"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 44541	NM_002471.4(MYH6):c.622G>A (p.Asp208Asn)	LOC114827851, MYH6 (D208N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GBenign/Likely benign
Select item 942862	NM_002471.4(MYH6):c.569G>A (p.Arg190His)	LOC114827851, MYH6 (R190H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +6 more	GUncertain significance
Select item 513224	NM_002471.4(MYH6):c.531-19T>A	LOC114827851, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +1 more	GBenign/Likely benign
Select item 44504	NM_002471.4(MYH6):c.411G>A (p.Glu137=)	MYH6, LOC114827851	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 44500	NM_002471.4(MYH6):c.399G>A (p.Val133=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +4 more	GBenign
Select item 44481	NM_002471.4(MYH6):c.330G>A (p.Ala110=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +5 more	GBenign/Likely benign
Select item 44455	NM_002471.4(MYH6):c.166G>A (p.Gly56Arg)	LOC114827851, MYH6 (G56R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +3 more	GBenign
Select item 164258	NM_002471.4(MYH6):c.86G>A (p.Arg29Gln)	LOC114827851, MYH6 (R29Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GBenign
Select item 1297598	NM_002471.4(MYH6):c.43T>C (p.Tyr15His)	LOC114827851, MYH6 (Y15H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance