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Links from MedGen

Items: 2

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:23894001-23894094
GRCh38:
Chr14:23424792-23424885
LOC126861898, MYH7E855fsBiventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathyLikely pathogenic
(Oct 15, 2020)
criteria provided, single submitter
2.
GRCh37:
Chr14:23899005-23899010
GRCh38:
Chr14:23429796-23429801
MYH7Biventricular noncompaction cardiomyopathyUncertain significance
(Oct 15, 2015)
no assertion criteria provided