C1836860[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374030	NM_032043.3(BRIP1):c.3413A>G (p.Asp1138Gly)	BRIP1 (D1138G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
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 186015	NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln)	BRIP1 (R865Q)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 133752	NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)	BRIP1 (Q740H)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 932097	NM_032043.3(BRIP1):c.1670C>T (p.Ser557Phe)	BRIP1 (S557F)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 128153	NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)	BRIP1 (R419W)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +8 more	GConflicting classifications of pathogenicity
Select item 461056	NM_032043.3(BRIP1):c.1031G>A (p.Gly344Glu)	BRIP1 (G344E)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 141590	NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr)	BRIP1 (I243T)	Single nucleotide variant (missense variant)	Hereditary cancer +5 more	GConflicting classifications of pathogenicity
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 4736	NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)	BRIP1 (P47A)	Single nucleotide variant (missense variant)	Neoplasm of ovary +7 more	GConflicting classifications of pathogenicity