Links from PubMed
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2G +5 more | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction | |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1AA +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1AA +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (intron variant +1 more) | Cardiomyopathy +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene