"Athena Diagnostics"[submitter] AND "MYH7"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 454392	NM_000257.4(MYH7):c.5730G>A (p.Ala1910=)	MYH7	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 43065	NM_000257.4(MYH7):c.5361A>G (p.Glu1787=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 1327794	NM_000257.4(MYH7):c.5020G>T (p.Val1674Leu)	LOC126861897, MHRT +1 more (V1674L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 43035	NM_000257.4(MYH7):c.4788G>A (p.Ser1596=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 43020	NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys)	MHRT, MYH7 (S1491C)	Single nucleotide variant (missense variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 43019	NM_000257.4(MYH7):c.4452C>T (p.Leu1484=)	MHRT, MYH7	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 43010	NM_000257.4(MYH7):c.4353+10G>A	MHRT, MYH7	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 453109	NM_000257.4(MYH7):c.4294G>A (p.Val1432Ile)	MHRT, MYH7 (V1432I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +10 more	GUncertain significance
Select item 43001	NM_000257.4(MYH7):c.4239G>A (p.Ser1413=)	MYH7	Single nucleotide variant (synonymous variant)	not provided +10 more	GBenign/Likely benign
Select item 42977	NM_000257.4(MYH7):c.3853+7C>T	MYH7	Single nucleotide variant (intron variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 42946	NM_000257.4(MYH7):c.3153G>A (p.Ala1051=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 42938	NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)	MYH7 (V964L)	Single nucleotide variant (missense variant)	Cardiomyopathy +10 more	GConflicting classifications of pathogenicity
Select item 42896	NM_000257.4(MYH7):c.2349C>T (p.Arg783=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy +9 more	GBenign/Likely benign
Select item 42884	NM_000257.4(MYH7):c.2162+4G>A	MYH7	Single nucleotide variant (intron variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 42864	NM_000257.4(MYH7):c.1767C>T (p.Asn589=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 42817	NM_000257.4(MYH7):c.1002C>T (p.Asn334=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 43116	NM_000257.4(MYH7):c.975C>T (p.Asp325=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 177865	NM_000257.4(MYH7):c.930T>C (p.Tyr310=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 138387	NM_000257.4(MYH7):c.240C>T (p.Asn80=)	MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 37375	NM_000257.4(MYH7):c.77C>T (p.Ala26Val)	MYH7 (A26V)	Single nucleotide variant (missense variant)	Cardiomyopathy	GBenign FDA Recognized database

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Items: 20