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

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Items: 44

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 10351271.	NM_001232.4(CASQ2):c.1097T>C (p.Leu366Pro) GRCh37: Chr1:116243965 GRCh38: Chr1:115701344	CASQ2	L366P	Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1907582.	NM_001232.4(CASQ2):c.1017dup (p.Asp340Ter) GRCh37: Chr1:116244044-116244045 GRCh38: Chr1:115701423-115701424	CASQ2	D340*	Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 14577363.	NM_001232.4(CASQ2):c.1014+1G>A GRCh37: Chr1:116245541 GRCh38: Chr1:115702920	CASQ2		Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Jul 13, 2021)	criteria provided, single submitter
Select item 14257304.	NM_001232.4(CASQ2):c.988C>T (p.Gln330Ter) GRCh37: Chr1:116245568 GRCh38: Chr1:115702947	CASQ2	Q330*	Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Apr 24, 2022)	criteria provided, single submitter
Select item 2282475.	NM_001232.4(CASQ2):c.940-1G>T GRCh37: Chr1:116245617 GRCh38: Chr1:115702996	CASQ2		Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia	Likely pathogenic (May 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14552536.	NM_001232.4(CASQ2):c.939+5G>C GRCh37: Chr1:116247808 GRCh38: Chr1:115705187	CASQ2		Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype	Pathogenic/Likely pathogenic (Mar 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5193657.	NM_001232.4(CASQ2):c.939+1G>T GRCh37: Chr1:116247812 GRCh38: Chr1:115705191	CASQ2		Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 2, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1, not provided	Pathogenic/Likely pathogenic (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17663678.	NM_001232.4(CASQ2):c.925del (p.Asp309fs) GRCh37: Chr1:116247827 GRCh38: Chr1:115705206	CASQ2	D309fs	Cardiovascular phenotype	Likely pathogenic (Jun 30, 2021)	criteria provided, single submitter
Select item 1907559.	NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu) GRCh37: Chr1:116247829 GRCh38: Chr1:115705208	CASQ2	P308L	Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, not provided, Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic/Likely pathogenic (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1761010.	NM_001232.4(CASQ2):c.919G>C (p.Asp307His) GRCh37: Chr1:116247833 GRCh38: Chr1:115705212	CASQ2	D307H	Catecholaminergic polymorphic ventricular tachycardia 2	Pathogenic (Dec 1, 2001)	no assertion criteria provided
Select item 65133411.	NM_001232.4(CASQ2):c.856G>T (p.Glu286Ter) GRCh37: Chr1:116247896 GRCh38: Chr1:115705275	CASQ2	E286*	Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Mar 1, 2022)	criteria provided, single submitter
Select item 152343812.	NM_001232.4(CASQ2):c.839-2A>G GRCh37: Chr1:116247915 GRCh38: Chr1:115705294	CASQ2		Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Oct 28, 2021)	criteria provided, single submitter
Select item 42794713.	NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter) GRCh37: Chr1:116268129 GRCh38: Chr1:115725508	CASQ2	W261*	Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic/Likely pathogenic (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103337214.	NM_001232.4(CASQ2):c.737+2T>A GRCh37: Chr1:116269611 GRCh38: Chr1:115726990	CASQ2		Catecholaminergic polymorphic ventricular tachycardia 2	Pathogenic (Apr 20, 2018)	criteria provided, single submitter
Select item 220283215.	NM_001232.4(CASQ2):c.737+1G>A GRCh37: Chr1:116269612 GRCh38: Chr1:115726991	CASQ2		Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Feb 4, 2022)	criteria provided, single submitter
Select item 85912816.	NM_001232.4(CASQ2):c.733C>T (p.Gln245Ter) GRCh37: Chr1:116269617 GRCh38: Chr1:115726996	CASQ2	Q245*	Catecholaminergic polymorphic ventricular tachycardia	Pathogenic (Jan 3, 2019)	criteria provided, single submitter
Select item 175743417.	NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter) GRCh37: Chr1:116269635 GRCh38: Chr1:115727014	CASQ2	E239*	Cardiovascular phenotype	Pathogenic (Oct 8, 2018)	criteria provided, single submitter
Select item 243885318.	NM_001232.4(CASQ2):c.607-1G>A GRCh37: Chr1:116269744 GRCh38: Chr1:115727123	CASQ2		Catecholaminergic polymorphic ventricular tachycardia 2	Likely pathogenic (Nov 15, 2021)	criteria provided, single submitter
Select item 19074319.	NM_001232.4(CASQ2):c.606+1G>C GRCh37: Chr1:116275521 GRCh38: Chr1:115732900	CASQ2		Catecholaminergic polymorphic ventricular tachycardia 1, not provided	Pathogenic/Likely pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4416920.	NM_001232.4(CASQ2):c.578_580delinsAC (p.Ile193fs) GRCh37: Chr1:116275548-116275550 GRCh38: Chr1:115732927-115732929	CASQ2	I193fs	Catecholaminergic polymorphic ventricular tachycardia	Likely pathogenic (Oct 3, 2012)	criteria provided, single submitter
Select item 136773921.	NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter) GRCh37: Chr1:116275552 GRCh38: Chr1:115732931	CASQ2	Y192*	Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic/Likely pathogenic (Sep 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 22252222.	NM_001232.4(CASQ2):c.546del (p.Phe182fs) GRCh37: Chr1:116275582 GRCh38: Chr1:115732961	CASQ2	F182fs	Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic/Likely pathogenic (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174683123.	NM_001232.4(CASQ2):c.532+1G>A GRCh37: Chr1:116280844 GRCh38: Chr1:115738223	CASQ2		Cardiovascular phenotype	Likely pathogenic (Sep 9, 2016)	criteria provided, single submitter
Select item 1761224.	NM_001232.4(CASQ2):c.500T>A (p.Leu167His) GRCh37: Chr1:116280877 GRCh38: Chr1:115738256	CASQ2	L167H	Catecholaminergic polymorphic ventricular tachycardia 2	Pathogenic (Sep 5, 2006)	no assertion criteria provided
Select item 65455225.	NM_001232.4(CASQ2):c.475G>T (p.Glu159Ter) GRCh37: Chr1:116280902 GRCh38: Chr1:115738281	CASQ2	E159*	Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Feb 9, 2021)	criteria provided, single submitter
Select item 94227926.	NM_001232.4(CASQ2):c.466C>T (p.Gln156Ter) GRCh37: Chr1:116280911 GRCh38: Chr1:115738290	CASQ2	Q156*	Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Sep 23, 2019)	criteria provided, single submitter
Select item 80153527.	NM_001232.4(CASQ2):c.381C>T (p.Gly127=) GRCh37: Chr1:116283388 GRCh38: Chr1:115740767	CASQ2		Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 2	Pathogenic/Likely pathogenic (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1761128.	NM_001232.4(CASQ2):c.339_354del (p.Ser113fs) GRCh37: Chr1:116283415-116283430 GRCh38: Chr1:115740794-115740809	CASQ2	S113fs	not provided, Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Dec 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 208929029.	NM_001232.4(CASQ2):c.319+2T>G GRCh37: Chr1:116287447 GRCh38: Chr1:115744826	CASQ2		Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Jan 23, 2022)	criteria provided, single submitter
Select item 151561930.	NM_001232.4(CASQ2):c.319+1G>C GRCh37: Chr1:116287448 GRCh38: Chr1:115744827	CASQ2		Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Mar 23, 2022)	criteria provided, single submitter
Select item 132401431.	NM_001232.4(CASQ2):c.319+1G>A GRCh37: Chr1:116287448 GRCh38: Chr1:115744827	CASQ2		Catecholaminergic polymorphic ventricular tachycardia 2	Likely pathogenic (Apr 12, 2021)	criteria provided, single submitter
Select item 179391832.	NM_001232.4(CASQ2):c.261dup (p.Ala88fs) GRCh37: Chr1:116287506-116287507 GRCh38: Chr1:115744885-115744886	CASQ2	A88fs	Cardiovascular phenotype	Pathogenic (Mar 27, 2017)	criteria provided, single submitter
Select item 40886933.	NM_001232.4(CASQ2):c.235-2A>G GRCh37: Chr1:116287535 GRCh38: Chr1:115744914	CASQ2		not provided, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype	Likely pathogenic (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19075934.	NM_001232.4(CASQ2):c.213del (p.Gln71fs) GRCh37: Chr1:116310950 GRCh38: Chr1:115768329	CASQ2	Q71fs	Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 2, not provided	Pathogenic/Likely pathogenic (Aug 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 19075435.	NM_001232.4(CASQ2):c.204del (p.Lys68fs) GRCh37: Chr1:116310959 GRCh38: Chr1:115768338	CASQ2	K68fs	not provided	Pathogenic (Mar 25, 2014)	criteria provided, single submitter
Select item 178413136.	NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter) GRCh37: Chr1:116310964 GRCh38: Chr1:115768343	CASQ2	Q67*	Cardiovascular phenotype	Likely pathogenic (Sep 9, 2016)	criteria provided, single submitter
Select item 42794637.	NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys) GRCh37: Chr1:116310999 GRCh38: Chr1:115768378	CASQ2	Y55C	Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Jul 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 48877238.	NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter) GRCh37: Chr1:116311048 GRCh38: Chr1:115768427	CASQ2	E39*	Catecholaminergic polymorphic ventricular tachycardia 1, not provided	Pathogenic/Likely pathogenic (Jan 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86211939.	NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln) GRCh37: Chr1:116311065 GRCh38: Chr1:115768444	CASQ2	R33Q	Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic/Likely pathogenic (Dec 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4104340.	NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter) GRCh37: Chr1:116311066 GRCh38: Chr1:115768445	CASQ2	R33*	Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1, not provided, Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic/Likely pathogenic (Jun 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6887841.	NM_001232.4(CASQ2):c.94G>A (p.Asp32Asn) GRCh37: Chr1:116311069 GRCh38: Chr1:115768448	CASQ2	D32N	not provided	Likely pathogenic (Aug 20, 2014)	criteria provided, single submitter
Select item 4104242.	NM_001232.4(CASQ2):c.62del (p.Glu21fs) GRCh37: Chr1:116311101 GRCh38: Chr1:115768480	CASQ2	E21fs	Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 2	Pathogenic (Dec 23, 2021)	criteria provided, single submitter
Select item 45225043.	NM_001232.4(CASQ2):c.2T>C (p.Met1Thr) GRCh37: Chr1:116311161 GRCh38: Chr1:115768540	CASQ2	M1T	not provided	Likely pathogenic (Sep 25, 2017)	criteria provided, single submitter
Select item 145540444.	NC_000001.10:g.(?_116269603)_(116269753_?)del GRCh37: Chr1:116269603-116269753	CASQ2		Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Oct 14, 2021)	criteria provided, single submitter

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Items: 44