CASQ2[Gene Name] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129931064, LOC129931065 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 292075	NM_138959.3(VANGL1):c.*4478C>T	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +2 more	GBenign/Likely benign
Select item 292076	NM_138959.3(VANGL1):c.*4504C>T	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +2 more	GBenign/Likely benign
Select item 292084	NM_138959.3(VANGL1):c.*5266C>T	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +2 more	GBenign/Likely benign
Select item 292088	NM_138959.3(VANGL1):c.*5368G>A	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +2 more	GBenign/Likely benign
Select item 292093	NM_138959.3(VANGL1):c.*5633T>G	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +2 more	GBenign/Likely benign
Select item 292095	NM_138959.3(VANGL1):c.*5751A>G	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +2 more	GBenign/Likely benign
Select item 292097	NM_138959.3(VANGL1):c.*5841A>T	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +2 more	GBenign/Likely benign
Select item 292101	NM_138959.3(VANGL1):c.*5995A>T	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GBenign/Likely benign
Select item 292102	NM_138959.3(VANGL1):c.*6026G>A	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +2 more	GBenign/Likely benign
Select item 292105	NM_138959.3(VANGL1):c.*6199A>T	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +2 more	GBenign/Likely benign
Select item 292106	NM_138959.3(VANGL1):c.*6212C>T	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +2 more	GBenign/Likely benign
Select item 292107	NM_138959.3(VANGL1):c.*6321T>G	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GBenign/Likely benign
Select item 292112	NM_138959.3(VANGL1):c.*6721A>G	VANGL1, CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GBenign/Likely benign
Select item 292113	NM_138959.3(VANGL1):c.*6763dup	CASQ2, VANGL1	Duplication (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GLikely benign
Select item 874142	NM_001232.4(CASQ2):c.*1207A>G	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GUncertain significance
Select item 292114	NM_001232.4(CASQ2):c.*1183CTAA[1]	CASQ2	Microsatellite (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 292115	NM_001232.4(CASQ2):c.1123_1124del	CASQ2, VANGL1	Deletion (3 prime UTR variant)	Neural tube defect +2 more	GLikely benign
Select item 292116	NM_001232.4(CASQ2):c.*1052A>G	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GUncertain significance
Select item 874143	NM_001232.4(CASQ2):c.*1023A>G	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GUncertain significance
Select item 292117	NM_001232.4(CASQ2):c.*1017dup	CASQ2	Duplication (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 292118	NM_001232.4(CASQ2):c.*1017del	CASQ2, VANGL1	Deletion (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GLikely benign
Select item 292119	NM_001232.4(CASQ2):c.*929C>T	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GUncertain significance
Select item 875070	NM_001232.4(CASQ2):c.*655C>T	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GUncertain significance
Select item 875071	NM_001232.4(CASQ2):c.*636G>C	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GUncertain significance
Select item 292120	NM_001232.4(CASQ2):c.*632G>C	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +3 more	GBenign/Likely benign
Select item 875072	NM_001232.4(CASQ2):c.*574T>C	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GUncertain significance
Select item 292121	NM_001232.4(CASQ2):c.*503G>A	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 292122	NM_001232.4(CASQ2):c.*482C>T	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +3 more	GBenign/Likely benign
Select item 292123	NM_001232.4(CASQ2):c.*457C>T	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 876003	NM_001232.4(CASQ2):c.*332A>T	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GUncertain significance
Select item 876004	NM_001232.4(CASQ2):c.*175T>G	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GConflicting classifications of pathogenicity
Select item 368821	NM_001232.4(CASQ2):c.*143G>A	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GBenign/Likely benign
Select item 292124	NM_001232.4(CASQ2):c.*138T>C	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +4 more	GBenign/Likely benign
Select item 876985	NM_001232.4(CASQ2):c.*38G>A	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GUncertain significance
Select item 1160497	NM_001232.4(CASQ2):c.1197A>G (p.Glu399=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
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 190752	NM_001232.4(CASQ2):c.1188TGA[2] (p.Asp398del)	CASQ2 (D398del)	Microsatellite (inframe_deletion)	not specified	GLikely benign
Select item 915516	NM_001232.4(CASQ2):c.1195G>A (p.Glu399Lys)	CASQ2 (E399K)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 44159	NM_001232.4(CASQ2):c.1194T>C (p.Asp398=)	VANGL1, CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 1016604	NM_001232.4(CASQ2):c.1192G>A (p.Asp398Asn)	CASQ2 (D398N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2200857	NM_001232.4(CASQ2):c.1191T>C (p.Asp397=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 940147	NM_001232.4(CASQ2):c.1188T>A (p.Asp396Glu)	CASQ2 (D396E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 238669	NM_001232.4(CASQ2):c.1188T>C (p.Asp396=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 2051648	NM_001232.4(CASQ2):c.1187A>T (p.Asp396Val)	CASQ2 (D396V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
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)	Progressive familial heart block +5 more	GUncertain significance
Select item 191440	NM_001232.4(CASQ2):c.1179TGA[3] (p.Asp398dup)	CASQ2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 190739	NM_001232.4(CASQ2):c.1185del (p.Asp395fs)	CASQ2 (D395fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 44157	NM_001232.4(CASQ2):c.1185C>T (p.Asp395=)	VANGL1, CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 2878889	NM_001232.4(CASQ2):c.1176C>T (p.Asp392=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2961851	NM_001232.4(CASQ2):c.1173T>C (p.Asp391=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 643779	NM_001232.4(CASQ2):c.1168A>G (p.Asn390Asp)	CASQ2 (N390D)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 697243	NM_001232.4(CASQ2):c.1167T>C (p.Asp389=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 876986	NM_001232.4(CASQ2):c.1165G>T (p.Asp389Tyr)	CASQ2 (D389Y)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2	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 463659	NM_001232.4(CASQ2):c.1150A>G (p.Asn384Asp)	CASQ2 (N384D)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 179599	NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup)	CASQ2	Microsatellite (inframe_insertion)	Catecholaminergic polymorphic ventricular tachycardia 2 +5 more	GConflicting classifications of pathogenicity
Select item 2160236	NM_001232.4(CASQ2):c.1132GAT[4] (p.Asp382_Asp383del)	CASQ2	Microsatellite (inframe_deletion)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 1480642	NM_001232.4(CASQ2):c.1149T>A (p.Asp383Glu)	CASQ2 (D383E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 44155	NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del)	CASQ2 (D383del)	Microsatellite (inframe_deletion)	Catecholaminergic polymorphic ventricular tachycardia 2 +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)	not specified +2 more	GUncertain significance
Select item 1907864	NM_001232.4(CASQ2):c.1146T>C (p.Asp382=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 1731950	NM_001232.4(CASQ2):c.1143T>C (p.Asp381=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1005640	NM_001232.4(CASQ2):c.1119AGATGATGATGA[1] (p.373EDDD[1])	CASQ2	Microsatellite (inframe_deletion)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2147357	NM_001232.4(CASQ2):c.1140T>C (p.Asp380=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 1728313	NM_001232.4(CASQ2):c.1131_1139del (p.Glu377_Asp379del)	CASQ2	Deletion (inframe_indel +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1017701	NM_001232.4(CASQ2):c.1137T>G (p.Asp379Glu)	CASQ2 (D379E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 1034524	NM_001232.4(CASQ2):c.1136A>T (p.Asp379Val)	CASQ2 (D379V)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 227209	NM_001232.4(CASQ2):c.1134T>A (p.Asp378Glu)	CASQ2 (D378E)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 463658	NM_001232.4(CASQ2):c.1131_1133del (p.Glu377del)	CASQ2 (E377del)	Deletion (inframe_deletion)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 2737551	NM_001232.4(CASQ2):c.1131A>G (p.Glu377=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
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 520464	NM_001232.4(CASQ2):c.1122TGA[2] (p.Asp376del)	CASQ2 (D376del)	Microsatellite (inframe_deletion)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 190756	NM_001232.4(CASQ2):c.1127A>G (p.Asp376Gly)	CASQ2 (D376G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 532349	NM_001232.4(CASQ2):c.1121A>G (p.Asp374Gly)	CASQ2 (D374G)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 292125	NM_001232.4(CASQ2):c.1121A>T (p.Asp374Val)	CASQ2 (D374V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GUncertain significance
Select item 292126	NM_001232.4(CASQ2):c.1120G>A (p.Asp374Asn)	CASQ2 (D374N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GUncertain significance
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 44154	NM_001232.4(CASQ2):c.1090dup (p.Asp364fs)	CASQ2 (D364fs)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 1040687	NM_001232.4(CASQ2):c.1087G>A (p.Glu363Lys)	CASQ2 (E363K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 633143	NM_001232.4(CASQ2):c.1085T>C (p.Ile362Thr)	CASQ2 (I362T)	Single nucleotide variant (missense variant)	not specified	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 2574853	NM_001232.4(CASQ2):c.1083G>A (p.Trp361Ter)	CASQ2 (W361*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2717451	NM_001232.4(CASQ2):c.1082G>A (p.Trp361Ter)	CASQ2 (W361*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 190748	NM_001232.4(CASQ2):c.1082G>C (p.Trp361Ser)	CASQ2 (W361S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1387985	NM_001232.4(CASQ2):c.1081T>A (p.Trp361Arg)	CASQ2 (W361R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 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	GLikely benign
Select item 2970974	NM_001232.4(CASQ2):c.1072C>T (p.Leu358=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 1779358	NM_001232.4(CASQ2):c.1059A>C (p.Pro353=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +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)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 2397657	NM_001232.4(CASQ2):c.1051G>A (p.Asp351Asn)	CASQ2 (D351N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1596743	NM_001232.4(CASQ2):c.1050C>T (p.Asp350=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +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)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance

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