| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | TJP2-related disorder +3 more | |
| | | Deletion (inframe_deletion) | Nonsyndromic Hearing Loss, Dominant +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypercholanemia, familial 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Cholestasis, progressive familial intrahepatic, 4 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (intron variant) | Hypercholanemia, familial 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Hypercholanemia, familial 1 +2 more | |
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