"Institute of Human Genetics, University of Wuerzburg"[submitter] AND - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 689591	NM_000257.4(MYH7):c.5735T>A (p.Ile1912Asn)	MYH7 (I1912N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 291305	NM_000257.4(MYH7):c.5168TCA[1] (p.Ile1724del)	LOC126861897, MHRT +1 more (I1724del)	Microsatellite (non-coding transcript variant +1 more)	Distal muscle weakness	GLikely pathogenic
Select item 689588	NM_000257.4(MYH7):c.3866G>A (p.Arg1289Gln)	MYH7 (R1289Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +9 more	GUncertain significance
Select item 3022908	NM_000257.4(MYH7):c.3727-15T>A	MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3255554	NM_000257.4(MYH7):c.3727-17T>A	MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2	Gnot provided
Select item 3255555	NM_000257.4(MYH7):c.3727-21T>A	MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 2	Gnot provided
Select item 2663795	NM_000257.4(MYH7):c.3223C>G (p.Gln1075Glu)	MYH7 (Q1075E)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3255522	NM_000257.4(MYH7):c.3062C>G (p.Thr1021Ser)	MYH7 (T1021S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 3253622	NM_000257.4(MYH7):c.2693T>C (p.Leu898Pro)	MYH7 (L898P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 164342	NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr)	MYH7 (I736T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 1027658	NM_000257.4(MYH7):c.1572C>G (p.Ile524Met)	MYH7 (I524M)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 689594	NM_000257.4(MYH7):c.1565A>T (p.Asp522Val)	MYH7 (D522V)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 637005	NM_000257.4(MYH7):c.1000-1G>A	MYH7	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1693570	NM_000257.4(MYH7):c.732+14G>C	MYH7	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 689573	NM_000257.4(MYH7):c.674C>T (p.Pro225Leu)	MYH7 (P225L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2501805	NM_000257.4(MYH7):c.578A>G (p.Gln193Arg)	MYH7 (Q193R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3362244	NM_000257.4(MYH7):c.3112C>G (p.Leu1038Val)	MYH7 (L1038V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S	GUncertain significance