh38):4861958 Accession: RCV000016009.24 ID: 2470483 9. Name: TBX22:c.790A>T (p.Asn264Tyr) AND Cleft palate with ankyloglossia Gene(s): TBX22 Variation: c.790A>T (p.Asn264Tyr) Phenotype: Cleft palate with ankyloglossia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):79282359 Accession: RCV000012089.2 ID: 2467952 10. Name: TBX22:c.641T>C (p.Leu214Pro) AND Cleft palate with ankyloglossia Gene(s): TBX22 Variation: c.641T>C (p.Leu214Pro) Phenotype: Cleft palate with ankyloglossia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):79282210 Accession: RCV000012087.11 ID: 2467951 11. Name: TBX22:c.166G>T (p.Glu56Ter) AND Cleft palate with ankyloglossia Gene(s): TBX22 Variation: c.166G>T (p.Glu56Ter) Phenotype: Cleft palate with ankyloglossia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):79277934 Accession: RCV000012086.2 ID: 2467950 12. Name: TBX22:c.352G>T (p.Gly118Cys) AND Cleft palate with ankyloglossia Gene(s): TBX22 Variation: c.352G>T (p.Gly118Cys) Phenotype: Cleft palate with ankyloglossia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):79278735 Accession: RCV000012083.11 ID: 2467949 13. Name: TP63:c.1054A>G (p.Arg352Gly) AND Orofacial cleft 8 Gene(s): TP63 Variation: c.1054A>G (p.Arg352Gly) Phenotype: Orofacial cleft 8 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):189586430 Accession: RCV000006922.1 ID: 2465127 14. Name: HOXA2:c.556C>A (p.Gln186Lys) AND Microtia, hearing impairment, and cleft palate Gene(s): HOXA2 Variation: c.556C>A (p.Gln186Lys) Phenotype: Microtia, hearing impairment, and cleft palate Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):27140920 Accession: RCV000005738.3 ID: 2464343 15. Name: TP63, ARG227PRO AND Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene(s): TP63 Phenotype: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000023290.1 ID: 2423897 16. Name: TBX22, IVS6, G-C, +1 AND Cleft palate with ankyloglossia Gene(s): TBX22 Phenotype: Cleft palate with ankyloglossia Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000012081.2 ID: 2373627 17. Name: HOXA2:c.703C>T (p.Gln235Ter) AND Microtia, hearing impairment, and cleft palate Gene(s): HOXA2 Variation: c.703C>T (p.Gln235Ter) Phenotype: Microtia, hearing impairment, and cleft palate Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):27140773 Accession: RCV000074433.3 ID: 2513548 18. Name: TP63:c.1028G>A (p.Arg343Gln) AND Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene(s): TP63 Variation: c.1028G>A (p.Arg343Gln) Phenotype: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):189586404 Accession: RCV000006908.1 ID: 2465118 19. Name: TP63:c.1033T>C (p.Cys345Arg) AND Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene(s): TP63 Variation: c.1033T>C (p.Cys345Arg) Phenotype: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):189586409 Accession: RCV000006902.1 ID: 2465113 20. Name: TP63:c.728G>A (p.Arg243Gln) AND Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene(s): TP63 Variation: c.728G>A (p.Arg243Gln) Phenotype: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):189582169 Accession: RCV000006901.1 ID: 2465112 21. Name: BMP4:c.592C>T (p.Arg198Ter) AND Orofacial cleft 11 Gene(s): BMP4 Variation: c.592C>T (p.Arg198Ter) Phenotype: Orofacial cleft 11 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 14 Location (GRCh38):54417385 Accession: RCV000022455.22 ID: 2475075 22. Name: PVRL1:c.554G>A (p.Trp185Ter) AND Cleft lip/palate-ectodermal dysplasia syndrome Gene(s): PVRL1 Variation: c.554G>A (p.Trp185Ter) Phenotype: Cleft lip/palate-ectodermal dysplasia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 11 Location (GRCh38):119548444 Accession: RCV000009531.1 ID: 2466872 23. Name: TBX22:c.779C>T (p.Thr260Met) AND Cleft palate with ankyloglossia Gene(s): TBX22 Variation: c.779C>T (p.Thr260Met) Phenotype: Cleft palate with ankyloglossia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):79282348 Accession: RCV000012082.2 ID: 2467948 24. Name: PVRL1:c.554G>A (p.Trp185Ter) AND Orofacial cleft 7 Gene(s): PVRL1 Variation: c.554G>A (p.Trp185Ter) Phenotype: Orofacial cleft 7 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 11 Location (GRCh38):119548444 Accession: RCV000009532.3 ID: 2466873 25. Name: YAP1:c.1066G>T (p.Glu356Ter) AND Coloboma, uveal, with cleft lip and palate and mental retardation Gene(s): YAP1 Variation: c.1066G>T (p.Glu356Ter) Phenotype: Coloboma, uveal, with cleft lip and palate and mental retardation Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 11 Location (GRCh38):102094386 Accession: RCV000106408.1 ID: 2412430 26. Name: EFTUD2:c.623A>G (p.His208Arg) AND Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Gene(s): EFTUD2 Variation: c.623A>G (p.His208Arg) Phenotype: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 17 Location (GRCh38):42957003 Accession: RCV000033145.2 ID: 2479529 27. Name: TP63:c.953G>A (p.Arg318His) AND Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene(s): TP63 Variation: c.953G>A (p.Arg318His) Phenotype: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):189585692 Accession: RCV000006906.1 ID: 2465116 28. Name: MSX1:c.458C>A (p.Pro153Gln) AND Orofacial cleft 5 Gene(s): MSX1 Variation: c.458C>A (p.Pro153Gln) Phenotype: Orofacial cleft 5 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 4 Location (GRCh38):4862084 Accession: RCV000016014.20 ID: 2470488 29. Name: FGFR1:c.1867G>T (p.Asp623Tyr) AND Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate Gene(s): FGFR1 Variation: c.1867G>T (p.Asp623Tyr) Phenotype: Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):38272407 Accession: RCV000056315.26 ID: 2496291 30. Name: FOXE1:c.304C>T (p.Arg102Cys) AND Hypothyroidism, thyroidal, with spiky hair and cleft palate Gene(s): FOXE1 Variation: c.304C>T (p.Arg102Cys) Phenotype: Hypothyroidism, thyroidal, with spiky hair and cleft palate Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):100616500 Accession: RCV000007404.2 ID: 2465420 31. Name: TP63:c.727C>T (p.Arg243Trp) AND Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene(s): TP63 Variation: c.727C>T (p.Arg243Trp) Phenotype: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):189582168 Accession: RCV000006900.2 ID: 2465111 32. Name: EFTUD2:c.1910T>G (p.Leu637Arg) AND Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Gene(s): EFTUD2 Variation: c.1910T>G (p.Leu637Arg) Phenotype: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 17 Location (GRCh38):42936500 Accession: RCV000023357.2 ID: 2475613 33. Name: TP63:c.1052A>G (p.Asp351Gly) AND Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene(s): TP63 Variation: c.1052A>G (p.Asp351Gly) Phenotype: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):189586428 Accession: RCV000006915.1 ID: 2465123 34. Name: EFTUD2, TYR832TER AND Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Gene(s): EFTUD2 Phenotype: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000024338.2 ID: 2424134 35. Name: EFTUD2, TYR831TER AND Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Gene(s): EFTUD2 Phenotype: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000023356.2 ID: 2423919 36. Name: FGFR1:c.494T>C (p.Leu165Ser) AND Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate Gene(s): FGFR1 Variation: c.494T>C (p.Leu165Ser) Phenotype: Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):38285566 Accession: RCV000056314.26 ID: 2496290 37. Name: FGFR1:c.2174G>A (p.Cys725Tyr) AND Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate Gene(s): FGFR1 Variation: c.2174G>A (p.Cys725Tyr) Phenotype: Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):38271682 Accession: RCV000056313.26 ID: 2496289 38. Name: TBX22, IVS4DS, G-A, +1 AND Cleft palate with ankyloglossia Gene(s): TBX22 Phenotype: Cleft palate with ankyloglossia Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000012084.11 ID: 2373630 39. Name: EFTUD2:c.2770C>T (p.Gln924Ter) AND Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Gene(s): EFTUD2 Variation: c.2770C>T (p.Gln924Ter) Phenotype: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 17 Location (GRCh38):42929131 Accession: RCV000023354.2 ID: 2475612 40. Name: EFTUD2:c.784C>T (p.Arg262Trp) AND Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Gene(s): EFTUD2 Variation: c.784C>T (p.Arg262Trp) Phenotype: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 17 Location (GRCh38):42953387 Accession: RCV000023353.2 ID: 2475611 41. Name: TP63:c.797G>A (p.Arg266Gln) AND Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene(s): TP63 Variation: c.797G>A (p.Arg266Gln) Phenotype: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):189584501 Accession: RCV000006925.1 ID: 2465130 42. Name: STAC3:c.851G>C AND Native American myopathy Gene(s): STAC3 Variation: c.851G>C Frequency: GO-ESP: 0.000230662771 Phenotype: Native American myopathy Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):57638105 Accession: RCV000074400.1 ID: 2513517 43. Name: EIF4A3:c.809A>G (p.Asp270Gly) AND Richieri Costa Pereira syndrome Gene(s): EIF4A3 Variation: c.809A>G (p.Asp270Gly) Phenotype: Richieri Costa Pereira syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 17 Location (GRCh38):78111999 Accession: RCV000087740.2 ID: 2408127 44. Name: FOXE1:c.170G>A (p.Ser57Asn) AND Bamforth syndrome Gene(s): FOXE1 Variation: c.170G>A (p.Ser57Asn) Phenotype: Bamforth syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):100616366 Accession: RCV000007403.2 ID: 2465419 45. Name: ESCO2:c.239C>T (p.Ala80Val) AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Variation: c.239C>T (p.Ala80Val) Frequency: GO-ESP: 0.098723666000, GMAF: 0.1345(T), GMAF: 0.1345 Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Benign Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):27634064 Accession: RCV000020402.1 ID: 2473393 46. Name: ESCO2:c.1674-2A>G AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Variation: c.1674-2A>G Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):27660821 Accession: RCV000020401.1 ID: 2473392 47. Name: ESCO2:c.1354-18G>A AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Variation: c.1354-18G>A Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):27650167 Accession: RCV000020398.1 ID: 2473389 48. Name: ESCO2:c.1263+1G>C AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Variation: c.1263+1G>C Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):27646496 Accession: RCV000020397.1 ID: 2473388 49. Name: ESCO2:c.1132-7A>G AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Variation: c.1132-7A>G Frequency: GO-ESP: 0.000076887590 Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):27646357 Accession: RCV000020396.1 ID: 2473387 50. Name: ESCO2:c.1131+1G>A AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Variation: c.1131+1G>A Frequency: GO-ESP: 0.000076887590 Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):27645520 Accession: RCV000020395.1 ID: 2473386 51. Name: TP63:c.518G>A (p.Gly173Asp) AND ADULT syndrome Gene(s): TP63 Variation: c.518G>A (p.Gly173Asp) Phenotype: ADULT syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):189526254 Accession: RCV000032229.1 ID: 2478908 52. Name: FOXE1:c.194C>T (p.Ala65Val) AND Bamforth syndrome Gene(s): FOXE1 Variation: c.194C>T (p.Ala65Val) Phenotype: Bamforth syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):100616390 Accession: RCV000007402.2 ID: 2465418 53. Name: DDX59, GLY534ARG AND Orofaciodigital syndrome 5 Gene(s): DDX59 Phenotype: Orofaciodigital syndrome 5 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000074348.1 ID: 2404051 54. Name: DDX59:c.1100T>G (p.Val367Gly) AND Orofaciodigital syndrome 5 Gene(s): DDX59 Variation: c.1100T>G (p.Val367Gly) Phenotype: Orofaciodigital syndrome 5 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):200619767 Accession: RCV000074347.1 ID: 2404050 55. Name: ALX3, IVS2, A-T, -2 AND Frontonasal dysplasia Gene(s): ALX3 Phenotype: Frontonasal dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000004905.1 ID: 2366633 56. Name: MBTPS2:c.677G>T (p.Trp226Leu) AND IFAP syndrome with or without BRESHECK syndrome Gene(s): MBTPS2 Variation: c.677G>T (p.Trp226Leu) Phenotype: IFAP syndrome with or without BRESHECK syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):21886591 Accession: RCV000012159.10 ID: 2467993 57. Name: MBTPS2:c.261G>A (p.Met87Ile) AND IFAP syndrome with or without BRESHECK syndrome Gene(s): MBTPS2 Variation: c.261G>A (p.Met87Ile) Phenotype: IFAP syndrome with or without BRESHECK syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):21863325 Accession: RCV000012156.10 ID: 2467990 58. Name: ALX3:c.586C>T (p.Arg196Trp) AND Frontonasal dysplasia Gene(s): ALX3 Variation: c.586C>T (p.Arg196Trp) Frequency: GMAF: 0.0005, GMAF: 0.0005(A) Phenotype: Frontonasal dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):110607217 Accession: RCV000004911.1 ID: 2463843 59. Name: ALX3:c.543T>A (p.Tyr181Ter) AND Frontonasal dysplasia Gene(s): ALX3 Variation: c.543T>A (p.Tyr181Ter) Phenotype: Frontonasal dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):110607260 Accession: RCV000004909.1 ID: 2463841 60. Name: ALX3:c.547C>T (p.Arg183Trp) AND Frontonasal dysplasia Gene(s): ALX3 Variation: c.547C>T (p.Arg183Trp) Phenotype: Frontonasal dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):110607256 Accession: RCV000004908.1 ID: 2463840 61. Name: ALX3:c.608A>G (p.Asn203Ser) AND Frontonasal dysplasia Gene(s): ALX3 Variation: c.608A>G (p.Asn203Ser) Phenotype: Frontonasal dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):110604172 Accession: RCV000004906.1 ID: 2463838 62. Name: FAM20C:c.1093G>C (p.Gly365Arg) AND Raine syndrome Gene(s): FAM20C Variation: c.1093G>C (p.Gly365Arg) Phenotype: Raine syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):295835 Accession: RCV000001078.1 ID: 2461311 63. Name: TP63, PRO127LEU AND ADULT syndrome Gene(s): TP63 Phenotype: ADULT syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000006928.1 ID: 2417265 64. Name: TP63, VAL114MET AND ADULT syndrome Gene(s): TP63 Phenotype: ADULT syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000006921.1 ID: 2417258 65. Name: EPG5:c.6232C>T (p.Arg2078Ter) AND Absent corpus callosum cataract immunodeficiency Gene(s): EPG5 Variation: c.6232C>T (p.Arg2078Ter) Phenotype: Absent corpus callosum cataract immunodeficiency Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 18 Location (GRCh38):43447707 Accession: RCV000033118.1 ID: 2382914 66. Name: EPG5:c.2575G>T (p.Glu859Ter) AND Absent corpus callosum cataract immunodeficiency Gene(s): EPG5 Variation: c.2575G>T (p.Glu859Ter) Phenotype: Absent corpus callosum cataract immunodeficiency Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 18 Location (GRCh38):43505847 Accession: RCV000033117.1 ID: 2382913 67. Name: EPG5:c.3481C>T (p.Arg1161Ter) AND Absent corpus callosum cataract immunodeficiency Gene(s): EPG5 Variation: c.3481C>T (p.Arg1161Ter) Phenotype: Absent corpus callosum cataract immunodeficiency Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 18 Location (GRCh38):43496075 Accession: RCV000033116.1 ID: 2382912 68. Name: FAM20C, PRO314SER AND Raine syndrome Gene(s): FAM20C Phenotype: Raine syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000023863.1 ID: 2380727 69. Name: FAM20C, ASP437ASN AND Raine syndrome Gene(s): FAM20C Phenotype: Raine syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000023860.1 ID: 2380724 70. Name: FAM20C, IVS8, G-A, -1 AND Raine syndrome Gene(s): FAM20C Phenotype: Raine syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000001085.1 ID: 2362899 71. Name: FAM20C, IVS4, G-C, +5 AND Raine syndrome Gene(s): FAM20C Phenotype: Raine syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000001084.1 ID: 2362898 72. Name: FAM20C, IVS7, A-G, -2 AND Raine syndrome Gene(s): FAM20C Phenotype: Raine syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000001083.1 ID: 2362897 73. Name: ESCO2:c.1269G>A (p.Trp423Ter) AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Variation: c.1269G>A (p.Trp423Ter) Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 8 Location (GRCh38):27649485 Accession: RCV000001809.1 ID: 2461771 74. Name: ESCO2:c.505C>T (p.Arg169Ter) AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Variation: c.505C>T (p.Arg169Ter) Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 8 Location (GRCh38):27634330 Accession: RCV000001806.1 ID: 2461768 75. Name: ESCO2:c.604C>T (p.Gln202Ter) AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Variation: c.604C>T (p.Gln202Ter) Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 8 Location (GRCh38):27634429 Accession: RCV000001810.1 ID: 2461772 76. Name: ESCO2:c.1615T>G (p.Trp539Gly) AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Variation: c.1615T>G (p.Trp539Gly) Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 8 Location (GRCh38):27657175 Accession: RCV000001805.1 ID: 2461767 77. Name: ALX3:c.502C>G (p.Leu168Val) AND Frontonasal dysplasia Gene(s): ALX3 Variation: c.502C>G (p.Leu168Val) Phenotype: Frontonasal dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):110607301 Accession: RCV000004907.1 ID: 2463839 78. Name: MBTPS2:c.680A>T (p.His227Leu) AND IFAP syndrome with or without BRESHECK syndrome Gene(s): MBTPS2 Variation: c.680A>T (p.His227Leu) Phenotype: IFAP syndrome with or without BRESHECK syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):21886594 Accession: RCV000012155.11 ID: 2467989 79. Name: MBTPS2:c.671-9T>G AND IFAP syndrome with or without BRESHECK syndrome Gene(s): MBTPS2 Variation: c.671-9T>G Phenotype: IFAP syndrome with or without BRESHECK syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):21886576 Accession: RCV000114758.1 ID: 2414059 80. Name: EDN1:c.249T>G (p.Tyr83Ter) AND Question mark ears, isolated Gene(s): EDN1 Variation: c.249T>G (p.Tyr83Ter) Phenotype: Question mark ears, isolated Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):12294189 Accession: RCV000106315.1 ID: 2412343 81. Name: EDN1:c.191T>A (p.Val64Asp) AND Question mark ears, isolated Gene(s): EDN1 Variation: c.191T>A (p.Val64Asp) Phenotype: Question mark ears, isolated Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):12292700 Accession: RCV000106314.1 ID: 2412342 82. Name: EPG5:c.4588C>T (p.Gln1530Ter) AND Absent corpus callosum cataract immunodeficiency Gene(s): EPG5 Variation: c.4588C>T (p.Gln1530Ter) Phenotype: Absent corpus callosum cataract immunodeficiency Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 18 Location (GRCh38):43481019 Accession: RCV000033114.1 ID: 2382910 83. Name: FAM20C, IVS4, C-G, -3 AND Raine syndrome Gene(s): FAM20C Phenotype: Raine syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000001081.1 ID: 2362895 84. Name: FAM20C, ARG535TRP AND Raine syndrome Gene(s): FAM20C Phenotype: Raine syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000001080.1 ID: 2362894 85. Name: FAM20C, LEU374ARG AND Raine syndrome Gene(s): FAM20C Phenotype: Raine syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000001079.1 ID: 2362893 86. Name: IRF6:c.145C>T (p.Gln49Ter) AND Van der Woude syndrome Gene(s): IRF6 Variation: c.145C>T (p.Gln49Ter) Phenotype: Van der Woude syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):209974614 Accession: RCV000033164.1 ID: 2479541 87. Name: IRF6:c.1271C>T (p.Ser424Leu) AND Popliteal pterygium syndrome Gene(s): IRF6 Variation: c.1271C>T (p.Ser424Leu) Phenotype: Popliteal pterygium syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):209961898 Accession: RCV000023631.1 ID: 2475782 88. Name: IRF6:c.65T>C (p.Leu22Pro) AND Popliteal pterygium syndrome Gene(s): IRF6 Variation: c.65T>C (p.Leu22Pro) Phenotype: Popliteal pterygium syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):209974694 Accession: RCV000023629.1 ID: 2475780 89. Name: IRF6:c.65T>C (p.Leu22Pro) AND Van der Woude syndrome Gene(s): IRF6 Variation: c.65T>C (p.Leu22Pro) Phenotype: Van der Woude syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):209974694 Accession: RCV000023628.1 ID: 2475779 90. Name: IRF6:c.1016G>T (p.Arg339Ile) AND Popliteal pterygium syndrome Gene(s): IRF6 Variation: c.1016G>T (p.Arg339Ile) Phenotype: Popliteal pterygium syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):209963884 Accession: RCV000023627.1 ID: 2475778 91. Name: MBTPS2:c.1286G>A (p.Arg429His) AND IFAP syndrome with or without BRESHECK syndrome Gene(s): MBTPS2 Variation: c.1286G>A (p.Arg429His) Phenotype: IFAP syndrome with or without BRESHECK syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):21899039 Accession: RCV000012157.16 ID: 2467991 92. Name: IRF6:c.1016G>T (p.Arg339Ile) AND Van der Woude syndrome Gene(s): IRF6 Variation: c.1016G>T (p.Arg339Ile) Phenotype: Van der Woude syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):209963884 Accession: RCV000003592.1 ID: 2462950 93. Name: IRF6:c.1186C>T (p.Pro396Ser) AND Van der Woude syndrome Gene(s): IRF6 Variation: c.1186C>T (p.Pro396Ser) Phenotype: Van der Woude syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):209961983 Accession: RCV000003591.1 ID: 2462949 94. Name: IRF6:c.134G>A (p.Arg45Gln) AND Van der Woude syndrome Gene(s): IRF6 Variation: c.134G>A (p.Arg45Gln) Frequency: GMAF: 0.0005(T), GMAF: 0.0005 Phenotype: Van der Woude syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):209974625 Accession: RCV000003590.1 ID: 2462948 95. Name: IRF6:c.16C>T (p.Arg6Cys) AND Van der Woude syndrome Gene(s): IRF6 Variation: c.16C>T (p.Arg6Cys) Phenotype: Van der Woude syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):209974743 Accession: RCV000003586.1 ID: 2462945 96. Name: IRF6:c.251G>A (p.Arg84His) AND Popliteal pterygium syndrome Gene(s): IRF6 Variation: c.251G>A (p.Arg84His) Phenotype: Popliteal pterygium syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):209969821 Accession: RCV000003584.1 ID: 2462943 97. Name: IRF6:c.250C>T (p.Arg84Cys) AND Popliteal pterygium syndrome Gene(s): IRF6 Variation: c.250C>T (p.Arg84Cys) Phenotype: Popliteal pterygium syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):209969822 Accession: RCV000003583.1 ID: 2462942 98. Name: IRF6:c.1177C>T (p.Gln393Ter) AND Popliteal pterygium syndrome Gene(s): IRF6 Variation: c.1177C>T (p.Gln393Ter) Phenotype: Popliteal pterygium syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):209963014 Accession: RCV000003582.1 ID: 2462941 99. Name: IRF6, ARG400GLN AND Van der Woude syndrome Gene(s): IRF6 Phenotype: Van der Woude syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000087748.2 ID: 2449371 100. Name: TP63:c.1009C>G (p.Arg337Gly) AND ADULT syndrome Gene(s): TP63 Variation: c.1009C>G (p.Arg337Gly) Phenotype: ADULT syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 3 Location (GRCh38):189586385 Accession: RCV000006923.1 ID: 2465128 101. Name: TP63:c.16A>C (p.Asn6His) AND ADULT syndrome Gene(s): TP63 Variation: c.16A>C (p.Asn6His) Phenotype: ADULT syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 3 Location (GRCh38):189507605 Accession: RCV000006911.1 ID: 2465121 102. Name: IRF6:c.251G>T (p.Arg84Leu) AND Popliteal pterygium syndrome Gene(s): IRF6 Variation: c.251G>T (p.Arg84Leu) Phenotype: Popliteal pterygium syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):209969821 Accession: RCV000023630.1 ID: 2475781 103. Name: TP63:c.1646T>C (p.Ile549Thr) AND Hay-Wells syndrome of ectodermal dysplasia Gene(s): TP63 Variation: c.1646T>C (p.Ile549Thr) Phenotype: Hay-Wells syndrome of ectodermal dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):189607267 Accession: RCV000006918.1 ID: 2465124 104. Name: TP63:c.1681T>G (p.Cys561Gly) AND Hay-Wells syndrome of ectodermal dysplasia Gene(s): TP63 Variation: c.1681T>G (p.Cys561Gly) Phenotype: Hay-Wells syndrome of ectodermal dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):189608606 Accession: RCV000006910.1 ID: 2465120 105. Name: IRF6:c.1198C>T (p.Arg400Trp) AND Van der Woude syndrome Gene(s): IRF6 Variation: c.1198C>T (p.Arg400Trp) Phenotype: Van der Woude syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):209961971 Accession: RCV000003588.2 ID: 2462947 106. Name: IRF6:c.1137G>A (p.Trp379Ter) AND Van der Woude syndrome Gene(s): IRF6 Variation: c.1137G>A (p.Trp379Ter) Phenotype: Van der Woude syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):209963054 Accession: RCV000003587.2 ID: 2462946 107. Name: IRF6:c.5C>T (p.Ala2Val) AND Van der Woude syndrome Gene(s): IRF6 Variation: c.5C>T (p.Ala2Val) Phenotype: Van der Woude syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):209974754 Accession: RCV000003585.1 ID: 2462944 108. Name: IRF6:c.274G>T (p.Glu92Ter) AND Van der Woude syndrome Gene(s): IRF6 Variation: c.274G>T (p.Glu92Ter) Phenotype: Van der Woude syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):209969798 Accession: RCV000003580.1 ID: 2462940 109. Name: MBTPS2:c.1424T>C (p.Phe475Ser) AND IFAP syndrome with or without BRESHECK syndrome Gene(s): MBTPS2 Variation: c.1424T>C (p.Phe475Ser) Phenotype: IFAP syndrome with or without BRESHECK syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):21900637 Accession: RCV000012158.2 ID: 2467992 110. Name: TP63:c.1659A>T (p.Leu553Phe) AND Hay-Wells syndrome of ectodermal dysplasia Gene(s): TP63 Variation: c.1659A>T (p.Leu553Phe) Phenotype: Hay-Wells syndrome of ectodermal dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):189608584 Accession: RCV000006909.1 ID: 2465119 111. Name: TP63:c.1010G>A (p.Arg337Gln) AND ADULT syndrome Gene(s): TP63 Variation: c.1010G>A (p.Arg337Gln) Phenotype: ADULT syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 3 Location (GRCh38):189586386 Accession: RCV000006914.1 ID: 2465122 112. Name: TP63:c.797G>A (p.Arg266Gln) AND ADULT syndrome Gene(s): TP63 Variation: c.797G>A (p.Arg266Gln) Phenotype: ADULT syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):189584501 Accession: RCV000006926.1 ID: 2465131 113. Name: NC_000006.12:g.9937904A>T AND Lung cancer Gene(s): OFCC1 Phenotype: Lung cancer Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):9938137 Accession: RCV000097334.1 ID: 2340141 114. Name: NC_000006.12:g.9862380T>C AND Lung cancer Gene(s): OFCC1 Phenotype: Lung cancer Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):9862613 Accession: RCV000097326.1 ID: 2340133 115. Name: NC_000006.12:g.9843469A>G AND Lung cancer Gene(s): OFCC1 Phenotype: Lung cancer Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):9843702 Accession: RCV000097324.1 ID: 2340131 116. Name: NC_000006.12:g.9724472C>A AND Lung cancer Gene(s): OFCC1 Phenotype: Lung cancer Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):9724705 Accession: RCV000097307.1 ID: 2340114 117. Name: NC_000006.12:g.10201639A>T AND Lung cancer Gene(s): OFCC1 Phenotype: Lung cancer Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):10201872 Accession: RCV000096377.1 ID: 2339184 118. Name: NC_000006.12:g.10079464T>C AND Lung cancer Gene(s): OFCC1 Phenotype: Lung cancer Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):10079697 Accession: RCV000096367.1 ID: 2339174 119. Name: PDGFRA:c.3155C>T (p.Thr1052Met) AND Variant of unknown significance Gene(s): PDGFRA Variation: c.3155C>T (p.Thr1052Met) Phenotype: Variant of unknown significance Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 4 Location (GRCh38):55161324 Accession: RCV000032819.2 ID: 2479334 120. Name: PDGFRA:c.1631T>C (p.Val544Ala) AND Variant of unknown significance Gene(s): PDGFRA Variation: c.1631T>C (p.Val544Ala) Frequency: GMAF: 0.0014, GMAF: 0.0014(C) Phenotype: Variant of unknown significance Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 4 Location (GRCh38):55140770 Accession: RCV000032818.2 ID: 2479333 121. Name: PDGFRA:c.1202C>A (p.Ala401Asp) AND Variant of unknown significance Gene(s): PDGFRA Variation: c.1202C>A (p.Ala401Asp) Phenotype: Variant of unknown significance Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 4 Location (GRCh38):55136880 Accession: RCV000032817.2 ID: 2479332 122. Name: FGFR1:c.1825C>T (p.Arg609Ter) AND HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO Gene(s): FGFR1 Variation: c.1825C>T (p.Arg609Ter) Phenotype: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO Clinical Significance: risk factor Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):38273417 Accession: RCV000030934.1 ID: 2477816 123. Name: TCTN3:c.1327C>T (p.Gln443Ter) AND Orofacial-digital syndrome IV Gene(s): TCTN3 Variation: c.1327C>T (p.Gln443Ter) Phenotype: Orofacial-digital syndrome IV Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 10 Location (GRCh38):97442533 Accession: RCV000030712.1 ID: 2477686 124. Name: ALX1:c.531+1G>A AND Frontonasal dysplasia 3 Gene(s): ALX1 Variation: c.531+1G>A Phenotype: Frontonasal dysplasia 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):85677655 Accession: RCV000008579.3 ID: 2466224 125. Name: TP63:c.1738T>C (p.Ser580Pro) AND Rapp-Hodgkin ectodermal dysplasia syndrome Gene(s): TP63 Variation: c.1738T>C (p.Ser580Pro) Phenotype: Rapp-Hodgkin ectodermal dysplasia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):189608663 Accession: RCV000006920.1 ID: 2465126 126. Name: ALX4:c.793C>T (p.Arg265Ter) AND Frontonasal dysplasia 2 Gene(s): ALX4 Variation: c.793C>T (p.Arg265Ter) Phenotype: Frontonasal dysplasia 2 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 11 Location (GRCh38):44289157 Accession: RCV000005323.1 ID: 2464103 127. Name: COL2A1, IVS24, G-A, +5 AND Kniest dysplasia Gene(s): COL2A1 Phenotype: Kniest dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000018919.26 ID: 2422006 128. Name: GRHL3, ARG391CYS AND Van der Woude syndrome 2 Gene(s): GRHL3 Phenotype: Van der Woude syndrome 2 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000087753.2 ID: 2408140 129. Name: GRHL3, IVS11, G-T, +1 AND Van der Woude syndrome 2 Gene(s): GRHL3 Phenotype: Van der Woude syndrome 2 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000087752.2 ID: 2408139 130. Name: MEOX1, ARG222TER AND Klippel-Feil syndrome 2, autosomal recessive Gene(s): MEOX1 Phenotype: Klippel-Feil syndrome 2, autosomal recessive Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000032704.3 ID: 2382503 131. Name: TCTN3, GLN480TER AND Orofacial-digital syndrome IV Gene(s): TCTN3 Phenotype: Orofacial-digital syndrome IV Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000030710.1 ID: 2381611 132. Name: PGM1:c.787G>T (p.Asp263Tyr) AND Congenital disorder of glycosylation type 1t Gene(s): PGM1 Variation: c.787G>T (p.Asp263Tyr) Phenotype: Congenital disorder of glycosylation type 1t Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):64100604 Accession: RCV000119802.1 ID: 2538443 133. Name: PGM1:c.184G>C (p.Asp62His) AND Congenital disorder of glycosylation type 1t Gene(s): PGM1 Variation: c.184G>C (p.Asp62His) Phenotype: Congenital disorder of glycosylation type 1t Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):64059343 Accession: RCV000119801.1 ID: 2538441 134. Name: PGM1:c.112A>T (p.Asn38Tyr) AND Congenital disorder of glycosylation type 1t Gene(s): PGM1 Variation: c.112A>T (p.Asn38Tyr) Phenotype: Congenital disorder of glycosylation type 1t Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):64059271 Accession: RCV000119800.1 ID: 2538439 135. Name: PGM1:c.1547T>C (p.Leu516Pro) AND Congenital disorder of glycosylation type 1t Gene(s): PGM1 Variation: c.1547T>C (p.Leu516Pro) Phenotype: Congenital disorder of glycosylation type 1t Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):64120085 Accession: RCV000119799.1 ID: 2538437 136. Name: TACR3:c.766T>C (p.Tyr256His) AND Hypogonadotropic hypogonadism 11 with or without anosmia Gene(s): TACR3 Variation: c.766T>C (p.Tyr256His) Phenotype: Hypogonadotropic hypogonadism 11 with or without anosmia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 4 Location (GRCh38):104577473 Accession: RCV000056320.22 ID: 2496295 137. Name: CASR:c.662C>T (p.Pro221Leu) AND Hypocalcemia, autosomal dominant 1 Gene(s): CASR Variation: c.662C>T (p.Pro221Leu) Phenotype: Hypocalcemia, autosomal dominant 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):121980544 Accession: RCV000054481.1 ID: 2494961 138. Name: KDM6A:c.1555C>T (p.Arg519Ter) AND Kabuki syndrome 2 Gene(s): KDM6A Variation: c.1555C>T (p.Arg519Ter) Phenotype: Kabuki syndrome 2 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):44922694 Accession: RCV000033120.16 ID: 2479514 139. Name: KDM6A:c.3717G>A (p.Trp1239Ter) AND Kabuki syndrome 2 Gene(s): KDM6A Variation: c.3717G>A (p.Trp1239Ter) Phenotype: Kabuki syndrome 2 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):44949156 Accession: RCV000033119.22 ID: 2479513 140. Name: PGM1:c.1507C>T (p.Arg503_Thr562del) AND Congenital disorder of glycosylation type 1t Gene(s): PGM1 Variation: c.1507C>T (p.Arg503_Thr562del) Phenotype: Congenital disorder of glycosylation type 1t Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):64120045 Accession: RCV000032991.24 ID: 2479428 141. Name: FGFR1:c.2164C>T (p.Pro722Ser) AND HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA Gene(s): FGFR1 Variation: c.2164C>T (p.Pro722Ser) Phenotype: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):38271692 Accession: RCV000030937.26 ID: 2477818 142. Name: FGFR1:c.499G>T (p.Ala167Ser) AND HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA Gene(s): FGFR1 Variation: c.499G>T (p.Ala167Ser) Phenotype: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):38285561 Accession: RCV000030929.26 ID: 2477811 143. Name: VAX1:c.454C>A (p.Arg152Ser) AND Microphthalmia, syndromic 11 Gene(s): VAX1 Variation: c.454C>A (p.Arg152Ser) Phenotype: Microphthalmia, syndromic 11 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 10 Location (GRCh38):118894070 Accession: RCV000030635.1 ID: 2477634 144. Name: CDON:c.2368A>G (p.Thr790Ala) AND Holoprosencephaly 11 Gene(s): CDON Variation: c.2368A>G (p.Thr790Ala) Phenotype: Holoprosencephaly 11 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 11 Location (GRCh38):125864942 Accession: RCV000023728.1 ID: 2475823 145. Name: GATA4:c.1037C>T (p.Ala346Val) AND Atrioventricular septal defect 4 Gene(s): GATA4 Variation: c.1037C>T (p.Ala346Val) Frequency: GO-ESP: 0.002383515301, GMAF: 0.0005(T), GMAF: 0.0005 Phenotype: Atrioventricular septal defect 4 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):11614483 Accession: RCV000023005.1 ID: 2475414 146. Name: CHRNA1:c.761G>T (p.Arg254Leu) AND Lethal multiple pterygium syndrome Gene(s): CHRNA1 Variation: c.761G>T (p.Arg254Leu) Phenotype: Lethal multiple pterygium syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 2 Location (GRCh38):175618323 Accession: RCV000020056.26 ID: 2473110 147. Name: CHRND:c.1390C>T (p.Arg464Ter) AND Lethal multiple pterygium syndrome Gene(s): CHRND Variation: c.1390C>T (p.Arg464Ter) Frequency: GO-ESP: 0.000076887590 Phenotype: Lethal multiple pterygium syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 2 Location (GRCh38):233399858 Accession: RCV000020038.25 ID: 2473095 148. Name: CHRND:c.283T>C (p.Phe95Leu) AND Lethal multiple pterygium syndrome Gene(s): CHRND Variation: c.283T>C (p.Phe95Leu) Phenotype: Lethal multiple pterygium syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 2 Location (GRCh38):233393011 Accession: RCV000020037.26 ID: 2473094 149. Name: CHRND:c.234G>A (p.Trp78Ter) AND Lethal multiple pterygium syndrome Gene(s): CHRND Variation: c.234G>A (p.Trp78Ter) Phenotype: Lethal multiple pterygium syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 2 Location (GRCh38):233392146 Accession: RCV000020036.25 ID: 2473093 150. Name: CHRNG:c.320T>G (p.Val107Gly) AND Lethal multiple pterygium syndrome Gene(s): CHRNG Variation: c.320T>G (p.Val107Gly) Phenotype: Lethal multiple pterygium syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 2 Location (GRCh38):233405391 Accession: RCV000020008.26 ID: 2473078 151. Name: CHRNG:c.715C>T (p.Arg239Cys) AND Lethal multiple pterygium syndrome Gene(s): CHRNG Variation: c.715C>T (p.Arg239Cys) Phenotype: Lethal multiple pterygium syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 2 Location (GRCh38):233407702 Accession: RCV000020004.26 ID: 2473075 152. Name: COL2A1:c.170G>A (p.Cys57Tyr) AND STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR Gene(s): COL2A1 Variation: c.170G>A (p.Cys57Tyr) Phenotype: STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):48393824 Accession: RCV000018946.26 ID: 2472325 153. Name: COL2A1:c.192C>A (p.Cys64Ter) AND STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR Gene(s): COL2A1 Variation: c.192C>A (p.Cys64Ter) Phenotype: STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):48393802 Accession: RCV000018945.26 ID: 2472324 154. Name: COL2A1:c.141G>A (p.Trp47Ter) AND STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR Gene(s): COL2A1 Variation: c.141G>A (p.Trp47Ter) Phenotype: STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):48393853 Accession: RCV000018944.26 ID: 2472323 155. Name: COL2A1:c.4316C>T (p.Thr1439Met) AND Spondyloepiphyseal dysplasia congenita Gene(s): COL2A1 Variation: c.4316C>T (p.Thr1439Met) Phenotype: Spondyloepiphyseal dysplasia congenita Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):48367873 Accession: RCV000018928.22 ID: 2472312 156. Name: COL2A1:c.3517G>C (p.Gly1173Arg) AND Spondyloepiphyseal dysplasia congenita Gene(s): COL2A1 Variation: c.3517G>C (p.Gly1173Arg) Phenotype: Spondyloepiphyseal dysplasia congenita Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):48369826 Accession: RCV000018924.26 ID: 2472309 157. Name: COL2A1:c.908G>A (p.Gly303Asp) AND Kniest dysplasia Gene(s): COL2A1 Variation: c.908G>A (p.Gly303Asp) Phenotype: Kniest dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):48387608 Accession: RCV000018914.26 ID: 2472304 158. Name: COL2A1:c.3589G>A (p.Gly1197Ser) AND Spondyloepiphyseal dysplasia congenita Gene(s): COL2A1 Variation: c.3589G>A (p.Gly1197Ser) Phenotype: Spondyloepiphyseal dysplasia congenita Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):48369754 Accession: RCV000018905.22 ID: 2472297 159. Name: COL2A1:c.3158G>A (p.Gly1053Glu) AND Hypochondrogenesis Gene(s): COL2A1 Variation: c.3158G>A (p.Gly1053Glu) Phenotype: Hypochondrogenesis Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):48371390 Accession: RCV000018903.22 ID: 2472295 160. Name: COL2A1:c.2320G>A (p.Gly774Ser) AND Hypochondrogenesis Gene(s): COL2A1 Variation: c.2320G>A (p.Gly774Ser) Phenotype: Hypochondrogenesis Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):48375925 Accession: RCV000018901.26 ID: 2472294 161. Name: COL11A2:c.2492C>A (p.Ser831Ter) AND Otospondylomegaepiphyseal dysplasia Gene(s): COL11A2 Variation: c.2492C>A (p.Ser831Ter) Phenotype: Otospondylomegaepiphyseal dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):33141825 Accession: RCV000018664.26 ID: 2472153 162. Name: PHF8:c.836T>C (p.Phe279Ser) AND Siderius X-linked mental retardation syndrome Gene(s): PHF8 Variation: c.836T>C (p.Phe279Ser) Phenotype: Siderius X-linked mental retardation syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):54037665 Accession: RCV000011547.1 ID: 2467705 163. Name: PHF8:c.529A>T (p.Lys177Ter) AND Siderius X-linked mental retardation syndrome Gene(s): PHF8 Variation: c.529A>T (p.Lys177Ter) Phenotype: Siderius X-linked mental retardation syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):54043095 Accession: RCV000011546.6 ID: 2467704 164. Name: PHF8:c.631C>T (p.Arg211Ter) AND Siderius X-linked mental retardation syndrome Gene(s): PHF8 Variation: c.631C>T (p.Arg211Ter) Phenotype: Siderius X-linked mental retardation syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):54040962 Accession: RCV000011545.3 ID: 2467703 165. Name: GDF6:c.125G>T (p.Gly42Val) AND Klippel-Feil syndrome 1, autosomal dominant Gene(s): GDF6 Variation: c.125G>T (p.Gly42Val) Frequency: GO-ESP: 0.001692568087, GMAF: 0.0023, GMAF: 0.0023(A) Phenotype: Klippel-Feil syndrome 1, autosomal dominant Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):97172796 Accession: RCV000008880.1 ID: 2466430 166. Name: GDF6:c.1271A>G (p.Lys424Arg) AND Klippel-Feil syndrome 1, autosomal dominant Gene(s): GDF6 Variation: c.1271A>G (p.Lys424Arg) Frequency: GMAF: 0.0009(C), GMAF: 0.0009 Phenotype: Klippel-Feil syndrome 1, autosomal dominant Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):97156888 Accession: RCV000008879.1 ID: 2466429 167. Name: GDF6:c.866T>C (p.Leu289Pro) AND Klippel-Feil syndrome 1, autosomal dominant Gene(s): GDF6 Variation: c.866T>C (p.Leu289Pro) Frequency: GO-ESP: 0.000442967885 Phenotype: Klippel-Feil syndrome 1, autosomal dominant Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):97157293 Accession: RCV000008878.1 ID: 2466428 168. Name: RECQL4:c.806G>A (p.Trp269Ter) AND Rapadilino syndrome Gene(s): RECQL4 Variation: c.806G>A (p.Trp269Ter) Phenotype: Rapadilino syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):145741697 Accession: RCV000006444.1 ID: 2464796 169. Name: SOX9:c.517A>G (p.Lys173Glu) AND Acampomelic campomelic dysplasia Gene(s): SOX9 Variation: c.517A>G (p.Lys173Glu) Phenotype: Acampomelic campomelic dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 17 Location (GRCh38):70118945 Accession: RCV000002618.1 ID: 2462305 170. Name: COL2A1, IVS10AS, A-G, -2 AND Otospondylomegaepiphyseal dysplasia Gene(s): COL2A1 Phenotype: Otospondylomegaepiphyseal dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000018942.22 ID: 2422029 171. Name: COL2A1, IVS20, A-G, -2 AND Kniest dysplasia Gene(s): COL2A1 Phenotype: Kniest dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000018913.22 ID: 2422000 172. Name: IFT172:c.4630C>T (p.Arg1544Cys) AND SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY Gene(s): IFT172 Variation: c.4630C>T (p.Arg1544Cys) Phenotype: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 2 Location (GRCh38):27670411 Accession: RCV000083270.2 ID: 2404715 173. Name: WDR11, PHE1150LEU AND Hypogonadotropic hypogonadism 14 with or without anosmia Gene(s): WDR11 Phenotype: Hypogonadotropic hypogonadism 14 with or without anosmia Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000030848.1 ID: 2381738 174. Name: MEGF10, TYR1048TER AND Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene(s): MEGF10 Phenotype: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000023953.1 ID: 2380816 175. Name: RECQL4, GLU1091TER AND Rapadilino syndrome Gene(s): RECQL4 Phenotype: Rapadilino syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000006443.1 ID: 2368132 176. Name: OFD1:c.-296G>T AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.-296G>T Frequency: GMAF: 0.3349, GMAF: 0.3349(T) Phenotype: Oral-facial-digital syndrome Clinical Significance: Benign Review Status: classified by single submitter Chromosome: X Location (GRCh38):13752895 Accession: RCV000034056.2 ID: 2479943 177. Name: OFD1:c.871A>T (p.Lys291Ter) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.871A>T (p.Lys291Ter) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13767588 Accession: RCV000034051.2 ID: 2479939 178. Name: OFD1:c.823C>T (p.Gln275Ter) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.823C>T (p.Gln275Ter) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13765067 Accession: RCV000034045.2 ID: 2479933 179. Name: OFD1:c.654+29G>A AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.654+29G>A Phenotype: Oral-facial-digital syndrome Clinical Significance: Benign Review Status: classified by single submitter Chromosome: X Location (GRCh38):13764603 Accession: RCV000034034.2 ID: 2479924 180. Name: OFD1:c.628C>T (p.Gln210Ter) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.628C>T (p.Gln210Ter) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13764548 Accession: RCV000034031.2 ID: 2479922 181. Name: OFD1:c.454C>T (p.Gln152Ter) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.454C>T (p.Gln152Ter) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13762575 Accession: RCV000034025.2 ID: 2479917 182. Name: OFD1:c.431T>A (p.Leu144Ter) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.431T>A (p.Leu144Ter) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13762552 Accession: RCV000034021.2 ID: 2479914 183. Name: OFD1:c.412G>A (p.Gly138Ser) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.412G>A (p.Gly138Ser) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13757151 Accession: RCV000034019.2 ID: 2479913 184. Name: OFD1:c.382-3C>G AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.382-3C>G Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13757118 Accession: RCV000034015.2 ID: 2479910 185. Name: OFD1:c.382-2A>G AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.382-2A>G Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13757119 Accession: RCV000034014.2 ID: 2479909 186. Name: OFD1:c.372C>G (p.Tyr124Ter) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.372C>G (p.Tyr124Ter) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13757024 Accession: RCV000034012.2 ID: 2479908 187. Name: OFD1:c.337C>T (p.Gln113Ter) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.337C>T (p.Gln113Ter) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13756989 Accession: RCV000034011.2 ID: 2479907 188. Name: OFD1:c.290A>G (p.Glu97Gly) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.290A>G (p.Glu97Gly) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13754775 Accession: RCV000034006.2 ID: 2479904 189. Name: OFD1:c.274T>C (p.Ser92Pro) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.274T>C (p.Ser92Pro) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13754759 Accession: RCV000034003.2 ID: 2479901 190. Name: OFD1:c.260A>G (p.Tyr87Cys) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.260A>G (p.Tyr87Cys) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13754745 Accession: RCV000034002.2 ID: 2479900 191. Name: OFD1:c.247C>T (p.Gln83Ter) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.247C>T (p.Gln83Ter) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13754732 Accession: RCV000034001.2 ID: 2479899 192. Name: OFD1:c.243C>G (p.His81Gln) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.243C>G (p.His81Gln) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13754728 Accession: RCV000034000.2 ID: 2479898 193. Name: OFD1:c.241C>G (p.His81Asp) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.241C>G (p.His81Asp) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13754726 Accession: RCV000033999.2 ID: 2479897 194. Name: OFD1:c.235G>A (p.Ala79Thr) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.235G>A (p.Ala79Thr) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13754720 Accession: RCV000033998.2 ID: 2479896 195. Name: OFD1:c.2261-1G>T AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.2261-1G>T Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13779203 Accession: RCV000033995.2 ID: 2479894 196. Name: OFD1:c.224A>C (p.Asn75Thr) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.224A>C (p.Asn75Thr) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13754709 Accession: RCV000033994.2 ID: 2479893 197. Name: OFD1:c.221C>T (p.Ser74Phe) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.221C>T (p.Ser74Phe) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13754706 Accession: RCV000033993.2 ID: 2479892 198. Name: OFD1:c.1923G>A (p.Glu641Glu=) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1923G>A (p.Glu641Glu=) Frequency: GO-ESP: 0.004638833665, GMAF: 0.0030, GMAF: 0.0030(A) Phenotype: Oral-facial-digital syndrome Clinical Significance: Benign Review Status: classified by single submitter Chromosome: X Location (GRCh38):13778502 Accession: RCV000033987.2 ID: 2479886 199. Name: OFD1:c.1420C>T (p.Gln474Ter) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1420C>T (p.Gln474Ter) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13775787 Accession: RCV000033979.2 ID: 2479879 200. Name: OFD1:c.1358T>A (p.Leu453Ter) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1358T>A (p.Leu453Ter) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13774833 Accession: RCV000033976.2 ID: 2479876 201. Name: OFD1:c.121C>T (p.Arg41Ter) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.121C>T (p.Arg41Ter) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13754606 Accession: RCV000033965.2 ID: 2479869 202. Name: OFD1:c.111G>C (p.Lys37Asn) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.111G>C (p.Lys37Asn) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13753465 Accession: RCV000033960.2 ID: 2479865 203. Name: OFD1:c.111G>A (p.Lys37Lys=) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.111G>A (p.Lys37Lys=) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13753465 Accession: RCV000033959.2 ID: 2479864 204. Name: TRAPPC2:c.-985A>G AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.-985A>G Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13753467 Accession: RCV000033957.2 ID: 2479863 205. Name: OFD1:c.1100G>A (p.Arg367Gln) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1100G>A (p.Arg367Gln) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13771531 Accession: RCV000033956.2 ID: 2479862 206. Name: OFD1:c.1099C>T (p.Arg367Ter) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1099C>T (p.Arg367Ter) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13771530 Accession: RCV000033955.2 ID: 2479861 207. Name: OFD1:c.1056-2A>T AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1056-2A>T Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13771485 Accession: RCV000033952.2 ID: 2479859 208. Name: WDR65:c.1567G>T (p.Asp523Tyr) AND Van der Woude syndrome 2 Gene(s): WDR65 Variation: c.1567G>T (p.Asp523Tyr) Phenotype: Van der Woude syndrome 2 Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):43672415 Accession: RCV000024146.1 ID: 2476014 209. Name: SMOC1:c.718C>T (p.Gln240Ter) AND Anophthalmos with limb anomalies Gene(s): SMOC1 Variation: c.718C>T (p.Gln240Ter) Phenotype: Anophthalmos with limb anomalies Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 14 Location (GRCh38):70477524 Accession: RCV000023704.1 ID: 2475808 210. Name: B3GALTL:c.1098T>A (p.Tyr366Ter) AND Peters plus syndrome Gene(s): B3GALTL Variation: c.1098T>A (p.Tyr366Ter) Phenotype: Peters plus syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 13 Location (GRCh38):31891736 Accession: RCV000021077.1 ID: 2473900 211. Name: TP63:c.1646T>C (p.Ile549Thr) AND Rapp-Hodgkin ectodermal dysplasia syndrome Gene(s): TP63 Variation: c.1646T>C (p.Ile549Thr) Phenotype: Rapp-Hodgkin ectodermal dysplasia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):189607267 Accession: RCV000006919.1 ID: 2465125 212. Name: TP63:c.953G>A (p.Arg318His) AND Rapp-Hodgkin ectodermal dysplasia syndrome Gene(s): TP63 Variation: c.953G>A (p.Arg318His) Phenotype: Rapp-Hodgkin ectodermal dysplasia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):189585692 Accession: RCV000006907.1 ID: 2465117 213. Name: OFD1:c.653-6A>G AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.653-6A>G Phenotype: Oral-facial-digital syndrome Clinical Significance: Benign Review Status: classified by single submitter Accession: RCV000034032.2 ID: 2426519 214. Name: NM_003611.2:c.441+65 A>G AND Oral-facial-digital syndrome Gene(s): OFD1 Phenotype: Oral-facial-digital syndrome Clinical Significance: Benign Review Status: classified by single submitter Accession: RCV000034024.2 ID: 2426511 215. Name: TRAPPC2:c.-986T>C AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.-986T>C Phenotype: Oral-facial-digital syndrome Clinical Significance: Benign Review Status: classified by single submitter Chromosome: X Location (GRCh38):13753468 Accession: RCV000033958.2 ID: 2426449 216. Name: NM_003611.2:c.1056C>G AND Oral-facial-digital syndrome Gene(s): OFD1 Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000033953.2 ID: 2426444 217. Name: NM_003611.2:c.1051-2>G AND Oral-facial-digital syndrome Gene(s): OFD1 Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000033951.2 ID: 2426442 218. Name: GRHL3, ARG298HIS AND Van der Woude syndrome 2 Gene(s): GRHL3 Phenotype: Van der Woude syndrome 2 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000087751.2 ID: 2408138 219. Name: SMOC1, IVS3, G-A, +1 AND Anophthalmos with limb anomalies Gene(s): SMOC1 Phenotype: Anophthalmos with limb anomalies Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000023706.1 ID: 2380574 220. Name: SMOC1, IVS7, G-A., +1 AND Anophthalmos with limb anomalies Gene(s): SMOC1 Phenotype: Anophthalmos with limb anomalies Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000023705.1 ID: 2380573 221. Name: UCHL1:c.20A>C (p.Glu7Ala) AND Neurodegeneration with optic atrophy, childhood-onset Gene(s): UCHL1 Variation: c.20A>C (p.Glu7Ala) Phenotype: Neurodegeneration with optic atrophy, childhood-onset Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 4 Location (GRCh38):41259013 Accession: RCV000074332.15 ID: 2513481 222. Name: RECQL4:c.3271C>T (p.Gln1091Ter) AND Rapadilino syndrome Gene(s): RECQL4 Variation: c.3271C>T (p.Gln1091Ter) Phenotype: Rapadilino syndrome Clinical Significance: Likely pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):145737416 Accession: RCV000049822.1 ID: 2494533 223. Name: RECQL4:c.3214A>T (p.Arg1072Ter) AND Rapadilino syndrome Gene(s): RECQL4 Variation: c.3214A>T (p.Arg1072Ter) Phenotype: Rapadilino syndrome Clinical Significance: Likely pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):145737549 Accession: RCV000049821.1 ID: 2494532 224. Name: RECQL4:c.2476C>T (p.Arg826Ter) AND Rapadilino syndrome Gene(s): RECQL4 Variation: c.2476C>T (p.Arg826Ter) Frequency: GO-ESP: 0.000162390386 Phenotype: Rapadilino syndrome Clinical Significance: Likely pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):145738509 Accession: RCV000049819.1 ID: 2494530 225. Name: RECQL4:c.2091T>G (p.Phe697Leu) AND Rapadilino syndrome Gene(s): RECQL4 Variation: c.2091T>G (p.Phe697Leu) Phenotype: Rapadilino syndrome Clinical Significance: Likely pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):145739064 Accession: RCV000049818.1 ID: 2494529 226. Name: RECQL4:c.2059-1G>A AND Rapadilino syndrome Gene(s): RECQL4 Variation: c.2059-1G>A Phenotype: Rapadilino syndrome Clinical Significance: Likely pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):145739097 Accession: RCV000049817.1 ID: 2494528 227. Name: RECQL4:c.1910T>C (p.Phe637Ser) AND Rapadilino syndrome Gene(s): RECQL4 Variation: c.1910T>C (p.Phe637Ser) Phenotype: Rapadilino syndrome Clinical Significance: Likely pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):145739460 Accession: RCV000049816.1 ID: 2494527 228. Name: RECQL4:c.1397C>T (p.Pro466Leu) AND Rapadilino syndrome Gene(s): RECQL4 Variation: c.1397C>T (p.Pro466Leu) Phenotype: Rapadilino syndrome Clinical Significance: Likely pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):145740620 Accession: RCV000049812.1 ID: 2494523 229. Name: TGFBR2:c.1495G>T (p.Glu499Ter) AND Loeys-Dietz syndrome Gene(s): TGFBR2 Variation: c.1495G>T (p.Glu499Ter) Phenotype: Loeys-Dietz syndrome Clinical Significance: Likely pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30729974 Accession: RCV000037735.1 ID: 2483336 230. Name: GLI3:c.3481C>T (p.Gln1161Ter) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.3481C>T (p.Gln1161Ter) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):42005190 Accession: RCV000031884.1 ID: 2478653 231. Name: GLI3:c.3456G>T (p.Glu1152Asp) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.3456G>T (p.Glu1152Asp) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):42005215 Accession: RCV000031883.1 ID: 2478652 232. Name: GLI3:c.3324C>G (p.Tyr1108Ter) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.3324C>G (p.Tyr1108Ter) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):42005347 Accession: RCV000031881.1 ID: 2478650 233. Name: GLI3:c.2799C>G (p.Tyr933Ter) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.2799C>G (p.Tyr933Ter) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):42005872 Accession: RCV000031878.1 ID: 2478647 234. Name: GLI3:c.2567C>A (p.Ser856Ter) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.2567C>A (p.Ser856Ter) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):42006104 Accession: RCV000031875.1 ID: 2478644 235. Name: GLI3:c.2431+1G>A AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.2431+1G>A Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):42007193 Accession: RCV000031873.1 ID: 2478642 236. Name: GLI3:c.2149C>T (p.Gln717Ter) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.2149C>T (p.Gln717Ter) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):42007476 Accession: RCV000031867.1 ID: 2478636 237. Name: GLI3:c.2146C>T (p.Gln716Ter) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.2146C>T (p.Gln716Ter) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):42007479 Accession: RCV000031866.1 ID: 2478635 238. Name: GLI3:c.2110C>T (p.Gln704Ter) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.2110C>T (p.Gln704Ter) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):42007515 Accession: RCV000031864.1 ID: 2478633 239. Name: GLI3:c.2062G>T (p.Glu688Ter) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.2062G>T (p.Glu688Ter) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):42011977 Accession: RCV000031863.1 ID: 2478632 240. Name: NSMF:c.1438A>G (p.Thr480Ala) AND Hypogonadotropic hypogonadism 9 with or without anosmia Gene(s): NSMF Variation: c.1438A>G (p.Thr480Ala) Phenotype: Hypogonadotropic hypogonadism 9 with or without anosmia Clinical Significance: risk factor Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):140344108 Accession: RCV000030872.1 ID: 2477772 241. Name: CHD7:c.2501C>T (p.Ser834Phe) AND HYPOGONADOTROPIC HYPOGONADISM 5 WITHOUT ANOSMIA Gene(s): CHD7 Variation: c.2501C>T (p.Ser834Phe) Phenotype: HYPOGONADOTROPIC HYPOGONADISM 5 WITHOUT ANOSMIA Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):61728948 Accession: RCV000030798.1 ID: 2477731 242. Name: FLNB:c.679G>A (p.Glu227Lys) AND Larsen syndrome, dominant type Gene(s): FLNB Variation: c.679G>A (p.Glu227Lys) Phenotype: Larsen syndrome, dominant type Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58067395 Accession: RCV000030672.2 ID: 2477665 243. Name: FLNB:c.5071G>A (p.Gly1691Ser) AND Larsen syndrome, dominant type Gene(s): FLNB Variation: c.5071G>A (p.Gly1691Ser) Phenotype: Larsen syndrome, dominant type Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58124218 Accession: RCV000030671.2 ID: 2477664 244. Name: FLNB:c.482T>G (p.Phe161Cys) AND Larsen syndrome, dominant type Gene(s): FLNB Variation: c.482T>G (p.Phe161Cys) Phenotype: Larsen syndrome, dominant type Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58062962 Accession: RCV000030670.2 ID: 2477663 245. Name: FLNB:c.4756G>A (p.Gly1586Arg) AND Larsen syndrome, dominant type Gene(s): FLNB Variation: c.4756G>A (p.Gly1586Arg) Phenotype: Larsen syndrome, dominant type Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58121790 Accession: RCV000030669.2 ID: 2477662 246. Name: FLNB:c.5071G>A (p.Gly1691Ser) AND Larsen syndrome Gene(s): FLNB Variation: c.5071G>A (p.Gly1691Ser) Phenotype: Larsen syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58124218 Accession: RCV000030663.2 ID: 2477657 247. Name: FLNB:c.679G>A (p.Glu227Lys) AND Larsen syndrome Gene(s): FLNB Variation: c.679G>A (p.Glu227Lys) Phenotype: Larsen syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58067395 Accession: RCV000030662.2 ID: 2477656 248. Name: FLNB:c.4756G>A (p.Gly1586Arg) AND Larsen syndrome Gene(s): FLNB Variation: c.4756G>A (p.Gly1586Arg) Phenotype: Larsen syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58121790 Accession: RCV000030661.2 ID: 2477655 249. Name: FLNB:c.482T>G (p.Phe161Cys) AND Larsen syndrome Gene(s): FLNB Variation: c.482T>G (p.Phe161Cys) Phenotype: Larsen syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58062962 Accession: RCV000030660.2 ID: 2477654 250. Name: TGFBR2:c.310C>T (p.Pro104Ser) AND Loeys-Dietz syndrome Gene(s): TGFBR2 Variation: c.310C>T (p.Pro104Ser) Phenotype: Loeys-Dietz syndrome Clinical Significance: Likely pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30691808 Accession: RCV000030550.1 ID: 2477571 251. Name: TGFBR2:c.1540T>C (p.Cys514Arg) AND Loeys-Dietz syndrome Gene(s): TGFBR2 Variation: c.1540T>C (p.Cys514Arg) Phenotype: Loeys-Dietz syndrome Clinical Significance: Likely pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30732927 Accession: RCV000030548.1 ID: 2477569 252. Name: TGFBR2:c.1185G>C (p.Leu395Leu=) AND Loeys-Dietz syndrome Gene(s): TGFBR2 Variation: c.1185G>C (p.Leu395Leu=) Phenotype: Loeys-Dietz syndrome Clinical Significance: Likely benign Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30713860 Accession: RCV000030546.1 ID: 2477567 253. Name: TGFBR2:c.1163A>G (p.Lys388Arg) AND Loeys-Dietz syndrome Gene(s): TGFBR2 Variation: c.1163A>G (p.Lys388Arg) Phenotype: Loeys-Dietz syndrome Clinical Significance: Likely pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30713838 Accession: RCV000030545.1 ID: 2477566 254. Name: TGFBR2:c.1152T>A (p.Asn384Lys) AND Loeys-Dietz syndrome Gene(s): TGFBR2 Variation: c.1152T>A (p.Asn384Lys) Phenotype: Loeys-Dietz syndrome Clinical Significance: Likely pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30713827 Accession: RCV000030543.1 ID: 2477564 255. Name: GAS1:c.776G>A (p.Gly259Glu) AND Variant of unknown significance Gene(s): GAS1 Variation: c.776G>A (p.Gly259Glu) Phenotype: Variant of unknown significance Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):89560919 Accession: RCV000024281.1 ID: 2476086 256. Name: GAS1:c.599C>G (p.Thr200Arg) AND Variant of unknown significance Gene(s): GAS1 Variation: c.599C>G (p.Thr200Arg) Phenotype: Variant of unknown significance Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):89561096 Accession: RCV000024280.1 ID: 2476085 257. Name: ARID1B:c.3304C>T (p.Arg1102Ter) AND Mental retardation, autosomal dominant 12 Gene(s): ARID1B Variation: c.3304C>T (p.Arg1102Ter) Phenotype: Mental retardation, autosomal dominant 12 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):157502271 Accession: RCV000024209.1 ID: 2476043 258. Name: MEGF10:c.2320T>C (p.Cys774Arg) AND Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene(s): MEGF10 Variation: c.2320T>C (p.Cys774Arg) Phenotype: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 5 Location (GRCh38):126776517 Accession: RCV000023955.1 ID: 2475928 259. Name: MEGF10:c.2301C>A (p.Cys767Ter) AND Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene(s): MEGF10 Variation: c.2301C>A (p.Cys767Ter) Phenotype: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 5 Location (GRCh38):126776498 Accession: RCV000023952.1 ID: 2475927 260. Name: FLNB:c.7029T>G (p.Tyr2343Ter) AND Spondylocarpotarsal synostosis syndrome Gene(s): FLNB Variation: c.7029T>G (p.Tyr2343Ter) Phenotype: Spondylocarpotarsal synostosis syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58148888 Accession: RCV000020460.2 ID: 2473441 261. Name: FLNB:c.700C>G (p.Leu234Val) AND Larsen syndrome, dominant type Gene(s): FLNB Variation: c.700C>G (p.Leu234Val) Phenotype: Larsen syndrome, dominant type Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58067416 Accession: RCV000020459.2 ID: 2473440 262. Name: FLNB:c.629G>T (p.Gly210Val) AND Atelosteogenesis type 3 Gene(s): FLNB Variation: c.629G>T (p.Gly210Val) Phenotype: Atelosteogenesis type 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58064531 Accession: RCV000020458.2 ID: 2473439 263. Name: FLNB:c.608A>C (p.Gln203Pro) AND Atelosteogenesis type 1 Gene(s): FLNB Variation: c.608A>C (p.Gln203Pro) Phenotype: Atelosteogenesis type 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58064510 Accession: RCV000020457.2 ID: 2473438 264. Name: FLNB:c.602C>T (p.Ala201Val) AND Atelosteogenesis type 3 Gene(s): FLNB Variation: c.602C>T (p.Ala201Val) Phenotype: Atelosteogenesis type 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58064504 Accession: RCV000020456.2 ID: 2473437 265. Name: FLNB:c.5500G>A (p.Gly1834Arg) AND Larsen syndrome, dominant type Gene(s): FLNB Variation: c.5500G>A (p.Gly1834Arg) Phenotype: Larsen syndrome, dominant type Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58131722 Accession: RCV000020455.2 ID: 2473436 266. Name: FLNB:c.549C>G (p.Cys183Trp) AND Atelosteogenesis type 1 Gene(s): FLNB Variation: c.549C>G (p.Cys183Trp) Phenotype: Atelosteogenesis type 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58064451 Accession: RCV000020454.2 ID: 2473435 267. Name: FLNB:c.542G>T (p.Gly181Val) AND Atelosteogenesis type 1 Gene(s): FLNB Variation: c.542G>T (p.Gly181Val) Phenotype: Atelosteogenesis type 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58064444 Accession: RCV000020453.2 ID: 2473434 268. Name: FLNB:c.512T>A (p.Leu171Gln) AND Atelosteogenesis type 1 Gene(s): FLNB Variation: c.512T>A (p.Leu171Gln) Phenotype: Atelosteogenesis type 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58062992 Accession: RCV000020452.2 ID: 2473433 269. Name: FLNB:c.4927G>T (p.Ala1643Ser) AND Atelosteogenesis type 3 Gene(s): FLNB Variation: c.4927G>T (p.Ala1643Ser) Phenotype: Atelosteogenesis type 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58124074 Accession: RCV000020451.2 ID: 2473432 270. Name: FLNB:c.4808C>T (p.Pro1603Leu) AND Larsen syndrome, dominant type Gene(s): FLNB Variation: c.4808C>T (p.Pro1603Leu) Phenotype: Larsen syndrome, dominant type Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58121842 Accession: RCV000020450.2 ID: 2473431 271. Name: FLNB:c.4804T>C (p.Ser1602Pro) AND Atelosteogenesis type 3 Gene(s): FLNB Variation: c.4804T>C (p.Ser1602Pro) Phenotype: Atelosteogenesis type 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58121838 Accession: RCV000020449.2 ID: 2473430 272. Name: FLNB:c.4775T>A (p.Val1592Asp) AND Larsen syndrome, dominant type Gene(s): FLNB Variation: c.4775T>A (p.Val1592Asp) Phenotype: Larsen syndrome, dominant type Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58121809 Accession: RCV000020448.2 ID: 2473429 273. Name: FLNB:c.442T>A (p.Trp148Arg) AND Atelosteogenesis type 1 Gene(s): FLNB Variation: c.442T>A (p.Trp148Arg) Phenotype: Atelosteogenesis type 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58062922 Accession: RCV000020445.2 ID: 2473426 274. Name: FLNB:c.4292T>G (p.Leu1431Arg) AND Larsen syndrome, dominant type Gene(s): FLNB Variation: c.4292T>G (p.Leu1431Arg) Phenotype: Larsen syndrome, dominant type Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58116537 Accession: RCV000020444.2 ID: 2473425 275. Name: FLNB:c.1945C>T (p.Arg649Ter) AND Spondylocarpotarsal synostosis syndrome Gene(s): FLNB Variation: c.1945C>T (p.Arg649Ter) Phenotype: Spondylocarpotarsal synostosis syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58094188 Accession: RCV000020443.2 ID: 2473424 276. Name: FLNB:c.1088G>A (p.Gly363Glu) AND Larsen syndrome, dominant type Gene(s): FLNB Variation: c.1088G>A (p.Gly363Glu) Phenotype: Larsen syndrome, dominant type Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58083645 Accession: RCV000020442.2 ID: 2473423 277. Name: FLNB:c.1081G>A (p.Gly361Ser) AND Larsen syndrome, dominant type Gene(s): FLNB Variation: c.1081G>A (p.Gly361Ser) Phenotype: Larsen syndrome, dominant type Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58083638 Accession: RCV000020441.2 ID: 2473422 278. Name: DHCR7:c.906C>G (p.Phe302Leu) AND Smith-Lemli-Opitz syndrome Gene(s): DHCR7 Variation: c.906C>G (p.Phe302Leu) Frequency: GMAF: 0.0005, GMAF: 0.0005(A) Phenotype: Smith-Lemli-Opitz syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 11 Location (GRCh38):71148915 Accession: RCV000020440.1 ID: 2473421 279. Name: DHCR7:c.725G>A (p.Arg242His) AND Smith-Lemli-Opitz syndrome Gene(s): DHCR7 Variation: c.725G>A (p.Arg242His) Phenotype: Smith-Lemli-Opitz syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 11 Location (GRCh38):71150031 Accession: RCV000020439.1 ID: 2473420 280. Name: DHCR7:c.724C>T (p.Arg242Cys) AND Smith-Lemli-Opitz syndrome Gene(s): DHCR7 Variation: c.724C>T (p.Arg242Cys) Frequency: GO-ESP: 0.000153988297 Phenotype: Smith-Lemli-Opitz syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 11 Location (GRCh38):71150032 Accession: RCV000020438.1 ID: 2473419 281. Name: DHCR7:c.506C>T (p.Ser169Leu) AND Smith-Lemli-Opitz syndrome Gene(s): DHCR7 Variation: c.506C>T (p.Ser169Leu) Frequency: GO-ESP: 0.000076994148 Phenotype: Smith-Lemli-Opitz syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 11 Location (GRCh38):71152393 Accession: RCV000020437.1 ID: 2473418 282. Name: DHCR7:c.1342G>A (p.Glu448Lys) AND Smith-Lemli-Opitz syndrome Gene(s): DHCR7 Variation: c.1342G>A (p.Glu448Lys) Phenotype: Smith-Lemli-Opitz syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 11 Location (GRCh38):71146507 Accession: RCV000020435.1 ID: 2473417 283. Name: DHCR7:c.1228G>A (p.Gly410Ser) AND Smith-Lemli-Opitz syndrome Gene(s): DHCR7 Variation: c.1228G>A (p.Gly410Ser) Phenotype: Smith-Lemli-Opitz syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 11 Location (GRCh38):71146621 Accession: RCV000020434.1 ID: 2473416 284. Name: SOX9:c.507C>T (p.His169His=) AND Camptomelic dysplasia Gene(s): SOX9 Variation: c.507C>T (p.His169His=) Frequency: GO-ESP: 0.166307857912, GMAF: 0.1240, GMAF: 0.1240(T) Phenotype: Camptomelic dysplasia Clinical Significance: Benign Review Status: classified by single submitter Chromosome: 17 Location (GRCh38):70118935 Accession: RCV000020284.1 ID: 2473294 285. Name: SOX9:c.1320C>G (p.Tyr440Ter) AND Camptomelic dysplasia Gene(s): SOX9 Variation: c.1320C>G (p.Tyr440Ter) Frequency: GMAF: 0.0009, GMAF: 0.0009(T) Phenotype: Camptomelic dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 17 Location (GRCh38):70120318 Accession: RCV000020283.1 ID: 2473293 286. Name: SOX9:c.1320C>A (p.Tyr440Ter) AND Camptomelic dysplasia Gene(s): SOX9 Variation: c.1320C>A (p.Tyr440Ter) Frequency: GMAF: 0.0009(T), GMAF: 0.0009 Phenotype: Camptomelic dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 17 Location (GRCh38):70120318 Accession: RCV000020282.1 ID: 2473292 287. Name: COL2A1:c.1999C>T (p.Leu667Phe) AND STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR Gene(s): COL2A1 Variation: c.1999C>T (p.Leu667Phe) Phenotype: STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):48377218 Accession: RCV000018927.26 ID: 2472311 288. Name: COL2A1:c.3220G>A (p.Gly1074Ser) AND Hypochondrogenesis Gene(s): COL2A1 Variation: c.3220G>A (p.Gly1074Ser) Phenotype: Hypochondrogenesis Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):48371156 Accession: RCV000018895.26 ID: 2472290 289. Name: COL11A2:c.1981G>A (p.Gly661Arg) AND Otospondylomegaepiphyseal dysplasia Gene(s): COL11A2 Variation: c.1981G>A (p.Gly661Arg) Phenotype: Otospondylomegaepiphyseal dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):33144993 Accession: RCV000018658.26 ID: 2472148 290. Name: DHCR7:c.452G>A (p.Trp151Ter) AND Smith-Lemli-Opitz syndrome Gene(s): DHCR7 Variation: c.452G>A (p.Trp151Ter) Frequency: GO-ESP: 0.000846935633 Phenotype: Smith-Lemli-Opitz syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 11 Location (GRCh38):71152447 Accession: RCV000020436.1 ID: 2422427 291. Name: COL2A1, IVS51DS, T-C, +2 AND STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR Gene(s): COL2A1 Phenotype: STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000018943.22 ID: 2422030 292. Name: MEGF10, TRP520TER AND Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene(s): MEGF10 Phenotype: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000023951.1 ID: 2380814 293. Name: TFAP2A:c.698G>A (p.Arg233Gln) AND Branchiooculofacial syndrome Gene(s): TFAP2A Variation: c.698G>A (p.Arg233Gln) Phenotype: Branchiooculofacial syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):10404795 Accession: RCV000019536.25 ID: 2472726 294. Name: COL11A2:c.4322G>A (p.Gly1441Glu) AND Weissenbacher-Zweymuller syndrome Gene(s): COL11A2 Variation: c.4322G>A (p.Gly1441Glu) Phenotype: Weissenbacher-Zweymuller syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):33134513 Accession: RCV000018660.26 ID: 2472149 295. Name: B3GALTL:c.1178G>A (p.Gly393Glu) AND Peters plus syndrome Gene(s): B3GALTL Variation: c.1178G>A (p.Gly393Glu) Phenotype: Peters plus syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 13 Location (GRCh38):31891816 Accession: RCV000001330.1 ID: 2461478 296. Name: TFAP2A, PHE319SER AND Branchiooculofacial syndrome Gene(s): TFAP2A Phenotype: Branchiooculofacial syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000019533.26 ID: 2273649 297. Name: POLR1C:c.835C>T (p.Arg279Trp) AND Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Gene(s): POLR1C Variation: c.835C>T (p.Arg279Trp) Frequency: GO-ESP: 0.000076887590 Phenotype: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):43488699 Accession: RCV000023800.1 ID: 2475856 298. Name: POLR1C:c.979A>T (p.Lys327Ter) AND Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Gene(s): POLR1C Variation: c.979A>T (p.Lys327Ter) Phenotype: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):43488976 Accession: RCV000023798.1 ID: 2475855 299. Name: COL11A2:c.4322G>A (p.Gly1441Glu) AND Otospondylomegaepiphyseal dysplasia, heterozygous Gene(s): COL11A2 Variation: c.4322G>A (p.Gly1441Glu) Phenotype: Otospondylomegaepiphyseal dysplasia, heterozygous Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):33134513 Accession: RCV000018661.22 ID: 2472150 300. Name: WNT3:c.247C>T (p.Gln83Ter) AND Tetraamelia, autosomal recessive Gene(s): WNT3 Variation: c.247C>T (p.Gln83Ter) Phenotype: Tetraamelia, autosomal recessive Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 17 Location (GRCh38):44851109 Accession: RCV000014823.24 ID: 2469653 301. Name: MID1:c.884T>C (p.Leu295Pro) AND Opitz-Frias syndrome Gene(s): MID1 Variation: c.884T>C (p.Leu295Pro) Phenotype: Opitz-Frias syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):10450649 Accession: RCV000011558.1 ID: 2467710 302. Name: FGF8:c.379C>G (p.Arg127Gly) AND Kallmann syndrome 6 Gene(s): FGF8 Variation: c.379C>G (p.Arg127Gly) Phenotype: Kallmann syndrome 6 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 10 Location (GRCh38):103531285 Accession: RCV000009695.1 ID: 2466972 303. Name: TBX1:c.582C>G (p.His194Gln) AND Shprintzen syndrome Gene(s): TBX1 Variation: c.582C>G (p.His194Gln) Phenotype: Shprintzen syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 22 Location (GRCh38):19751747 Accession: RCV000008003.1 ID: 2465846 304. Name: DHCR7:c.744G>T (p.Trp248Cys) AND Smith-Lemli-Opitz syndrome Gene(s): DHCR7 Variation: c.744G>T (p.Trp248Cys) Phenotype: Smith-Lemli-Opitz syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 11 Location (GRCh38):71150012 Accession: RCV000007184.2 ID: 2465287 305. Name: POLR1D, LEU51ARG AND Treacher collins syndrome 2 Gene(s): POLR1D Phenotype: Treacher collins syndrome 2 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000024045.1 ID: 2424059 306. Name: POLR1D, GLU47LYS AND Treacher collins syndrome 2 Gene(s): POLR1D Phenotype: Treacher collins syndrome 2 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000024044.1 ID: 2424058 307. Name: POLR1D, ARG87TER AND Treacher collins syndrome 2 Gene(s): POLR1D Phenotype: Treacher collins syndrome 2 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000024043.1 ID: 2424057 308. Name: TFAP2A:c.874G>A (p.Glu292Lys) AND Branchiooculofacial syndrome Gene(s): TFAP2A Variation: c.874G>A (p.Glu292Lys) Phenotype: Branchiooculofacial syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):10400820 Accession: RCV000019535.22 ID: 2472725 309. Name: TFAP2A:c.773G>A (p.Gly258Glu) AND Branchiooculofacial syndrome Gene(s): TFAP2A Variation: c.773G>A (p.Gly258Glu) Phenotype: Branchiooculofacial syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):10402823 Accession: RCV000019531.22 ID: 2472724 310. Name: SATB2:c.715C>T (p.Arg239Ter) AND Chromosome 2q32-q33 deletion syndrome Gene(s): SATB2 Variation: c.715C>T (p.Arg239Ter) Phenotype: Chromosome 2q32-q33 deletion syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 2 Location (GRCh38):200213882 Accession: RCV000002627.2 ID: 2462310 311. Name: PTCH1:c.2183C>T (p.Thr728Met) AND Holoprosencephaly 7 Gene(s): PTCH1 Variation: c.2183C>T (p.Thr728Met) Frequency: GO-ESP: 0.007381208673, GMAF: 0.0037(A) Phenotype: Holoprosencephaly 7 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):98231100 Accession: RCV000008705.1 ID: 2417869 312. Name: B3GALTL, IVS6, G-A, +1 AND Peters plus syndrome Gene(s): B3GALTL Phenotype: Peters plus syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000001328.1 ID: 2363136 313. Name: POLR1C:c.836G>A (p.Arg279Gln) AND Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Gene(s): POLR1C Variation: c.836G>A (p.Arg279Gln) Frequency: GO-ESP: 0.000153775181, GMAF: 0.0005(A), GMAF: 0.0005 Phenotype: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):43488700 Accession: RCV000023796.1 ID: 2475854 314. Name: AMER1:c.429T>A (p.Cys143Ter) AND Osteopathia striata with cranial sclerosis Gene(s): AMER1 Variation: c.429T>A (p.Cys143Ter) Phenotype: Osteopathia striata with cranial sclerosis Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):63412738 Accession: RCV000022871.8 ID: 2475339 315. Name: COL2A1:c.625C>T (p.Arg209Ter) AND Stickler syndrome type 1 Gene(s): COL2A1 Variation: c.625C>T (p.Arg209Ter) Phenotype: Stickler syndrome type 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):48389687 Accession: RCV000018904.26 ID: 2472296 316. Name: CRLF1:c.829C>T (p.Arg277Ter) AND Cold-induced sweating syndrome 1 Gene(s): CRLF1 Variation: c.829C>T (p.Arg277Ter) Phenotype: Cold-induced sweating syndrome 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 19 Location (GRCh38):18707728 Accession: RCV000006067.1 ID: 2464538 317. Name: TCOF1:c.2731C>T (p.Arg911Ter) AND Treacher collins syndrome 1 Gene(s): TCOF1 Variation: c.2731C>T (p.Arg911Ter) Phenotype: Treacher collins syndrome 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 5 Location (GRCh38):149767567 Accession: RCV000004172.2 ID: 2463318 318. Name: TCOF1:c.149A>G (p.Tyr50Cys) AND Treacher collins syndrome 1 Gene(s): TCOF1 Variation: c.149A>G (p.Tyr50Cys) Phenotype: Treacher collins syndrome 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 5 Location (GRCh38):149740759 Accession: RCV000004170.2 ID: 2463317 319. Name: CHD7:c.2442+5G>C AND Kallmann syndrome 5 Gene(s): CHD7 Variation: c.2442+5G>C Phenotype: Kallmann syndrome 5 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):61714157 Accession: RCV000002114.1 ID: 2461969 320. Name: PTCH1:c.2479A>G (p.Ser827Gly) AND Holoprosencephaly 7 Gene(s): PTCH1 Variation: c.2479A>G (p.Ser827Gly) Frequency: GMAF: 0.0009(C), GMAF: 0.0009 Phenotype: Holoprosencephaly 7 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):98229479 Accession: RCV000008706.1 ID: 2548082 321. Name: PRKACA:c.617T>G (p.Leu206Arg) AND PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4 Gene(s): PRKACA Variation: c.617T>G (p.Leu206Arg) Phenotype: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4 Clinical Significance: other Review Status: classified by single submitter Chromosome: 19 Location (GRCh38):14208416 Accession: RCV000119834.1 ID: 2538507 322. Name: TACR3:c.824G>A (p.Trp275Ter) AND Hypogonadotropic hypogonadism 11 with or without anosmia Gene(s): TACR3 Variation: c.824G>A (p.Trp275Ter) Frequency: GO-ESP: 0.000615100723 Phenotype: Hypogonadotropic hypogonadism 11 with or without anosmia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 4 Location (GRCh38):104577415 Accession: RCV000056319.24 ID: 2496294 323. Name: FGF17:c.323T>C (p.Ile108Thr) AND Hypogonadotropic hypogonadism 20 with or without anosmia Gene(s): FGF17 Variation: c.323T>C (p.Ile108Thr) Phenotype: Hypogonadotropic hypogonadism 20 with or without anosmia Clinical Significance: risk factor Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):21904110 Accession: RCV000043598.1 ID: 2488997 324. Name: COL11A1:c.3852+1G>A AND Marshall syndrome Gene(s): COL11A1 Variation: c.3852+1G>A Phenotype: Marshall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):103381186 Accession: RCV000032995.26 ID: 2479433 325. Name: TACR3:c.1057C>T (p.Pro353Ser) AND Hypogonadotropic hypogonadism 11 with or without anosmia Gene(s): TACR3 Variation: c.1057C>T (p.Pro353Ser) Phenotype: Hypogonadotropic hypogonadism 11 with or without anosmia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 4 Location (GRCh38):104512672 Accession: RCV000030898.24 ID: 2477787 326. Name: TACR3:c.278G>A (p.Gly93Asp) AND Hypogonadotropic hypogonadism 11 with or without anosmia Gene(s): TACR3 Variation: c.278G>A (p.Gly93Asp) Phenotype: Hypogonadotropic hypogonadism 11 with or without anosmia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 4 Location (GRCh38):104640555 Accession: RCV000030897.24 ID: 2477786 327. Name: GLI3:c.2800G>C (p.Ala934Pro) AND GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SEVERE Gene(s): GLI3 Variation: c.2800G>C (p.Ala934Pro) Phenotype: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SEVERE Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):42005871 Accession: RCV000030896.24 ID: 2477785 328. Name: WDR11:c.1303G>A (p.Ala435Thr) AND Hypogonadotropic hypogonadism 14 with or without anosmia Gene(s): WDR11 Variation: c.1303G>A (p.Ala435Thr) Phenotype: Hypogonadotropic hypogonadism 14 with or without anosmia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 10 Location (GRCh38):122630690 Accession: RCV000030849.1 ID: 2477762 329. Name: TGFB2:c.771C>A (p.Cys257Ter) AND Loeys-Dietz syndrome, type 4 Gene(s): TGFB2 Variation: c.771C>A (p.Cys257Ter) Phenotype: Loeys-Dietz syndrome, type 4 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):218607723 Accession: RCV000030735.25 ID: 2477700 330. Name: TGFB2:c.1097C>A (p.Pro366His) AND Loeys-Dietz syndrome, type 4 Gene(s): TGFB2 Variation: c.1097C>A (p.Pro366His) Phenotype: Loeys-Dietz syndrome, type 4 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):218610765 Accession: RCV000030732.23 ID: 2477697 331. Name: GLI2:c.4663T>C (p.Ser1555Pro) AND Holoprosencephaly 9 Gene(s): GLI2 Variation: c.4663T>C (p.Ser1555Pro) Frequency: GO-ESP: 0.002921728433, GMAF: 0.0014, GMAF: 0.0014(C) Phenotype: Holoprosencephaly 9 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 2 Location (GRCh38):121748153 Accession: RCV000030728.24 ID: 2477693 332. Name: PLCB4:c.1897C>T (p.Arg633Cys) AND Auriculocondylar syndrome 2 Gene(s): PLCB4 Variation: c.1897C>T (p.Arg633Cys) Phenotype: Auriculocondylar syndrome 2 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 20 Location (GRCh38):9389726 Accession: RCV000024336.2 ID: 2476121 333. Name: SIX3:c.385G>T (p.Glu129Ter) AND Schizencephaly Gene(s): SIX3 Variation: c.385G>T (p.Glu129Ter) Phenotype: Schizencephaly Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 2 Location (GRCh38):45169628 Accession: RCV000023329.1 ID: 2475590 334. Name: GATA4:c.487C>T (p.Pro163Ser) AND Tetralogy of Fallot Gene(s): GATA4 Variation: c.487C>T (p.Pro163Ser) Phenotype: Tetralogy of Fallot Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):11566308 Accession: RCV000023004.3 ID: 2475413 335. Name: GATA4:c.487C>T (p.Pro163Ser) AND Ventricular septal defect 1 Gene(s): GATA4 Variation: c.487C>T (p.Pro163Ser) Phenotype: Ventricular septal defect 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):11566308 Accession: RCV000023003.1 ID: 2475412 336. Name: GATA4:c.487C>T (p.Pro163Ser) AND Atrioventricular septal defect 4 Gene(s): GATA4 Variation: c.487C>T (p.Pro163Ser) Phenotype: Atrioventricular septal defect 4 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):11566308 Accession: RCV000023002.1 ID: 2475411 337. Name: COL2A1:c.1957C>T (p.Arg653Ter) AND Rhegmatogenous retinal detachment, autosomal dominant Gene(s): COL2A1 Variation: c.1957C>T (p.Arg653Ter) Phenotype: Rhegmatogenous retinal detachment, autosomal dominant Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):48377504 Accession: RCV000018939.26 ID: 2472320 338. Name: COL2A1:c.1693C>T (p.Arg565Cys) AND Stickler syndrome type 1 Gene(s): COL2A1 Variation: c.1693C>T (p.Arg565Cys) Phenotype: Stickler syndrome type 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):48379358 Accession: RCV000018926.26 ID: 2472310 339. Name: COL2A1:c.2965C>T (p.Arg989Cys) AND Spondyloepiphyseal dysplasia congenita Gene(s): COL2A1 Variation: c.2965C>T (p.Arg989Cys) Phenotype: Spondyloepiphyseal dysplasia congenita Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):48372112 Accession: RCV000018910.26 ID: 2472301 340. Name: COL2A1:c.800G>A (p.Gly267Asp) AND STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR Gene(s): COL2A1 Variation: c.800G>A (p.Gly267Asp) Phenotype: STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):48388223 Accession: RCV000018908.22 ID: 2472299 341. Name: COL2A1:c.2794C>T (p.Arg932Ter) AND Stickler syndrome type 1 Gene(s): COL2A1 Variation: c.2794C>T (p.Arg932Ter) Phenotype: Stickler syndrome type 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):48372481 Accession: RCV000018899.22 ID: 2472293 342. Name: COL9A1:c.883C>T (p.Arg295Ter) AND Stickler syndrome, type 4 Gene(s): COL9A1 Variation: c.883C>T (p.Arg295Ter) Phenotype: Stickler syndrome, type 4 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):70990736 Accession: RCV000018735.22 ID: 2472185 343. Name: COL11A1:c.1910G>T (p.Gly637Val) AND Stickler syndrome, type 2 Gene(s): COL11A1 Variation: c.1910G>T (p.Gly637Val) Phenotype: Stickler syndrome, type 2 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):103470189 Accession: RCV000018669.26 ID: 2472157 344. Name: COL11A2:c.4135C>T (p.Arg1379Ter) AND Stickler syndrome, type 3 Gene(s): COL11A2 Variation: c.4135C>T (p.Arg1379Ter) Phenotype: Stickler syndrome, type 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):33135082 Accession: RCV000018665.26 ID: 2472154 345. Name: GLI2:c.1435C>G (p.Arg479Gly) AND Holoprosencephaly 9 Gene(s): GLI2 Variation: c.1435C>G (p.Arg479Gly) Phenotype: Holoprosencephaly 9 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 2 Location (GRCh38):121736076 Accession: RCV000014848.24 ID: 2469667 346. Name: GLI2:c.1323G>A (p.Trp441Ter) AND Holoprosencephaly 9 Gene(s): GLI2 Variation: c.1323G>A (p.Trp441Ter) Phenotype: Holoprosencephaly 9 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 2 Location (GRCh38):121732640 Accession: RCV000014847.24 ID: 2469666 347. Name: MID1:c.343G>T (p.Glu115Ter) AND Opitz-Frias syndrome Gene(s): MID1 Variation: c.343G>T (p.Glu115Ter) Phenotype: Opitz-Frias syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):10535245 Accession: RCV000011556.5 ID: 2467709 348. Name: MID1:c.1877T>C (p.Leu626Pro) AND Opitz-Frias syndrome Gene(s): MID1 Variation: c.1877T>C (p.Leu626Pro) Phenotype: Opitz-Frias syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):10417535 Accession: RCV000011555.6 ID: 2467708 349. Name: GDF6:c.746C>A (p.Ala249Glu) AND Klippel-Feil syndrome 1, autosomal dominant Gene(s): GDF6 Variation: c.746C>A (p.Ala249Glu) Phenotype: Klippel-Feil syndrome 1, autosomal dominant Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):97157413 Accession: RCV000008876.2 ID: 2466426 350. Name: TWIST1:c.466A>G (p.Ile156Val) AND Saethre-Chotzen syndrome Gene(s): TWIST1 Variation: c.466A>G (p.Ile156Val) Phenotype: Saethre-Chotzen syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):19156479 Accession: RCV000008446.1 ID: 2466133 351. Name: TWIST1:c.541G>T (p.Glu181Ter) AND Saethre-Chotzen syndrome Gene(s): TWIST1 Variation: c.541G>T (p.Glu181Ter) Phenotype: Saethre-Chotzen syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):19156404 Accession: RCV000008444.1 ID: 2466132 352. Name: TWIST1:c.392T>C (p.Leu131Pro) AND Saethre-Chotzen syndrome Gene(s): TWIST1 Variation: c.392T>C (p.Leu131Pro) Phenotype: Saethre-Chotzen syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):19156553 Accession: RCV000008442.1 ID: 2466131 353. Name: TWIST1:c.376G>T (p.Glu126Ter) AND Saethre-Chotzen syndrome Gene(s): TWIST1 Variation: c.376G>T (p.Glu126Ter) Phenotype: Saethre-Chotzen syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):19156569 Accession: RCV000008441.1 ID: 2466130 354. Name: TWIST1:c.368C>A (p.Ser123Ter) AND Saethre-Chotzen syndrome Gene(s): TWIST1 Variation: c.368C>A (p.Ser123Ter) Phenotype: Saethre-Chotzen syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):19156577 Accession: RCV000008440.1 ID: 2466129 355. Name: TWIST1:c.309C>A (p.Tyr103Ter) AND Saethre-Chotzen syndrome Gene(s): TWIST1 Variation: c.309C>A (p.Tyr103Ter) Phenotype: Saethre-Chotzen syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):19156636 Accession: RCV000008439.1 ID: 2466128 356. Name: TWIST1:c.356A>C (p.Gln119Pro) AND Saethre-Chotzen syndrome Gene(s): TWIST1 Variation: c.356A>C (p.Gln119Pro) Phenotype: Saethre-Chotzen syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):19156589 Accession: RCV000008438.1 ID: 2466127 357. Name: SALL1:c.1256T>A (p.Leu419Ter) AND Goldenhar syndrome Gene(s): SALL1 Variation: c.1256T>A (p.Leu419Ter) Phenotype: Goldenhar syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 16 Location (GRCh38):51174877 Accession: RCV000007861.1 ID: 2465747 358. Name: LMX1B:c.745C>T (p.Arg249Ter) AND Nail-patella syndrome Gene(s): LMX1B Variation: c.745C>T (p.Arg249Ter) Phenotype: Nail-patella syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):129455806 Accession: RCV000007425.1 ID: 2465436 359. Name: LMX1B:c.668G>A (p.Arg223Gln) AND Nail-patella syndrome Gene(s): LMX1B Variation: c.668G>A (p.Arg223Gln) Phenotype: Nail-patella syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):129455529 Accession: RCV000007422.1 ID: 2465435 360. Name: LMX1B:c.691C>T (p.Arg231Ter) AND Nail-patella syndrome Gene(s): LMX1B Variation: c.691C>T (p.Arg231Ter) Phenotype: Nail-patella syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):129455552 Accession: RCV000007421.1 ID: 2465434 361. Name: LMX1B:c.244C>T (p.Gln82Ter) AND Nail-patella syndrome Gene(s): LMX1B Variation: c.244C>T (p.Gln82Ter) Phenotype: Nail-patella syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):129377766 Accession: RCV000007420.1 ID: 2465433 362. Name: LMX1B:c.353G>T (p.Cys118Phe) AND Nail-patella syndrome Gene(s): LMX1B Variation: c.353G>T (p.Cys118Phe) Phenotype: Nail-patella syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):129453141 Accession: RCV000007418.1 ID: 2465432 363. Name: LMX1B:c.661C>T (p.Arg221Ter) AND Nail-patella syndrome Gene(s): LMX1B Variation: c.661C>T (p.Arg221Ter) Phenotype: Nail-patella syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):129455522 Accession: RCV000007416.1 ID: 2465431 364. Name: LMX1B:c.807C>A (p.Asn269Lys) AND Nail-patella syndrome Gene(s): LMX1B Variation: c.807C>A (p.Asn269Lys) Phenotype: Nail-patella syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):129455868 Accession: RCV000007415.1 ID: 2465430 365. Name: TGIF1:c.707A>T (p.Gln236Leu) AND Holoprosencephaly 4 Gene(s): TGIF1 Variation: c.707A>T (p.Gln236Leu) Frequency: GO-ESP: 0.000230662771 Phenotype: Holoprosencephaly 4 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 18 Location (GRCh38):3457439 Accession: RCV000007399.1 ID: 2465417 366. Name: TGIF1:c.177C>G (p.Tyr59Ter) AND Holoprosencephaly 4 Gene(s): TGIF1 Variation: c.177C>G (p.Tyr59Ter) Frequency: GO-ESP: 0.000076899416 Phenotype: Holoprosencephaly 4 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 18 Location (GRCh38):3452154 Accession: RCV000007398.1 ID: 2465416 367. Name: TGIF1:c.872C>T (p.Ser291Phe) AND Holoprosencephaly 4 Gene(s): TGIF1 Variation: c.872C>T (p.Ser291Phe) Phenotype: Holoprosencephaly 4 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 18 Location (GRCh38):3457604 Accession: RCV000007397.1 ID: 2465415 368. Name: TGIF1:c.838A>G (p.Thr280Ala) AND Holoprosencephaly 4 Gene(s): TGIF1 Variation: c.838A>G (p.Thr280Ala) Frequency: GO-ESP: 0.000153775181 Phenotype: Holoprosencephaly 4 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 18 Location (GRCh38):3457570 Accession: RCV000007396.1 ID: 2465414 369. Name: TGIF1:c.575C>G (p.Pro192Arg) AND Holoprosencephaly 4 Gene(s): TGIF1 Variation: c.575C>G (p.Pro192Arg) Phenotype: Holoprosencephaly 4 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 18 Location (GRCh38):3456523 Accession: RCV000007395.1 ID: 2465413 370. Name: DHCR7:c.1055G>A (p.Arg352Gln) AND Smith-Lemli-Opitz syndrome Gene(s): DHCR7 Variation: c.1055G>A (p.Arg352Gln) Phenotype: Smith-Lemli-Opitz syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 11 Location (GRCh38):71146794 Accession: RCV000007197.1 ID: 2465297 371. Name: DHCR7:c.839A>G (p.Tyr280Cys) AND Smith-Lemli-Opitz syndrome Gene(s): DHCR7 Variation: c.839A>G (p.Tyr280Cys) Phenotype: Smith-Lemli-Opitz syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 11 Location (GRCh38):71148982 Accession: RCV000007192.1 ID: 2465293 372. Name: DHCR7:c.730G>A (p.Gly244Arg) AND Smith-Lemli-Opitz syndrome Gene(s): DHCR7 Variation: c.730G>A (p.Gly244Arg) Phenotype: Smith-Lemli-Opitz syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 11 Location (GRCh38):71150026 Accession: RCV000007183.2 ID: 2465286 373. Name: DHCR7:c.356A>T (p.His119Leu) AND Smith-Lemli-Opitz syndrome Gene(s): DHCR7 Variation: c.356A>T (p.His119Leu) Phenotype: Smith-Lemli-Opitz syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 11 Location (GRCh38):71153365 Accession: RCV000007182.2 ID: 2465285 374. Name: FLNB:c.5548G>T (p.Gly1850Ter) AND Spondylocarpotarsal synostosis syndrome Gene(s): FLNB Variation: c.5548G>T (p.Gly1850Ter) Phenotype: Spondylocarpotarsal synostosis syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58131770 Accession: RCV000006777.1 ID: 2465021 375. Name: FLNB:c.6010C>T (p.Arg2004Ter) AND Spondylocarpotarsal synostosis syndrome Gene(s): FLNB Variation: c.6010C>T (p.Arg2004Ter) Phenotype: Spondylocarpotarsal synostosis syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58134498 Accession: RCV000006776.1 ID: 2465020 376. Name: RPS26:c.1A>T (p.Met1Leu) AND Diamond-Blackfan anemia 10 Gene(s): RPS26 Variation: c.1A>T (p.Met1Leu) Phenotype: Diamond-Blackfan anemia 10 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):56435951 Accession: RCV000006497.1 ID: 2464834 377. Name: RECQL4:c.3061C>T (p.Arg1021Trp) AND Baller-Gerold syndrome Gene(s): RECQL4 Variation: c.3061C>T (p.Arg1021Trp) Frequency: GMAF: 0.0018(A), GMAF: 0.0018 Phenotype: Baller-Gerold syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):145737702 Accession: RCV000006445.1 ID: 2464797 378. Name: SLC26A2:c.2144C>T (p.Ala715Val) AND Atelosteogenesis type 2 Gene(s): SLC26A2 Variation: c.2144C>T (p.Ala715Val) Frequency: GO-ESP: 0.000153798831 Phenotype: Atelosteogenesis type 2 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 5 Location (GRCh38):149361300 Accession: RCV000004309.1 ID: 2463405 379. Name: SLC26A2:c.764G>A (p.Gly255Glu) AND Atelosteogenesis type 2 Gene(s): SLC26A2 Variation: c.764G>A (p.Gly255Glu) Frequency: GO-ESP: 0.000153775181 Phenotype: Atelosteogenesis type 2 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 5 Location (GRCh38):149359920 Accession: RCV000004308.1 ID: 2463404 380. Name: SOX9:c.462C>G (p.Phe154Leu) AND Camptomelic dysplasia Gene(s): SOX9 Variation: c.462C>G (p.Phe154Leu) Phenotype: Camptomelic dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 17 Location (GRCh38):70118890 Accession: RCV000002623.1 ID: 2462308 381. Name: RPGRIP1L:c.1033C>T (p.Gln345Ter) AND Meckel syndrome type 5 Gene(s): RPGRIP1L Variation: c.1033C>T (p.Gln345Ter) Phenotype: Meckel syndrome type 5 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 16 Location (GRCh38):53705492 Accession: RCV000001128.1 ID: 2461348 382. Name: RPGRIP1L:c.394A>T (p.Arg132Ter) AND Meckel syndrome type 5 Gene(s): RPGRIP1L Variation: c.394A>T (p.Arg132Ter) Phenotype: Meckel syndrome type 5 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 16 Location (GRCh38):53726113 Accession: RCV000001127.1 ID: 2461347 383. Name: FLNB:c.517G>A (p.Ala173Thr) AND Atelosteogenesis type 1 Gene(s): FLNB Variation: c.517G>A (p.Ala173Thr) Phenotype: Atelosteogenesis type 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58062997 Accession: RCV000114316.1 ID: 2452023 384. Name: SEMA3A:c.1303G>A (p.Val435Ile) AND Hypogonadotropic hypogonadism 16 with or without anosmia Gene(s): SEMA3A Variation: c.1303G>A (p.Val435Ile) Frequency: GO-ESP: 0.010456712287, GMAF: 0.0106(T) Phenotype: Hypogonadotropic hypogonadism 16 with or without anosmia Clinical Significance: risk factor Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):83634712 Accession: RCV000032921.1 ID: 2426192 385. Name: FLNA:c.7896G>A (p.Trp2632Ter) AND X-linked periventricular heterotopia Gene(s): FLNA Variation: c.7896G>A (p.Trp2632Ter) Phenotype: X-linked periventricular heterotopia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):153577265 Accession: RCV000022819.15 ID: 2423673 386. Name: COL2A1, IVS25DS, G-A, +1 AND Stickler syndrome type 1 Gene(s): COL2A1 Phenotype: Stickler syndrome type 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000018925.26 ID: 2422012 387. Name: FLNA:c.607G>T (p.Asp203Tyr) AND Oto-palato-digital syndrome, type I Gene(s): FLNA Variation: c.607G>T (p.Asp203Tyr) Phenotype: Oto-palato-digital syndrome, type I Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):153596225 Accession: RCV000012532.23 ID: 2420105 388. Name: PORCN:c.222G>A (p.Trp74Ter) AND Focal dermal hypoplasia Gene(s): PORCN Variation: c.222G>A (p.Trp74Ter) Phenotype: Focal dermal hypoplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):48369768 Accession: RCV000011449.1 ID: 2419200 389. Name: PORCN:c.370C>T (p.Arg124Ter) AND Focal dermal hypoplasia Gene(s): PORCN Variation: c.370C>T (p.Arg124Ter) Phenotype: Focal dermal hypoplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):48370320 Accession: RCV000011448.1 ID: 2419199 390. Name: PORCN:c.178G>A (p.Gly60Arg) AND Focal dermal hypoplasia Gene(s): PORCN Variation: c.178G>A (p.Gly60Arg) Phenotype: Focal dermal hypoplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):48369724 Accession: RCV000011447.4 ID: 2419198 391. Name: LMX1B, 672, G-T, +1 AND Nail-patella syndrome Gene(s): LMX1B Phenotype: Nail-patella syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000007424.1 ID: 2417369 392. Name: LMX1B, 672, G-A, +1 AND Nail-patella syndrome Gene(s): LMX1B Phenotype: Nail-patella syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000007423.1 ID: 2417368 393. Name: SOX9, 583C-T AND Camptomelic dysplasia Gene(s): SOX9 Phenotype: Camptomelic dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000002612.1 ID: 2416118 394. Name: RECQL4, IVS17AS, A-C, -2 AND Baller-Gerold syndrome Gene(s): RECQL4 Phenotype: Baller-Gerold syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000006448.1 ID: 2368137 395. Name: TFAP2A:c.751A>G (p.Arg251Gly) AND Branchiooculofacial syndrome Gene(s): TFAP2A Variation: c.751A>G (p.Arg251Gly) Phenotype: Branchiooculofacial syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):10404742 Accession: RCV000019530.23 ID: 2472723 396. Name: OFD1:c.1303A>C (p.Ser435Arg) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1303A>C (p.Ser435Arg) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: X Location (GRCh38):13774778 Accession: RCV000012293.24 ID: 2468047 397. Name: B3GALTL:c.347+5G>A AND Peters plus syndrome Gene(s): B3GALTL Variation: c.347+5G>A Phenotype: Peters plus syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 13 Location (GRCh38):31821241 Accession: RCV000001327.1 ID: 2461477 398. Name: FGFR1:c.1864C>T (p.Arg622Ter) AND Kallmann syndrome 2 Gene(s): FGFR1 Variation: c.1864C>T (p.Arg622Ter) Phenotype: Kallmann syndrome 2 Clinical Significance: risk factor Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):38272410 Accession: RCV000030926.1 ID: 2477809 399. Name: COL2A1:c.1957C>T (p.Arg653Ter) AND Stickler syndrome type 1 Gene(s): COL2A1 Variation: c.1957C>T (p.Arg653Ter) Phenotype: Stickler syndrome type 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):48377504 Accession: RCV000018938.26 ID: 2472319 400. Name: OFD1:c.413-10T>G AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.413-10T>G Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: X Location (GRCh38):13762524 Accession: RCV000012296.14 ID: 2468049 401. Name: TBX1:c.928G>A (p.Gly310Ser) AND DiGeorge sequence Gene(s): TBX1 Variation: c.928G>A (p.Gly310Ser) Frequency: GMAF: 0.0106, GMAF: 0.0106(A) Phenotype: DiGeorge sequence Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 22 Location (GRCh38):19753444 Accession: RCV000008000.2 ID: 2465845 402. Name: TCOF1:c.754C>T (p.Gln252Ter) AND Treacher collins syndrome 1 Gene(s): TCOF1 Variation: c.754C>T (p.Gln252Ter) Phenotype: Treacher collins syndrome 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 5 Location (GRCh38):149753851 Accession: RCV000004166.2 ID: 2463316 403. Name: TMEM67:c.884A>C (p.Gln295Pro) AND Meckel syndrome type 3 Gene(s): TMEM67 Variation: c.884A>C (p.Gln295Pro) Phenotype: Meckel syndrome type 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):94794684 Accession: RCV000001434.2 ID: 2461535 404. Name: PORCN:c.1094G>A (p.Arg365Gln) AND Focal dermal hypoplasia Gene(s): PORCN Variation: c.1094G>A (p.Arg365Gln) Phenotype: Focal dermal hypoplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):48374470 Accession: RCV000022872.3 ID: 2423713 405. Name: FLRT3:c.290A>G (p.Glu97Gly) AND HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO Gene(s): FLRT3, MACROD2 Variation: c.290A>G (p.Glu97Gly) Phenotype: HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO Clinical Significance: risk factor Review Status: classified by single submitter Chromosome: 20 Location (GRCh38):14307863 Accession: RCV000043602.2 ID: 2489001 406. Name: FGFR1:c.2038C>T (p.Gln680Ter) AND Kallmann syndrome 2 Gene(s): FGFR1 Variation: c.2038C>T (p.Gln680Ter) Phenotype: Kallmann syndrome 2 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):38272087 Accession: RCV000030931.21 ID: 2477813 407. Name: TGFBR2:c.984C>T (p.His328His=) AND Loeys-Dietz syndrome Gene(s): TGFBR2 Variation: c.984C>T (p.His328His=) Frequency: GMAF: 0.0005, GMAF: 0.0005(T) Phenotype: Loeys-Dietz syndrome Clinical Significance: Likely benign Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30713659 Accession: RCV000030551.1 ID: 2477572 408. Name: TGFBR2:c.1266A>G (p.Ala422Ala=) AND Loeys-Dietz syndrome Gene(s): TGFBR2 Variation: c.1266A>G (p.Ala422Ala=) Frequency: GO-ESP: 0.031600799631, GMAF: 0.0280, GMAF: 0.0280(G) Phenotype: Loeys-Dietz syndrome Clinical Significance: Benign Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30715608 Accession: RCV000030547.1 ID: 2477568 409. Name: TGFBR1:c.1125A>C (p.Thr375Thr=) AND Loeys-Dietz syndrome Gene(s): TGFBR1 Variation: c.1125A>C (p.Thr375Thr=) Frequency: GO-ESP: 0.002998616023, GMAF: 0.0028, GMAF: 0.0028(C) Phenotype: Loeys-Dietz syndrome Clinical Significance: Likely benign Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):101907165 Accession: RCV000030538.1 ID: 2477560 410. Name: RAD21:c.1127C>G (p.Pro376Arg) AND Cornelia de Lange syndrome 4 Gene(s): RAD21 Variation: c.1127C>G (p.Pro376Arg) Phenotype: Cornelia de Lange syndrome 4 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):117866518 Accession: RCV000029138.1 ID: 2476362 411. Name: BRIP1:c.1045G>C (p.Ala349Pro) AND Fanconi anemia, complementation group J Gene(s): BRIP1 Variation: c.1045G>C (p.Ala349Pro) Frequency: GO-ESP: 0.000076887590 Phenotype: Fanconi anemia, complementation group J Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 17 Location (GRCh38):59878709 Accession: RCV000023492.1 ID: 2475695 412. Name: MID1:c.712G>T (p.Glu238Ter) AND Opitz-Frias syndrome Gene(s): MID1 Variation: c.712G>T (p.Glu238Ter) Phenotype: Opitz-Frias syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):10491176 Accession: RCV000022867.3 ID: 2475336 413. Name: BMP4:c.592C>T (p.Arg198Ter) AND Microphthalmia syndromic 6 Gene(s): BMP4 Variation: c.592C>T (p.Arg198Ter) Phenotype: Microphthalmia syndromic 6 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 14 Location (GRCh38):54417385 Accession: RCV000022456.26 ID: 2475076 414. Name: FGFR2:c.1124A>G (p.Tyr375Cys) AND Endometrial cancer, somatic Gene(s): FGFR2 Variation: c.1124A>G (p.Tyr375Cys) Phenotype: Endometrial cancer, somatic Clinical Significance: other Review Status: classified by single submitter Chromosome: 10 Location (GRCh38):123274794 Accession: RCV000014199.1 ID: 2469194 415. Name: CDKN1C:c.845C>A (p.Ser282Ter) AND Beckwith-Wiedemann syndrome Gene(s): CDKN1C Variation: c.845C>A (p.Ser282Ter) Phenotype: Beckwith-Wiedemann syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 11 Location (GRCh38):2905340 Accession: RCV000009292.1 ID: 2466697 416. Name: PTCH1:c.2723T>G (p.Val908Gly) AND Holoprosencephaly 7 Gene(s): PTCH1 Variation: c.2723T>G (p.Val908Gly) Phenotype: Holoprosencephaly 7 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):98222046 Accession: RCV000008708.1 ID: 2466293 417. Name: EYA1:c.1081C>T (p.Arg361Ter) AND Melnick-Fraser syndrome Gene(s): EYA1 Variation: c.1081C>T (p.Arg361Ter) Phenotype: Melnick-Fraser syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):72156897 Accession: RCV000008406.1 ID: 2466105 418. Name: EYA1:c.1081C>T (p.Arg361Ter) AND Branchiootic syndrome Gene(s): EYA1 Variation: c.1081C>T (p.Arg361Ter) Phenotype: Branchiootic syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):72156897 Accession: RCV000008405.1 ID: 2466104 419. Name: FLNB:c.2251G>C (p.Gly751Arg) AND Atelosteogenesis type 3 Gene(s): FLNB Variation: c.2251G>C (p.Gly751Arg) Phenotype: Atelosteogenesis type 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58095354 Accession: RCV000006773.2 ID: 2465017 420. Name: FLNB:c.604A>G (p.Met202Val) AND Atelosteogenesis type 3 Gene(s): FLNB Variation: c.604A>G (p.Met202Val) Phenotype: Atelosteogenesis type 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58064506 Accession: RCV000006772.2 ID: 2465016 421. Name: FLNB:c.604A>G (p.Met202Val) AND Atelosteogenesis type 1 Gene(s): FLNB Variation: c.604A>G (p.Met202Val) Phenotype: Atelosteogenesis type 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58064506 Accession: RCV000006771.2 ID: 2465015 422. Name: FLNB:c.518C>T (p.Ala173Val) AND Atelosteogenesis type 1 Gene(s): FLNB Variation: c.518C>T (p.Ala173Val) Phenotype: Atelosteogenesis type 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58062998 Accession: RCV000006770.2 ID: 2465014 423. Name: RPL5:c.67C>T (p.Arg23Ter) AND Aase syndrome Gene(s): RPL5, FAM69A Variation: c.67C>T (p.Arg23Ter) Phenotype: Aase syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):93299009 Accession: RCV000006556.1 ID: 2464878 424. Name: COL2A1, IVS17, A-G, -2 AND Stickler syndrome type 1 Gene(s): COL2A1 Phenotype: Stickler syndrome type 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000018917.26 ID: 2422004 425. Name: FLNA:c.760G>A (p.Glu254Lys) AND Oto-palato-digital syndrome, type II Gene(s): FLNA Variation: c.760G>A (p.Glu254Lys) Phenotype: Oto-palato-digital syndrome, type II Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):153595873 Accession: RCV000012522.13 ID: 2420095 426. Name: FLNA:c.620C>T (p.Pro207Leu) AND Oto-palato-digital syndrome, type I Gene(s): FLNA Variation: c.620C>T (p.Pro207Leu) Phenotype: Oto-palato-digital syndrome, type I Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):153596212 Accession: RCV000012521.15 ID: 2420094 427. Name: RPL5:c.664C>T (p.Gln222Ter) AND Aase syndrome Gene(s): RPL5, FAM69A Variation: c.664C>T (p.Gln222Ter) Phenotype: Aase syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):93303149 Accession: RCV000087039.2 ID: 2407853 428. Name: RPL5:c.244G>T (p.Glu82Ter) AND Aase syndrome Gene(s): RPL5, FAM69A Variation: c.244G>T (p.Glu82Ter) Phenotype: Aase syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):93300390 Accession: RCV000087038.2 ID: 2407852 429. Name: DHCR7, IVS5DS, A-T, +3 AND Smith-Lemli-Opitz syndrome Gene(s): DHCR7 Phenotype: Smith-Lemli-Opitz syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000023212.2 ID: 2380092 430. Name: DHCR7, TRP37TER AND Smith-Lemli-Opitz syndrome Gene(s): DHCR7 Phenotype: Smith-Lemli-Opitz syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000007188.1 ID: 2368860 431. Name: COL11A2, IVS, G-A, +1 AND Stickler syndrome, type 3 Gene(s): COL11A2 Phenotype: Stickler syndrome, type 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000018657.26 ID: 2272787 432. Name: FGFR2:c.755C>G (p.Ser252Trp) AND Endometrial cancer, somatic Gene(s): FGFR2 Variation: c.755C>G (p.Ser252Trp) Phenotype: Endometrial cancer, somatic Clinical Significance: other Review Status: classified by single submitter Chromosome: 10 Location (GRCh38):123279677 Accession: RCV000014192.1 ID: 2420636 433. Name: KANSL1:c.1652+1G>A AND 17q21.31 microdeletion syndrome Gene(s): KANSL1 Variation: c.1652+1G>A Phenotype: 17q21.31 microdeletion syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 17 Location (GRCh38):44144914 Accession: RCV000024374.2 ID: 2476143 434. Name: FGFR2:c.758C>G (p.Pro253Arg) AND Acrocephalosyndactyly type I Gene(s): FGFR2 Variation: c.758C>G (p.Pro253Arg) Phenotype: Acrocephalosyndactyly type I Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 10 Location (GRCh38):123279674 Accession: RCV000014193.23 ID: 2469188 435. Name: PIGV:c.1022C>A (p.Ala341Glu) AND Hyperphosphatasia with mental retardation syndrome 1 Gene(s): PIGV Variation: c.1022C>A (p.Ala341Glu) Frequency: GO-ESP: 0.000230662771 Phenotype: Hyperphosphatasia with mental retardation syndrome 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):27121547 Accession: RCV000001347.2 ID: 2546120 436. Name: SIX3:c.385G>T (p.Glu129Ter) AND Holoprosencephaly 2 Gene(s): SIX3 Variation: c.385G>T (p.Glu129Ter) Phenotype: Holoprosencephaly 2 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 2 Location (GRCh38):45169628 Accession: RCV000023328.1 ID: 2475589 437. Name: SMAD3:c.1081G>T (p.Glu361Ter) AND Loeys-Dietz syndrome type 3 Gene(s): SMAD3 Variation: c.1081G>T (p.Glu361Ter) Phenotype: Loeys-Dietz syndrome type 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 15 Location (GRCh38):67479774 Accession: RCV000023250.2 ID: 2475551 438. Name: SMAD3:c.788C>T (p.Pro263Leu) AND Loeys-Dietz syndrome type 3 Gene(s): SMAD3 Variation: c.788C>T (p.Pro263Leu) Phenotype: Loeys-Dietz syndrome type 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 15 Location (GRCh38):67473708 Accession: RCV000023249.2 ID: 2475550 439. Name: SMAD3:c.335C>T (p.Ala112Val) AND Loeys-Dietz syndrome type 3 Gene(s): SMAD3 Variation: c.335C>T (p.Ala112Val) Phenotype: Loeys-Dietz syndrome type 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 15 Location (GRCh38):67457361 Accession: RCV000023247.2 ID: 2475549 440. Name: SMAD3:c.715G>A (p.Glu239Lys) AND Loeys-Dietz syndrome type 3 Gene(s): SMAD3 Variation: c.715G>A (p.Glu239Lys) Phenotype: Loeys-Dietz syndrome type 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 15 Location (GRCh38):67473635 Accession: RCV000023246.2 ID: 2475548 441. Name: SMAD3:c.836G>A (p.Arg279Lys) AND Loeys-Dietz syndrome type 3 Gene(s): SMAD3 Variation: c.836G>A (p.Arg279Lys) Phenotype: Loeys-Dietz syndrome type 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 15 Location (GRCh38):67473756 Accession: RCV000023245.2 ID: 2475547 442. Name: SMAD3:c.782C>T (p.Thr261Ile) AND Loeys-Dietz syndrome type 3 Gene(s): SMAD3 Variation: c.782C>T (p.Thr261Ile) Phenotype: Loeys-Dietz syndrome type 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 15 Location (GRCh38):67473702 Accession: RCV000023243.2 ID: 2475546 443. Name: SMAD3:c.859C>T (p.Arg287Trp) AND Loeys-Dietz syndrome type 3 Gene(s): SMAD3 Variation: c.859C>T (p.Arg287Trp) Phenotype: Loeys-Dietz syndrome type 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 15 Location (GRCh38):67473779 Accession: RCV000023241.2 ID: 2475545 444. Name: GLI3:c.3439G>T (p.Glu1147Ter) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.3439G>T (p.Glu1147Ter) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 7 Location (GRCh38):42005232 Accession: RCV000014829.24 ID: 2469656 445. Name: FGF8:c.686C>T (p.Thr229Met) AND Kallmann syndrome 6 Gene(s): FGF8 Variation: c.686C>T (p.Thr229Met) Frequency: GO-ESP: 0.000076982294 Phenotype: Kallmann syndrome 6 Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 10 Location (GRCh38):103530135 Accession: RCV000009697.1 ID: 2466973 446. Name: KMT2D:c.16391C>T (p.Thr5464Met) AND Kabuki make-up syndrome Gene(s): KMT2D Variation: c.16391C>T (p.Thr5464Met) Phenotype: Kabuki make-up syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):49416084 Accession: RCV000007975.2 ID: 2465827 447. Name: KMT2D:c.16360C>T (p.Arg5454Ter) AND Kabuki make-up syndrome Gene(s): KMT2D Variation: c.16360C>T (p.Arg5454Ter) Phenotype: Kabuki make-up syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):49416115 Accession: RCV000007974.3 ID: 2465826 448. Name: KMT2D:c.13579A>T (p.Lys4527Ter) AND Kabuki make-up syndrome Gene(s): KMT2D Variation: c.13579A>T (p.Lys4527Ter) Phenotype: Kabuki make-up syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):49424768 Accession: RCV000007973.2 ID: 2465825 449. Name: KMT2D:c.15536G>A (p.Arg5179His) AND Kabuki make-up syndrome Gene(s): KMT2D Variation: c.15536G>A (p.Arg5179His) Phenotype: Kabuki make-up syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):49420213 Accession: RCV000007972.2 ID: 2465824 450. Name: DHCR7:c.866C>T (p.Thr289Ile) AND Smith-Lemli-Opitz syndrome Gene(s): DHCR7 Variation: c.866C>T (p.Thr289Ile) Phenotype: Smith-Lemli-Opitz syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 11 Location (GRCh38):71148955 Accession: RCV000007191.1 ID: 2465292 451. Name: DHCR7:c.1054C>T (p.Arg352Trp) AND Smith-Lemli-Opitz syndrome Gene(s): DHCR7 Variation: c.1054C>T (p.Arg352Trp) Phenotype: Smith-Lemli-Opitz syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 11 Location (GRCh38):71146795 Accession: RCV000007189.1 ID: 2465291 452. Name: FLNB:c.703T>C (p.Ser235Pro) AND Boomerang dysplasia Gene(s): FLNB Variation: c.703T>C (p.Ser235Pro) Phenotype: Boomerang dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58067419 Accession: RCV000006775.2 ID: 2465019 453. Name: FLNB:c.512T>G (p.Leu171Arg) AND Boomerang dysplasia Gene(s): FLNB Variation: c.512T>G (p.Leu171Arg) Phenotype: Boomerang dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58062992 Accession: RCV000006774.2 ID: 2465018 454. Name: FLNB:c.4819C>T (p.Arg1607Ter) AND Spondylocarpotarsal synostosis syndrome Gene(s): FLNB Variation: c.4819C>T (p.Arg1607Ter) Phenotype: Spondylocarpotarsal synostosis syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 3 Location (GRCh38):58121853 Accession: RCV000006769.2 ID: 2465013 455. Name: FLNB:c.2452C>T (p.Arg818Ter) AND Spondylocarpotarsal synostosis syndrome Gene(s): FLNB Variation: c.2452C>T (p.Arg818Ter) Phenotype: Spondylocarpotarsal synostosis syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 3 Location (GRCh38):58095865 Accession: RCV000006768.2 ID: 2465012 456. Name: SEPT9:c.-134G>C AND Hereditary neuralgic amyotrophy Gene(s): SEPT9 Variation: c.-134G>C Phenotype: Hereditary neuralgic amyotrophy Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 17 Location (GRCh38):75316275 Accession: RCV000006223.1 ID: 2464632 457. Name: ZEB2:c.3356A>G (p.Gln1119Arg) AND Mowat-Wilson syndrome Gene(s): ZEB2 Variation: c.3356A>G (p.Gln1119Arg) Phenotype: Mowat-Wilson syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 2 Location (GRCh38):145147307 Accession: RCV000005034.1 ID: 2463918 458. Name: ZEB2:c.1645A>T (p.Arg549Ter) AND Mowat-Wilson syndrome Gene(s): ZEB2 Variation: c.1645A>T (p.Arg549Ter) Phenotype: Mowat-Wilson syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 2 Location (GRCh38):145157109 Accession: RCV000005020.1 ID: 2463915 459. Name: DHCR7:c.1210C>T (p.Arg404Cys) AND Smith-Lemli-Opitz syndrome Gene(s): DHCR7 Variation: c.1210C>T (p.Arg404Cys) Phenotype: Smith-Lemli-Opitz syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 11 Location (GRCh38):71146639 Accession: RCV000007190.1 ID: 2368862 460. Name: CHD7:c.2442+5G>C AND CHARGE association Gene(s): CHD7 Variation: c.2442+5G>C Phenotype: CHARGE association Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):61714157 Accession: RCV000002113.1 ID: 2461968 461. Name: TGFBR1:c.521G>T (p.Gly174Val) AND Loeys-Dietz syndrome 1 Gene(s): TGFBR1 Variation: c.521G>T (p.Gly174Val) Phenotype: Loeys-Dietz syndrome 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):101894968 Accession: RCV000013353.16 ID: 2468630 462. Name: B3GALTL:c.660+1G>A AND Peters plus syndrome Gene(s): B3GALTL Variation: c.660+1G>A Frequency: GO-ESP: 0.000538378711 Phenotype: Peters plus syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 13 Location (GRCh38):31843415 Accession: RCV000001326.1 ID: 2461476 463. Name: FGFR2:c.755C>G (p.Ser252Trp) AND Acrocephalosyndactyly type I Gene(s): FGFR2 Variation: c.755C>G (p.Ser252Trp) Phenotype: Acrocephalosyndactyly type I Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 10 Location (GRCh38):123279677 Accession: RCV000014191.22 ID: 2420635 464. Name: RNASEH2A:c.109G>A (p.Gly37Ser) AND Aicardi Goutieres syndrome 4 Gene(s): RNASEH2A Variation: c.109G>A (p.Gly37Ser) Phenotype: Aicardi Goutieres syndrome 4 Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 19 Location (GRCh38):12917596 Accession: RCV000004904.3 ID: 2463837 465. Name: TGFBR2:c.1159G>T (p.Val387Leu) AND Loeys-Dietz syndrome Gene(s): TGFBR2 Variation: c.1159G>T (p.Val387Leu) Frequency: GMAF: 0.0005(A), GMAF: 0.0005 Phenotype: Loeys-Dietz syndrome Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30713834 Accession: RCV000030544.1 ID: 2477565 466. Name: EGFR:c.2369C>T (p.Thr790Met) AND Nonsmall cell lung cancer, resistance to tyrosine kinase inhibitor in Gene(s): EGFR Variation: c.2369C>T (p.Thr790Met) Phenotype: Nonsmall cell lung cancer, resistance to tyrosine kinase inhibitor in Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):55249071 Accession: RCV000018088.26 ID: 2471781 467. Name: FGFR2:c.1124A>G (p.Tyr375Cys) AND Cutis Gyrata syndrome of Beare and Stevenson Gene(s): FGFR2 Variation: c.1124A>G (p.Tyr375Cys) Phenotype: Cutis Gyrata syndrome of Beare and Stevenson Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 10 Location (GRCh38):123274794 Accession: RCV000014198.16 ID: 2469193 468. Name: TGFBR2:c.1483C>T (p.Arg495Ter) AND Loeys-Dietz syndrome type 1B Gene(s): TGFBR2 Variation: c.1483C>T (p.Arg495Ter) Phenotype: Loeys-Dietz syndrome type 1B Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30729962 Accession: RCV000013344.22 ID: 2468623 469. Name: TGFBR2:c.1280C>T (p.Pro427Leu) AND Loeys-Dietz syndrome type 1B Gene(s): TGFBR2 Variation: c.1280C>T (p.Pro427Leu) Phenotype: Loeys-Dietz syndrome type 1B Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30715622 Accession: RCV000013343.22 ID: 2468622 470. Name: TGFBR2:c.1273A>G (p.Met425Val) AND Loeys-Dietz syndrome type 1B Gene(s): TGFBR2 Variation: c.1273A>G (p.Met425Val) Phenotype: Loeys-Dietz syndrome type 1B Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30715615 Accession: RCV000013342.16 ID: 2468621 471. Name: TGFBR2:c.1609C>T (p.Arg537Cys) AND Loeys-Dietz syndrome type 1B Gene(s): TGFBR2 Variation: c.1609C>T (p.Arg537Cys) Phenotype: Loeys-Dietz syndrome type 1B Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30732996 Accession: RCV000013331.16 ID: 2468610 472. Name: TGFBR2:c.1346C>T (p.Ser449Phe) AND Loeys-Dietz syndrome type 1B Gene(s): TGFBR2 Variation: c.1346C>T (p.Ser449Phe) Phenotype: Loeys-Dietz syndrome type 1B Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30715688 Accession: RCV000013330.24 ID: 2468609 473. Name: SEPT9:c.278C>T (p.Ser93Phe) AND Hereditary neuralgic amyotrophy Gene(s): SEPT9 Variation: c.278C>T (p.Ser93Phe) Phenotype: Hereditary neuralgic amyotrophy Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 17 Location (GRCh38):75398396 Accession: RCV000006222.1 ID: 2464631 474. Name: ZEB2:c.2083C>T (p.Arg695Ter) AND Mowat-Wilson syndrome Gene(s): ZEB2 Variation: c.2083C>T (p.Arg695Ter) Phenotype: Mowat-Wilson syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 2 Location (GRCh38):145156671 Accession: RCV000005021.1 ID: 2463916 475. Name: POMT1:c.226G>A (p.Gly76Arg) AND Walker-Warburg congenital muscular dystrophy Gene(s): POMT1 Variation: c.226G>A (p.Gly76Arg) Phenotype: Walker-Warburg congenital muscular dystrophy Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):134381604 Accession: RCV000003394.2 ID: 2462836 476. Name: CHD7:c.5418C>G (p.Tyr1806Ter) AND CHARGE association Gene(s): CHD7 Variation: c.5418C>G (p.Tyr1806Ter) Phenotype: CHARGE association Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):61763065 Accession: RCV000002102.2 ID: 2461962 477. Name: CHD7, IVS26AS, G-A, -7 AND CHARGE association Gene(s): CHD7 Phenotype: CHARGE association Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000002103.2 ID: 2415957 478. Name: FGFR1:c.749G>A (p.Arg250Gln) AND Kallmann syndrome 2 Gene(s): FGFR1 Variation: c.749G>A (p.Arg250Gln) Phenotype: Kallmann syndrome 2 Clinical Significance: risk factor Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):38282214 Accession: RCV000030940.2 ID: 2477821 479. Name: DNMT1:c.1532A>G (p.Tyr511Cys) AND NEUROPATHY, HEREDITARY SENSORY, TYPE IE Gene(s): DNMT1 Variation: c.1532A>G (p.Tyr511Cys) Phenotype: NEUROPATHY, HEREDITARY SENSORY, TYPE IE Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 19 Location (GRCh38):10265693 Accession: RCV000022529.25 ID: 2475122 480. Name: TGFBR2, IVS1, A-G, -2 AND Loeys-Dietz syndrome type 1B Gene(s): TGFBR2 Phenotype: Loeys-Dietz syndrome type 1B Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000013338.24 ID: 2468617 481. Name: TGFBR2:c.1582C>T (p.Arg528Cys) AND Loeys-Dietz syndrome type 1B Gene(s): TGFBR2 Variation: c.1582C>T (p.Arg528Cys) Phenotype: Loeys-Dietz syndrome type 1B Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30732969 Accession: RCV000013337.16 ID: 2468616 482. Name: TGFBR2:c.1069G>T (p.Gly357Trp) AND Loeys-Dietz syndrome type 1B Gene(s): TGFBR2 Variation: c.1069G>T (p.Gly357Trp) Phenotype: Loeys-Dietz syndrome type 1B Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30713744 Accession: RCV000013334.16 ID: 2468613 483. Name: TGFBR2:c.1063G>C (p.Ala355Pro) AND Loeys-Dietz syndrome type 1B Gene(s): TGFBR2 Variation: c.1063G>C (p.Ala355Pro) Phenotype: Loeys-Dietz syndrome type 1B Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30713738 Accession: RCV000013333.23 ID: 2468612 484. Name: TGFBR2:c.1006T>A (p.Tyr336Asn) AND Loeys-Dietz syndrome type 1B Gene(s): TGFBR2 Variation: c.1006T>A (p.Tyr336Asn) Phenotype: Loeys-Dietz syndrome type 1B Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30713681 Accession: RCV000013332.22 ID: 2468611 485. Name: DHCR7:c.453G>A (p.Trp151Ter) AND Smith-Lemli-Opitz syndrome Gene(s): DHCR7 Variation: c.453G>A (p.Trp151Ter) Phenotype: Smith-Lemli-Opitz syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 11 Location (GRCh38):71152446 Accession: RCV000007186.1 ID: 2465289 486. Name: SEPT9:c.262C>T (p.Arg88Trp) AND Hereditary neuralgic amyotrophy Gene(s): SEPT9 Variation: c.262C>T (p.Arg88Trp) Phenotype: Hereditary neuralgic amyotrophy Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 17 Location (GRCh38):75398380 Accession: RCV000006221.1 ID: 2464630 487. Name: CHD7:c.2501C>T (p.Ser834Phe) AND CHARGE association Gene(s): CHD7 Variation: c.2501C>T (p.Ser834Phe) Phenotype: CHARGE association Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):61728948 Accession: RCV000002111.1 ID: 2461967 488. Name: TMEM216:c.341T>G (p.Leu114Arg) AND Meckel syndrome type 2 Gene(s): TMEM216 Variation: c.341T>G (p.Leu114Arg) Phenotype: Meckel syndrome type 2 Clinical Significance: conflicting data from submitters Review Status: classified by multiple submitters Chromosome: 11 Location (GRCh38):61165357 Accession: RCV000000222.3 ID: 2460756 489. Name: TGFBR1:c.953T>G (p.Met318Arg) AND Loeys-Dietz syndrome 1 Gene(s): TGFBR1 Variation: c.953T>G (p.Met318Arg) Phenotype: Loeys-Dietz syndrome 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):101904965 Accession: RCV000119102.1 ID: 2537868 490. Name: TGFBR2:c.1119G>A (p.Met373Ile) AND Loeys-Dietz syndrome Gene(s): TGFBR2 Variation: c.1119G>A (p.Met373Ile) Frequency: GO-ESP: 0.001153313855, GMAF: 0.0005(A), GMAF: 0.0005 Phenotype: Loeys-Dietz syndrome Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30713794 Accession: RCV000030541.1 ID: 2477562 491. Name: TGFBR1:c.1460G>A (p.Arg487Gln) AND Loeys-Dietz syndrome 1 Gene(s): TGFBR1 Variation: c.1460G>A (p.Arg487Gln) Phenotype: Loeys-Dietz syndrome 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):101911535 Accession: RCV000013351.22 ID: 2468628 492. Name: TGFBR1:c.599C>T (p.Thr200Ile) AND Loeys-Dietz syndrome 1 Gene(s): TGFBR1 Variation: c.599C>T (p.Thr200Ile) Phenotype: Loeys-Dietz syndrome 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):101900165 Accession: RCV000013347.23 ID: 2468625 493. Name: TGFBR1:c.1199A>G (p.Asp400Gly) AND Loeys-Dietz syndrome 1 Gene(s): TGFBR1 Variation: c.1199A>G (p.Asp400Gly) Phenotype: Loeys-Dietz syndrome 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):101908835 Accession: RCV000013346.23 ID: 2468624 494. Name: TGFBR2:c.1472-2A>G AND Loeys-Dietz syndrome type 1B Gene(s): TGFBR2 Variation: c.1472-2A>G Phenotype: Loeys-Dietz syndrome type 1B Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30729874 Accession: RCV000013341.16 ID: 2468620 495. Name: TGFBR2:c.1379G>A (p.Arg460His) AND Loeys-Dietz syndrome type 1B Gene(s): TGFBR2 Variation: c.1379G>A (p.Arg460His) Phenotype: Loeys-Dietz syndrome type 1B Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30715721 Accession: RCV000013340.24 ID: 2468619 496. Name: TGFBR2:c.1378C>T (p.Arg460Cys) AND Loeys-Dietz syndrome type 1B Gene(s): TGFBR2 Variation: c.1378C>T (p.Arg460Cys) Phenotype: Loeys-Dietz syndrome type 1B Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30715720 Accession: RCV000013339.22 ID: 2468618 497. Name: TGFBR2:c.923T>C (p.Leu308Pro) AND Loeys-Dietz syndrome type 1B Gene(s): TGFBR2 Variation: c.923T>C (p.Leu308Pro) Phenotype: Loeys-Dietz syndrome type 1B Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30713598 Accession: RCV000013329.23 ID: 2468608 498. Name: TGFBR2:c.1524G>A (p.Gln508Gln=) AND Loeys-Dietz syndrome type 1B Gene(s): TGFBR2 Variation: c.1524G>A (p.Gln508Gln=) Phenotype: Loeys-Dietz syndrome type 1B Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30730003 Accession: RCV000013327.24 ID: 2468607 499. Name: DHCR7:c.976G>T (p.Val326Leu) AND Smith-Lemli-Opitz syndrome Gene(s): DHCR7 Variation: c.976G>T (p.Val326Leu) Phenotype: Smith-Lemli-Opitz syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 11 Location (GRCh38):71146873 Accession: RCV000007187.1 ID: 2465290 500. Name: SLC26A2:c.835C>T (p.Arg279Trp) AND Atelosteogenesis type 2 Gene(s): SLC26A2 Variation: c.835C>T (p.Arg279Trp) Frequency: GO-ESP: 0.001153313855, GMAF: 0.0005(T), GMAF: 0.0005 Phenotype: Atelosteogenesis type 2 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 5 Location (GRCh38):149359991 Accession: RCV000004305.1 ID: 2463401 501. Name: TGFBR1:c.1459C>T (p.Arg487Trp) AND Loeys-Dietz syndrome 1 Gene(s): TGFBR1 Variation: c.1459C>T (p.Arg487Trp) Phenotype: Loeys-Dietz syndrome 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):101911534 Accession: RCV000013352.16 ID: 2468629 502. Name: TGFBR2:c.1583G>A (p.Arg528His) AND Loeys-Dietz syndrome type 1B Gene(s): TGFBR2 Variation: c.1583G>A (p.Arg528His) Phenotype: Loeys-Dietz syndrome type 1B Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30732970 Accession: RCV000013335.23 ID: 2468614 503. Name: DHCR7:c.278C>T (p.Thr93Met) AND Smith-Lemli-Opitz syndrome Gene(s): DHCR7 Variation: c.278C>T (p.Thr93Met) Frequency: GO-ESP: 0.000076994148 Phenotype: Smith-Lemli-Opitz syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 11 Location (GRCh38):71155082 Accession: RCV000007185.1 ID: 2465288 504. Name: TGFBR2:c.1151A>G (p.Asn384Ser) AND Loeys-Dietz syndrome Gene(s): TGFBR2 Variation: c.1151A>G (p.Asn384Ser) Phenotype: Loeys-Dietz syndrome Clinical Significance: Likely pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30713826 Accession: RCV000030542.1 ID: 2477563 505. Name: TGFBR1:c.1460G>C (p.Arg487Pro) AND Loeys-Dietz syndrome 1 Gene(s): TGFBR1 Variation: c.1460G>C (p.Arg487Pro) Phenotype: Loeys-Dietz syndrome 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):101911535 Accession: RCV000013348.24 ID: 2468626 506. Name: TGFBR1:c.722C>T (p.Ser241Leu) AND Loeys-Dietz syndrome Gene(s): TGFBR1 Variation: c.722C>T (p.Ser241Leu) Phenotype: Loeys-Dietz syndrome Clinical Significance: Likely pathogenic Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):101900288 Accession: RCV000030540.1 ID: 2477561 507. Name: TGFBR1:c.722C>T (p.Ser241Leu) AND Loeys-Dietz syndrome 1 Gene(s): TGFBR1 Variation: c.722C>T (p.Ser241Leu) Phenotype: Loeys-Dietz syndrome 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):101900288 Accession: RCV000013350.23 ID: 2468627 508. Name: KCNJ2:c.199C>T (p.Arg67Trp) AND Andersen Tawil syndrome Gene(s): KCNJ2 Variation: c.199C>T (p.Arg67Trp) Phenotype: Andersen Tawil syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 17 Location (GRCh38):68171379 Accession: RCV000009478.1 ID: 2466842 509. Name: DHCR7:c.832-1G>C AND Smith-Lemli-Opitz syndrome Gene(s): DHCR7 Variation: c.832-1G>C Phenotype: Smith-Lemli-Opitz syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 11 Location (GRCh38):71148990 Accession: RCV000007178.2 ID: 2465284 510. Name: TGFBR2:c.338+7A>G AND Loeys-Dietz syndrome Gene(s): TGFBR2 Variation: c.338+7A>G Frequency: GO-ESP: 0.321543902814, GMAF: 0.4252(G), GMAF: 0.4252 Phenotype: Loeys-Dietz syndrome Clinical Significance: Benign Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):30686414 Accession: RCV000030549.1 ID: 2477570 511. Name: FGFR3:c.749C>G (p.Pro250Arg) AND Saethre-Chotzen syndrome Gene(s): FGFR3 Variation: c.749C>G (p.Pro250Arg) Phenotype: Saethre-Chotzen syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 4 Location (GRCh38):1803571 Accession: RCV000017747.22 ID: 2471582 512. Name: MTHFR:c.665C>T (p.Ala222Val) AND MTHFR deficiency, thermolabile type Gene(s): MTHFR Variation: c.665C>T (p.Ala222Val) Frequency: GO-ESP: 0.270567430417, GMAF: 0.3246(A) Phenotype: MTHFR deficiency, thermolabile type Clinical Significance: Benign Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):11856378 Accession: RCV000003697.3 ID: 2416454 513. Name: COMT:c.472G>A (p.Val158Met) AND CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM Gene(s): COMT Variation: c.472G>A (p.Val158Met) Frequency: GO-ESP: 0.451483930494, GMAF: 0.3903(A), GMAF: 0.3903 Phenotype: CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM Clinical Significance: Benign Review Status: classified by single submitter Chromosome: 22 Location (GRCh38):19951271 Accession: RCV000019156.2 ID: 2472475