4633[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	ABTB3, ACACB +316 more	Copy number loss	See cases	GPathogenic
Select item 417460	NC_000012.12:g.(?_110910819)_(110911175_?)del	MYL2	Deletion	Hypertrophic cardiomyopathy 10	GPathogenic
Select item 883244	NM_000432.4(MYL2):c.*166G>A	MYL2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 1246380	NM_000432.4(MYL2):c.*127C>T	MYL2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1224073	NM_000432.4(MYL2):c.*117A>C	MYL2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 307211	NM_000432.4(MYL2):c.*102C>A	MYL2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 884050	NM_000432.4(MYL2):c.*84C>T	MYL2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 10 +1 more	GUncertain significance
Select item 1266458	NM_000432.4(MYL2):c.*53C>G	MYL2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1271053	NM_000432.4(MYL2):c.*29C>T	MYL2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1222563	NM_000432.4(MYL2):c.*18C>G	MYL2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 36647	NM_000432.4(MYL2):c.*10C>T	MYL2	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1214461	NM_000432.4(MYL2):c.*9T>C	MYL2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 918412	NM_000432.4(MYL2):c.*3G>A	MYL2	Single nucleotide variant (3 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 1536359	NM_000432.4(MYL2):c.501G>A (p.Ter167=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 1162324	NM_000432.4(MYL2):c.499T>C (p.Ter167Gln)	MYL2	Single nucleotide variant (stop lost)	Congenital myopathy with fiber type disproportion	GLikely pathogenic
Select item 1021584	NM_000432.4(MYL2):c.499T>G (p.Ter167Glu)	MYL2	Single nucleotide variant (stop lost)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 940358	NM_000432.4(MYL2):c.497A>C (p.Asp166Ala)	MYL2 (D166A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 31769	NM_000432.4(MYL2):c.497A>T (p.Asp166Val)	MYL2 (D166V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GLikely pathogenic
Select item 1502291	NM_000432.4(MYL2):c.496G>C (p.Asp166His)	MYL2 (D166H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 1023822	NM_000432.4(MYL2):c.496G>A (p.Asp166Asn)	MYL2 (D166N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 181436	NM_000432.4(MYL2):c.496G>T (p.Asp166Tyr)	MYL2 (D166Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1744203	NM_000432.4(MYL2):c.493_495del (p.Lys165del)	MYL2 (K165del +2 more)	Deletion (inframe_deletion +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 626788	NM_000432.4(MYL2):c.491_495del (p.Glu164fs)	MYL2 (E164fs)	Microsatellite (frameshift variant)	Cardiomyopathy	GLikely pathogenic
Select item 2002303	NM_000432.4(MYL2):c.493A>G (p.Lys165Glu)	MYL2 (K151E +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 1720074	NM_000432.4(MYL2):c.490G>A (p.Glu164Lys)	MYL2 (E145K +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 181421	NM_000432.4(MYL2):c.488A>G (p.Glu163Gly)	MYL2 (E163G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 43480	NM_000432.4(MYL2):c.488A>C (p.Glu163Ala)	MYL2 (E163A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +2 more	GConflicting classifications of pathogenicity
Select item 1804172	NM_000432.4(MYL2):c.485_487del (p.Gly162del)	MYL2 (G143del +2 more)	Deletion (inframe_deletion +1 more)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 1051330	NM_000432.4(MYL2):c.487G>A (p.Glu163Lys)	MYL2 (E163K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 431032	NM_000432.4(MYL2):c.487G>C (p.Glu163Gln)	MYL2 (E163Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2000385	NM_000432.4(MYL2):c.486A>T (p.Gly162=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 1387688	NM_000432.4(MYL2):c.486A>C (p.Gly162=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10 +1 more	GLikely benign
Select item 43479	NM_000432.4(MYL2):c.485G>A (p.Gly162Glu)	MYL2 (G162E)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GPathogenic/Likely pathogenic
Select item 1347212	NM_000432.4(MYL2):c.484G>T (p.Gly162Ter)	MYL2 (G162*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 132976	NM_000432.4(MYL2):c.484G>A (p.Gly162Arg)	MYL2 (G162R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 924599	NM_000432.4(MYL2):c.483C>T (p.His161=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 264266	NM_000432.4(MYL2):c.483C>A (p.His161Gln)	MYL2 (H161Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 164469	NM_000432.4(MYL2):c.482A>G (p.His161Arg)	MYL2 (H161R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 179705	NM_000432.4(MYL2):c.480C>T (p.Thr160=)	MYL2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2587157	NM_000432.4(MYL2):c.479C>A (p.Thr160Asn)	MYL2 (T141N +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 950065	NM_000432.4(MYL2):c.479C>G (p.Thr160Ser)	MYL2 (T160S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 582167	NM_000432.4(MYL2):c.473TCA[3] (p.Ile159dup)	MYL2	Microsatellite (inframe_insertion)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2279132	NM_000432.4(MYL2):c.476T>G (p.Ile159Ser)	MYL2 (I145S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1742964	NM_000432.4(MYL2):c.476T>C (p.Ile159Thr)	MYL2 (I159T +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +1 more	GUncertain significance
Select item 921552	NM_000432.4(MYL2):c.475A>G (p.Ile159Val)	MYL2 (I159V)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 924720	NM_000432.4(MYL2):c.474C>T (p.Ile158=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1202626	NM_000432.4(MYL2):c.473T>C (p.Ile158Thr)	MYL2 (I158T)	Single nucleotide variant (missense variant)	Congenital heart disease	GPathogenic
Select item 925736	NM_000432.4(MYL2):c.472A>G (p.Ile158Val)	MYL2 (I158V)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 181435	NM_000432.4(MYL2):c.470A>G (p.His157Arg)	MYL2 (H157R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 660510	NM_000432.4(MYL2):c.469C>T (p.His157Tyr)	MYL2 (H157Y)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 922438	NM_000432.4(MYL2):c.468G>A (p.Val156=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 749033	NM_000432.4(MYL2):c.465G>C (p.Leu155=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 1171794	NM_000432.4(MYL2):c.463C>T (p.Leu155=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 43478	NM_000432.4(MYL2):c.459G>C (p.Lys153Asn)	MYL2 (K153N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 263505	NM_000432.4(MYL2):c.456C>T (p.Tyr152=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 2442433	NM_000432.4(MYL2):c.455A>G (p.Tyr152Cys)	MYL2 (Y133C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581773	NM_000432.4(MYL2):c.454T>C (p.Tyr152His)	MYL2 (Y133H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1047494	NM_000432.4(MYL2):c.454T>G (p.Tyr152Asp)	MYL2 (Y152D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 925214	NM_000432.4(MYL2):c.450G>A (p.Leu150=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 925644	NM_000432.4(MYL2):c.449T>C (p.Leu150Ser)	MYL2 (L150S)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1740968	NM_000432.4(MYL2):c.448T>G (p.Leu150Val)	MYL2 (L150V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 43477	NM_000432.4(MYL2):c.447C>T (p.Asn149=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10 +2 more	GLikely benign
Select item 464146	NM_000432.4(MYL2):c.444C>T (p.Gly148=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1740546	NM_000432.4(MYL2):c.442G>A (p.Gly148Ser)	MYL2 (G148S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 919726	NM_000432.4(MYL2):c.441_442insTCACT (p.Gly148fs)	MYL2 (G148fs)	Insertion (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 920850	NM_000432.4(MYL2):c.438dup (p.Thr147fs)	MYL2 (T147fs)	Duplication (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 1740221	NM_000432.4(MYL2):c.438G>T (p.Val146=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2094680	NM_000432.4(MYL2):c.436G>C (p.Val146Leu)	MYL2 (V132L +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 520474	NM_000432.4(MYL2):c.436G>A (p.Val146Met)	MYL2 (V146M)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 760038	NM_000432.4(MYL2):c.435C>T (p.Asp145=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 626789	NM_000432.4(MYL2):c.435C>G (p.Asp145Glu)	MYL2 (D145E)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1018178	NM_000432.4(MYL2):c.434A>G (p.Asp145Gly)	MYL2 (D145G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 925339	NM_000432.4(MYL2):c.433G>T (p.Asp145Tyr)	MYL2 (D145Y)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 191733	NM_000432.4(MYL2):c.433G>A (p.Asp145Asn)	MYL2 (D145N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 1043372	NM_000432.4(MYL2):c.432del (p.Asp145fs)	MYL2 (D145fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 626790	NM_000432.4(MYL2):c.431_432del (p.Pro144fs)	MYL2 (P144fs)	Deletion (frameshift variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 2172098	NM_000432.4(MYL2):c.431C>T (p.Pro144Leu)	MYL2 (P130L +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 858912	NM_000432.4(MYL2):c.431C>A (p.Pro144His)	MYL2 (P144H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +1 more	GUncertain significance
Select item 837678	NM_000432.4(MYL2):c.431C>G (p.Pro144Arg)	MYL2 (P144R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 191580	NM_000432.4(MYL2):c.431del (p.Pro144fs)	MYL2 (P144fs)	Deletion (frameshift variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 919588	NM_000432.4(MYL2):c.430C>T (p.Pro144Ser)	MYL2 (P144S)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 628393	NM_000432.4(MYL2):c.430C>G (p.Pro144Ala)	MYL2 (P144A)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 409234	NM_000432.4(MYL2):c.430C>A (p.Pro144Thr)	MYL2 (P144T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 43476	NM_000432.4(MYL2):c.429C>G (p.Pro143=)	MYL2	Single nucleotide variant (synonymous variant)	MYL2-related condition +3 more	GLikely benign
Select item 177824	NM_000432.4(MYL2):c.428C>T (p.Pro143Leu)	MYL2 (P143L)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy +3 more	GUncertain significance
Select item 532776	NM_000432.4(MYL2):c.427C>A (p.Pro143Thr)	MYL2 (P143T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2887378	NM_000432.4(MYL2):c.426C>A (p.Phe142Leu)	MYL2 (F123L +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 1171773	NM_000432.4(MYL2):c.426C>T (p.Phe142=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1390290	NM_000432.4(MYL2):c.425T>C (p.Phe142Ser)	MYL2 (F142S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 2078669	NM_000432.4(MYL2):c.424T>A (p.Phe142Ile)	MYL2 (F123I +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 1172451	NM_000432.4(MYL2):c.424T>C (p.Phe142Leu)	MYL2 (F142L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 942919	NM_000432.4(MYL2):c.422C>A (p.Ala141Asp)	MYL2 (A141D)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 2672519	NM_000432.4(MYL2):c.421G>T (p.Ala141Ser)	MYL2 (A122S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 178948	NM_000432.4(MYL2):c.421G>A (p.Ala141Thr)	MYL2 (A141T)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2803761	NM_000432.4(MYL2):c.420C>A (p.Ala140=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 701398	NM_000432.4(MYL2):c.420C>T (p.Ala140=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 626791	NM_000432.4(MYL2):c.420C>G (p.Ala140=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 1917754	NM_000432.4(MYL2):c.419C>T (p.Ala140Val)	MYL2 (A140V +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 532774	NM_000432.4(MYL2):c.418G>A (p.Ala140Thr)	MYL2 (A140T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance

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