"Laboratory of Genetics and Molecular Cardiology, University of São Pa - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 217468	NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser)	MYH7 (G1808S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 217461	NM_000257.4(MYH7):c.4992C>A (p.Asn1664Lys)	LOC126861897, MHRT +1 more (N1664K)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy 1 +4 more	GConflicting classifications of pathogenicity
Select item 43039	NM_000257.4(MYH7):c.4817G>A (p.Arg1606His)	LOC126861897, MHRT +1 more (R1606H)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 217469	NM_000257.4(MYH7):c.4571A>G (p.His1524Arg)	MHRT, MYH7 (H1524R)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy 1 +2 more	GConflicting classifications of pathogenicity
Select item 43012	NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)	MHRT, MYH7 (K1459N)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GLikely benign FDA Recognized database
Select item 208597	NM_000257.4(MYH7):c.4031G>A (p.Arg1344Gln)	MYH7 (R1344Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +5 more	GConflicting classifications of pathogenicity
Select item 217463	NM_000257.4(MYH7):c.3645G>C (p.Gln1215His)	MYH7 (Q1215H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +3 more	GConflicting classifications of pathogenicity
Select item 217465	NM_000257.4(MYH7):c.3358G>A (p.Glu1120Lys)	MYH7 (E1120K)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 217467	NM_000257.4(MYH7):c.2893G>A (p.Glu965Lys)	MYH7 (E965K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 14092	NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)	MYH7 (E924K)	Single nucleotide variant (missense variant)	MYH7-related condition +11 more	GPathogenic/Likely pathogenic
Select item 217462	NM_000257.4(MYH7):c.2655T>A (p.Asn885Lys)	LOC126861898, MYH7 (N885K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +1 more	GConflicting classifications of pathogenicity
Select item 164324	NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)	LOC126861898, MYH7 (R858C)	Single nucleotide variant (missense variant)	not provided +10 more	GPathogenic/Likely pathogenic
Select item 42916	NM_000257.4(MYH7):c.2555T>C (p.Met852Thr)	LOC126861898, MYH7 (M852T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 217466	NM_000257.4(MYH7):c.2542_2544del (p.Glu848del)	LOC126861898, MYH7 (E848del)	Deletion (inframe_deletion)	Hypertrophic cardiomyopathy 1 +1 more	GConflicting classifications of pathogenicity
Select item 42913	NM_000257.4(MYH7):c.2539_2541del (p.Lys847del)	LOC126861898, MYH7 (K847del)	Deletion (inframe_deletion)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 217474	NM_000257.4(MYH7):c.2524A>G (p.Ser842Gly)	LOC126861898, MYH7 (S842G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GLikely pathogenic
Select item 42901	NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	LOC126861898, MYH7 (A797T)	Single nucleotide variant (missense variant)	Myosin storage myopathy +19 more	GPathogenic/Likely pathogenic
Select item 217473	NM_000257.4(MYH7):c.2291T>A (p.Phe764Tyr)	LOC126861898, MYH7 (F764Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 14098	NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg)	MYH7 (G741R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 217464	NM_000257.4(MYH7):c.2201A>C (p.Gln734Pro)	MYH7 (Q734P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 181176	NM_000257.4(MYH7):c.2191C>T (p.Pro731Ser)	MYH7 (P731S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 42885	NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly)	MYH7 (R723G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 217460	NM_000257.4(MYH7):c.2156G>C (p.Arg719Pro)	MYH7 (R719P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +1 more	GLikely pathogenic
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 14105	NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg)	MYH7 (G716R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 217470	NM_000257.4(MYH7):c.2104A>G (p.Ile702Val)	MYH7 (I702V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +2 more	GPathogenic/Likely pathogenic
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 14090	NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg)	MYH7 (G584R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 42848	NM_000257.4(MYH7):c.1532T>C (p.Ile511Thr)	MYH7 (I511T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +2 more	GConflicting classifications of pathogenicity
Select item 217471	NM_000257.4(MYH7):c.1479G>C (p.Met493Ile)	MYH7 (M493I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 42838	NM_000257.4(MYH7):c.1358G>A (p.Arg453His)	MYH7 (R453H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
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 42818	NM_000257.4(MYH7):c.1013T>C (p.Val338Ala)	MYH7 (V338A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 161328	NM_000257.4(MYH7):c.958G>A (p.Val320Met)	MYH7 (V320M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 43110	NM_000257.4(MYH7):c.872C>T (p.Ser291Phe)	MYH7 (S291F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
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 217472	NM_000257.4(MYH7):c.755T>G (p.Phe252Cys)	MYH7 (F252C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 14088	NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)	MYH7 (R249Q)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic/Likely pathogenic

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Items: 38