ClinVar (all) for Orgtrack (Select 505776) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3602629	NM_001048174.2(MUTYH):c.-25T>C	MUTYH	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GBenign
Select item 3602628	NM_001042492.3(NF1):c.3049C>G (p.Gln1017Glu)	NF1 (Q1017E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3602627	NM_058216.3(RAD51C):c.404+91A>G	RAD51C	Single nucleotide variant (3 prime UTR variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 3602626	NM_058216.3(RAD51C):c.404+92T>C	RAD51C	Single nucleotide variant (3 prime UTR variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 3602625	NM_002485.5(NBN):c.481-32AT[6]	NBN	Microsatellite (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3602624	NM_024675.4(PALB2):c.293T>C (p.Ile98Thr)	PALB2 (I78T +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3381827	NM_001128425.2(MUTYH):c.36+230A>G	MUTYH	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3381826	NM_000038.6(APC):c.1573T>A (p.Cys525Ser)	APC (C141S +18 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3381825	NM_000455.5(STK11):c.*38A>T	STK11	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3340079	NM_000455.5(STK11):c.*426C>T	STK11	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3340078	NM_000455.5(STK11):c.*261C>T	STK11	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3340077	NM_000038.6(APC):c.830G>A (p.Gly277Asp)	APC (G218D +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3236731	NM_001128425.2(MUTYH):c.36+103G>A	MUTYH	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3236730	NM_000455.5(STK11):c.*181G>A	STK11	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3236729	NM_000051.4(ATM):c.1003G>A (p.Gly335Arg)	ATM (G335R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3236728	NM_058216.3(RAD51C):c.404+44A>G	RAD51C	Single nucleotide variant (3 prime UTR variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 3236727	NM_000251.3(MSH2):c.298G>C (p.Val100Leu)	MSH2 (V100L +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3236726	NM_000455.5(STK11):c.*37C>T	STK11	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3236725	NM_000455.5(STK11):c.*228T>C	STK11	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3232000	NM_000051.4(ATM):c.1040A>T (p.Glu347Val)	ATM (E347V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2844401	NM_000038.6(APC):c.7428G>A (p.Arg2476=)	APC	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2773618	NM_000251.3(MSH2):c.2380A>G (p.Ile794Val)	MSH2 (I783V +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2751828	NM_000059.4(BRCA2):c.9118-6C>A	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GConflicting classifications of pathogenicity
Select item 2683775	NM_000455.5(STK11):c.*309G>A	STK11	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2683774	NM_000535.7(PMS2):c.1293G>C (p.Glu431Asp)	PMS2 (E120D +19 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2683773	NM_001128425.2(MUTYH):c.36+217A>G	MUTYH	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2683772	NM_000059.4(BRCA2):c.4164T>G (p.Thr1388=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2683771	NM_000038.6(APC):c.1480A>T (p.Ser494Cys)	APC (S110C +18 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2683770	NM_032043.3(BRIP1):c.3528A>C (p.Ile1176=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 2683769	NM_000059.4(BRCA2):c.5530T>G (p.Phe1844Val)	BRCA2 (F1844V)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2683768	NM_000249.4(MLH1):c.770_771insGTCC (p.Ile257fs)	MLH1 (I159fs +3 more)	Insertion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 2683767	NM_000249.4(MLH1):c.768_769insCTCCA (p.Ile257fs)	MLH1 (I159fs +3 more)	Insertion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 2683766	NM_001128425.2(MUTYH):c.36+119G>A	MUTYH	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2683765	NM_000179.3(MSH6):c.3438+6T>G	MSH6	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2683764	NM_002485.5(NBN):c.172-28G>T	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2683763	NM_000038.6(APC):c.4589A>G (p.Glu1530Gly)	APC (E1146G +18 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2681850	NM_032043.3(BRIP1):c.-9G>C	BRIP1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2664917	NM_032043.3(BRIP1):c.3528_3529insTTT (p.Ile1176_Lys1177insPhe)	BRIP1	Insertion (inframe_insertion)	Familial cancer of breast +2 more	GUncertain significance
Select item 2627316	NM_000314.8(PTEN):c.-797G>A	LOC130004273, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2573125	NM_000059.4(BRCA2):c.4039_4043del (p.Val1347fs)	BRCA2 (V1347fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome	GPathogenic/Likely pathogenic
Select item 2573124	NM_000179.3(MSH6):c.1897A>T (p.Thr633Ser)	MSH6 (T331S +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2573123	NM_001042492.3(NF1):c.3193A>C (p.Thr1065Pro)	NF1 (T1065P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2573122	NM_002485.5(NBN):c.574C>G (p.Gln192Glu)	NBN (Q110E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2201762	NM_000535.7(PMS2):c.2500A>G (p.Met834Val)	PMS2 (M523V +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2122363	NM_024675.4(PALB2):c.926T>C (p.Ile309Thr)	PALB2 (I309T +2 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2102177	NM_002485.5(NBN):c.1583T>C (p.Leu528Ser)	NBN (L446S +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 1810756	NM_007294.4(BRCA1):c.4846G>C (p.Ala1616Pro)	BRCA1 (A1319P +77 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +2 more	GUncertain significance
Select item 1810755	NM_000038.6(APC):c.2934A>T (p.Gln978His)	APC (Q695H +18 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1810754	NM_001128425.2(MUTYH):c.36+181G>C	MUTYH	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1802741	NM_000535.7(PMS2):c.706-5_706-4dup	PMS2	Duplication (intron variant)	Lynch syndrome 4 +5 more	GConflicting classifications of pathogenicity
Select item 1787983	NM_000535.7(PMS2):c.2225A>G (p.Asn742Ser)	PMS2 (N341S +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1773580	NM_000051.4(ATM):c.1039G>T (p.Glu347Ter)	ATM (E347*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic
Select item 1722396	NM_000051.4(ATM):c.3759G>A (p.Lys1253=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1697623	NM_058216.3(RAD51C):c.404+44_404+45del	RAD51C	Microsatellite (3 prime UTR variant +2 more)	not specified +1 more	GLikely benign
Select item 1692300	NM_000251.3(MSH2):c.942+21_942+29del	MSH2	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 1685774	NM_000251.3(MSH2):c.942+23_942+29del	MSH2	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1662484	NM_000038.6(APC):c.1338C>A (p.Ile446=)	APC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1393971	NM_000535.7(PMS2):c.1537A>T (p.Ser513Cys)	PMS2 (S202C +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 1365657	NM_024675.4(PALB2):c.652G>A (p.Glu218Lys)	PALB2 (E218K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1331099	NM_000038.6(APC):c.3421A>G (p.Thr1141Ala)	APC (T1015A +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 1328224	NM_000535.7(PMS2):c.741_742insGTGTGTGAAG (p.Ser248fs)	PMS2 (S248fs +4 more)	Insertion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1323475	NM_000535.7(PMS2):c.736_740del (p.Leu245_Pro246insTer)	PMS2	Deletion (nonsense +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1319316	NM_001127511.3(APC):c.166-28443T>A	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1299660	NM_058216.3(RAD51C):c.404+71G>A	RAD51C	Single nucleotide variant (3 prime UTR variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1285616	NM_000455.5(STK11):c.*70C>G	STK11	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1285615	NM_000455.5(STK11):c.*176C>T	STK11	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1285614	NM_002485.5(NBN):c.1915-24C>T	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1244445	NM_001048174.2(MUTYH):c.-7+5C>G	MUTYH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200947	NM_058216.3(RAD51C):c.404+63_404+71dup	RAD51C	Duplication (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1171235	NM_007294.4(BRCA1):c.1855C>T (p.His619Tyr)	BRCA1 (H572Y +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1130979	NM_007294.4(BRCA1):c.1629T>C (p.Gly543=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1057242	NM_001042492.3(NF1):c.3033A>G (p.Ile1011Met)	NF1 (I1011M)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +2 more	GUncertain significance
Select item 1052632	NM_001042492.3(NF1):c.2050C>G (p.Gln684Glu)	NF1 (Q684E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1049771	NM_000535.7(PMS2):c.706-7_706-4del	PMS2	Deletion (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1017913	NM_001042492.3(NF1):c.2512A>G (p.Ile838Val)	NF1 (I838V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1014719	NM_000455.5(STK11):c.1259C>A (p.Ala420Asp)	STK11 (A420D)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +1 more	GUncertain significance
Select item 1003997	NM_000465.4(BARD1):c.850G>A (p.Glu284Lys)	BARD1 (E265K +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 972530	NM_000051.4(ATM):c.4433A>G (p.Gln1478Arg)	ATM (Q1478R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 947173	NM_000038.6(APC):c.6982T>A (p.Ser2328Thr)	APC (S2227T +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 941656	NM_000535.7(PMS2):c.1042G>C (p.Glu348Gln)	PMS2 (E157Q +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 927298	NM_000179.3(MSH6):c.3587A>T (p.Glu1196Val)	MSH6 (E894V +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 921760	NM_000038.6(APC):c.2513G>A (p.Arg838Lys)	APC (R747K +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 921188	NM_000038.6(APC):c.5827A>G (p.Arg1943Gly)	APC (R1817G +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 919693	NM_001048174.2(MUTYH):c.1425G>A (p.Gly475=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +1 more	GLikely benign
Select item 918318	NM_000546.6(TP53):c.74+50_74+55dup	TP53	Duplication (intron variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 890495	NM_000455.5(STK11):c.*460G>A	STK11	Single nucleotide variant (3 prime UTR variant)	Peutz-Jeghers syndrome +1 more	GBenign/Likely benign
Select item 888788	NM_000455.5(STK11):c.*332C>T	STK11	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 867325	NM_007294.4(BRCA1):c.200A>C (p.Asp67Ala)	BRCA1 (D20A +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 859558	NM_000051.4(ATM):c.929G>A (p.Ser310Asn)	ATM (S310N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 858467	NM_000059.4(BRCA2):c.668A>C (p.His223Pro)	BRCA2 (H223P)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 856126	NM_001042492.3(NF1):c.4298C>G (p.Pro1433Arg)	NF1 (P1412R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 826664	NM_000465.4(BARD1):c.684A>T (p.Glu228Asp)	BARD1 (E209D +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 826236	NM_000535.7(PMS2):c.619G>C (p.Gly207Arg)	PMS2 (G101R +3 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 826041	NM_032043.3(BRIP1):c.589T>C (p.Ser197Pro)	BRIP1 (S197P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +3 more	GUncertain significance
Select item 825451	NM_001042492.3(NF1):c.5167C>G (p.Gln1723Glu)	NF1 (Q1723E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 822850	NM_000179.3(MSH6):c.3093C>T (p.Asp1031=)	MSH6	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 822380	NM_000051.4(ATM):c.2968A>G (p.Ile990Val)	ATM (I990V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 822318	NM_024675.4(PALB2):c.834A>T (p.Leu278=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 822315	NM_024675.4(PALB2):c.833T>A (p.Leu278Gln)	PALB2 (L278Q)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 5 +3 more	GConflicting classifications of pathogenicity
Select item 821557	NM_024675.4(PALB2):c.2602T>C (p.Cys868Arg)	PALB2 (C868R)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance

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