1. Name: PVRL1, 1-BP DUP 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: RCV000009534.1 ID: 2371165 2. Name: TP63, 11-BP DUP, NT1716 AND Ankyloblepharon-ectodermal defects, cleft lip/palate Gene(s): TP63 Phenotype: Ankyloblepharon-ectodermal defects, cleft lip/palate Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000006930.1 ID: 2417267 3. Name: TBX22, 3-BP DUP, 583GCT AND Cleft palate with ankyloglossia Gene(s): TBX22 Phenotype: Cleft palate with ankyloglossia Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000012088.11 ID: 2373634 4. Name: EPG5, 1-BP DUP, 5704T AND Absent corpus callosum cataract immunodeficiency Gene(s): EPG5 Phenotype: Absent corpus callosum cataract immunodeficiency Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000033115.1 ID: 2382911 5. Name: ESCO2:c.417dupA (p.Lys139delinsLysThrfs) AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Variation: c.417dupA (p.Lys139delinsLysThrfs) Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):27634242-27634243 Accession: RCV000020407.1 ID: 2473398 6. Name: ESCO2:c.1597dupT (p.Cys533delinsLeuTrpfs) AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Variation: c.1597dupT (p.Cys533delinsLeuTrpfs) Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):27657157-27657158 Accession: RCV000020400.1 ID: 2473391 7. Name: ESCO2:c.1111dupA (p.Thr371delinsAsnLysfs) AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Variation: c.1111dupA (p.Thr371delinsAsnLysfs) Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):27645499-27645500 Accession: RCV000020394.1 ID: 2473385 8. Name: ESCO2:c.751dupG (p.Glu251delinsGlyLysfs) AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Variation: c.751dupG (p.Glu251delinsGlyLysfs) Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 8 Location (GRCh38):27634576-27634577 Accession: RCV000001807.1 ID: 2461769 9. Name: ESCO2:c.760dupA (p.Thr254delinsAsnPhefs) AND Roberts-SC phocomelia syndrome Gene(s): ESCO2 Variation: c.760dupA (p.Thr254delinsAsnPhefs) Phenotype: Roberts-SC phocomelia syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: 8 Location (GRCh38):27634585-27634586 Accession: RCV000001808.1 ID: 2461770 10. Name: TP63, 11-BP DUP, NT1716 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: RCV000006929.1 ID: 2417266 11. Name: COL2A1, 45-BP DUP, EX48 AND Spondyloepiphyseal dysplasia congenita Gene(s): COL2A1 Phenotype: Spondyloepiphyseal dysplasia congenita Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000018898.22 ID: 2421985 12. Name: CTCF, 1-BP DUP, 375T AND Mental retardation, autosomal dominant 21 Gene(s): CTCF Phenotype: Mental retardation, autosomal dominant 21 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000074333.1 ID: 2404042 13. Name: MEGF10, 10-BP DUP, NT2288 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: RCV000023950.1 ID: 2380813 14. Name: CHRNG, 1-BP DUP, 459A AND Lethal multiple pterygium syndrome Gene(s): CHRNG Phenotype: Lethal multiple pterygium syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000022419.26 ID: 2379328 15. Name: CHRNA1, 17-BP DUP, NT117 AND Lethal multiple pterygium syndrome Gene(s): CHRNA1 Phenotype: Lethal multiple pterygium syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000020057.26 ID: 2274168 16. Name: OFD1:c.898_899dupGA (p.Glu300delinsGluLysfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.898_899dupGA (p.Glu300delinsGluLysfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13767616-13767617 Accession: RCV000034053.2 ID: 2479941 17. Name: OFD1:c.790dupG (p.Glu264delinsGlyLysfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.790dupG (p.Glu264delinsGlyLysfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13765034-13765035 Accession: RCV000034044.2 ID: 2479932 18. Name: OFD1:c.65dupA (p.Lys22delinsLysAlafs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.65dupA (p.Lys22delinsLysAlafs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13753419-13753420 Accession: RCV000034036.2 ID: 2479925 19. Name: OFD1:c.431dupT (p.Leu144delinsPheLysfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.431dupT (p.Leu144delinsPheLysfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13762552-13762553 Accession: RCV000034022.2 ID: 2479915 20. Name: OFD1:c.313dupG (p.Val105delinsGlyIlefs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.313dupG (p.Val105delinsGlyIlefs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13756965-13756966 Accession: RCV000034010.2 ID: 2479906 21. Name: OFD1:c.2123_2126dupAAGA (p.Glu708_Glu709delinsGluGluArgLysfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.2123_2126dupAAGA (p.Glu708_Glu709delinsGluGluArgLysfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13778702-13778705 Accession: RCV000033991.2 ID: 2479890 22. Name: OFD1:c.2044dupA (p.Ile682delinsAsnTyrfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.2044dupA (p.Ile682delinsAsnTyrfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13778623-13778624 Accession: RCV000033989.2 ID: 2479888 23. Name: OFD1:c.1178dupA (p.Lys393delinsLysGlyfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.1178dupA (p.Lys393delinsLysGlyfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):13773318-13773319 Accession: RCV000033962.2 ID: 2479866 24. Name: GLI3:c.2172_2173insC (p.Ser724_Asn725delinsSerGlnGlnfs) AND Pallister-Hall syndrome Gene(s): GLI3 Variation: c.2172_2173insC (p.Ser724_Asn725delinsSerGlnGlnfs) Phenotype: Pallister-Hall syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):42007452-42007453 Accession: RCV000031869.1 ID: 2478638 25. Name: TWIST1:c.308_309insA (p.Tyr103delinsTerArgfs) AND Saethre-Chotzen syndrome Gene(s): TWIST1 Variation: c.308_309insA (p.Tyr103delinsTerArgfs) Phenotype: Saethre-Chotzen syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):19156636-19156637 Accession: RCV000008437.1 ID: 2466126 26. Name: TCOF1:c.2876dupG (p.Ser959Argfs) AND Treacher collins syndrome 1 Gene(s): TCOF1 Variation: c.2876dupG (p.Ser959Argfs) Phenotype: Treacher collins syndrome 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 5 Location (GRCh38):149769510 Accession: RCV000114944.1 ID: 2452210 27. Name: POLR1D, 2-BP DUP, 263G AND Treacher collins syndrome 2 Gene(s): POLR1D Phenotype: Treacher collins syndrome 2 Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000024047.1 ID: 2424061 28. Name: MID1, EX1 DUP AND Opitz-Frias syndrome Gene(s): MID1 Phenotype: Opitz-Frias syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000011557.3 ID: 2419300 29. Name: MID1, 24-BP DUP AND Opitz-Frias syndrome Gene(s): MID1 Phenotype: Opitz-Frias syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000011553.3 ID: 2419296 30. Name: PORCN, 13-BP DUP, NT1059 AND Focal dermal hypoplasia Gene(s): PORCN Phenotype: Focal dermal hypoplasia Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000011446.6 ID: 2419197 31. Name: FOXC2, 4-BP DUP, NT1093 AND Distichiasis-lymphedema syndrome Gene(s): FOXC2 Phenotype: Distichiasis-lymphedema syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000007672.1 ID: 2417441 32. Name: SEPT9, 38-KB DUP AND Hereditary neuralgic amyotrophy Gene(s): SEPT9 Phenotype: Hereditary neuralgic amyotrophy Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000006224.1 ID: 2367915 33. Name: OFD1:c.710dupA (p.Lys237delinsLysValfs) AND Oral-facial-digital syndrome Gene(s): OFD1 Variation: c.710dupA (p.Lys237delinsLysValfs) Phenotype: Oral-facial-digital syndrome Clinical Significance: Pathogenic Review Status: classified by multiple submitters Chromosome: X Location (GRCh38):13764954-13764955 Accession: RCV000034042.3 ID: 2479930 34. Name: TCOF1:c.422dupA (p.His141Glnfs) AND Treacher collins syndrome 1 Gene(s): TCOF1 Variation: c.422dupA (p.His141Glnfs) Phenotype: Treacher collins syndrome 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 5 Location (GRCh38):149748322 Accession: RCV000004167.2 ID: 2416557 35. Name: TWIST1, 21-BP DUP AND Saethre-Chotzen syndrome Gene(s): TWIST1 Phenotype: Saethre-Chotzen syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Accession: RCV000008443.1 ID: 2417758 36. Name: ARX:c.428_451dup (p.Gly143_Ala151delinsGlyAlaAlaAlaAlaAlaAlaAlaGlyAlaAlaAlaAlaAlaAlaAlaAla) AND Epileptic encephalopathy, early infantile, 1 Gene(s): ARX Variation: c.428_451dup (p.Gly143_Ala151delinsGlyAlaAlaAlaAlaAlaAlaAlaGlyAlaAlaAlaAlaAlaAlaAlaAla) Phenotype: Epileptic encephalopathy, early infantile, 1 Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):25031660-25031661 Accession: RCV000011937.8 ID: 2459031 37. Name: ARX:c.428_451dup (p.Gly143_Ala151delinsGlyAlaAlaAlaAlaAlaAlaAlaGlyAlaAlaAlaAlaAlaAlaAlaAla) AND Partington X-linked mental retardation syndrome Gene(s): ARX Variation: c.428_451dup (p.Gly143_Ala151delinsGlyAlaAlaAlaAlaAlaAlaAlaGlyAlaAlaAlaAlaAlaAlaAlaAla) Phenotype: Partington X-linked mental retardation syndrome Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):25031660-25031661 Accession: RCV000033212.16 ID: 2426276 38. Name: ARX:c.428_451dup (p.Gly143_Ala151delinsGlyAlaAlaAlaAlaAlaAlaAlaGlyAlaAlaAlaAlaAlaAlaAlaAla) AND X-linked mental retardation, with or without seizures, ARX-related Gene(s): ARX Variation: c.428_451dup (p.Gly143_Ala151delinsGlyAlaAlaAlaAlaAlaAlaAlaGlyAlaAlaAlaAlaAlaAlaAlaAla) Phenotype: X-linked mental retardation, with or without seizures, ARX-related Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):25031660-25031661 Accession: RCV000011938.8 ID: 2419596