"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "BRIP1"[gen - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 891958	NM_032043.3(BRIP1):c.*4040T>A	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J +1 more	GConflicting classifications of pathogenicity
Select item 324293	NM_032043.3(BRIP1):c.*3489T>C	BRIP1	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group J +1 more	GConflicting classifications of pathogenicity
Select item 2648000	NM_032043.3(BRIP1):c.2809_2815dup	BRIP1	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 136580	NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)	BRIP1	Single nucleotide variant (synonymous variant)	Neoplasm of ovary +6 more	GConflicting classifications of pathogenicity
Select item 3026733	NM_032043.3(BRIP1):c.3353del (p.Asn1118fs)	BRIP1 (N1118fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 230092	NM_032043.3(BRIP1):c.3336T>C (p.Asp1112=)	BRIP1	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group J +6 more	GBenign/Likely benign
Select item 871754	NM_032043.3(BRIP1):c.3284C>G (p.Ser1095Cys)	BRIP1 (S1095C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 140819	NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)	BRIP1 (R1035C)	Single nucleotide variant (missense variant)	Neoplasm of ovary +7 more	GConflicting classifications of pathogenicity
Select item 822688	NM_032043.3(BRIP1):c.3039T>C (p.Thr1013=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 216796	NM_032043.3(BRIP1):c.3039T>A (p.Thr1013=)	BRIP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 136579	NM_032043.3(BRIP1):c.2937A>G (p.Lys979=)	BRIP1	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 241642	NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)	BRIP1	Deletion (nonsense)	Fanconi anemia complementation group J +4 more	GPathogenic/Likely pathogenic
Select item 623934	NM_032043.3(BRIP1):c.2648A>C (p.Glu883Ala)	BRIP1 (E883A)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +3 more	GUncertain significance
Select item 1906037	NM_032043.3(BRIP1):c.2519G>A (p.Gly840Glu)	BRIP1 (G840E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 234220	NM_032043.3(BRIP1):c.2498T>C (p.Ile833Thr)	BRIP1 (I833T)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 4738	NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	BRIP1 (R798*)	Single nucleotide variant (nonsense)	Fanconi anemia +9 more	GPathogenic/Likely pathogenic
Select item 2570993	NM_032043.3(BRIP1):c.2379+3737A>C	BRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 234579	NM_032043.3(BRIP1):c.2365G>T (p.Val789Leu)	BRIP1 (V789L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 136575	NM_032043.3(BRIP1):c.2286T>C (p.Arg762=)	BRIP1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 128170	NM_032043.3(BRIP1):c.2273dup (p.Ala759fs)	BRIP1 (A759fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 133752	NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)	BRIP1 (Q740H)	Single nucleotide variant (missense variant)	Neoplasm of ovary +8 more	GConflicting classifications of pathogenicity
Select item 136147	NM_032043.3(BRIP1):c.2097+7G>A	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +6 more	GConflicting classifications of pathogenicity
Select item 2648001	NM_032043.3(BRIP1):c.2052C>T (p.Cys684=)	BRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 128166	NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs)	BRIP1 (L680fs)	Duplication (frameshift variant)	Familial cancer of breast +4 more	GPathogenic/Likely pathogenic
Select item 231114	NM_032043.3(BRIP1):c.1899C>G (p.Ile633Met)	BRIP1 (I633M)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GUncertain significance
Select item 128162	NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)	BRIP1 (R579C)	Single nucleotide variant (missense variant)	BRIP1-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 2578793	NM_032043.3(BRIP1):c.1502_1503del (p.Glu501fs)	BRIP1 (E501fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 419651	NM_032043.3(BRIP1):c.1432C>T (p.His478Tyr)	BRIP1 (H478Y)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 184786	NM_032043.3(BRIP1):c.984C>T (p.Phe328=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 128195	NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)	BRIP1 (R264W)	Single nucleotide variant (missense variant)	BRIP1-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 2648002	NM_032043.3(BRIP1):c.627+1284G>T	BRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1013137	NM_032043.3(BRIP1):c.627+2T>C	BRIP1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 231693	NM_032043.3(BRIP1):c.618G>A (p.Ser206=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +4 more	GLikely benign
Select item 128193	NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)	BRIP1 (L195P)	Single nucleotide variant (missense variant)	BRIP1-related disorder +7 more	GBenign/Likely benign
Select item 128192	NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)	BRIP1 (V193I)	Single nucleotide variant (missense variant)	Familial cancer of breast +7 more	GBenign/Likely benign
Select item 143021	NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr)	BRIP1 (D184Y)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 133761	NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)	BRIP1 (R173C)	Single nucleotide variant (missense variant)	Neoplasm of ovary +6 more	GConflicting classifications of pathogenicity
Select item 234221	NM_032043.3(BRIP1):c.507G>A (p.Gln169=)	BRIP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely pathogenic
Select item 481644	NM_032043.3(BRIP1):c.426A>G (p.Lys142=)	BRIP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 184212	NM_032043.3(BRIP1):c.297C>T (p.Asp99=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +6 more	GBenign/Likely benign
Select item 141545	NM_032043.3(BRIP1):c.254C>T (p.Ser85Leu)	BRIP1 (S85L)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 187396	NM_032043.3(BRIP1):c.206-2A>G	BRIP1	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 182358	NM_032043.3(BRIP1):c.195A>G (p.Gln65=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +5 more	GBenign/Likely benign
Select item 4736	NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)	BRIP1 (P47A)	Single nucleotide variant (missense variant)	BRIP1-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 136582	NM_032043.3(BRIP1):c.36G>T (p.Gly12=)	BRIP1	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 479411	NM_032043.3(BRIP1):c.33T>C (p.Gly11=)	BRIP1	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 1217246	NM_032043.3(BRIP1):c.-4C>T	BRIP1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance

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Items: 47