"Ambry Genetics"[submitter] AND "CASQ2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 513407	NM_001232.4(CASQ2):c.1188TGA[4] (p.Asp398dup)	CASQ2	Microsatellite (inframe_insertion)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1745994	NM_001232.4(CASQ2):c.1196A>C (p.Glu399Ala)	CASQ2 (E399A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 915516	NM_001232.4(CASQ2):c.1195G>A (p.Glu399Lys)	CASQ2 (E399K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 44159	NM_001232.4(CASQ2):c.1194T>C (p.Asp398=)	CASQ2, VANGL1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +7 more	GBenign/Likely benign
Select item 3221458	NM_001232.4(CASQ2):c.1192G>C (p.Asp398His)	CASQ2 (D398H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 238669	NM_001232.4(CASQ2):c.1188T>C (p.Asp396=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +3 more	GLikely benign
Select item 44158	NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del)	CASQ2 (D398del)	Deletion	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 191439	NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn)	CASQ2 (D396N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +5 more	GUncertain significance
Select item 44157	NM_001232.4(CASQ2):c.1185C>T (p.Asp395=)	CASQ2, VANGL1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 3137673	NM_001232.4(CASQ2):c.1184A>G (p.Asp395Gly)	CASQ2 (D395G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1736140	NM_001232.4(CASQ2):c.1159G>A (p.Glu387Lys)	CASQ2 (E387K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 179599	NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup)	CASQ2	Microsatellite (inframe_insertion)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 44155	NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del)	CASQ2 (D383del)	Microsatellite (inframe_deletion)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 44156	NM_001232.4(CASQ2):c.1148A>G (p.Asp383Gly)	CASQ2 (D383G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1731950	NM_001232.4(CASQ2):c.1143T>C (p.Asp381=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1728313	NM_001232.4(CASQ2):c.1131_1139del (p.Glu377_Asp379del)	CASQ2	Deletion (inframe_deletion +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3263467	NM_001232.4(CASQ2):c.1138G>C (p.Asp380His)	CASQ2 (D380H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1017701	NM_001232.4(CASQ2):c.1137T>G (p.Asp379Glu)	CASQ2 (D379E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 463658	NM_001232.4(CASQ2):c.1131_1133del (p.Glu377del)	CASQ2 (E377del)	Deletion (inframe_deletion)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 162809	NM_001232.4(CASQ2):c.1131A>T (p.Glu377Asp)	CASQ2 (E377D)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1035127	NM_001232.4(CASQ2):c.1097T>C (p.Leu366Pro)	CASQ2 (L366P)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GLikely pathogenic
Select item 1789773	NM_001232.4(CASQ2):c.1092T>C (p.Asp364=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1040687	NM_001232.4(CASQ2):c.1087G>A (p.Glu363Lys)	CASQ2 (E363K)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 2585691	NM_001232.4(CASQ2):c.1084A>C (p.Ile362Leu)	CASQ2 (I362L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 190748	NM_001232.4(CASQ2):c.1082G>C (p.Trp361Ser)	CASQ2 (W361S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +3 more	GUncertain significance
Select item 1100352	NM_001232.4(CASQ2):c.1074G>A (p.Leu358=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GLikely benign
Select item 1779358	NM_001232.4(CASQ2):c.1059A>C (p.Pro353=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1102735	NM_001232.4(CASQ2):c.1059A>T (p.Pro353=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GLikely benign
Select item 191441	NM_001232.4(CASQ2):c.1052A>G (p.Asp351Gly)	CASQ2 (D351G)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +4 more	GUncertain significance
Select item 2397657	NM_001232.4(CASQ2):c.1051G>A (p.Asp351Asn)	CASQ2 (D351N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1596743	NM_001232.4(CASQ2):c.1050C>T (p.Asp350=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1775584	NM_001232.4(CASQ2):c.1044TGA[1] (p.Asp351del)	CASQ2 (D351del)	Microsatellite (inframe_indel +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2565184	NM_001232.4(CASQ2):c.1047T>C (p.Asp349=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 408870	NM_001232.4(CASQ2):c.1046A>T (p.Asp349Val)	CASQ2 (D349V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 3263471	NM_001232.4(CASQ2):c.1035G>A (p.Glu345=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1303474	NM_001232.4(CASQ2):c.1031T>A (p.Met344Lys)	CASQ2 (M344K)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 1498700	NM_001232.4(CASQ2):c.1030A>T (p.Met344Leu)	CASQ2 (M344L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 2565185	NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter)	CASQ2 (W343*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GPathogenic
Select item 238668	NM_001232.4(CASQ2):c.1015-3C>T	CASQ2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1729766	NM_001232.4(CASQ2):c.1011A>G (p.Thr337=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GLikely benign
Select item 238667	NM_001232.4(CASQ2):c.1011A>T (p.Thr337=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GLikely benign
Select item 44152	NM_001232.4(CASQ2):c.1005T>C (p.Asn335=)	CASQ2, VANGL1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 1768800	NM_001232.4(CASQ2):c.997G>T (p.Val333Leu)	CASQ2 (V333L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1768497	NM_001232.4(CASQ2):c.988C>G (p.Gln330Glu)	CASQ2 (Q330E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 1952376	NM_001232.4(CASQ2):c.987A>G (p.Pro329=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GLikely benign
Select item 3221471	NM_001232.4(CASQ2):c.985C>A (p.Pro329Thr)	CASQ2 (P329T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 190747	NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser)	CASQ2 (P329S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GUncertain significance
Select item 1488299	NM_001232.4(CASQ2):c.979T>C (p.Phe327Leu)	CASQ2 (F327L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1055546	NM_001232.4(CASQ2):c.971T>C (p.Ile324Thr)	CASQ2 (I324T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 2450447	NM_001232.4(CASQ2):c.954G>C (p.Trp318Cys)	CASQ2 (W318C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 292128	NM_001232.4(CASQ2):c.943G>A (p.Val315Ile)	CASQ2 (V315I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +3 more	GUncertain significance
Select item 1455253	NM_001232.4(CASQ2):c.939+5G>C	CASQ2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GPathogenic/Likely pathogenic
Select item 519365	NM_001232.4(CASQ2):c.939+1G>T	CASQ2	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GPathogenic/Likely pathogenic
Select item 964529	NM_001232.4(CASQ2):c.933T>A (p.Phe311Leu)	CASQ2 (F311L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 1766596	NM_001232.4(CASQ2):c.932T>G (p.Phe311Cys)	CASQ2 (F311C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1766522	NM_001232.4(CASQ2):c.930C>T (p.Asp310=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 162810	NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn)	CASQ2 (D310N)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 1147911	NM_001232.4(CASQ2):c.927C>T (p.Asp309=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1766367	NM_001232.4(CASQ2):c.925del (p.Asp309fs)	CASQ2 (D309fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GPathogenic/Likely pathogenic
Select item 651120	NM_001232.4(CASQ2):c.924G>A (p.Pro308=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 190755	NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu)	CASQ2 (P308L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GPathogenic/Likely pathogenic
Select item 3221470	NM_001232.4(CASQ2):c.919G>A (p.Asp307Asn)	CASQ2 (D307N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1766098	NM_001232.4(CASQ2):c.918C>A (p.Ile306=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1589700	NM_001232.4(CASQ2):c.912G>A (p.Leu304=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 518768	NM_001232.4(CASQ2):c.898G>A (p.Asp300Asn)	CASQ2 (D300N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1155875	NM_001232.4(CASQ2):c.897C>T (p.Pro299=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 519436	NM_001232.4(CASQ2):c.893A>G (p.Asn298Ser)	CASQ2 (N298S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1492826	NM_001232.4(CASQ2):c.888T>C (p.Thr296=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1420129	NM_001232.4(CASQ2):c.878G>A (p.Arg293Gln)	CASQ2 (R293Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1764632	NM_001232.4(CASQ2):c.877C>A (p.Arg293=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1764592	NM_001232.4(CASQ2):c.876C>T (p.Ala292=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 228470	NM_001232.4(CASQ2):c.874G>T (p.Ala292Ser)	CASQ2 (A292S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1427813	NM_001232.4(CASQ2):c.862C>G (p.Leu288Val)	CASQ2 (L288V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 136657	NM_001232.4(CASQ2):c.861C>A (p.Ile287=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GBenign/Likely benign
Select item 574983	NM_001232.4(CASQ2):c.860T>A (p.Ile287Asn)	CASQ2 (I287N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 3137674	NM_001232.4(CASQ2):c.857A>T (p.Glu286Val)	CASQ2 (E286V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 292130	NM_001232.4(CASQ2):c.855G>C (p.Leu285=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GConflicting classifications of pathogenicity
Select item 3221469	NM_001232.4(CASQ2):c.847G>A (p.Glu283Lys)	CASQ2 (E283K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1762581	NM_001232.4(CASQ2):c.823G>C (p.Glu275Gln)	CASQ2 (E275Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1761929	NM_001232.4(CASQ2):c.808A>G (p.Ile270Val)	CASQ2 (I270V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1761925	NM_001232.4(CASQ2):c.808A>C (p.Ile270Leu)	CASQ2 (I270L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2450449	NM_001232.4(CASQ2):c.784G>A (p.Glu262Lys)	CASQ2 (E262K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2585692	NM_001232.4(CASQ2):c.776A>G (p.Glu259Gly)	CASQ2 (E259G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1760491	NM_001232.4(CASQ2):c.775G>C (p.Glu259Gln)	CASQ2 (E259Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 392826	NM_001232.4(CASQ2):c.774T>C (p.Phe258=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GBenign/Likely benign
Select item 162812	NM_001232.4(CASQ2):c.758G>A (p.Arg253His)	CASQ2 (R253H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 1284453	NM_001232.4(CASQ2):c.757C>T (p.Arg253Cys)	CASQ2 (R253C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 178880	NM_001232.4(CASQ2):c.757C>A (p.Arg253Ser)	CASQ2 (R253S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 1759417	NM_001232.4(CASQ2):c.753C>A (p.Arg251=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 191442	NM_001232.4(CASQ2):c.752G>A (p.Arg251His)	CASQ2 (R251H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 915584	NM_001232.4(CASQ2):c.751C>T (p.Arg251Cys)	CASQ2 (R251C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1759192	NM_001232.4(CASQ2):c.749G>A (p.Arg250His)	CASQ2 (R250H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1475828	NM_001232.4(CASQ2):c.749G>T (p.Arg250Leu)	CASQ2 (R250L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 572954	NM_001232.4(CASQ2):c.748C>T (p.Arg250Cys)	CASQ2 (R250C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1040988	NM_001232.4(CASQ2):c.740C>G (p.Pro247Arg)	CASQ2 (P247R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2318759	NM_001232.4(CASQ2):c.739C>T (p.Pro247Ser)	CASQ2 (P247S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1758619	NM_001232.4(CASQ2):c.738-13_738-5dup	CASQ2	Duplication (intron variant)	Cardiovascular phenotype	GLikely benign
Select item 238671	NM_001232.4(CASQ2):c.730_731inv (p.His244Cys)	CASQ2 (H244C)	Inversion (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GBenign/Likely benign
Select item 35772	NM_001232.4(CASQ2):c.731A>G (p.His244Arg)	CASQ2 (H244R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GBenign/Likely benign
Select item 227210	NM_001232.4(CASQ2):c.730C>T (p.His244Tyr)	CASQ2 (H244Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity

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