| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 6 +5 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 6 +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Wolfram syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Wolfram syndrome 1 +1 more | GLikely pathogenic/Likely risk allele |
| | | Single nucleotide variant (missense variant) | Wolfram-like syndrome +5 more | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | JAKMIP1, KIAA0232
+90 more | Copy number loss | 4p partial monosomy syndrome | |
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