C0677776[trait identifier] AND "Lab of Molecular Oncology, Sapienza Un - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 598740	NM_000059.4(BRCA2):c.72del (p.Gly25fs)	BRCA2 (G25fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 916541	NM_000059.4(BRCA2):c.682-2del	BRCA2	Deletion (splice acceptor variant)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 598936	NM_007294.4(BRCA1):c.5277+2249_5406+545del	BRCA1	Deletion (splice acceptor variant +2 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 598937	NM_007294.4(BRCA1):c.5194-453_5278-2299del	BRCA1	Deletion (splice acceptor variant +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 598935	NM_007294.4(BRCA1):c.4675+1532_5074+963del	BRCA1	Deletion (splice acceptor variant +2 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 599302	NM_007294.4(BRCA1):c.5073A>T (p.Thr1691=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic

ClinVar