"Center for Human Genetics, University of Leuven"[submitter] AND "MYH7 - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 427959	NM_000257.4(MYH7):c.5471A>G (p.Asn1824Ser)	MYH7 (N1824S)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 177846	NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr)	LOC126861897, MYH7 (A1763T)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 177788	NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln)	MYH7 (R1382Q)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 42958	NM_000257.4(MYH7):c.3637G>A (p.Val1213Met)	MYH7 (V1213M)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 42959	NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr)	MYH7 (A1128T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GLikely benign FDA Recognized database
Select item 42950	NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser)	MYH7 (G1057S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 181202	NM_000257.4(MYH7):c.2707G>A (p.Glu903Lys)	MYH7 (E903K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 14120	NM_000257.4(MYH7):c.2609G>A (p.Arg870His)	LOC126861898, MYH7 (R870H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 619264	NM_000257.4(MYH7):c.2576T>C (p.Leu859Pro)	LOC126861898, MYH7 (L859P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 164324	NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)	LOC126861898, MYH7 (R858C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +10 more	GPathogenic/Likely pathogenic
Select item 265252	NM_000257.4(MYH7):c.2334C>G (p.Asp778Glu)	LOC126861898, MYH7 (D778E)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely 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 14107	NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)	MYH7 (R719Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 619277	NM_000257.4(MYH7):c.2047G>C (p.Val683Leu)	MYH7 (V683L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 42875	NM_000257.4(MYH7):c.1988G>A (p.Arg663His)	MYH7 (R663H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 14091	NM_000257.4(MYH7):c.1816G>A (p.Val606Met)	MYH7 (V606M)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +9 more	GPathogenic/Likely pathogenic
Select item 177623	NM_000257.4(MYH7):c.1436A>G (p.Asn479Ser)	MYH7 (N479S)	Single nucleotide variant (missense variant)	MYH7-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 619263	NM_000257.4(MYH7):c.1400T>A (p.Ile467Asn)	MYH7 (I467N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic
Select item 14089	NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)	MYH7 (R453C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 181344	NM_000257.4(MYH7):c.1351C>G (p.Gln451Glu)	MYH7 (Q451E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 181343	NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser)	MYH7 (N444S)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 619262	NM_000257.4(MYH7):c.1325G>T (p.Arg442Leu)	MYH7 (R442L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 177897	NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys)	MYH7 (R442C)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 14087	NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln)	MYH7 (R403Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 181170	NM_000257.4(MYH7):c.1128C>A (p.Asp376Glu)	MYH7 (D376E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 43117	NM_000257.4(MYH7):c.976G>C (p.Ala326Pro)	MYH7 (A326P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +10 more	GUncertain significance
Select item 619261	NM_000257.4(MYH7):c.959T>A (p.Val320Glu)	MYH7 (V320E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 619260	NM_000257.4(MYH7):c.952A>C (p.Thr318Pro)	MYH7 (T318P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 43106	NM_000257.4(MYH7):c.788T>C (p.Ile263Thr)	MYH7 (I263T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 14088	NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)	MYH7 (R249Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +9 more	GPathogenic/Likely pathogenic

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Items: 30