"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "CLPB"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 644706	NM_001258392.3(CLPB):c.1958T>C (p.Ile653Thr)	CLPB (I638T +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3373423	NM_001258392.3(CLPB):c.917G>T (p.Arg306Leu)	CLPB (R277L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 542777	NM_001258392.3(CLPB):c.889C>T (p.Arg297Trp)	CLPB (R327W +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +1 more	GUncertain significance
Select item 2683667	NM_001258392.3(CLPB):c.874-2A>G	CLPB	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3381070	NM_001258392.3(CLPB):c.622G>T (p.Glu208Ter)	CLPB (E163* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1060390	NM_001258392.3(CLPB):c.189C>G (p.Phe63Leu)	CLPB, LOC130006336 (F63L)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB +1 more	GConflicting classifications of pathogenicity

ClinVar