| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome +2 more | |
Click to view in NCBI Gene