ClinVar for PubMed (Select 27425403) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2137471	NM_000059.4(BRCA2):c.2505dup (p.Pro836fs)	BRCA2 (P836fs)	Duplication (frameshift variant)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 949796	NM_007294.4(BRCA1):c.4663del (p.Arg1555fs)	BRCA1 (R1508fs +3 more)	Deletion (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 491087	NM_007294.4(BRCA1):c.4736_4739del (p.Pro1579fs)	BRCA1 (P1532fs +3 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +2 more	GPathogenic
Select item 267047	NM_000059.4(BRCA2):c.7987del (p.Glu2663fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 156189	NM_007294.4(BRCA1):c.273_274del (p.Ala92fs)	BRCA1 (A45fs +1 more)	Microsatellite (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55705	NM_007294.4(BRCA1):c.791_794del (p.Ser264fs)	BRCA1 (S217fs +19 more)	Deletion (intron variant +3 more)	Hereditary breast ovarian cancer syndrome +3 more	GPathogenic
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 55125	NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)	BRCA1 (Q1395* +48 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54929	NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)	BRCA1, LOC126862571 (Q1200* +21 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54309	NM_007294.4(BRCA1):c.1612C>T (p.Gln538Ter)	BRCA1 (Q538* +20 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 52694	NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter)	BRCA2 (Q2960*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52149	NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter)	BRCA2 (S2219*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51070	NM_000059.4(BRCA2):c.1138del (p.Ser380fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38043	NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs)	BRCA2 (N2135fs)	Deletion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37644	NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs)	BRCA1 (R1747fs +3 more)	Microsatellite (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37584	NM_007294.4(BRCA1):c.4357+1G>A	BRCA1	Single nucleotide variant (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37523	NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs)	BRCA1, LOC126862571 (Q1064fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37516	NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)	BRCA1, LOC126862571 (G1077fs +20 more)	Microsatellite (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 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 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

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Items: 22