ClinVar for PubMed (Select 22009639) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 438781	NM_007294.4(BRCA1):c.68_70del (p.Glu23_Cys24delinsGly)	BRCA1	Deletion (inframe_indel +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 266973	NM_000059.4(BRCA2):c.6730A>T (p.Lys2244Ter)	BRCA2 (K2244*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 266694	NM_000059.4(BRCA2):c.2278_2279del (p.Leu760fs)	BRCA2 (L760fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 55221	NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)	BRCA1 (W1508* +75 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55145	NM_007294.4(BRCA1):c.4222C>T (p.Gln1408Ter)	BRCA1 (Q1408* +58 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54252	NM_007294.4(BRCA1):c.1439dup (p.Asn480fs)	BRCA1 (N433fs +20 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 52829	NM_000059.4(BRCA2):c.93G>A (p.Trp31Ter)	BRCA2 (W31*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52493	NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter)	BRCA2 (C2689*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52353	NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter)	BRCA2 (R2520*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52058	NM_000059.4(BRCA2):c.631G>A (p.Val211Ile)	BRCA2 (V211I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 51134	NM_000059.4(BRCA2):c.1496_1497del (p.Gln499fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38190	NM_000059.4(BRCA2):c.8869C>T (p.Gln2957Ter)	BRCA2 (Q2957*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37984	NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)	BRCA2 (S1882*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37936	NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)	BRCA2 (Y1655*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37889	NM_000059.4(BRCA2):c.4222C>T (p.Gln1408Ter)	BRCA2 (Q1408*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37756	NM_000059.4(BRCA2):c.1794_1798del	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37754	NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	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 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 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 17672	NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter)	BRCA1, LOC126862571 (E1250* +21 more)	Single nucleotide variant (nonsense +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 9349	NM_000059.4(BRCA2):c.631+2T>G	BRCA2	Single nucleotide variant (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9342	NM_000059.4(BRCA2):c.658_659del (p.Val220fs)	BRCA2	Deletion (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 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: 26