CLPB (ClpB family mitochondrial disaggregase) - Rat Genome Database

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Gene: CLPB (ClpB family mitochondrial disaggregase) Homo sapiens
Analyze
Symbol: CLPB
Name: ClpB family mitochondrial disaggregase
RGD ID: 731315
HGNC Page HGNC:30664
Description: Enables ATP hydrolysis activity and ATP-dependent protein disaggregase activity. Involved in several processes, including RIG-I signaling pathway; antiviral innate immune response; and granulocyte differentiation. Located in mitochondrial intermembrane space. Implicated in 3-methylglutaconic aciduria type 7a; 3-methylglutaconic aciduria type 7b; and severe congenital neutropenia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ANKCLB; ANKCLP; ankyrin-repeat containing bacterial clp fusion; caseinolytic mitochondrial matrix peptidase chaperone subunit B; caseinolytic peptidase B protein homolog; ClpB caseinolytic peptidase B homolog; ClpB homolog, mitochondrial AAA ATPase chaperonin; FLJ13152; HSP78; MEGCANN; MGCA7; MGCA7A; mitochondrial disaggregase; SCN9; SKD3; suppressor of potassium transport defect 3; testicular secretory protein Li 11
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381172,285,495 - 72,434,531 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1172,285,495 - 72,434,680 (-)EnsemblGRCh38hg38GRCh38
GRCh371171,996,539 - 72,145,575 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361171,681,117 - 71,823,216 (-)NCBINCBI36Build 36hg18NCBI36
Build 341171,681,119 - 71,823,216NCBI
Celera1169,304,879 - 69,446,914 (-)NCBICelera
Cytogenetic Map11q13.4NCBI
HuRef1168,296,594 - 68,438,806 (-)NCBIHuRef
CHM1_11171,886,780 - 72,028,986 (-)NCBICHM1_1
T2T-CHM13v2.01172,211,988 - 72,361,006 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IEA)
mitochondrial intermembrane space  (IDA,IEA,IMP)
mitochondrion  (IBA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
3-Methylglutaconic aciduria  (IAGP)
3-Methylglutaric aciduria  (IAGP)
Abdominal pain  (IAGP)
Abnormal basal ganglia morphology  (IAGP)
Abnormal bleeding  (IAGP)
Abnormal periventricular white matter morphology  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Absent speech  (IAGP)
Acute lymphoblastic leukemia  (IAGP)
Acute myeloid leukemia  (IAGP)
Anemia  (IAGP)
Anisopoikilocytosis  (IAGP)
Antineutrophil antibody positivity  (IAGP)
Aplastic anemia  (IAGP)
Ataxia  (IAGP)
Atypical absence seizure  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bone marrow hypocellularity  (IAGP)
Bone marrow maturation arrest  (IAGP)
Brachioradialis areflexia  (IAGP)
Bulbous nose  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Cellulitis  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Childhood onset  (IAGP)
Choreoathetosis  (IAGP)
Congenital onset  (IAGP)
Congestive heart failure  (IAGP)
Decreased fetal movement  (IAGP)
Dehydration  (IAGP)
Delayed CNS myelination  (IAGP)
Delayed gross motor development  (IAGP)
Delayed speech and language development  (IAGP)
Developmental regression  (IAGP)
Diarrhea  (IAGP)
Dysarthria  (IAGP)
Dystonia  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Encephalopathy  (IAGP)
Eosinophilia  (IAGP)
Feeding difficulties  (IAGP)
Fetal onset  (IAGP)
Fever  (IAGP)
Flexion contracture  (IAGP)
Generalized-onset seizure  (IAGP)
Gingivitis  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hemangioma  (IAGP)
Hepatic steatosis  (IAGP)
Hyperkinetic movements  (IAGP)
Hyperreflexia  (IAGP)
Hypertonia  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Increased circulating lactate concentration  (IAGP)
Increased CSF lactate  (IAGP)
Infantile onset  (IAGP)
Infection associated neutropenia  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Leukemia  (IAGP)
Leukopenia  (IAGP)
Lymphopenia  (IAGP)
Microcephaly  (IAGP)
Microcytic anemia  (IAGP)
Micrognathia  (IAGP)
Monocytosis  (IAGP)
Myelodysplasia  (IAGP)
Myeloid maturation arrest  (IAGP)
Myoclonic seizure  (IAGP)
Myoclonus  (IAGP)
Neonatal hypoglycemia  (IAGP)
Neonatal hypotonia  (IAGP)
Neonatal omphalitis  (IAGP)
Neonatal onset  (IAGP)
Nephrocalcinosis  (IAGP)
Neutropenia  (IAGP)
Nystagmus  (IAGP)
Opisthotonus  (IAGP)
Oral ulcer  (IAGP)
Osteopenia  (IAGP)
Periodontitis  (IAGP)
Periorbital fullness  (IAGP)
Pharyngitis  (IAGP)
Pneumonia  (IAGP)
Pneumothorax  (IAGP)
Polyhydramnios  (IAGP)
Premature loss of teeth  (IAGP)
Premature ovarian insufficiency  (IAGP)
Primary microcephaly  (IAGP)
Progressive  (IAGP)
Progressive extrapyramidal movement disorder  (IAGP)
Prolonged prothrombin time  (IAGP)
Pyoderma gangrenosum  (IAGP)
Recurrent aphthous stomatitis  (IAGP)
Recurrent bacterial infections  (IAGP)
Recurrent ear infections  (IAGP)
Recurrent infection of the gastrointestinal tract  (IAGP)
Recurrent infections  (IAGP)
Recurrent pneumonia  (IAGP)
Recurrent sinopulmonary infections  (IAGP)
Recurrent skin infections  (IAGP)
Recurrent viral infections  (IAGP)
Renal cyst  (IAGP)
Renal insufficiency  (IAGP)
Respiratory distress  (IAGP)
Respiratory failure  (IAGP)
Rhinitis  (IAGP)
Rhizomelia  (IAGP)
Secondary microcephaly  (IAGP)
Seizure  (IAGP)
Spasticity  (IAGP)
Splenomegaly  (IAGP)
Thrombocytopenia  (IAGP)
Tremor  (IAGP)
Trismus  (IAGP)
Tube feeding  (IAGP)
Zonular cataract  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:2745427   PMID:7835694   PMID:11230166   PMID:12477932   PMID:12927788   PMID:14702039   PMID:15231748   PMID:15489334   PMID:18488042   PMID:19060904   PMID:19615732   PMID:19698713  
PMID:20811636   PMID:20877624   PMID:21145461   PMID:21873635   PMID:23752268   PMID:24981860   PMID:25036637   PMID:25288401   PMID:25416956   PMID:25595726   PMID:25597510   PMID:25597511  
PMID:25650066   PMID:25710177   PMID:25921289   PMID:25963833   PMID:26186194   PMID:26496610   PMID:26673895   PMID:26972000   PMID:27432908   PMID:27499296   PMID:27891836   PMID:28514442  
PMID:28675297   PMID:28687938   PMID:28986522   PMID:29229926   PMID:29348145   PMID:29507755   PMID:29509190   PMID:29568061   PMID:29802200   PMID:30021884   PMID:30166453   PMID:30833792  
PMID:30948266   PMID:31048321   PMID:31091453   PMID:31522117   PMID:31527615   PMID:31586073   PMID:31617661   PMID:31871319   PMID:31917998   PMID:32573439   PMID:32694731   PMID:32707033  
PMID:32866687   PMID:32877691   PMID:32994395   PMID:33462405   PMID:33499712   PMID:33742100   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34115842   PMID:34140661   PMID:34244565  
PMID:35235311   PMID:35253629   PMID:35256949   PMID:35271311   PMID:35439318   PMID:35509820   PMID:35563538   PMID:35831314   PMID:35906200   PMID:35914814   PMID:35944360   PMID:36074910  
PMID:36114006   PMID:36123327   PMID:36215168   PMID:36244648   PMID:36724073   PMID:36736316   PMID:36745679   PMID:36849460   PMID:37827155   PMID:38270563  


Genomics

Comparative Map Data
CLPB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381172,285,495 - 72,434,531 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1172,285,495 - 72,434,680 (-)EnsemblGRCh38hg38GRCh38
GRCh371171,996,539 - 72,145,575 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361171,681,117 - 71,823,216 (-)NCBINCBI36Build 36hg18NCBI36
Build 341171,681,119 - 71,823,216NCBI
Celera1169,304,879 - 69,446,914 (-)NCBICelera
Cytogenetic Map11q13.4NCBI
HuRef1168,296,594 - 68,438,806 (-)NCBIHuRef
CHM1_11171,886,780 - 72,028,986 (-)NCBICHM1_1
T2T-CHM13v2.01172,211,988 - 72,361,006 (-)NCBIT2T-CHM13v2.0
Clpb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397101,312,958 - 101,444,667 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7101,312,840 - 101,444,713 (+)EnsemblGRCm39 Ensembl
GRCm387101,663,596 - 101,795,460 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7101,663,633 - 101,795,506 (+)EnsemblGRCm38mm10GRCm38
MGSCv377108,812,282 - 108,938,682 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367101,537,589 - 101,663,989 (+)NCBIMGSCv36mm8
Celera7102,026,885 - 102,161,012 (+)NCBICelera
Cytogenetic Map7E2NCBI
cM Map754.63NCBI
Clpb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81165,440,705 - 165,563,514 (+)NCBIGRCr8
mRatBN7.21156,028,740 - 156,158,183 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1156,028,930 - 156,168,788 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1164,019,285 - 164,141,861 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01171,199,372 - 171,321,950 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01164,077,596 - 164,199,818 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01166,739,372 - 166,866,095 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1166,739,532 - 166,866,107 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01172,929,476 - 173,055,807 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41159,126,512 - 159,246,279 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11159,205,528 - 159,325,296NCBI
Celera1154,107,674 - 154,230,148 (+)NCBICelera
Cytogenetic Map1q32NCBI
Clpb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541418,967,435 - 19,106,241 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541418,968,144 - 19,106,241 (+)NCBIChiLan1.0ChiLan1.0
CLPB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2973,236,078 - 73,383,210 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11174,279,479 - 74,426,781 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01167,364,012 - 67,514,035 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11170,593,691 - 70,736,909 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1170,594,633 - 70,736,699 (-)Ensemblpanpan1.1panPan2
CLPB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12125,710,634 - 25,855,418 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2125,710,723 - 25,852,857 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2125,481,034 - 25,625,477 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02125,919,797 - 26,064,299 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2125,919,849 - 26,065,369 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12125,711,431 - 25,855,832 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02125,927,511 - 26,071,959 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02125,828,735 - 25,973,390 (+)NCBIUU_Cfam_GSD_1.0
Clpb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494759,990,063 - 60,131,202 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364981,590,655 - 1,730,815 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364981,590,655 - 1,730,815 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CLPB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl96,836,390 - 6,981,892 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.196,836,367 - 7,089,896 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.297,598,604 - 7,661,474 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CLPB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1163,520,305 - 63,667,237 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl163,515,814 - 63,667,105 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604362,216,964 - 62,365,206 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Clpb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248174,593,639 - 4,735,091 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248174,593,823 - 4,735,573 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CLPB
630 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001258392.3(CLPB):c.1859G>T (p.Arg620Leu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000529792]|Inborn genetic diseases [RCV004024356] Chr11:72293542 [GRCh38]
Chr11:72004586 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.764T>C (p.Leu255Pro) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000530547] Chr11:72358891 [GRCh38]
Chr11:72069935 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.873+1G>A single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003750802]|not provided [RCV000521661] Chr11:72329706 [GRCh38]
Chr11:72040750 [GRCh37]
Chr11:11q13.4		 pathogenic|likely pathogenic
NM_001258392.3(CLPB):c.1666T>A (p.Phe556Ile) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001331418] Chr11:72294339 [GRCh38]
Chr11:72005383 [GRCh37]
Chr11:11q13.4		 uncertain significance
GRCh38/hg38 11q13.4(chr11:71164008-72309374)x3 copy number gain See cases [RCV000051910] Chr11:71164008..72309374 [GRCh38]
Chr11:71088949..72020418 [GRCh37]
Chr11:70552702..71698066 [NCBI36]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1595del (p.Ile532fs) deletion 3-methylglutaconic aciduria, type VIIB [RCV000173020] Chr11:72294410 [GRCh38]
Chr11:72005454 [GRCh37]
Chr11:11q13.4		 pathogenic
GRCh38/hg38 11q13.4-14.1(chr11:71923251-79662025)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052684]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052684]|See cases [RCV000052684] Chr11:71923251..79662025 [GRCh38]
Chr11:71634297..79373069 [GRCh37]
Chr11:71311945..79050717 [NCBI36]
Chr11:11q13.4-14.1		 pathogenic
GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1 copy number loss See cases [RCV000052708] Chr11:71928796..77064521 [GRCh38]
Chr11:71639842..76751808 [GRCh37]
Chr11:71317490..76453216 [NCBI36]
Chr11:11q13.4-13.5		 pathogenic
GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1 copy number loss See cases [RCV000052709] Chr11:71969881..78232895 [GRCh38]
Chr11:71680927..77943941 [GRCh37]
Chr11:71358575..77621589 [NCBI36]
Chr11:11q13.4-14.1		 pathogenic
NM_001258392.3(CLPB):c.1137G>A (p.Leu379=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003751773] Chr11:72302334 [GRCh38]
Chr11:72013378 [GRCh37]
Chr11:71691026 [NCBI36]
Chr11:11q13.4		 likely benign|not provided
NM_001258392.3(CLPB):c.259A>T (p.Thr87Ser) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001331420] Chr11:72434216 [GRCh38]
Chr11:72145260 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1847G>C (p.Gly616Ala) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001998197] Chr11:72293554 [GRCh38]
Chr11:72004598 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.877C>A (p.Gln293Lys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001997752] Chr11:72317217 [GRCh38]
Chr11:72028261 [GRCh37]
Chr11:11q13.4		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_001258392.3(CLPB):c.1215_1217inv (p.Glu405_Gly406delinsAspPro) inversion 3-methylglutaconic aciduria, type VIIB [RCV000167537] Chr11:72301915..72301917 [GRCh38]
Chr11:72012959..72012961 [GRCh37]
Chr11:11q13.4		 pathogenic|not provided
NM_001258392.3(CLPB):c.1847G>T (p.Gly616Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000167538] Chr11:72293554 [GRCh38]
Chr11:72004598 [GRCh37]
Chr11:11q13.4		 pathogenic|not provided
NM_001258392.3(CLPB):c.1682C>T (p.Ala561Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000167539] Chr11:72294125 [GRCh38]
Chr11:72005169 [GRCh37]
Chr11:11q13.4		 pathogenic|not provided
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000167540]|Inborn genetic diseases [RCV002515185]|not provided [RCV001570412] Chr11:72302328 [GRCh38]
Chr11:72013372 [GRCh37]
Chr11:11q13.4		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_001258392.3(CLPB):c.1760A>G (p.Tyr587Cys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000167541] Chr11:72294047 [GRCh38]
Chr11:72005091 [GRCh37]
Chr11:11q13.4		 pathogenic|not provided
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000167542]|3-methylglutaconic aciduria, type VIIB [RCV002492676]|Inborn genetic diseases [RCV002516522]|not provided [RCV000487136] Chr11:72302339 [GRCh38]
Chr11:72013383 [GRCh37]
Chr11:11q13.4		 pathogenic|likely pathogenic|not provided
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000167543]|3-methylglutaconic aciduria, type VIIB [RCV002478519]|Neutropenia [RCV002326924]|not provided [RCV002285272] Chr11:72302312 [GRCh38]
Chr11:72013356 [GRCh37]
Chr11:11q13.4		 pathogenic|not provided
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000167544]|CLPB-related condition [RCV003965218] Chr11:72358942 [GRCh38]
Chr11:72069986 [GRCh37]
Chr11:11q13.4		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_001258392.3(CLPB):c.871A>T (p.Lys291Ter) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000167545] Chr11:72329709 [GRCh38]
Chr11:72040753 [GRCh37]
Chr11:11q13.4		 pathogenic|not provided
NM_001258392.3(CLPB):c.1825G>A (p.Glu609Lys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000258935] Chr11:72293576 [GRCh38]
Chr11:72004620 [GRCh37]
Chr11:11q13.4		 pathogenic|not provided
NM_001258392.3(CLPB):c.1955T>A (p.Ile652Asn) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000258936] Chr11:72293446 [GRCh38]
Chr11:72004490 [GRCh37]
Chr11:11q13.4		 pathogenic|not provided
NM_001258392.3(CLPB):c.715G>A (p.Ala239Thr) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000258939] Chr11:72358940 [GRCh38]
Chr11:72069984 [GRCh37]
Chr11:11q13.4		 pathogenic|uncertain significance|not provided
NM_001258392.3(CLPB):c.725A>G (p.Tyr242Cys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000258943] Chr11:72358930 [GRCh38]
Chr11:72069974 [GRCh37]
Chr11:11q13.4		 pathogenic|uncertain significance
NM_001258392.3(CLPB):c.1847dup (p.Cys617fs) duplication 3-methylglutaconic aciduria, type VIIB [RCV000258944] Chr11:72293553..72293554 [GRCh38]
Chr11:72004597..72004598 [GRCh37]
Chr11:11q13.4		 pathogenic|not provided
NM_001258392.3(CLPB):c.658C>T (p.Arg220Ter) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000258945] Chr11:72358997 [GRCh38]
Chr11:72070041 [GRCh37]
Chr11:11q13.4		 pathogenic|not provided
NM_001258392.3(CLPB):c.1366T>C (p.Cys456Arg) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000258947] Chr11:72295612 [GRCh38]
Chr11:72006656 [GRCh37]
Chr11:11q13.4		 pathogenic|not provided
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000258952]|not provided [RCV001267996] Chr11:72294395 [GRCh38]
Chr11:72005439 [GRCh37]
Chr11:11q13.4		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000258954]|CLPB-related condition [RCV003955419]|not provided [RCV000316112] Chr11:72293609 [GRCh38]
Chr11:72004653 [GRCh37]
Chr11:11q13.4		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001258392.3(CLPB):c.1411G>A (p.Glu471Lys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000258957] Chr11:72295567 [GRCh38]
Chr11:72006611 [GRCh37]
Chr11:11q13.4		 pathogenic|uncertain significance|not provided
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001080392]|3-methylglutaconic aciduria, type VIIB [RCV002500743]|not provided [RCV000224307]|not specified [RCV000424439] Chr11:72372993 [GRCh38]
Chr11:72084037 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001258392.3(CLPB):c.456-4818T>C single nucleotide variant not provided [RCV001565776] Chr11:72407870 [GRCh38]
Chr11:72118914 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1703C>T (p.Thr568Met) single nucleotide variant not provided [RCV000585477] Chr11:72294104 [GRCh38]
Chr11:72005148 [GRCh37]
Chr11:11q13.4		 uncertain significance
NC_000011.10:g.72434828dup duplication not provided [RCV001547368] Chr11:72434807..72434808 [GRCh38]
Chr11:72145851..72145852 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.829C>T (p.Arg277Ter) single nucleotide variant not provided [RCV000579366] Chr11:72329751 [GRCh38]
Chr11:72040795 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001258392.3(CLPB):c.341G>A (p.Gly114Asp) single nucleotide variant Inborn genetic diseases [RCV003244900] Chr11:72434134 [GRCh38]
Chr11:72145178 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1003G>A (p.Glu335Lys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000552859] Chr11:72308590 [GRCh38]
Chr11:72019634 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.144G>A (p.Leu48=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001517801]|not provided [RCV001697951] Chr11:72434331 [GRCh38]
Chr11:72145375 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001258392.3(CLPB):c.1425C>T (p.His475=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000885003]|CLPB-related condition [RCV003980135]|not specified [RCV000603311] Chr11:72295553 [GRCh38]
Chr11:72006597 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1123-2A>G single nucleotide variant not provided [RCV000591500] Chr11:72302350 [GRCh38]
Chr11:72013394 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_001258392.3(CLPB):c.1704G>A (p.Thr568=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000553649]|not provided [RCV001712577] Chr11:72294103 [GRCh38]
Chr11:72005147 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1560+11T>C single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002065082]|not specified [RCV000420979] Chr11:72294609 [GRCh38]
Chr11:72005653 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.921C>T (p.Phe307=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003750793]|not specified [RCV000418403] Chr11:72317173 [GRCh38]
Chr11:72028217 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.2026A>G (p.Thr676Ala) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000966302]|not provided [RCV001572759] Chr11:72293375 [GRCh38]
Chr11:72004419 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001258392.3(CLPB):c.840A>G (p.Glu280=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001518733]|not specified [RCV000428374] Chr11:72329740 [GRCh38]
Chr11:72040784 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.1287C>T (p.Ala429=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000895077]|not provided [RCV001720142] Chr11:72301845 [GRCh38]
Chr11:72012889 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.776-10C>G single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000653273]|CLPB-related condition [RCV003959924]|not specified [RCV000442991] Chr11:72329814 [GRCh38]
Chr11:72040858 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001258392.3(CLPB):c.1429C>T (p.Leu477=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000653276]|not specified [RCV000422012] Chr11:72295549 [GRCh38]
Chr11:72006593 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001258392.3(CLPB):c.1164C>T (p.His388=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001481830]|not provided [RCV001703723] Chr11:72302307 [GRCh38]
Chr11:72013351 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.693C>T (p.Arg231=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002063595]|not provided [RCV000653271] Chr11:72358962 [GRCh38]
Chr11:72070006 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.996G>A (p.Arg332=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000540228]|not provided [RCV002263682]|not specified [RCV000443695] Chr11:72308597 [GRCh38]
Chr11:72019641 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.1122+16T>C single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001522794]|not specified [RCV000440166] Chr11:72307183 [GRCh38]
Chr11:72018227 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001258392.3(CLPB):c.1860C>T (p.Arg620=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000546945]|CLPB-related condition [RCV003970139]|not specified [RCV000444246] Chr11:72293541 [GRCh38]
Chr11:72004585 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.1535A>T (p.Glu512Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000541599]|not specified [RCV000420176] Chr11:72294645 [GRCh38]
Chr11:72005689 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.1680+7G>A single nucleotide variant not specified [RCV000433896] Chr11:72294318 [GRCh38]
Chr11:72005362 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.794G>C (p.Arg265Thr) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000543154]|CLPB-related condition [RCV003972595]|not specified [RCV000437555] Chr11:72329786 [GRCh38]
Chr11:72040830 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.1700_1702del (p.Ile567del) deletion not provided [RCV000483573] Chr11:72294105..72294107 [GRCh38]
Chr11:72005149..72005151 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_001258392.3(CLPB):c.514A>C (p.Met172Leu) single nucleotide variant not provided [RCV000478888] Chr11:72402994 [GRCh38]
Chr11:72114038 [GRCh37]
Chr11:11q13.4		 likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000698455]|Inborn genetic diseases [RCV004026445] Chr11:72317186 [GRCh38]
Chr11:72028230 [GRCh37]
Chr11:11q13.4		 conflicting interpretations of pathogenicity|uncertain significance
NM_001258392.3(CLPB):c.1066+1G>A single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002532826]|Inborn genetic diseases [RCV000624380] Chr11:72308526 [GRCh38]
Chr11:72019570 [GRCh37]
Chr11:11q13.4		 pathogenic|likely pathogenic
NM_001258392.3(CLPB):c.1066+13_1066+14insTGCT insertion not specified [RCV000603774] Chr11:72308513..72308514 [GRCh38]
Chr11:72019557..72019558 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1236G>A (p.Lys412=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002063242]|not specified [RCV000603197] Chr11:72301896 [GRCh38]
Chr11:72012940 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.543-12G>C single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002529612]|not specified [RCV000612230] Chr11:72380396 [GRCh38]
Chr11:72091440 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.874-12C>G single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002064022]|not provided [RCV000615209] Chr11:72317232 [GRCh38]
Chr11:72028276 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1017C>T (p.Tyr339=) single nucleotide variant not specified [RCV000615795] Chr11:72308576 [GRCh38]
Chr11:72019620 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.889C>T (p.Arg297Trp) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000653269] Chr11:72317205 [GRCh38]
Chr11:72028249 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.680G>T (p.Arg227Met) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000653270] Chr11:72358975 [GRCh38]
Chr11:72070019 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1993C>T (p.Arg665Trp) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001085111]|CLPB-related condition [RCV003928139]|not provided [RCV000837154] Chr11:72293408 [GRCh38]
Chr11:72004452 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_030813.6(CLPB):c.660C>T (p.Asp220=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000653274] Chr11:72373001 [GRCh38]
Chr11:72084045 [GRCh37]
Chr11:11q13.4		 likely benign
NM_030813.6(CLPB):c.661G>A (p.Gly221Ser) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000653275]|Inborn genetic diseases [RCV002534195]|not provided [RCV001532180] Chr11:72373000 [GRCh38]
Chr11:72084044 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001258392.3(CLPB):c.1474_1475delinsTG (p.Ala492Cys) indel 3-methylglutaconic aciduria, type VIIB [RCV000653277]|not provided [RCV001565548] Chr11:72295503..72295504 [GRCh38]
Chr11:72006547..72006548 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.249C>T (p.Leu83=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001453784]|not provided [RCV001697326] Chr11:72434226 [GRCh38]
Chr11:72145270 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.465A>G (p.Ser155=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001440433]|not provided [RCV001697511] Chr11:72403043 [GRCh38]
Chr11:72114087 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.690C>T (p.Asn230=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001522869]|not provided [RCV001697454] Chr11:72358965 [GRCh38]
Chr11:72070009 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001258392.3(CLPB):c.1253A>G (p.Asn418Ser) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000533534]|not provided [RCV002245016] Chr11:72301879 [GRCh38]
Chr11:72012923 [GRCh37]
Chr11:11q13.4		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001258392.3(CLPB):c.1561-18_1561-12del deletion 3-methylglutaconic aciduria, type VIIB [RCV002528604]|not specified [RCV000610396] Chr11:72294456..72294462 [GRCh38]
Chr11:72005500..72005506 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.404-16C>T single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001512512]|not specified [RCV000616634] Chr11:72430379 [GRCh38]
Chr11:72141423 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001258392.3(CLPB):c.-26A>T single nucleotide variant not specified [RCV000608128] Chr11:72434500 [GRCh38]
Chr11:72145544 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.776-5G>T single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003767474]|not specified [RCV000610782] Chr11:72329809 [GRCh38]
Chr11:72040853 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1571G>A (p.Arg524Gln) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001520043]|CLPB-related condition [RCV003953038]|Inborn genetic diseases [RCV003302937]|not specified [RCV000608416] Chr11:72294434 [GRCh38]
Chr11:72005478 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001258392.3(CLPB):c.1786-6C>T single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001504958]|not provided [RCV001697993] Chr11:72293621 [GRCh38]
Chr11:72004665 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.651G>A (p.Leu217=) single nucleotide variant not specified [RCV000611484] Chr11:72359004 [GRCh38]
Chr11:72070048 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.966C>T (p.Ser322=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000970567]|not specified [RCV000605511] Chr11:72317128 [GRCh38]
Chr11:72028172 [GRCh37]
Chr11:11q13.4		 likely benign
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3		 pathogenic
NM_001258392.3(CLPB):c.844A>G (p.Met282Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000692879]|3-methylglutaconic aciduria, type VIIB [RCV002499237]|CLPB-related condition [RCV003403608] Chr11:72329736 [GRCh38]
Chr11:72040780 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1482C>G (p.Asn494Lys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000693434] Chr11:72295496 [GRCh38]
Chr11:72006540 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.260C>T (p.Thr87Ile) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000693493] Chr11:72434215 [GRCh38]
Chr11:72145259 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.359C>G (p.Ala120Gly) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000687831] Chr11:72434116 [GRCh38]
Chr11:72145160 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.819G>C (p.Leu273Phe) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000697737] Chr11:72329761 [GRCh38]
Chr11:72040805 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.983G>A (p.Gly328Asp) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000689314] Chr11:72317111 [GRCh38]
Chr11:72028155 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.370G>T (p.Val124Phe) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000686571] Chr11:72434105 [GRCh38]
Chr11:72145149 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1292C>T (p.Pro431Leu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000707668] Chr11:72301840 [GRCh38]
Chr11:72012884 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1167+5G>T single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000696412] Chr11:72302299 [GRCh38]
Chr11:72013343 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001258392.3(CLPB):c.646+6T>C single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000692004]|CLPB-related condition [RCV003945714] Chr11:72380275 [GRCh38]
Chr11:72091319 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001258392.3(CLPB):c.441G>C (p.Met147Ile) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000692005] Chr11:72430326 [GRCh38]
Chr11:72141370 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000694608]|3-methylglutaconic aciduria, type VIIB [RCV002507207] Chr11:72358907 [GRCh38]
Chr11:72069951 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_030813.6(CLPB):c.703G>T (p.Glu235Ter) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000692333] Chr11:72372958 [GRCh38]
Chr11:72084002 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001258392.3(CLPB):c.455+227del deletion not provided [RCV001566782] Chr11:72430085 [GRCh38]
Chr11:72141129 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.*173G>C single nucleotide variant not provided [RCV001582237] Chr11:72293194 [GRCh38]
Chr11:72004238 [GRCh37]
Chr11:11q13.4		 likely benign
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_001258392.3(CLPB):c.455+1G>A single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001731007] Chr11:72430311 [GRCh38]
Chr11:72141355 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_001258392.3(CLPB):c.456-5108A>G single nucleotide variant not provided [RCV001532181] Chr11:72408160 [GRCh38]
Chr11:72119204 [GRCh37]
Chr11:11q13.4		 likely benign
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NC_000011.10:g.72434827_72434828del deletion not provided [RCV001535241] Chr11:72434808..72434809 [GRCh38]
Chr11:72145852..72145853 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.130G>A (p.Glu44Lys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001043233] Chr11:72434345 [GRCh38]
Chr11:72145389 [GRCh37]
Chr11:11q13.4		 uncertain significance
NC_000011.10:g.72434827_72434828dup duplication not provided [RCV001571364] Chr11:72434807..72434808 [GRCh38]
Chr11:72145851..72145852 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1330-117C>G single nucleotide variant not provided [RCV001586639] Chr11:72295765 [GRCh38]
Chr11:72006809 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.934C>T (p.Arg312Ter) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000988593]|not provided [RCV003147569] Chr11:72317160 [GRCh38]
Chr11:72028204 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_030813.6(CLPB):c.670C>T (p.Arg224Trp) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001046303]|not provided [RCV002222662] Chr11:72372991 [GRCh38]
Chr11:72084035 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.403+283C>A single nucleotide variant not provided [RCV001569859] Chr11:72433789 [GRCh38]
Chr11:72144833 [GRCh37]
Chr11:11q13.4		 likely benign
NC_000011.10:g.72434591C>A single nucleotide variant not provided [RCV001569981] Chr11:72434591 [GRCh38]
Chr11:72145635 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.*65A>G single nucleotide variant not provided [RCV001577832] Chr11:72293302 [GRCh38]
Chr11:72004346 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.988+307C>T single nucleotide variant not provided [RCV001577910] Chr11:72316799 [GRCh38]
Chr11:72027843 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1123-41C>G single nucleotide variant not provided [RCV001550321] Chr11:72302389 [GRCh38]
Chr11:72013433 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.212G>C (p.Gly71Ala) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000966303]|CLPB-related condition [RCV003905907]|not provided [RCV001553196] Chr11:72434263 [GRCh38]
Chr11:72145307 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1620C>T (p.Pro540=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000922030]|CLPB-related condition [RCV003895609] Chr11:72294385 [GRCh38]
Chr11:72005429 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1475C>G (p.Ala492Gly) single nucleotide variant CLPB-related condition [RCV003943147]|Inborn genetic diseases [RCV002548306]|not provided [RCV000965849] Chr11:72295503 [GRCh38]
Chr11:72006547 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1474G>T (p.Ala492Ser) single nucleotide variant CLPB-related condition [RCV003960772]|Inborn genetic diseases [RCV002548307]|not provided [RCV000965850] Chr11:72295504 [GRCh38]
Chr11:72006548 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.349G>T (p.Ala117Ser) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000904099]|CLPB-related condition [RCV003950624]|not provided [RCV001553173] Chr11:72434126 [GRCh38]
Chr11:72145170 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001258392.3(CLPB):c.51C>A (p.Leu17=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000970469]|not provided [RCV001550158] Chr11:72434424 [GRCh38]
Chr11:72145468 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001258392.3(CLPB):c.455+8G>C single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000902913] Chr11:72430304 [GRCh38]
Chr11:72141348 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1542G>A (p.Val514=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000927143] Chr11:72294638 [GRCh38]
Chr11:72005682 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.2T>C (p.Met1Thr) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001061247] Chr11:72434473 [GRCh38]
Chr11:72145517 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_030813.6(CLPB):c.690G>A (p.Trp230Ter) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001055434] Chr11:72372971 [GRCh38]
Chr11:72084015 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001258392.3(CLPB):c.193G>T (p.Gly65Ter) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001061785] Chr11:72434282 [GRCh38]
Chr11:72145326 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001258392.3(CLPB):c.1463G>A (p.Arg488His) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001069746] Chr11:72295515 [GRCh38]
Chr11:72006559 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1485G>A (p.Leu495=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001060355] Chr11:72295493 [GRCh38]
Chr11:72006537 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_030813.6(CLPB):c.653G>C (p.Gly218Ala) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001057515] Chr11:72373008 [GRCh38]
Chr11:72084052 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1018G>A (p.Asp340Asn) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001060912]|Inborn genetic diseases [RCV002553897]|not provided [RCV001732029] Chr11:72308575 [GRCh38]
Chr11:72019619 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1781A>G (p.His594Arg) single nucleotide variant not provided [RCV000782054] Chr11:72294026 [GRCh38]
Chr11:72005070 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_030813.6(CLPB):c.736+2T>C single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000907990] Chr11:72372923 [GRCh38]
Chr11:72083967 [GRCh37]
Chr11:11q13.4		 likely benign|conflicting interpretations of pathogenicity
NM_001258392.3(CLPB):c.647-6C>T single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001412251] Chr11:72359014 [GRCh38]
Chr11:72070058 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.723C>T (p.His241=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000883954]|not provided [RCV001571609] Chr11:72358932 [GRCh38]
Chr11:72069976 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1866G>A (p.Thr622=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000892016]|CLPB-related condition [RCV003940702] Chr11:72293535 [GRCh38]
Chr11:72004579 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001258392.3(CLPB):c.775+8_775+9del deletion not provided [RCV000963096] Chr11:72358871..72358872 [GRCh38]
Chr11:72069915..72069916 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.663G>A (p.Glu221=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000919002] Chr11:72358992 [GRCh38]
Chr11:72070036 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1740C>T (p.Val580=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001444511] Chr11:72294067 [GRCh38]
Chr11:72005111 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1698C>T (p.Asn566=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000914027] Chr11:72294109 [GRCh38]
Chr11:72005153 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1579G>A (p.Glu527Lys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000812868] Chr11:72294426 [GRCh38]
Chr11:72005470 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1218T>C (p.Gly406=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001089012]|not provided [RCV000839306] Chr11:72301914 [GRCh38]
Chr11:72012958 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000796680]|Neutropenia, severe congenital, 9, autosomal dominant [RCV002221585]|not provided [RCV001766643] Chr11:72294413 [GRCh38]
Chr11:72005457 [GRCh37]
Chr11:11q13.4		 pathogenic|uncertain significance
NM_030813.5(CLPB):c.-213C>T single nucleotide variant not provided [RCV000835724] Chr11:72434687 [GRCh38]
Chr11:72145731 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.456-135C>A single nucleotide variant not provided [RCV000835725] Chr11:72403187 [GRCh38]
Chr11:72114231 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.646+97A>G single nucleotide variant not provided [RCV000835726] Chr11:72380184 [GRCh38]
Chr11:72091228 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.1408G>A (p.Asp470Asn) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000823065] Chr11:72295570 [GRCh38]
Chr11:72006614 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.456-4797C>T single nucleotide variant not provided [RCV000831767] Chr11:72407849 [GRCh38]
Chr11:72118893 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.1958T>C (p.Ile653Thr) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000798683]|Inborn genetic diseases [RCV002537097]|not provided [RCV002279535] Chr11:72293443 [GRCh38]
Chr11:72004487 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.247C>T (p.Leu83Phe) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000806629] Chr11:72434228 [GRCh38]
Chr11:72145272 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.456-4731G>T single nucleotide variant not provided [RCV000843634] Chr11:72407783 [GRCh38]
Chr11:72118827 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.1786-176C>T single nucleotide variant not provided [RCV000843635] Chr11:72293791 [GRCh38]
Chr11:72004835 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.1796G>A (p.Arg599His) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000891927] Chr11:72293605 [GRCh38]
Chr11:72004649 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.874-346A>G single nucleotide variant not provided [RCV000844047] Chr11:72317566 [GRCh38]
Chr11:72028610 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.1329+165T>C single nucleotide variant not provided [RCV000844049] Chr11:72301638 [GRCh38]
Chr11:72012682 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.1375G>A (p.Ala459Thr) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000805730]|not provided [RCV001772082] Chr11:72295603 [GRCh38]
Chr11:72006647 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.989C>T (p.Ala330Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000796481]|CLPB-related condition [RCV003947986]|not provided [RCV003128700] Chr11:72308604 [GRCh38]
Chr11:72019648 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001258392.3(CLPB):c.1487-248_1487-244del microsatellite not provided [RCV000832575] Chr11:72294937..72294941 [GRCh38]
Chr11:72005981..72005985 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.1786-106C>T single nucleotide variant not provided [RCV000837958] Chr11:72293721 [GRCh38]
Chr11:72004765 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1067-50C>T single nucleotide variant not provided [RCV000835507] Chr11:72307304 [GRCh38]
Chr11:72018348 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.646+6968T>C single nucleotide variant not provided [RCV000831768] Chr11:72373313 [GRCh38]
Chr11:72084357 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.776-273C>T single nucleotide variant not provided [RCV000831769] Chr11:72330077 [GRCh38]
Chr11:72041121 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.1067-174G>A single nucleotide variant not provided [RCV000831770] Chr11:72307428 [GRCh38]
Chr11:72018472 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.1486+142G>A single nucleotide variant not provided [RCV000835675] Chr11:72295350 [GRCh38]
Chr11:72006394 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.1786-55A>G single nucleotide variant not provided [RCV000835676] Chr11:72293670 [GRCh38]
Chr11:72004714 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.513C>G (p.Leu171=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003750825]|not provided [RCV000841898] Chr11:72402995 [GRCh38]
Chr11:72114039 [GRCh37]
Chr11:11q13.4		 likely benign
NM_030813.6(CLPB):c.715T>C (p.Trp239Arg) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000794292]|Inborn genetic diseases [RCV004027478] Chr11:72372946 [GRCh38]
Chr11:72083990 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1570C>T (p.Arg524Trp) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000795768]|Neutropenia, severe congenital, 2, autosomal dominant [RCV003453645]|not provided [RCV003334010] Chr11:72294435 [GRCh38]
Chr11:72005479 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.646+188del deletion not provided [RCV000832947] Chr11:72380093 [GRCh38]
Chr11:72091137 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.1786-3C>T single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000801659] Chr11:72293618 [GRCh38]
Chr11:72004662 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1581G>A (p.Glu527=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001418860] Chr11:72294424 [GRCh38]
Chr11:72005468 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.456-4751G>C single nucleotide variant not provided [RCV000844043] Chr11:72407803 [GRCh38]
Chr11:72118847 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.1330-285C>G single nucleotide variant not provided [RCV000844051] Chr11:72295933 [GRCh38]
Chr11:72006977 [GRCh37]
Chr11:11q13.4		 benign
NC_000011.10:g.(?_72293347)_(72434494_?)del deletion 3-methylglutaconic aciduria, type VIIB [RCV000796135] Chr11:72293347..72434494 [GRCh38]
Chr11:72004391..72145538 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001258392.3(CLPB):c.135G>T (p.Pro45=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001516126]|not provided [RCV000841367] Chr11:72434340 [GRCh38]
Chr11:72145384 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001258392.3(CLPB):c.1546C>T (p.Arg516Cys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000799769] Chr11:72294634 [GRCh38]
Chr11:72005678 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.347G>C (p.Cys116Ser) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000792249] Chr11:72434128 [GRCh38]
Chr11:72145172 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.949A>G (p.Ile317Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000816495] Chr11:72317145 [GRCh38]
Chr11:72028189 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.619A>G (p.Lys207Glu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000897045]|not provided [RCV001569655] Chr11:72380308 [GRCh38]
Chr11:72091352 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1462C>T (p.Arg488Cys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000817094]|Inborn genetic diseases [RCV002537416] Chr11:72295516 [GRCh38]
Chr11:72006560 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.57G>C (p.Arg19=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000978096]|not provided [RCV002511006] Chr11:72434418 [GRCh38]
Chr11:72145462 [GRCh37]
Chr11:11q13.4		 likely benign
NM_030813.6(CLPB):c.671G>A (p.Arg224Gln) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000793081] Chr11:72372990 [GRCh38]
Chr11:72084034 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001258392.3(CLPB):c.1859G>A (p.Arg620His) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000823813]|Inborn genetic diseases [RCV004029160] Chr11:72293542 [GRCh38]
Chr11:72004586 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000798130]|3-methylglutaconic aciduria, type VIIB [RCV002487676] Chr11:72434261 [GRCh38]
Chr11:72145305 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.972C>T (p.Ile324=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003825174] Chr11:72317122 [GRCh38]
Chr11:72028166 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.532C>T (p.Arg178Ter) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001994547] Chr11:72402976 [GRCh38]
Chr11:72114020 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001258392.3(CLPB):c.2033A>G (p.Ter678Trp) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001065586] Chr11:72293368 [GRCh38]
Chr11:72004412 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.757A>G (p.Lys253Glu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001231227] Chr11:72358898 [GRCh38]
Chr11:72069942 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.449_451delinsAATAT (p.Val150fs) indel 3-methylglutaconic aciduria, type VIIB [RCV001248665] Chr11:72430316..72430318 [GRCh38]
Chr11:72141360..72141362 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001258392.3(CLPB):c.1214A>T (p.Glu405Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001238645] Chr11:72301918 [GRCh38]
Chr11:72012962 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1409A>G (p.Asp470Gly) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001223665] Chr11:72295569 [GRCh38]
Chr11:72006613 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.914G>A (p.Arg305His) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001241996] Chr11:72317180 [GRCh38]
Chr11:72028224 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.142C>G (p.Leu48Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001224238] Chr11:72434333 [GRCh38]
Chr11:72145377 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.694G>A (p.Ala232Thr) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001209532]|not provided [RCV003227008] Chr11:72358961 [GRCh38]
Chr11:72070005 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1979G>A (p.Arg660His) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001227178]|Inborn genetic diseases [RCV003163767] Chr11:72293422 [GRCh38]
Chr11:72004466 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001258392.3(CLPB):c.1777A>C (p.Lys593Gln) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001246114] Chr11:72294030 [GRCh38]
Chr11:72005074 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.910C>T (p.Arg304Trp) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001240975] Chr11:72317184 [GRCh38]
Chr11:72028228 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.384C>A (p.Ser128Arg) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001204348] Chr11:72434091 [GRCh38]
Chr11:72145135 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.546G>A (p.Val182=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001219163] Chr11:72380381 [GRCh38]
Chr11:72091425 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.338T>G (p.Leu113Arg) single nucleotide variant not provided [RCV003313549] Chr11:72434137 [GRCh38]
Chr11:72145181 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1946G>A (p.Arg649His) single nucleotide variant CLPB-related condition [RCV003410327]|Inborn genetic diseases [RCV003290374] Chr11:72293455 [GRCh38]
Chr11:72004499 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.917G>A (p.Arg306His) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003105039]|Inborn genetic diseases [RCV003269534] Chr11:72317177 [GRCh38]
Chr11:72028221 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.543-289A>T single nucleotide variant not provided [RCV001576062] Chr11:72380673 [GRCh38]
Chr11:72091717 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.775+36_775+45del deletion not provided [RCV001550225] Chr11:72358835..72358844 [GRCh38]
Chr11:72069879..72069888 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.*255C>A single nucleotide variant not provided [RCV001570537] Chr11:72293112 [GRCh38]
Chr11:72004156 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.456-4786C>G single nucleotide variant not provided [RCV001570781] Chr11:72407838 [GRCh38]
Chr11:72118882 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.873+68_873+69insATG insertion not provided [RCV001555690] Chr11:72329638..72329639 [GRCh38]
Chr11:72040682..72040683 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.775+25T>G single nucleotide variant not provided [RCV001561100] Chr11:72358855 [GRCh38]
Chr11:72069899 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1486+92G>T single nucleotide variant not provided [RCV001555909] Chr11:72295400 [GRCh38]
Chr11:72006444 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.775+30T>G single nucleotide variant not provided [RCV001561565] Chr11:72358850 [GRCh38]
Chr11:72069894 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.775+36A>G single nucleotide variant not provided [RCV001556686] Chr11:72358844 [GRCh38]
Chr11:72069888 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.-34C>T single nucleotide variant not provided [RCV001558921] Chr11:72434508 [GRCh38]
Chr11:72145552 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.456-5456T>A single nucleotide variant not provided [RCV001694986] Chr11:72408508 [GRCh38]
Chr11:72119552 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.1710C>T (p.Leu570=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000909888] Chr11:72294097 [GRCh38]
Chr11:72005141 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1476C>T (p.Ala492=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000907229] Chr11:72295502 [GRCh38]
Chr11:72006546 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.531C>T (p.Asn177=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001402361]|CLPB-related condition [RCV003955928] Chr11:72402977 [GRCh38]
Chr11:72114021 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.989-108G>A single nucleotide variant not provided [RCV001537440] Chr11:72308712 [GRCh38]
Chr11:72019756 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1320G>A (p.Leu440=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001402004] Chr11:72301812 [GRCh38]
Chr11:72012856 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.954T>C (p.Ile318=) single nucleotide variant not provided [RCV000907416] Chr11:72317140 [GRCh38]
Chr11:72028184 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.261T>C (p.Thr87=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000981517] Chr11:72434214 [GRCh38]
Chr11:72145258 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.159G>A (p.Gly53=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002065548]|not provided [RCV000888955] Chr11:72434316 [GRCh38]
Chr11:72145360 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.114T>C (p.Thr38=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000977521] Chr11:72434361 [GRCh38]
Chr11:72145405 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1743C>T (p.Asp581=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000932956] Chr11:72294064 [GRCh38]
Chr11:72005108 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1140C>T (p.Asp380=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000899000]|CLPB-related condition [RCV003968220]|not provided [RCV001655643] Chr11:72302331 [GRCh38]
Chr11:72013375 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001258392.3(CLPB):c.1937C>G (p.Pro646Arg) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001244323] Chr11:72293464 [GRCh38]
Chr11:72004508 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.356C>G (p.Ala119Gly) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001203367] Chr11:72434119 [GRCh38]
Chr11:72145163 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.38C>T (p.Ala13Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001243139] Chr11:72434437 [GRCh38]
Chr11:72145481 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1994G>A (p.Arg665Gln) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001201937] Chr11:72293407 [GRCh38]
Chr11:72004451 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1680+6A>C single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001234105] Chr11:72294319 [GRCh38]
Chr11:72005363 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1147G>A (p.Glu383Lys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001240264]|not provided [RCV003225164] Chr11:72302324 [GRCh38]
Chr11:72013368 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1744G>A (p.Gly582Ser) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001209047] Chr11:72294063 [GRCh38]
Chr11:72005107 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.896G>A (p.Arg299His) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001047629]|CLPB-related condition [RCV003973034] Chr11:72317198 [GRCh38]
Chr11:72028242 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.638C>G (p.Ser213Cys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001206457] Chr11:72380289 [GRCh38]
Chr11:72091333 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1844G>T (p.Gly615Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001241586] Chr11:72293557 [GRCh38]
Chr11:72004601 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.299G>C (p.Gly100Ala) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001228053] Chr11:72434176 [GRCh38]
Chr11:72145220 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1995G>T (p.Arg665=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001414461] Chr11:72293406 [GRCh38]
Chr11:72004450 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.403+7_403+8del deletion 3-methylglutaconic aciduria, type VIIB [RCV000935655] Chr11:72434064..72434065 [GRCh38]
Chr11:72145108..72145109 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1935C>T (p.Leu645=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV000889397] Chr11:72293466 [GRCh38]
Chr11:72004510 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.1168-9T>C single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001482814] Chr11:72301973 [GRCh38]
Chr11:72013017 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1167+102G>T single nucleotide variant not provided [RCV001574784] Chr11:72302202 [GRCh38]
Chr11:72013246 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.449_455del (p.Val150fs) deletion Neutropenia, severe congenital, 9, autosomal dominant [RCV003237404] Chr11:72430312..72430318 [GRCh38]
Chr11:72141356..72141362 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001258392.3(CLPB):c.775+45A>G single nucleotide variant not provided [RCV001570608] Chr11:72358835 [GRCh38]
Chr11:72069879 [GRCh37]
Chr11:11q13.4		 likely benign
NC_000011.10:g.72434651del deletion not provided [RCV001559564] Chr11:72434649 [GRCh38]
Chr11:72145693 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1330-122T>C single nucleotide variant not provided [RCV001560589] Chr11:72295770 [GRCh38]
Chr11:72006814 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.775+20A>G single nucleotide variant not provided [RCV001596451] Chr11:72358860 [GRCh38]
Chr11:72069904 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.646+334A>G single nucleotide variant not provided [RCV001596538] Chr11:72379947 [GRCh38]
Chr11:72090991 [GRCh37]
Chr11:11q13.4		 likely benign
GRCh37/hg19 11q13.4(chr11:71777538-72144933)x3 copy number gain not provided [RCV002472869] Chr11:71777538..72144933 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.751A>G (p.Thr251Ala) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001066164] Chr11:72358904 [GRCh38]
Chr11:72069948 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1487-251_1487-245dup duplication not provided [RCV001716034] Chr11:72294937..72294938 [GRCh38]
Chr11:72005981..72005982 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.1680+22G>A single nucleotide variant not provided [RCV001593323] Chr11:72294303 [GRCh38]
Chr11:72005347 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.775+50T>G single nucleotide variant not provided [RCV001677990] Chr11:72358830 [GRCh38]
Chr11:72069874 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.775+39T>G single nucleotide variant not provided [RCV001572225] Chr11:72358841 [GRCh38]
Chr11:72069885 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.775+37A>G single nucleotide variant not provided [RCV001581890] Chr11:72358843 [GRCh38]
Chr11:72069887 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.776-62G>C single nucleotide variant not provided [RCV001655487] Chr11:72329866 [GRCh38]
Chr11:72040910 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.775+84G>T single nucleotide variant not provided [RCV001588243] Chr11:72358796 [GRCh38]
Chr11:72069840 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.806G>T (p.Gly269Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001066546] Chr11:72329774 [GRCh38]
Chr11:72040818 [GRCh37]
Chr11:11q13.4		 uncertain significance
NC_000011.10:g.(?_72372905)_(72380404_?)del deletion 3-methylglutaconic aciduria, type VIIB [RCV001031570] Chr11:72083949..72091448 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001258392.3(CLPB):c.988+145T>C single nucleotide variant not provided [RCV001710227] Chr11:72316961 [GRCh38]
Chr11:72028005 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.456-299G>A single nucleotide variant not provided [RCV001584691] Chr11:72403351 [GRCh38]
Chr11:72114395 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.775+42A>G single nucleotide variant not provided [RCV001587746] Chr11:72358838 [GRCh38]
Chr11:72069882 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1330-269G>A single nucleotide variant not provided [RCV001583313] Chr11:72295917 [GRCh38]
Chr11:72006961 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.404-242C>G single nucleotide variant not provided [RCV001546350] Chr11:72430605 [GRCh38]
Chr11:72141649 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.456-4841G>A single nucleotide variant not provided [RCV001588233] Chr11:72407893 [GRCh38]
Chr11:72118937 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.56G>A (p.Arg19Gln) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001217081] Chr11:72434419 [GRCh38]
Chr11:72145463 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1514C>T (p.Thr505Ile) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001217691]|Inborn genetic diseases [RCV003259164] Chr11:72294666 [GRCh38]
Chr11:72005710 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1361T>C (p.Ile454Thr) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001169950] Chr11:72295617 [GRCh38]
Chr11:72006661 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1795C>T (p.Arg599Cys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001205382] Chr11:72293606 [GRCh38]
Chr11:72004650 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1718G>A (p.Arg573His) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001053937] Chr11:72294089 [GRCh38]
Chr11:72005133 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.758A>G (p.Lys253Arg) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001236372] Chr11:72358897 [GRCh38]
Chr11:72069941 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1591C>T (p.Arg531Trp) single nucleotide variant 3-methylglutaconic aciduria, type VIIA [RCV002283523]|3-methylglutaconic aciduria, type VIIB [RCV001089495]|not provided [RCV003145344] Chr11:72294414 [GRCh38]
Chr11:72005458 [GRCh37]
Chr11:11q13.4		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001258392.3(CLPB):c.1552A>G (p.Ile518Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001054490] Chr11:72294628 [GRCh38]
Chr11:72005672 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.336A>G (p.Gly112=) single nucleotide variant not provided [RCV001200379] Chr11:72434139 [GRCh38]
Chr11:72145183 [GRCh37]
Chr11:11q13.4		 likely benign
NM_030813.6(CLPB):c.735C>T (p.Gly245=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001231705] Chr11:72372926 [GRCh38]
Chr11:72083970 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.254C>T (p.Ala85Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001052668]|Inborn genetic diseases [RCV004031652] Chr11:72434221 [GRCh38]
Chr11:72145265 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.775+110C>T single nucleotide variant not provided [RCV001580919] Chr11:72358770 [GRCh38]
Chr11:72069814 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1870G>C (p.Glu624Gln) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001331419] Chr11:72293531 [GRCh38]
Chr11:72004575 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1832A>T (p.Asp611Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002000886] Chr11:72293569 [GRCh38]
Chr11:72004613 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1453G>A (p.Glu485Lys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001299379] Chr11:72295525 [GRCh38]
Chr11:72006569 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.748C>T (p.Arg250Cys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001308276]|Inborn genetic diseases [RCV002543228] Chr11:72358907 [GRCh38]
Chr11:72069951 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1167+6T>C single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001319804] Chr11:72302298 [GRCh38]
Chr11:72013342 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1606G>A (p.Val536Ile) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001300129] Chr11:72294399 [GRCh38]
Chr11:72005443 [GRCh37]
Chr11:11q13.4		 uncertain significance
NC_000011.9:g.(?_72083949)_(72084078_?)del deletion 3-methylglutaconic aciduria, type VIIB [RCV001309709] Chr11:72083949..72084078 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.935G>A (p.Arg312Gln) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001372204] Chr11:72317159 [GRCh38]
Chr11:72028203 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.916C>T (p.Arg306Cys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001372547] Chr11:72317178 [GRCh38]
Chr11:72028222 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1392C>G (p.Thr464=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001422147] Chr11:72295586 [GRCh38]
Chr11:72006630 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.182C>T (p.Ala61Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001368882]|not provided [RCV003399177] Chr11:72434293 [GRCh38]
Chr11:72145337 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.325A>G (p.Ser109Gly) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001369010]|Inborn genetic diseases [RCV004037068] Chr11:72434150 [GRCh38]
Chr11:72145194 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.189C>G (p.Phe63Leu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001369821]|not provided [RCV001561420] Chr11:72434286 [GRCh38]
Chr11:72145330 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001258392.3(CLPB):c.39G>A (p.Ala13=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001422642] Chr11:72434436 [GRCh38]
Chr11:72145480 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1840C>G (p.Pro614Ala) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001334292] Chr11:72293561 [GRCh38]
Chr11:72004605 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.730G>C (p.Val244Leu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001360315] Chr11:72358925 [GRCh38]
Chr11:72069969 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1803G>A (p.Val601=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001334291] Chr11:72293598 [GRCh38]
Chr11:72004642 [GRCh37]
Chr11:11q13.4		 conflicting interpretations of pathogenicity|uncertain significance
NM_001258392.3(CLPB):c.203C>A (p.Ala68Glu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001370533] Chr11:72434272 [GRCh38]
Chr11:72145316 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1969A>T (p.Ser657Cys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001304032]|not provided [RCV003883604] Chr11:72293432 [GRCh38]
Chr11:72004476 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.2021G>T (p.Cys674Phe) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001362548] Chr11:72293380 [GRCh38]
Chr11:72004424 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1468C>T (p.Arg490Cys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001318833] Chr11:72295510 [GRCh38]
Chr11:72006554 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.989C>G (p.Ala330Gly) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001323094] Chr11:72308604 [GRCh38]
Chr11:72019648 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1123-3C>T single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001316861] Chr11:72302351 [GRCh38]
Chr11:72013395 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.896G>C (p.Arg299Pro) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001341168]|Inborn genetic diseases [RCV002546925] Chr11:72317198 [GRCh38]
Chr11:72028242 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.776G>A (p.Gly259Glu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001342711] Chr11:72329804 [GRCh38]
Chr11:72040848 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.812C>G (p.Thr271Arg) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001320893] Chr11:72329768 [GRCh38]
Chr11:72040812 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1610A>C (p.Tyr537Ser) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001350063] Chr11:72294395 [GRCh38]
Chr11:72005439 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_030813.6(CLPB):c.675C>A (p.His225Gln) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001362253] Chr11:72372986 [GRCh38]
Chr11:72084030 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1672G>A (p.Ala558Thr) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001363785] Chr11:72294333 [GRCh38]
Chr11:72005377 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1631C>G (p.Ser544Trp) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001360058] Chr11:72294374 [GRCh38]
Chr11:72005418 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1530C>G (p.Phe510Leu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001315613] Chr11:72294650 [GRCh38]
Chr11:72005694 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.229C>A (p.Arg77Ser) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001359574]|not provided [RCV002285477] Chr11:72434246 [GRCh38]
Chr11:72145290 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.246C>T (p.Cys82=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001413067] Chr11:72434229 [GRCh38]
Chr11:72145273 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1146C>T (p.Ser382=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001461567] Chr11:72302325 [GRCh38]
Chr11:72013369 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1644A>G (p.Gln548=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001482488] Chr11:72294361 [GRCh38]
Chr11:72005405 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1968C>T (p.Asp656=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001458239] Chr11:72293433 [GRCh38]
Chr11:72004477 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.817T>C (p.Leu273=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001499782] Chr11:72329763 [GRCh38]
Chr11:72040807 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1503T>G (p.Ser501Arg) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001477818]|not provided [RCV003145670] Chr11:72294677 [GRCh38]
Chr11:72005721 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001258392.3(CLPB):c.1428G>A (p.Ala476=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001412025]|not provided [RCV002285482] Chr11:72295550 [GRCh38]
Chr11:72006594 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.528C>A (p.Ile176=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001409696] Chr11:72402980 [GRCh38]
Chr11:72114024 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1461C>T (p.Ser487=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001407532] Chr11:72295517 [GRCh38]
Chr11:72006561 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.646+7G>A single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001419187] Chr11:72380274 [GRCh38]
Chr11:72091318 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.849G>A (p.Lys283=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001416181] Chr11:72329731 [GRCh38]
Chr11:72040775 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1293dup (p.Asp432fs) duplication 3-methylglutaconic aciduria, type VIIB [RCV001387772] Chr11:72301838..72301839 [GRCh38]
Chr11:72012882..72012883 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001258392.3(CLPB):c.1053A>G (p.Gly351=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001445562] Chr11:72308540 [GRCh38]
Chr11:72019584 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1329+50G>A single nucleotide variant not provided [RCV001535199] Chr11:72301753 [GRCh38]
Chr11:72012797 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1416C>T (p.Ile472=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001431871] Chr11:72295562 [GRCh38]
Chr11:72006606 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.105G>T (p.Arg35=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001406584] Chr11:72434370 [GRCh38]
Chr11:72145414 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1680+78CA[5] microsatellite not provided [RCV001686786] Chr11:72294239..72294240 [GRCh38]
Chr11:72005283..72005284 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.582C>T (p.Asn194=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001465480] Chr11:72380345 [GRCh38]
Chr11:72091389 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1605C>T (p.Ile535=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001486209] Chr11:72294400 [GRCh38]
Chr11:72005444 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.404-63C>T single nucleotide variant not provided [RCV001589333] Chr11:72430426 [GRCh38]
Chr11:72141470 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.450C>A (p.Val150=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001477023] Chr11:72430317 [GRCh38]
Chr11:72141361 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.543-290T>A single nucleotide variant not provided [RCV001608951] Chr11:72380674 [GRCh38]
Chr11:72091718 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.455+134G>T single nucleotide variant not provided [RCV001587122] Chr11:72430178 [GRCh38]
Chr11:72141222 [GRCh37]
Chr11:11q13.4		 likely benign
NC_000011.10:g.72434676A>C single nucleotide variant not provided [RCV001714493] Chr11:72434676 [GRCh38]
Chr11:72145720 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.837G>A (p.Gly279=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001439239] Chr11:72329743 [GRCh38]
Chr11:72040787 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.221dup (p.Gly76fs) duplication 3-methylglutaconic aciduria, type VIIB [RCV001526389] Chr11:72434253..72434254 [GRCh38]
Chr11:72145297..72145298 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_001258392.3(CLPB):c.1374C>T (p.Asp458=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001470195] Chr11:72295604 [GRCh38]
Chr11:72006648 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.646+7371C>T single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001401535] Chr11:72372910 [GRCh38]
Chr11:72083954 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.393G>A (p.Pro131=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001440039] Chr11:72434082 [GRCh38]
Chr11:72145126 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.771T>C (p.Asp257=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001505156] Chr11:72358884 [GRCh38]
Chr11:72069928 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.776-10_776-8del deletion 3-methylglutaconic aciduria, type VIIB [RCV001427596] Chr11:72329812..72329814 [GRCh38]
Chr11:72040856..72040858 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.651G>C (p.Leu217=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001436870] Chr11:72359004 [GRCh38]
Chr11:72070048 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.776-10C>A single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001415542] Chr11:72329814 [GRCh38]
Chr11:72040858 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.555C>T (p.Val185=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001485380] Chr11:72380372 [GRCh38]
Chr11:72091416 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.58C>T (p.Leu20=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001452643] Chr11:72434417 [GRCh38]
Chr11:72145461 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1908G>A (p.Leu636=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001466930] Chr11:72293493 [GRCh38]
Chr11:72004537 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.775+17A>G single nucleotide variant not provided [RCV001733130] Chr11:72358863 [GRCh38]
Chr11:72069907 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.312G>C (p.Trp104Cys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003772132]|not provided [RCV001779736] Chr11:72434163 [GRCh38]
Chr11:72145207 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_030813.6(CLPB):c.654dup (p.Gln219fs) duplication 3-methylglutaconic aciduria, type VIIB [RCV001780517]|not provided [RCV003147657] Chr11:72373006..72373007 [GRCh38]
Chr11:72084050..72084051 [GRCh37]
Chr11:11q13.4		 pathogenic|likely pathogenic
NM_001258392.3(CLPB):c.873+51_873+62del deletion not provided [RCV001794712] Chr11:72329645..72329656 [GRCh38]
Chr11:72040689..72040700 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.925C>G (p.Leu309Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001995498] Chr11:72317169 [GRCh38]
Chr11:72028213 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1413G>C (p.Glu471Asp) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001877321] Chr11:72295565 [GRCh38]
Chr11:72006609 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.692G>A (p.Arg231His) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001878318]|Inborn genetic diseases [RCV004039617] Chr11:72358963 [GRCh38]
Chr11:72070007 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1492G>A (p.Val498Ile) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001871501] Chr11:72294688 [GRCh38]
Chr11:72005732 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.992T>C (p.Ile331Thr) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002006256] Chr11:72308601 [GRCh38]
Chr11:72019645 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1981A>G (p.Arg661Gly) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002016077] Chr11:72293420 [GRCh38]
Chr11:72004464 [GRCh37]
Chr11:11q13.4		 uncertain significance
GRCh37/hg19 11q13.4(chr11:71567724-72488649) copy number loss not specified [RCV002052933] Chr11:71567724..72488649 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1677G>T (p.Lys559Asn) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001864770] Chr11:72294328 [GRCh38]
Chr11:72005372 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1300C>T (p.Leu434Phe) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001876444]|Inborn genetic diseases [RCV003365472] Chr11:72301832 [GRCh38]
Chr11:72012876 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.266G>A (p.Gly89Glu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001864973] Chr11:72434209 [GRCh38]
Chr11:72145253 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.403+6T>C single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002033021] Chr11:72434066 [GRCh38]
Chr11:72145110 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1497G>C (p.Gln499His) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002023631]|Inborn genetic diseases [RCV002548835] Chr11:72294683 [GRCh38]
Chr11:72005727 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1308C>G (p.Ile436Met) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001837342] Chr11:72301824 [GRCh38]
Chr11:72012868 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.610A>G (p.Lys204Glu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002050477]|Inborn genetic diseases [RCV003161324] Chr11:72380317 [GRCh38]
Chr11:72091361 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1489G>C (p.Asp497His) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002049897] Chr11:72294691 [GRCh38]
Chr11:72005735 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1469G>A (p.Arg490His) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001990694]|not provided [RCV003146416] Chr11:72295509 [GRCh38]
Chr11:72006553 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1758C>G (p.His586Gln) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002015795] Chr11:72294049 [GRCh38]
Chr11:72005093 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.413T>C (p.Leu138Pro) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002016624] Chr11:72430354 [GRCh38]
Chr11:72141398 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.367G>C (p.Val123Leu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002022935] Chr11:72434108 [GRCh38]
Chr11:72145152 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.578C>T (p.Pro193Leu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002026444] Chr11:72380349 [GRCh38]
Chr11:72091393 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1780C>T (p.His594Tyr) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002006680] Chr11:72294027 [GRCh38]
Chr11:72005071 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1197C>T (p.Gly399=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002007024] Chr11:72301935 [GRCh38]
Chr11:72012979 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.242A>G (p.Lys81Arg) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002023661] Chr11:72434233 [GRCh38]
Chr11:72145277 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.456-3T>A single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002026272]|CLPB-related condition [RCV003911155] Chr11:72403055 [GRCh38]
Chr11:72114099 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001258392.3(CLPB):c.1329+1G>A single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002021016] Chr11:72301802 [GRCh38]
Chr11:72012846 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_001258392.3(CLPB):c.908A>T (p.Glu303Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001906669] Chr11:72317186 [GRCh38]
Chr11:72028230 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1741G>A (p.Asp581Asn) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001936182] Chr11:72294066 [GRCh38]
Chr11:72005110 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001258392.3(CLPB):c.343A>G (p.Met115Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001883682] Chr11:72434132 [GRCh38]
Chr11:72145176 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.905A>G (p.Glu302Gly) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001983723]|not provided [RCV003886544] Chr11:72317189 [GRCh38]
Chr11:72028233 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1067-9T>C single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001949488] Chr11:72307263 [GRCh38]
Chr11:72018307 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.409G>T (p.Ala137Ser) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001897653] Chr11:72430358 [GRCh38]
Chr11:72141402 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_030813.6(CLPB):c.688T>C (p.Trp230Arg) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001931214] Chr11:72372973 [GRCh38]
Chr11:72084017 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1008T>G (p.Asn336Lys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001966314] Chr11:72308585 [GRCh38]
Chr11:72019629 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.860C>T (p.Thr287Ile) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001963740] Chr11:72329720 [GRCh38]
Chr11:72040764 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1631C>T (p.Ser544Leu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001967045] Chr11:72294374 [GRCh38]
Chr11:72005418 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.2023_*4del (p.Asn675fs) deletion 3-methylglutaconic aciduria, type VIIB [RCV001940137]|Inborn genetic diseases [RCV002555793] Chr11:72293363..72293378 [GRCh38]
Chr11:72004407..72004422 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1247G>T (p.Cys416Phe) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001917320] Chr11:72301885 [GRCh38]
Chr11:72012929 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1765G>A (p.Ala589Thr) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001917226] Chr11:72294042 [GRCh38]
Chr11:72005086 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.988G>A (p.Ala330Thr) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001943550] Chr11:72317106 [GRCh38]
Chr11:72028150 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1978C>T (p.Arg660Cys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001919303] Chr11:72293423 [GRCh38]
Chr11:72004467 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.109G>C (p.Val37Leu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001976779] Chr11:72434366 [GRCh38]
Chr11:72145410 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.193G>A (p.Gly65Arg) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001921819] Chr11:72434282 [GRCh38]
Chr11:72145326 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1861A>G (p.Ile621Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001978270] Chr11:72293540 [GRCh38]
Chr11:72004584 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1477G>A (p.Glu493Lys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001983812]|Inborn genetic diseases [RCV002608033] Chr11:72295501 [GRCh38]
Chr11:72006545 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1202T>C (p.Val401Ala) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001957497] Chr11:72301930 [GRCh38]
Chr11:72012974 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1718G>C (p.Arg573Pro) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001988794] Chr11:72294089 [GRCh38]
Chr11:72005133 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.350C>T (p.Ala117Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001932737] Chr11:72434125 [GRCh38]
Chr11:72145169 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.422C>T (p.Ala141Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001905919] Chr11:72430345 [GRCh38]
Chr11:72141389 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1514C>G (p.Thr505Ser) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001907271] Chr11:72294666 [GRCh38]
Chr11:72005710 [GRCh37]
Chr11:11q13.4		 uncertain significance
NC_000011.9:g.(?_72145096)_(72145518_?)del deletion 3-methylglutaconic aciduria, type VIIB [RCV001933669] Chr11:72145096..72145518 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001258392.3(CLPB):c.890G>A (p.Arg297Gln) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001934751] Chr11:72317204 [GRCh38]
Chr11:72028248 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1164C>G (p.His388Gln) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001909140]|Inborn genetic diseases [RCV002555338] Chr11:72302307 [GRCh38]
Chr11:72013351 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.967G>A (p.Ala323Thr) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001912229] Chr11:72317127 [GRCh38]
Chr11:72028171 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.257C>T (p.Ala86Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001916501] Chr11:72434218 [GRCh38]
Chr11:72145262 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.269G>A (p.Arg90His) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001950529] Chr11:72434206 [GRCh38]
Chr11:72145250 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1228A>G (p.Thr410Ala) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001976314] Chr11:72301904 [GRCh38]
Chr11:72012948 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.256_261del (p.Ala86_Thr87del) deletion 3-methylglutaconic aciduria, type VIIB [RCV001887392] Chr11:72434214..72434219 [GRCh38]
Chr11:72145258..72145263 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1692G>T (p.Arg564Ser) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001947317]|Inborn genetic diseases [RCV002551008] Chr11:72294115 [GRCh38]
Chr11:72005159 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.73A>G (p.Thr25Ala) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001911914] Chr11:72434402 [GRCh38]
Chr11:72145446 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.497T>G (p.Leu166Arg) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001889943] Chr11:72403011 [GRCh38]
Chr11:72114055 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.628G>A (p.Gly210Arg) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001931053] Chr11:72380299 [GRCh38]
Chr11:72091343 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.41C>T (p.Pro14Leu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001950417] Chr11:72434434 [GRCh38]
Chr11:72145478 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1489G>T (p.Asp497Tyr) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001894771] Chr11:72294691 [GRCh38]
Chr11:72005735 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1717C>T (p.Arg573Cys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV001952781] Chr11:72294090 [GRCh38]
Chr11:72005134 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1067-4C>A single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002111944] Chr11:72307258 [GRCh38]
Chr11:72018302 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.843G>A (p.Val281=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002207219] Chr11:72329737 [GRCh38]
Chr11:72040781 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1033C>T (p.Leu345=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002108682] Chr11:72308560 [GRCh38]
Chr11:72019604 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1681-14C>T single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002104539] Chr11:72294140 [GRCh38]
Chr11:72005184 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1786-5G>A single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002088996] Chr11:72293620 [GRCh38]
Chr11:72004664 [GRCh37]
Chr11:11q13.4		 likely benign
NM_030813.6(CLPB):c.705G>A (p.Glu235=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002186762] Chr11:72372956 [GRCh38]
Chr11:72084000 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.2024A>G (p.Asn675Ser) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002090385] Chr11:72293377 [GRCh38]
Chr11:72004421 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.543-20_543-18del deletion 3-methylglutaconic aciduria, type VIIB [RCV002189914] Chr11:72380402..72380404 [GRCh38]
Chr11:72091446..72091448 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1785+8C>T single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002089797] Chr11:72294014 [GRCh38]
Chr11:72005058 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1785+7A>G single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002125659] Chr11:72294015 [GRCh38]
Chr11:72005059 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.2028C>T (p.Thr676=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002148368] Chr11:72293373 [GRCh38]
Chr11:72004417 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1066+9del deletion 3-methylglutaconic aciduria, type VIIB [RCV002192079] Chr11:72308518 [GRCh38]
Chr11:72019562 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.873+12G>A single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002095904] Chr11:72329695 [GRCh38]
Chr11:72040739 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.647-10G>A single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002152392] Chr11:72359018 [GRCh38]
Chr11:72070062 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.646+13T>C single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002165546] Chr11:72380268 [GRCh38]
Chr11:72091312 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.99C>A (p.Ser33=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002091389] Chr11:72434376 [GRCh38]
Chr11:72145420 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1407C>T (p.Ser469=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002211997] Chr11:72295571 [GRCh38]
Chr11:72006615 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.776-17C>T single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002171393] Chr11:72329821 [GRCh38]
Chr11:72040865 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1902A>C (p.Pro634=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002215674] Chr11:72293499 [GRCh38]
Chr11:72004543 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.988+14A>T single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002145458] Chr11:72317092 [GRCh38]
Chr11:72028136 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1865C>T (p.Thr622Met) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002127382] Chr11:72293536 [GRCh38]
Chr11:72004580 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.1427C>A (p.Ala476Glu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002227869] Chr11:72295551 [GRCh38]
Chr11:72006595 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1312C>T (p.Leu438=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002083533] Chr11:72301820 [GRCh38]
Chr11:72012864 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.775+13G>A single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002143409] Chr11:72358867 [GRCh38]
Chr11:72069911 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1362T>A (p.Ile454=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002084088] Chr11:72295616 [GRCh38]
Chr11:72006660 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1073C>A (p.Thr358Lys) single nucleotide variant Neutropenia, severe congenital, 9, autosomal dominant [RCV002221962] Chr11:72307248 [GRCh38]
Chr11:72018292 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001258392.3(CLPB):c.1591C>G (p.Arg531Gly) single nucleotide variant Neutropenia, severe congenital, 9, autosomal dominant [RCV002221963] Chr11:72294414 [GRCh38]
Chr11:72005458 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001258392.3(CLPB):c.1768C>T (p.Arg590Cys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003588780]|Neutropenia, severe congenital, 9, autosomal dominant [RCV002221964] Chr11:72294039 [GRCh38]
Chr11:72005083 [GRCh37]
Chr11:11q13.4		 pathogenic|uncertain significance
NM_001258392.3(CLPB):c.1190C>T (p.Pro397Leu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002221965] Chr11:72301942 [GRCh38]
Chr11:72012986 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001258392.3(CLPB):c.1588G>A (p.Gly530Arg) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002221966]|Microcytic anemia [RCV002468655]|not provided [RCV002265063] Chr11:72294417 [GRCh38]
Chr11:72005461 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001258392.3(CLPB):c.1123-14T>C single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002081835] Chr11:72302362 [GRCh38]
Chr11:72013406 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.990G>A (p.Ala330=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002083986] Chr11:72308603 [GRCh38]
Chr11:72019647 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.447A>G (p.Glu149=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002198825] Chr11:72430320 [GRCh38]
Chr11:72141364 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1134G>A (p.Arg378=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002162398] Chr11:72302337 [GRCh38]
Chr11:72013381 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.213G>A (p.Gly71=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002102322] Chr11:72434262 [GRCh38]
Chr11:72145306 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1200C>T (p.Tyr400=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002142417] Chr11:72301932 [GRCh38]
Chr11:72012976 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.391C>A (p.Pro131Thr) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003117098] Chr11:72434084 [GRCh38]
Chr11:72145128 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.361G>A (p.Ala121Thr) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003116200] Chr11:72434114 [GRCh38]
Chr11:72145158 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.776-13C>A single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003117889] Chr11:72329817 [GRCh38]
Chr11:72040861 [GRCh37]
Chr11:11q13.4		 likely benign
NC_000011.9:g.(?_72004411)_(72006712_?)del deletion 3-methylglutaconic aciduria, type VIIB [RCV003122780] Chr11:72004411..72006712 [GRCh37]
Chr11:11q13.4		 pathogenic
NC_000011.9:g.(?_72141336)_(72145518_?)dup duplication 3-methylglutaconic aciduria, type VIIB [RCV003122782] Chr11:72141336..72145518 [GRCh37]
Chr11:11q13.4		 uncertain significance
NC_000011.9:g.(?_72145398)_(72145517_?)del deletion 3-methylglutaconic aciduria, type VIIB [RCV003122783] Chr11:72145398..72145517 [GRCh37]
Chr11:11q13.4		 pathogenic
NC_000011.9:g.(?_72145398)_(72150823_?)del deletion 3-methylglutaconic aciduria, type VIIB [RCV003122784] Chr11:72145398..72150823 [GRCh37]
Chr11:11q13.4		 pathogenic
NC_000011.9:g.(?_72083996)_(72087051_?)del deletion 3-methylglutaconic aciduria, type VIIB [RCV003122785] Chr11:72083996..72087051 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NC_000011.9:g.(?_71146421)_(75283128_?)dup duplication 3-methylglutaconic aciduria, type VIIB [RCV003122786] Chr11:71146421..75283128 [GRCh37]
Chr11:11q13.4-13.5		 uncertain significance
NM_001258392.3(CLPB):c.533G>A (p.Arg178Gln) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003118880]|not provided [RCV003491317] Chr11:72402975 [GRCh38]
Chr11:72114019 [GRCh37]
Chr11:11q13.4		 uncertain significance
NC_000011.9:g.(?_71903218)_(72019668_?)del deletion Cerebral folate transport deficiency [RCV003119752] Chr11:71903218..72019668 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001258392.3(CLPB):c.1014G>A (p.Trp338Ter) single nucleotide variant not provided [RCV003232014] Chr11:72308579 [GRCh38]
Chr11:72019623 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001258392.3(CLPB):c.646+7359A>G single nucleotide variant not provided [RCV002274535] Chr11:72372922 [GRCh38]
Chr11:72083966 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.233T>G (p.Phe78Cys) single nucleotide variant not provided [RCV002276262] Chr11:72434242 [GRCh38]
Chr11:72145286 [GRCh37]
Chr11:11q13.4		 uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
CLPB, ARG628CYS variation 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia [RCV002274865]   pathogenic
NM_001258392.3(CLPB):c.1813_1814delinsAA (p.Ala605Lys) indel 3-methylglutaconic aciduria, type VIIB [RCV002274866] Chr11:72293587..72293588 [GRCh38]
Chr11:72004631..72004632 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001258392.3(CLPB):c.1994G>C (p.Arg665Pro) single nucleotide variant not provided [RCV002265404] Chr11:72293407 [GRCh38]
Chr11:72004451 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.194G>A (p.Gly65Glu) single nucleotide variant Inborn genetic diseases [RCV003286358] Chr11:72434281 [GRCh38]
Chr11:72145325 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.79C>T (p.Arg27Trp) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002771381] Chr11:72434396 [GRCh38]
Chr11:72145440 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1574G>A (p.Arg525Lys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002299427] Chr11:72294431 [GRCh38]
Chr11:72005475 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.209C>A (p.Thr70Asn) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002299762] Chr11:72434266 [GRCh38]
Chr11:72145310 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.971T>A (p.Ile324Asn) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002299511] Chr11:72317123 [GRCh38]
Chr11:72028167 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1976C>G (p.Thr659Ser) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002297944] Chr11:72293425 [GRCh38]
Chr11:72004469 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1167+5G>A single nucleotide variant Neutropenia [RCV002331853] Chr11:72302299 [GRCh38]
Chr11:72013343 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001258392.3(CLPB):c.328A>G (p.Arg110Gly) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003099098]|not provided [RCV002306179] Chr11:72434147 [GRCh38]
Chr11:72145191 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1275A>G (p.Glu425=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002971455] Chr11:72301857 [GRCh38]
Chr11:72012901 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1283A>G (p.Lys428Arg) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002904156] Chr11:72301849 [GRCh38]
Chr11:72012893 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.542+18A>G single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002881091] Chr11:72402948 [GRCh38]
Chr11:72113992 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1561-12C>G single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002614755] Chr11:72294456 [GRCh38]
Chr11:72005500 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.34C>T (p.Leu12=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002994123] Chr11:72434441 [GRCh38]
Chr11:72145485 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.427C>A (p.Arg143Ser) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003074148] Chr11:72430340 [GRCh38]
Chr11:72141384 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.539A>G (p.Asn180Ser) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002771016] Chr11:72402969 [GRCh38]
Chr11:72114013 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.937C>G (p.Leu313Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002794864] Chr11:72317157 [GRCh38]
Chr11:72028201 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.17T>A (p.Val6Glu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003034919] Chr11:72434458 [GRCh38]
Chr11:72145502 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.148G>T (p.Val50Leu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002837667] Chr11:72434327 [GRCh38]
Chr11:72145371 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.749G>A (p.Arg250His) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003076625] Chr11:72358906 [GRCh38]
Chr11:72069950 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1123-3C>A single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003035063] Chr11:72302351 [GRCh38]
Chr11:72013395 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1489G>A (p.Asp497Asn) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002756624] Chr11:72294691 [GRCh38]
Chr11:72005735 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1945C>T (p.Arg649Cys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003060676]|Inborn genetic diseases [RCV003076967] Chr11:72293456 [GRCh38]
Chr11:72004500 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.538A>G (p.Asn180Asp) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002751372] Chr11:72402970 [GRCh38]
Chr11:72114014 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1858C>T (p.Arg620Cys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002615393] Chr11:72293543 [GRCh38]
Chr11:72004587 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.517G>A (p.Val173Met) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003014132] Chr11:72402991 [GRCh38]
Chr11:72114035 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.665A>G (p.Asp222Gly) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002615122] Chr11:72358990 [GRCh38]
Chr11:72070034 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.874-7C>G single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002776180] Chr11:72317227 [GRCh38]
Chr11:72028271 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.202G>A (p.Ala68Thr) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003074034] Chr11:72434273 [GRCh38]
Chr11:72145317 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1067-11T>C single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003075671] Chr11:72307265 [GRCh38]
Chr11:72018309 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1440G>A (p.Arg480=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002755966] Chr11:72295538 [GRCh38]
Chr11:72006582 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1103T>C (p.Met368Thr) single nucleotide variant Inborn genetic diseases [RCV002860974] Chr11:72307218 [GRCh38]
Chr11:72018262 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_030813.6(CLPB):c.729C>T (p.Pro243=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002780766]|not provided [RCV003403911] Chr11:72372932 [GRCh38]
Chr11:72083976 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.775+14T>C single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002621709] Chr11:72358866 [GRCh38]
Chr11:72069910 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1648G>A (p.Val550Ile) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002770368]|Inborn genetic diseases [RCV002800065] Chr11:72294357 [GRCh38]
Chr11:72005401 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.553G>C (p.Val185Leu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002593325] Chr11:72380374 [GRCh38]
Chr11:72091418 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.131A>C (p.Glu44Ala) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002740092] Chr11:72434344 [GRCh38]
Chr11:72145388 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1017C>G (p.Tyr339Ter) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003078934] Chr11:72308576 [GRCh38]
Chr11:72019620 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001258392.3(CLPB):c.403G>A (p.Asp135Asn) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002570029] Chr11:72434072 [GRCh38]
Chr11:72145116 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.404-15C>G single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003020600] Chr11:72430378 [GRCh38]
Chr11:72141422 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.967G>T (p.Ala323Ser) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003035945] Chr11:72317127 [GRCh38]
Chr11:72028171 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.2021G>A (p.Cys674Tyr) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002705367] Chr11:72293380 [GRCh38]
Chr11:72004424 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.790C>T (p.Gln264Ter) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003037025]|not provided [RCV003059918] Chr11:72329790 [GRCh38]
Chr11:72040834 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001258392.3(CLPB):c.1890A>G (p.Leu630=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002909840] Chr11:72293511 [GRCh38]
Chr11:72004555 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.816C>T (p.Pro272=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002621925] Chr11:72329764 [GRCh38]
Chr11:72040808 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.886C>G (p.Gln296Glu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002620006]|Inborn genetic diseases [RCV002620005] Chr11:72317208 [GRCh38]
Chr11:72028252 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.513C>T (p.Leu171=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002927284] Chr11:72402995 [GRCh38]
Chr11:72114039 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1252A>C (p.Asn418His) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003080533] Chr11:72301880 [GRCh38]
Chr11:72012924 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.760_761inv (p.Glu254Ser) inversion 3-methylglutaconic aciduria, type VIIB [RCV002948751] Chr11:72358894..72358895 [GRCh38]
Chr11:72069938..72069939 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.646+7247C>T single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002889178] Chr11:72373034 [GRCh38]
Chr11:72084078 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1291C>T (p.Pro431Ser) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002622738] Chr11:72301841 [GRCh38]
Chr11:72012885 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.174A>G (p.Thr58=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003037359] Chr11:72434301 [GRCh38]
Chr11:72145345 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.547G>A (p.Val183Ile) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002952629] Chr11:72380380 [GRCh38]
Chr11:72091424 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1795C>A (p.Arg599Ser) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002918208]|Inborn genetic diseases [RCV002918209] Chr11:72293606 [GRCh38]
Chr11:72004650 [GRCh37]
Chr11:11q13.4		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001258392.3(CLPB):c.1484T>C (p.Leu495Pro) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003750935]|Inborn genetic diseases [RCV002713621] Chr11:72295494 [GRCh38]
Chr11:72006538 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1930C>T (p.Arg644Cys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002576022] Chr11:72293471 [GRCh38]
Chr11:72004515 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.694G>C (p.Ala232Pro) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002918531] Chr11:72358961 [GRCh38]
Chr11:72070005 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.909G>A (p.Glu303=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002894251] Chr11:72317185 [GRCh38]
Chr11:72028229 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1680+9G>A single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002790713] Chr11:72294316 [GRCh38]
Chr11:72005360 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1132A>T (p.Arg378Trp) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002624894] Chr11:72302339 [GRCh38]
Chr11:72013383 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.646+7257G>A single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002663577] Chr11:72373024 [GRCh38]
Chr11:72084068 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1623C>T (p.Phe541=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003040766] Chr11:72294382 [GRCh38]
Chr11:72005426 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1610A>T (p.Tyr537Phe) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003082336] Chr11:72294395 [GRCh38]
Chr11:72005439 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1094C>A (p.Ala365Asp) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003059285] Chr11:72307227 [GRCh38]
Chr11:72018271 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.2034del (p.Ter678TyrextTer?) deletion 3-methylglutaconic aciduria, type VIIB [RCV002828666] Chr11:72293367 [GRCh38]
Chr11:72004411 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1680+2dup duplication 3-methylglutaconic aciduria, type VIIB [RCV002801959] Chr11:72294322..72294323 [GRCh38]
Chr11:72005366..72005367 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.88G>A (p.Gly30Arg) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003040846] Chr11:72434387 [GRCh38]
Chr11:72145431 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.403+13T>G single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002594870] Chr11:72434059 [GRCh38]
Chr11:72145103 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.419A>C (p.Glu140Ala) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003024109] Chr11:72430348 [GRCh38]
Chr11:72141392 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1785+13G>A single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002642429] Chr11:72294009 [GRCh38]
Chr11:72005053 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.157G>A (p.Gly53Arg) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002829220] Chr11:72434318 [GRCh38]
Chr11:72145362 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.278dup (p.Pro94fs) duplication 3-methylglutaconic aciduria, type VIIB [RCV002917202] Chr11:72434196..72434197 [GRCh38]
Chr11:72145240..72145241 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001258392.3(CLPB):c.424G>A (p.Ala142Thr) single nucleotide variant Inborn genetic diseases [RCV002804542] Chr11:72430343 [GRCh38]
Chr11:72141387 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1640T>C (p.Ile547Thr) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002766100]|Inborn genetic diseases [RCV004067909] Chr11:72294365 [GRCh38]
Chr11:72005409 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.780C>T (p.Ala260=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002894149] Chr11:72329800 [GRCh38]
Chr11:72040844 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.428G>A (p.Arg143His) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002649895]|Inborn genetic diseases [RCV002649896] Chr11:72430339 [GRCh38]
Chr11:72141383 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1167+3G>T single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002716196] Chr11:72302301 [GRCh38]
Chr11:72013345 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1817C>T (p.Ala606Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002676572] Chr11:72293584 [GRCh38]
Chr11:72004628 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.455G>A (p.Arg152Lys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003031577] Chr11:72430312 [GRCh38]
Chr11:72141356 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1165G>T (p.Glu389Ter) single nucleotide variant Inborn genetic diseases [RCV002877727] Chr11:72302306 [GRCh38]
Chr11:72013350 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001258392.3(CLPB):c.134C>A (p.Pro45Gln) single nucleotide variant Inborn genetic diseases [RCV002935103] Chr11:72434341 [GRCh38]
Chr11:72145385 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.352C>T (p.Leu118=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002833848] Chr11:72434123 [GRCh38]
Chr11:72145167 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1960G>A (p.Asp654Asn) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003087494] Chr11:72293441 [GRCh38]
Chr11:72004485 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.491A>C (p.His164Pro) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003027251] Chr11:72403017 [GRCh38]
Chr11:72114061 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1552A>C (p.Ile518Leu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003088020] Chr11:72294628 [GRCh38]
Chr11:72005672 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.404-12dup duplication 3-methylglutaconic aciduria, type VIIB [RCV002811508] Chr11:72430374..72430375 [GRCh38]
Chr11:72141418..72141419 [GRCh37]
Chr11:11q13.4		 benign
NM_001258392.3(CLPB):c.1720G>A (p.Glu574Lys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003089859] Chr11:72294087 [GRCh38]
Chr11:72005131 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.839A>C (p.Glu280Ala) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002811287] Chr11:72329741 [GRCh38]
Chr11:72040785 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1371G>A (p.Lys457=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003030725] Chr11:72295607 [GRCh38]
Chr11:72006651 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1909C>T (p.Pro637Ser) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003027446] Chr11:72293492 [GRCh38]
Chr11:72004536 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.183C>T (p.Ala61=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002717137] Chr11:72434292 [GRCh38]
Chr11:72145336 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1487-17_1487-16del deletion 3-methylglutaconic aciduria, type VIIB [RCV003044241] Chr11:72294709..72294710 [GRCh38]
Chr11:72005753..72005754 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1561-20C>T single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002899023] Chr11:72294464 [GRCh38]
Chr11:72005508 [GRCh37]
Chr11:11q13.4		 likely benign
NM_030813.6(CLPB):c.651G>C (p.Gly217=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002895236] Chr11:72373010 [GRCh38]
Chr11:72084054 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.395C>T (p.Ser132Phe) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002580494] Chr11:72434080 [GRCh38]
Chr11:72145124 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.50T>G (p.Leu17Arg) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003088813] Chr11:72434425 [GRCh38]
Chr11:72145469 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1486+7C>T single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002770635] Chr11:72295485 [GRCh38]
Chr11:72006529 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.303G>A (p.Gln101=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002647487] Chr11:72434172 [GRCh38]
Chr11:72145216 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.99C>G (p.Ser33=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002811799] Chr11:72434376 [GRCh38]
Chr11:72145420 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.403+14C>T single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002598748] Chr11:72434058 [GRCh38]
Chr11:72145102 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.361G>T (p.Ala121Ser) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002582598] Chr11:72434114 [GRCh38]
Chr11:72145158 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.103C>A (p.Arg35=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002633801] Chr11:72434372 [GRCh38]
Chr11:72145416 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1920G>A (p.Gln640=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002676861] Chr11:72293481 [GRCh38]
Chr11:72004525 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.451A>G (p.Ser151Gly) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002814510] Chr11:72430316 [GRCh38]
Chr11:72141360 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1632G>A (p.Ser544=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002609767] Chr11:72294373 [GRCh38]
Chr11:72005417 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.369G>T (p.Val123=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002653373] Chr11:72434106 [GRCh38]
Chr11:72145150 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1959C>T (p.Ile653=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003092978] Chr11:72293442 [GRCh38]
Chr11:72004486 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.34C>G (p.Leu12Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003049939] Chr11:72434441 [GRCh38]
Chr11:72145485 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.646+14G>C single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003093085] Chr11:72380267 [GRCh38]
Chr11:72091311 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1560+2_1560+5del deletion 3-methylglutaconic aciduria, type VIIB [RCV003050685] Chr11:72294615..72294618 [GRCh38]
Chr11:72005659..72005662 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_001258392.3(CLPB):c.1727C>G (p.Ala576Gly) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV002612579] Chr11:72294080 [GRCh38]
Chr11:72005124 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.995G>A (p.Arg332Gln) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003778840]|not provided [RCV003145049] Chr11:72308598 [GRCh38]
Chr11:72019642 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.548T>A (p.Val183Glu) single nucleotide variant not provided [RCV003145050] Chr11:72380379 [GRCh38]
Chr11:72091423 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1534G>A (p.Glu512Lys) single nucleotide variant not provided [RCV003322949] Chr11:72294646 [GRCh38]
Chr11:72005690 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.766C>T (p.Leu256Phe) single nucleotide variant Inborn genetic diseases [RCV003305296] Chr11:72358889 [GRCh38]
Chr11:72069933 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1990A>C (p.Ile664Leu) single nucleotide variant not provided [RCV003329629] Chr11:72293411 [GRCh38]
Chr11:72004455 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.874-2A>G single nucleotide variant not provided [RCV003480487] Chr11:72317222 [GRCh38]
Chr11:72028266 [GRCh37]
Chr11:11q13.4		 likely pathogenic
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 copy number gain not provided [RCV003484842] Chr11:59923608..76272324 [GRCh37]
Chr11:11q12.2-13.5		 pathogenic
NM_001258392.3(CLPB):c.211G>T (p.Gly71Trp) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003750968]|not provided [RCV003398113] Chr11:72434264 [GRCh38]
Chr11:72145308 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1835T>G (p.Leu612Arg) single nucleotide variant not provided [RCV003398112] Chr11:72293566 [GRCh38]
Chr11:72004610 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.403+4A>G single nucleotide variant CLPB-related condition [RCV003416796] Chr11:72434068 [GRCh38]
Chr11:72145112 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.-3A>G single nucleotide variant not provided [RCV003409342] Chr11:72434477 [GRCh38]
Chr11:72145521 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.456-5110G>C single nucleotide variant CLPB-related condition [RCV003404456] Chr11:72408162 [GRCh38]
Chr11:72119206 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.4C>G (p.Leu2Val) single nucleotide variant not provided [RCV003441277] Chr11:72434471 [GRCh38]
Chr11:72145515 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.506C>T (p.Thr169Ile) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003458294] Chr11:72403002 [GRCh38]
Chr11:72114046 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.646+7369C>T single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003876823] Chr11:72372912 [GRCh38]
Chr11:72083956 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.378C>T (p.Cys126=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003877655] Chr11:72434097 [GRCh38]
Chr11:72145141 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.795G>A (p.Arg265=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003828887] Chr11:72329785 [GRCh38]
Chr11:72040829 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1764C>T (p.Gly588=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003828638] Chr11:72294043 [GRCh38]
Chr11:72005087 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.403+15T>G single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003829974] Chr11:72434057 [GRCh38]
Chr11:72145101 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.542+13C>A single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003751200] Chr11:72402953 [GRCh38]
Chr11:72113997 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.654C>T (p.Ile218=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003751204] Chr11:72359001 [GRCh38]
Chr11:72070045 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.491A>G (p.His164Arg) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003751391] Chr11:72403017 [GRCh38]
Chr11:72114061 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.942G>A (p.Lys314=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003833052] Chr11:72317152 [GRCh38]
Chr11:72028196 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.784C>A (p.Pro262Thr) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003751597] Chr11:72329796 [GRCh38]
Chr11:72040840 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.850C>T (p.Leu284Phe) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003751221] Chr11:72329730 [GRCh38]
Chr11:72040774 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.759G>A (p.Lys253=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003750288] Chr11:72358896 [GRCh38]
Chr11:72069940 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.404-17G>C single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003750334] Chr11:72430380 [GRCh38]
Chr11:72141424 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.452G>A (p.Ser151Asn) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003750364] Chr11:72430315 [GRCh38]
Chr11:72141359 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.217C>A (p.Arg73Ser) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003750365] Chr11:72434258 [GRCh38]
Chr11:72145302 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1181T>C (p.Ile394Thr) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003751988] Chr11:72301951 [GRCh38]
Chr11:72012995 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1067-20T>C single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003750453] Chr11:72307274 [GRCh38]
Chr11:72018318 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1201G>A (p.Val401Ile) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003750538] Chr11:72301931 [GRCh38]
Chr11:72012975 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1902A>G (p.Pro634=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003751129] Chr11:72293499 [GRCh38]
Chr11:72004543 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1598A>G (p.Asn533Ser) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003751181] Chr11:72294407 [GRCh38]
Chr11:72005451 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1931G>A (p.Arg644His) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003751342] Chr11:72293470 [GRCh38]
Chr11:72004514 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.278G>C (p.Gly93Ala) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003855720] Chr11:72434197 [GRCh38]
Chr11:72145241 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1341_1344del (p.Asp448fs) deletion 3-methylglutaconic aciduria, type VIIB [RCV003751714] Chr11:72295634..72295637 [GRCh38]
Chr11:72006678..72006681 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001258392.3(CLPB):c.158G>C (p.Gly53Ala) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003751722] Chr11:72434317 [GRCh38]
Chr11:72145361 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.404-17G>A single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003752034] Chr11:72430380 [GRCh38]
Chr11:72141424 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.646+7372T>C single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003751294] Chr11:72372909 [GRCh38]
Chr11:72083953 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.95C>T (p.Ala32Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003751662] Chr11:72434380 [GRCh38]
Chr11:72145424 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1027C>T (p.His343Tyr) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003813916] Chr11:72308566 [GRCh38]
Chr11:72019610 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1123-13T>C single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003752033] Chr11:72302361 [GRCh38]
Chr11:72013405 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1123-18T>C single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003750370] Chr11:72302366 [GRCh38]
Chr11:72013410 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.271C>T (p.Leu91Phe) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003752315] Chr11:72434204 [GRCh38]
Chr11:72145248 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1920G>C (p.Gln640His) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003752286] Chr11:72293481 [GRCh38]
Chr11:72004525 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1122+11G>A single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003752187] Chr11:72307188 [GRCh38]
Chr11:72018232 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1910C>G (p.Pro637Arg) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003750609] Chr11:72293491 [GRCh38]
Chr11:72004535 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.709T>G (p.Cys237Gly) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003752428] Chr11:72358946 [GRCh38]
Chr11:72069990 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.157G>T (p.Gly53Trp) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003751123] Chr11:72434318 [GRCh38]
Chr11:72145362 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1122+16T>G single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003751141] Chr11:72307183 [GRCh38]
Chr11:72018227 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1168-3C>G single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003752522] Chr11:72301967 [GRCh38]
Chr11:72013011 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1959C>G (p.Ile653Met) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003752590] Chr11:72293442 [GRCh38]
Chr11:72004486 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_030813.6(CLPB):c.666A>C (p.Ala222=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003750386] Chr11:72372995 [GRCh38]
Chr11:72084039 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.212G>A (p.Gly71Glu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003750423] Chr11:72434263 [GRCh38]
Chr11:72145307 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.315C>T (p.Asn105=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003750350] Chr11:72434160 [GRCh38]
Chr11:72145204 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1230C>T (p.Thr410=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003750747]|CLPB-related condition [RCV003919347] Chr11:72301902 [GRCh38]
Chr11:72012946 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1681-17T>C single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003752326] Chr11:72294143 [GRCh38]
Chr11:72005187 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.988+16A>G single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003752233] Chr11:72317090 [GRCh38]
Chr11:72028134 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1417G>A (p.Ala473Thr) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003750395] Chr11:72295561 [GRCh38]
Chr11:72006605 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1799T>C (p.Val600Ala) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003750544] Chr11:72293602 [GRCh38]
Chr11:72004646 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.380A>G (p.Tyr127Cys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003751859] Chr11:72434095 [GRCh38]
Chr11:72145139 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.599G>A (p.Ser200Asn) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003750454] Chr11:72380328 [GRCh38]
Chr11:72091372 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1681-3C>T single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003750711] Chr11:72294129 [GRCh38]
Chr11:72005173 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1024G>A (p.Glu342Lys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003752104] Chr11:72308569 [GRCh38]
Chr11:72019613 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1297G>A (p.Val433Met) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003752124] Chr11:72301835 [GRCh38]
Chr11:72012879 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.253G>A (p.Ala85Thr) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003751007] Chr11:72434222 [GRCh38]
Chr11:72145266 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1067-20T>A single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003751091] Chr11:72307274 [GRCh38]
Chr11:72018318 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1299G>C (p.Val433=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003752453] Chr11:72301833 [GRCh38]
Chr11:72012877 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.782A>T (p.Asn261Ile) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003751078] Chr11:72329798 [GRCh38]
Chr11:72040842 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_030813.6(CLPB):c.693A>C (p.Thr231=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003751266] Chr11:72372968 [GRCh38]
Chr11:72084012 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1167+9T>C single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003751656] Chr11:72302295 [GRCh38]
Chr11:72013339 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.2009_2010del (p.Pro670fs) deletion 3-methylglutaconic aciduria, type VIIB [RCV003751726] Chr11:72293391..72293392 [GRCh38]
Chr11:72004435..72004436 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.733C>G (p.Leu245Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003751785] Chr11:72358922 [GRCh38]
Chr11:72069966 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1823A>G (p.Tyr608Cys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003751564] Chr11:72293578 [GRCh38]
Chr11:72004622 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1750A>G (p.Asn584Asp) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003751734] Chr11:72294057 [GRCh38]
Chr11:72005101 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.406G>A (p.Ala136Thr) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003751804] Chr11:72430361 [GRCh38]
Chr11:72141405 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.354_355delinsCT (p.Ala119Ser) indel 3-methylglutaconic aciduria, type VIIB [RCV003751928] Chr11:72434120..72434121 [GRCh38]
Chr11:72145164..72145165 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_030813.6(CLPB):c.736G>A (p.Val246Ile) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003588250] Chr11:72372925 [GRCh38]
Chr11:72083969 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1486+8G>A single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003842732] Chr11:72295484 [GRCh38]
Chr11:72006528 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1940A>G (p.Lys647Arg) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003588362] Chr11:72293461 [GRCh38]
Chr11:72004505 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.230G>C (p.Arg77Pro) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003588418] Chr11:72434245 [GRCh38]
Chr11:72145289 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.373C>G (p.His125Asp) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003588441] Chr11:72434102 [GRCh38]
Chr11:72145146 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.669C>T (p.Asp223=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003845539] Chr11:72358986 [GRCh38]
Chr11:72070030 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.278G>A (p.Gly93Asp) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003848050] Chr11:72434197 [GRCh38]
Chr11:72145241 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1560+19C>T single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003589756] Chr11:72294601 [GRCh38]
Chr11:72005645 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1184G>A (p.Gly395Glu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003589680] Chr11:72301948 [GRCh38]
Chr11:72012992 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.229C>G (p.Arg77Gly) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003863155] Chr11:72434246 [GRCh38]
Chr11:72145290 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.973G>A (p.Ala325Thr) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003863419] Chr11:72317121 [GRCh38]
Chr11:72028165 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.343A>C (p.Met115Leu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003588168] Chr11:72434132 [GRCh38]
Chr11:72145176 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1067-3T>C single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003588181] Chr11:72307257 [GRCh38]
Chr11:72018301 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.896G>T (p.Arg299Leu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003590198] Chr11:72317198 [GRCh38]
Chr11:72028242 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.270C>T (p.Arg90=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003590796] Chr11:72434205 [GRCh38]
Chr11:72145249 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.775+1G>A single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003589117] Chr11:72358879 [GRCh38]
Chr11:72069923 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_001258392.3(CLPB):c.542+15T>C single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003590948] Chr11:72402951 [GRCh38]
Chr11:72113995 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1167+10G>A single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003872003] Chr11:72302294 [GRCh38]
Chr11:72013338 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1972A>G (p.Lys658Glu) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003589278] Chr11:72293429 [GRCh38]
Chr11:72004473 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1102A>G (p.Met368Val) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003870407] Chr11:72307219 [GRCh38]
Chr11:72018263 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1681-1G>A single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003589250] Chr11:72294127 [GRCh38]
Chr11:72005171 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_001258392.3(CLPB):c.646+7375A>G single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003869536] Chr11:72372906 [GRCh38]
Chr11:72083950 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1245G>A (p.Gln415=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003590887] Chr11:72301887 [GRCh38]
Chr11:72012931 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.646+7367del deletion 3-methylglutaconic aciduria, type VIIB [RCV003860258] Chr11:72372914 [GRCh38]
Chr11:72083958 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1205G>C (p.Gly402Ala) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003847504] Chr11:72301927 [GRCh38]
Chr11:72012971 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.897T>G (p.Arg299=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003864818] Chr11:72317197 [GRCh38]
Chr11:72028241 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1836G>T (p.Leu612=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003589554] Chr11:72293565 [GRCh38]
Chr11:72004609 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1047C>T (p.Phe349=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003589509] Chr11:72308546 [GRCh38]
Chr11:72019590 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.282C>T (p.Pro94=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003589662] Chr11:72434193 [GRCh38]
Chr11:72145237 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.193G>C (p.Gly65Arg) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003588139] Chr11:72434282 [GRCh38]
Chr11:72145326 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.874-10C>G single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003841872] Chr11:72317230 [GRCh38]
Chr11:72028274 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1548C>T (p.Arg516=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003822450] Chr11:72294632 [GRCh38]
Chr11:72005676 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.689A>T (p.Asn230Ile) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003589931] Chr11:72358966 [GRCh38]
Chr11:72070010 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_030813.6(CLPB):c.675C>T (p.His225=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003590075] Chr11:72372986 [GRCh38]
Chr11:72084030 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1495C>A (p.Gln499Lys) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003590269] Chr11:72294685 [GRCh38]
Chr11:72005729 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.404-14C>T single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003823402] Chr11:72430377 [GRCh38]
Chr11:72141421 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.989-4G>A single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003589053] Chr11:72308608 [GRCh38]
Chr11:72019652 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.1561-7C>T single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003590672] Chr11:72294451 [GRCh38]
Chr11:72005495 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.9G>A (p.Gly3=) single nucleotide variant 3-methylglutaconic aciduria, type VIIB [RCV003589265] Chr11:72434466 [GRCh38]
Chr11:72145510 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001258392.3(CLPB):c.964A>G (p.Ser322Gly) single nucleotide variant CLPB-related condition [RCV003896821] Chr11:72317130 [GRCh38]
Chr11:72028174 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_030813.6(CLPB):c.676A>G (p.Ile226Val) single nucleotide variant not provided [RCV003885869] Chr11:72372985 [GRCh38]
Chr11:72084029 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.1455G>T (p.Glu485Asp) single nucleotide variant Inborn genetic diseases [RCV004437270] Chr11:72295523 [GRCh38]
Chr11:72006567 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.761A>C (p.Glu254Ala) single nucleotide variant Inborn genetic diseases [RCV004437272] Chr11:72358894 [GRCh38]
Chr11:72069938 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.722A>T (p.His241Leu) single nucleotide variant Inborn genetic diseases [RCV004437271] Chr11:72358933 [GRCh38]
Chr11:72069977 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001258392.3(CLPB):c.782A>G (p.Asn261Ser) single nucleotide variant Inborn genetic diseases [RCV004437274] Chr11:72329798 [GRCh38]
Chr11:72040842 [GRCh37]
Chr11:11q13.4		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4686
Count of miRNA genes:1061
Interacting mature miRNAs:1327
Transcripts:ENST00000294053, ENST00000340729, ENST00000437826, ENST00000445069, ENST00000535477, ENST00000535990, ENST00000536297, ENST00000538021, ENST00000538039, ENST00000539148, ENST00000542555, ENST00000543042, ENST00000544382, ENST00000544683
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH104371  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371172,071,941 - 72,072,116UniSTSGRCh37
Build 361171,749,589 - 71,749,764RGDNCBI36
Celera1169,373,300 - 69,373,475RGD
Cytogenetic Map11q13.4UniSTS
HuRef1168,365,054 - 68,365,229UniSTS
GeneMap99-GB4 RH Map11262.86UniSTS
SHGC-80623  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371172,020,182 - 72,020,526UniSTSGRCh37
Build 361171,697,830 - 71,698,174RGDNCBI36
Celera1169,321,592 - 69,321,936RGD
Cytogenetic Map11q13.4UniSTS
HuRef1168,313,297 - 68,313,641UniSTS
TNG Radiation Hybrid Map1132407.0UniSTS
D11S3830  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371172,115,806 - 72,115,921UniSTSGRCh37
Build 361171,793,454 - 71,793,569RGDNCBI36
Celera1169,417,160 - 69,417,275RGD
Cytogenetic Map11q13.4UniSTS
HuRef1168,408,888 - 68,409,003UniSTS
SHGC-145253  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371172,089,707 - 72,089,929UniSTSGRCh37
Build 361171,767,355 - 71,767,577RGDNCBI36
Celera1169,391,061 - 69,391,283RGD
Cytogenetic Map11q13.4UniSTS
HuRef1168,382,822 - 68,383,044UniSTS
TNG Radiation Hybrid Map1132452.0UniSTS
SHGC-112018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371172,068,037 - 72,068,372UniSTSGRCh37
Build 361171,745,685 - 71,746,020RGDNCBI36
Celera1169,369,446 - 69,369,781RGD
Cytogenetic Map11q13.4UniSTS
HuRef1168,361,148 - 68,361,483UniSTS
TNG Radiation Hybrid Map1132430.0UniSTS
SHGC-173269  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371172,069,200 - 72,069,534UniSTSGRCh37
Build 361171,746,848 - 71,747,182RGDNCBI36
Celera1169,370,609 - 69,370,943RGD
Cytogenetic Map11q13.4UniSTS
HuRef1168,362,311 - 68,362,645UniSTS
TNG Radiation Hybrid Map1132433.0UniSTS
STS-Z40910  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371172,004,359 - 72,004,419UniSTSGRCh37
Build 361171,682,007 - 71,682,067RGDNCBI36
Celera1169,305,769 - 69,305,829RGD
Cytogenetic Map11q13.4UniSTS
HuRef1168,297,484 - 68,297,544UniSTS
GeneMap99-GB4 RH Map11262.45UniSTS
NCBI RH Map11604.5UniSTS
SHGC-57720  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371172,036,085 - 72,036,181UniSTSGRCh37
Build 361171,713,733 - 71,713,829RGDNCBI36
Celera1169,337,495 - 69,337,591RGD
Cytogenetic Map11q13.4UniSTS
HuRef1168,329,200 - 68,329,296UniSTS
TNG Radiation Hybrid Map1132418.0UniSTS
A008U48  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371172,145,397 - 72,145,503UniSTSGRCh37
Build 361171,823,045 - 71,823,151RGDNCBI36
Celera1169,446,743 - 69,446,849RGD
Cytogenetic Map11q13.4UniSTS
HuRef1168,438,479 - 68,438,585UniSTS
GeneMap99-GB4 RH Map11263.07UniSTS
NCBI RH Map11616.1UniSTS
MARC_6997-6998:996689895:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371172,005,066 - 72,005,445UniSTSGRCh37
Build 361171,682,714 - 71,683,093RGDNCBI36
Celera1169,306,476 - 69,306,855RGD
HuRef1168,298,191 - 68,298,570UniSTS
SHGC-111311  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q13.4UniSTS
HuRef1168,360,476 - 68,360,803UniSTS
TNG Radiation Hybrid Map1132426.0UniSTS
D11S490  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q13.4UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 184 16 238 97 571 100 306 74 195 159 622 360 9 23 26 5 1
Low 2255 2929 1487 526 1380 364 4051 2078 3525 260 838 1253 166 1 1181 2762 1 1
Below cutoff 46 1 1 1 45 14

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK023214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI560251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU848809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC396265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000294053   ⟹   ENSP00000294053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1172,285,495 - 72,434,531 (-)Ensembl
RefSeq Acc Id: ENST00000340729   ⟹   ENSP00000340385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1172,293,303 - 72,434,534 (-)Ensembl
RefSeq Acc Id: ENST00000437826   ⟹   ENSP00000407296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1172,292,425 - 72,434,680 (-)Ensembl
RefSeq Acc Id: ENST00000445069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1172,354,267 - 72,434,613 (-)Ensembl
RefSeq Acc Id: ENST00000535477   ⟹   ENSP00000440423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1172,293,309 - 72,434,640 (-)Ensembl
RefSeq Acc Id: ENST00000535990   ⟹   ENSP00000443822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1172,293,303 - 72,434,680 (-)Ensembl
RefSeq Acc Id: ENST00000536297   ⟹   ENSP00000441804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1172,356,881 - 72,380,302 (-)Ensembl
RefSeq Acc Id: ENST00000538021   ⟹   ENSP00000445180
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1172,293,310 - 72,308,584 (-)Ensembl
RefSeq Acc Id: ENST00000538039   ⟹   ENSP00000441518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1172,285,495 - 72,434,531 (-)Ensembl
RefSeq Acc Id: ENST00000539148   ⟹   ENSP00000445327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1172,329,785 - 72,430,445 (-)Ensembl
RefSeq Acc Id: ENST00000542555   ⟹   ENSP00000496231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1172,428,806 - 72,434,474 (-)Ensembl
RefSeq Acc Id: ENST00000543042   ⟹   ENSP00000439746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1172,293,303 - 72,434,607 (-)Ensembl
RefSeq Acc Id: ENST00000544382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1172,294,621 - 72,359,206 (-)Ensembl
RefSeq Acc Id: ENST00000544683   ⟹   ENSP00000442651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1172,317,198 - 72,430,494 (-)Ensembl
RefSeq Acc Id: ENST00000642187   ⟹   ENSP00000494594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1172,293,300 - 72,380,326 (-)Ensembl
RefSeq Acc Id: ENST00000642288   ⟹   ENSP00000495167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1172,294,346 - 72,430,421 (-)Ensembl
RefSeq Acc Id: ENST00000645105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1172,293,297 - 72,332,954 (-)Ensembl
RefSeq Acc Id: ENST00000645650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1172,302,308 - 72,352,566 (-)Ensembl
RefSeq Acc Id: ENST00000646117   ⟹   ENSP00000495421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1172,336,615 - 72,434,629 (-)Ensembl
RefSeq Acc Id: ENST00000646359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1172,293,310 - 72,304,197 (-)Ensembl
RefSeq Acc Id: ENST00000695924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1172,293,323 - 72,434,545 (-)Ensembl
RefSeq Acc Id: ENST00000695925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1172,293,345 - 72,434,545 (-)Ensembl
RefSeq Acc Id: ENST00000695926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1172,316,503 - 72,434,545 (-)Ensembl
RefSeq Acc Id: NM_001258392   ⟹   NP_001245321
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381172,285,495 - 72,434,531 (-)NCBI
GRCh371172,003,469 - 72,145,724 (-)NCBI
HuRef1168,296,594 - 68,438,806 (-)NCBI
CHM1_11171,886,780 - 72,028,990 (-)NCBI
T2T-CHM13v2.01172,211,988 - 72,361,006 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001258393   ⟹   NP_001245322
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381172,285,495 - 72,434,531 (-)NCBI
GRCh371172,003,469 - 72,145,724 (-)NCBI
HuRef1168,296,594 - 68,438,806 (-)NCBI
CHM1_11171,886,780 - 72,028,990 (-)NCBI
T2T-CHM13v2.01172,211,988 - 72,361,006 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001258394   ⟹   NP_001245323
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381172,285,495 - 72,434,531 (-)NCBI
GRCh371172,003,469 - 72,145,724 (-)NCBI
HuRef1168,296,594 - 68,438,806 (-)NCBI
CHM1_11171,886,780 - 72,028,990 (-)NCBI
T2T-CHM13v2.01172,211,988 - 72,361,006 (-)NCBI
Sequence:
RefSeq Acc Id: NM_030813   ⟹   NP_110440
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381172,285,495 - 72,434,531 (-)NCBI
GRCh371172,003,469 - 72,145,724 (-)NCBI
Build 361171,681,117 - 71,823,216 (-)NCBI Archive
Celera1169,304,879 - 69,446,914 (-)RGD
HuRef1168,296,594 - 68,438,806 (-)NCBI
CHM1_11171,886,780 - 72,028,990 (-)NCBI
T2T-CHM13v2.01172,211,988 - 72,361,006 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274320   ⟹   XP_005274377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381172,285,495 - 72,434,531 (-)NCBI
GRCh371172,003,469 - 72,145,724 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545289   ⟹   XP_011543591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381172,308,526 - 72,434,531 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047427655   ⟹   XP_047283611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381172,285,495 - 72,434,531 (-)NCBI
RefSeq Acc Id: XM_047427656   ⟹   XP_047283612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381172,285,495 - 72,434,531 (-)NCBI
RefSeq Acc Id: XM_054370076   ⟹   XP_054226051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01172,211,988 - 72,361,006 (-)NCBI
RefSeq Acc Id: XM_054370077   ⟹   XP_054226052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01172,211,988 - 72,361,006 (-)NCBI
RefSeq Acc Id: XM_054370078   ⟹   XP_054226053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01172,211,988 - 72,361,006 (-)NCBI
RefSeq Acc Id: XM_054370079   ⟹   XP_054226054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01172,234,986 - 72,361,006 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001245321 (Get FASTA)   NCBI Sequence Viewer  
  NP_001245322 (Get FASTA)   NCBI Sequence Viewer  
  NP_001245323 (Get FASTA)   NCBI Sequence Viewer  
  NP_110440 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274377 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543591 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283611 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283612 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226051 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226052 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226053 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226054 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH06257 (Get FASTA)   NCBI Sequence Viewer  
  AAH06404 (Get FASTA)   NCBI Sequence Viewer  
  AEE61148 (Get FASTA)   NCBI Sequence Viewer  
  BAB14467 (Get FASTA)   NCBI Sequence Viewer  
  BAG63409 (Get FASTA)   NCBI Sequence Viewer  
  BAG63459 (Get FASTA)   NCBI Sequence Viewer  
  BAG63526 (Get FASTA)   NCBI Sequence Viewer  
  CAB66843 (Get FASTA)   NCBI Sequence Viewer  
  CAD39142 (Get FASTA)   NCBI Sequence Viewer  
  EAW74858 (Get FASTA)   NCBI Sequence Viewer  
  EAW74859 (Get FASTA)   NCBI Sequence Viewer  
  EAW74860 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000294053
  ENSP00000294053.3
  ENSP00000340385
  ENSP00000340385.5
  ENSP00000439746.2
  ENSP00000440423.2
  ENSP00000441518
  ENSP00000441518.1
  ENSP00000441804.1
  ENSP00000442651.1
  ENSP00000443822.2
  ENSP00000445180.2
  ENSP00000445327.1
  ENSP00000494594.1
  ENSP00000495167.1
  ENSP00000495421.1
  ENSP00000496231.2
GenBank Protein Q9H078 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_110440   ⟸   NM_030813
- Peptide Label: isoform 1
- UniProtKB: Q8ND11 (UniProtKB/Swiss-Prot),   F8W7P6 (UniProtKB/Swiss-Prot),   E7EWN6 (UniProtKB/Swiss-Prot),   B4DXW4 (UniProtKB/Swiss-Prot),   B4DXP7 (UniProtKB/Swiss-Prot),   B4DXJ7 (UniProtKB/Swiss-Prot),   Q9H8Y0 (UniProtKB/Swiss-Prot),   Q9H078 (UniProtKB/Swiss-Prot),   A0A140VK11 (UniProtKB/TrEMBL),   A0A2U3TZY2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001245322   ⟸   NM_001258393
- Peptide Label: isoform 3
- UniProtKB: A0A2U3TZY2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001245321   ⟸   NM_001258392
- Peptide Label: isoform 2
- UniProtKB: A0A2U3TZY2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001245323   ⟸   NM_001258394
- Peptide Label: isoform 4
- UniProtKB: Q9H078 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274377   ⟸   XM_005274320
- Peptide Label: isoform X1
- UniProtKB: A0A2U3TZY2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543591   ⟸   XM_011545289
- Peptide Label: isoform X4
- UniProtKB: A0A2R8Y6R5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000407296   ⟸   ENST00000437826
RefSeq Acc Id: ENSP00000496231   ⟸   ENST00000542555
RefSeq Acc Id: ENSP00000439746   ⟸   ENST00000543042
RefSeq Acc Id: ENSP00000294053   ⟸   ENST00000294053
RefSeq Acc Id: ENSP00000442651   ⟸   ENST00000544683
RefSeq Acc Id: ENSP00000440423   ⟸   ENST00000535477
RefSeq Acc Id: ENSP00000443822   ⟸   ENST00000535990
RefSeq Acc Id: ENSP00000441804   ⟸   ENST00000536297
RefSeq Acc Id: ENSP00000441518   ⟸   ENST00000538039
RefSeq Acc Id: ENSP00000445180   ⟸   ENST00000538021
RefSeq Acc Id: ENSP00000495167   ⟸   ENST00000642288
RefSeq Acc Id: ENSP00000494594   ⟸   ENST00000642187
RefSeq Acc Id: ENSP00000445327   ⟸   ENST00000539148
RefSeq Acc Id: ENSP00000340385   ⟸   ENST00000340729
RefSeq Acc Id: ENSP00000495421   ⟸   ENST00000646117
RefSeq Acc Id: XP_047283611   ⟸   XM_047427655
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047283612   ⟸   XM_047427656
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054226051   ⟸   XM_054370076
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054226052   ⟸   XM_054370077
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054226053   ⟸   XM_054370078
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054226054   ⟸   XM_054370079
- Peptide Label: isoform X4
Protein Domains
AAA+ ATPase   Clp ATPase C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H078-F1-model_v2 AlphaFold Q9H078 1-707 view protein structure

Promoters
RGD ID:6788629
Promoter ID:HG_KWN:13632
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC001OSI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361171,697,561 - 71,698,061 (-)MPROMDB
RGD ID:6788642
Promoter ID:HG_KWN:13633
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_030813,   UC001OSK.1,   UC009YTG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361171,822,869 - 71,823,369 (-)MPROMDB
RGD ID:7221445
Promoter ID:EPDNEW_H16468
Type:initiation region
Name:CLPB_2
Description:ClpB homolog, mitochondrial AAA ATPase chaperonin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16469  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381172,308,608 - 72,308,668EPDNEW
RGD ID:7221449
Promoter ID:EPDNEW_H16469
Type:initiation region
Name:CLPB_1
Description:ClpB homolog, mitochondrial AAA ATPase chaperonin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16468  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381172,434,528 - 72,434,588EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30664 AgrOrtholog
COSMIC CLPB COSMIC
Ensembl Genes ENSG00000162129 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000294053 ENTREZGENE
  ENST00000294053.9 UniProtKB/Swiss-Prot
  ENST00000340729 ENTREZGENE
  ENST00000340729.9 UniProtKB/Swiss-Prot
  ENST00000535477.6 UniProtKB/TrEMBL
  ENST00000535990.6 UniProtKB/TrEMBL
  ENST00000536297.1 UniProtKB/TrEMBL
  ENST00000538021.5 UniProtKB/TrEMBL
  ENST00000538039 ENTREZGENE
  ENST00000538039.6 UniProtKB/Swiss-Prot
  ENST00000539148.3 UniProtKB/TrEMBL
  ENST00000542555.3 UniProtKB/TrEMBL
  ENST00000543042.6 UniProtKB/TrEMBL
  ENST00000544683.5 UniProtKB/TrEMBL
  ENST00000642187.1 UniProtKB/TrEMBL
  ENST00000642288.1 UniProtKB/TrEMBL
  ENST00000646117.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.8.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000162129 GTEx
HGNC ID HGNC:30664 ENTREZGENE
Human Proteome Map CLPB Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_AAA_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Clp_ATPase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ClpA/B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:81570 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 81570 ENTREZGENE
OMIM 616254 OMIM
PANTHER ANK_REP_REGION DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  ANK_REP_REGION DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 39-RELATED UniProtKB/TrEMBL
  ANKYRIN REPEAT PROTEIN UniProtKB/TrEMBL
  ATP-DEPENDENT CLP PROTEASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CASEINOLYTIC PEPTIDASE B PROTEIN HOMOLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L-ASPARAGINASE UniProtKB/TrEMBL
  SI:CH211-189E2.2 UniProtKB/TrEMBL
Pfam AAA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ank UniProtKB/TrEMBL
  Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ank_5 UniProtKB/TrEMBL
  ClpB_D2-small UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672092 PharmGKB
PRINTS CLPPROTEASEA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ClpB_D2-small UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VK11 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8Y602_HUMAN UniProtKB/TrEMBL
  A0A2R8Y6R5 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8Y7E8_HUMAN UniProtKB/TrEMBL
  A0A2R8YDH5_HUMAN UniProtKB/TrEMBL
  A0A2U3TZY2 ENTREZGENE, UniProtKB/TrEMBL
  B4DXJ7 ENTREZGENE
  B4DXP7 ENTREZGENE
  B4DXW4 ENTREZGENE
  CLPB_HUMAN UniProtKB/Swiss-Prot
  E7EWN6 ENTREZGENE
  F5GX99_HUMAN UniProtKB/TrEMBL
  F5H392_HUMAN UniProtKB/TrEMBL
  F5H7A5_HUMAN UniProtKB/TrEMBL
  F6SS08_HUMAN UniProtKB/TrEMBL
  F8W7P6 ENTREZGENE
  H0YG50_HUMAN UniProtKB/TrEMBL
  H0YGM0_HUMAN UniProtKB/TrEMBL
  Q7Z777_HUMAN UniProtKB/TrEMBL
  Q8ND11 ENTREZGENE
  Q9H078 ENTREZGENE
  Q9H8Y0 ENTREZGENE
UniProt Secondary B4DXJ7 UniProtKB/Swiss-Prot
  B4DXP7 UniProtKB/Swiss-Prot
  B4DXW4 UniProtKB/Swiss-Prot
  E7EWN6 UniProtKB/Swiss-Prot
  F8W7P6 UniProtKB/Swiss-Prot
  Q8ND11 UniProtKB/Swiss-Prot
  Q9H8Y0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-04-03 CLPB  ClpB family mitochondrial disaggregase  CLPB  caseinolytic mitochondrial matrix peptidase chaperone subunit B  Symbol and/or name change 19259463 PROVISIONAL
2019-10-16 CLPB  caseinolytic mitochondrial matrix peptidase chaperone subunit B  CLPB  ClpB homolog, mitochondrial AAA ATPase chaperonin  Symbol and/or name change 5135510 APPROVED
2015-03-25 CLPB  ClpB homolog, mitochondrial AAA ATPase chaperonin    ClpB caseinolytic peptidase B homolog (E. coli)  Symbol and/or name change 5135510 APPROVED