MYL3[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[ - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1911741.	NM_000258.3(MYL3):c.482-10C>T GRCh37: Chr3:46899961 GRCh38: Chr3:46858471	MYL3		not provided	Likely pathogenic	no assertion criteria provided
Select item 1814442.	NM_000258.3(MYL3):c.447G>T (p.Met149Ile) GRCh37: Chr3:46900999 GRCh38: Chr3:46859509	MYL3	M149I	not provided	Likely pathogenic (May 30, 2017)	criteria provided, single submitter
Select item 140613.	NM_000258.3(MYL3):c.445A>G (p.Met149Val) GRCh37: Chr3:46901001 GRCh38: Chr3:46859511	MYL3	M149V	not provided, Hypertrophic cardiomyopathy	Pathogenic (Aug 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 317774.	NM_000258.3(MYL3):c.281G>A (p.Arg94His) GRCh37: Chr3:46902192 GRCh38: Chr3:46860702	MYL3	R94H	Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy, not provided	Pathogenic/Likely pathogenic (Sep 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1814475.	NM_000258.3(MYL3):c.193C>T (p.Pro65Ser) GRCh37: Chr3:46902280 GRCh38: Chr3:46860790	MYL3	P65S	not provided	Likely pathogenic (Sep 23, 2011)	criteria provided, single submitter
Select item 6352256.	NM_000258.3(MYL3):c.64G>A (p.Ala22Thr) GRCh37: Chr3:46904817 GRCh38: Chr3:46863327	MYL3	A22T	not provided	Likely pathogenic (Sep 15, 2016)	no assertion criteria provided

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