Related gene-specific medical variations for Gene (Select 5199) - ClinVar

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

Format

Sort by

Choose Destination

Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065206	NM_001145252.3(CFP):c.767-2A>T	CFP	Single nucleotide variant (splice acceptor variant)	Properdin deficiency, X-linked	GLikely pathogenic
Select item 1319184	NM_001145252.3(CFP):c.305G>A (p.Arg102Gln)	CFP (R102Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance