"Stanford Center for Inherited Cardiovascular Disease, Stanford Univer - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 43082	NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln)	MYH7 (E1902Q)	Single nucleotide variant (missense variant)	Cardiomyopathy	GLikely benign FDA Recognized database
Select item 14121	NM_000257.4(MYH7):c.5647G>A (p.Glu1883Lys)	MYH7 (E1883K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 43075	NM_000257.4(MYH7):c.5562G>A (p.Thr1854=)	MYH7	Single nucleotide variant (synonymous variant)	MYH7-related condition +4 more	GBenign/Likely benign
Select item 454391	NM_000257.4(MYH7):c.5560-7C>A	MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 164268	NM_000257.4(MYH7):c.5507C>T (p.Ser1836Leu)	MYH7 (S1836L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 217826	NM_000257.4(MYH7):c.5452C>T (p.Arg1818Trp)	MYH7 (R1818W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +9 more	GUncertain significance
Select item 181279	NM_000257.4(MYH7):c.5399C>T (p.Ala1800Val)	MYH7 (A1800V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 14123	NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro)	MYH7 (L1793P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 177892	NM_000257.4(MYH7):c.5344A>G (p.Met1782Val)	MYH7 (M1782V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 177629	NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly)	MYH7 (S1776G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 161323	NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met)	LOC126861897, MYH7 (L1769M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 43059	NM_000257.4(MYH7):c.5302G>A (p.Glu1768Lys)	LOC126861897, MYH7 (E1768K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
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 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 181262	NM_000257.4(MYH7):c.4679G>A (p.Arg1560Gln)	LOC126861897, MHRT +1 more (R1560Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 43029	NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter)	MHRT, MYH7 (R1530*)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance FDA Recognized database
Select item 235034	NM_000257.4(MYH7):c.4519+1G>C	MHRT, MYH7	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 164284	NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp)	MHRT, MYH7 (R1500W)	Single nucleotide variant (missense variant)	Cardiomyopathy +9 more	GPathogenic/Likely pathogenic
Select item 235033	NM_000257.4(MYH7):c.4402G>A (p.Glu1468Lys)	MHRT, MYH7 (E1468K)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
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 235032	NM_000257.4(MYH7):c.4363G>A (p.Glu1455Lys)	MHRT, MYH7 (E1455K)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 181244	NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys)	MYH7 (E1387K)	Single nucleotide variant (missense variant)	Myosin storage myopathy +7 more	GUncertain significance
Select item 42991	NM_000257.4(MYH7):c.4078G>A (p.Val1360Ile)	MYH7 (V1360I)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +9 more	GUncertain significance
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 208597	NM_000257.4(MYH7):c.4031G>A (p.Arg1344Gln)	MYH7 (R1344Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 42986	NM_000257.4(MYH7):c.3994G>A (p.Ala1332Thr)	MYH7 (A1332T)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +8 more	GUncertain significance
Select item 42985	NM_000257.4(MYH7):c.3982G>A (p.Ala1328Thr)	MYH7 (A1328T)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +9 more	GUncertain significance
Select item 36641	NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys)	MYH7 (N1327K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely benign FDA Recognized database
Select item 42958	NM_000257.4(MYH7):c.3637G>A (p.Val1213Met)	MYH7 (V1213M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 181226	NM_000257.4(MYH7):c.3551A>T (p.Gln1184Leu)	MYH7 (Q1184L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 181384	NM_000257.4(MYH7):c.3407G>A (p.Arg1136His)	MYH7 (R1136H)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 42941	NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)	MYH7 (M982T)	Single nucleotide variant (missense 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)	Myosin storage myopathy +10 more	GConflicting classifications of pathogenicity
Select item 181380	NM_000257.4(MYH7):c.2858A>T (p.Asp953Val)	MYH7 (D953V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 14092	NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)	MYH7 (E924K)	Single nucleotide variant (missense variant)	MYH7-related skeletal myopathy +11 more	GPathogenic/Likely pathogenic
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 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 235031	NM_000257.4(MYH7):c.2609G>T (p.Arg870Leu)	LOC126861898, MYH7 (R870L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GLikely pathogenic
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 161326	NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)	LOC126861898, MYH7 (R870C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 177847	NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro)	LOC126861898, MYH7 (A868P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 181195	NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu)	LOC126861898, MYH7 (K865E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 42917	NM_000257.4(MYH7):c.2570C>T (p.Thr857Ile)	LOC126861898, MYH7 (T857I)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +8 more	GUncertain significance
Select item 181374	NM_000257.4(MYH7):c.2544G>C (p.Glu848Asp)	LOC126861898, MYH7 (E848D)	Single nucleotide variant (missense variant)	not specified +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 235030	NM_000257.4(MYH7):c.2508C>G (p.Ile836Met)	LOC126861898, MYH7 (I836M)	Single nucleotide variant (missense variant)	MYH7-related skeletal myopathy +9 more	GUncertain significance
Select item 181192	NM_000257.4(MYH7):c.2497T>C (p.Tyr833His)	LOC126861898, MYH7 (Y833H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 235029	NM_000257.4(MYH7):c.2451C>A (p.Asn817Lys)	LOC126861898, MYH7 (N817K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 42901	NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	LOC126861898, MYH7 (A797T)	Single nucleotide variant (missense variant)	MYH7-related condition +19 more	GPathogenic/Likely pathogenic
Select item 42900	NM_000257.4(MYH7):c.2360G>A (p.Arg787His)	LOC126861898, MYH7 (R787H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely benign FDA Recognized database
Select item 164337	NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg)	LOC126861898, MYH7 (G768R)	Single nucleotide variant (missense variant)	Restrictive cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 177665	NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp)	MYH7 (G741W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 42890	NM_000257.4(MYH7):c.2221G>A (p.Gly741Arg)	MYH7 (G741R)	Single nucleotide variant (missense variant)	MYH7-related condition +4 more	GPathogenic/Likely pathogenic
Select item 181368	NM_000257.4(MYH7):c.2213G>C (p.Ser738Thr)	MYH7 (S738T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
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)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 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 407165	NM_000257.4(MYH7):c.2153T>G (p.Phe718Cys)	MYH7 (F718C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 181357	NM_000257.4(MYH7):c.2012G>A (p.Arg671His)	MYH7 (R671H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +2 more	GConflicting classifications of pathogenicity
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)	Congenital myopathy with fiber type disproportion +10 more	GPathogenic/Likely pathogenic
Select item 177626	NM_000257.4(MYH7):c.1954A>G (p.Arg652Gly)	MYH7 (R652G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic
Select item 235028	NM_000257.4(MYH7):c.1906G>A (p.Gly636Ser)	MYH7 (G636S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 635224	NM_000257.4(MYH7):c.1902C>T (p.Gly634=)	MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 235027	NM_000257.4(MYH7):c.1876G>A (p.Gly626Arg)	MYH7 (G626R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 14091	NM_000257.4(MYH7):c.1816G>A (p.Val606Met)	MYH7 (V606M)	Single nucleotide variant (missense variant)	Myosin storage myopathy +9 more	GPathogenic/Likely pathogenic
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 132925	NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)	MYH7 (E525K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +6 more	GPathogenic/Likely pathogenic
Select item 14124	NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp)	MYH7 (E497D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 181347	NM_000257.4(MYH7):c.1432A>G (p.Ile478Val)	MYH7 (I478V)	Single nucleotide variant (missense variant)	Myopathy, myosin storage, autosomal recessive +8 more	GUncertain significance
Select item 177921	NM_000257.4(MYH7):c.1405G>A (p.Asp469Asn)	MYH7 (D469N)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 235026	NM_000257.4(MYH7):c.1358G>T (p.Arg453Leu)	MYH7 (R453L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	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 177897	NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys)	MYH7 (R442C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 42834	NM_000257.4(MYH7):c.1273G>A (p.Gly425Arg)	MYH7 (G425R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 14101	NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu)	MYH7 (R403L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic
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 14102	NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)	MYH7 (R403W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 235025	NM_000257.4(MYH7):c.1204C>T (p.Pro402Ser)	MYH7 (P402S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 42822	NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln)	MYH7 (R369Q)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 164381	NM_000257.4(MYH7):c.1012G>A (p.Val338Met)	MYH7 (V338M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 393021	NM_000257.4(MYH7):c.1003G>C (p.Ala335Pro)	MYH7 (A335P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 181332	NM_000257.4(MYH7):c.969T>G (p.Ile323Met)	MYH7 (I323M)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
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 235035	NM_000257.4(MYH7):c.794C>A (p.Thr265Asn)	MYH7 (T265N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 181326	NM_000257.4(MYH7):c.789A>G (p.Ile263Met)	MYH7 (I263M)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 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 235037	NM_000257.4(MYH7):c.773T>C (p.Leu258Ser)	MYH7 (L258S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 635223	NM_000257.4(MYH7):c.746G>T (p.Arg249Leu)	MYH7 (R249L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 14088	NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)	MYH7 (R249Q)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +9 more	GPathogenic/Likely pathogenic
Select item 235036	NM_000257.4(MYH7):c.717C>G (p.Asp239Glu)	MYH7 (D239E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 43099	NM_000257.4(MYH7):c.710G>A (p.Arg237Gln)	MYH7 (R237Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 43098	NM_000257.4(MYH7):c.709C>T (p.Arg237Trp)	MYH7 (R237W)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 177858	NM_000257.4(MYH7):c.698C>T (p.Ala233Val)	MYH7 (A233V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance

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