| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 2A | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +15 more | |
| | | Single nucleotide variant (missense variant) | Neuroblastoma, susceptibility to, 3 +2 more | |
| | | Deletion (inframe_deletion +1 more) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (missense variant +2 more) | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | |
| | | Single nucleotide variant (missense variant +2 more) | Hemihypertrophy +3 more | |
| | | Single nucleotide variant (missense variant) | Segmental undergrowth associated with lymphatic malformation +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +8 more | |
| | | Duplication (inframe_indel +1 more) | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +16 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | FGFR2-related craniosynostosis +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Malignant tumor of urinary bladder +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | HRAS-related disorder +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (inframe_indel) | Autosomal dominant nonsyndromic hearing loss 69 | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Rabson-Mendenhall syndrome | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Translocation | Dermatofibrosarcoma protuberans | |