ClinVar for PubMed (Select 26132555) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2136962	NM_000218.3(KCNQ1):c.1032+1G>T	KCNQ1	Single nucleotide variant (splice donor variant)	Long QT syndrome	GPathogenic
Select item 2017498	NM_000218.3(KCNQ1):c.1032+1G>C	KCNQ1	Single nucleotide variant (splice donor variant)	Long QT syndrome	GPathogenic
Select item 939724	NM_000218.3(KCNQ1):c.1032+2T>C	KCNQ1	Single nucleotide variant (splice donor variant)	Long QT syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 519204	NM_000238.4(KCNH2):c.307_307+1delinsTT	KCNH2	Indel (splice donor variant)	Long QT syndrome +1 more	GPathogenic
Select item 424733	NM_015902.5(UBR5):c.[3752G>A];[5837A>G]			Long QT syndrome	GUncertain significance
Select item 424732	NM_001146197.2(CCDC168):c.[3838G>A];[9652A>G]			Long QT syndrome	GLikely benign
Select item 424731	NM_002864.2(PZP):c.[1504G>A];[3325G>A]			Long QT syndrome	GLikely benign
Select item 207962	NM_001379403.1(WDR26):c.359G>A (p.Gly120Glu)	WDR26 (G20E +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 207961	NM_001206999.2(CIT):c.5783C>T (p.Ala1928Val)	CIT (A1928V +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 207960	NM_001252102.2(KIF21B):c.2224G>A (p.Glu742Lys)	KIF21B (E742K)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 207959	NM_058004.4(PI4KA):c.912C>G (p.Ile304Met)	PI4KA (I304M)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 207958	NM_015902.6(UBR5):c.2965C>T (p.Arg989Trp)	UBR5 (R989W)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 207957	NM_020765.3(UBR4):c.1557G>C (p.Gln519His)	UBR4 (Q519H)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 207956	NM_020765.3(UBR4):c.1349G>T (p.Arg450Leu)	UBR4 (R450L)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 207955	NM_020765.3(UBR4):c.1097A>G (p.Lys366Arg)	UBR4 (K366R)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 207954	NM_001035.3(RYR2):c.13780A>C (p.Lys4594Gln)	RYR2 (K4594Q)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 207953	NM_001035.3(RYR2):c.12438G>C (p.Glu4146Asp)	LOC126806068, RYR2 (E4146D)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 207952	NM_001035.3(RYR2):c.11017C>T (p.Arg3673Trp)	RYR2 (R3673W)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 207951	NM_001035.3(RYR2):c.8470C>T (p.Arg2824Trp)	RYR2 (R2824W)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +1 more	GUncertain significance
Select item 207950	NM_001035.3(RYR2):c.5278C>T (p.Arg1760Trp)	RYR2 (R1760W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 207949	NM_001035.3(RYR2):c.497C>G (p.Ser166Cys)	RYR2 (S166C)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 207948	NM_014697.3(NOS1AP):c.824C>T (p.Ser275Phe)	NOS1AP (S275F +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 207947	NM_014697.3(NOS1AP):c.1276G>A (p.Val426Met)	NOS1AP (V426M +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 207946	NM_005751.5(AKAP9):c.5341T>A (p.Ser1781Thr)	AKAP9 (S1781T)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely pathogenic
Select item 207945	NM_005751.5(AKAP9):c.2295T>A (p.Asp765Glu)	AKAP9 (D765E)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely pathogenic
Select item 207944	NM_001148.6(ANK2):c.8123T>C (p.Val2708Ala)	ANK2 (V2708A +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely pathogenic
Select item 207943	NM_001148.6(ANK2):c.6149T>C (p.Ile2050Thr)	ANK2, LOC126807136 (I2050T +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely pathogenic
Select item 207942	NM_001148.6(ANK2):c.4876A>G (p.Lys1626Glu)	ANK2 (K1626E +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely pathogenic
Select item 207941	NM_000238.4(KCNH2):c.307+2T>A	KCNH2	Single nucleotide variant (splice donor variant)	Long QT syndrome	GLikely pathogenic
Select item 207940	NM_000238.4(KCNH2):c.1849T>C (p.Phe617Leu)	KCNH2 (F277L +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 207939	NM_003364.4(UPP1):c.280C>T (p.Arg94Cys)	UPP1 (R94C)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely benign
Select item 207937	NM_014989.7(RIMS1):c.1477G>C (p.Glu493Gln)	RIMS1 (E493Q)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 207936	NM_001040458.3(ERAP1):c.955A>G (p.Met319Val)	ERAP1 (M319V)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207935	NM_024949.6(WWC2):c.3260T>C (p.Leu1087Pro)	WWC2 (L1087P)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207934	NM_017699.3(SIDT1):c.2194A>G (p.Lys732Glu)	SIDT1 (K732E +8 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely benign
Select item 207933	NM_018006.5(TRMU):c.1007A>C (p.Gln336Pro)	TRMU (Q336P +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely benign
Select item 207932	NM_058004.4(PI4KA):c.421G>A (p.Asp141Asn)	PI4KA (D141N)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 207931	NM_005968.5(HNRNPM):c.76G>A (p.Gly26Ser)	HNRNPM (G26S)	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome	GLikely benign
Select item 207930	NM_001394010.1(PTOV1):c.635A>T (p.Lys212Met)	PTOV1, PTOV1-AS2 (K212M +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 207928	NM_052892.5(PKD1L2):c.1080C>A (p.Cys360Ter)	PKD1L2 (C363* +1 more)	Single nucleotide variant (nonsense)	Long QT syndrome	GLikely benign
Select item 207927	NM_001080449.3(DNA2):c.811G>A (p.Gly271Arg)	DNA2 (G271R)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely benign
Select item 207926	NM_001010985.3(MYBPHL):c.475G>A (p.Gly159Ser)	MYBPHL (G159S +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207924	NM_001099220.3(ZNF862):c.637T>G (p.Trp213Gly)	ZNF862 (W213G)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207923	NM_001199161.2(USP19):c.1134G>T (p.Glu378Asp)	USP19 (E378D +11 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207922	NM_015151.4(DIP2A):c.2637+17G>A	DIP2A (R885Q)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely benign
Select item 207920	NM_004257.6(TGFBRAP1):c.642G>C (p.Lys214Asn)	TGFBRAP1 (K214N)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely benign
Select item 207918	NM_001199097.2(BAIAP3):c.2563G>C (p.Ala855Pro)	BAIAP3 (A855P +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207917	NM_002417.5(MKI67):c.7106T>C (p.Val2369Ala)	MKI67 (V2369A +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207916	NM_205860.3(NR5A2):c.1052A>T (p.Gln351Leu)	NR5A2 (Q351L +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207915	NM_021927.3(GUF1):c.655G>T (p.Asp219Tyr)	GUF1 (D219Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome	GLikely benign
Select item 207913	NM_001025091.2(ABCF1):c.2275C>T (p.Arg759Trp)	ABCF1 (R759W +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207911	NM_003489.4(NRIP1):c.640A>G (p.Arg214Gly)	NRIP1 (R214G)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207910	NM_001174150.2(ARL13B):c.379G>T (p.Val127Leu)	ARL13B (V127L +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 8	GUncertain significance
Select item 207909	NM_014588.6(VSX1):c.310G>C (p.Ala104Pro)	VSX1 (A104P)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely benign
Select item 207908	NM_173651.4(FSIP2):c.3943G>A (p.Glu1315Lys)	FSIP2-AS1, FSIP2 (E1315K)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207907	NM_002514.4(CCN3):c.605C>G (p.Ser202Ter)	CCN3 (S202*)	Single nucleotide variant (nonsense)	Long QT syndrome	GLikely benign
Select item 207905	NM_001378328.1(CELSR1):c.3406G>A (p.Asp1136Asn)	CELSR1 (D1136N)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207904	NM_001377142.1(PLCB4):c.448C>T (p.His150Tyr)	PLCB4 (H150Y)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207903	NM_014012.6(REM1):c.577G>A (p.Val193Met)	REM1 (V193M)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207901	NM_002997.5(SDC1):c.188C>T (p.Ser63Phe)	SDC1 (S63F)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207900	NM_176810.2(NLRP13):c.190G>A (p.Asp64Asn)	NLRP13 (D64N)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207899	NM_001346249.2(RALGAPA1):c.7514G>C (p.Arg2505Pro)	RALGAPA1 (R1999P +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207898	NM_025130.4(HKDC1):c.1001T>A (p.Ile334Asn)	HKDC1 (I334N)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207897	NM_003086.4(SNAPC4):c.3935G>A (p.Arg1312Gln)	SNAPC4 (R1312Q +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207896	NM_001282426.2(PIK3CG):c.574G>A (p.Asp192Asn)	PIK3CG (D192N)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 207895	NM_001372053.1(ANKRD31):c.743G>A (p.Arg248His)	ANKRD31 (R248H)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207894	NM_001282933.2(ZNF341):c.2164C>T (p.Arg722Cys)	ZNF341, ZNF341-AS1 (R715C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 207892	NM_025061.6(LRRC8E):c.1777G>A (p.Gly593Arg)	LRRC8E (G593R +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207890	NM_005035.4(POLRMT):c.2698G>A (p.Glu900Lys)	POLRMT (E900K)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207888	NM_016539.4(SIRT6):c.742C>T (p.Arg248Cys)	SIRT6 (R248C +5 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 207886	NM_001907.3(CTRL):c.217G>A (p.Ala73Thr)	CTRL (A73T)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207884	NM_022566.3(TLNRD1):c.845A>G (p.Lys282Arg)	TLNRD1 (K282R)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207882	NM_033337.3(CAV3):c.37A>T (p.Ile13Phe)	CAV3 (I13F)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely pathogenic
Select item 207881	NM_014390.4(SND1):c.1871A>C (p.Glu624Ala)	SND1 (E624A)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207880	NM_001329615.2(SNAPC5):c.223A>G (p.Thr75Ala)	SNAPC5 (T75A +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely benign
Select item 207879	NM_001012418.5(MYLK4):c.451G>A (p.Glu151Lys)	MYLK4 (E151K +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207877	NM_021226.4(ARHGAP22):c.14A>C (p.Lys5Thr)	ARHGAP22 (K5T)	Single nucleotide variant (missense variant +2 more)	Long QT syndrome	GLikely benign
Select item 207876	NM_000218.3(KCNQ1):c.683+2T>G	KCNQ1	Single nucleotide variant (splice donor variant +1 more)	Long QT syndrome	GLikely pathogenic
Select item 207875	NM_001372044.2(SHANK3):c.2368G>A (p.Asp790Asn)	SHANK3 (D715N +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207874	NM_001308209.2(PRSS57):c.89G>T (p.Gly30Val)	PRSS57 (G31V +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207872	NM_001010870.3(TDRD6):c.4720T>G (p.Cys1574Gly)	TDRD6 (C1574G)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207871	NM_018401.3(STK32B):c.487A>G (p.Thr163Ala)	STK32B (T163A +1 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely benign
Select item 207870	NM_003823.4(TNFRSF6B):c.649G>A (p.Asp217Asn)	RTEL1-TNFRSF6B, TNFRSF6B (D217N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 207869	NM_001024736.2(CD276):c.338G>A (p.Arg113His)	CD276 (R113H)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely benign
Select item 207868	NM_175748.4(UBR7):c.293G>A (p.Arg98His)	UBR7 (R98H)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely benign
Select item 207867	NM_001161476.3(WDR25):c.840C>A (p.Asp280Glu)	WDR25 (D280E +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207865	NM_001206999.2(CIT):c.5786C>A (p.Ser1929Tyr)	CIT (S1929Y +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 207864	NM_001010898.4(SLC6A17):c.2021G>A (p.Arg674His)	SLC6A17 (R674H)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207863	NM_001361665.2(FGF2):c.-74G>A	FGF2, LOC109113863 (G109D)	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome	GLikely benign
Select item 207861	NM_001282144.2(NLRX1):c.2252G>A (p.Arg751His)	NLRX1 (R751H)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207860	NM_001364905.1(LRBA):c.6124G>A (p.Glu2042Lys)	LRBA (E2053K +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207859	NM_003039.3(SLC2A5):c.808C>T (p.Arg270Trp)	SLC2A5 (R270W +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	Gassociation
Select item 207858	NM_003177.7(SYK):c.154G>T (p.Ala52Ser)	SYK (A52S)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207857	NM_017864.4(INTS8):c.484A>C (p.Lys162Gln)	INTS8 (K162Q)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely benign
Select item 207856	NM_014611.3(MDN1):c.9722T>C (p.Phe3241Ser)	MDN1 (F3241S)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207855	NM_002115.3(HK3):c.2035G>A (p.Glu679Lys)	HK3 (E679K)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207854	NM_153702.4(ELMOD2):c.674A>G (p.Lys225Arg)	ELMOD2 (K225R)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207852	NM_003619.4(PRSS12):c.1516G>A (p.Glu506Lys)	PRSS12 (E506K)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207851	NM_001670.3(ARVCF):c.1792G>A (p.Gly598Arg)	ARVCF (G598R)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 207849	NM_005858.4(AKAP8):c.787G>C (p.Gly263Arg)	AKAP8 (G263R)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign

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