| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Brachydactyly-arterial hypertension syndrome | |
| | | Single nucleotide variant (missense variant) | Brachydactyly-arterial hypertension syndrome | |
| | | Single nucleotide variant (missense variant) | Brachydactyly-arterial hypertension syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Brachydactyly-arterial hypertension syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
Click to view in NCBI Gene