"Institute of Human Genetics, Medical University Innsbruck"[submitter] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 183182	NM_000059.4(BRCA2):c.712G>T (p.Glu238Ter)	BRCA2 (E238*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37762	NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)	BRCA2 (I605fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9322	NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)	BRCA2 (A938fs)	Deletion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 182196	NM_000059.4(BRCA2):c.3172A>T (p.Lys1058Ter)	BRCA2 (K1058*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51444	NM_000059.4(BRCA2):c.3283C>T (p.Gln1095Ter)	BRCA2 (Q1095*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37846	NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37859	NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51562	NM_000059.4(BRCA2):c.3915del (p.Phe1305fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37957	NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 183184	NM_000059.4(BRCA2):c.5390del (p.Ala1797fs)	BRCA2 (A1797fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37984	NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)	BRCA2 (S1882*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38007	NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter)	BRCA2 (S1970*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51971	NM_000059.4(BRCA2):c.5952dup (p.Ser1985fs)	BRCA2 (S1985fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52030	NM_000059.4(BRCA2):c.6202dup (p.Ile2068fs)	BRCA2 (I2068fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38043	NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs)	BRCA2 (N2135fs)	Deletion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 183185	NM_000059.4(BRCA2):c.7266T>A (p.Cys2422Ter)	BRCA2 (C2422*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52425	NM_000059.4(BRCA2):c.7846del (p.Ser2616fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38125	NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)	BRCA2 (W2626C)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52564	NM_000059.4(BRCA2):c.8363G>A (p.Trp2788Ter)	BRCA2 (W2788*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38161	NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg)	BRCA2 (Q2829R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 38183	NM_000059.4(BRCA2):c.8755-1G>A	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52754	NM_000059.4(BRCA2):c.9117+1G>A	BRCA2	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 52826	NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)	BRCA2 (R3128*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic

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Items: 23