C1836860[trait identifier] AND "St. Jude Molecular Pathology, St. Jude - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 571344	NM_032043.3(BRIP1):c.3529A>C (p.Lys1177Gln)	BRIP1 (K1177Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 386142	NM_032043.3(BRIP1):c.3461G>C (p.Arg1154Thr)	BRIP1 (R1154T)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 386141	NM_032043.3(BRIP1):c.3389T>C (p.Ile1130Thr)	BRIP1 (I1130T)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 407862	NM_032043.3(BRIP1):c.3353A>G (p.Asn1118Ser)	BRIP1 (N1118S)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 186283	NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu)	BRIP1 (P1017L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +5 more	GConflicting classifications of pathogenicity
Select item 861185	NM_032043.3(BRIP1):c.2974A>T (p.Thr992Ser)	BRIP1 (T992S)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 182336	NM_032043.3(BRIP1):c.2935A>G (p.Lys979Glu)	BRIP1 (K979E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 142113	NM_032043.3(BRIP1):c.2863A>C (p.Asn955His)	BRIP1 (N955H)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GUncertain significance
Select item 128175	NM_032043.3(BRIP1):c.2564G>A (p.Arg855His)	BRIP1 (R855H)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 4738	NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	BRIP1 (R798*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +9 more	GPathogenic/Likely pathogenic
Select item 128169	NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr)	BRIP1 (A745T)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 921864	NM_032043.3(BRIP1):c.2170A>C (p.Ile724Leu)	BRIP1 (I724L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +2 more	GUncertain significance
Select item 128167	NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu)	BRIP1 (P696L)	Single nucleotide variant (missense variant)	Familial cancer of breast +6 more	GUncertain significance
Select item 187476	NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter)	BRIP1 (E671*)	Duplication (nonsense)	Fanconi anemia complementation group J +5 more	GPathogenic
Select item 186270	NM_032043.3(BRIP1):c.1831G>A (p.Val611Ile)	BRIP1 (V611I)	Single nucleotide variant (missense variant)	Neoplasm of ovary +4 more	GConflicting classifications of pathogenicity
Select item 232167	NM_032043.3(BRIP1):c.1688A>G (p.Asp563Gly)	BRIP1 (D563G)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 186309	NM_032043.3(BRIP1):c.1641T>G (p.Asp547Glu)	BRIP1 (D547E)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 407827	NM_032043.3(BRIP1):c.1607A>G (p.Tyr536Cys)	BRIP1 (Y536C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 128153	NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)	BRIP1 (R419W)	Single nucleotide variant (missense variant)	Familial cancer of breast +8 more	GConflicting classifications of pathogenicity
Select item 407821	NM_032043.3(BRIP1):c.1216G>T (p.Ala406Ser)	BRIP1 (A406S)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 30535	NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)	BRIP1 (A349P)	Single nucleotide variant (missense variant)	Familial cancer of breast +6 more	GPathogenic/Likely pathogenic
Select item 142179	NM_032043.3(BRIP1):c.854A>G (p.His285Arg)	BRIP1 (H285R)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 132712	NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala)	BRIP1 (S139A)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 141947	NM_032043.3(BRIP1):c.380-5A>G	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 140945	NM_032043.3(BRIP1):c.256TGT[2] (p.Cys88del)	BRIP1 (C88del)	Microsatellite (inframe_deletion)	Familial cancer of breast +4 more	GUncertain significance
Select item 230053	NM_032043.3(BRIP1):c.205G>A (p.Gly69Arg)	BRIP1 (G69R)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance

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Items: 26