1. Name: TP63, 1-BP INS, 1572A 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: RCV000006903.1 ID: 2417240 2. 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 3. Name: ESCO2:c.1111_1112insG (p.Thr371?fs) AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Variation: c.1111_1112insG (p.Thr371?fs) Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):27645499-27645500 Accession: RCV000020393.1 ID: 2473384 4. 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 5. 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 6. 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 7. 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 8. 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 9. 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 10. Name: COL9A1, 1-BP INS, IVS8, T, +3 AND Multiple epiphyseal dysplasia 6 Gene(s): COL9A1 Phenotype: Multiple epiphyseal dysplasia 6 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000018734.26 ID: 2421859 11. Name: GNRH1, 1-BP INS, 18A AND Hypogonadotropic hypogonadism 12 with or without anosmia Gene(s): GNRH1 Phenotype: Hypogonadotropic hypogonadism 12 with or without anosmia Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000030900.24 ID: 2381782 12. Name: GRHL3, 2-BP INS, 970TG 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: RCV000087749.2 ID: 2408136 13. Name: COL11A1, 1-BP INS, 3816T AND Marshall syndrome Gene(s): COL11A1 Phenotype: Marshall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000018674.26 ID: 2421850 14. Name: B3GALTL, 1-BP INS, 230T AND Peters plus syndrome Gene(s): B3GALTL Phenotype: Peters plus syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000001329.1 ID: 2363137 15. Name: POLR1D, 2-BP INS, 88TG AND Treacher collins syndrome 2 Gene(s): POLR1D Phenotype: Treacher collins syndrome 2 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000024048.1 ID: 2424062 16. Name: RPL5, 1-BP INS, 235T AND Aase syndrome Gene(s): RPL5 Phenotype: Aase syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000006559.1 ID: 2368246 17. Name: MID1, 1-BP INS AND Opitz-Frias syndrome Gene(s): MID1 Phenotype: Opitz-Frias syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000011554.1 ID: 2419297 18. Name: LMX1B, 1-BP INS, 713A AND Nail-patella syndrome Gene(s): LMX1B Phenotype: Nail-patella syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000007417.1 ID: 2417362 19. Name: SOX9, 1-BP INS, 1103A AND Camptomelic dysplasia Gene(s): SOX9 Phenotype: Camptomelic dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000002625.1 ID: 2416131 20. Name: SOX9, 1-BP INS, 1096C AND Camptomelic dysplasia Gene(s): SOX9 Phenotype: Camptomelic dysplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000002615.1 ID: 2416121 21. Name: NIPBL, 1-BP INS, 1546G 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: RCV000002225.1 ID: 2415997 22. Name: DHCR7, 1-BP INS, 586T AND Smith-Lemli-Opitz syndrome Gene(s): DHCR7 Phenotype: Smith-Lemli-Opitz syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000007181.1 ID: 2368853 23. Name: DHCR7, 1-BP INS, 505C AND Smith-Lemli-Opitz syndrome Gene(s): DHCR7 Phenotype: Smith-Lemli-Opitz syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000007180.1 ID: 2368852 24. Name: OFD1:c.1887_1888insAT (p.Ala629_Asn630delinsAlaIleIlefs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1887_1888insAT (p.Ala629_Asn630delinsAlaIleIlefs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: X Location (GRCh38):13778466-13778467 Accession: RCV000012297.11 ID: 2468050 25. Name: NM_000168.5:c.2770_2771insNC_012920.1:g.12243..12314 AND Pallister-Hall syndrome Gene(s): GLI3 Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 7 Location (GRCh38):42005900-42005901 Accession: RCV000014834.21 ID: 2420884 26. Name: FOXC2, 1-BP INS, 589C AND Distichiasis-lymphedema syndrome Gene(s): FOXC2 Phenotype: Distichiasis-lymphedema syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000007677.2 ID: 2417446 27. Name: ZEB2, 1-BP INS, 1421A AND Mowat-Wilson syndrome Gene(s): ZEB2 Phenotype: Mowat-Wilson syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000005023.1 ID: 2416792 28. Name: CHD7, 1-BP INS, 8682T AND CHARGE association Gene(s): CHD7 Phenotype: CHARGE association Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000002117.2 ID: 2415969