ClinVar for PubMed (Select 29433453) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1425636	NM_007294.4(BRCA1):c.4096+2T>C	BRCA1, LOC126862571	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GUncertain significance
Select item 832729	NC_000017.11:g.(?_43099755)_(43125483_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 52814	NM_000059.4(BRCA2):c.9317G>A (p.Trp3106Ter)	BRCA2 (W3106*)	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 52153	NM_000059.4(BRCA2):c.6676_6677del (p.Glu2226fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51041	NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)	BRCA2 (E34*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38038	NM_000059.4(BRCA2):c.6333_6337del (p.Arg2112fs)	BRCA2 (R2112fs)	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 37691	NM_007294.4(BRCA1):c.66dup (p.Glu23fs)	BRCA1 (E23fs)	Duplication (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37565	NM_007294.4(BRCA1):c.4096+1G>A	BRCA1, LOC126862571	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
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 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 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 9347	NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter)	BRCA2 (Q3066*)	Single nucleotide variant (nonsense)	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