"Baylor Genetics"[submitter] AND "CLPB"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029981	NM_001258392.3(CLPB):c.1870G>C (p.Glu624Gln)	CLPB (E624Q +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1032238	NM_001258392.3(CLPB):c.1840C>G (p.Pro614Ala)	CLPB (P644A +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1032237	NM_001258392.3(CLPB):c.1803G>A (p.Val601=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GConflicting classifications of pathogenicity
Select item 279610	NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)	CLPB (R628C +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +2 more	GConflicting classifications of pathogenicity
Select item 1029980	NM_001258392.3(CLPB):c.1666T>A (p.Phe556Ile)	CLPB (F527I +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 279609	NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys)	CLPB (Y567C +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +1 more	GConflicting classifications of pathogenicity
Select item 187785	NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)	CLPB, LOC126861258 (R408G +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +4 more	GPathogenic/Likely pathogenic
Select item 576056	NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly)	CLPB (E333G +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +1 more	GConflicting classifications of pathogenicity
Select item 2136144	NM_001258392.3(CLPB):c.790C>T (p.Gln264Ter)	CLPB (Q249* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1300024	NM_001258392.3(CLPB):c.455+1G>A	CLPB	Single nucleotide variant (splice donor variant)	3-methylglutaconic aciduria, type VIIB	GLikely pathogenic
Select item 570993	NM_001258392.3(CLPB):c.441G>C (p.Met147Ile)	CLPB (M147I +1 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1029982	NM_001258392.3(CLPB):c.259A>T (p.Thr87Ser)	CLPB, LOC130006336 (H6L +1 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance