C2676676[trait identifier] AND "Unidad Asesoramiento Genetico Oncologi - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 55396	NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)	BRCA1 (R1699W +78 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55091	NM_007294.4(BRCA1):c.4057_4061del (p.Glu1352_Glu1353insTer)	BRCA1, LOC126862571	Deletion (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37531	NM_007294.4(BRCA1):c.3485del (p.Asp1162fs)	BRCA1, LOC126862571 (D1115fs +21 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 441377	NM_007294.4(BRCA1):c.2960_2964del (p.Lys987fs)	BRCA1 (K940fs +20 more)	Deletion (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54423	NM_007294.4(BRCA1):c.1969C>T (p.Gln657Ter)	BRCA1 (Q657* +20 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 254388	NM_007294.4(BRCA1):c.1044T>A (p.Cys348Ter)	BRCA1 (C348* +20 more)	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55420	NM_007294.4(BRCA1):c.514C>T (p.Gln172Ter)	BRCA1 (Q172* +11 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic

ClinVar