"Center for Advanced Laboratory Medicine, UC San Diego Health, Univers - ClinVar - NCBI

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

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 496160	NM_002471.4(MYH6):c.5642A>G (p.Lys1881Arg)	MYH6 (K1881R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 36631	NM_002471.4(MYH6):c.4959+13G>A	LOC126861896, MYH6	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 36630	NM_002471.4(MYH6):c.4651-12A>C	LOC126861896, MYH6	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +2 more	GBenign
Select item 178066	NM_002471.4(MYH6):c.4595G>T (p.Arg1532Leu)	MYH6 (R1532L)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 179022	NM_002471.4(MYH6):c.4293G>A (p.Met1431Ile)	MYH6 (M1431I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GBenign/Likely benign
Select item 191714	NM_002471.4(MYH6):c.3988G>A (p.Ala1330Thr)	MYH6 (A1330T)	Single nucleotide variant (missense variant)	Congestive heart failure +4 more	GConflicting classifications of pathogenicity
Select item 691732	NM_002471.4(MYH6):c.3979-2A>C	MYH6	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 44496	NM_002471.4(MYH6):c.3978+8C>T	MYH6	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 44492	NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln)	MYH6 (E1295Q)	Single nucleotide variant (missense variant)	Restrictive cardiomyopathy +6 more	GBenign/Likely benign
Select item 14151	NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)	MYH6 (A1004S)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 691661	NM_002471.4(MYH6):c.2957G>A (p.Gly986Glu)	MYH6 (G986E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 44467	NM_002471.4(MYH6):c.2579G>A (p.Arg860His)	MYH6 (R860H)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 691662	NM_002471.4(MYH6):c.1399G>T (p.Glu467Ter)	MYH6 (E467*)	Single nucleotide variant (nonsense)	Cardiomyopathy	GLikely pathogenic
Select item 44449	NM_002471.4(MYH6):c.1252G>A (p.Val418Met)	MYH6 (V418M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 44448	NM_002471.4(MYH6):c.1131C>G (p.Asp377Glu)	MYH6 (D377E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 44541	NM_002471.4(MYH6):c.622G>A (p.Asp208Asn)	LOC114827851, MYH6 (D208N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 164258	NM_002471.4(MYH6):c.86G>A (p.Arg29Gln)	LOC114827851, MYH6 (R29Q)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign