"Yang An-Suei Laboratory, Academia Sinica"[submitter] AND "BRCA2"[gene - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 430603	NM_000059.4(BRCA2):c.-5_11del (p.Met1fs)	BRCA2 (M1fs)	Deletion (frameshift variant +1 more)	Breast neoplasm	GPathogenic
Select item 548381	NM_000059.4(BRCA2):c.800dup (p.Thr269fs)	BRCA2 (T269fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 430601	NM_000059.4(BRCA2):c.857C>G (p.Ser286Ter)	BRCA2 (S286*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 236835	NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter)	BRCA2 (Q699*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 430600	NM_000059.4(BRCA2):c.2754del (p.Asn918fs)	BRCA2 (N918fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 266732	NM_000059.4(BRCA2):c.2990T>G (p.Leu997Ter)	BRCA2 (L997*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 430599	NM_000059.4(BRCA2):c.3322A>T (p.Lys1108Ter)	BRCA2 (K1108*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 252424	NM_000059.4(BRCA2):c.3883C>T (p.Gln1295Ter)	BRCA2 (Q1295*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 430598	NM_000059.4(BRCA2):c.8206del (p.Leu2736fs)	BRCA2 (L2736fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 430597	NM_000059.4(BRCA2):c.8400_8402delinsAAAA (p.Phe2801fs)	BRCA2 (F2801fs)	Indel (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic