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Items: 2

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:111352094
GRCh38:
Chr12:110914290
MYL2Primary familial hypertrophic cardiomyopathy, not providedLikely pathogenic
(Jan 6, 2015)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr3:46901019
GRCh38:
Chr3:46859529
MYL3Familial hypertrophic cardiomyopathy 8, not specified, Hypertrophic cardiomyopathy,
Cardiovascular phenotype
Conflicting interpretations of pathogenicity, not provided
(Mar 31, 2016)
criteria provided, conflicting interpretations
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