ClinVar (all) for Orgtrack (Select 505816) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978378	NM_000527.5(LDLR):c.783C>T (p.Cys261=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Familial hypercholesterolemia +2 more	GConflicting classifications of pathogenicity
Select item 978377	NM_000527.5(LDLR):c.1922T>A (p.Leu641Ter)	LDLR (L473* +3 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 978376	NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu)	TAFAZZIN (D175E +4 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1A +1 more	GUncertain significance
Select item 978375	NM_003098.3(SNTA1):c.-6G>A	LOC130065680, SNTA1	Single nucleotide variant (5 prime UTR variant)	Long QT syndrome 1	GUncertain significance
Select item 978374	NM_001134363.3(RBM20):c.2817C>T (p.Asp939=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 978373	NM_020433.5(JPH2):c.438C>A (p.Ser146Arg)	JPH2 (S146R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +1 more	GUncertain significance
Select item 978372	NM_000117.3(EMD):c.19C>T (p.Leu7Phe)	EMD (L7F)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A	GUncertain significance
Select item 978371	NM_003238.6(TGFB2):c.622delinsGG (p.His208fs)	TGFB2 (H208fs +1 more)	Indel (non-coding transcript variant +1 more)	Marfan syndrome	GLikely pathogenic
Select item 978370	NM_001148.6(ANK2):c.1173G>T (p.Pro391=)	ANK2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 978369	NM_001148.6(ANK2):c.2735A>G (p.His912Arg)	ANK2 (H121R +24 more)	Single nucleotide variant (missense variant)	Conduction disorder of the heart +1 more	GUncertain significance
Select item 978368	NM_001148.6(ANK2):c.10447G>A (p.Asp3483Asn)	ANK2 (D2283N +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 1 +1 more	GUncertain significance
Select item 978367	NM_001148.6(ANK2):c.3882C>T (p.Asn1294=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 978366	NM_001035.3(RYR2):c.9848T>A (p.Ile3283Asn)	RYR2 (I3283N)	Single nucleotide variant (missense variant)	Conduction disorder of the heart	GLikely pathogenic
Select item 978365	NM_001232.4(CASQ2):c.289A>G (p.Lys97Glu)	CASQ2 (K97E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +3 more	GUncertain significance
Select item 978364	NM_001018005.2(TPM1):c.240+4423G>T	LOC130057222, TPM1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 978363	NM_001018005.2(TPM1):c.45G>A (p.Lys15=)	TPM1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 978362	NM_001018005.2(TPM1):c.240+4432G>T	TPM1-AS, LOC130057222 +1 more	Single nucleotide variant (synonymous variant +2 more)	not specified	GBenign
Select item 978361	NM_001018005.2(TPM1):c.114G>A (p.Gln38=)	TPM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +1 more	GConflicting classifications of pathogenicity
Select item 978360	NM_001276345.2(TNNT2):c.456T>G (p.Asn152Lys)	TNNT2 (N112K +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 978359	NM_000363.5(TNNI3):c.438A>T (p.Arg146Ser)	TNNI3 (R146S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 978358	NM_000363.5(TNNI3):c.366C>G (p.Ile122Met)	TNNI3 (I122M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 978357	NM_000256.3(MYBPC3):c.1183A>T (p.Lys395Ter)	MYBPC3 (K395*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 1 +1 more	GPathogenic
Select item 978356	NM_000238.4(KCNH2):c.1595T>C (p.Leu532Pro)	KCNH2 (L192P +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 978355	NM_000384.3(APOB):c.11826C>T (p.Ala3942=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +2 more	GBenign/Likely benign
Select item 978354	NM_000384.3(APOB):c.13004C>T (p.Thr4335Ile)	APOB (T4335I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 978353	NM_000384.3(APOB):c.4140A>G (p.Thr1380=)	APOB	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 978352	NM_000384.3(APOB):c.6922G>A (p.Glu2308Lys)	APOB (E2308K)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 978350	NM_144573.4(NEXN):c.460A>G (p.Asn154Asp)	NEXN (N154D +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A	GUncertain significance
Select item 978349	NM_144573.4(NEXN):c.1073C>T (p.Pro358Leu)	NEXN (P294L +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +4 more	GUncertain significance
Select item 978348	NM_144573.4(NEXN):c.1695C>G (p.Ile565Met)	NEXN (I501M +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A	GUncertain significance
Select item 978347	NM_144573.4(NEXN):c.917G>A (p.Arg306His)	NEXN (R242H +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 978346	NM_032578.4(MYPN):c.1103G>A (p.Gly368Asp)	MYPN (G368D +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 978345	NM_004006.3(DMD):c.6072T>C (p.Cys2024=)	DMD	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 978344	NM_004006.3(DMD):c.1603G>A (p.Val535Ile)	DMD (V412I +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 978343	NM_004006.3(DMD):c.6847A>G (p.Ile2283Val)	DMD (I2160V +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 978342	NM_003476.5(CSRP3):c.319C>A (p.Pro107Thr)	CSRP3 (P107T)	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 12 +2 more	GUncertain significance
Select item 978341	NM_003476.5(CSRP3):c.483dup (p.Lys162fs)	CSRP3 (K162fs +1 more)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 978340	NM_000719.7(CACNA1C):c.4578G>A (p.Pro1526=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GBenign/Likely benign
Select item 978339	NM_001148.6(ANK2):c.1338T>A (p.Ile446=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 978338	NM_001148.6(ANK2):c.11009C>T (p.Thr3670Ile)	ANK2 (T1424I +43 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +1 more	GUncertain significance
Select item 978337	NM_016203.4(PRKAG2):c.1038T>G (p.Ile346Met)	PRKAG2 (I105M +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 978336	NM_001267550.2(TTN):c.94291G>T (p.Glu31431Ter)	TTN, TTN-AS1 (E22366* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +3 more	GPathogenic/Likely pathogenic
Select item 978335	NM_001267550.2(TTN):c.65890A>T (p.Lys21964Ter)	TTN, TTN-AS1 (K12899* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1A	GPathogenic
Select item 978334	NM_001267550.2(TTN):c.68823C>A (p.Tyr22941Ter)	TTN, TTN-AS1 (Y13876* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1A	GPathogenic
Select item 978333	NM_000335.5(SCN5A):c.5811A>C (p.Glu1937Asp)	SCN5A (E1884D +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +9 more	GUncertain significance
Select item 978332	NM_000335.5(SCN5A):c.1850A>T (p.His617Leu)	SCN5A (H617L)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +2 more	GUncertain significance
Select item 978331	NM_001005242.3(PKP2):c.1926T>A (p.Tyr642Ter)	PKP2 (Y642* +1 more)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 1 +1 more	GPathogenic/Likely pathogenic
Select item 978330	NM_004415.4(DSP):c.6348_6351del (p.Asp2117fs)	DSP (D1518fs +2 more)	Microsatellite (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 978329	NM_004415.4(DSP):c.7850G>A (p.Ser2617Asn)	DSP (S2018N +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 978328	NM_022773.4(LMF1):c.1060C>T (p.Arg354Trp)	LMF1 (R137W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 978327	NM_022773.4(LMF1):c.1091G>A (p.Arg364Gln)	LMF1 (R147Q +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GBenign
Select item 978326	NM_178172.6(GPIHBP1):c.191G>A (p.Arg64Gln)	GPIHBP1 (R64Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 978325	NM_001371904.1(APOA5):c.494G>C (p.Gly165Ala)	APOA5 (G165A)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 978324	NM_001371904.1(APOA5):c.990_993del (p.Asp332fs)	APOA5 (D332fs)	Microsatellite (frameshift variant)	Familial type 5 hyperlipoproteinemia +3 more	GPathogenic/Likely pathogenic
Select item 978323	NM_000384.3(APOB):c.697C>T (p.Arg233Cys)	APOB (R233C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 978322	NM_017636.4(TRPM4):c.216C>T (p.Thr72=)	TRPM4	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 978321	NM_003673.4(TCAP):c.88C>T (p.Leu30=)	TCAP	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 978320	NM_002471.4(MYH6):c.2091C>A (p.Cys697Ter)	MYH6 (C697*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 1 +1 more	GUncertain significance
Select item 978319	NM_002471.4(MYH6):c.678C>G (p.Pro226=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 978318	NM_007078.3(LDB3):c.1355C>A (p.Thr452Asn)	LDB3 (T342N +4 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 978317	NM_001103.4(ACTN2):c.1794G>C (p.Pro598=)	ACTN2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GLikely benign
Select item 978316	NM_001103.4(ACTN2):c.1359G>A (p.Ala453=)	ACTN2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1AA +3 more	GLikely benign
Select item 978315	NM_001103.4(ACTN2):c.463G>A (p.Glu155Lys)	ACTN2 (E155K)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1A	GUncertain significance
Select item 978314	NM_003242.6(TGFBR2):c.960A>G (p.Gln320=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 978313	NM_005902.4(SMAD3):c.1136G>T (p.Gly379Val)	SMAD3 (G184V +3 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 978312	NM_000138.5(FBN1):c.4629del (p.Asp1543fs)	FBN1 (D1543fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 978311	NM_005159.5(ACTC1):c.854T>A (p.Met285Lys)	ACTC1, GJD2-DT (M285K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +3 more	GUncertain significance
Select item 978310	NM_005159.5(ACTC1):c.455G>A (p.Gly152Asp)	ACTC1, GJD2-DT (G152D)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A	GUncertain significance
Select item 978309	NM_004281.4(BAG3):c.568_577del (p.Ser190fs)	BAG3 (S190fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 978308	NM_001035.3(RYR2):c.11153A>G (p.Glu3718Gly)	RYR2 (E3718G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 978307	NM_000256.3(MYBPC3):c.3788G>C (p.Arg1263Pro)	MYBPC3 (R1263P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 978306	NM_000256.3(MYBPC3):c.3166G>C (p.Ala1056Pro)	MYBPC3 (A1056P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 978305	NM_000256.3(MYBPC3):c.3453G>A (p.Ala1151=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 978304	NM_000256.3(MYBPC3):c.1383_1384dup (p.Asp462fs)	MYBPC3 (D462fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 978303	NM_000384.3(APOB):c.3927T>A (p.Asp1309Glu)	APOB (D1309E)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 978302	NM_000384.3(APOB):c.3692T>C (p.Ile1231Thr)	APOB (I1231T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 978301	NM_000384.3(APOB):c.7148_7149del (p.Gln2383fs)	APOB (Q2383fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 978300	NM_032578.4(MYPN):c.2476C>A (p.Pro826Thr)	MYPN (P532T +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1A	GUncertain significance
Select item 978299	NM_002471.4(MYH6):c.2685G>A (p.Ala895=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 978298	NM_002471.4(MYH6):c.4700T>G (p.Phe1567Cys)	LOC126861896, MYH6 (F1567C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 978297	NM_002471.4(MYH6):c.2589G>C (p.Glu863Asp)	MYH6 (E863D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 978296	NM_002471.4(MYH6):c.4645G>A (p.Ala1549Thr)	MYH6 (A1549T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 978295	NM_000719.7(CACNA1C):c.1255G>C (p.Gly419Arg)	CACNA1C (G416R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 978294	NM_000719.7(CACNA1C):c.4821T>C (p.Pro1607=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GBenign/Likely benign
Select item 978293	NM_014391.3(ANKRD1):c.27+1G>T	ANKRD1	Single nucleotide variant (splice donor variant)	ANKRD1-related dilated cardiomyopathy +2 more	GUncertain significance
Select item 978292	NM_014391.3(ANKRD1):c.109G>A (p.Val37Ile)	ANKRD1 (V37I)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy +1 more	GUncertain significance
Select item 978291	NM_005751.5(AKAP9):c.881T>G (p.Phe294Cys)	AKAP9 (F294C)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GUncertain significance
Select item 978290	NM_005751.5(AKAP9):c.1981A>C (p.Ile661Leu)	AKAP9 (I661L)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 978289	NM_005751.5(AKAP9):c.11350C>T (p.Arg3784Trp)	AKAP9 (R1999W +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +1 more	GUncertain significance
Select item 978288	NM_001267550.2(TTN):c.2445C>T (p.His815=)	TTN	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 978287	NM_001267550.2(TTN):c.55639C>T (p.Gln18547Ter)	TTN, TTN-AS1 (Q15979* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +2 more	GPathogenic/Likely pathogenic
Select item 978286	NM_001267550.2(TTN):c.45107del (p.Asn15036fs)	LOC126806427, TTN (N12468fs +5 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 978285	NM_001267550.2(TTN):c.56831T>A (p.Leu18944Ter)	TTN, TTN-AS1 (L10004* +5 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 978284	NM_001267550.2(TTN):c.71437_71440dup (p.Thr23814fs)	TTN, TTN-AS1 (T14749fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1A	GPathogenic
Select item 978283	NM_001267550.2(TTN):c.61447_61449del (p.Arg20483del)	TTN, TTN-AS1 (R11418del +5 more)	Deletion (inframe_deletion)	Conduction disorder of the heart	GUncertain significance
Select item 978281	NM_001005242.3(PKP2):c.2358-2A>G	PKP2	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic right ventricular dysplasia 1	GLikely pathogenic
Select item 978280	NM_000257.4(MYH7):c.4543C>G (p.Gln1515Glu)	MHRT, MYH7 (Q1515E)	Single nucleotide variant (non-coding transcript variant +1 more)	Conduction disorder of the heart +1 more	GUncertain significance
Select item 978279	NM_001943.5(DSG2):c.2768C>G (p.Pro923Arg)	DSG2, DSG2-AS1 (P923R)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 978278	NM_024422.6(DSC2):c.1281A>C (p.Glu427Asp)	DSC2 (E427D)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +1 more	GUncertain significance
Select item 978277	NM_024422.6(DSC2):c.1913_1916del (p.Gln638fs)	DSC2 (Q638fs)	Deletion (frameshift variant)	Familial isolated arrhythmogenic right ventricular dysplasia +1 more	GConflicting classifications of pathogenicity

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