| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene