"Baylor Genetics"[submitter] AND "LOC130005443"[gene] - 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 3241589	NM_022725.4(FANCF):c.1018G>T (p.Glu340Ter)	FANCF, LOC130005443 (E340*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 666159	NM_022725.4(FANCF):c.943dup (p.Cys315fs)	FANCF, LOC130005443 (C315fs)	Duplication (frameshift variant)	Fanconi anemia complementation group F +1 more	GConflicting classifications of pathogenicity