"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CLPB"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 187786	NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter)	CLPB, LOC126861258 (R417* +3 more)	Single nucleotide variant (nonsense)	Neutropenia, severe congenital, 9, autosomal dominant +3 more	GPathogenic
Select item 187785	NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)	CLPB, LOC126861258 (R408G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 571670	NM_001258392.3(CLPB):c.844A>G (p.Met282Val)	CLPB (M312V +3 more)	Single nucleotide variant (missense variant)	CLPB-related disorder +3 more	GUncertain significance
Select item 573047	NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly)	CLPB (R280G +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +2 more	GUncertain significance
Select item 235218	NM_030813.6(CLPB):c.668G>A (p.Ser223Asn)	CLPB (S223N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 644249	NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg)	CLPB, LOC130006336 (G72R)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIA +2 more	GUncertain significance

ClinVar