| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | DOORS syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 86 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +3 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 16 +7 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Inborn genetic diseases +7 more | |
Click to view in NCBI Gene