01
At a glance
Association overview
02
Provenance
Evidence and sources
03
LOC114827850
The gene
04
Hypertrophic Cardiomyopathy
The disorder
05
ClinVar and variant evidence
Genetic basis
07
Provenance
The association between LOC114827850 (VISTA Enhancer Hs2149) and Hypertrophic Cardiomyopathy is well established and manually curated, drawing on a single expert-curated source, which records likely-pathogenic variants.