| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Polyendocrine-polyneuropathy syndrome +4 more | |
| | | Deletion (intron variant) | Developmental and epileptic encephalopathy, 81 +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hearing loss, autosomal dominant 71 +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Developmental and epileptic encephalopathy, 81 +4 more | GConflicting classifications of pathogenicity |
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