"Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del L - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 37943	NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)	BRCA2 (W1692fs)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 2579115	NM_000059.4(BRCA2):c.9730_9731del (p.Val3244fs)	BRCA2 (V1105fs +4 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic