| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC126861896, MYH6 (E1584K) | Single nucleotide variant (missense variant) | Atrial septal defect 3 +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Hypertrophic cardiomyopathy 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | MYH6-related cardiac defects +5 more | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +8 more | |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy 14 | |
| | | Single nucleotide variant (intron variant) | Hypertrophic cardiomyopathy 14 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Hypertrophic cardiomyopathy 14 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy 14 +4 more | |
| | | Single nucleotide variant (nonsense) | Hypertrophic cardiomyopathy 1 +5 more | |
| | LOC114827851, MYH6 (M165L) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1EE +6 more | |
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