"Genetics and Molecular Pathology, SA Pathology"[submitter] AND "LOC12 - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17674	NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)	BRCA1, LOC126862571 (N1355fs +21 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55013	NM_007294.4(BRCA1):c.3813dup (p.Asn1272Ter)	BRCA1, LOC126862571 (N1272* +21 more)	Duplication (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 17673	NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)	BRCA1, LOC126862571 (S1253fs +21 more)	Microsatellite (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37543	NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu)	BRCA1, LOC126862571 (P1238L +21 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 91612	NM_007294.4(BRCA1):c.3672del (p.Cys1225fs)	BRCA1, LOC126862571 (C1178fs +21 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 41816	NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu)	BRCA1, LOC126862571 (P1099L +20 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign

ClinVar