| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC130068358, ZXDA (G253D) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130068358, ZXDA (P237L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130068358, ZXDA (A250S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130068358, ZXDA (L248P) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130068358, ZXDA (Q208H) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130068358, ZXDA (A206V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130068358, ZXDA (E246K) | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (frameshift variant) | Fraser syndrome 3 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
Click to view in NCBI Gene