"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC114827 - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 470546	NM_002471.4(MYH6):c.546G>A (p.Ala182=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 519090	NM_002471.4(MYH6):c.492C>T (p.Tyr164=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2636664	NM_002471.4(MYH6):c.475G>A (p.Asp159Asn)	LOC114827851, MYH6 (D159N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 44507	NM_002471.4(MYH6):c.427C>A (p.Arg143=)	MYH6, LOC114827851	Single nucleotide variant (synonymous variant)	not provided +3 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 239173	NM_002471.4(MYH6):c.408C>T (p.Ala136=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 44495	NM_002471.4(MYH6):c.393G>A (p.Leu131=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign
Select item 2628720	NM_002471.4(MYH6):c.353C>A (p.Ser118Ter)	LOC114827851, MYH6 (S118*)	Single nucleotide variant (nonsense)	MYH6-related disorder	GUncertain significance
Select item 2447213	NM_002471.4(MYH6):c.341T>C (p.Ile114Thr)	LOC114827851, MYH6 (I114T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
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 414320	NM_002471.4(MYH6):c.210T>C (p.Thr70=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +4 more	GConflicting classifications of pathogenicity
Select item 258708	NM_002471.4(MYH6):c.201+16C>T	LOC114827851, MYH6	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 180421	NM_002471.4(MYH6):c.182C>T (p.Ala61Val)	LOC114827851, MYH6 (A61V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
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 3051095	NM_002471.4(MYH6):c.120C>T (p.Pro40=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	MYH6-related disorder	GLikely benign
Select item 164260	NM_002471.4(MYH6):c.70C>A (p.Leu24Ile)	LOC114827851, MYH6 (L24I)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 1055507	NM_002471.4(MYH6):c.50G>T (p.Arg17Leu)	LOC114827851, MYH6 (R17L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GUncertain significance
Select item 3030824	NM_002471.4(MYH6):c.43T>A (p.Tyr15Asn)	LOC114827851, MYH6 (Y15N)	Single nucleotide variant (missense variant)	MYH6-related disorder	GUncertain significance
Select item 312884	NM_002471.4(MYH6):c.-8G>A	MYH6, LOC114827851	Single nucleotide variant (5 prime UTR variant)	MYH6-related disorder +1 more	GBenign/Likely benign