ClinVar (all) for Orgtrack (Select 505849) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3894526	NM_000257.4(MYH7):c.3606G>C (p.Glu1202Asp)	MYH7 (E1202D)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894525	NM_001048174.2(MUTYH):c.420+19_420+35delinsAACG	MUTYH	Indel (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3894524	NM_000540.3(RYR1):c.7835+5_7835+7delinsGGT	RYR1	Indel (intron variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3894523	NM_174936.4(PCSK9):c.524-2A>G	PCSK9	Single nucleotide variant (splice acceptor variant)	Familial hypercholesterolemia	GUncertain significance
Select item 3894522	NM_000090.4(COL3A1):c.519T>C (p.Pro173=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3894521	NM_000090.4(COL3A1):c.852+4A>C	COL3A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3894520	NM_004415.4(DSP):c.4914C>G (p.Asp1638Glu)	DSP (D1638E)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3894519	NM_005359.6(SMAD4):c.1652_1654delinsAA (p.Leu551_Asp552delinsTer)	SMAD4	Indel (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3894518	NM_002878.4(RAD51D):c.14G>C (p.Arg5Thr)	RAD51D, RAD51L3-RFFL (R5T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3894517	NM_000257.4(MYH7):c.4797C>T (p.Thr1599=)	MHRT, LOC126861897 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GLikely benign
Select item 3894516	NM_001035.3(RYR2):c.13358C>T (p.Ala4453Val)	RYR2 (A4453V)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894515	NM_000256.3(MYBPC3):c.476T>C (p.Met159Thr)	MYBPC3 (M159T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894514	NM_007294.4(BRCA1):c.2449G>C (p.Gly817Arg)	BRCA1 (G521R +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3894513	NM_001035.3(RYR2):c.6850G>A (p.Gly2284Ser)	RYR2 (G2284S)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894512	NM_005159.5(ACTC1):c.450C>T (p.Thr150=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
Select item 3894511	NM_001035.3(RYR2):c.8216A>G (p.Asn2739Ser)	RYR2 (N2739S)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894510	NM_000038.6(APC):c.646-1807C>T	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3894509	NM_000038.6(APC):c.5570C>T (p.Ser1857Leu)	APC (S1473L +18 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3894508	NM_002474.3(MYH11):c.3117G>A (p.Leu1039=)	MYH11	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3894507	NM_000335.5(SCN5A):c.1941_1943del (p.Pro648del)	SCN5A (P648del)	Deletion (non-coding transcript variant)	Cardiac arrhythmia	GUncertain significance
Select item 3894506	NM_000059.4(BRCA2):c.2279dup (p.Leu760fs)	BRCA2 (L760fs)	Duplication (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3894505	NM_000138.5(FBN1):c.3646G>A (p.Glu1216Lys)	FBN1 (E1216K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3894504	NM_000256.3(MYBPC3):c.2737+3G>A	MYBPC3	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3894503	NM_000251.3(MSH2):c.1511-7_1511-5del	MSH2	Deletion (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3894502	NM_000059.4(BRCA2):c.10248A>C (p.Lys3416Asn)	BRCA2 (K1277N +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3894501	NM_000251.3(MSH2):c.692A>C (p.Asp231Ala)	MSH2 (D165A +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3894500	NM_000179.3(MSH6):c.2294_2295delinsAT (p.Cys765Tyr)	MSH6 (C463Y +8 more)	Indel (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3894499	NM_000535.7(PMS2):c.-9G>T	PMS2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3894498	NM_016203.4(PRKAG2):c.385TCC[2] (p.Ser131del)	PRKAG2 (S131del +1 more)	Microsatellite (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3894497	NM_016203.4(PRKAG2):c.789A>G (p.Arg263=)	PRKAG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3894496	NM_000363.5(TNNI3):c.145C>G (p.Leu49Val)	TNNI3 (L49V)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894495	NM_000059.4(BRCA2):c.1655C>T (p.Ser552Phe)	BRCA2 (S552F)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3894494	NM_004656.4(BAP1):c.255+6_255+7delinsGG	BAP1	Indel (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3894493	NM_000038.6(APC):c.2022G>T (p.Leu674Phe)	APC (L290F +18 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3894492	NM_000090.4(COL3A1):c.4192G>A (p.Gly1398Ser)	COL3A1 (G1398S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3894491	NM_024422.6(DSC2):c.1177del (p.Tyr393fs)	DSC2 (Y250fs +1 more)	Deletion (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 3894490	NM_000051.4(ATM):c.2292A>G (p.Lys764=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3894489	NM_001035.3(RYR2):c.973A>G (p.Lys325Glu)	RYR2 (K325E)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894488	NM_001035.3(RYR2):c.49-12C>A	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 3894487	NM_000432.4(MYL2):c.149G>A (p.Arg50Lys)	MYL2 (R31K +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3894486	NM_001005242.3(PKP2):c.1522T>G (p.Phe508Val)	PKP2 (F399V +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894485	NM_000138.5(FBN1):c.328T>A (p.Ser110Thr)	FBN1 (S110T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3894484	NM_000238.4(KCNH2):c.2985C>T (p.Ser995=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 3894483	NM_000335.5(SCN5A):c.3829A>C (p.Ile1277Leu)	SCN5A (I1224L +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3894482	NM_000059.4(BRCA2):c.1054T>A (p.Tyr352Asn)	BRCA2 (Y352N)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3894481	NM_000059.4(BRCA2):c.1048del (p.Glu350fs)	BRCA2 (E350fs)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3894480	NM_005902.4(SMAD3):c.1058C>T (p.Ala353Val)	SMAD3 (A158V +7 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3894479	NM_000059.4(BRCA2):c.3158T>A (p.Leu1053Ter)	BRCA2 (L1053*)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3894478	NM_000540.3(RYR1):c.1447C>T (p.Leu483Phe)	LOC129391106, RYR1 (L483F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3894477	NM_005359.6(SMAD4):c.231A>T (p.Thr77=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3894476	NM_002474.3(MYH11):c.4954-15T>G	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3894475	NM_000138.5(FBN1):c.6314-3C>T	FBN1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3894474	NM_000238.4(KCNH2):c.3330+5G>C	KCNH2	Single nucleotide variant (intron variant)	Cardiac arrhythmia	GLikely benign
Select item 3894473	NM_000540.3(RYR1):c.1980A>G (p.Lys660=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3894472	NM_000138.5(FBN1):c.4809A>C (p.Ile1603=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3894471	NM_004415.4(DSP):c.6546T>C (p.Ser2182=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3894470	NM_000249.4(MLH1):c.373G>C (p.Ala125Pro)	MLH1 (A125P +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3894469	NM_000090.4(COL3A1):c.604C>T (p.Pro202Ser)	COL3A1 (P202S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3894468	NM_000238.4(KCNH2):c.2319G>A (p.Gly773=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 3894467	NM_000251.3(MSH2):c.152T>G (p.Leu51Arg)	MSH2 (L51R)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3894466	NM_000238.4(KCNH2):c.2670del (p.Phe891fs)	KCNH2 (F551fs +2 more)	Deletion (frameshift variant +1 more)	Cardiac arrhythmia	GPathogenic
Select item 3894465	NM_024334.3(TMEM43):c.583+6T>C	TMEM43	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3894464	NM_004415.4(DSP):c.6467G>A (p.Arg2156Lys)	DSP (R1557K +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894463	NM_005359.6(SMAD4):c.845A>G (p.His282Arg)	SMAD4 (H282R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3894462	NM_005359.6(SMAD4):c.250-14G>T	SMAD4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3894461	NM_001943.5(DSG2):c.1570C>A (p.Pro524Thr)	DSG2 (P524T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894460	NM_000059.4(BRCA2):c.8274G>T (p.Leu2758=)	BRCA2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3894459	NM_024422.6(DSC2):c.743A>T (p.Tyr248Phe)	DSC2 (Y105F +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894458	NM_024675.4(PALB2):c.2493G>C (p.Leu831=)	PALB2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3894457	NM_004360.5(CDH1):c.1889T>G (p.Leu630Arg)	CDH1 (L114R +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3894456	NM_024675.4(PALB2):c.2610A>G (p.Val870=)	PALB2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3894455	NM_024675.4(PALB2):c.3020T>C (p.Met1007Thr)	PALB2 (M1007T +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3894454	NM_024675.4(PALB2):c.391A>G (p.Arg131Gly)	PALB2 (R111G +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3894453	NM_000051.4(ATM):c.4255C>T (p.Leu1419Phe)	ATM (L1419F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3894452	NM_000051.4(ATM):c.4191T>C (p.His1397=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3894451	NM_000038.6(APC):c.2466T>G (p.Leu822=)	APC	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3894450	NM_000051.4(ATM):c.265T>A (p.Ser89Thr)	ATM (S89T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3894449	NM_000059.4(BRCA2):c.1581A>T (p.Pro527=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3894448	NM_000257.4(MYH7):c.2276del (p.Gly759fs)	MYH7 (G759fs)	Deletion (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 3894447	NM_001613.4(ACTA2):c.990+1G>T	ACTA2-AS1, ACTA2	Single nucleotide variant (splice donor variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3894446	NM_000335.5(SCN5A):c.554C>A (p.Ala185Glu)	SCN5A (A185E)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3894445	NM_001005242.3(PKP2):c.-9A>G	PKP2	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 3894444	NM_003242.6(TGFBR2):c.287C>T (p.Thr96Ile)	TGFBR2 (T105I +3 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3894443	NM_000335.5(SCN5A):c.4053C>A (p.Gly1351=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 3894442	NM_174936.4(PCSK9):c.695G>A (p.Gly232Glu)	PCSK9 (G107E +5 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia	GUncertain significance
Select item 3894441	NM_001048174.2(MUTYH):c.1435-11T>C	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3894440	NM_001035.3(RYR2):c.11403-5T>C	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 3894439	NM_174936.4(PCSK9):c.377T>A (p.Met126Lys)	PCSK9 (M126K +2 more)	Single nucleotide variant (missense variant +3 more)	Familial hypercholesterolemia	GUncertain significance
Select item 3894438	NM_004415.4(DSP):c.7417A>G (p.Thr2473Ala)	DSP (T1874A +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894437	NM_016203.4(PRKAG2):c.1107C>A (p.Ser369Arg)	PRKAG2 (S127R +13 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3894436	NM_005902.4(SMAD3):c.388G>T (p.Val130Leu)	SMAD3 (V130L +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3894435	NM_024675.4(PALB2):c.66A>T (p.Ala22=)	PALB2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3894434	NM_032043.3(BRIP1):c.994T>C (p.Cys332Arg)	BRIP1 (C332R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3894433	NM_024675.4(PALB2):c.1841del (p.Leu614fs)	PALB2 (L18fs +3 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3894432	NM_001035.3(RYR2):c.9367+9del	RYR2	Deletion (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3894431	NM_001005242.3(PKP2):c.336+6A>C	PKP2	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 3894430	NM_001035.3(RYR2):c.7974A>G (p.Glu2658=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3894429	NM_000069.3(CACNA1S):c.1393+5G>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3894428	NM_002474.3(MYH11):c.611G>C (p.Gly204Ala)	MYH11 (G204A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3894427	NM_000138.5(FBN1):c.1418G>T (p.Arg473Leu)	FBN1 (R473L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance

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