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Links from MedGen

Items: 2

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:23855189
GRCh38:
Chr14:23385980
LOC126861896, MYH6A1704Vnot specified, Chest pain, Hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy 14
Uncertain significance
(Jul 25, 2022)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr14:23894048
GRCh38:
Chr14:23424839
LOC126861898, MYH7R870HHypertrophic cardiomyopathyPathogenic
(Dec 15, 2016)
reviewed by expert panel
FDA Recognized Database