CASQ2[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1035127	NM_001232.4(CASQ2):c.1097T>C (p.Leu366Pro)	CASQ2 (L366P)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GLikely pathogenic
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 2565185	NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter)	CASQ2 (W343*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GPathogenic
Select item 190758	NM_001232.4(CASQ2):c.1017dup (p.Asp340Ter)	CASQ2 (D340*)	Duplication (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 1457736	NM_001232.4(CASQ2):c.1014+1G>A	CASQ2	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 1425730	NM_001232.4(CASQ2):c.988C>T (p.Gln330Ter)	CASQ2 (Q330*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 2988469	NM_001232.4(CASQ2):c.974_983del (p.Asp325fs)	CASQ2 (D325fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 228247	NM_001232.4(CASQ2):c.940-1G>T	CASQ2	Single nucleotide variant (splice acceptor variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GLikely pathogenic
Select item 1455253	NM_001232.4(CASQ2):c.939+5G>C	CASQ2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 2754358	NM_001232.4(CASQ2):c.939+1G>A	CASQ2	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely pathogenic
Select item 519365	NM_001232.4(CASQ2):c.939+1G>T	CASQ2	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GPathogenic/Likely pathogenic
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 190755	NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu)	CASQ2 (P308L)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 17610	NM_001232.4(CASQ2):c.919G>C (p.Asp307His)	CASQ2 (D307H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GPathogenic
Select item 651334	NM_001232.4(CASQ2):c.856G>T (p.Glu286Ter)	CASQ2 (E286*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 2794330	NM_001232.4(CASQ2):c.846C>A (p.Tyr282Ter)	CASQ2 (Y282*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 1523438	NM_001232.4(CASQ2):c.839-2A>G	CASQ2	Single nucleotide variant (splice acceptor variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely pathogenic
Select item 2914884	NM_001232.4(CASQ2):c.784-1G>A	CASQ2	Single nucleotide variant (splice acceptor variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely pathogenic
Select item 427947	NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter)	CASQ2 (W261*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GPathogenic/Likely pathogenic
Select item 2822271	NM_001232.4(CASQ2):c.781del (p.Trp261fs)	CASQ2 (W261fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 2770074	NM_001232.4(CASQ2):c.754del (p.Leu252fs)	CASQ2 (L252fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 1033372	NM_001232.4(CASQ2):c.737+2T>A	CASQ2	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GPathogenic
Select item 2202832	NM_001232.4(CASQ2):c.737+1G>A	CASQ2	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 2505552	NM_001232.4(CASQ2):c.736A>T (p.Arg246Ter)	CASQ2 (R246*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 2	GLikely pathogenic
Select item 859128	NM_001232.4(CASQ2):c.733C>T (p.Gln245Ter)	CASQ2 (Q245*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia	GPathogenic
Select item 1757434	NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter)	CASQ2 (E239*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GPathogenic
Select item 2438853	NM_001232.4(CASQ2):c.607-1G>A	CASQ2	Single nucleotide variant (splice acceptor variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GLikely pathogenic
Select item 3019374	NM_001232.4(CASQ2):c.607-11_607-2del	CASQ2	Deletion (splice acceptor variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely pathogenic
Select item 190743	NM_001232.4(CASQ2):c.606+1G>C	CASQ2	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 44169	NM_001232.4(CASQ2):c.578_580delinsAC (p.Ile193fs)	CASQ2 (I193fs)	Indel	Catecholaminergic polymorphic ventricular tachycardia	GLikely pathogenic
Select item 1367739	NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter)	CASQ2 (Y192*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GPathogenic/Likely pathogenic
Select item 222522	NM_001232.4(CASQ2):c.546del (p.Phe182fs)	CASQ2 (F182fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GPathogenic/Likely pathogenic
Select item 2865838	NM_001232.4(CASQ2):c.537C>A (p.Tyr179Ter)	CASQ2 (Y179*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 1746831	NM_001232.4(CASQ2):c.532+1G>A	CASQ2	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 17612	NM_001232.4(CASQ2):c.500T>A (p.Leu167His)	CASQ2 (L167H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GPathogenic
Select item 654552	NM_001232.4(CASQ2):c.475G>T (p.Glu159Ter)	CASQ2 (E159*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 942279	NM_001232.4(CASQ2):c.466C>T (p.Gln156Ter)	CASQ2 (Q156*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 2997913	NM_001232.4(CASQ2):c.420+1G>A	CASQ2	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely pathogenic
Select item 2744443	NM_001232.4(CASQ2):c.414_415del (p.Leu139fs)	CASQ2 (L139fs)	Microsatellite (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 801535	NM_001232.4(CASQ2):c.381C>T (p.Gly127=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 17611	NM_001232.4(CASQ2):c.339_354del (p.Ser113fs)	CASQ2 (S113fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 3236407	NM_001232.4(CASQ2):c.320-2A>G	CASQ2	Single nucleotide variant (splice acceptor variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GPathogenic
Select item 2089290	NM_001232.4(CASQ2):c.319+2T>G	CASQ2	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GLikely pathogenic
Select item 1515619	NM_001232.4(CASQ2):c.319+1G>C	CASQ2	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely pathogenic
Select item 1324014	NM_001232.4(CASQ2):c.319+1G>A	CASQ2	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GLikely pathogenic
Select item 2506578	NM_001232.4(CASQ2):c.268_269insTA (p.Gly90fs)	CASQ2 (G90fs)	Insertion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GLikely pathogenic
Select item 1793918	NM_001232.4(CASQ2):c.261dup (p.Ala88fs)	CASQ2 (A88fs)	Duplication (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 2914975	NM_001232.4(CASQ2):c.244C>T (p.Gln82Ter)	CASQ2 (Q82*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 408869	NM_001232.4(CASQ2):c.235-2A>G	CASQ2	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +3 more	GLikely pathogenic
Select item 190759	NM_001232.4(CASQ2):c.213del (p.Gln71fs)	CASQ2 (Q71fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GPathogenic/Likely pathogenic
Select item 2806492	NM_001232.4(CASQ2):c.205C>T (p.Gln69Ter)	CASQ2 (Q69*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 190754	NM_001232.4(CASQ2):c.204del (p.Lys68fs)	CASQ2 (K68fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1784131	NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter)	CASQ2 (Q67*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 427946	NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys)	CASQ2 (Y55C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GPathogenic/Likely pathogenic
Select item 488772	NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter)	CASQ2 (E39*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 862119	NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln)	CASQ2 (R33Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GPathogenic/Likely pathogenic
Select item 41043	NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter)	CASQ2 (R33*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GPathogenic/Likely pathogenic
Select item 68878	NM_001232.4(CASQ2):c.94G>A (p.Asp32Asn)	CASQ2 (D32N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 41042	NM_001232.4(CASQ2):c.62del (p.Glu21fs)	CASQ2 (E21fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GPathogenic
Select item 2704628	NM_001232.4(CASQ2):c.31del (p.Ile11fs)	CASQ2 (I11fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 2811031	NM_001232.4(CASQ2):c.3G>A (p.Met1Ile)	CASQ2 (M1I)	Single nucleotide variant (missense variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 452250	NM_001232.4(CASQ2):c.2T>C (p.Met1Thr)	CASQ2 (M1T)	Single nucleotide variant (missense variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GPathogenic/Likely pathogenic
Select item 1455404	NC_000001.10:g.(?_116269603)_(116269753_?)del	CASQ2	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic

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Items: 64