MYL3, myosin light chain 3, 4634

N. diseases: 37; N. variants: 17
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893748
rs104893748
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C1837471
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs104893748
rs104893748
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C1837471
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs104893748
rs104893748
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C1837471
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		0.800 GeneticVariation UNIPROT Infantile hypertrophic cardiomyopathy associated with a novel MYL3 mutation. 23594557 2013
dbSNP: rs104893748
rs104893748
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C1837471
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs104893748
rs104893748
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C1837471
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). 21267010 2011
dbSNP: rs104893748
rs104893748
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C1837471
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		0.800 GeneticVariation UNIPROT Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239 2003
dbSNP: rs104893748
rs104893748
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C1837471
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		0.800 GeneticVariation UNIPROT Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology. 12021217 2002
dbSNP: rs104893748
rs104893748
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C1837471
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		0.800 GeneticVariation UNIPROT Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. 8673105 1996
dbSNP: rs104893748
rs104893748
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C1837471
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		C 0.800 CausalMutation CLINVAR