"deCODE genetics, Amgen"[submitter] AND "BRCA1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 37632	NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn)	BRCA1 (D1692N +79 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +3 more	GPathogenic/Likely pathogenic
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 55082	NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs)	BRCA1, LOC126862571 (G1348fs +21 more)	Microsatellite (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 266368	NM_007294.4(BRCA1):c.3413dup (p.Ser1139fs)	BRCA1, LOC126862571 (S1092fs +21 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55772	NM_007294.4(BRCA1):c.981_982del (p.Thr327_Cys328insTer)	BRCA1	Deletion (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 431198	NM_007294.4(BRCA1):c.386del (p.Gly129fs)	BRCA1 (G82fs +1 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic

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