ClinVar for MedGen (Select 393837) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2570592	NM_001232.4(CASQ2):c.607-4A>G	CASQ2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 2	GUncertain significance
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 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 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 2147929	NM_001232.4(CASQ2):c.389C>T (p.Ala130Val)	CASQ2 (A130V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 2146039	NM_001232.4(CASQ2):c.115G>C (p.Glu39Gln)	CASQ2 (E39Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2060616	NM_001232.4(CASQ2):c.693T>C (p.Pro231=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GLikely benign
Select item 1952376	NM_001232.4(CASQ2):c.987A>G (p.Pro329=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GLikely benign
Select item 1794787	NM_001232.4(CASQ2):c.268G>C (p.Gly90Arg)	CASQ2 (G90R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 1794420	NM_001232.4(CASQ2):c.265A>G (p.Ile89Val)	CASQ2 (I89V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
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 1768497	NM_001232.4(CASQ2):c.988C>G (p.Gln330Glu)	CASQ2 (Q330E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1753898	NM_001232.4(CASQ2):c.64G>A (p.Gly22Arg)	CASQ2 (G22R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 1733392	NM_001232.4(CASQ2):c.362G>A (p.Arg121His)	CASQ2 (R121H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GUncertain significance
Select item 1602198	NM_001232.4(CASQ2):c.114C>T (p.Ser38=)	CASQ2	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
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 1589700	NM_001232.4(CASQ2):c.912G>A (p.Leu304=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GLikely benign
Select item 1580261	NM_001232.4(CASQ2):c.625T>C (p.Leu209=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GLikely benign
Select item 1498700	NM_001232.4(CASQ2):c.1030A>T (p.Met344Leu)	CASQ2 (M344L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 1488299	NM_001232.4(CASQ2):c.979T>C (p.Phe327Leu)	CASQ2 (F327L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	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 1455253	NM_001232.4(CASQ2):c.939+5G>C	CASQ2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 1442304	NM_001232.4(CASQ2):c.793T>G (p.Leu265Val)	CASQ2 (L265V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 1437784	NM_001232.4(CASQ2):c.271T>C (p.Phe91Leu)	CASQ2 (F91L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1435834	NM_001232.4(CASQ2):c.281T>C (p.Val94Ala)	CASQ2 (V94A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
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 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 1387985	NM_001232.4(CASQ2):c.1081T>A (p.Trp361Arg)	CASQ2 (W361R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 1370226	NM_001232.4(CASQ2):c.31A>T (p.Ile11Phe)	CASQ2 (I11F)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 1368939	NM_001232.4(CASQ2):c.44C>G (p.Ser15Cys)	CASQ2 (S15C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1367739	NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter)	CASQ2 (Y192*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GPathogenic/Likely pathogenic
Select item 1329102	NM_001232.4(CASQ2):c.240G>A (p.Val80=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
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 1305233	NM_001232.4(CASQ2):c.692C>T (p.Pro231Leu)	CASQ2 (P231L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
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 1228377	NM_001232.4(CASQ2):c.705G>T (p.Glu235Asp)	CASQ2 (E235D)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2	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 1147911	NM_001232.4(CASQ2):c.927C>T (p.Asp309=)	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)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1085513	NM_001232.4(CASQ2):c.681C>T (p.Ile227=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1057873	NM_001232.4(CASQ2):c.482T>C (p.Ile161Thr)	CASQ2 (I161T)	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)	Cardiovascular phenotype +2 more	GUncertain significance
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 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 1034524	NM_001232.4(CASQ2):c.1136A>T (p.Asp379Val)	CASQ2 (D379V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
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 1024721	NM_001232.4(CASQ2):c.650A>G (p.Tyr217Cys)	CASQ2 (Y217C)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1024111	NM_001232.4(CASQ2):c.469G>C (p.Ala157Pro)	CASQ2 (A157P)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	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 978365	NM_001232.4(CASQ2):c.289A>G (p.Lys97Glu)	CASQ2 (K97E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 968797	NM_001232.4(CASQ2):c.326A>T (p.Asp109Val)	CASQ2 (D109V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 966355	NM_001232.4(CASQ2):c.478C>T (p.Arg160Cys)	CASQ2 (R160C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 964529	NM_001232.4(CASQ2):c.933T>A (p.Phe311Leu)	CASQ2 (F311L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 950162	NM_001232.4(CASQ2):c.409T>C (p.Phe137Leu)	CASQ2 (F137L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 939550	NM_001232.4(CASQ2):c.877C>T (p.Arg293Trp)	CASQ2 (R293W)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GUncertain significance
Select item 915585	NM_001232.4(CASQ2):c.738-27dup	CASQ2	Duplication (intron variant)	not provided +3 more	GBenign
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 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 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 876075	NM_001232.4(CASQ2):c.501C>G (p.Leu167=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 876074	NM_001232.4(CASQ2):c.533-12T>G	CASQ2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GConflicting classifications of pathogenicity
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 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 875171	NM_001232.3(CASQ2):c.-261T>A	CASQ2	Single nucleotide variant	Catecholaminergic polymorphic ventricular tachycardia 2	GUncertain significance
Select item 875120	NM_001232.4(CASQ2):c.673A>G (p.Ile225Val)	CASQ2 (I225V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
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 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 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 874250	NM_001232.3(CASQ2):c.-221G>A	CASQ2	Single nucleotide variant	Catecholaminergic polymorphic ventricular tachycardia 2	GUncertain significance
Select item 874249	NM_001232.3(CASQ2):c.-206T>C	CASQ2	Single nucleotide variant	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GLikely benign
Select item 874198	NM_001232.4(CASQ2):c.1014+3G>A	CASQ2	Single nucleotide variant (intron 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 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 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 852876	NM_001232.4(CASQ2):c.83A>G (p.Tyr28Cys)	CASQ2 (Y28C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +3 more	GUncertain significance
Select item 838554	NM_001232.4(CASQ2):c.158G>T (p.Cys53Phe)	CASQ2 (C53F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 811814	NM_001232.4(CASQ2):c.926A>T (p.Asp309Val)	CASQ2 (D309V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GUncertain significance
Select item 801535	NM_001232.4(CASQ2):c.381C>T (p.Gly127=)	CASQ2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GPathogenic/Likely pathogenic
Select item 760279	NM_001232.4(CASQ2):c.87T>C (p.Asp29=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 699317	NM_001232.4(CASQ2):c.474C>T (p.Phe158=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 695571	NM_001232.4(CASQ2):c.738-12_738-5del	CASQ2	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 672065	NM_001232.4(CASQ2):c.784-89C>T	CASQ2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GBenign
Select item 671742	NM_001232.4(CASQ2):c.738-109G>A	CASQ2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GBenign
Select item 671741	NM_001232.4(CASQ2):c.320-77C>T	CASQ2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GBenign
Select item 670158	NM_001232.4(CASQ2):c.421-18G>C	CASQ2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GBenign/Likely benign
Select item 670157	NM_001232.4(CASQ2):c.421-20A>T	CASQ2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GBenign/Likely benign
Select item 646041	NM_001232.4(CASQ2):c.205C>G (p.Gln69Glu)	CASQ2 (Q69E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 633142	NM_001232.4(CASQ2):c.101T>G (p.Val34Gly)	CASQ2 (V34G)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 626362	NM_001232.4(CASQ2):c.382G>A (p.Glu128Lys)	CASQ2 (E128K)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 580505	NM_001232.4(CASQ2):c.691C>T (p.Pro231Ser)	CASQ2 (P231S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
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 572954	NM_001232.4(CASQ2):c.748C>T (p.Arg250Cys)	CASQ2 (R250C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GConflicting classifications of pathogenicity
Select item 532351	NM_001232.4(CASQ2):c.491A>G (p.Tyr164Cys)	CASQ2 (Y164C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 532348	NM_001232.4(CASQ2):c.175C>T (p.Pro59Ser)	CASQ2 (P59S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 522304	NM_001232.4(CASQ2):c.421-7A>T	CASQ2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GBenign/Likely benign
Select item 522229	NM_001232.4(CASQ2):c.141G>C (p.Lys47Asn)	CASQ2 (K47N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 522228	NM_001232.4(CASQ2):c.738-8_738-5del	CASQ2	Deletion (intron variant)	Cardiomyopathy +2 more	GBenign/Likely benign
Select item 522227	NM_001232.4(CASQ2):c.738-7_738-5del	CASQ2	Deletion (intron variant)	Cardiomyopathy +3 more	GBenign
Select item 522226	NM_001232.4(CASQ2):c.738-5del	CASQ2	Deletion (intron variant)	Cardiomyopathy +3 more	GBenign
Select item 520464	NM_001232.4(CASQ2):c.1122TGA[2] (p.Asp376del)	CASQ2 (D376del)	Microsatellite (inframe_deletion)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance

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