"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CLPB"[gene - ClinVar

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

Search results

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 384218	NM_001258392.3(CLPB):c.2026A>G (p.Thr676Ala)	CLPB (T706A +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +1 more	GBenign
Select item 542779	NM_001258392.3(CLPB):c.1993C>T (p.Arg665Trp)	CLPB (R695W +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +2 more	GBenign/Likely benign
Select item 1006915	NM_001258392.3(CLPB):c.1969A>T (p.Ser657Cys)	CLPB (S628C +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +1 more	GUncertain significance
Select item 2642119	NM_001258392.3(CLPB):c.1835T>G (p.Leu612Arg)	CLPB (L583R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 476193	NM_001258392.3(CLPB):c.1704G>A (p.Thr568=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB +1 more	GLikely benign
Select item 493096	NM_001258392.3(CLPB):c.1703C>T (p.Thr568Met)	CLPB (T598M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 642319	NM_001258392.3(CLPB):c.1570C>T (p.Arg524Trp)	CLPB (R524W +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +2 more	GUncertain significance
Select item 476192	NM_001258392.3(CLPB):c.1253A>G (p.Asn418Ser)	CLPB, LOC126861258 (N448S +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +1 more	GConflicting classifications of pathogenicity
Select item 382370	NM_001258392.3(CLPB):c.996G>A (p.Arg332=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB +2 more	GBenign
Select item 1490410	NM_001258392.3(CLPB):c.905A>G (p.Glu302Gly)	CLPB (E273G +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +1 more	GUncertain significance
Select item 391383	NM_001258392.3(CLPB):c.693C>T (p.Arg231=)	CLPB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1985462	NM_030813.6(CLPB):c.729C>T (p.Pro243=)	CLPB	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria, type VIIB +1 more	GLikely benign
Select item 3024993	NM_030813.6(CLPB):c.676A>G (p.Ile226Val)	CLPB (I181V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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)	3-methylglutaconic aciduria, type VIIB +4 more	GBenign/Likely benign
Select item 542781	NM_030813.6(CLPB):c.661G>A (p.Gly221Ser)	CLPB (G221S +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB +2 more	GBenign/Likely benign
Select item 1176584	NM_001258392.3(CLPB):c.456-5108A>G	CLPB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 932534	NM_001258392.3(CLPB):c.336A>G (p.Gly112=)	CLPB (T32A)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642120	NM_001258392.3(CLPB):c.211G>T (p.Gly71Trp)	CLPB, LOC130006336 (G71W)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB +1 more	GUncertain significance
Select item 1059570	NM_001258392.3(CLPB):c.182C>T (p.Ala61Val)	LOC130006336, CLPB (A61V)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB +1 more	GUncertain significance
Select item 716318	NM_001258392.3(CLPB):c.159G>A (p.Gly53=)	CLPB, LOC130006336	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 794813	NM_001258392.3(CLPB):c.57G>C (p.Arg19=)	CLPB, LOC130006336	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria, type VIIB +1 more	GLikely benign
Select item 2642121	NM_001258392.3(CLPB):c.-3A>G	CLPB, LOC130006336	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance

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: 23