"GeneReviews"[submitter] AND "CLPB"[gene] - ClinVar

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

Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 279613	NM_001258392.3(CLPB):c.1955T>A (p.Ile652Asn)	CLPB (I682N +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	Gnot provided
Select item 279612	NM_001258392.3(CLPB):c.1847dup (p.Cys617fs)	CLPB (C588fs +3 more)	Duplication (frameshift variant)	3-methylglutaconic aciduria, type VIIB	Gnot provided
Select item 187781	NM_001258392.3(CLPB):c.1847G>T (p.Gly616Val)	CLPB (G646V +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GPathogenic
Select item 279611	NM_001258392.3(CLPB):c.1825G>A (p.Glu609Lys)	CLPB (E639K +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	Gnot provided
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 187784	NM_001258392.3(CLPB):c.1760A>G (p.Tyr587Cys)	CLPB (Y617C +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GPathogenic
Select item 187782	NM_001258392.3(CLPB):c.1682C>T (p.Ala561Val)	CLPB (A591V +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GPathogenic
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 192392	NM_001258392.3(CLPB):c.1595del (p.Ile532fs)	CLPB (I503fs +3 more)	Deletion (frameshift variant)	3-methylglutaconic aciduria, type VIIB	GPathogenic
Select item 279608	NM_001258392.3(CLPB):c.1411G>A (p.Glu471Lys)	CLPB (E501K +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 279607	NM_001258392.3(CLPB):c.1366T>C (p.Cys456Arg)	CLPB (C486R +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	Gnot provided
Select item 187780	NM_001258392.3(CLPB):c.1215_1217inv (p.Glu405_Gly406delinsAspPro)	CLPB, LOC126861258	Inversion (missense variant)	3-methylglutaconic aciduria, type VIIB	GPathogenic
Select item 187786	NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter)	LOC126861258, CLPB (R417* +3 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 187783	NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile)	CLPB, LOC126861258 (M411I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 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 187788	NM_001258392.3(CLPB):c.871A>T (p.Lys291Ter)	CLPB (K321* +3 more)	Single nucleotide variant (nonsense)	3-methylglutaconic aciduria, type VIIB	GPathogenic
Select item 279606	NM_001258392.3(CLPB):c.725A>G (p.Tyr242Cys)	CLPB (Y272C +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 279605	NM_001258392.3(CLPB):c.715G>A (p.Ala239Thr)	CLPB (A269T +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 187787	NM_001258392.3(CLPB):c.713C>T (p.Thr238Met)	CLPB (T268M +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GPathogenic
Select item 279604	NM_001258392.3(CLPB):c.658C>T (p.Arg220Ter)	CLPB (R250* +3 more)	Single nucleotide variant (nonsense)	3-methylglutaconic aciduria, type VIIB	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 20