DNAJB2 (DnaJ heat shock protein family (Hsp40) member B2) - Rat Genome Database

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Gene: DNAJB2 (DnaJ heat shock protein family (Hsp40) member B2) Homo sapiens
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Symbol: DNAJB2
Name: DnaJ heat shock protein family (Hsp40) member B2
RGD ID: 1318848
HGNC Page HGNC:5228
Description: Enables several functions, including Hsp70 protein binding activity; enzyme binding activity; and modification-dependent protein binding activity. Involved in several processes, including proteasomal protein catabolic process; protein folding; and regulation of protein metabolic process. Located in several cellular components, including nuclear membrane; perinuclear region of cytoplasm; and proteasome complex. Implicated in autosomal recessive distal hereditary motor neuronopathy 5.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CMT2T; DnaJ (Hsp40) homolog, subfamily B, member 2; dnaJ homolog subfamily B member 2; dnaJ protein homolog 1; DSMA5; heat shock 40 kDa protein 3; heat shock protein J1; heat shock protein, neuronal DNAJ-like 1; HMNR5; HSJ-1; HSJ1; HSPF3
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
GRCh382219,279,366 - 219,286,895 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2219,279,342 - 219,286,898 (+)EnsemblGRCh38hg38GRCh38
GRCh372220,144,088 - 220,151,617 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,852,284 - 219,859,866 (+)NCBINCBI36Build 36hg18NCBI36
Build 342219,969,602 - 219,977,127NCBI
Celera2213,913,742 - 213,921,325 (+)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2211,997,126 - 212,004,708 (+)NCBIHuRef
CHM1_12220,149,887 - 220,157,470 (+)NCBICHM1_1
T2T-CHM13v2.02219,764,122 - 219,771,651 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1599432   PMID:7957263   PMID:8889548   PMID:9553041   PMID:10516435   PMID:11147971   PMID:12107410   PMID:12477932   PMID:12754272   PMID:14751250   PMID:14759258   PMID:15231748  
PMID:15489334   PMID:15936278   PMID:16604191   PMID:17082820   PMID:17207965   PMID:17601350   PMID:17847007   PMID:18321953   PMID:18977241   PMID:19285159   PMID:20301462   PMID:20301532  
PMID:20395441   PMID:20889486   PMID:21231916   PMID:21625540   PMID:21719532   PMID:21873635   PMID:22190034   PMID:22219199   PMID:22396390   PMID:22522442   PMID:23752268   PMID:23940030  
PMID:24023695   PMID:24189400   PMID:25036637   PMID:25201988   PMID:25260751   PMID:25274842   PMID:26186194   PMID:26618866   PMID:26936937   PMID:27449489   PMID:27591049   PMID:28031292  
PMID:28504929   PMID:28514442   PMID:29180619   PMID:29509190   PMID:29791485   PMID:31073040   PMID:31324722   PMID:31682009   PMID:32393512   PMID:32687490   PMID:33567341   PMID:33665565  
PMID:33845483   PMID:33957083   PMID:33961781   PMID:34599178   PMID:35032548   PMID:35286755   PMID:35563538   PMID:35676246   PMID:35914814   PMID:36180527   PMID:36724073   PMID:36746103  
PMID:36880596   PMID:37314216   PMID:37317656   PMID:37704626   PMID:38803224  


Genomics

Comparative Map Data
DNAJB2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382219,279,366 - 219,286,895 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2219,279,342 - 219,286,898 (+)EnsemblGRCh38hg38GRCh38
GRCh372220,144,088 - 220,151,617 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,852,284 - 219,859,866 (+)NCBINCBI36Build 36hg18NCBI36
Build 342219,969,602 - 219,977,127NCBI
Celera2213,913,742 - 213,921,325 (+)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2211,997,126 - 212,004,708 (+)NCBIHuRef
CHM1_12220,149,887 - 220,157,470 (+)NCBICHM1_1
T2T-CHM13v2.02219,764,122 - 219,771,651 (+)NCBIT2T-CHM13v2.0
Dnajb2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39175,213,039 - 75,222,336 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl175,213,050 - 75,222,336 (+)EnsemblGRCm39 Ensembl
GRCm38175,236,395 - 75,245,692 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl175,236,406 - 75,245,692 (+)EnsemblGRCm38mm10GRCm38
MGSCv37175,232,998 - 75,242,267 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36175,119,635 - 75,128,838 (+)NCBIMGSCv36mm8
Celera175,727,318 - 75,736,588 (+)NCBICelera
Cytogenetic Map1C4NCBI
cM Map138.64NCBI
Dnajb2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8984,179,702 - 84,187,942 (+)NCBIGRCr8
mRatBN7.2976,731,060 - 76,739,278 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl976,731,065 - 76,739,277 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx985,175,912 - 85,184,076 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0990,304,803 - 90,312,970 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0988,691,018 - 88,699,186 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0982,436,453 - 82,444,669 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl982,436,458 - 82,444,668 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0982,205,714 - 82,213,930 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4974,517,647 - 74,525,857 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera974,301,465 - 74,309,675 (+)NCBICelera
Cytogenetic Map9q33NCBI
Dnajb2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545314,148,070 - 14,154,670 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545314,147,286 - 14,154,396 (-)NCBIChiLan1.0ChiLan1.0
DNAJB2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213121,909,722 - 121,917,299 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B121,924,702 - 121,932,264 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B106,536,846 - 106,544,430 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B225,127,967 - 225,135,556 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B225,127,967 - 225,135,556 (+)Ensemblpanpan1.1panPan2
DNAJB2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13725,826,496 - 25,834,011 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3725,827,713 - 25,833,144 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3726,652,500 - 26,659,869 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03725,841,856 - 25,849,227 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3725,841,844 - 25,849,222 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13725,746,217 - 25,753,596 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03725,681,582 - 25,688,947 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03725,702,255 - 25,709,637 (+)NCBIUU_Cfam_GSD_1.0
Dnajb2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303175,347,122 - 175,354,398 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365691,689,507 - 1,698,954 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365691,689,926 - 1,697,179 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DNAJB2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15121,319,982 - 121,335,991 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115121,319,897 - 121,335,927 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215134,355,341 - 134,363,197 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DNAJB2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110105,185,987 - 105,193,749 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10105,186,608 - 105,194,574 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604094,203,755 - 94,211,383 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dnajb2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248235,730,386 - 5,738,459 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248235,730,553 - 5,737,668 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DNAJB2
275 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006736.6(DNAJB2):c.446-8G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001173853]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000545361]|not provided [RCV001653910] Chr2:219283125 [GRCh38]
Chr2:220147847 [GRCh37]
Chr2:2q35		 benign
DNAJB2, IVS5DS, G-A, +1 single nucleotide variant Spinal muscular atrophy, distal, autosomal recessive, 5 [RCV000032899] Chr2:2q32-34 pathogenic
NC_000002.11:g.(?_220150706)_(220290732_?)dup duplication Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000552669] Chr2:219285984..219426010 [GRCh38]
Chr2:220150706..220290732 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.-37+10G>C single nucleotide variant not specified [RCV000603070] Chr2:219279528 [GRCh38]
Chr2:220144250 [GRCh37]
Chr2:2q35		 likely benign
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1 copy number loss See cases [RCV000052634] Chr2:219081620..225430308 [GRCh38]
Chr2:219946342..226295024 [GRCh37]
Chr2:219654586..226003268 [NCBI36]
Chr2:2q35-36.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3		 pathogenic
NM_006736.6(DNAJB2):c.66-14C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001173851]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001657788]|not provided [RCV004708010]|not specified [RCV000124747] Chr2:219280564 [GRCh38]
Chr2:220145286 [GRCh37]
Chr2:2q35		 benign
NM_006736.6(DNAJB2):c.230-10G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001173852]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001510941]|not provided [RCV004708011]|not specified [RCV000124748] Chr2:219281929 [GRCh38]
Chr2:220146651 [GRCh37]
Chr2:2q35		 benign
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q35(chr2:219081620-219758878)x3 copy number gain See cases [RCV000138093] Chr2:219081620..219758878 [GRCh38]
Chr2:219946342..220623600 [GRCh37]
Chr2:219654586..220331844 [NCBI36]
Chr2:2q35		 uncertain significance
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3		 pathogenic
NM_006736.6(DNAJB2):c.229+1G>A single nucleotide variant Autosomal recessive distal spinal muscular atrophy 2 [RCV003447120]|Charcot-Marie-Tooth disease [RCV000192265]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000161908] Chr2:219281772 [GRCh38]
Chr2:220146494 [GRCh37]
Chr2:2q35		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys) single nucleotide variant Autosomal recessive distal spinal muscular atrophy 2 [RCV003447121]|Charcot-Marie-Tooth disease [RCV000192266]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000161909] Chr2:219279847 [GRCh38]
Chr2:220144569 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_006736.6(DNAJB2):c.343G>T (p.Glu115Ter) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2T [RCV000191078] Chr2:219282052 [GRCh38]
Chr2:220146774 [GRCh37]
Chr2:2q35		 pathogenic
NM_006736.6(DNAJB2):c.352+1G>A single nucleotide variant Autosomal recessive distal spinal muscular atrophy 2 [RCV003447123]|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV002051587]|Charcot-Marie-Tooth disease [RCV000789088]|DNAJB2-related disorder [RCV003407713]|Inborn genetic diseases [RCV002453731]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000201941]|not provided [RCV002243881] Chr2:219282062 [GRCh38]
Chr2:220146784 [GRCh37]
Chr2:2q35		 pathogenic|uncertain significance
NM_006736.6(DNAJB2):c.230-2A>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001535597]|Inborn genetic diseases [RCV002444871]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000545700]|not provided [RCV000214459] Chr2:219281937 [GRCh38]
Chr2:220146659 [GRCh37]
Chr2:2q35		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_006736.6(DNAJB2):c.473G>T (p.Ser158Ile) single nucleotide variant Inborn genetic diseases [RCV002338696]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001071485]|not provided [RCV000222896] Chr2:219283160 [GRCh38]
Chr2:220147882 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.620-1G>A single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000235055] Chr2:219284631 [GRCh38]
Chr2:220149353 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_006736.6(DNAJB2):c.310del (p.Arg104fs) deletion Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000235093] Chr2:219282018 [GRCh38]
Chr2:220146740 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_006736.6(DNAJB2):c.664G>A (p.Glu222Lys) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000694868]|not provided [RCV000235962] Chr2:219284676 [GRCh38]
Chr2:220149398 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.311G>A (p.Arg104Gln) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000535294]|not provided [RCV000236241] Chr2:219282020 [GRCh38]
Chr2:220146742 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.761A>G (p.Asp254Gly) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001301665]|not provided [RCV000236338] Chr2:219284773 [GRCh38]
Chr2:220149495 [GRCh37]
Chr2:2q35		 pathogenic|uncertain significance
NM_001039550.2(DNAJB2):c.0_229+18del deletion Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000240840] Chr2:219277937..219281788 [GRCh38]
Chr2:220142659..220146510 [GRCh37]
Chr2:2q35		 pathogenic
NM_006736.6(DNAJB2):c.808G>C (p.Gly270Arg) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001082793]|not provided [RCV004708179]|not specified [RCV000376806] Chr2:219284820 [GRCh38]
Chr2:220149542 [GRCh37]
Chr2:2q35		 benign
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1 copy number loss not provided [RCV000585275] Chr2:217374144..227643620 [GRCh37]
Chr2:2q35-36.3		 likely pathogenic
NM_006736.6(DNAJB2):c.730C>T (p.Pro244Ser) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000548716] Chr2:219284742 [GRCh38]
Chr2:220149464 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.571C>T (p.Arg191Trp) single nucleotide variant Inborn genetic diseases [RCV002350360]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000560181]|not provided [RCV004791564] Chr2:219283441 [GRCh38]
Chr2:220148163 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.200G>A (p.Arg67His) single nucleotide variant not specified [RCV000413678] Chr2:219281742 [GRCh38]
Chr2:220146464 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.759G>A (p.Glu253=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173847]|Inborn genetic diseases [RCV002393047]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001480871]|not specified [RCV000445064] Chr2:219284771 [GRCh38]
Chr2:220149493 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.-23C>T single nucleotide variant not provided [RCV004711068]|not specified [RCV000428059] Chr2:219279811 [GRCh38]
Chr2:220144533 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.353-12T>A single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002522710]|not specified [RCV000425027] Chr2:219282825 [GRCh38]
Chr2:220147547 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.787C>T (p.Leu263=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173848]|Inborn genetic diseases [RCV002411291]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000558757]|not provided [RCV003430980]|not specified [RCV000425078] Chr2:219284799 [GRCh38]
Chr2:220149521 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.195C>T (p.Tyr65=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173149]|DNAJB2-related disorder [RCV003912612]|Inborn genetic diseases [RCV002418248]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000530812]|not provided [RCV001705566] Chr2:219281737 [GRCh38]
Chr2:220146459 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.-37+20T>G single nucleotide variant not provided [RCV004710015]|not specified [RCV000433053] Chr2:219279538 [GRCh38]
Chr2:220144260 [GRCh37]
Chr2:2q35		 benign
NM_006736.6(DNAJB2):c.-36-11C>G single nucleotide variant not specified [RCV000426884] Chr2:219279787 [GRCh38]
Chr2:220144509 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.544C>T (p.Arg182Cys) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001851077]|not provided [RCV000441063] Chr2:219283231 [GRCh38]
Chr2:220147953 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.176-17C>G single nucleotide variant not specified [RCV000444658] Chr2:219281701 [GRCh38]
Chr2:220146423 [GRCh37]
Chr2:2q35		 likely benign
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 copy number gain See cases [RCV000448049] Chr2:219966808..237815985 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_006736.6(DNAJB2):c.244C>T (p.Arg82Trp) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001304668]|not provided [RCV000481552] Chr2:219281953 [GRCh38]
Chr2:220146675 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.620-22_620-20del deletion Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003535765]|not specified [RCV000481890] Chr2:219284610..219284612 [GRCh38]
Chr2:220149332..220149334 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.66-21_66-19del microsatellite not specified [RCV000485898] Chr2:219280554..219280556 [GRCh38]
Chr2:220145276..220145278 [GRCh37]
Chr2:2q35		 likely benign
GRCh37/hg19 2q35(chr2:219275536-220266647)x3 copy number gain See cases [RCV000511655] Chr2:219275536..220266647 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.703C>G (p.Gln235Glu) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173846]|DNAJB2-related disorder [RCV003915411]|Inborn genetic diseases [RCV002376939]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000533802]|not provided [RCV001577640]|not specified [RCV000506671] Chr2:219284715 [GRCh38]
Chr2:220149437 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.73C>T (p.Arg25Cys) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000804435]|not provided [RCV000493193] Chr2:219280585 [GRCh38]
Chr2:220145307 [GRCh37]
Chr2:2q35		 pathogenic|uncertain significance
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_006736.6(DNAJB2):c.298G>A (p.Glu100Lys) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173840]|DNAJB2-related disorder [RCV004752946]|Inborn genetic diseases [RCV002438470]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000556833]|not provided [RCV001683582] Chr2:219282007 [GRCh38]
Chr2:220146729 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_006736.6(DNAJB2):c.717C>A (p.Thr239=) single nucleotide variant Inborn genetic diseases [RCV002377255]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000877656]|not provided [RCV001704747] Chr2:219284729 [GRCh38]
Chr2:220149451 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.184C>T (p.Arg62Trp) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000650585] Chr2:219281726 [GRCh38]
Chr2:220146448 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.830G>A (p.Arg277Gln) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001446146] Chr2:219284842 [GRCh38]
Chr2:220149564 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.249A>G (p.Ala83=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173150]|Inborn genetic diseases [RCV002424524]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000650587] Chr2:219281958 [GRCh38]
Chr2:220146680 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.445+8C>T single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000650589] Chr2:219282937 [GRCh38]
Chr2:220147659 [GRCh37]
Chr2:2q35		 likely pathogenic|likely benign
NM_006736.6(DNAJB2):c.147G>A (p.Val49=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001439487] Chr2:219280659 [GRCh38]
Chr2:220145381 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.226A>C (p.Thr76Pro) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000650584]|not provided [RCV001756090] Chr2:219281768 [GRCh38]
Chr2:220146490 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.245G>C (p.Arg82Pro) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000650583] Chr2:219281954 [GRCh38]
Chr2:220146676 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.-35C>G single nucleotide variant not specified [RCV000599666] Chr2:219279799 [GRCh38]
Chr2:220144521 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.66-4G>A single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000937183]|not provided [RCV001698430] Chr2:219280574 [GRCh38]
Chr2:220145296 [GRCh37]
Chr2:2q35		 likely benign
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1 copy number loss not provided [RCV000682163] Chr2:218813434..227450699 [GRCh37]
Chr2:2q35-36.3		 pathogenic
NM_006736.6(DNAJB2):c.386G>A (p.Arg129Gln) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000687943] Chr2:219282870 [GRCh38]
Chr2:220147592 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.65C>A (p.Ala22Glu) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000706807] Chr2:219279898 [GRCh38]
Chr2:220144620 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.196G>A (p.Asp66Asn) single nucleotide variant Inborn genetic diseases [RCV002422575]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000701834]|not provided [RCV002245608] Chr2:219281738 [GRCh38]
Chr2:220146460 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.529C>T (p.Arg177Cys) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000690337] Chr2:219283216 [GRCh38]
Chr2:220147938 [GRCh37]
Chr2:2q35		 uncertain significance
NC_000002.11:g.(?_219135239)_(220290732_?)del deletion Desmin-related myofibrillar myopathy [RCV000707774] Chr2:219135239..220290732 [GRCh37]
Chr2:2q35		 pathogenic
NM_006736.6(DNAJB2):c.548G>A (p.Arg183Lys) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000688800] Chr2:219283235 [GRCh38]
Chr2:220147957 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.71G>A (p.Arg24Gln) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000705830] Chr2:219280583 [GRCh38]
Chr2:220145305 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.493C>T (p.Arg165Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173146]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000695748] Chr2:219283180 [GRCh38]
Chr2:220147902 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.197_205del (p.Asp66_Tyr68del) deletion Inborn genetic diseases [RCV002422553]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000699265] Chr2:219281738..219281746 [GRCh38]
Chr2:220146460..220146468 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.524A>G (p.Gln175Arg) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000703730] Chr2:219283211 [GRCh38]
Chr2:220147933 [GRCh37]
Chr2:2q35		 uncertain significance
Single allele deletion Polydactyly [RCV000736029] Chr2:219925666..220914504 [GRCh37]
Chr2:2q35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_006736.6(DNAJB2):c.446-46TCT[2] microsatellite not provided [RCV001567687] Chr2:219283087..219283089 [GRCh38]
Chr2:220147809..220147811 [GRCh37]
Chr2:2q35		 likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_006736.6(DNAJB2):c.619+69C>T single nucleotide variant not provided [RCV001546660] Chr2:219283558 [GRCh38]
Chr2:220148280 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.446-2A>G single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000761527] Chr2:219283131 [GRCh38]
Chr2:220147853 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_006736.6(DNAJB2):c.*78C>G single nucleotide variant not provided [RCV001586227] Chr2:219285065 [GRCh38]
Chr2:220149787 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.549-4A>G single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001455965] Chr2:219283415 [GRCh38]
Chr2:220148137 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.705G>A (p.Gln235=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001458666] Chr2:219284717 [GRCh38]
Chr2:220149439 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.548+7G>C single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001440014] Chr2:219283242 [GRCh38]
Chr2:220147964 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.89G>A (p.Trp30Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173145]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001062107] Chr2:219280601 [GRCh38]
Chr2:220145323 [GRCh37]
Chr2:2q35		 pathogenic|uncertain significance
NM_006736.6(DNAJB2):c.43T>C (p.Ser15Pro) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001036092] Chr2:219279876 [GRCh38]
Chr2:220144598 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.548+5G>A single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001060962] Chr2:219283240 [GRCh38]
Chr2:220147962 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.303G>A (p.Glu101=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001455947] Chr2:219282012 [GRCh38]
Chr2:220146734 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.297C>T (p.Pro99=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001493146] Chr2:219282006 [GRCh38]
Chr2:220146728 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.446-9C>T single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000872210] Chr2:219283124 [GRCh38]
Chr2:220147846 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.352+8G>C single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000876190] Chr2:219282069 [GRCh38]
Chr2:220146791 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.757G>C (p.Glu253Gln) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000797545]|not provided [RCV004693273] Chr2:219284769 [GRCh38]
Chr2:220149491 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.408CTT[1] (p.Phe138del) microsatellite Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000797598] Chr2:219282892..219282894 [GRCh38]
Chr2:220147614..220147616 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.754G>C (p.Asp252His) single nucleotide variant Inborn genetic diseases [RCV002388466]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000799389] Chr2:219284766 [GRCh38]
Chr2:220149488 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.176-38C>T single nucleotide variant not provided [RCV000833323] Chr2:219281680 [GRCh38]
Chr2:219281680..219281681 [GRCh38]
Chr2:220146402 [GRCh37]
Chr2:220146402..220146403 [GRCh37]
Chr2:2q35		 benign
NM_006736.6(DNAJB2):c.446-88C>T single nucleotide variant not provided [RCV000834825] Chr2:219283045 [GRCh38]
Chr2:220147767 [GRCh37]
Chr2:2q35		 benign
NM_006736.6(DNAJB2):c.175+2T>A single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000808455]|not provided [RCV004792498] Chr2:219280689 [GRCh38]
Chr2:220145411 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_006736.6(DNAJB2):c.352+325G>T single nucleotide variant not provided [RCV000830881] Chr2:219282386 [GRCh38]
Chr2:220147108 [GRCh37]
Chr2:2q35		 benign
NM_006736.6(DNAJB2):c.674C>T (p.Pro225Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173147]|Inborn genetic diseases [RCV002370121]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000802258] Chr2:219284686 [GRCh38]
Chr2:220149408 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.190A>G (p.Ile64Val) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000818692] Chr2:219281732 [GRCh38]
Chr2:220146454 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.175+228A>G single nucleotide variant not provided [RCV000831790] Chr2:219280915 [GRCh38]
Chr2:220145637 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.-36-110G>C single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001664477]|not provided [RCV000840551] Chr2:219279688 [GRCh38]
Chr2:220144410 [GRCh37]
Chr2:2q35		 benign
NM_006736.6(DNAJB2):c.176-244G>T single nucleotide variant not provided [RCV000840552] Chr2:219281474 [GRCh38]
Chr2:220146196 [GRCh37]
Chr2:2q35		 benign
NM_006736.6(DNAJB2):c.445+81C>T single nucleotide variant not provided [RCV000840553] Chr2:219283010 [GRCh38]
Chr2:220147732 [GRCh37]
Chr2:2q35		 benign
NM_006736.6(DNAJB2):c.555G>A (p.Met185Ile) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000811830] Chr2:219283425 [GRCh38]
Chr2:220148147 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.199C>T (p.Arg67Cys) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001045615] Chr2:219281741 [GRCh38]
Chr2:220146463 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.385C>T (p.Arg129Trp) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001391764]|not provided [RCV004792571] Chr2:219282869 [GRCh38]
Chr2:220147591 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3		 pathogenic
NM_006736.6(DNAJB2):c.323G>C (p.Gly108Ala) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000814010] Chr2:219282032 [GRCh38]
Chr2:220146754 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.446-4C>A single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001475610] Chr2:219283129 [GRCh38]
Chr2:220147851 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.199C>A (p.Arg67Ser) single nucleotide variant Inborn genetic diseases [RCV002415949]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000824121]|not provided [RCV004792543] Chr2:219281741 [GRCh38]
Chr2:220146463 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.203A>G (p.Tyr68Cys) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001045259] Chr2:219281745 [GRCh38]
Chr2:220146467 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35(chr2:219879593-220346596)x3 copy number gain not provided [RCV000847670] Chr2:219879593..220346596 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.729C>T (p.Cys243=) single nucleotide variant not provided [RCV000915083] Chr2:219284741 [GRCh38]
Chr2:220149463 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.353-9T>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001173842] Chr2:219282828 [GRCh38]
Chr2:220147550 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.658C>A (p.Arg220Ser) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001248719] Chr2:219284670 [GRCh38]
Chr2:220149392 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.284C>A (p.Thr95Asn) single nucleotide variant Inborn genetic diseases [RCV004030652]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001067496] Chr2:219281993 [GRCh38]
Chr2:220146715 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.68A>G (p.Tyr23Cys) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001224627] Chr2:219280580 [GRCh38]
Chr2:220145302 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.449T>C (p.Phe150Ser) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001243073] Chr2:219283136 [GRCh38]
Chr2:220147858 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.494G>A (p.Arg165His) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001207303] Chr2:219283181 [GRCh38]
Chr2:220147903 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.659G>A (p.Arg220His) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001201854] Chr2:219284671 [GRCh38]
Chr2:220149393 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.757G>A (p.Glu253Lys) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001095531] Chr2:219284769 [GRCh38]
Chr2:220149491 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_006736.6(DNAJB2):c.352+36T>G single nucleotide variant not provided [RCV001569122] Chr2:219282097 [GRCh38]
Chr2:220146819 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.-37+75C>T single nucleotide variant not provided [RCV001548545] Chr2:219279593 [GRCh38]
Chr2:220144315 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.*1272G>C single nucleotide variant not provided [RCV001567501] Chr2:219286259 [GRCh38]
Chr2:220150981 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.176-296T>C single nucleotide variant not provided [RCV001550729] Chr2:219281422 [GRCh38]
Chr2:220146144 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.*1072G>A single nucleotide variant not provided [RCV001682396] Chr2:219286059 [GRCh38]
Chr2:220150781 [GRCh37]
Chr2:2q35		 benign
NM_006736.6(DNAJB2):c.*1267C>T single nucleotide variant not provided [RCV001609853] Chr2:219286254 [GRCh38]
Chr2:220150976 [GRCh37]
Chr2:2q35		 benign
NM_006736.6(DNAJB2):c.-36-92T>C single nucleotide variant not provided [RCV001552837] Chr2:219279706 [GRCh38]
Chr2:220144428 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.176-292T>A single nucleotide variant not provided [RCV001547780] Chr2:219281426 [GRCh38]
Chr2:220146148 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.675G>A (p.Pro225=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000951703] Chr2:219284687 [GRCh38]
Chr2:220149409 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.175+10G>A single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000903865] Chr2:219280697 [GRCh38]
Chr2:220145419 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.420C>T (p.Phe140=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001499753] Chr2:219282904 [GRCh38]
Chr2:220147626 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.549-9C>T single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002540136] Chr2:219283410 [GRCh38]
Chr2:220148132 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.208C>A (p.Arg70=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001242054] Chr2:219281750 [GRCh38]
Chr2:220146472 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_006736.6(DNAJB2):c.476C>G (p.Pro159Arg) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001238888] Chr2:219283163 [GRCh38]
Chr2:220147885 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.70C>T (p.Arg24Trp) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001214562] Chr2:219280582 [GRCh38]
Chr2:220145304 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.454T>C (p.Ser152Pro) single nucleotide variant Inborn genetic diseases [RCV002339580]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001219397] Chr2:219283141 [GRCh38]
Chr2:220147863 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.196G>T (p.Asp66Tyr) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001066553] Chr2:219281738 [GRCh38]
Chr2:220146460 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.208C>T (p.Arg70Trp) single nucleotide variant Inborn genetic diseases [RCV002416357]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001043357] Chr2:219281750 [GRCh38]
Chr2:220146472 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.245G>A (p.Arg82Gln) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001234594] Chr2:219281954 [GRCh38]
Chr2:220146676 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.175+247C>T single nucleotide variant not provided [RCV001576771] Chr2:219280934 [GRCh38]
Chr2:220145656 [GRCh37]
Chr2:2q35		 likely benign
GRCh37/hg19 2q35(chr2:216883237-220953003)x3 copy number gain not provided [RCV001007510] Chr2:216883237..220953003 [GRCh37]
Chr2:2q35		 pathogenic
NM_006736.6(DNAJB2):c.-34C>A single nucleotide variant not provided [RCV001722864] Chr2:219279800 [GRCh38]
Chr2:220144522 [GRCh37]
Chr2:2q35		 benign
NM_006736.6(DNAJB2):c.230-51dup duplication not provided [RCV001597904] Chr2:219281887..219281888 [GRCh38]
Chr2:220146609..220146610 [GRCh37]
Chr2:2q35		 benign
NM_006736.6(DNAJB2):c.868C>G (p.Gln290Glu) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173148] Chr2:219284880 [GRCh38]
Chr2:220149602 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.966C>G (p.Leu322=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173849]|not provided [RCV003883568] Chr2:219284978 [GRCh38]
Chr2:220149700 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.*17G>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001173850]|not provided [RCV001562334] Chr2:219285004 [GRCh38]
Chr2:220149726 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.*1021G>A single nucleotide variant not provided [RCV001582208] Chr2:219286008 [GRCh38]
Chr2:220150730 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.663C>T (p.Arg221=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001060296] Chr2:219284675 [GRCh38]
Chr2:220149397 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_006736.6(DNAJB2):c.530G>A (p.Arg177His) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001235806] Chr2:219283217 [GRCh38]
Chr2:220147939 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.199C>G (p.Arg67Gly) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001218836] Chr2:219281741 [GRCh38]
Chr2:220146463 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.299A>G (p.Glu100Gly) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001237222] Chr2:219282008 [GRCh38]
Chr2:220146730 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.829C>T (p.Arg277Trp) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001054047] Chr2:219284841 [GRCh38]
Chr2:220149563 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.264T>C (p.Gly88=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173839] Chr2:219281973 [GRCh38]
Chr2:220146695 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.352+20C>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001173841] Chr2:219282081 [GRCh38]
Chr2:220146803 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.620-19G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001173845]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003650612] Chr2:219284613 [GRCh38]
Chr2:220149335 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.444C>T (p.Ser148=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173843]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001873621] Chr2:219282928 [GRCh38]
Chr2:220147650 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_006736.6(DNAJB2):c.446-17C>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001173844]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002068095] Chr2:219283116 [GRCh38]
Chr2:220147838 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.446-3C>T single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001218396] Chr2:219283130 [GRCh38]
Chr2:220147852 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.345G>C (p.Glu115Asp) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001035259] Chr2:219282054 [GRCh38]
Chr2:220146776 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.394C>T (p.Arg132Ter) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001072057] Chr2:219282878 [GRCh38]
Chr2:220147600 [GRCh37]
Chr2:2q35		 pathogenic
GRCh37/hg19 2q35-36.3(chr2:220056891-227164817)x1 copy number loss not provided [RCV001537914] Chr2:220056891..227164817 [GRCh37]
Chr2:2q35-36.3		 pathogenic
GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1 copy number loss not provided [RCV001259180] Chr2:215122019..220397907 [GRCh37]
Chr2:2q34-35		 likely pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
NM_006736.6(DNAJB2):c.538A>G (p.Thr180Ala) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001340022] Chr2:219283225 [GRCh38]
Chr2:220147947 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.825T>A (p.Gly275=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001319902] Chr2:219284837 [GRCh38]
Chr2:220149559 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.406C>G (p.Pro136Ala) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001346002]|not provided [RCV004793447] Chr2:219282890 [GRCh38]
Chr2:220147612 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.170C>G (p.Ser57Cys) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001367626] Chr2:219280682 [GRCh38]
Chr2:220145404 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.156A>G (p.Ala52=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001342505] Chr2:219280668 [GRCh38]
Chr2:220145390 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.469T>G (p.Phe157Val) single nucleotide variant Inborn genetic diseases [RCV004619646]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001341467] Chr2:219283156 [GRCh38]
Chr2:220147878 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.176A>G (p.Lys59Arg) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001373138] Chr2:219281718 [GRCh38]
Chr2:220146440 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.233C>G (p.Thr78Ser) single nucleotide variant not provided [RCV001311988] Chr2:219281942 [GRCh38]
Chr2:220146664 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.209G>A (p.Arg70Gln) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001367296] Chr2:219281751 [GRCh38]
Chr2:220146473 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.775A>G (p.Met259Val) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001365630] Chr2:219284787 [GRCh38]
Chr2:220149509 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.411C>G (p.Phe137Leu) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001317550] Chr2:219282895 [GRCh38]
Chr2:220147617 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.756T>C (p.Asp252=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001416787] Chr2:219284768 [GRCh38]
Chr2:220149490 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.411C>T (p.Phe137=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001435684] Chr2:219282895 [GRCh38]
Chr2:220147617 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.708C>T (p.Val236=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001492413] Chr2:219284720 [GRCh38]
Chr2:220149442 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.27C>T (p.Asp9=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001454511] Chr2:219279860 [GRCh38]
Chr2:220144582 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.352+179C>T single nucleotide variant not provided [RCV001537159] Chr2:219282240 [GRCh38]
Chr2:220146962 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.*990C>G single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001448647] Chr2:219285977 [GRCh38]
Chr2:220150699 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.438G>C (p.Gly146=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001408181] Chr2:219282922 [GRCh38]
Chr2:220147644 [GRCh37]
Chr2:2q35		 likely benign
NC_000002.12:g.219279325C>A single nucleotide variant not provided [RCV001610179] Chr2:219279325 [GRCh38]
Chr2:220144047 [GRCh37]
Chr2:2q35		 benign
NM_006736.6(DNAJB2):c.216G>A (p.Gly72=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001499878] Chr2:219281758 [GRCh38]
Chr2:220146480 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.175+9C>T single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001431422] Chr2:219280696 [GRCh38]
Chr2:220145418 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.429C>T (p.Ser143=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001436355] Chr2:219282913 [GRCh38]
Chr2:220147635 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.588G>A (p.Glu196=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001450332] Chr2:219283458 [GRCh38]
Chr2:220148180 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.360G>A (p.Leu120=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001472360] Chr2:219282844 [GRCh38]
Chr2:220147566 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.445G>A (p.Asp149Asn) single nucleotide variant not provided [RCV001767076] Chr2:219282929 [GRCh38]
Chr2:220147651 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.233C>T (p.Thr78Ile) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001803656] Chr2:219281942 [GRCh38]
Chr2:220146664 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.742G>A (p.Asp248Asn) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002009284] Chr2:219284754 [GRCh38]
Chr2:220149476 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.265G>A (p.Gly89Arg) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001891719] Chr2:219281974 [GRCh38]
Chr2:220146696 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_006736.6(DNAJB2):c.289C>T (p.Arg97Cys) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001863320] Chr2:219281998 [GRCh38]
Chr2:220146720 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.625C>T (p.Pro209Ser) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001928791]|not provided [RCV004693972] Chr2:219284637 [GRCh38]
Chr2:220149359 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.455C>G (p.Ser152Cys) single nucleotide variant Inborn genetic diseases [RCV002608052]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001988778]|not provided [RCV003327550] Chr2:219283142 [GRCh38]
Chr2:220147864 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) copy number loss not specified [RCV002053285] Chr2:219606537..239217703 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_006736.6(DNAJB2):c.533G>A (p.Arg178His) single nucleotide variant Inborn genetic diseases [RCV002343965]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001892615] Chr2:219283220 [GRCh38]
Chr2:220147942 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.290G>A (p.Arg97His) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001970235] Chr2:219281999 [GRCh38]
Chr2:220146721 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.805G>A (p.Ala269Thr) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001872301] Chr2:219284817 [GRCh38]
Chr2:220149539 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.583G>C (p.Glu195Gln) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001871348] Chr2:219283453 [GRCh38]
Chr2:220148175 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q34-36.1(chr2:215108009-221679980) copy number gain not specified [RCV002053282] Chr2:215108009..221679980 [GRCh37]
Chr2:2q34-36.1		 pathogenic
NM_006736.6(DNAJB2):c.622G>A (p.Val208Ile) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001979913] Chr2:219284634 [GRCh38]
Chr2:220149356 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.119_120del (p.Glu40fs) microsatellite Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001941373] Chr2:219280629..219280630 [GRCh38]
Chr2:220145351..220145352 [GRCh37]
Chr2:2q35		 pathogenic
NM_006736.6(DNAJB2):c.739A>G (p.Ser247Gly) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001888053] Chr2:219284751 [GRCh38]
Chr2:220149473 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.368T>C (p.Phe123Ser) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002027342] Chr2:219282852 [GRCh38]
Chr2:220147574 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.520G>T (p.Val174Phe) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002049832] Chr2:219283207 [GRCh38]
Chr2:220147929 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.204T>G (p.Tyr68Ter) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001999715] Chr2:219281746 [GRCh38]
Chr2:220146468 [GRCh37]
Chr2:2q35		 pathogenic
NC_000002.11:g.(?_218999525)_(220435954_?)dup duplication Alacrima, achalasia, and intellectual disability syndrome [RCV001955103]|Paroxysmal nonkinesigenic dyskinesia [RCV001962531] Chr2:218999525..220435954 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.74G>A (p.Arg25His) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001934015] Chr2:219280586 [GRCh38]
Chr2:220145308 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.41C>T (p.Ala14Val) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001991839] Chr2:219279874 [GRCh38]
Chr2:220144596 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.187G>A (p.Glu63Lys) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001878120] Chr2:219281729 [GRCh38]
Chr2:220146451 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.509C>T (p.Ser170Phe) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001884938] Chr2:219283196 [GRCh38]
Chr2:220147918 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.559A>T (p.Asn187Tyr) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001977558] Chr2:219283429 [GRCh38]
Chr2:220148151 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.638_649dup (p.Ala213_Leu216dup) duplication Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002033837] Chr2:219284646..219284647 [GRCh38]
Chr2:220149368..220149369 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.827G>A (p.Gly276Glu) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001870091] Chr2:219284839 [GRCh38]
Chr2:220149561 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.4G>A (p.Ala2Thr) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002017708] Chr2:219279837 [GRCh38]
Chr2:220144559 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.446-1G>A single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001956956] Chr2:219283132 [GRCh38]
Chr2:220147854 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_006736.6(DNAJB2):c.337T>C (p.Phe113Leu) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001878592] Chr2:219282046 [GRCh38]
Chr2:220146768 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.561C>T (p.Asn187=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002091372] Chr2:219283431 [GRCh38]
Chr2:220148153 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.426C>T (p.Ser142=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002074929] Chr2:219282910 [GRCh38]
Chr2:220147632 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.63G>A (p.Lys21=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002165821] Chr2:219279896 [GRCh38]
Chr2:220144618 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.548+14C>T single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002089965] Chr2:219283249 [GRCh38]
Chr2:220147971 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.723C>T (p.Ala241=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002128129] Chr2:219284735 [GRCh38]
Chr2:220149457 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.353-4G>A single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002172617] Chr2:219282833 [GRCh38]
Chr2:220147555 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.229+9A>C single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002197291] Chr2:219281780 [GRCh38]
Chr2:220146502 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.175+13G>T single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002125391] Chr2:219280700 [GRCh38]
Chr2:220145422 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.175+9C>G single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002077529] Chr2:219280696 [GRCh38]
Chr2:220145418 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.*981G>A single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002126732] Chr2:219285968 [GRCh38]
Chr2:220150690 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.65+15A>T single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002092730] Chr2:219279913 [GRCh38]
Chr2:220144635 [GRCh37]
Chr2:2q35		 benign
NM_006736.6(DNAJB2):c.*980C>T single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002179389] Chr2:219285967 [GRCh38]
Chr2:220150689 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.783C>T (p.Tyr261=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002219880]|not provided [RCV003438932] Chr2:219284795 [GRCh38]
Chr2:220149517 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.230-15A>C single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002155313] Chr2:219281924 [GRCh38]
Chr2:220146646 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.441C>T (p.His147=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002181509] Chr2:219282925 [GRCh38]
Chr2:220147647 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.693T>G (p.Ser231=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002120633] Chr2:219284705 [GRCh38]
Chr2:220149427 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.237C>T (p.Gly79=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002104130] Chr2:219281946 [GRCh38]
Chr2:220146668 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.229+8G>T single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002118791] Chr2:219281779 [GRCh38]
Chr2:220146501 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.445+9T>A single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002204236] Chr2:219282938 [GRCh38]
Chr2:220147660 [GRCh37]
Chr2:2q35		 likely benign
NC_000002.11:g.(?_220144556)_(220150719_?)dup duplication Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003122373] Chr2:220144556..220150719 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.847C>T (p.Arg283Trp) single nucleotide variant not provided [RCV002263255] Chr2:219284859 [GRCh38]
Chr2:220149581 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.65+1G>A single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002290280] Chr2:219279899 [GRCh38]
Chr2:220144621 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_006736.6(DNAJB2):c.662G>A (p.Arg221His) single nucleotide variant Inborn genetic diseases [RCV002366737] Chr2:219284674 [GRCh38]
Chr2:220149396 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.283A>G (p.Thr95Ala) single nucleotide variant Inborn genetic diseases [RCV002435219] Chr2:219281992 [GRCh38]
Chr2:220146714 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.670C>G (p.Gln224Glu) single nucleotide variant Inborn genetic diseases [RCV002367193] Chr2:219284682 [GRCh38]
Chr2:220149404 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.905G>T (p.Gly302Val) single nucleotide variant not provided [RCV002293042] Chr2:219284917 [GRCh38]
Chr2:220149639 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.671A>C (p.Gln224Pro) single nucleotide variant Inborn genetic diseases [RCV002367234]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003098344] Chr2:219284683 [GRCh38]
Chr2:220149405 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.389G>C (p.Gly130Ala) single nucleotide variant Inborn genetic diseases [RCV002366393] Chr2:219282873 [GRCh38]
Chr2:220147595 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.620G>T (p.Gly207Val) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003011915] Chr2:219284632 [GRCh38]
Chr2:220149354 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.353-24_357del deletion Inborn genetic diseases [RCV002459423] Chr2:219282805..219282833 [GRCh38]
Chr2:220147527..220147555 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.229+2T>A single nucleotide variant Inborn genetic diseases [RCV002446221] Chr2:219281773 [GRCh38]
Chr2:220146495 [GRCh37]
Chr2:2q35		 pathogenic
NM_006736.6(DNAJB2):c.64G>C (p.Ala22Pro) single nucleotide variant Inborn genetic diseases [RCV002364134] Chr2:219279897 [GRCh38]
Chr2:220144619 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.629A>G (p.Asp210Gly) single nucleotide variant Inborn genetic diseases [RCV002353943] Chr2:219284641 [GRCh38]
Chr2:220149363 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.*995C>T single nucleotide variant Inborn genetic diseases [RCV002412545] Chr2:219285982 [GRCh38]
Chr2:220150704 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.649G>C (p.Glu217Gln) single nucleotide variant Inborn genetic diseases [RCV002364122] Chr2:219284661 [GRCh38]
Chr2:220149383 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.548+4A>G single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003073563] Chr2:219283239 [GRCh38]
Chr2:220147961 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.645C>T (p.Gly215=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002866010] Chr2:219284657 [GRCh38]
Chr2:220149379 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.445+17C>T single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002908485] Chr2:219282946 [GRCh38]
Chr2:220147668 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.66-16C>T single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003098981] Chr2:219280562 [GRCh38]
Chr2:220145284 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.459A>C (p.Ser153=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002882199] Chr2:219283146 [GRCh38]
Chr2:220147868 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.839A>G (p.Gln280Arg) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002903707] Chr2:219284851 [GRCh38]
Chr2:220149573 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.154G>A (p.Ala52Thr) single nucleotide variant not provided [RCV002481199] Chr2:219280666 [GRCh38]
Chr2:220145388 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.820G>A (p.Ala274Thr) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002912554] Chr2:219284832 [GRCh38]
Chr2:220149554 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.369C>T (p.Phe123=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003078351] Chr2:219282853 [GRCh38]
Chr2:220147575 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.21C>A (p.Ile7=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003081412] Chr2:219279854 [GRCh38]
Chr2:220144576 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.66-11A>G single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002620448] Chr2:219280567 [GRCh38]
Chr2:220145289 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.554T>C (p.Met185Thr) single nucleotide variant Inborn genetic diseases [RCV002783758] Chr2:219283424 [GRCh38]
Chr2:220148146 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.548+19G>C single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003079615] Chr2:219283254 [GRCh38]
Chr2:220147976 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.641T>C (p.Leu214Pro) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003002013] Chr2:219284653 [GRCh38]
Chr2:220149375 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.445+11C>T single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003053251] Chr2:219282940 [GRCh38]
Chr2:220147662 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.118G>T (p.Glu40Ter) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002571696] Chr2:219280630 [GRCh38]
Chr2:220145352 [GRCh37]
Chr2:2q35		 pathogenic
NM_006736.6(DNAJB2):c.405C>T (p.Gly135=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002574582] Chr2:219282889 [GRCh38]
Chr2:220147611 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.17A>G (p.Glu6Gly) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002643066] Chr2:219279850 [GRCh38]
Chr2:220144572 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.348C>G (p.Leu116=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003023307] Chr2:219282057 [GRCh38]
Chr2:220146779 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.619+16C>T single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002801068] Chr2:219283505 [GRCh38]
Chr2:220148227 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.619+8G>A single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002985464] Chr2:219283497 [GRCh38]
Chr2:220148219 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.*988C>T single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002790500] Chr2:219285975 [GRCh38]
Chr2:220150697 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.572G>A (p.Arg191Gln) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003058840] Chr2:219283442 [GRCh38]
Chr2:220148164 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.640C>T (p.Leu214=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002711065] Chr2:219284652 [GRCh38]
Chr2:220149374 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.582G>A (p.Val194=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002710058] Chr2:219283452 [GRCh38]
Chr2:220148174 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.66-18T>C single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002790828] Chr2:219280560 [GRCh38]
Chr2:220145282 [GRCh37]
Chr2:2q35		 benign
NM_006736.6(DNAJB2):c.819C>T (p.Pro273=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003009091] Chr2:219284831 [GRCh38]
Chr2:220149553 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.65+10T>G single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002598769] Chr2:219279908 [GRCh38]
Chr2:220144630 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.750T>G (p.Ser250=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003027869] Chr2:219284762 [GRCh38]
Chr2:220149484 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.175+11G>T single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002937218] Chr2:219280698 [GRCh38]
Chr2:220145420 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.236G>A (p.Gly79Asp) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003028284] Chr2:219281945 [GRCh38]
Chr2:220146667 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.363C>G (p.Gly121=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002899871] Chr2:219282847 [GRCh38]
Chr2:220147569 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.389G>A (p.Gly130Asp) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002721832] Chr2:219282873 [GRCh38]
Chr2:220147595 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.218T>C (p.Leu73Pro) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002609592] Chr2:219281760 [GRCh38]
Chr2:220146482 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.176-10_176-9del microsatellite Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002606181] Chr2:219281705..219281706 [GRCh38]
Chr2:220146427..220146428 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.99C>G (p.Asp33Glu) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003155535] Chr2:219280611 [GRCh38]
Chr2:220145333 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.65+1G>C single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV004788450] Chr2:219279899 [GRCh38]
Chr2:220144621 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_006736.6(DNAJB2):c.326G>T (p.Ser109Ile) single nucleotide variant Inborn genetic diseases [RCV003199086] Chr2:219282035 [GRCh38]
Chr2:220146757 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.65+5G>T single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003146756] Chr2:219279903 [GRCh38]
Chr2:220144625 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_006736.6(DNAJB2):c.620-6T>C single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003875083] Chr2:219284626 [GRCh38]
Chr2:220149348 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.888G>C (p.Leu296Phe) single nucleotide variant not provided [RCV003440179] Chr2:219284900 [GRCh38]
Chr2:220149622 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_006736.6(DNAJB2):c.175+1G>C single nucleotide variant DNAJB2-related disorder [RCV003412413] Chr2:219280688 [GRCh38]
Chr2:220145410 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_006736.6(DNAJB2):c.96A>G (p.Pro32=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003651745] Chr2:219280608 [GRCh38]
Chr2:220145330 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.230-4C>A single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003653994] Chr2:219281935 [GRCh38]
Chr2:220146657 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.33G>T (p.Pro11=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003651799] Chr2:219279866 [GRCh38]
Chr2:220144588 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.353-1G>C single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003651121] Chr2:219282836 [GRCh38]
Chr2:220147558 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_006736.6(DNAJB2):c.562G>A (p.Gly188Arg) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003650077] Chr2:219283432 [GRCh38]
Chr2:220148154 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.639A>G (p.Ala213=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003652379] Chr2:219284651 [GRCh38]
Chr2:220149373 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.259A>G (p.Ser87Gly) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003650303] Chr2:219281968 [GRCh38]
Chr2:220146690 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.741C>T (p.Ser247=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003651436] Chr2:219284753 [GRCh38]
Chr2:220149475 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.175+19C>G single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003653060] Chr2:219280706 [GRCh38]
Chr2:220145428 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.548+13T>G single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003650114] Chr2:219283248 [GRCh38]
Chr2:220147970 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.928C>T (p.Arg310Cys) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003653176] Chr2:219284940 [GRCh38]
Chr2:220149662 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.176-20G>A single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003535542] Chr2:219281698 [GRCh38]
Chr2:220146420 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.445+1G>A single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003536105] Chr2:219282930 [GRCh38]
Chr2:220147652 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_006736.6(DNAJB2):c.499G>A (p.Val167Ile) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003537764] Chr2:219283186 [GRCh38]
Chr2:220147908 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.230-19C>G single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003539082] Chr2:219281920 [GRCh38]
Chr2:220146642 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.203A>T (p.Tyr68Phe) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003535320] Chr2:219281745 [GRCh38]
Chr2:220146467 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.433C>T (p.Pro145Ser) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003538976] Chr2:219282917 [GRCh38]
Chr2:220147639 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.65+12C>T single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003536405] Chr2:219279910 [GRCh38]
Chr2:220144632 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.425C>T (p.Ser142Phe) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003851335] Chr2:219282909 [GRCh38]
Chr2:220147631 [GRCh37]
Chr2:2q35		 uncertain significance
NM_006736.6(DNAJB2):c.168G>C (p.Leu56=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003536783] Chr2:219280680 [GRCh38]
Chr2:220145402 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.72G>A (p.Arg24=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003536270] Chr2:219280584 [GRCh38]
Chr2:220145306 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.366C>T (p.Pro122=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003843185] Chr2:219282850 [GRCh38]
Chr2:220147572 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.408C>T (p.Pro136=) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003818906] Chr2:219282892 [GRCh38]
Chr2:220147614 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.507A>C (p.Thr169=) single nucleotide variant DNAJB2-related disorder [RCV003956594]|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003822148] Chr2:219283194 [GRCh38]
Chr2:220147916 [GRCh37]
Chr2:2q35		 likely benign
GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3 copy number gain See cases [RCV004442836] Chr2:216815496..242782258 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_006736.6(DNAJB2):c.929G>A (p.Arg310His) single nucleotide variant DNAJB2-related disorder [RCV003909447] Chr2:219284941 [GRCh38]
Chr2:220149663 [GRCh37]
Chr2:2q35		 likely benign
NM_006736.6(DNAJB2):c.633C>T (p.Asp211=) single nucleotide variant DNAJB2-related disorder [RCV004730352] Chr2:219284645 [GRCh38]
Chr2:220149367 [GRCh37]
Chr2:2q35		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6297
Count of miRNA genes:1149
Interacting mature miRNAs:1505
Transcripts:ENST00000336576, ENST00000392086, ENST00000392087, ENST00000421532, ENST00000425450, ENST00000439026, ENST00000442681, ENST00000463463, ENST00000470530, ENST00000472019, ENST00000473750, ENST00000476254, ENST00000477917, ENST00000480537, ENST00000481815, ENST00000482988, ENST00000485220, ENST00000487855
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2293458PRSTS291_HProstate tumor susceptibility QTL 291 (human)0.012Prostate tumor susceptibility2200715236226715236Human
1643053BW117_HBody Weight QTL 117 (human)2.40.00044Body weight2200715236226715236Human
597355487GWAS1451561_Hself reported educational attainment QTL GWAS1451561 (human)0.000005self reported educational attainment2219281680219281681Human
2289332BW376_HBody weight QTL 376 (human)1.870.00168Body fat amountabdominal2213765566239765566Human
597373350GWAS1469424_Hbody mass index QTL GWAS1469424 (human)9e-09body mass indexbody mass index (BMI) (CMO:0000105)2219286259219286260Human
1643254BW125_HBody Weight QTL 125 (human)1.450.005Body weightbody mass index2200715236226715236Human

Markers in Region
G67373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,149,560 - 220,149,709UniSTSGRCh37
Build 362219,857,804 - 219,857,953RGDNCBI36
Celera2213,919,263 - 213,919,412RGD
Cytogenetic Map2q32-q34UniSTS
HuRef2212,002,646 - 212,002,795UniSTS
Cda0vf12  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,151,392 - 220,151,559UniSTSGRCh37
Build 362219,859,636 - 219,859,803RGDNCBI36
Celera2213,921,095 - 213,921,262RGD
Cytogenetic Map2q32-q34UniSTS
HuRef2212,004,478 - 212,004,645UniSTS
GeneMap99-GB4 RH Map2682.52UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1950 465 2270 7305 6471 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001039550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC114803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL547521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF795662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM689272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX420085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX478051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA392563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S37374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S37375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X63368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000336576   ⟹   ENSP00000338019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,279,366 - 219,286,895 (+)Ensembl
Ensembl Acc Id: ENST00000392086   ⟹   ENSP00000375936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,279,344 - 219,286,898 (+)Ensembl
Ensembl Acc Id: ENST00000392087   ⟹   ENSP00000375937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,279,465 - 219,284,838 (+)Ensembl
Ensembl Acc Id: ENST00000421532   ⟹   ENSP00000395173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,279,366 - 219,282,105 (+)Ensembl
Ensembl Acc Id: ENST00000425450   ⟹   ENSP00000414796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,279,342 - 219,284,696 (+)Ensembl
Ensembl Acc Id: ENST00000439026   ⟹   ENSP00000387951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,279,517 - 219,282,929 (+)Ensembl
Ensembl Acc Id: ENST00000442681   ⟹   ENSP00000392790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,279,516 - 219,282,852 (+)Ensembl
Ensembl Acc Id: ENST00000463463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,279,920 - 219,284,828 (+)Ensembl
Ensembl Acc Id: ENST00000470530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,285,263 - 219,286,200 (+)Ensembl
Ensembl Acc Id: ENST00000472019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,282,742 - 219,286,839 (+)Ensembl
Ensembl Acc Id: ENST00000473750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,282,698 - 219,285,196 (+)Ensembl
Ensembl Acc Id: ENST00000476254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,283,064 - 219,284,874 (+)Ensembl
Ensembl Acc Id: ENST00000477917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,279,367 - 219,286,895 (+)Ensembl
Ensembl Acc Id: ENST00000480537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,279,367 - 219,282,660 (+)Ensembl
Ensembl Acc Id: ENST00000481815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,279,588 - 219,280,693 (+)Ensembl
Ensembl Acc Id: ENST00000482988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,279,369 - 219,280,170 (+)Ensembl
Ensembl Acc Id: ENST00000485220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,279,906 - 219,281,373 (+)Ensembl
Ensembl Acc Id: ENST00000487855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,280,613 - 219,282,665 (+)Ensembl
Ensembl Acc Id: ENST00000683651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,280,840 - 219,282,705 (+)Ensembl
Ensembl Acc Id: ENST00000684599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,279,348 - 219,286,873 (+)Ensembl
RefSeq Acc Id: NM_001039550   ⟹   NP_001034639
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,279,366 - 219,286,895 (+)NCBI
GRCh372220,144,040 - 220,151,622 (+)ENTREZGENE
Build 362219,852,284 - 219,859,866 (+)NCBI Archive
HuRef2211,997,126 - 212,004,708 (+)ENTREZGENE
CHM1_12220,149,887 - 220,157,470 (+)NCBI
T2T-CHM13v2.02219,764,122 - 219,771,651 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006736   ⟹   NP_006727
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,279,366 - 219,286,895 (+)NCBI
GRCh372220,144,040 - 220,151,622 (+)ENTREZGENE
Build 362219,852,284 - 219,859,866 (+)NCBI Archive
HuRef2211,997,126 - 212,004,708 (+)ENTREZGENE
CHM1_12220,149,887 - 220,157,470 (+)NCBI
T2T-CHM13v2.02219,764,122 - 219,771,651 (+)NCBI
Sequence:
RefSeq Acc Id: NP_006727   ⟸   NM_006736
- Peptide Label: isoform b
- UniProtKB: P25686 (UniProtKB/Swiss-Prot),   Q8IUK2 (UniProtKB/Swiss-Prot),   Q8IUK1 (UniProtKB/Swiss-Prot),   Q53QD7 (UniProtKB/Swiss-Prot),   A8K9P6 (UniProtKB/Swiss-Prot),   Q96F52 (UniProtKB/Swiss-Prot),   A8K0R1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001034639   ⟸   NM_001039550
- Peptide Label: isoform a
- UniProtKB: C9JXB9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000414796   ⟸   ENST00000425450
Ensembl Acc Id: ENSP00000387951   ⟸   ENST00000439026
Ensembl Acc Id: ENSP00000338019   ⟸   ENST00000336576
Ensembl Acc Id: ENSP00000392790   ⟸   ENST00000442681
Ensembl Acc Id: ENSP00000375937   ⟸   ENST00000392087
Ensembl Acc Id: ENSP00000375936   ⟸   ENST00000392086
Ensembl Acc Id: ENSP00000395173   ⟸   ENST00000421532
Protein Domains
J   UIM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P25686-F1-model_v2 AlphaFold P25686 1-324 view protein structure

Promoters
RGD ID:6862906
Promoter ID:EPDNEW_H4618
Type:initiation region
Name:DNAJB2_1
Description:DnaJ heat shock protein family member B2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,279,366 - 219,279,426EPDNEW
RGD ID:6797242
Promoter ID:HG_KWN:37347
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:ENST00000392087,   NM_001039550,   OTTHUMT00000256823,   OTTHUMT00000335645,   OTTHUMT00000335647,   OTTHUMT00000335650,   OTTHUMT00000335652,   OTTHUMT00000335653,   OTTHUMT00000335654,   OTTHUMT00000335655,   OTTHUMT00000335656,   OTTHUMT00000335657,   OTTHUMT00000335661
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,852,146 - 219,852,827 (+)MPROMDB
RGD ID:6797084
Promoter ID:HG_KWN:37348
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000335658
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,853,561 - 219,854,061 (+)MPROMDB
RGD ID:6797083
Promoter ID:HG_KWN:37349
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000335648,   OTTHUMT00000335659,   UC002VKY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,854,679 - 219,855,179 (+)MPROMDB
RGD ID:6797087
Promoter ID:HG_KWN:37350
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000335660
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,857,771 - 219,858,512 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5228 AgrOrtholog
COSMIC DNAJB2 COSMIC
Ensembl Genes ENSG00000135924 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000336576 ENTREZGENE
  ENST00000336576.10 UniProtKB/Swiss-Prot
  ENST00000392086 ENTREZGENE
  ENST00000392086.8 UniProtKB/Swiss-Prot
  ENST00000392087.6 UniProtKB/TrEMBL
  ENST00000421532.5 UniProtKB/TrEMBL
  ENST00000425450.5 UniProtKB/TrEMBL
  ENST00000439026.1 UniProtKB/TrEMBL
  ENST00000442681.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.140.100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000135924 GTEx
HGNC ID HGNC:5228 ENTREZGENE
Human Proteome Map DNAJB2 Human Proteome Map
InterPro DnaJ_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DnaJ_domain_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNJB2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  J_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UIM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3300 UniProtKB/Swiss-Prot
NCBI Gene 3300 ENTREZGENE
OMIM 604139 OMIM
PANTHER DNAJ HOMOLOG SUBFAMILY B MEMBER 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR45168 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DnaJ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27415 PharmGKB
PRINTS JDOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE DNAJ_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNAJ_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DnaJ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46565 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K0R1 ENTREZGENE, UniProtKB/TrEMBL
  A8K9P6 ENTREZGENE
  C9J1G2_HUMAN UniProtKB/TrEMBL
  C9JRD2_HUMAN UniProtKB/TrEMBL
  C9JX00_HUMAN UniProtKB/TrEMBL
  C9JXB9 ENTREZGENE, UniProtKB/TrEMBL
  DNJB2_HUMAN UniProtKB/Swiss-Prot
  E7ETU0_HUMAN UniProtKB/TrEMBL
  P25686 ENTREZGENE
  Q53QD7 ENTREZGENE
  Q8IUK1 ENTREZGENE
  Q8IUK2 ENTREZGENE
  Q96F52 ENTREZGENE
UniProt Secondary A8K9P6 UniProtKB/Swiss-Prot
  Q53QD7 UniProtKB/Swiss-Prot
  Q8IUK1 UniProtKB/Swiss-Prot
  Q8IUK2 UniProtKB/Swiss-Prot
  Q96F52 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 DNAJB2  DnaJ heat shock protein family (Hsp40) member B2  DNAJB2  DnaJ (Hsp40) homolog, subfamily B, member 2  Symbol and/or name change 5135510 APPROVED