"Institute for Medical Genetics and Human Genetics, Charité - Universi - 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 1708504	NM_001018115.3(FANCD2):c.2606-9A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2	GUncertain significance
Select item 1708505	NM_001018115.3(FANCD2):c.3713T>A (p.Met1238Lys)	FANCD2, FANCD2OS (M1201K +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group D2	GUncertain significance