"ITMI"[submitter] AND "BRIP1"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133759	NM_032043.3(BRIP1):c.3701T>G (p.Phe1234Cys)	BRIP1 (F1234C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 133758	NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)	BRIP1 (D1148E)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 133757	NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly)	BRIP1 (V935G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +7 more	GConflicting classifications of pathogenicity
Select item 133756	NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro)	BRIP1 (S919P)	Single nucleotide variant (missense variant)	Ovarian neoplasm +6 more	GBenign
Select item 133755	NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)	BRIP1 (R814C)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +7 more	GConflicting classifications of pathogenicity
Select item 133753	NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)	BRIP1 (N775S)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +7 more	GConflicting classifications of pathogenicity
Select item 133754	NM_032043.3(BRIP1):c.2284C>T (p.Arg762Cys)	BRIP1 (R762C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 133751	NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val)	BRIP1 (I746V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign/Likely benign
Select item 133752	NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)	BRIP1 (Q740H)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 128166	NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs)	BRIP1 (L680fs)	Duplication (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 133750	NM_032043.3(BRIP1):c.2012A>G (p.Glu671Gly)	BRIP1 (E671G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 133748	NM_032043.3(BRIP1):c.1742G>A (p.Arg581Gln)	BRIP1 (R581Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 133746	NM_032043.3(BRIP1):c.1727dup (p.Asn576fs)	BRIP1 (N576fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 133747	NM_032043.3(BRIP1):c.1727A>G (p.Asn576Ser)	BRIP1 (N576S)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 133745	NM_032043.3(BRIP1):c.1586G>A (p.Gly529Glu)	BRIP1 (G529E)	Single nucleotide variant (missense variant)	Ovarian neoplasm +4 more	GUncertain significance
Select item 128157	NM_032043.3(BRIP1):c.1433A>G (p.His478Arg)	BRIP1 (H478R)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 128153	NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)	BRIP1 (R419W)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 30535	NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)	BRIP1 (A349P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
Select item 133763	NM_032043.3(BRIP1):c.964C>T (p.Gln322Ter)	BRIP1 (Q322*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic
Select item 133762	NM_032043.3(BRIP1):c.932del (p.Tyr311fs)	BRIP1 (Y311fs)	Deletion (frameshift variant)	Familial cancer of breast +2 more	GPathogenic
Select item 128198	NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)	BRIP1 (K297R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +6 more	GConflicting classifications of pathogenicity
Select item 128195	NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)	BRIP1 (R264W)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 128193	NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)	BRIP1 (L195P)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 128192	NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)	BRIP1 (V193I)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 133761	NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)	BRIP1 (R173C)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 133760	NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr)	BRIP1 (A144T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign

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Items: 26