"Baylor Genetics"[submitter] AND "MYH6"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1032063	NM_002471.4(MYH6):c.5452G>C (p.Glu1818Gln)	MYH6 (E1818Q)	Single nucleotide variant (missense variant)	Atrial septal defect 3 +1 more	GUncertain significance
Select item 941989	NM_002471.4(MYH6):c.4750G>A (p.Glu1584Lys)	LOC126861896, MYH6 (E1584K)	Single nucleotide variant (missense variant)	Atrial septal defect 3 +3 more	GUncertain significance
Select item 239176	NM_002471.4(MYH6):c.4651-3C>A	LOC126861896, MYH6	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 518592	NM_002471.4(MYH6):c.4047C>A (p.Tyr1349Ter)	MYH6 (Y1349*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 2582542	NM_002471.4(MYH6):c.3946G>A (p.Asp1316Asn)	MYH6 (D1316N)	Single nucleotide variant (missense variant)	MYH6-related cardiac defects +2 more	GUncertain significance
Select item 407141	NM_002471.4(MYH6):c.3230A>T (p.Gln1077Leu)	MYH6 (Q1077L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 574886	NM_002471.4(MYH6):c.2615G>A (p.Arg872His)	MYH6 (R872H)	Single nucleotide variant (missense variant)	MYH6-related cardiac defects +5 more	GUncertain significance
Select item 36627	NM_002471.4(MYH6):c.1753G>A (p.Gly585Ser)	MYH6 (G585S)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GUncertain significance
Select item 1032061	NM_002471.4(MYH6):c.1578G>C (p.Glu526Asp)	MYH6 (E526D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1032060	NM_002471.4(MYH6):c.1482G>A (p.Met494Ile)	MYH6 (M494I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 1032059	NM_002471.4(MYH6):c.1411-12T>C	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +1 more	GConflicting classifications of pathogenicity
Select item 561059	NM_002471.4(MYH6):c.1410+1G>A	MYH6	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 14 +1 more	GPathogenic
Select item 1024279	NM_002471.4(MYH6):c.1088T>C (p.Met363Thr)	MYH6 (M363T)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 845371	NM_002471.4(MYH6):c.940G>A (p.Val314Met)	MYH6 (V314M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +4 more	GUncertain significance
Select item 656196	NM_002471.4(MYH6):c.864C>G (p.Tyr288Ter)	MYH6 (Y288*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 1032062	NM_002471.4(MYH6):c.493A>T (p.Met165Leu)	LOC114827851, MYH6 (M165L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +6 more	GUncertain significance
Select item 2441788	NM_002471.4(MYH6):c.478A>G (p.Asn160Asp)	LOC114827851, MYH6 (N160D)	Single nucleotide variant (missense variant)	Atrial septal defect 3 +2 more	GUncertain significance
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic