1. Name: nsv529083 AND Cleft palate, isolated Gene(s): DUSP22 Phenotype: Cleft palate, isolated Clinical Significance: Benign Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):259528-339802 Accession: RCV000050415.1 ID: 2183501 2. Name: nsv532151 AND Cleft upper lip Gene(s): EYS Phenotype: Cleft upper lip Clinical Significance: Benign Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):65155808-66302808 Accession: RCV000053471.2 ID: 2189614 3. Name: nsv529803 AND Facial cleft Gene(s): IGSF6, METTL9, OTOA Phenotype: Facial cleft Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 16 Location (GRCh38):21612313-21752009 Accession: RCV000051264.2 ID: 2185200 4. Name: nsv529479 AND Cleft palate, isolated Gene(s): BMP2, PLCB1, HAO1, TMX4 Phenotype: Cleft palate, isolated Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 20 Location (GRCh38):6317254-8558193 Accession: RCV000050903.2 ID: 2184477 5. Name: nsv491621 AND Cleft upper lip Gene(s): GTF2H2, NAIP, SMN1, SERF1A Phenotype: Cleft upper lip Clinical Significance: Benign Review Status: classified by single submitter Chromosome: 5 Location (GRCh38):69732192-70587018 Accession: RCV000050270.1 ID: 2183211 6. Name: nsv529532 AND Cleft palate, isolated Gene(s): NUDT1, MAD1L1, EIF3B, SNX8, FTSJ2, CHST12 Phenotype: Cleft palate, isolated Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):2149076-2452186 Accession: RCV000050962.1 ID: 2184596 7. Name: SUMO1, DEL AND Orofacial cleft 10 Gene(s): SUMO1 Phenotype: Orofacial cleft 10 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000008068.1 ID: 2369728 8. Name: TBX22, 1-BP DEL, 671C AND Cleft palate with ankyloglossia Gene(s): TBX22 Phenotype: Cleft palate with ankyloglossia Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000012085.2 ID: 2373631 9. Name: TBX22, 1-BP DEL, 1252G AND Cleft palate X-linked Gene(s): TBX22 Phenotype: Cleft palate X-linked Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000012090.12 ID: 2373636 10. Name: PVRL1, 1-BP DEL AND Cleft lip/palate-ectodermal dysplasia syndrome Gene(s): PVRL1 Phenotype: Cleft lip/palate-ectodermal dysplasia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000009533.3 ID: 2371164 11. Name: EFTUD2, IVS27, 1-BP DEL, +1 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: RCV000033146.2 ID: 2426249 12. Name: nsv531579 AND Cleft palate, isolated Gene(s): ADARB1, COL6A1, COL6A2, PRMT2, LSS, PCNT, S100B, SLC19A1, MCM3AP, FTCD, DIP2A, POFUT2, PCBP3, C21orf58, YBEY, COL18A1, SPATC1L Phenotype: Cleft palate, isolated Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 21 Location (GRCh38):46558236-48090317 Accession: RCV000052865.1 ID: 2436929 13. Name: EFTUD2, 1-BP DEL, NT1758 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: RCV000023355.3 ID: 2423918 14. Name: nsv532930 AND Cleft upper lip Gene(s): CDH17, GEM, CCNE2, RAD54B, , PDP1, ESRP1, INTS8, PLEKHF2, TMEM67, TP53INP1, FAM92A1, NDUFAF6, C8orf37, TRIQK, DPY19L4, C8orf87, RBM12B, FSBP Phenotype: Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):93295407-96798671 Accession: RCV000054265.2 ID: 2191203 15. Name: nsv529888 AND Cleft palate, isolated Gene(s): CSF2RB, IL2RB, LGALS2, MFNG, MPST, NCF4, PVALB, RAC2, SSTR3, TST, CACNG2, IFT27, CDC42EP1, SH3BP1, GGA1, CYTH4, CARD10, PDXP, KCTD17, ELFN2, C1QTNF6, TMPRSS6, TEX33 Phenotype: Cleft palate, isolated Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 22 Location (GRCh38):36948423-38065922 Accession: RCV000051365.1 ID: 2185402 16. Name: nsv497981 AND Cleft palate, isolated Gene(s): CSNK2A1, FKBP1A, SOX12, TCF15, PSMF1, SNPH, SIRPB1, RBCK1, SDCBP2, ANGPT4, TMEM74B, SIRPG, NSFL1C, TRIB3, NRSN2, DEFB126, FAM110A, ZCCHC3, SCRT2, SLC52A3, TBC1D20, SIRPD, C20orf96, SRXN1, DEFB127, DEFB129, DEFB125, DEFB128, SIRPB2, RSPO4, DEFB132, C20orf202, RAD21L1 Phenotype: Cleft palate, isolated Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 20 Location (GRCh38):70580-1833123 Accession: RCV000050373.1 ID: 2183417 17. Name: nsv531515 AND Bilateral cleft palate Gene(s): APP, ATP5J, CXADR, GABPA, NCAM2, TMPRSS15, HSPA13, NRIP1, ADAMTS1, RWDD2B, USP16, CCT8, BTG3, ADAMTS5, LTN1, N6AMT1, USP25, RBM11, MRPL39, C21orf91, MAP3K7CL, JAM2, SAMSN1, CYYR1, CHODL, LIPI, ABCC13, POTED, MIRLET7C, MIR125B2, MIR155, MIR99A Phenotype: Bilateral cleft palate Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 21 Location (GRCh38):14566666-30629529 Accession: RCV000052798.1 ID: 2436902 18. Name: nsv529050 AND Cleft palate, isolated Gene(s): CLDN4, CLDN3, ELN, GPER1, GTF2I, LIMK1, RFC2, STX1A, EIF4H, CLIP2, LAT2, MAFK, FZD9, MAD1L1, FKBP6, BAZ1B, BCL7B, GTF2IRD1, ADAP1, SUN1, INTS1, TBL2, MLXIPL, GET4, CYP2W1, MICALL2, ABHD11, PSMG3, DNAJC30, C7orf50, ZFAND2A, COX19, WBSCR22, GPR146, WBSCR28, WBSCR27, VPS37D, LINC00035, TMEM184A, UNCX, ELFN1, MIR590 Phenotype: Cleft palate, isolated Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):72766313-74133332 Accession: RCV000050384.1 ID: 2435731 19. Name: nsv530197 AND Cleft palate, isolated Gene(s): ADD1, ADRA2C, ATP5I, CTBP1, DGKQ, FGFR3, GAK, GRK4, HTT, HGFAC, IDUA, LETM1, LRPAP1, MSX1, MYL5, PDE6B, RGS12, RNF4, SH3BP2, WHSC1, NELFA, ZNF141, SLBP, NOP14, FAM193A, MFSD10, MAEA, PCGF3, SPON2, TACC3, MXD4, CPLX1, SLC26A1, NSG1, STX18, FGFRL1, CYTL1, NKX1-1, PIGG, STK32B, LYAR, UVSSA, ZFYVE28, TNIP2, HAUS3, MFSD7, TMEM175, TMEM128, TMEM129, OTOP1, ZNF595, FAM53A, ZBTB49, ZNF721, ZNF718, CRIPAK, DOK7, RNF212, NAT8L, MSANTD1, POLN, C4orf48, ZNF732 Phenotype: Cleft palate, isolated Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 4 Location (GRCh38):72447-5214111 Accession: RCV000051677.1 ID: 2436312 20. Name: IRF6, 18-BP DEL/1-BP INS AND Van der Woude syndrome Gene(s): IRF6 Phenotype: Van der Woude syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000003581.1 ID: 2416379 21. Name: nsv532907 AND multiple conditions Gene(s): ANK1 Phenotype: Cleft uvula, Nonsyndromic microcephaly, Global developmental delay, Muscular hypotonia, Abnormality of the heart, Short stature, Cleft upper lip, Seizure Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):41548242-41724964 Accession: RCV000054239.1 ID: 2191151 22. Name: nsv531520 AND multiple conditions Gene(s): NCAM2 Phenotype: Cleft palate, isolated, Global developmental delay, Short stature, Overgrowth, Abnormality of the skeletal system Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 21 Location (GRCh38):21699837-26771050 Accession: RCV000052803.2 ID: 2188278 23. Name: nsv530639 AND multiple conditions Gene(s): MIPOL1 Phenotype: Cleft palate, isolated, Abnormal facial shape Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 14 Location (GRCh38):37837079-37934746 Accession: RCV000051927.1 ID: 2186526 24. Name: nsv529216 AND multiple conditions Gene(s): DUSP22 Phenotype: Cleft palate, isolated, Cleft upper lip Clinical Significance: Benign Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):259528-293493 Accession: RCV000050535.1 ID: 2183741 25. Name: nsv529913 AND multiple conditions Gene(s): ITM2A Phenotype: Global developmental delay, Cleft upper lip Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: X Location (GRCh38):78605903-79090819 Accession: RCV000051389.2 ID: 2185450 26. Name: nsv532921 AND multiple conditions Gene(s): EYA1, MSC Phenotype: Cleft uvula, Nonsyndromic microcephaly, Global developmental delay, Muscular hypotonia, Abnormality of the heart, Short stature, Cleft upper lip, Seizure Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):72190850-72875060 Accession: RCV000054254.1 ID: 2437595 27. Name: nsv532739 AND multiple conditions Gene(s): MAD2L1, PDE5A Phenotype: Cleft palate, isolated, Global developmental delay, Short stature Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 4 Location (GRCh38):120392824-121098103 Accession: RCV000054071.1 ID: 2190815 28. Name: nsv531581 AND multiple conditions Gene(s): PRODH, DGCR6 Phenotype: Cleft palate, isolated, Micrognathia, Scoliosis, Webbed neck, Abnormal facial shape, Abnormality of limb bone morphology, Flexion contracture, Vertical talus, Wide nasal bridge Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 22 Location (GRCh38):18890271-18999862 Accession: RCV000052867.2 ID: 2188406 29. Name: nsv531501 AND multiple conditions Gene(s): SNTG1, PXDNL Phenotype: Inguinal hernia, Cleft upper lip Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):50367765-52583643 Accession: RCV000052784.1 ID: 2188240 30. Name: nsv532647 AND multiple conditions Gene(s): EPT1, DRC1, GPR113 Phenotype: Epicanthus, Intellectual functioning disability, Global developmental delay, Small chin, Almond-shaped palpebral fissure, Broad forehead, Cleft upper lip, Delayed speech and language development Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 2 Location (GRCh38):26555839-26662525 Accession: RCV000053979.2 ID: 2546583 31. Name: nsv531436 AND multiple conditions Gene(s): IFRD1, ZNF277, TMEM168, C7orf60, LSMEM1 Phenotype: Laryngomalacia, Renal adysplasia, Cleft palate, isolated, Global developmental delay, Hypospadias, Abnormal facial shape Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):111856171-112585407 Accession: RCV000052719.2 ID: 2188110 32. Name: nsv530989 AND multiple conditions Gene(s): RAC1, CYTH3, USP42, FAM220A Phenotype: Intellectual functioning disability, Global developmental delay, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):6176729-6438197 Accession: RCV000052279.1 ID: 2546555 33. Name: nsv529787 AND multiple conditions Gene(s): CYFIP1, NIPA2, TUBGCP5, NIPA1 Phenotype: Global developmental delay, Short stature, Cleft upper lip, Convex nasal ridge, Narrow forehead, Seizure Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 15 Location (GRCh38):22779922-23313405 Accession: RCV000051249.1 ID: 2436126 34. Name: nsv530634 AND multiple conditions Gene(s): GPC5, MIR17, MIR18A, MIR19A, MIR19B1, MIR20A, MIR92A1, MIR17HG Phenotype: Ectodermal dysplasia, Cleft upper lip, Specific learning disability Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 13 Location (GRCh38):91626006-93749584 Accession: RCV000051922.2 ID: 2436459 35. Name: nsv529663 AND multiple conditions Gene(s): HMOX2, MGRN1, ZNF500, CDIP1, ROGDI, NUDT16L1, GLYR1, ANKS3, UBALD1, SEPT12, C16orf71, C16orf96, SMIM22 Phenotype: Cleft uvula, Robin sequence, Failure to thrive, Deeply set eye Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 16 Location (GRCh38):4540464-4865781 Accession: RCV000051115.2 ID: 2184902 36. Name: nsv532843 AND multiple conditions Gene(s): AKR1D1, TRIM24, DGKI, ATP6V0A4, LUC7L2, ZC3HAV1, KIAA1549, CREB3L2, TTC26, ZC3HAV1L, SVOPL, CLEC2L, C7orf55, TMEM213, UBN2, KLRG2, C7orf55-LUC7L2 Phenotype: Cleft uvula, Nonsyndromic microcephaly, Global developmental delay, Muscular hypotonia, Abnormality of the heart, Short stature, Cleft upper lip, Seizure Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):137426486-139373631 Accession: RCV000054174.1 ID: 2191021 37. Name: nsv530003 AND multiple conditions Gene(s): OGG1, BRPF1, CAMK1, ARPC4, TADA3, TTLL3, SETD5, CIDEC, MTMR14, CRELD1, JAGN1, IL17RC, IL17RE, CPNE9, RPUSD3, PRRT3, LHFPL4, ARPC4-TTLL3 Phenotype: Polydactyly, Cleft palate, isolated, Global developmental delay, Abnormality of the heart, Short stature, Scoliosis, Intestinal malrotation, Seizure Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):9435033-9997855 Accession: RCV000051481.1 ID: 2185634 38. Name: nsv531266 AND multiple conditions Gene(s): DYNC1I2, GAD1, HAT1, SLC25A12, TLK1, GORASP2, METTL8, CYBRD1, DCAF17, MYO3B, METAP1D, ERICH2, SP5 Phenotype: Nonsyndromic microcephaly, Global developmental delay, Seizures, Short stature, Failure to thrive, Intrauterine growth retardation, Abnormal facial shape, Cleft upper lip, Seizure Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 2 Location (GRCh38):171300729-172914965 Accession: RCV000052553.1 ID: 2436823 39. Name: nsv530734 AND multiple conditions Gene(s): AFG3L1P, C16orf3, FANCA, GAS8, MC1R, TUBB3, PRDM7, TCF25, DEF8, DBNDD1, SPIRE2, CENPBD1, ZNF276 Phenotype: Global developmental delay, Muscular hypotonia, Abnormality of the heart, Tracheomalacia, Cleft upper lip Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 16 Location (GRCh38):89796494-90148393 Accession: RCV000052022.1 ID: 2186716 40. Name: nsv531746 AND multiple conditions Gene(s): CRKL, SERPIND1, PI4KA, SLC7A4, ZNF74, LZTR1, P2RX6, SNAP29, MED15, THAP7, KLHL22, SCARF2, AIFM3, BCRP2 Phenotype: Nonsyndromic microcephaly, Global developmental delay, Abnormality of the heart, Abnormality of the diaphragm, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 22 Location (GRCh38):20733427-21505417 Accession: RCV000053055.2 ID: 2437058 41. Name: TP63:c.1846delC (p.Leu616Serfs) AND ADULT syndrome Gene(s): TP63 Variation: c.1846delC (p.Leu616Serfs) Phenotype: ADULT syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):189612094 Accession: RCV000032228.1 ID: 2478907 42. Name: ALX3:c.578_581delCTGA (p.Thr193_Glu194delinsArgfs) AND Frontonasal dysplasia Gene(s): ALX3 Variation: c.578_581delCTGA (p.Thr193_Glu194delinsArgfs) Phenotype: Frontonasal dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):110607222-110607225 Accession: RCV000004910.1 ID: 2463842 43. Name: ESCO2:c.879_880delAG (p.Arg293_Val294SerPhefs) AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Variation: c.879_880delAG (p.Arg293_Val294SerPhefs) Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):27637708-27637709 Accession: RCV000020413.1 ID: 2473403 44. Name: ESCO2:c.875_878delACAG (p.Asp292_Arg293?fs) AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Variation: c.875_878delACAG (p.Asp292_Arg293?fs) Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):27637704-27637707 Accession: RCV000020412.1 ID: 2473402 45. Name: ESCO2:c.764_765delTT (p.Phe255Cysfs) AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Variation: c.764_765delTT (p.Phe255Cysfs) Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):27634589-27634590 Accession: RCV000020411.1 ID: 2473401 46. Name: ESCO2:c.745_746delGT (p.Val249Glnfs) AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Variation: c.745_746delGT (p.Val249Glnfs) Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):27634570-27634571 Accession: RCV000020408.1 ID: 2473399 47. Name: ESCO2:c.308_309delAA (p.Lys103Argfs) AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Variation: c.308_309delAA (p.Lys103Argfs) Frequency: GO-ESP: 0.000079884966 Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):27634133-27634134 Accession: RCV000020406.1 ID: 2473397 48. Name: ESCO2:c.307_311delAAAGA (p.Lys103_Glu104?fs) AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Variation: c.307_311delAAAGA (p.Lys103_Glu104?fs) Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):27634132-27634136 Accession: RCV000020405.1 ID: 2473396 49. Name: ESCO2:c.294_297delGAGA (p.Glu98_Arg99?fs) AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Variation: c.294_297delGAGA (p.Glu98_Arg99?fs) Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):27634119-27634122 Accession: RCV000020404.1 ID: 2473395 50. Name: ESCO2:c.252_253delAT (p.Val84_Ser85ValPhefs) AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Variation: c.252_253delAT (p.Val84_Ser85ValPhefs) Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):27634077-27634078 Accession: RCV000020403.1 ID: 2473394 51. Name: ESCO2:c.1461_1462delAG (p.Arg487_Val488SerSerfs) AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Variation: c.1461_1462delAG (p.Arg487_Val488SerSerfs) Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):27650292-27650293 Accession: RCV000020399.1 ID: 2473390 52. Name: NM_001017420.2:c.955+2_955+5delTAAG AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Frequency: GO-ESP: 0.000079987202, GO-ESP: 0.000159974404 Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):27637786-27637789 Accession: RCV000020414.1 ID: 2422418 53. Name: IRF6, 17-BP DEL AND Van der Woude syndrome Gene(s): IRF6 Phenotype: Van der Woude syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000003589.1 ID: 2416387 54. Name: ESCO2:c.760delA (p.Thr254Leufs) AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Variation: c.760delA (p.Thr254Leufs) Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 8 Location (GRCh38):27634585 Accession: RCV000020409.1 ID: 2473400 55. Name: nsv529489 AND multiple conditions Gene(s): OR5I1, OR5L2, OR8J3, OR4P4, OR4C15, TRIM51, OR8I2, OR8U1, OR4C16, OR4C11, OR4S2, OR4C6, OR5D14, OR5L1, OR5D18, OR5AS1, OR8K5, OR5T2, OR8H1, OR8K3, OR8J1, OR5R1, OR5M3, OR5M8, OR5M11, OR5AR1, OR10AG1, OR5J2, OR9G4, OR5F1, OR5AP2, OR5D13, OR5D16, OR5W2, OR8H2, OR8H3, OR5T3, OR5T1, OR8K1, OR5M9, OR5M10, OR5M1, OR9G1, OR5AK2 Phenotype: Cleft palate, isolated, Cleft upper lip Clinical Significance: Benign Review Status: classified by single submitter Chromosome: 11 Location (GRCh38):55213165-56882257 Accession: RCV000050913.1 ID: 2184497 56. Name: nsv529066 AND multiple conditions Gene(s): ARVCF, COMT, CRKL, GP1BB, GSC2, SERPIND1, PI4KA, SEPT5, PRODH, RANBP1, SLC7A4, SLC25A1, TBX1, CLDN5, HIRA, UFD1L, ZNF74, DVL1P1, LZTR1, CLTCL1, DGCR14, CDC45, P2RX6, SNAP29, DGCR2, TXNRD2, TSSK2, TRMT2A, ZDHHC8, MED15, DGCR8, GNB1L, MRPL40, RTN4R, C22orf29, THAP7, KLHL22, DGCR6L, RIMBP3, SCARF2, C22orf39, TANGO2, AIFM3, USP41, BCRP2, FAM230A, GGTLC3, TMEM191B Phenotype: Cleft palate, isolated, Hypospadias, Ventricular septal defect, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 22 Location (GRCh38):18919942-21505417 Accession: RCV000050390.1 ID: 2435737 57. Name: nsv532931 AND multiple conditions Gene(s): ALDOA, KIF22, MAZ, PPP4C, MAPK3, SPN, TBX6, DOC2A, HIRIP3, TAOK2, MVP, CDIPT, CORO1A, QPRT, SEZ6L2, GDPD3, PAGR1, YPEL3, FAM57B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, ZG16 Phenotype: Epicanthus, Intellectual functioning disability, Global developmental delay, Small chin, Almond-shaped palpebral fissure, Broad forehead, Cleft upper lip, Delayed speech and language development Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 16 Location (GRCh38):29656684-30194753 Accession: RCV000054268.2 ID: 2546590 58. Name: nsv531717 AND multiple conditions Gene(s): ARVCF, COMT, GP1BB, GSC2, SEPT5, RANBP1, SLC25A1, TBX1, CLDN5, HIRA, UFD1L, DVL1P1, CLTCL1, DGCR14, CDC45, DGCR2, TXNRD2, TSSK2, TRMT2A, ZDHHC8, DGCR8, GNB1L, MRPL40, RTN4R, C22orf29, C22orf39, TANGO2 Phenotype: Attention deficit-hyperactivity disorder, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 22 Location (GRCh38):18938161-20229017 Accession: RCV000053010.1 ID: 2437016 59. Name: nsv529813 AND multiple conditions Gene(s): ARVCF, COMT, CRKL, GP1BB, GSC2, SERPIND1, PI4KA, SEPT5, PRODH, RANBP1, SLC7A4, SLC25A1, TBX1, CLDN5, HIRA, UFD1L, ZNF74, DGCR6, DVL1P1, LZTR1, CLTCL1, DGCR14, CDC45, P2RX6, SNAP29, DGCR2, TXNRD2, TSSK2, TRMT2A, ZDHHC8, MED15, DGCR8, GNB1L, MRPL40, RTN4R, C22orf29, THAP7, KLHL22, DGCR6L, RIMBP3, SCARF2, C22orf39, TANGO2, AIFM3, USP41, FAM230A, GGTLC3, TMEM191B Phenotype: Cleft palate, isolated, Global developmental delay, Abnormality of the heart, Short stature, Failure to thrive, Tracheomalacia, Intrauterine growth retardation, Abnormal facial shape, Spastic diplegia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 22 Location (GRCh38):18660553-21455556 Accession: RCV000051281.1 ID: 2436145 60. Name: nsv532017 AND multiple conditions Gene(s): AGRP, CA7, CBFB, CDH16, DYNC1LI2, E2F4, HSD11B2, HSF4, RRAD, SLC9A5, TRADD, CES2, NAE1, NOL3, ATP6V0D1, NUTF2, CTCF, CES3, PLEKHG4, LRRC29, TMEM208, FHOD1, ZDHHC1, PARD6A, FAM96B, TPPP3, LRRC36, FBXL8, TSNAXIP1, THAP11, PDP2, RANBP10, ACD, FAM65A, ELMO3, CENPT, C16orf70, GFOD2, ENKD1, B3GNT9, RLTPR, KCTD19, CMTM4, CCDC79, CES4A, EXOC3L1, C16orf86, MIR328, KIAA0895L Phenotype: Cleft palate, isolated, Nonsyndromic microcephaly, Global developmental delay, Short stature, Intrauterine growth retardation, Abnormal facial shape, Abnormality of limb bone morphology Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 16 Location (GRCh38):66728083-67899348 Accession: RCV000053336.1 ID: 2437227 61. Name: nsv531419 AND multiple conditions Gene(s): AGXT, KIF1A, BOK, DTYMK, GPC1, GPR35, HDLBP, SEPT2, PDCD1, PPP1R7, FARP2, STK25, CAPN10, PASK, ATG4B, SNED1, ANO7, THAP4, ANKMY1, RNPEPL1, GAL3ST2, C2orf54, ING5, NEU4, MTERFD2, RTP5, DUSP28, AQP12A, MIR149, AQP12B, D2HGDH Phenotype: Muscular hypotonia, Failure to thrive, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 2 Location (GRCh38):241384236-243028452 Accession: RCV000052703.1 ID: 2436881 62. Name: nsv532924 AND multiple conditions Gene(s): CA1, CA2, CA3, E2F5, FABP4, FABP5, HNF4G, IL7, IMPA1, PMP2, PKIA, PEX2, TCEB1, TPD52, STMN2, HEY1, LY96, MRPS28, PI15, ZC2HC1A, GDAP1, TMEM70, PAG1, JPH1, SNX16, ZBTB10, ZFAND1, ZFHX4, CRISPLD1, LRRCC1, CHMP4C, RALYL, SLC10A5, CA13, C8orf59, ZNF704, FABP9, FABP12 Phenotype: Global developmental delay, Muscular hypotonia, Short stature, Abnormality of the skeletal system, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):74791620-86523695 Accession: RCV000054259.1 ID: 2437600 63. Name: nsv531739 AND multiple conditions Gene(s): ARVCF, COMT, CRKL, GP1BB, GSC2, SERPIND1, PI4KA, SEPT5, RANBP1, SLC7A4, SLC25A1, TBX1, CLDN5, HIRA, UFD1L, ZNF74, DVL1P1, LZTR1, CLTCL1, DGCR14, CDC45, P2RX6, SNAP29, DGCR2, TXNRD2, TSSK2, TRMT2A, ZDHHC8, MED15, DGCR8, GNB1L, MRPL40, RTN4R, C22orf29, THAP7, KLHL22, DGCR6L, RIMBP3, SCARF2, C22orf39, TANGO2, AIFM3, USP41, BCRP2, FAM230A, GGTLC3, TMEM191B Phenotype: Global developmental delay, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 22 Location (GRCh38):19035017-21461811 Accession: RCV000053047.1 ID: 2437051 64. Name: nsv529812 AND multiple conditions Gene(s): ARVCF, COMT, CRKL, GP1BB, GSC2, SERPIND1, PI4KA, SEPT5, PRODH, RANBP1, SLC7A4, SLC25A1, TBX1, CLDN5, HIRA, UFD1L, ZNF74, DGCR6, DVL1P1, LZTR1, CLTCL1, DGCR14, CDC45, P2RX6, SNAP29, DGCR2, TXNRD2, USP18, TSSK2, TRMT2A, ZDHHC8, MED15, DGCR8, GNB1L, MRPL40, RTN4R, C22orf29, THAP7, KLHL22, DGCR6L, RIMBP3, SCARF2, C22orf39, TANGO2, AIFM3, USP41, FAM230A, GGTLC3, TMEM191B Phenotype: Intellectual functioning disability, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 22 Location (GRCh38):18650675-21455556 Accession: RCV000051275.1 ID: 2546542 65. Name: nsv532199 AND multiple conditions Gene(s): GRAMD3, MEGF10, LYRM7, PRDM6, FTMT, FNIP1, MARCH3, PRRC1, ZNF474, CEP120, SRFBP1, ADAMTS19, DTWD2, CHSY3, FAM170A, TEX43, C5orf63, CTXN3, KIAA1024L, ALDH7A1, CSF2, CSNK1G3, DMXL1, FBN2, HINT1, HSD17B4, IL3, IL4, IL5, IL13, IRF1, LMNB1, LOX, PPIC, SLC12A2, SLC22A4, SLC22A5, SNX2, PDLIM4, P4HA2, SNCAIP, RAD50, ACSL6, TNFAIP8, SLC27A6, SNX24, ISOC1, PRR16, RAPGEF6, PHAX, CDC42SE2, ZNF608 Phenotype: Talipes equinovarus, Global developmental delay, Short stature, Failure to thrive, Micrognathia, Abnormal facial shape, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 5 Location (GRCh38):116012818-132021855 Accession: RCV000053525.1 ID: 2437304 66. Name: nsv530708 AND multiple conditions Gene(s): CDK11B, DFFB, DVL1, MEGF6, GABRD, GNB1, PEX10, PRKCZ, SCNN1D, SKI, TP73, TNFRSF4, MMP23B, MMP23A, TNFRSF14, TNFRSF18, ISG15, PLCH2, CEP104, SLC35E2, RER1, NOC2L, ARHGEF16, SSU72, WRAP73, SDF4, MXRA8, CPSF3L, C1orf159, AURKAIP1, MRPL20, ATAD3A, PANK4, LRRC47, HES4, PRDM16, VWA1, NADK, MMEL1, MORN1, GLTPD1, CCNL2, TAS1R3, ATAD3B, PLEKHN1, , ACAP3, UBE2J2, PUSL1, B3GALT6, TPRG1L, FAM213B, ACTRT2, MIB2, SAMD11, CCDC27, CALML6, C1orf86, ATAD3C, TTLL10, C1orf174, KLHL17, TMEM240, TMEM52, AGRN, FAM132A, HES5, SMIM1, RNF223, MIR200A, MIR200B, ANKRD65, MIR429, TMEM88B, C1orf233, MIR551A, CDK11A, SLC35E2B, TTC34 Phenotype: Global developmental delay, Abnormality of the heart, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):757093-4215734 Accession: RCV000051996.1 ID: 2436493 67. Name: OFD1:c.1071_1078delGAAGGATGinsTTTTTCCT (p.Leu357_Asp360delinsLeuPheSerTyr) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1071_1078delGAAGGATGinsTTTTTCCT (p.Leu357_Asp360delinsLeuPheSerTyr) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13771502-13771509 Accession: RCV000033954.2 ID: 2479860 68. Name: GLI3:c.2058_2059delGGinsAT (p.Arg686_Glu687delinsArgTer) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.2058_2059delGGinsAT (p.Arg686_Glu687delinsArgTer) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):42011980-42011981 Accession: RCV000031862.1 ID: 2478631 69. Name: GNAS:c.775_776delCGinsGC (p.Arg259Ala) AND Pseudopseudohypoparathyroidism Gene(s): GNAS Variation: c.775_776delCGinsGC (p.Arg259Ala) Phenotype: Pseudopseudohypoparathyroidism Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 20 Location (GRCh38):57484792-57484793 Accession: RCV000017307.22 ID: 2471302 70. Name: TFAP2A, 18-BP DEL/6-BP INS, NT828 AND Branchiooculofacial syndrome Gene(s): TFAP2A Phenotype: Branchiooculofacial syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000019534.23 ID: 2273650 71. Name: RPL5, 5-BP DEL/39-BP INS, NT498 AND Aase syndrome Gene(s): RPL5 Phenotype: Aase syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000006560.1 ID: 2368247 72. Name: DNMT1:c.1518_1520delTCCinsATA (p.Asp506_Pro507delinsGluTyr) AND NEUROPATHY, HEREDITARY SENSORY, TYPE IE Gene(s): DNMT1 Variation: c.1518_1520delTCCinsATA (p.Asp506_Pro507delinsGluTyr) Phenotype: NEUROPATHY, HEREDITARY SENSORY, TYPE IE Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 19 Location (GRCh38):10265705-10265707 Accession: RCV000022530.26 ID: 2475123 73. Name: nsv530707 AND multiple conditions Gene(s): CDK11B, DFFB, DVL1, MEGF6, GABRD, GNB1, ZBTB48, PEX10, PRKCZ, RPL22, SCNN1D, SKI, TP73, TNFRSF4, MMP23B, MMP23A, KCNAB2, TNFRSF25, TNFRSF14, TNFRSF18, ISG15, PLCH2, CEP104, KLHL21, SLC35E2, RER1, ACOT7, CAMTA1, ICMT, CHD5, NOC2L, ARHGEF16, SSU72, WRAP73, SDF4, MXRA8, HES2, CPSF3L, C1orf159, AURKAIP1, MRPL20, ATAD3A, PANK4, DNAJC11, AJAP1, PLEKHG5, LRRC47, HES4, PRDM16, VWA1, NADK, MMEL1, NOL9, MORN1, GLTPD1, TAS1R1, OR4F16, CCNL2, ESPN, TAS1R3, ATAD3B, PLEKHN1, , THAP3, ACAP3, UBE2J2, PUSL1, B3GALT6, TPRG1L, FAM213B, ACTRT2, MIB2, SAMD11, PHF13, CCDC27, CALML6, C1orf86, ATAD3C, TTLL10, NPHP4, C1orf174, KLHL17, TMEM240, TMEM52, AGRN, GPR153, FAM132A, HES5, SMIM1, RNF207, HES3, RNF223, MIR200A, MIR200B, ANKRD65, MIR429, TMEM88B, C1orf233, MIR551A, CDK11A, SLC35E2B, TTC34 Phenotype: Nonsyndromic microcephaly, Global developmental delay, Abnormality of the heart, Short stature, Failure to thrive, Intrauterine growth retardation, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):564424-7068738 Accession: RCV000051995.1 ID: 2436492 74. Name: nsv531697 AND multiple conditions Gene(s): ABCB7, AGTR2, NR0B1, ALAS2, ABCD1, AMELX, SLC25A5, XIAP, SHROOM2, AR, ARAF, ARHGAP4, ARHGAP6, ARR3, STS, ARSD, ARSE, ARSF, ATP2B3, ATP6AP1, ATP7A, ATRX, AVPR2, BGN, BMX, BRS3, BTK, CACNA1F, S100G, CAPN6, CD40LG, CDR1, CDX4, CETN2, CHM, CLCN4, CLCN5, CLIC2, CNGA2, COL4A5, COL4A6, COX7B, CSTF2, CTAG1B, TEX28, CYBB, CYLC1, DCX, DDX3X, TIMM8A, DIAPH2, DKC1, DLG3, DMD, DNASE1L1, DRP2, TSC22D3, DUSP9, EDA, EFNB1, EIF1AX, EIF2S3, ELF4, ELK1, EMD, F8, F9, ACSL4, FANCB, GPC4, FGD1, FGF13, FHL1, FIGF, FLNA, FMR1, AFF2, CENPI, G6PD, GAGE1, GABRA3, GABRE, GAGE2C, GATA1, OPN1MW, GDI1, GJB1, GK, GLA, GPC3, GLRA2, GLUD2, GPM6B, CXCR3, LPAR4, GPR34, GRIA3, GRPR, GUCY2F, HSD17B10, HCCS, HCFC1, HMGB3, HNRNPH2, HPRT1, ERAS, HTR2C, IDH3G, IDS, IGBP1, IGSF1, IL2RG, IL13RA1, IL13RA2, IRAK1, KAL1, KCND1, L1CAM, LAMP2, PRICKLE3, SH2D1A, MAGEA1, MAGEA2, MAGEA3, MAGEA4, MAGEA5, MAGEA6, MAGEA8, MAGEA9, MAGEA10, MAGEA11, MAGEA12, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MAOA, MAOB, MCF2, MECP2, MID1, FOXO4, MPP1, CITED1, MSN, MTCP1, MTM1, MYCLP1, NAP1L2, NAP1L3, NDP, NDUFA1, NHS, NONO, GPR143, TBC1D25, OCRL, OPHN1, OTC, P2RY4, PAK3, CDK16, PDHA1, PDK3, CFP, PFKFB1, PGK1, PHEX, PHKA1, PHKA2, PIGA, PIN4, PLP1, PLP2, PLS3, PLXNB3, POLA1, POU3F4, PPEF1, PRKX, PRPS1, PRPS2, PRRG1, PSMD10, RBBP7, RBM3, OPN1LW, RENBP, RP2, RPGR, RPL10, RPL39, RPL36A, RPS4X, RPS6KA3, RS1, SAT1, SCML1, TRAPPC2, SH3BGRL, SLC6A8, SLC16A2, SMARCA1, SMS, SOX3, SSR4, SSX1, SSX2, SSX5, SSX4, CDKL5, SUV39H1, SYN1, SYP, TAF1, TAZ, SERPINA7, TBL1X, DYNLT3, TFE3, TIMP1, TSPAN7, TSPAN6, TMSB4X, TRO, TRPC5, UBA1, UBE2A, SLC35A2, KDM6A, VBP1, WAS, XG, XIST, XK, XPNPEP2, ZFX, ZIC3, ZNF711, ZNF182, ZNF41, ZNF75D, ZNF157, RNF113A, ZNF185, ZXDA, HDHD1, PNPLA4, ZRSR2, USP11, USP9X, RBM10, KDM5C, SMC1A, NAA10, F8A1, UBL4A, TMEM187, LAGE3, SLC10A3, TKTL1, SRPX, UXT, CUL4B, IRS4, OGT, OFD1, IKBKG, PIR, INE2, INE1, CASK, PAGE1, MTMR1, FGF16, AKAP4, APLN, AP1S2, GYG2, FAM127A, SLC25A14, CLDN2, RGN, FAM50A, AIFM1, TMEM257, REPS2, ZMYM3, BMP15, GPR50, MED14, TCEAL1, RAB33A, RAB9A, TSIX, ITM2A, ARHGEF6, PCYT1B, MAGED1, XAGE2, PAGE4, MORF4L2, GPRASP1, STARD8, FRMPD4, JADE3, ARMCX2, HEPH, MAGEC1, AMMECR1, MED12, ZBTB33, HDAC6, MAMLD1, HUWE1, PQBP1, BCAP31, GPR64, ATP6AP2, TENM1, SSX3, TIMM17B, RRAGB, SCML2, SLC9A6, ENOX2, PRDX4, EBP, STAG2, RAI2, PLAC1, CYSLTR1, UTP14A, ZNF275, PGRMC1, MAGED2, MSL3, TMSB15A, PIM2, MID2, IL1RAPL1, WDR45, TREX2, PRAF2, CA5B, SLC6A14, KLF8, VSIG4, CNKSR2, IQSEC2, PHF8, SEPT6, ARHGEF9, ATP1B4, ACOT9, KCNE1L, LDOC1, SMPX, GSPT2, KIF4A, FTSJ1, HYPM, MXRA5, EGFL6, FAM127B, IL1RAPL2, ITGB1BP2, SRPK3, VCX, GAGE12I, GAGE2E, NGFRAP1, NOX1, FAM155B, INGX, GPR82, GPKOW, SRPX2, APEX2, RBMX, PCDH11X, RPS6KA6, P2RY10, HTATSF1, PCSK1N, CCDC22, MCTS1, MAGEH1, FAM156A, C1GALT1C1, SNX12, RPA4, PNMA3, UBQLN2, SH3KBP1, SPANXA1, CTAG2, NSDHL, FOXP3, TBX22, ZDHHC9, RLIM, WBP5, RAB9B, LUZP4, PDZD11, PBDC1, TFDP3, TLR7, ARMCX1, TLR8, MBTPS2, MAGEC2, VGLL1, VCX2, VCX3A, ARMCX3, TAF9B, RBMX2, MST4, CPXCR1, CHIC1, FTHL17, GPR173, NLGN3, SASH3, TAF7L, SPIN2A, ARMCX6, WDR44, NDUFB11, GNL3L, ERCC6L, NUP62CL, GDPD2, BCOR, TBC1D8B, FAM120C, GEMIN8, CT55, TMEM255A, CXorf57, NUDT11, TMLHE, RBM41, SAGE1, PLXNA3, HAUS7, OTUD5, ZNF280C, MTMR8, KRBOX4, TXLNG, MBNL3, WWC3, BEX1, HDAC8, GABRQ, ZC4H2, NXT2, NKRF, NXF5, NXF4, NXF3, NXF2, KLHL4, TEX13B, TEX13A, TEX11, MOSPD1, BEX4, CTPS2, CHST7, TCEAL7, GRIPAP1, THOC2, ZNF630, TMEM27, SHROOM4, , NLGN4X, PCDH19, RGAG1, PDZD4, LRCH2, MAGEE1, RAP2C, MID1IP1, ACE2, TMEM35, FAM3A, EDA2R, NYX, BCORL1, DUSP21, CXorf56, DMRTC1, TSPYL2, TNMD, PJA1, SPANXD, SPANXC, WDR13, PORCN, ARMCX5, UPF3B, WNK3, FUNDC2, PRRG3, APOO, BRCC3, HMGN5, NKAP, RNF128, MAP7D3, MORC4, CXorf36, LONRF3, ALG13, MAGIX, TCEAL4, TRMT2B, POF1B, CXorf21, EFHC2, KLHL15, ESX1, BHLHB9, MAGED4B, LAS1L, GPR101, TMEM47, CD99L2, H2AFB3, USP26, MAGT1, TMEM164, PHF6, FRMPD3, ZMAT1, RHOXF2, TMEM185A, SLITRK2, GPR174, SLC9A7, BEX2, SLC7A3, PNMA6A, TCEAL3, CCNB3, PPP1R3F, FATE1, CCDC120, TSR2, HS6ST2, FRMD7, KLHL13, TGIF2LX, FAM104B, PAGE5, TCEAL8, CHRDL1, CXorf40A, FAM58A, RIPPLY1, ATXN3L, SLC38A5, MMGT1, ACRC, SYAP1, SYTL4, SYTL5, PNMA5, GPRASP2, ATG4A, RAB39B, DACH2, SLITRK4, SPANXN3, MAGEC3, BEND2, PASD1, DCAF12L1, DGKK, PIH1D3, MUM1L1, FAM199X, AMER1, APOOL, HDX, FUNDC1, GPR112, PTCHD1, MAGEB10, DCAF8L1, OTUD6A, UPRT, MAGEE2, MAGEB16, FOXR2, GAB3, PNCK, ZFP92, ACTRT1, GPR119, PAGE3, RBMXL3, DOCK11, SPIN4, ASB11, ASB9, TCEAL2, PABPC5, RAB40A, ASB12, AMOT, ZNF645, CSAG1, FMR1NB, FAAH2, ZXDB, FAM47A, MOSPD2, ARHGAP36, RIBC1, AKAP14, RHOXF1, MAGEB6, CXorf65, AWAT1, AWAT2, ZDHHC15, USP51, TCEAL6, H2BFWT, CXorf38, FAM122B, FAM122C, DDX53, FAM46D, SPIN3, FAM47B, CXorf22, SUPT20HL2, TCEANC, ZCCHC12, ARX, XAGE3, XAGE5, NUDT10, FAM9A, FAM9B, FAM9C, CT83, SLC25A43, ZCCHC5, NRK, DDX26B, ZNF449, VMA21, TMEM31, PAGE2, CTAG1A, BRWD3, CXorf58, CT47A11, CXorf23, MAP7D2, KLHL34, TAB3, MAGEA2B, SSX6, SSX7, SSX8, SSX9, RAB40AL, ATP11C, H2BFM, YIPF6, CHDC2, FAM133A, MAGEB18, TMSB15B, RGAG4, NHSL2, PABPC1L2A, KIAA2022, BEX5, TCEAL5, VSIG1, ZC3H12B, SATL1, DCAF12L2, ZCCHC16, LHFPL1, ZNF81, ITIH6, LANCL3, MPC1L, DCAF8L2, SOWAHD, OR13H1, CCDC160, CXorf66, DGAT2L6, RAB41, ARSH, MAGEB5, MAP3K15, SPACA5, USP27X, PAGE2B, ZCCHC13, UBE2NL, CSAG3, GLOD5, ARL13A, SLC25A53, XKRX, YY2, MIRLET7F2, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR221, MIR222, MIR223, MIR224, MIR98, VCX3B, FTH1P18, GLRA4, FAM127C, CT45A3, CT45A4, CT45A5, SPANXN4, PGAM4, FAM47C, SPIN2B, H2AFB2, H2AFB1, F8A2, F8A3, SPANXN1, SPANXN2, SPANXN5, MIR424, CT45A6, CT45A1, CXorf40B, SSX4B, JPX, MIR448, MIR502, MIR503, MIR506, MIR508, MIR509-1, MIR510, ZNF674, CT47B1, ZCCHC18, SMIM10, GAGE2B, GAGE13, GAGE12G, CXorf30, MAGEB17, PABPC1L2B, XAGE1E, XAGE1B, CT47A7, SNORA11, SSX2B, FAM156B, RHOXF2B, CT47A10, CT47A9, CT47A8, CT47A6, CT47A5, CT47A4, CT47A3, CT47A2, CT47A1, MAGED4, MAGEA9B, NXF2B, OPN1MW2, DMRTC1B, SPANXB1, SPANXA2, CT45A2, SPACA5B, GAGE12J, GAGE2D, GAGE12C, GAGE12B, GAGE12E, GAGE12H, GAGE2A, GAGE12F, GAGE8, FMR1-AS1, MIR509-3, CXorf51A, HSFX2, SUPT20HL1, CXorf49, PRR32, ARMCX4, GAGE12D, SMIM9, CXorf49B, CXorf51B, CMC4, FTX, TRPC5OS, MTRNR2L10, HSFX1, CT47A12, ARMCX5-GPRASP2, RPL36A-HNRNPH2, TCP11X2 Phenotype: Global developmental delay, Short stature, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):76102-155226096 Accession: RCV000052986.1 ID: 2436996 75. Name: TP63, 1-BP DEL, 1783C AND Rapp-Hodgkin ectodermal dysplasia syndrome Gene(s): TP63 Phenotype: Rapp-Hodgkin ectodermal dysplasia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000006927.1 ID: 2417264 76. Name: TP63, 1-BP DEL, 1859A AND Rapp-Hodgkin ectodermal dysplasia syndrome Gene(s): TP63 Phenotype: Rapp-Hodgkin ectodermal dysplasia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000006917.1 ID: 2417254 77. Name: TP63, 1-BP DEL, 1709A AND Rapp-Hodgkin ectodermal dysplasia syndrome Gene(s): TP63 Phenotype: Rapp-Hodgkin ectodermal dysplasia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000006916.1 ID: 2417253 78. Name: TCTN3, 1-BP DEL, NT1348 AND Orofacial-digital syndrome IV Gene(s): TCTN3 Phenotype: Orofacial-digital syndrome IV Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000030714.1 ID: 2381615 79. Name: NC_000007.14:g.(69899499_70118132)_(70134571_70435751)del AND MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 Gene(s): AUTS2 Phenotype: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000119843.1 ID: 2543809 80. Name: KDM6A:c.1909_1912delTCTA (p.Ser637Thrfs) AND Kabuki syndrome 2 Gene(s): KDM6A Variation: c.1909_1912delTCTA (p.Ser637Thrfs) Phenotype: Kabuki syndrome 2 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):44923048-44923051 Accession: RCV000076920.1 ID: 2515100 81. Name: SOX9, 960-KB DEL, UPSTREAM REGULATORY REGION AND Acampomelic campomelic dysplasia with autosomal sex reversal Gene(s): SOX9 Phenotype: Acampomelic campomelic dysplasia with autosomal sex reversal Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000032999.1 ID: 2426217 82. Name: COL2A1, 390-BP DEL AND Spondyloepiphyseal dysplasia congenita Gene(s): COL2A1 Phenotype: Spondyloepiphyseal dysplasia congenita Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000018894.26 ID: 2421981 83. Name: COL11A1, 4-BP DEL, EX50/IVS50 AND Marshall syndrome Gene(s): COL11A1 Phenotype: Marshall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000018672.22 ID: 2421848 84. Name: L1CAM, 2-BP DEL, EX18 AND HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE Gene(s): L1CAM Phenotype: HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000010678.1 ID: 2418598 85. Name: SEMA3A, 13-BP DEL, NT1613 AND Hypogonadotropic hypogonadism 16 with or without anosmia Gene(s): SEMA3A Phenotype: Hypogonadotropic hypogonadism 16 with or without anosmia Clinical Significance: risk factor Review Status: classified by single submitter Accession: RCV000032922.1 ID: 2382720 86. Name: NELF, 8-BP DEL, IVS9, -14 AND Hypogonadotropic hypogonadism 9 with or without anosmia Gene(s): NSMF Phenotype: Hypogonadotropic hypogonadism 9 with or without anosmia Clinical Significance: risk factor Review Status: classified by single submitter Accession: RCV000030873.1 ID: 2381763 87. Name: RECQL4, IVS7, 1-BP DEL, +2 AND Rapadilino syndrome Gene(s): RECQL4 Phenotype: Rapadilino syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000006442.1 ID: 2368131 88. Name: CHRNG, 2-BP DEL, 753CT AND Lethal multiple pterygium syndrome Gene(s): CHRNG Phenotype: Lethal multiple pterygium syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000020010.25 ID: 2274122 89. Name: COL11A2, 1-BP DEL, 3962G AND Otospondylomegaepiphyseal dysplasia Gene(s): COL11A2 Phenotype: Otospondylomegaepiphyseal dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000018668.26 ID: 2272798 90. Name: OFD1:c.919delG (p.Val307Leufs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.919delG (p.Val307Leufs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13767636 Accession: RCV000034054.2 ID: 2479942 91. Name: OFD1:c.877_878delAT (p.Met293Glyfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.877_878delAT (p.Met293Glyfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13767594-13767595 Accession: RCV000034052.2 ID: 2479940 92. Name: OFD1:c.858delG (p.Arg286Serfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.858delG (p.Arg286Serfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13767575 Accession: RCV000034050.2 ID: 2479938 93. Name: OFD1:c.843_844delAA (p.Glu281_Ile282delinsAspLeufs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.843_844delAA (p.Glu281_Ile282delinsAspLeufs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13767560-13767561 Accession: RCV000034049.2 ID: 2479937 94. Name: OFD1:c.839_840delAA (p.Lys280Argfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.839_840delAA (p.Lys280Argfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13767556-13767557 Accession: RCV000034048.2 ID: 2479936 95. Name: OFD1:c.837_841delAAAAG (p.Thr279_Glu281delinsThrAsnfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.837_841delAAAAG (p.Thr279_Glu281delinsThrAsnfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13767554-13767558 Accession: RCV000034047.2 ID: 2479935 96. Name: OFD1:c.837_838delAA (p.Thr279_Lys280delinsThrArgfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.837_838delAA (p.Thr279_Lys280delinsThrArgfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13767554-13767555 Accession: RCV000034046.2 ID: 2479934 97. Name: OFD1:c.712delT (p.Tyr238Metfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.712delT (p.Tyr238Metfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13764956 Accession: RCV000034043.2 ID: 2479931 98. Name: OFD1:c.710delA (p.Lys237Serfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.710delA (p.Lys237Serfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13764954 Accession: RCV000034041.2 ID: 2479929 99. Name: OFD1:c.709_710delAA (p.Lys237Valfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.709_710delAA (p.Lys237Valfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13764953-13764954 Accession: RCV000034040.2 ID: 2479928 100. Name: OFD1:c.707_719delAAAAGTATGAAAA (p.Lys236_Lys240delinsArgfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.707_719delAAAAGTATGAAAA (p.Lys236_Lys240delinsArgfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13764951-13764963 Accession: RCV000034039.2 ID: 2479927 101. Name: OFD1:c.675delC (p.Thr225Thr=fs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.675delC (p.Thr225Thr=fs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13764919 Accession: RCV000034037.2 ID: 2479926 102. Name: OFD1:c.653delA (p.Lys218Serfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.653delA (p.Lys218Serfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13764573 Accession: RCV000034033.2 ID: 2479923 103. Name: OFD1:c.616_617delGA (p.Glu206Asnfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.616_617delGA (p.Glu206Asnfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13764536-13764537 Accession: RCV000034030.2 ID: 2479921 104. Name: OFD1:c.615_620delAGAAAT (p.Arg205_Ile207delinsArg) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.615_620delAGAAAT (p.Arg205_Ile207delinsArg) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13764535-13764540 Accession: RCV000034029.2 ID: 2479920 105. Name: OFD1:c.602delA (p.Asn201Metfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.602delA (p.Asn201Metfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13764522 Accession: RCV000034028.2 ID: 2479919 106. Name: OFD1:c.594_598delAAAGC (p.Ile198_Leu200delinsIleLysfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.594_598delAAAGC (p.Ile198_Leu200delinsIleLysfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13764514-13764518 Accession: RCV000034027.2 ID: 2479918 107. Name: OFD1:c.43_44delAG (p.Ser15Ser=fs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.43_44delAG (p.Ser15Ser=fs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13753397-13753398 Accession: RCV000034023.2 ID: 2479916 108. Name: OFD1:c.411delA (p.Lys137Lys=fs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.411delA (p.Lys137Lys=fs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13757150 Accession: RCV000034017.2 ID: 2479912 109. Name: OFD1:c.400_403delGAAA (p.Glu134_Asn135delinsIlefs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.400_403delGAAA (p.Glu134_Asn135delinsIlefs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13757139-13757142 Accession: RCV000034016.2 ID: 2479911 110. Name: OFD1:c.294_312del19 (p.Ser98_Lys104delinsArgfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.294_312del19 (p.Ser98_Lys104delinsArgfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13754779-13754797 Accession: RCV000034007.2 ID: 2479905 111. Name: OFD1:c.2841_2847delAAAAGAC (p.Ile947_Asp949delinsIlefs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.2841_2847delAAAAGAC (p.Ile947_Asp949delinsIlefs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13786256-13786262 Accession: RCV000034005.2 ID: 2479903 112. Name: OFD1:c.2767delG (p.Glu923Lysfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.2767delG (p.Glu923Lysfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13786182 Accession: RCV000034004.2 ID: 2479902 113. Name: OFD1:c.2349delC (p.Ser783Ser=fs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.2349delC (p.Ser783Ser=fs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13779292 Accession: RCV000033997.2 ID: 2479895 114. Name: OFD1:c.2176delC (p.Arg726Alafs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.2176delC (p.Arg726Alafs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13778755 Accession: RCV000033992.2 ID: 2479891 115. Name: OFD1:c.2056delT (p.Ser686Profs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.2056delT (p.Ser686Profs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13778635 Accession: RCV000033990.2 ID: 2479889 116. Name: OFD1:c.1979_1980delCT (p.Ser660Cysfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1979_1980delCT (p.Ser660Cysfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13778558-13778559 Accession: RCV000033988.2 ID: 2479887 117. Name: OFD1:c.1821delG (p.Arg607Arg=fs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1821delG (p.Arg607Arg=fs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13778400 Accession: RCV000033985.2 ID: 2479885 118. Name: OFD1:c.1757delG (p.Ser586Metfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1757delG (p.Ser586Metfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13778336 Accession: RCV000033984.2 ID: 2479884 119. Name: OFD1:c.162_166delTGGAG (p.Ser54_Glu56delinsArgThrfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.162_166delTGGAG (p.Ser54_Glu56delinsArgThrfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13754647-13754651 Accession: RCV000033983.2 ID: 2479883 120. Name: OFD1:c.1587delA (p.Lys529Lys=fs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1587delA (p.Lys529Lys=fs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13776500 Accession: RCV000033982.2 ID: 2479882 121. Name: OFD1:c.1452_1458delAGAACTA (p.Lys484_Leu486delinsAsnfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1452_1458delAGAACTA (p.Lys484_Leu486delinsAsnfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13775819-13775825 Accession: RCV000033981.2 ID: 2479881 122. Name: OFD1:c.1445_1446delTT (p.Phe482Serfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1445_1446delTT (p.Phe482Serfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13775812-13775813 Accession: RCV000033980.2 ID: 2479880 123. Name: OFD1:c.1409delA (p.Asn470Thrfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1409delA (p.Asn470Thrfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13774884 Accession: RCV000033978.2 ID: 2479878 124. Name: OFD1:c.1360_1363delCTTA (p.Leu454_Lys455delinsAsnfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1360_1363delCTTA (p.Leu454_Lys455delinsAsnfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13774835-13774838 Accession: RCV000033977.2 ID: 2479877 125. Name: OFD1:c.1334_1335delTG (p.Leu445Argfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1334_1335delTG (p.Leu445Argfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13774809-13774810 Accession: RCV000033975.2 ID: 2479875 126. Name: OFD1:c.1323_1326delAGAA (p.Lys441_Glu442delinsLysfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1323_1326delAGAA (p.Lys441_Glu442delinsLysfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13774798-13774801 Accession: RCV000033974.2 ID: 2479874 127. Name: OFD1:c.1322_1326delAAGAA (p.Lys441_Glu442delinsArgfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1322_1326delAAGAA (p.Lys441_Glu442delinsArgfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13774797-13774801 Accession: RCV000033973.2 ID: 2479873 128. Name: OFD1:c.1319delT (p.Leu440Glnfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1319delT (p.Leu440Glnfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13774794 Accession: RCV000033972.2 ID: 2479872 129. Name: OFD1:c.1318delC (p.Leu440Terfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1318delC (p.Leu440Terfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13774793 Accession: RCV000033971.2 ID: 2479871 130. Name: OFD1:c.1268_1272delAAAAC (p.Gln423_Asn424delinsProfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1268_1272delAAAAC (p.Gln423_Asn424delinsProfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13774743-13774747 Accession: RCV000033969.2 ID: 2479870 131. Name: OFD1:c.1193_1196delAATC (p.Gln398_Ser399delinsLeufs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1193_1196delAATC (p.Gln398_Ser399delinsLeufs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13773333-13773336 Accession: RCV000033964.2 ID: 2479868 132. Name: OFD1:c.1185delA (p.Glu395Aspfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1185delA (p.Glu395Aspfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13773325 Accession: RCV000033963.2 ID: 2479867 133. Name: NM_003611.2:c.936-?_1129+?del AND Oral-facial-digital syndrome Gene(s): OFD1 Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000034055.2 ID: 2426541 134. Name: NM_003611.2:c.654+2_654+4delTAA AND Oral-facial-digital syndrome Gene(s): OFD1 Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13764576-13764578 Accession: RCV000034035.2 ID: 2426522 135. Name: NM_003611.2:c.518-?_935+?del AND Oral-facial-digital syndrome Gene(s): OFD1 Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000034026.2 ID: 2426513 136. Name: OFD1:c.412+2delT AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.412+2delT Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13757153 Accession: RCV000034018.2 ID: 2426506 137. Name: OFD1:c.382-?_412+?del (p.Ser(?_129)_Ser(129_?)Phefs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.382-?_412+?del (p.Ser(?_129)_Ser(129_?)Phefs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13757121-13757151 Accession: RCV000034013.2 ID: 2426501 138. Name: NM_003611.2:c.312+2_312+8delTAAAGTC AND Oral-facial-digital syndrome Gene(s): OFD1 Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13754799-13754805 Accession: RCV000034008.2 ID: 2426497 139. Name: OFD1:c.(?_2261)_(2387_?)del (p.Gly(?_754)_Gly(754_?)Valfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.(?_2261)_(2387_?)del (p.Gly(?_754)_Gly(754_?)Valfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13779204-13779330 Accession: RCV000033996.2 ID: 2426485 140. Name: NM_003611.2:c.1222-?_(*_?)del AND Oral-facial-digital syndrome Gene(s): OFD1 Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000033968.2 ID: 2426459 141. Name: OFD1:c.1221+1delG AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1221+1delG Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13773362 Accession: RCV000033967.2 ID: 2426458 142. Name: NM_003611.2:c.1220_1221+1delAGG AND Oral-facial-digital syndrome Gene(s): OFD1 Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13773360-13773362 Accession: RCV000033966.2 ID: 2426457 143. Name: NM_003611.2:c.1130-22_1130-19delAATT AND Oral-facial-digital syndrome Gene(s): OFD1 Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13773248-13773251 Accession: RCV000033961.2 ID: 2426452 144. Name: NM_003611.2:c.(?_-311)_1542+?del AND Oral-facial-digital syndrome Gene(s): OFD1 Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13752832-13775909 Accession: RCV000033950.2 ID: 2426441 145. Name: NM_003611.2:c.(?_-360)_828+?del AND Oral-facial-digital syndrome Gene(s): OFD1 Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000033949.2 ID: 2426440 146. Name: ARID1B, 11-BP DEL, NT6463 AND Mental retardation, autosomal dominant 12 Gene(s): ARID1B Phenotype: Mental retardation, autosomal dominant 12 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000024208.2 ID: 2424093 147. Name: GRHL3, 4-BP DEL, 1559GGAG 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: RCV000087750.2 ID: 2408137 148. Name: RECQL4:c.3599_3600delCG (p.Thr1200Argfs) AND Rapadilino syndrome Gene(s): RECQL4 Variation: c.3599_3600delCG (p.Thr1200Argfs) Phenotype: Rapadilino syndrome Clinical Significance: Likely pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):145736841-145736842 Accession: RCV000049823.1 ID: 2494534 149. Name: RECQL4:c.3072delA (p.Val1026Cysfs) AND Rapadilino syndrome Gene(s): RECQL4 Variation: c.3072delA (p.Val1026Cysfs) Phenotype: Rapadilino syndrome Clinical Significance: Likely pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):145737691 Accession: RCV000049820.1 ID: 2494531 150. Name: RECQL4:c.1887_1890delGGAG (p.Glu630Alafs) AND Rapadilino syndrome Gene(s): RECQL4 Variation: c.1887_1890delGGAG (p.Glu630Alafs) Phenotype: Rapadilino syndrome Clinical Significance: Likely pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):145739480-145739483 Accession: RCV000049815.1 ID: 2494526 151. Name: RECQL4:c.1885_1888delCGGG (p.Arg629_Glu630delinsSerfs) AND Rapadilino syndrome Gene(s): RECQL4 Variation: c.1885_1888delCGGG (p.Arg629_Glu630delinsSerfs) Phenotype: Rapadilino syndrome Clinical Significance: Likely pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):145739482-145739485 Accession: RCV000049814.1 ID: 2494525 152. Name: RECQL4:c.1573delT (p.Cys525Alafs) AND Rapadilino syndrome Gene(s): RECQL4 Variation: c.1573delT (p.Cys525Alafs) Phenotype: Rapadilino syndrome Clinical Significance: Likely pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):145740367 Accession: RCV000049813.1 ID: 2494524 153. Name: KDM6A:c.3354_3356delTCT (p.Leu1119del) AND Kabuki syndrome 2 Gene(s): KDM6A Variation: c.3354_3356delTCT (p.Leu1119del) Phenotype: Kabuki syndrome 2 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):44942774-44942776 Accession: RCV000033121.23 ID: 2479515 154. Name: GLI3:c.3386_3387delTT (p.Phe1129Terfs) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.3386_3387delTT (p.Phe1129Terfs) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):42005284-42005285 Accession: RCV000031882.1 ID: 2478651 155. Name: GLI3:c.3004delG (p.Val1002Terfs) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.3004delG (p.Val1002Terfs) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):42005667 Accession: RCV000031880.1 ID: 2478649 156. Name: GLI3:c.2935delT (p.Cys979Alafs) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.2935delT (p.Cys979Alafs) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):42005736 Accession: RCV000031879.1 ID: 2478648 157. Name: GLI3:c.2628delC (p.Ser876Ser=fs) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.2628delC (p.Ser876Ser=fs) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):42006043 Accession: RCV000031877.1 ID: 2478646 158. Name: GLI3:c.2620delC (p.Arg874Alafs) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.2620delC (p.Arg874Alafs) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):42006051 Accession: RCV000031876.1 ID: 2478645 159. Name: GLI3:c.2483delC (p.Pro828Argfs) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.2483delC (p.Pro828Argfs) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):42006188 Accession: RCV000031874.1 ID: 2478643 160. Name: GLI3:c.2351_2355del5 (p.Lys784_Gln785delinsSerfs) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.2351_2355del5 (p.Lys784_Gln785delinsSerfs) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):42007270-42007274 Accession: RCV000031872.1 ID: 2478641 161. Name: GLI3:c.2346_2356del11 (p.Arg782_Val786delinsSerGlufs) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.2346_2356del11 (p.Arg782_Val786delinsSerGlufs) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):42007269-42007279 Accession: RCV000031871.1 ID: 2478640 162. Name: GLI3:c.2197_2198delAC (p.Thr733Argfs) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.2197_2198delAC (p.Thr733Argfs) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):42007427-42007428 Accession: RCV000031870.1 ID: 2478639 163. Name: GLI3:c.2157delC (p.Pro719Pro=fs) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.2157delC (p.Pro719Pro=fs) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):42007468 Accession: RCV000031868.1 ID: 2478637 164. Name: GLI3:c.2139delC (p.Cys713Terfs) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.2139delC (p.Cys713Terfs) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):42007486 Accession: RCV000031865.1 ID: 2478634 165. Name: GLI3:c.2032delG (p.Asp678Thrfs) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.2032delG (p.Asp678Thrfs) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):42012007 Accession: RCV000031861.1 ID: 2478630 166. Name: GLI3:c.1998_2001del4 (p.Gly666_Arg667delinsGlyfs) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.1998_2001del4 (p.Gly666_Arg667delinsGlyfs) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):42012038-42012041 Accession: RCV000031860.1 ID: 2478629 167. Name: FLNB:c.4747_4749delGAC (p.Asp1583del) AND Atelosteogenesis type 1 Gene(s): FLNB Variation: c.4747_4749delGAC (p.Asp1583del) Phenotype: Atelosteogenesis type 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58121781-58121783 Accession: RCV000020447.2 ID: 2473428 168. Name: FLNB:c.4711_4713delAAT (p.Asn1571del) AND Larsen syndrome, dominant type Gene(s): FLNB Variation: c.4711_4713delAAT (p.Asn1571del) Phenotype: Larsen syndrome, dominant type Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):58121745-58121747 Accession: RCV000020446.2 ID: 2473427 169. Name: TGFBR1:c.344-74delT AND Loeys-Dietz syndrome Gene(s): TGFBR1 Variation: c.344-74delT Phenotype: Loeys-Dietz syndrome Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):101894717 Accession: RCV000030539.1 ID: 2425031 170. Name: NC_000023.11:g.45007057_45053473del46417 AND Kabuki syndrome 2 Gene(s): KDM6A Phenotype: Kabuki syndrome 2 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):44866302-44912718 Accession: RCV000022826.21 ID: 2423680 171. Name: SEMA3A, 213-KB DEL AND Hypogonadotropic hypogonadism 16 with or without anosmia Gene(s): SEMA3A Phenotype: Hypogonadotropic hypogonadism 16 with or without anosmia Clinical Significance: risk factor Review Status: classified by single submitter Accession: RCV000032920.1 ID: 2382718 172. Name: MEGF10, 1-BP DEL, 1325C 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: RCV000023954.2 ID: 2380817 173. Name: KIF7, 2-BP DEL AND Hydrolethalus syndrome 2 Gene(s): KIF7 Phenotype: Hydrolethalus syndrome 2 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000023880.1 ID: 2380744 174. Name: POLR1D, 2-BP DEL, 326CA AND Treacher collins syndrome 2 Gene(s): POLR1D Phenotype: Treacher collins syndrome 2 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000024046.1 ID: 2424060 175. Name: COL2A1, 1-BP DEL, EX50 AND Stickler syndrome type 1 Gene(s): COL2A1 Phenotype: Stickler syndrome type 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000018916.26 ID: 2422003 176. Name: COL2A1, 1-BP DEL, EX40 AND Stickler syndrome type 1 Gene(s): COL2A1 Phenotype: Stickler syndrome type 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000018902.26 ID: 2421989 177. Name: GLI2, 1-BP DEL, NT2274 AND Holoprosencephaly 9 Gene(s): GLI2 Phenotype: Holoprosencephaly 9 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000014846.20 ID: 2420895 178. Name: MID1, 2-BP DEL, 1545GA AND Opitz-Frias syndrome Gene(s): MID1 Phenotype: Opitz-Frias syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000011559.6 ID: 2419302 179. Name: TBX1, 23-BP DEL, NT1320 AND Shprintzen syndrome Gene(s): TBX1 Phenotype: Shprintzen syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000008002.2 ID: 2417581 180. Name: ROR2, EX6,7DEL AND Robinow syndrome, autosomal recessive Gene(s): ROR2 Phenotype: Robinow syndrome, autosomal recessive Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000007739.1 ID: 2417470 181. Name: TCTN3, 2-BP DEL, NT566 AND Orofacial-digital syndrome IV Gene(s): TCTN3 Phenotype: Orofacial-digital syndrome IV Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000030713.3 ID: 2381614 182. Name: TCTN3, 4-BP DEL, NT650 AND Orofacial-digital syndrome IV Gene(s): TCTN3 Phenotype: Orofacial-digital syndrome IV Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000030711.3 ID: 2381612 183. Name: POLR1C, 1-BP DEL, 87T AND Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Gene(s): POLR1C Phenotype: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000023799.1 ID: 2380664 184. Name: POLR1C, IVS8, 4-BP DEL, +3 AND Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Gene(s): POLR1C Phenotype: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000023797.1 ID: 2380662 185. Name: TFAP2A, 12-BP DEL, NT697 AND Branchiooculofacial syndrome Gene(s): TFAP2A Phenotype: Branchiooculofacial syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000019532.25 ID: 2273648 186. Name: TAC3:c.61delG (p.Ala21Leufs) AND Hypogonadotropic hypogonadism 10 with or without anosmia Gene(s): TAC3 Variation: c.61delG (p.Ala21Leufs) Phenotype: Hypogonadotropic hypogonadism 10 with or without anosmia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):57409521 Accession: RCV000056318.24 ID: 2496293 187. Name: TGFB2:c.1105_1109delTACAA (p.Tyr369Cysfs) AND Loeys-Dietz syndrome, type 4 Gene(s): TGFB2 Variation: c.1105_1109delTACAA (p.Tyr369Cysfs) Phenotype: Loeys-Dietz syndrome, type 4 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):218610773-218610777 Accession: RCV000030734.25 ID: 2477699 188. Name: TGFB2:c.294_308delCTACGCCAAGGAGGT (p.Ala100_Tyr104del) AND Loeys-Dietz syndrome, type 4 Gene(s): TGFB2 Variation: c.294_308delCTACGCCAAGGAGGT (p.Ala100_Tyr104del) Phenotype: Loeys-Dietz syndrome, type 4 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):218520337-218520351 Accession: RCV000030733.24 ID: 2477698 189. Name: COL2A1:c.3138delT (p.Pro1046Pro=fs) AND Stickler syndrome type 1 Gene(s): COL2A1 Variation: c.3138delT (p.Pro1046Pro=fs) Phenotype: Stickler syndrome type 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):48371410 Accession: RCV000018909.26 ID: 2472300 190. Name: COL9A2, 8-BP DEL, NT843 AND Stickler syndrome, type 5 Gene(s): COL9A2 Phenotype: Stickler syndrome, type 5 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000022493.22 ID: 2423574 191. Name: COL2A1, 2-BP DEL, 4274GT 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: RCV000018929.26 ID: 2422016 192. Name: COL11A1, 54-BP EX DEL, AS, AG-TG AND Stickler syndrome, type 2 Gene(s): COL11A1 Phenotype: Stickler syndrome, type 2 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000018673.26 ID: 2421849 193. Name: MID1, 3-BP DEL, MET438 AND Opitz-Frias syndrome Gene(s): MID1 Phenotype: Opitz-Frias syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000011552.5 ID: 2419295 194. Name: LMX1B, DEL AND Nail-patella syndrome Gene(s): LMX1B Phenotype: Nail-patella syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000007427.1 ID: 2417372 195. Name: LMX1B, 17-BP DEL AND Nail-patella syndrome Gene(s): LMX1B Phenotype: Nail-patella syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000007426.1 ID: 2417371 196. Name: LMX1B, 2-BP DEL, 233TG AND Nail-patella syndrome Gene(s): LMX1B Phenotype: Nail-patella syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000007419.1 ID: 2417364 197. Name: SOX9, 30-BP DEL AND Camptomelic dysplasia Gene(s): SOX9 Phenotype: Camptomelic dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000002622.1 ID: 2416128 198. Name: NIPBL, 1-BP DEL, 150G AND Cornelia de Lange syndrome 1 Gene(s): NIPBL Phenotype: Cornelia de Lange syndrome 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000002223.1 ID: 2415995 199. Name: FGFR2, VAL-VAL DEL AND Saethre-Chotzen syndrome Gene(s): FGFR2 Phenotype: Saethre-Chotzen syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000014207.24 ID: 2375571 200. Name: DHCR7, 96-BP DEL AND Smith-Lemli-Opitz syndrome Gene(s): DHCR7 Phenotype: Smith-Lemli-Opitz syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000007179.1 ID: 2368851 201. Name: RPL5, 2-BP DEL, 173GA AND Aase syndrome Gene(s): RPL5 Phenotype: Aase syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000006558.1 ID: 2368245 202. Name: SLC26A2, 1-BP DEL, 418C AND Atelosteogenesis type 2 Gene(s): SLC26A2 Phenotype: Atelosteogenesis type 2 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000004304.1 ID: 2366036 203. Name: COL11A2, 27-BP DEL AND Stickler syndrome, type 3 Gene(s): COL11A2 Phenotype: Stickler syndrome, type 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000018659.26 ID: 2272789 204. Name: COL2A1, 28-BP DEL AND Kniest dysplasia Gene(s): COL2A1 Phenotype: Kniest dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000018906.22 ID: 2421993 205. Name: NG_008872.1:g.16740_20819del AND Oral-facial-digital syndrome Gene(s): OFD1 Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13764571-13768650 Accession: RCV000012298.10 ID: 2419922 206. Name: OFD1, 19-BP DEL, NT294 AND Oral-facial-digital syndrome Gene(s): OFD1 Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000012295.21 ID: 2419919 207. Name: TP63, 2-BP DEL, 1743AA AND Limb-mammary syndrome Gene(s): TP63 Phenotype: Limb-mammary syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000006913.2 ID: 2417250 208. Name: TCOF1:c.1408_1409delAG (p.Ser470Glnfs) AND Treacher collins syndrome 1 Gene(s): TCOF1 Variation: c.1408_1409delAG (p.Ser470Glnfs) Phenotype: Treacher collins syndrome 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 5 Location (GRCh38):149755052-149755053 Accession: RCV000004171.2 ID: 2416561 209. Name: TCOF1:c.497_500delATAC (p.Asn166Ilefs) AND Treacher collins syndrome 1 Gene(s): TCOF1 Variation: c.497_500delATAC (p.Asn166Ilefs) Phenotype: Treacher collins syndrome 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 5 Location (GRCh38):149748397-149748400 Accession: RCV000004168.2 ID: 2416558 210. Name: COL2A1:c.1266+1delG AND Kniest dysplasia Gene(s): COL2A1 Variation: c.1266+1delG Phenotype: Kniest dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):48381051 Accession: RCV000018918.27 ID: 2422005 211. Name: RECQL4:c.1390+2delT AND Rapadilino syndrome Gene(s): RECQL4 Variation: c.1390+2delT Phenotype: Rapadilino syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):145740708 Accession: RCV000049811.1 ID: 2386283 212. Name: KIF7, 2-BP DEL AND Acrocallosal syndrome, Schinzel type Gene(s): KIF7 Phenotype: Acrocallosal syndrome, Schinzel type Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000023881.1 ID: 2380745 213. Name: ERCC5, 1-BP DEL, 2972T AND Xeroderma pigmentosum group g/Cockayne syndrome Gene(s): ERCC5 Phenotype: Xeroderma pigmentosum group g/Cockayne syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000018036.26 ID: 2272169 214. Name: GLI2:c.864_865delCC (p.His289Profs) AND Holoprosencephaly 9 Gene(s): GLI2 Variation: c.864_865delCC (p.His289Profs) Phenotype: Holoprosencephaly 9 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 2 Location (GRCh38):121727987-121727988 Accession: RCV000030729.22 ID: 2477694 215. Name: TCOF1:c.1406_1409delAGAG (p.Glu469Alafs) AND Treacher collins syndrome 1 Gene(s): TCOF1 Variation: c.1406_1409delAGAG (p.Glu469Alafs) Phenotype: Treacher collins syndrome 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 5 Location (GRCh38):149755050-149755053 Accession: RCV000114943.1 ID: 2452209 216. Name: TCOF1:c.4134delA (p.Glu1379Lysfs) AND Treacher collins syndrome 1 Gene(s): TCOF1 Variation: c.4134delA (p.Glu1379Lysfs) Phenotype: Treacher collins syndrome 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 5 Location (GRCh38):149777939 Accession: RCV000004174.2 ID: 2416564 217. Name: TMEM67, 1-BP DEL, 647A AND Meckel syndrome type 3 Gene(s): TMEM67 Phenotype: Meckel syndrome type 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000001431.2 ID: 2363238 218. Name: GLI3:c.2188_2206del (p.Leu730_Gly736delinsValfs) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.2188_2206del (p.Leu730_Gly736delinsValfs) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 7 Location (GRCh38):42007419-42007437 Accession: RCV000014841.20 ID: 2469663 219. Name: GLI3:c.2012delG (p.Gly671Glufs) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.2012delG (p.Gly671Glufs) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 7 Location (GRCh38):42012027 Accession: RCV000014826.20 ID: 2469655 220. Name: GLI3:c.2023delG (p.Glu675Serfs) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.2023delG (p.Glu675Serfs) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 7 Location (GRCh38):42012016 Accession: RCV000014825.24 ID: 2469654 221. Name: FLNB:c.6408delC (p.Pro2136Pro=fs) AND Spondylocarpotarsal synostosis syndrome Gene(s): FLNB Variation: c.6408delC (p.Pro2136Pro=fs) Phenotype: Spondylocarpotarsal synostosis syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 3 Location (GRCh38):58139142 Accession: RCV000006767.2 ID: 2465011 222. Name: SMAD3:c.313delG (p.Ala105Profs) AND Loeys-Dietz syndrome type 3 Gene(s): SMAD3 Variation: c.313delG (p.Ala105Profs) Phenotype: Loeys-Dietz syndrome type 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 15 Location (GRCh38):67457339 Accession: RCV000023248.2 ID: 2423882 223. Name: SMAD3:c.741_742delAT (p.Phe248Profs) AND Loeys-Dietz syndrome type 3 Gene(s): SMAD3 Variation: c.741_742delAT (p.Phe248Profs) Phenotype: Loeys-Dietz syndrome type 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 15 Location (GRCh38):67473661-67473662 Accession: RCV000023242.2 ID: 2423876 224. Name: PQBP1, 2-BP DEL, 3898AG AND Renpenning syndrome Gene(s): PQBP1 Phenotype: Renpenning syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000011728.1 ID: 2419467 225. Name: FOXC2, 8-BP DEL, NT914 AND Distichiasis-lymphedema syndrome Gene(s): FOXC2 Phenotype: Distichiasis-lymphedema syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000007679.2 ID: 2417448 226. Name: ZEB2, 4-BP DEL, NT1173 AND Mowat-Wilson syndrome Gene(s): ZEB2 Phenotype: Mowat-Wilson syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000005022.1 ID: 2416791 227. Name: RECQL4, 1-BP DEL, 2886T AND Baller-Gerold syndrome Gene(s): RECQL4 Phenotype: Baller-Gerold syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000006446.2 ID: 2368135 228. Name: SLC26A2, 1-BP DEL, 1751A AND Atelosteogenesis type 2 Gene(s): SLC26A2 Phenotype: Atelosteogenesis type 2 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000004303.1 ID: 2366035 229. Name: OFD1:c.312delG (p.Lys104Lys=fs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.312delG (p.Lys104Lys=fs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: X Location (GRCh38):13754797 Accession: RCV000012294.24 ID: 2468048 230. Name: TP63, 2-BP DEL, 1576TT AND Limb-mammary syndrome Gene(s): TP63 Phenotype: Limb-mammary syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000006912.2 ID: 2417249 231. Name: TCOF1:c.4138_4142delAAGAA (p.Lys1380Glufs) AND Treacher collins syndrome 1 Gene(s): TCOF1 Variation: c.4138_4142delAAGAA (p.Lys1380Glufs) Phenotype: Treacher collins syndrome 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 5 Location (GRCh38):149777943-149777947 Accession: RCV000004169.2 ID: 2416559 232. Name: AMER1, DEL AND Osteopathia striata with cranial sclerosis Gene(s): AMER1 Phenotype: Osteopathia striata with cranial sclerosis Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000011452.6 ID: 2373005 233. Name: SMAD3:c.653delA (p.Asn218Thrfs) AND Loeys-Dietz syndrome type 3 Gene(s): SMAD3 Variation: c.653delA (p.Asn218Thrfs) Phenotype: Loeys-Dietz syndrome type 3 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 15 Location (GRCh38):67462937 Accession: RCV000023244.2 ID: 2423878 234. Name: NM_000356.3:c.376_378+15del18 AND Treacher collins syndrome 1 Gene(s): TCOF1 Phenotype: Treacher collins syndrome 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 5 Location (GRCh38):149747478-149747495 Accession: RCV000004173.3 ID: 2416563 235. Name: COL11A1, 54-BP DEL AND Marshall syndrome Gene(s): COL11A1 Phenotype: Marshall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000018670.26 ID: 2421846