| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided | |
| | TMX2, TMX2-CTNND1 (M125I +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | TMX2, TMX2-CTNND1 (L103fs +4 more) | Deletion (frameshift variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | TMX2, TMX2-CTNND1 (R205Q +4 more) | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | TMX2, TMX2-CTNND1 (V148fs +6 more) | Deletion (frameshift variant +2 more) | not provided | |
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