"Blueprint Genetics"[submitter] AND "MYH7"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 181397	NM_000257.4(MYH7):c.5786C>T (p.Thr1929Met)	MYH7 (T1929M)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 222734	NM_000257.4(MYH7):c.5741_5744delinsT (p.Glu1914_Ser1915delinsVal)	MYH7	Indel (inframe_indel)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 636722	NM_000257.4(MYH7):c.5603T>C (p.Val1868Ala)	MYH7 (V1868A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 43075	NM_000257.4(MYH7):c.5562G>A (p.Thr1854=)	MYH7	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 161320	NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met)	MYH7 (T1854M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +4 more	GConflicting classifications of pathogenicity
Select item 312889	NM_000257.4(MYH7):c.5482G>A (p.Ala1828Thr)	MYH7 (A1828T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GUncertain significance
Select item 43069	NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys)	MYH7 (E1801K)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 181278	NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys)	MYH7 (E1799K)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance FDA Recognized database
Select item 177697	NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)	MYH7 (A1777T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance FDA Recognized database
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 180440	NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr)	LOC126861897, MYH7 (C1748Y)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S +8 more	GConflicting classifications of pathogenicity
Select item 36642	NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)	LOC126861897, MHRT +1 more (R1712Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 222731	NM_000257.4(MYH7):c.5071G>A (p.Val1691Met)	MHRT, LOC126861897 +1 more (V1691M)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +4 more	GUncertain significance
Select item 222730	NM_000257.4(MYH7):c.4901G>A (p.Arg1634His)	LOC126861897, MHRT +1 more (R1634H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +10 more	GUncertain significance
Select item 222729	NM_000257.4(MYH7):c.4717G>A (p.Glu1573Lys)	LOC126861897, MHRT +1 more (E1573K)	Single nucleotide variant (non-coding transcript variant +1 more)	MYH7-related disorder +7 more	GUncertain significance
Select item 222728	NM_000257.4(MYH7):c.4510A>T (p.Asn1504Tyr)	MHRT, MYH7 (N1504Y)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 180439	NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln)	MHRT, MYH7 (R1500Q)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance FDA Recognized database
Select item 43021	NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala)	MHRT, MYH7 (E1496A)	Single nucleotide variant (missense variant)	Myosin storage myopathy +4 more	GConflicting classifications of pathogenicity
Select item 181256	NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys)	MHRT, MYH7 (R1475C)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +9 more	GUncertain significance
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 636854	NM_000257.4(MYH7):c.4285A>T (p.Met1429Leu)	MHRT, MYH7 (M1429L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 164289	NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)	MHRT, MYH7 (L1428S)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 43004	NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln)	MYH7 (R1420Q)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
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 42993	NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr)	MYH7 (A1379T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 42992	NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)	MYH7 (T1377M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 164294	NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys)	MYH7 (E1356K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 222727	NM_000257.4(MYH7):c.3929A>C (p.Gln1310Pro)	MYH7 (Q1310P)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 222733	NM_000257.4(MYH7):c.3853+1G>A	MYH7	Single nucleotide variant (splice donor variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 636486	NM_000257.4(MYH7):c.3834C>T (p.Ala1278=)	MYH7	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 222726	NM_000257.4(MYH7):c.3830G>C (p.Arg1277Pro)	MYH7 (R1277P)	Single nucleotide variant (missense variant)	Myosin storage myopathy +4 more	GUncertain significance
Select item 42976	NM_000257.4(MYH7):c.3830G>A (p.Arg1277Gln)	MYH7 (R1277Q)	Single nucleotide variant (missense variant)	not provided +12 more	GUncertain significance
Select item 222725	NM_000257.4(MYH7):c.3622G>A (p.Asp1208Asn)	MYH7 (D1208N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 636462	NM_000257.4(MYH7):c.3404T>G (p.Leu1135Arg)	MYH7 (L1135R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 42956	NM_000257.4(MYH7):c.3337-4dup	MYH7	Duplication	Cardiomyopathy	GBenign FDA Recognized database
Select item 180110	NM_000257.4(MYH7):c.3245+3A>T	MYH7	Single nucleotide variant (intron variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 155814	NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln)	MYH7 (R1053Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 636633	NM_000257.4(MYH7):c.2822G>A (p.Arg941His)	MYH7 (R941H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 180438	NM_000257.4(MYH7):c.2785G>A (p.Glu929Lys)	MYH7 (E929K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 636549	NM_000257.4(MYH7):c.2765T>C (p.Met922Thr)	MYH7 (M922T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 14097	NM_000257.4(MYH7):c.2722C>G (p.Leu908Val)	MYH7 (L908V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 14125	NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)	MYH7 (D906G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 42926	NM_000257.4(MYH7):c.2711G>A (p.Arg904His)	MYH7 (R904H)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GPathogenic FDA Recognized database
Select item 164316	NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys)	MYH7 (R904C)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GPathogenic FDA Recognized database
Select item 42922	NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly)	MYH7 (E894G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 164319	NM_000257.4(MYH7):c.2678C>A (p.Ala893Glu)	LOC126861898, MYH7 (A893E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 222724	NM_000257.4(MYH7):c.2613G>T (p.Lys871Asn)	LOC126861898, MYH7 (K871N)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
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 177667	NM_000257.4(MYH7):c.2606G>A (p.Arg869His)	LOC126861898, MYH7 (R869H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 42914	NM_000257.4(MYH7):c.2546T>C (p.Met849Thr)	LOC126861898, MYH7 (M849T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GLikely pathogenic
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 636880	NM_000257.4(MYH7):c.2534G>A (p.Arg845Lys)	LOC126861898, MYH7 (R845K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 636527	NM_000257.4(MYH7):c.2470G>A (p.Val824Ile)	LOC126861898, MYH7 (V824I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 42901	NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	LOC126861898, MYH7 (A797T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +18 more	GPathogenic/Likely pathogenic
Select item 180437	NM_000257.4(MYH7):c.2348G>A (p.Arg783His)	LOC126861898, MYH7 (R783H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +5 more	GConflicting classifications of pathogenicity
Select item 42895	NM_000257.4(MYH7):c.2348G>C (p.Arg783Pro)	LOC126861898, MYH7 (R783P)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +1 more	GLikely pathogenic
Select item 188615	NM_000257.4(MYH7):c.2334C>A (p.Asp778Glu)	LOC126861898, MYH7 (D778E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GPathogenic
Select item 636474	NM_000257.4(MYH7):c.2293T>G (p.Phe765Val)	LOC126861898, MYH7 (F765V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 42889	NM_000257.4(MYH7):c.2206A>G (p.Ile736Val)	MYH7 (I736V)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
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 14095	NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)	MYH7 (R723C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 181175	NM_000257.4(MYH7):c.2163G>T (p.Arg721Ser)	MYH7 (R721S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 14104	NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp)	MYH7 (R719W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
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 42874	NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)	MYH7 (R663C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +10 more	GPathogenic/Likely pathogenic
Select item 636826	NM_000257.4(MYH7):c.1979C>A (p.Thr660Asn)	MYH7 (T660N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GLikely pathogenic
Select item 180441	NM_000257.4(MYH7):c.1888+1G>A	MYH7	Single nucleotide variant (splice donor variant)	Cardiomyopathy	GUncertain significance FDA Recognized database
Select item 636662	NM_000257.4(MYH7):c.1884delinsAC (p.Asp628fs)	MYH7 (D628fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 155813	NM_000257.4(MYH7):c.1856C>T (p.Thr619Ile)	MYH7 (T619I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 222723	NM_000257.4(MYH7):c.1820G>A (p.Gly607Asp)	MYH7 (G607D)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
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 42866	NM_000257.4(MYH7):c.1791C>A (p.Asn597Lys)	MYH7 (N597K)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 524995	NM_000257.4(MYH7):c.1772T>C (p.Ile591Thr)	MYH7 (I591T)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 42862	NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser)	MYH7 (G584S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic
Select item 177625	NM_000257.4(MYH7):c.1727A>G (p.His576Arg)	MYH7 (H576R)	Single nucleotide variant (missense variant)	Cardiomyopathy +9 more	GPathogenic/Likely pathogenic
Select item 519008	NM_000257.4(MYH7):c.1699C>T (p.Arg567Cys)	MYH7 (R567C)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 138395	NM_000257.4(MYH7):c.1632C>T (p.Thr544=)	MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 180436	NM_000257.4(MYH7):c.1627G>A (p.Ala543Thr)	MYH7 (A543T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 132925	NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)	MYH7 (E525K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +7 more	GPathogenic/Likely pathogenic
Select item 222722	NM_000257.4(MYH7):c.1396G>A (p.Glu466Lys)	MYH7 (E466K)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
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 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 180435	NM_000257.4(MYH7):c.1331A>C (p.Asn444Thr)	MYH7 (N444T)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GLikely pathogenic
Select item 181342	NM_000257.4(MYH7):c.1325G>A (p.Arg442His)	MYH7 (R442H)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
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 177948	NM_000257.4(MYH7):c.1315A>T (p.Met439Leu)	MYH7 (M439L)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 636965	NM_000257.4(MYH7):c.1258G>A (p.Val420Met)	MYH7 (V420M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 180434	NM_000257.4(MYH7):c.1193G>A (p.Gly398Glu)	MYH7 (G398E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 407200	NM_000257.4(MYH7):c.1182C>A (p.Asp394Glu)	MYH7 (D394E)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 222721	NM_000257.4(MYH7):c.1178C>T (p.Ala393Val)	MYH7 (A393V)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 636828	NM_000257.4(MYH7):c.1164G>A (p.Met388Ile)	MYH7 (M388I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 164379	NM_000257.4(MYH7):c.1106G>C (p.Arg369Pro)	MYH7 (R369P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 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 161328	NM_000257.4(MYH7):c.958G>A (p.Val320Met)	MYH7 (V320M)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 155812	NM_000257.4(MYH7):c.860A>G (p.Tyr287Cys)	MYH7 (Y287C)	Single nucleotide variant (missense variant)	Left ventricular noncompaction cardiomyopathy	GLikely pathogenic
Select item 180433	NM_000257.4(MYH7):c.793A>T (p.Thr265Ser)	MYH7 (T265S)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 181326	NM_000257.4(MYH7):c.789A>G (p.Ile263Met)	MYH7 (I263M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
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
Select item 222732	NM_000257.4(MYH7):c.733-3C>T	MYH7	Single nucleotide variant (intron variant)	MYH7-related skeletal myopathy +8 more	GConflicting classifications of pathogenicity

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