ClinVar for OMIM (Select 312060) - ClinVar - NCBI

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Items: 10

	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 1177511	NM_001145252.3(CFP):c.643G>A (p.Glu215Lys)	CFP (E215K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1019416	NM_001145252.3(CFP):c.470G>A (p.Arg157Gln)	CFP (R157Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 973631	NM_001145252.3(CFP):c.476G>A (p.Arg159His)	CFP (R159H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 827996	NM_001145252.3(CFP):c.716C>T (p.Pro239Leu)	CFP (P239L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 11185	NM_001145252.3(CFP):c.1240T>G (p.Tyr414Asp)	CFP (Y414D)	Single nucleotide variant (missense variant)	Properdin deficiency, type III	GPathogenic
Select item 11184	NM_001145252.3(CFP):c.617C>G (p.Ser206Ter)	CFP (S206*)	Single nucleotide variant (nonsense)	Properdin deficiency, X-linked	GPathogenic
Select item 11183	NM_001145252.3(CFP):c.893G>T (p.Gly298Val)	CFP (G298V)	Single nucleotide variant (missense variant)	Properdin deficiency, X-linked	GPathogenic
Select item 11182	NM_001145252.3(CFP):c.298C>T (p.Arg100Trp)	CFP (R100W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 11181	NM_001145252.3(CFP):c.481C>T (p.Arg161Ter)	CFP (R161*)	Single nucleotide variant (nonsense)	Properdin deficiency, X-linked	GPathogenic