"Genome-Nilou Lab"[submitter] AND "LOC107303338"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 342255	NM_001018115.3(FANCD2):c.378-6_378-5del	FANCD2, LOC107303338	Deletion (intron variant)	Fanconi anemia +2 more	GBenign/Likely benign
Select item 257083	NM_001018115.3(FANCD2):c.439-16A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +4 more	GBenign
Select item 257086	NM_001018115.3(FANCD2):c.695+16G>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +4 more	GBenign
Select item 257087	NM_001018115.3(FANCD2):c.784-19C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 257088	NM_001018115.3(FANCD2):c.990-38C>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +3 more	GBenign
Select item 257067	NM_001018115.3(FANCD2):c.1413+38A>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +3 more	GBenign
Select item 134315	NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu)	FANCD2, LOC107303338 (P714L +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GBenign/Likely benign
Select item 257074	NM_001018115.3(FANCD2):c.2270-28G>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +2 more	GBenign
Select item 257077	NM_001018115.3(FANCD2):c.2976+36T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided +3 more	GBenign