"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 136147	NM_032043.3(BRIP1):c.2097+7G>A	BRIP1	Single nucleotide variant (intron variant)	not specified +6 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 216128	NM_032043.3(BRIP1):c.1236del (p.Val413fs)	BRIP1 (V413fs)	Deletion (frameshift variant)	Familial cancer of breast +3 more	GPathogenic
Select item 136583	NM_032043.3(BRIP1):c.918+15T>A	BRIP1	Single nucleotide variant (intron variant)	Fanconi anemia complementation group J +7 more	GBenign/Likely benign
Select item 128198	NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)	BRIP1 (K297R)	Single nucleotide variant (missense variant)	Ovarian neoplasm +6 more	GConflicting classifications of pathogenicity
Select item 230750	NM_032043.3(BRIP1):c.618G>T (p.Ser206=)	BRIP1	Single nucleotide variant (synonymous variant)	not specified +3 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)	Familial cancer of breast +7 more	GBenign/Likely benign
Select item 262008	NM_032043.3(BRIP1):c.94-18T>G	BRIP1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +6 more	GBenign