ClinVar for MedGen (Select 12162) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1303564	NM_016203.4(PRKAG2):c.1295C>T (p.Thr432Met)	PRKAG2 (T191M +4 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart +5 more	GUncertain significance
Select item 1284683	NM_016203.4(PRKAG2):c.1106+19del	PRKAG2	Deletion (intron variant)	Lethal congenital glycogen storage disease of heart +2 more	GBenign/Likely benign
Select item 1284416	NM_016203.4(PRKAG2):c.590C>T (p.Pro197Leu)	PRKAG2 (P153L +2 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart +4 more	GUncertain significance
Select item 1000417	NM_016203.4(PRKAG2):c.187-3C>T	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart +2 more	GUncertain significance
Select item 966582	NM_016203.4(PRKAG2):c.473G>A (p.Gly158Asp)	PRKAG2 (G114D +2 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart +2 more	GUncertain significance
Select item 931949	NM_016203.4(PRKAG2):c.413C>G (p.Ser138Cys)	PRKAG2 (S138C +1 more)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 923868	NM_016203.4(PRKAG2):c.727C>G (p.Leu243Val)	LOC129999660, PRKAG2 (L199V +3 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart +3 more	GUncertain significance
Select item 919004	NM_016203.4(PRKAG2):c.1238C>G (p.Ser413Cys)	PRKAG2 (S172C +4 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart +5 more	GUncertain significance
Select item 912206	NM_016203.4(PRKAG2):c.90G>T (p.Arg30Ser)	PRKAG2 (R30S)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 912141	NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu)	PRKAG2 (P114L +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 912070	NM_016203.4(PRKAG2):c.1324G>A (p.Asp442Asn)	PRKAG2 (D201N +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 6 +3 more	GUncertain significance
Select item 912012	NM_016203.4(PRKAG2):c.*256T>G	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 911968	NM_016203.4(PRKAG2):c.*953T>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 910975	NM_016203.4(PRKAG2):c.119T>A (p.Leu40Gln)	PRKAG2 (L40Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiomyopathy +4 more	GUncertain significance
Select item 910804	NM_016203.4(PRKAG2):c.*398C>T	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 910803	NM_016203.4(PRKAG2):c.*399G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 910802	NM_016203.4(PRKAG2):c.*419C>T	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 910801	NM_016203.4(PRKAG2):c.*450T>C	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 910747	NM_016203.4(PRKAG2):c.*1021T>G	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 910746	NM_016203.4(PRKAG2):c.*1030T>G	PRKAG2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 910745	NM_016203.4(PRKAG2):c.*1043G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 910143	NM_016203.4(PRKAG2):c.-481G>A	PRKAG2, PRKAG2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 909955	NM_016203.4(PRKAG2):c.*56G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 909898	NM_016203.4(PRKAG2):c.*471T>C	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 909098	NM_016203.4(PRKAG2):c.*156A>G	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 909038	NM_016203.4(PRKAG2):c.*771C>T	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 908128	NM_016203.4(PRKAG2):c.278T>C (p.Val93Ala)	PRKAG2 (V93A +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 696154	NM_016203.4(PRKAG2):c.147C>T (p.Asp49=)	PRKAG2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +7 more	GLikely benign
Select item 695734	NM_016203.4(PRKAG2):c.297C>T (p.Pro99=)	PRKAG2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +5 more	GLikely benign
Select item 626749	NM_016203.4(PRKAG2):c.997T>G (p.Ser333Ala)	PRKAG2 (S333A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 572592	NM_016203.4(PRKAG2):c.581C>T (p.Ser194Leu)	PRKAG2 (S194L +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 520489	NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu)	PRKAG2 (K11E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 6 +5 more	GUncertain significance
Select item 520278	NM_016203.4(PRKAG2):c.432C>T (p.Pro144=)	PRKAG2	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 487639	NM_000257.4(MYH7):c.5779A>T (p.Ile1927Phe)	MYH7 (I1927F)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 487638	NM_133372.3(FNIP1):c.2753_2756del (p.Lys918fs)	FNIP1 (K873fs +2 more)	Deletion (frameshift variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487637	NM_016203.4(PRKAG2):c.359G>A (p.Arg120His)	PRKAG2 (R120H +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 487636	NM_000256.3(MYBPC3):c.1219G>C (p.Gly407Arg)	MYBPC3 (G407R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 487635	NM_170707.4(LMNA):c.1756G>A (p.Val586Met)	LMNA (V474M +2 more)	Single nucleotide variant (missense variant)	not specified +15 more	GUncertain significance
Select item 487634	NM_014000.3(VCL):c.3379G>A (p.Val1127Ile)	VCL (V1127I +1 more)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487633	NM_022114.4(PRDM16):c.1642C>A (p.Pro548Thr)	PRDM16 (P548T)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487632	NM_003242.6(TGFBR2):c.1563G>A (p.Trp521Ter)	TGFBR2 (W521* +10 more)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 487631	NM_001276345.2(TNNT2):c.3G>A (p.Met1Ile)	TNNT2 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 487630	NM_014000.3(VCL):c.550C>T (p.His184Tyr)	VCL (H184Y)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 487629	NM_001134363.3(RBM20):c.934C>A (p.Leu312Met)	RBM20 (L312M)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487628	NM_001297663.2(TTC39A):c.1322C>T (p.Thr441Met)	TTC39A (T445M +6 more)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487627	NM_014000.3(VCL):c.1928C>T (p.Thr643Met)	VCL (T643M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 487626	NM_000238.4(KCNH2):c.2046G>C (p.Glu682Asp)	KCNH2 (E342D +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 487625	NM_005159.5(ACTC1):c.524_525insC (p.Ala176fs)	ACTC1, GJD2-DT (A176fs)	Insertion (frameshift variant)	Wolff-Parkinson-White pattern	GLikely pathogenic
Select item 487624	NM_000891.3(KCNJ2):c.49G>A (p.Asp17Asn)	KCNJ2 (D17N)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487623	NM_001297663.2(TTC39A):c.1490C>G (p.Ala497Gly)	TTC39A (A501G +6 more)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487622	NM_001458.5(FLNC):c.6748A>C (p.Met2250Leu)	FLNC, FLNC-AS1 (M2250L +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 487621	NM_007013.4(WWP1):c.1879A>T (p.Met627Leu)	WWP1 (M627L)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487620	NM_001035.3(RYR2):c.3767C>T (p.Pro1256Leu)	LOC126806067, RYR2 (P1256L)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 487619	NM_001148.6(ANK2):c.1427A>G (p.Gln476Arg)	ANK2 (Q455R +11 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 487618	NM_022450.5(RHBDF1):c.47A>C (p.Lys16Thr)	RHBDF1 (K16T)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487617	NM_002293.4(LAMC1):c.3304C>T (p.Arg1102Cys)	LAMC1 (R1102C)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487616	NM_017636.4(TRPM4):c.2732C>T (p.Thr911Met)	TRPM4 (T911M +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 487615	NM_002471.4(MYH6):c.4430G>T (p.Arg1477Leu)	MYH6 (R1477L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 487614	NM_130797.4(DPP6):c.1154T>C (p.Met385Thr)	DPP6 (M321T +4 more)	Single nucleotide variant (missense variant +1 more)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487613	NM_004415.4(DSP):c.3754G>A (p.Glu1252Lys)	DSP (E1252K)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 487612	NM_004415.4(DSP):c.193C>T (p.His65Tyr)	DSP (H65Y)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487611	NM_022450.5(RHBDF1):c.1613C>T (p.Ala538Val)	RHBDF1 (A538V)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487610	NM_000256.3(MYBPC3):c.2603G>A (p.Gly868Asp)	MYBPC3 (G868D)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487609	NM_001105206.3(LAMA4):c.1420G>T (p.Val474Phe)	LAMA4 (V467F +1 more)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487608	NM_181703.4(GJA5):c.895G>A (p.Glu299Lys)	GJA5 (E299K)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487607	NM_022114.4(PRDM16):c.2666C>T (p.Pro889Leu)	PRDM16 (P889L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 487606	NM_020297.4(ABCC9):c.448A>G (p.Ile150Val)	ABCC9 (I150V)	Single nucleotide variant (missense variant +1 more)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487605	NM_022450.5(RHBDF1):c.200G>A (p.Arg67Gln)	RHBDF1 (R67Q)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487604	NM_022450.5(RHBDF1):c.14G>A (p.Arg5His)	RHBDF1 (R5H)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487603	NM_181486.4(TBX5):c.618T>G (p.Phe206Leu)	TBX5 (F206L +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GUncertain significance
Select item 487602	NM_001035.3(RYR2):c.2984T>C (p.Met995Thr)	RYR2 (M995T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GUncertain significance
Select item 487601	NM_005751.5(AKAP9):c.10591C>G (p.Gln3531Glu)	AKAP9 (Q3523E +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 487600	NM_001205293.3(CACNA1E):c.6649C>T (p.Gln2217Ter)	CACNA1E (Q2174* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 487599	NM_015141.4(GPD1L):c.775G>A (p.Gly259Arg)	GPD1L (G259R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 487598	NM_130797.4(DPP6):c.1091C>G (p.Pro364Arg)	DPP6 (P300R +4 more)	Single nucleotide variant (missense variant +1 more)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487597	NM_020297.4(ABCC9):c.2019+2T>C	ABCC9	Single nucleotide variant (splice donor variant)	Wolff-Parkinson-White pattern	GLikely pathogenic
Select item 487596	NM_005751.5(AKAP9):c.11297G>A (p.Arg3766Gln)	AKAP9 (R3758Q +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 487595	NM_001267550.2(TTN):c.66904C>T (p.Leu22302=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Wolff-Parkinson-White pattern	GLikely pathogenic
Select item 487594	NM_000325.6(PITX2):c.194C>T (p.Pro65Leu)	PITX2 (P65L)	Single nucleotide variant (intron variant +1 more)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487593	NM_001458.5(FLNC):c.3014C>T (p.Ser1005Leu)	FLNC (S1005L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +3 more	GUncertain significance
Select item 487592	NM_022114.4(PRDM16):c.2855C>T (p.Thr952Met)	PRDM16 (T952M)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 487591	NM_001148.6(ANK2):c.742G>A (p.Val248Met)	ANK2 (V227M +8 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 487590	NM_005159.5(ACTC1):c.944T>A (p.Met315Lys)	ACTC1, GJD2-DT (M315K)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487589	NM_133372.3(FNIP1):c.455+1G>A	FNIP1	Single nucleotide variant (splice donor variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487588	NM_001103.4(ACTN2):c.2075T>A (p.Ile692Asn)	ACTN2 (I692N +1 more)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487587	NM_001148.6(ANK2):c.11692A>G (p.Lys3898Glu)	ANK2 (K1804E +51 more)	Single nucleotide variant (missense variant +1 more)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487586	NM_002474.3(MYH11):c.5897A>G (p.Asn1966Ser)	MYH11, NDE1 (N1973S +1 more)	Single nucleotide variant (intron variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 487585	NM_006393.3(NEBL):c.2473C>T (p.His825Tyr)	NEBL (H162Y +5 more)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487584	NM_002230.4(JUP):c.251G>A (p.Arg84Gln)	JUP (R84Q)	Single nucleotide variant (missense variant)	Naxos disease +2 more	GUncertain significance
Select item 487583	NM_022450.5(RHBDF1):c.1384G>A (p.Gly462Arg)	RHBDF1 (G462R)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 487582	NM_022114.4(PRDM16):c.706G>A (p.Asp236Asn)	PRDM16 (D236N)	Single nucleotide variant (missense variant)	PRDM16-related condition +2 more	GLikely benign
Select item 465344	NM_016203.4(PRKAG2):c.947-7G>A	PRKAG2	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 465343	NM_016203.4(PRKAG2):c.88A>C (p.Arg30=)	PRKAG2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 6 +5 more	GConflicting classifications of pathogenicity
Select item 465337	NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn)	PRKAG2 (D372N +4 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart +7 more	GUncertain significance
Select item 465010	NM_001110556.2(FLNA):c.6268G>C (p.Val2090Leu)	FLNA (V2082L +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +4 more	GConflicting classifications of pathogenicity
Select item 456884	NM_000238.4(KCNH2):c.1225G>A (p.Val409Met)	KCNH2 (V69M +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +3 more	GUncertain significance
Select item 452250	NM_001232.4(CASQ2):c.2T>C (p.Met1Thr)	CASQ2 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 451944	NM_016203.4(PRKAG2):c.1372T>G (p.Ser458Ala)	PRKAG2 (S458A +4 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart +3 more	GUncertain significance
Select item 438266	NM_001077653.2(TBX20):c.995del (p.Pro332fs)	TBX20 (P332fs)	Deletion (frameshift variant)	Hypoplastic left heart syndrome +2 more	GPathogenic
Select item 430968	NM_016203.4(PRKAG2):c.547G>A (p.Glu183Lys)	PRKAG2 (E183K +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance

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