ClinVar for PubMed (Select 22430266) - ClinVar

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Items: 24

	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 91591	NM_007294.4(BRCA1):c.250G>T (p.Glu84Ter)	BRCA1 (E84* +4 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55326	NM_007294.4(BRCA1):c.4941del (p.Asn1647fs)	BRCA1 (N1647fs +3 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54656	NM_007294.4(BRCA1):c.2719_2722del (p.Glu907fs)	BRCA1 (E860fs +20 more)	Deletion (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 52671	NM_000059.4(BRCA2):c.8754G>A (p.Glu2918=)	BRCA2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 52180	NM_000059.4(BRCA2):c.6768T>A (p.Cys2256Ter)	BRCA2 (C2256*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52018	NM_000059.4(BRCA2):c.6129dup (p.Gly2044fs)	BRCA2 (G2044fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52017	NM_000059.4(BRCA2):c.6124C>T (p.Gln2042Ter)	BRCA2 (Q2042*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51814	NM_000059.4(BRCA2):c.51_52del (p.Arg18fs)	BRCA2 (R18fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51775	NM_000059.4(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51453	NM_000059.4(BRCA2):c.3362C>G (p.Ser1121Ter)	BRCA2 (S1121*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38077	NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)	BRCA2 (R2336H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38015	NM_000059.4(BRCA2):c.6024dup (p.Gln2009fs)	BRCA2 (Q2009fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37999	NM_000059.4(BRCA2):c.5828del (p.Ser1943fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37954	NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)	BRCA2 (N1747*)	Duplication (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37935	NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37846	NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37544	NM_007294.4(BRCA1):c.3759_3760del (p.Lys1254fs)	BRCA1, LOC126862571 (K1207fs +21 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37451	NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter)	BRCA1 (S713* +20 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37449	NM_007294.4(BRCA1):c.213-11T>G	BRCA1	Single nucleotide variant (intron variant)	not provided +4 more	GPathogenic
Select item 37435	NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs)	BRCA1 (K606fs +20 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 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 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

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Items: 24