ClinVar for PubMed (Select 23199084) - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 850778	NM_000059.4(BRCA2):c.7806-1G>C	BRCA2	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 583707	NC_000017.11:g.(?_43063854)_(43125483_?)del	BRCA1, LOC110485084 +3 more	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 531553	NC_000017.11:g.(?_43063868)_(43124102_?)del	BRCA1, LOC110485084 +2 more	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 433845	NM_000059.3(BRCA2):c.68_316del249 (p.Asp23_Leu105del)	BRCA2	Deletion	not provided +1 more	GPathogenic/Likely pathogenic
Select item 409338	NM_007294.4(BRCA1):c.4064_4066delinsT (p.Asn1355fs)	BRCA1, LOC126862571 (N1308fs +21 more)	Indel (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55588	NM_007294.4(BRCA1):c.5467G>A (p.Ala1823Thr)	BRCA1 (A1823T +90 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 55488	NM_007294.4(BRCA1):c.5258G>C (p.Arg1753Thr)	BRCA1 (R1753T +79 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 55480	NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)	BRCA1 (R1751* +79 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55461	NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg)	BRCA1 (G1738R +79 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55407	NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu)	BRCA1 (A1708E +78 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55271	NM_007294.4(BRCA1):c.4724del (p.Pro1575fs)	BRCA1 (P1596fs +3 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55103	NM_007294.4(BRCA1):c.4097-2A>G	BRCA1	Single nucleotide variant (splice acceptor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55021	NM_007294.4(BRCA1):c.3839_3843delinsAGGC (p.Ser1280_Gln1281delinsTer)	BRCA1, LOC126862571	Indel (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54972	NM_007294.4(BRCA1):c.3710del (p.Ile1237fs)	BRCA1, LOC126862571 (I1237fs +21 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54957	NM_007294.4(BRCA1):c.3661G>T (p.Glu1221Ter)	BRCA1, LOC126862571 (E1221* +21 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54836	NM_007294.4(BRCA1):c.3319G>T (p.Glu1107Ter)	BRCA1, LOC126862571 (E1107* +20 more)	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54817	NM_007294.4(BRCA1):c.3285del (p.Lys1095fs)	BRCA1, LOC126862571 (K1095fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54789	NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter)	BRCA1 (E1060* +20 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54768	NM_007294.4(BRCA1):c.3084_3094del (p.Asn1029fs)	BRCA1 (N1029fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54763	NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs)	BRCA1 (N1018fs +20 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54646	NM_007294.4(BRCA1):c.2685_2686del (p.Pro897fs)	BRCA1 (P850fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54540	NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter)	BRCA1 (Q780* +20 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54467	NM_007294.4(BRCA1):c.212+3A>G	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic FDA Recognized database
Select item 54226	NM_007294.4(BRCA1):c.1380dup (p.Phe461fs)	BRCA1 (F414fs +20 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54188	NM_007294.4(BRCA1):c.1292dup (p.Leu431fs)	BRCA1 (L384fs +20 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54102	NM_007294.4(BRCA1):c.1016dup (p.Val340fs)	BRCA1 (V340fs +20 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 52667	NM_000059.4(BRCA2):c.8754+1G>A	BRCA2	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 52564	NM_000059.4(BRCA2):c.8363G>A (p.Trp2788Ter)	BRCA2 (W2788*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52418	NM_000059.4(BRCA2):c.7806-2A>G	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52075	NM_000059.4(BRCA2):c.6373del (p.Thr2125fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51952	NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)	BRCA2 (E1953*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51779	NM_000059.4(BRCA2):c.5146_5149del (p.Tyr1716fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51545	NM_000059.4(BRCA2):c.3860del (p.Asn1287fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38192	NM_000059.4(BRCA2):c.8904del (p.Val2969fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38099	NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)	BRCA2 (R2494*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37960	NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs)	BRCA2 (N1784fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37859	NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37826	NM_000059.4(BRCA2):c.3170_3174del (p.Lys1057fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37769	NM_000059.4(BRCA2):c.1929del (p.Arg645fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37762	NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)	BRCA2 (I605fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37712	NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter)	BRCA1 (W321* +20 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37616	NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs)	BRCA1 (S551fs +3 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37581	NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter)	BRCA1 (E143* +6 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37566	NM_007294.4(BRCA1):c.4096+3A>G	BRCA1, LOC126862571	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 37560	NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)	BRCA1, LOC126862571 (E1299fs +21 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37542	NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)	BRCA1, LOC126862571 (V1234fs +21 more)	Microsatellite (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37531	NM_007294.4(BRCA1):c.3485del (p.Asp1162fs)	BRCA1, LOC126862571 (D1115fs +21 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37472	NM_007294.4(BRCA1):c.2475del (p.Asp825fs)	BRCA1 (D778fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37426	NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)	BRCA1 (Q563* +20 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 17685	NM_007294.4(BRCA1):c.1556del (p.Lys519fs)	BRCA1 (K472fs +20 more)	Deletion (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 17684	NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs)	BRCA1, LOC126862571 (E1114fs +21 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 17677	NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)	BRCA1 (Q1756fs +3 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 17675	NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)	BRCA1 (R1443* +58 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 17673	NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)	BRCA1, LOC126862571 (S1253fs +21 more)	Microsatellite (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 17667	NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs)	BRCA1 (K894fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 17662	NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)	BRCA1 (E23fs)	Microsatellite (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic FDA Recognized database
Select item 17661	NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)	BRCA1 (C61G +1 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 9328	NM_000059.4(BRCA2):c.8537_8538del (p.Glu2846fs)	BRCA2 (E2846fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9325	NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)	BRCA2 (S1982fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic FDA Recognized database
Select item 9322	NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)	BRCA2 (A938fs)	Deletion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9318	NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic

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Items: 61