BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin) - Rat Genome Database
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Gene: BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin) Homo sapiens
Analyze
Symbol: BSCL2
Name: BSCL2 lipid droplet biogenesis associated, seipin
RGD ID: 1317732
HGNC Page HGNC
Description: Exhibits phospholipid binding activity. Involved in lipid droplet formation. Localizes to integral component of endoplasmic reticulum membrane and lipid droplet. Implicated in congenital generalized lipodystrophy type 2; hereditary spastic paraplegia; hereditary spastic paraplegia 17; and lipodystrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Berardinelli-Seip congenital lipodystrophy 2 (seipin); Bernardinelli-Seip congenital lipodystrophy 2 (seipin); bernardinelli-Seip congenital lipodystrophy type 2 protein; BSCL2, seipin lipid droplet biogenesis associated; FLJ16651; GNG3LG; HMN5; HMN5C; MGC4694; PELD; seipin; spastic paraplegia 17 (Silver syndrome); SPG17
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1162,690,275 - 62,709,845 (-)EnsemblGRCh38hg38GRCh38
GRCh381162,690,262 - 62,709,537 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371162,457,734 - 62,477,009 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361162,214,323 - 62,231,395 (-)NCBINCBI36hg18NCBI36
Build 341162,214,322 - 62,231,395NCBI
Celera1159,786,117 - 59,805,403 (-)NCBI
Cytogenetic Map11q12.3NCBI
HuRef1158,786,515 - 58,805,891 (-)NCBIHuRef
CHM1_11162,340,845 - 62,360,176 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal facial shape  (IAGP)
Abnormal motor nerve conduction velocity  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormality of the foot musculature  (IAGP)
Acanthosis nigricans  (IAGP)
Accelerated skeletal maturation  (IAGP)
Acute pancreatitis  (IAGP)
Adipose tissue loss  (IAGP)
Adult onset  (IAGP)
Amenorrhea  (IAGP)
Ankle weakness  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Bone cyst  (IAGP)
Brisk reflexes  (IAGP)
Caudate atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Chaddock reflex  (IAGP)
Cirrhosis  (IAGP)
Clitoral hypertrophy  (IAGP)
Coarse facial features  (IAGP)
Cold-induced hand cramps  (IAGP)
Congenital onset  (IAGP)
Congestive heart failure  (IAGP)
Cystic angiomatosis of bone  (IAGP)
Decreased fertility  (IAGP)
Decreased fertility in females  (IAGP)
Decreased serum leptin  (IAGP)
Delayed speech and language development  (IAGP)
Developmental regression  (IAGP)
Diabetes mellitus  (IAGP)
Difficulty walking  (IAGP)
Distal lower limb amyotrophy  (IAGP)
Distal lower limb muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Dystonia  (IAGP)
Elevated hepatic transaminase  (IAGP)
Encephalopathy  (IAGP)
Failure to thrive  (IAGP)
First dorsal interossei muscle atrophy  (IAGP)
First dorsal interossei muscle weakness  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Frequent falls  (IAGP)
Gait ataxia  (IAGP)
Generalized hirsutism  (IAGP)
Generalized lipodystrophy  (IAGP)
Generalized muscular appearance from birth  (IAGP)
Global developmental delay  (IAGP)
Hammertoe  (IAGP)
Hand muscle atrophy  (IAGP)
Hand muscle weakness  (IAGP)
Hepatic steatosis  (IAGP)
Hepatomegaly  (IAGP)
Heterogeneous  (IAGP)
High pitched voice  (IAGP)
Hip pain  (IAGP)
Hirsutism  (IAGP)
Hyperactivity  (IAGP)
Hypercholesterolemia  (IAGP)
Hyperinsulinemia  (IAGP)
Hyperreflexia  (IAGP)
Hypertension  (IAGP)
Hypertrichosis  (IAGP)
Hypertriglyceridemia  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Impaired vibration sensation in the lower limbs  (IAGP)
Impaired vibratory sensation  (IAGP)
Increased C-peptide level  (IAGP)
Insulin resistance  (IAGP)
Insulin-resistant diabetes mellitus at puberty  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Juvenile onset  (IAGP)
Knee pain  (IAGP)
Labial hypertrophy  (IAGP)
Large hands  (IAGP)
Limb dystonia  (IAGP)
Lipodystrophy  (IAGP)
Long foot  (IAGP)
Loss of speech  (IAGP)
Low anterior hairline  (IAGP)
Low posterior hairline  (IAGP)
Lower limb muscle weakness  (IAGP)
Lower limb spasticity  (IAGP)
Macroglossia  (IAGP)
Macrotia  (IAGP)
Mandibular prognathia  (IAGP)
Mental deterioration  (IAGP)
Motor polyneuropathy  (IAGP)
Myoclonus  (IAGP)
Myopathy  (IAGP)
Nephrolithiasis  (IAGP)
Neuronal loss in central nervous system  (IAGP)
Oligomenorrhea  (IAGP)
Overgrowth of external genitalia  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Pes valgus  (IAGP)
Polycystic ovaries  (IAGP)
Polyphagia  (IAGP)
Poor motor coordination  (IAGP)
Postural tremor  (IAGP)
Precocious puberty in females  (IAGP)
Progressive  (IAGP)
Progressive encephalopathy  (IAGP)
Progressive psychomotor deterioration  (IAGP)
Prominent superficial veins  (IAGP)
Prominent supraorbital ridges  (IAGP)
Prominent umbilicus  (IAGP)
Proportionate tall stature  (IAGP)
Psychomotor retardation  (IAGP)
Reduced intraabdominal adipose tissue  (IAGP)
Reduced intrathoracic adipose tissue  (IAGP)
Reduced subcutaneous adipose tissue  (IAGP)
Respiratory failure  (IAGP)
Seizure  (IAGP)
Sleep disturbance  (IAGP)
Slow progression  (IAGP)
Spastic gait  (IAGP)
Spastic paraplegia  (IAGP)
Spasticity  (IAGP)
Splenomegaly  (IAGP)
Split hand  (IAGP)
Status epilepticus  (IAGP)
Tall stature  (IAGP)
Tetraparesis  (IAGP)
Thenar muscle atrophy  (IAGP)
Thenar muscle weakness  (IAGP)
Tremor  (IAGP)
Triangular face  (IAGP)
Umbilical hernia  (IAGP)
Unsteady gait  (IAGP)
Upper limb muscle weakness  (IAGP)
Ventricular septal hypertrophy  (IAGP)
References

Additional References at PubMed
PMID:8125298   PMID:8619474   PMID:9110174   PMID:11389484   PMID:12477932   PMID:14602785   PMID:14702039   PMID:14981520   PMID:15126564   PMID:15181077   PMID:15342556   PMID:15489334  
PMID:15732094   PMID:16189514   PMID:16341674   PMID:16344560   PMID:16427281   PMID:16435205   PMID:16751776   PMID:17387721   PMID:17420921   PMID:17486577   PMID:17535271   PMID:17663003  
PMID:18093937   PMID:18155601   PMID:18224579   PMID:18250201   PMID:18458148   PMID:18585921   PMID:18612770   PMID:18690553   PMID:18698612   PMID:19226263   PMID:19252810   PMID:19278620  
PMID:19323790   PMID:19396477   PMID:19438831   PMID:19574402   PMID:19762912   PMID:20301391   PMID:20301484   PMID:20301682   PMID:20598714   PMID:20806400   PMID:21750110   PMID:21873635  
PMID:21957196   PMID:22157746   PMID:22234369   PMID:22427291   PMID:22474068   PMID:22810586   PMID:23088713   PMID:23142943   PMID:23470542   PMID:23553728   PMID:23564749   PMID:23659685  
PMID:23907395   PMID:23989774   PMID:24554482   PMID:24778225   PMID:24961962   PMID:25195639   PMID:25219579   PMID:25416956   PMID:25487175   PMID:25832430   PMID:26186194   PMID:26282322  
PMID:26815532   PMID:26871637   PMID:26975546   PMID:27025967   PMID:27107014   PMID:27391332   PMID:27564575   PMID:27612026   PMID:27634302   PMID:27748422   PMID:27806294   PMID:27838812  
PMID:27862672   PMID:27868354   PMID:27879284   PMID:28514442   PMID:28611215   PMID:28916377   PMID:29336362   PMID:29478747   PMID:29892012   PMID:30266686   PMID:30277474   PMID:30293840  
PMID:30447390   PMID:30575818   PMID:30871963   PMID:30901948   PMID:30903322   PMID:30940487   PMID:30970241   PMID:31178403   PMID:31391242   PMID:31708432   PMID:32094408   PMID:32236581  
PMID:32296183  


Genomics

Comparative Map Data
BSCL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1162,690,275 - 62,709,845 (-)EnsemblGRCh38hg38GRCh38
GRCh381162,690,262 - 62,709,537 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371162,457,734 - 62,477,009 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361162,214,323 - 62,231,395 (-)NCBINCBI36hg18NCBI36
Build 341162,214,322 - 62,231,395NCBI
Celera1159,786,117 - 59,805,403 (-)NCBI
Cytogenetic Map11q12.3NCBI
HuRef1158,786,515 - 58,805,891 (-)NCBIHuRef
CHM1_11162,340,845 - 62,360,176 (-)NCBICHM1_1
Bscl2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39198,814,831 - 8,826,047 (+)NCBIGRCm39mm39
GRCm39 Ensembl198,814,831 - 8,826,047 (+)Ensembl
GRCm38198,837,467 - 8,848,683 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl198,837,467 - 8,848,683 (+)EnsemblGRCm38mm10GRCm38
MGSCv37198,911,957 - 8,923,173 (+)NCBIGRCm37mm9NCBIm37
MGSCv36198,906,548 - 8,915,712 (+)NCBImm8
Celera198,597,278 - 8,608,494 (+)NCBICelera
Cytogenetic Map19ANCBI
cM Map195.76NCBI
Bscl2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21205,731,814 - 205,743,430 (+)NCBI
Rnor_6.0 Ensembl1225,037,737 - 225,046,040 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01225,035,956 - 225,046,137 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01231,972,073 - 231,983,764 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41211,509,675 - 211,518,963 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11211,668,104 - 211,677,392 (+)NCBI
Celera1203,246,734 - 203,256,205 (+)NCBICelera
Cytogenetic Map1q43NCBI
Bscl2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955599507,501 - 514,151 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955599505,725 - 514,225 (+)NCBIChiLan1.0ChiLan1.0
BSCL2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11161,399,314 - 61,416,494 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1161,399,314 - 61,416,494 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01158,046,842 - 58,064,219 (-)NCBIMhudiblu_PPA_v0panPan3
BSCL2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1853,958,475 - 53,971,119 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11853,958,380 - 53,971,120 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Bscl2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936581567,426 - 576,859 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BSCL2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl29,052,070 - 9,064,888 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.129,052,676 - 9,064,890 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.228,400,731 - 8,410,537 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BSCL2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1111,198,033 - 11,216,709 (+)NCBI
ChlSab1.1 Ensembl111,200,356 - 11,216,622 (+)Ensembl
Bscl2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249261,189,990 - 1,197,220 (-)NCBI

Position Markers
D11S987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371167,893,340 - 67,893,449UniSTSGRCh37
Celera1165,227,362 - 65,227,471UniSTS
HuRef1164,228,670 - 64,228,775UniSTS
Marshfield Genetic Map1167.48RGD
D11S1765  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371160,778,544 - 60,778,777UniSTSGRCh37
Build 361160,535,120 - 60,535,353RGDNCBI36
Celera1158,139,595 - 58,139,842RGD
Cytogenetic Map11q13UniSTS
Marshfield Genetic Map1161.78UniSTS
Marshfield Genetic Map1161.78RGD
Genethon Genetic Map1165.0UniSTS
TNG Radiation Hybrid Map1126764.0UniSTS
deCODE Assembly Map1165.93UniSTS
GeneMap99-GB4 RH Map11225.4UniSTS
Whitehead-RH Map11298.7UniSTS
Whitehead-YAC Contig Map11 UniSTS
D11S4063  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,457,824 - 62,457,932UniSTSGRCh37
Build 361162,214,400 - 62,214,508RGDNCBI36
Celera1159,786,194 - 59,786,302RGD
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13UniSTS
HuRef1158,786,605 - 58,786,713UniSTS
D11S4928  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,457,829 - 62,458,149UniSTSGRCh37
Build 361162,214,405 - 62,214,725RGDNCBI36
Celera1159,786,199 - 59,786,519RGD
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13UniSTS
HuRef1158,786,610 - 58,786,930UniSTS
TNG Radiation Hybrid Map1127109.0UniSTS
Stanford-G3 RH Map112707.0UniSTS
NCBI RH Map11560.2UniSTS
GeneMap99-G3 RH Map112707.0UniSTS
RH12537  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,476,500 - 62,476,651UniSTSGRCh37
Build 361162,233,076 - 62,233,227RGDNCBI36
Celera1159,804,857 - 59,805,008RGD
Cytogenetic Map11q13UniSTS
Cytogenetic Map11p11UniSTS
HuRef1158,805,300 - 58,805,451UniSTS
GeneMap99-GB4 RH Map11230.64UniSTS
NCBI RH Map11563.0UniSTS
RH12527  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,457,799 - 62,457,939UniSTSGRCh37
Build 361162,214,375 - 62,214,515RGDNCBI36
Celera1159,786,169 - 59,786,309RGD
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13UniSTS
HuRef1158,786,580 - 58,786,720UniSTS
GeneMap99-GB4 RH Map11230.64UniSTS
NCBI RH Map11563.0UniSTS
D11S1084  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,478,271 - 62,478,422UniSTSGRCh37
Build 361162,234,847 - 62,234,998RGDNCBI36
Celera1159,806,628 - 59,806,779RGD
Cytogenetic Map11q13UniSTS
HuRef1158,807,071 - 58,807,222UniSTS
Gng3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,475,783 - 62,476,275UniSTSGRCh37
Celera1159,804,140 - 59,804,632UniSTS
HuRef1158,804,583 - 58,805,075UniSTS
D11S987  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map11p13UniSTS
Marshfield Genetic Map1167.48UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7911
Count of miRNA genes:1128
Interacting mature miRNAs:1457
Transcripts:ENST00000278893, ENST00000301781, ENST00000360796, ENST00000403098, ENST00000403550, ENST00000405837, ENST00000407022, ENST00000412351, ENST00000413908, ENST00000421906, ENST00000433053, ENST00000448568, ENST00000449636, ENST00000463679, ENST00000464544, ENST00000468505, ENST00000470529, ENST00000524862, ENST00000525000, ENST00000526426, ENST00000528874, ENST00000530009, ENST00000530900, ENST00000531524, ENST00000532115, ENST00000532818, ENST00000533982, ENST00000537604
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 2239 2342 1419 378 1007 217 3947 1705 3577 135 1227 1341 166 1203 2654
Low 194 634 301 239 941 242 408 488 155 283 222 267 6 1 1 134 4
Below cutoff 3 9 5 5 5 2 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001122955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF052149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG699373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM763152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP370169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD107822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ783924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS072299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB178846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB296305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ575792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ584208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU500836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000278893   ⟹   ENSP00000278893
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,690,276 - 62,706,315 (-)Ensembl
RefSeq Acc Id: ENST00000301781   ⟹   ENSP00000301781
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,690,312 - 62,707,518 (-)Ensembl
RefSeq Acc Id: ENST00000360796   ⟹   ENSP00000354032
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,690,276 - 62,707,398 (-)Ensembl
RefSeq Acc Id: ENST00000403098   ⟹   ENSP00000384258
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,690,281 - 62,692,749 (-)Ensembl
RefSeq Acc Id: ENST00000403550   ⟹   ENSP00000385561
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,690,295 - 62,706,234 (-)Ensembl
RefSeq Acc Id: ENST00000405837   ⟹   ENSP00000385332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,690,275 - 62,709,514 (-)Ensembl
RefSeq Acc Id: ENST00000407022   ⟹   ENSP00000384080
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,690,295 - 62,706,344 (-)Ensembl
RefSeq Acc Id: ENST00000412351
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,691,392 - 62,697,566 (-)Ensembl
RefSeq Acc Id: ENST00000413908   ⟹   ENSP00000393728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,705,494 - 62,707,463 (-)Ensembl
RefSeq Acc Id: ENST00000421906   ⟹   ENSP00000413209
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,690,315 - 62,706,344 (-)Ensembl
RefSeq Acc Id: ENST00000448568   ⟹   ENSP00000413340
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,692,376 - 62,706,218 (-)Ensembl
RefSeq Acc Id: ENST00000449636   ⟹   ENSP00000405265
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,690,275 - 62,691,339 (-)Ensembl
RefSeq Acc Id: ENST00000463679
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,690,278 - 62,691,342 (-)Ensembl
RefSeq Acc Id: ENST00000464544   ⟹   ENSP00000431782
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,705,426 - 62,709,845 (-)Ensembl
RefSeq Acc Id: ENST00000468505
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,690,970 - 62,692,797 (-)Ensembl
RefSeq Acc Id: ENST00000470529
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,690,276 - 62,691,178 (-)Ensembl
RefSeq Acc Id: ENST00000524862   ⟹   ENSP00000433888
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,692,749 - 62,709,320 (-)Ensembl
RefSeq Acc Id: ENST00000525000   ⟹   ENSP00000437044
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,694,676 - 62,707,144 (-)Ensembl
RefSeq Acc Id: ENST00000526426
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,692,410 - 62,694,712 (-)Ensembl
RefSeq Acc Id: ENST00000528874   ⟹   ENSP00000436991
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,707,126 - 62,709,064 (-)Ensembl
RefSeq Acc Id: ENST00000530009   ⟹   ENSP00000435500
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,707,111 - 62,709,845 (-)Ensembl
RefSeq Acc Id: ENST00000530900
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,694,600 - 62,706,256 (-)Ensembl
RefSeq Acc Id: ENST00000531524   ⟹   ENSP00000436026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,692,696 - 62,709,528 (-)Ensembl
RefSeq Acc Id: ENST00000532115
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,691,336 - 62,694,711 (-)Ensembl
RefSeq Acc Id: ENST00000532818   ⟹   ENSP00000435831
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,705,336 - 62,709,731 (-)Ensembl
RefSeq Acc Id: ENST00000533982   ⟹   ENSP00000434149
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,694,708 - 62,707,349 (-)Ensembl
RefSeq Acc Id: ENST00000537604
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,694,558 - 62,706,220 (-)Ensembl
RefSeq Acc Id: ENST00000679883   ⟹   ENSP00000505838
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,690,275 - 62,709,537 (-)Ensembl
RefSeq Acc Id: NM_001122955   ⟹   NP_001116427
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,690,275 - 62,707,424 (-)NCBI
GRCh371162,457,734 - 62,477,091 (-)ENTREZGENE
HuRef1158,786,515 - 58,805,891 (-)ENTREZGENE
CHM1_11162,340,845 - 62,358,264 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001130702   ⟹   NP_001124174
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,690,262 - 62,706,315 (-)NCBI
GRCh371162,457,734 - 62,477,091 (-)ENTREZGENE
HuRef1158,786,515 - 58,805,891 (-)ENTREZGENE
CHM1_11162,340,845 - 62,356,875 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001386027   ⟹   NP_001372956
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,690,275 - 62,709,537 (-)NCBI
RefSeq Acc Id: NM_001386028   ⟹   NP_001372957
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,690,275 - 62,709,537 (-)NCBI
RefSeq Acc Id: NM_032667   ⟹   NP_116056
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,690,262 - 62,706,315 (-)NCBI
GRCh371162,457,734 - 62,477,091 (-)ENTREZGENE
Build 361162,214,323 - 62,231,395 (-)NCBI Archive
HuRef1158,786,515 - 58,805,891 (-)ENTREZGENE
CHM1_11162,340,845 - 62,356,875 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001116427 (Get FASTA)   NCBI Sequence Viewer  
  NP_001124174 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372956 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372957 (Get FASTA)   NCBI Sequence Viewer  
  NP_116056 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH04911 (Get FASTA)   NCBI Sequence Viewer  
  AAH12140 (Get FASTA)   NCBI Sequence Viewer  
  AAH41640 (Get FASTA)   NCBI Sequence Viewer  
  AAH93048 (Get FASTA)   NCBI Sequence Viewer  
  ACA50720 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34053 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34054 (Get FASTA)   NCBI Sequence Viewer  
  BAB55175 (Get FASTA)   NCBI Sequence Viewer  
  BAC11543 (Get FASTA)   NCBI Sequence Viewer  
  BAD97326 (Get FASTA)   NCBI Sequence Viewer  
  CAF86927 (Get FASTA)   NCBI Sequence Viewer  
  CAI93437 (Get FASTA)   NCBI Sequence Viewer  
  EAW74070 (Get FASTA)   NCBI Sequence Viewer  
  EAW74071 (Get FASTA)   NCBI Sequence Viewer  
  EAW74072 (Get FASTA)   NCBI Sequence Viewer  
  EAW74073 (Get FASTA)   NCBI Sequence Viewer  
  EAW74074 (Get FASTA)   NCBI Sequence Viewer  
  EAW74075 (Get FASTA)   NCBI Sequence Viewer  
  EAW74076 (Get FASTA)   NCBI Sequence Viewer  
  EAW74077 (Get FASTA)   NCBI Sequence Viewer  
  EAW74078 (Get FASTA)   NCBI Sequence Viewer  
  EAW74080 (Get FASTA)   NCBI Sequence Viewer  
  EAW74081 (Get FASTA)   NCBI Sequence Viewer  
  Q96G97 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001116427   ⟸   NM_001122955
- Peptide Label: isoform 1
- UniProtKB: Q96G97 (UniProtKB/Swiss-Prot),   A0A024R540 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001124174   ⟸   NM_001130702
- Peptide Label: isoform 3
- UniProtKB: Q96G97 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_116056   ⟸   NM_032667
- Peptide Label: isoform 2
- UniProtKB: Q96G97 (UniProtKB/Swiss-Prot),   A0A024R549 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000431782   ⟸   ENST00000464544
RefSeq Acc Id: ENSP00000435500   ⟸   ENST00000530009
RefSeq Acc Id: ENSP00000393728   ⟸   ENST00000413908
RefSeq Acc Id: ENSP00000436026   ⟸   ENST00000531524
RefSeq Acc Id: ENSP00000354032   ⟸   ENST00000360796
RefSeq Acc Id: ENSP00000435831   ⟸   ENST00000532818
RefSeq Acc Id: ENSP00000434149   ⟸   ENST00000533982
RefSeq Acc Id: ENSP00000385561   ⟸   ENST00000403550
RefSeq Acc Id: ENSP00000384258   ⟸   ENST00000403098
RefSeq Acc Id: ENSP00000385332   ⟸   ENST00000405837
RefSeq Acc Id: ENSP00000433888   ⟸   ENST00000524862
RefSeq Acc Id: ENSP00000384080   ⟸   ENST00000407022
RefSeq Acc Id: ENSP00000437044   ⟸   ENST00000525000
RefSeq Acc Id: ENSP00000301781   ⟸   ENST00000301781
RefSeq Acc Id: ENSP00000413340   ⟸   ENST00000448568
RefSeq Acc Id: ENSP00000278893   ⟸   ENST00000278893
RefSeq Acc Id: ENSP00000413209   ⟸   ENST00000421906
RefSeq Acc Id: ENSP00000436991   ⟸   ENST00000528874
RefSeq Acc Id: ENSP00000405265   ⟸   ENST00000449636
RefSeq Acc Id: NP_001372957   ⟸   NM_001386028
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001372956   ⟸   NM_001386027
- Peptide Label: isoform 4
RefSeq Acc Id: ENSP00000505838   ⟸   ENST00000679883

Promoters
RGD ID:6788527
Promoter ID:HG_KWN:13125
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000319195
Position:
Human AssemblyChrPosition (strand)Source
Build 361162,230,151 - 62,230,651 (-)MPROMDB
RGD ID:6788802
Promoter ID:HG_KWN:13126
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000403098,   ENST00000403734,   OTTHUMT00000319184,   OTTHUMT00000319187,   UC001NUO.1,   UC001NUQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361162,230,161 - 62,230,661 (-)MPROMDB
RGD ID:6788528
Promoter ID:HG_KWN:13127
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001122955,   OTTHUMT00000319181,   OTTHUMT00000319189,   UC001NUS.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361162,231,676 - 62,232,772 (-)MPROMDB
RGD ID:6788529
Promoter ID:HG_KWN:13129
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001130702,   OTTHUMT00000319188,   UC001NUT.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361162,233,556 - 62,234,377 (-)MPROMDB
RGD ID:7220687
Promoter ID:EPDNEW_H16090
Type:initiation region
Name:BSCL2_4
Description:BSCL2, seipin lipid droplet biogenesis associated
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16091  EPDNEW_H16093  EPDNEW_H16096  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,691,073 - 62,691,133EPDNEW
RGD ID:7220691
Promoter ID:EPDNEW_H16091
Type:initiation region
Name:BSCL2_1
Description:BSCL2, seipin lipid droplet biogenesis associated
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16090  EPDNEW_H16093  EPDNEW_H16096  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,706,315 - 62,706,375EPDNEW
RGD ID:7220695
Promoter ID:EPDNEW_H16093
Type:initiation region
Name:BSCL2_3
Description:BSCL2, seipin lipid droplet biogenesis associated
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16090  EPDNEW_H16091  EPDNEW_H16096  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,707,424 - 62,707,484EPDNEW
RGD ID:7220699
Promoter ID:EPDNEW_H16096
Type:initiation region
Name:BSCL2_2
Description:BSCL2, seipin lipid droplet biogenesis associated
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16090  EPDNEW_H16091  EPDNEW_H16093  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,709,536 - 62,709,596EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_032667.6(BSCL2):c.265G>A (p.Val89Ile) single nucleotide variant not provided [RCV000521639] Chr11:62702497 [GRCh38]
Chr11:62469969 [GRCh37]
Chr11:11q12.3		 likely pathogenic
NM_032667.6(BSCL2):c.439G>A (p.Val147Met) single nucleotide variant not specified [RCV000517737] Chr11:62692797 [GRCh38]
Chr11:62460269 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.617G>T (p.Arg206Leu) single nucleotide variant Hereditary spastic paraplegia [RCV000516060] Chr11:62692430 [GRCh38]
Chr11:62459902 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.703G>A (p.Ala235Thr) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000526218]|Hereditary spastic paraplegia [RCV000515840] Chr11:62691390 [GRCh38]
Chr11:62458862 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.693G>A (p.Pro231=) single nucleotide variant not provided [RCV000516898] Chr11:62691400 [GRCh38]
Chr11:62458872 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.192_193delinsGGA (p.Ser64fs) indel Congenital generalized lipodystrophy type 2 [RCV000004789] Chr11:62705320..62705321 [GRCh38]
Chr11:62472792..62472793 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.301_302insAA (p.Met101fs) insertion Congenital generalized lipodystrophy type 2 [RCV000004790] Chr11:62694704..62694705 [GRCh38]
Chr11:62462176..62462177 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.315_316del (p.Tyr106fs) deletion Congenital generalized lipodystrophy type 2 [RCV000004791] Chr11:62694690..62694691 [GRCh38]
Chr11:62462162..62462163 [GRCh37]
Chr11:11q12.3		 pathogenic
BSCL2, 258-BP DEL/12-BP INS indel Congenital generalized lipodystrophy type 2 [RCV000004792] Chr11:11q13 pathogenic
NM_032667.6(BSCL2):c.317_321del (p.Tyr106fs) deletion Congenital generalized lipodystrophy type 2 [RCV000004793]|Encephalopathy, progressive, with or without lipodystrophy [RCV000133399]|not provided [RCV001091624] Chr11:62694685..62694689 [GRCh38]
Chr11:62462157..62462161 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.325dup (p.Thr109fs) duplication Congenital generalized lipodystrophy type 2 [RCV000004794] Chr11:62694680..62694681 [GRCh38]
Chr11:62462152..62462153 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_001122955.4(BSCL2):c.630+1G>A single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000004796] Chr11:62694567 [GRCh38]
Chr11:62462039 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.636del (p.Tyr213fs) deletion Congenital generalized lipodystrophy type 2 [RCV000004798] Chr11:62692411 [GRCh38]
Chr11:62459883 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.671+5G>A single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000004799] Chr11:62692371 [GRCh38]
Chr11:62459843 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.672-3C>G single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000004800] Chr11:62691424 [GRCh38]
Chr11:62458896 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.232A>G (p.Thr78Ala) single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000778331]|Distal hereditary motor neuronopathy type 5 [RCV001107687] Chr11:62702530 [GRCh38]
Chr11:62470002 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.692C>T (p.Pro231Leu) single nucleotide variant not provided [RCV000722475] Chr11:62691401 [GRCh38]
Chr11:62458873 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.253C>G (p.Pro85Ala) single nucleotide variant not provided [RCV000520209] Chr11:62702509 [GRCh38]
Chr11:62469981 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.1001C>G (p.Pro334Arg) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001235356]|not provided [RCV000519487] Chr11:62690653 [GRCh38]
Chr11:62458125 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.412C>T (p.Arg138Ter) single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000004795] Chr11:62694594 [GRCh38]
Chr11:62462066 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.634G>C (p.Ala212Pro) single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000004797] Chr11:62692413 [GRCh38]
Chr11:62459885 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.263A>G (p.Asn88Ser) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000168078]|Distal hereditary motor neuronopathy type 5 [RCV000004802]|NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC [RCV001270680]|Spastic paraplegia 17 [RCV000004801]|not provided [RCV000340485]|not specified [RCV000507071] Chr11:62702499 [GRCh38]
Chr11:62469971 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.269C>T (p.Ser90Leu) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000547334]|Distal hereditary motor neuronopathy type 5 [RCV000755016]|NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC [RCV001270681]|Spastic paraplegia 17 [RCV000004803]|not provided [RCV000235980] Chr11:62702493 [GRCh38]
Chr11:62469965 [GRCh37]
Chr11:11q12.3		 pathogenic|likely pathogenic
NM_032667.6(BSCL2):c.823C>T (p.Arg275Ter) single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000004804] Chr11:62691132 [GRCh38]
Chr11:62458604 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.565G>T (p.Glu189Ter) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000196081]|Congenital generalized lipodystrophy type 2 [RCV000004805] Chr11:62692671 [GRCh38]
Chr11:62460143 [GRCh37]
Chr11:11q12.3		 pathogenic
GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3 copy number gain See cases [RCV000053620] Chr11:62433886..63096003 [GRCh38]
Chr11:62201358..62863475 [GRCh37]
Chr11:61957934..62620051 [NCBI36]
Chr11:11q12.3		 pathogenic
GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3 copy number gain See cases [RCV000053621] Chr11:62452571..62862781 [GRCh38]
Chr11:62220043..62630253 [GRCh37]
Chr11:61976619..62386829 [NCBI36]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.249C>T (p.Ser83=) single nucleotide variant not provided [RCV000875230] Chr11:62702513 [GRCh38]
Chr11:62469985 [GRCh37]
Chr11:62226561 [NCBI36]
Chr11:11q12.3		 likely benign|not provided
NM_032667.6(BSCL2):c.1088T>C (p.Leu363Pro) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001082147]|Congenital generalized lipodystrophy type 2 [RCV000300263]|Distal hereditary motor neuronopathy type 5 [RCV000357438]|Monogenic diabetes [RCV000664139]|not provided [RCV000116504]|not specified [RCV000174173] Chr11:62690476 [GRCh38]
Chr11:62457948 [GRCh37]
Chr11:11q12.3		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032667.6(BSCL2):c.945A>G (p.Glu315=) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000860294]|Congenital generalized lipodystrophy type 2 [RCV000377345]|Distal hereditary motor neuronopathy type 5 [RCV000320427]|not specified [RCV000116505] Chr11:62690803 [GRCh38]
Chr11:62458275 [GRCh37]
Chr11:11q12.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_032667.6(BSCL2):c.346G>T (p.Glu116Ter) single nucleotide variant Encephalopathy, progressive, with or without lipodystrophy [RCV000133398] Chr11:62694660 [GRCh38]
Chr11:62462132 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.793C>T (p.Arg265Ter) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000800475]|Congenital generalized lipodystrophy type 2 [RCV000412493]|Encephalopathy, progressive, with or without lipodystrophy [RCV000133397] Chr11:62691300 [GRCh38]
Chr11:62458772 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_001122955.3(BSCL2):c.509_513delATCGT (p.Tyr170Cysfs) deletion ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY [RCV000133399]|Encephalopathy, progressive, with or without lipodystrophy [RCV000133399] Chr11:62694685..62694689 [GRCh38]
Chr11:62462157..62462161 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.975C>T (p.Ser325=) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001078698]|Congenital generalized lipodystrophy type 2 [RCV000359811]|Distal hereditary motor neuronopathy type 5 [RCV000267577]|not provided [RCV000143800] Chr11:62690679 [GRCh38]
Chr11:62458151 [GRCh37]
Chr11:11q12.3		 benign|likely benign
NM_032667.6(BSCL2):c.1175G>A (p.Arg392His) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001086117]|Monogenic diabetes [RCV000445495]|not provided [RCV000724332] Chr11:62690389 [GRCh38]
Chr11:62457861 [GRCh37]
Chr11:11q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3 copy number gain See cases [RCV000134807] Chr11:62562836..62840570 [GRCh38]
Chr11:62330308..62608042 [GRCh37]
Chr11:62086884..62364618 [NCBI36]
Chr11:11q12.3		 uncertain significance
GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3 copy number gain See cases [RCV000138411] Chr11:62249520..62946093 [GRCh38]
Chr11:62016992..62713565 [GRCh37]
Chr11:61773568..62470141 [NCBI36]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.690C>G (p.Phe230Leu) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000168103] Chr11:62691403 [GRCh38]
Chr11:62458875 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.295-9C>T single nucleotide variant not provided [RCV000178377] Chr11:62694720 [GRCh38]
Chr11:62462192 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.813+4G>T single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000538782]|not specified [RCV000194188] Chr11:62691276 [GRCh38]
Chr11:62458748 [GRCh37]
Chr11:11q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032667.6(BSCL2):c.813+4G>A single nucleotide variant not provided [RCV000179988] Chr11:62691276 [GRCh38]
Chr11:62458748 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.908C>T (p.Pro303Leu) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001087807]|Congenital generalized lipodystrophy (disease) [RCV000328674]|Neurologic Disorders/Seipinopathy [RCV000271246]|not provided [RCV000657059]|not specified [RCV001001623] Chr11:62690840 [GRCh38]
Chr11:62458312 [GRCh37]
Chr11:11q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032667.6(BSCL2):c.839C>T (p.Ser280Phe) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001083233]|Focal seizures with impairment of consciousness or awareness [RCV001254955]|Monogenic diabetes [RCV001174400]|not provided [RCV000766869]|not specified [RCV000192598] Chr11:62691116 [GRCh38]
Chr11:62458588 [GRCh37]
Chr11:11q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032667.6(BSCL2):c.449A>G (p.His150Arg) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000205008] Chr11:62692787 [GRCh38]
Chr11:62460259 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.813+8G>T single nucleotide variant not provided [RCV000205010] Chr11:62691272 [GRCh38]
Chr11:62458744 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.396C>T (p.Cys132=) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001087921]|Congenital generalized lipodystrophy type 2 [RCV000329673]|Distal hereditary motor neuronopathy type 5 [RCV000276983]|not provided [RCV000727441]|not specified [RCV000427504] Chr11:62694610 [GRCh38]
Chr11:62462082 [GRCh37]
Chr11:11q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032667.6(BSCL2):c.857G>A (p.Arg286Gln) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000205813] Chr11:62691098 [GRCh38]
Chr11:62458570 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.55G>A (p.Val19Ile) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000524860] Chr11:62705458 [GRCh38]
Chr11:62472930 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.563_564GA[2] (p.Asn190fs) microsatellite Congenital generalized lipodystrophy type 2 [RCV000754917] Chr11:62692668..62692669 [GRCh38]
Chr11:62460140..62460141 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.742G>A (p.Val248Ile) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001071687]|not provided [RCV000755880] Chr11:62691351 [GRCh38]
Chr11:62458823 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.1133C>T (p.Thr378Ile) single nucleotide variant not provided [RCV000219997] Chr11:62690431 [GRCh38]
Chr11:62457903 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.1117G>C (p.Ala373Pro) single nucleotide variant not provided [RCV000216520] Chr11:62690447 [GRCh38]
Chr11:62457919 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.842G>A (p.Arg281Gln) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000232016] Chr11:62691113 [GRCh38]
Chr11:62458585 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.313C>T (p.Pro105Ser) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000228112] Chr11:62694693 [GRCh38]
Chr11:62462165 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.1096C>T (p.Pro366Ser) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000234334] Chr11:62690468 [GRCh38]
Chr11:62457940 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.976G>A (p.Glu326Lys) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001055347]|not provided [RCV000766613]|not specified [RCV000235323] Chr11:62690678 [GRCh38]
Chr11:62458150 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.107G>T (p.Cys36Phe) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000543721]|not provided [RCV000235352] Chr11:62705406 [GRCh38]
Chr11:62472878 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.295-14G>A single nucleotide variant not provided [RCV000235758] Chr11:62694725 [GRCh38]
Chr11:62462197 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.228C>T (p.Ser76=) single nucleotide variant not provided [RCV000235755] Chr11:62702534 [GRCh38]
Chr11:62470006 [GRCh37]
Chr11:11q12.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_032667.6(BSCL2):c.1009G>A (p.Gly337Arg) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001229525]|Congenital generalized lipodystrophy type 2 [RCV001106917]|Distal hereditary motor neuronopathy type 5 [RCV001106918]|not provided [RCV000236066] Chr11:62690645 [GRCh38]
Chr11:62458117 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.217G>A (p.Asp73Asn) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000706077]|not provided [RCV000727086] Chr11:62702545 [GRCh38]
Chr11:62470017 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.256G>A (p.Val86Ile) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001080694]|Congenital generalized lipodystrophy type 2 [RCV000342082]|Distal hereditary motor neuronopathy type 5 [RCV000280085]|not provided [RCV000236421] Chr11:62702506 [GRCh38]
Chr11:62469978 [GRCh37]
Chr11:11q12.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032667.6(BSCL2):c.80T>C (p.Leu27Pro) single nucleotide variant not provided [RCV000236351] Chr11:62705433 [GRCh38]
Chr11:62472905 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.814-2A>G single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000761469]|not provided [RCV000236814] Chr11:62691143 [GRCh38]
Chr11:62458615 [GRCh37]
Chr11:11q12.3		 pathogenic|likely pathogenic
NM_032667.6(BSCL2):c.553G>A (p.Ala185Thr) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001086940]|Congenital generalized lipodystrophy type 2 [RCV000269156]|Distal hereditary motor neuronopathy type 5 [RCV000366070]|not provided [RCV000236915] Chr11:62692683 [GRCh38]
Chr11:62460155 [GRCh37]
Chr11:11q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032667.6(BSCL2):c.294+11G>T single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000371688]|Distal hereditary motor neuronopathy type 5 [RCV000338014]|not specified [RCV000245987] Chr11:62702457 [GRCh38]
Chr11:62469929 [GRCh37]
Chr11:11q12.3		 benign
NM_001122955.3(BSCL2):c.60C>G (p.Asp20Glu) single nucleotide variant Monogenic diabetes [RCV000445370]|not specified [RCV000250923] Chr11:62707136 [GRCh38]
Chr11:62474608 [GRCh37]
Chr11:11q12.3		 benign
NM_032667.6(BSCL2):c.573+15C>T single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000305595]|Distal hereditary motor neuronopathy type 5 [RCV000358073]|not specified [RCV000242906] Chr11:62692648 [GRCh38]
Chr11:62460120 [GRCh37]
Chr11:11q12.3		 benign
NM_032667.6(BSCL2):c.574-49T>C single nucleotide variant not provided [RCV000829655]|not specified [RCV000247876] Chr11:62692522 [GRCh38]
Chr11:62459994 [GRCh37]
Chr11:11q12.3		 benign
NM_032667.6(BSCL2):c.814-50T>G single nucleotide variant not specified [RCV000250535] Chr11:62691191 [GRCh38]
Chr11:62458663 [GRCh37]
Chr11:11q12.3		 benign
NM_032667.6(BSCL2):c.553G>T (p.Ala185Ser) single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000265700]|Distal hereditary motor neuronopathy type 5 [RCV000309083] Chr11:62692683 [GRCh38]
Chr11:62460155 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.-9C>T single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000302313]|Distal hereditary motor neuronopathy type 5 [RCV000398286] Chr11:62705521 [GRCh38]
Chr11:62472993 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.-182C>A single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000286276]|Distal hereditary motor neuronopathy type 5 [RCV000378430] Chr11:62706279 [GRCh38]
Chr11:62473751 [GRCh37]
Chr11:11q12.3		 benign|likely benign
NM_032667.6(BSCL2):c.423C>T (p.Ser141=) single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000326138]|Distal hereditary motor neuronopathy type 5 [RCV000387742]|not provided [RCV000827121] Chr11:62694583 [GRCh38]
Chr11:62462055 [GRCh37]
Chr11:11q12.3		 likely benign|uncertain significance
NM_032667.6(BSCL2):c.-194G>T single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000347286]|Distal hereditary motor neuronopathy type 5 [RCV000289942] Chr11:62706291 [GRCh38]
Chr11:62473763 [GRCh37]
Chr11:11q12.3		 likely benign|uncertain significance
NM_032667.6(BSCL2):c.747C>T (p.Ile249=) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001089354]|Congenital generalized lipodystrophy type 2 [RCV000351350]|Distal hereditary motor neuronopathy type 5 [RCV000389555]|not provided [RCV000865057]|not specified [RCV000614057] Chr11:62691346 [GRCh38]
Chr11:62458818 [GRCh37]
Chr11:11q12.3		 benign|likely benign
NM_032667.6(BSCL2):c.862A>G (p.Ile288Val) single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000381003]|Distal hereditary motor neuronopathy type 5 [RCV000289418] Chr11:62691093 [GRCh38]
Chr11:62458565 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.1042+14T>G single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000259295]|Distal hereditary motor neuronopathy type 5 [RCV000298141] Chr11:62690598 [GRCh38]
Chr11:62458070 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.669C>T (p.Leu223=) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000560796]|Congenital generalized lipodystrophy type 2 [RCV000350116]|Distal hereditary motor neuronopathy type 5 [RCV000292822]|not specified [RCV000422175] Chr11:62692378 [GRCh38]
Chr11:62459850 [GRCh37]
Chr11:11q12.3		 benign|likely benign|uncertain significance
NM_032667.6(BSCL2):c.-133G>A single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000371339]|Distal hereditary motor neuronopathy type 5 [RCV000274228] Chr11:62706230 [GRCh38]
Chr11:62473702 [GRCh37]
Chr11:11q12.3		 benign|likely benign
NM_032667.6(BSCL2):c.-69C>T single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000393471]|Distal hereditary motor neuronopathy type 5 [RCV000314309]|not provided [RCV000710229]|not specified [RCV000517690] Chr11:62705581 [GRCh38]
Chr11:62473053 [GRCh37]
Chr11:11q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032667.6(BSCL2):c.-154G>C single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000263780]|Distal hereditary motor neuronopathy type 5 [RCV000316667] Chr11:62706251 [GRCh38]
Chr11:62473723 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.653C>T (p.Ala218Val) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001083807]|Congenital generalized lipodystrophy type 2 [RCV000401336]|Distal hereditary motor neuronopathy type 5 [RCV000301053]|Monogenic diabetes [RCV001174402]|none provided [RCV001287481]|not provided [RCV000431177]|not specified [RCV000518650] Chr11:62692394 [GRCh38]
Chr11:62459866 [GRCh37]
Chr11:11q12.3		 benign|likely benign|uncertain significance
NM_032667.6(BSCL2):c.-183G>A single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000320380]|Distal hereditary motor neuronopathy type 5 [RCV000377296] Chr11:62706280 [GRCh38]
Chr11:62473752 [GRCh37]
Chr11:11q12.3		 benign|likely benign
NM_032667.6(BSCL2):c.352C>A (p.Pro118Thr) single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000386644]|Distal hereditary motor neuronopathy type 5 [RCV000280589] Chr11:62694654 [GRCh38]
Chr11:62462126 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.*49T>G single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000407298]|Distal hereditary motor neuronopathy type 5 [RCV000367640] Chr11:62690318 [GRCh38]
Chr11:62457790 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.776G>T (p.Trp259Leu) single nucleotide variant not provided [RCV000316610] Chr11:62691317 [GRCh38]
Chr11:62458789 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.-62G>A single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000310424]|Distal hereditary motor neuronopathy type 5 [RCV000362779] Chr11:62705574 [GRCh38]
Chr11:62473046 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.631G>A (p.Gly211Arg) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001089069]|Congenital generalized lipodystrophy type 2 [RCV000335926]|Distal hereditary motor neuronopathy type 5 [RCV000399378]|not provided [RCV000866662] Chr11:62692416 [GRCh38]
Chr11:62459888 [GRCh37]
Chr11:11q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032667.6(BSCL2):c.-60G>A single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000402160]|Distal hereditary motor neuronopathy type 5 [RCV000340748]|not provided [RCV000713442] Chr11:62705572 [GRCh38]
Chr11:62473044 [GRCh37]
Chr11:11q12.3		 benign|likely benign
NM_032667.6(BSCL2):c.1125C>A (p.Val375=) single nucleotide variant Familial partial lipodystrophy 3 [RCV000408866] Chr11:62690439 [GRCh38]
Chr11:62457911 [GRCh37]
Chr11:11q12.3		 likely pathogenic
NM_012202.5(GNG3):c.91C>T (p.Arg31Trp) single nucleotide variant not provided [RCV000487748] Chr11:62708386 [GRCh38]
Chr11:62475858 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.413G>A (p.Arg138Gln) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000548732]|not provided [RCV000488320] Chr11:62694593 [GRCh38]
Chr11:62462065 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.-140A>C single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000356267]|Distal hereditary motor neuronopathy type 5 [RCV000331883] Chr11:62706237 [GRCh38]
Chr11:62473709 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.1042+7G>A single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV001105808]|Distal hereditary motor neuronopathy type 5 [RCV001105807]|not specified [RCV000604138] Chr11:62690605 [GRCh38]
Chr11:62458077 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.438+11G>T single nucleotide variant not specified [RCV000600599] Chr11:62694557 [GRCh38]
Chr11:62462029 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.1001C>T (p.Pro334Leu) single nucleotide variant Inborn genetic diseases [RCV000624133] Chr11:62690653 [GRCh38]
Chr11:62458125 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.286C>T (p.Arg96Cys) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000528034] Chr11:62702476 [GRCh38]
Chr11:62469948 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.93T>G (p.Phe31Leu) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000817789] Chr11:62705420 [GRCh38]
Chr11:62472892 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.672-2A>C single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000412540] Chr11:62691423 [GRCh38]
Chr11:62458895 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.193delinsGGA (p.Pro65fs) indel Congenital generalized lipodystrophy type 2 [RCV000412545] Chr11:62705320 [GRCh38]
Chr11:62472792 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.142C>T (p.Leu48Phe) single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000412592] Chr11:62705371 [GRCh38]
Chr11:62472843 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.782dup (p.Ile262fs) duplication Congenital generalized lipodystrophy type 2 [RCV000412601] Chr11:62691310..62691311 [GRCh38]
Chr11:62458782..62458783 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.574-2A>G single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000412607] Chr11:62692475 [GRCh38]
Chr11:62459947 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.672-2A>G single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000412618] Chr11:62691423 [GRCh38]
Chr11:62458895 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.154_155dup (p.Tyr53fs) duplication Congenital generalized lipodystrophy type 2 [RCV000412654] Chr11:62705357..62705358 [GRCh38]
Chr11:62472829..62472830 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.955G>A (p.Gly319Arg) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000533481] Chr11:62690793 [GRCh38]
Chr11:62458265 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.614A>G (p.Lys205Arg) single nucleotide variant not provided [RCV000730857] Chr11:62692433 [GRCh38]
Chr11:62459905 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.429T>C (p.Ser143=) single nucleotide variant not specified [RCV000417509] Chr11:62694577 [GRCh38]
Chr11:62462049 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.1090C>T (p.Pro364Ser) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000653947]|not provided [RCV000441284] Chr11:62690474 [GRCh38]
Chr11:62457946 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.814-8C>T single nucleotide variant not specified [RCV000441305] Chr11:62691149 [GRCh38]
Chr11:62458621 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.578T>A (p.Val193Glu) single nucleotide variant not provided [RCV000441325] Chr11:62692469 [GRCh38]
Chr11:62459941 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.591A>G (p.Gly197=) single nucleotide variant not provided [RCV000713443] Chr11:62692456 [GRCh38]
Chr11:62459928 [GRCh37]
Chr11:11q12.3		 likely benign
NM_001130702.2(BSCL2):c.*101_*106TTCTGC[1] microsatellite Charcot-Marie-Tooth disease, type 2 [RCV000464883]|Monogenic diabetes [RCV000445376] Chr11:62690446..62690451 [GRCh38]
Chr11:62457918..62457923 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.439-1G>C single nucleotide variant Monogenic diabetes [RCV000445443] Chr11:62692798 [GRCh38]
Chr11:62460270 [GRCh37]
Chr11:11q12.3		 pathogenic|uncertain significance
NM_032667.6(BSCL2):c.468C>T (p.Leu156=) single nucleotide variant not specified [RCV000418216] Chr11:62692768 [GRCh38]
Chr11:62460240 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.678G>C (p.Leu226=) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000653990]|not specified [RCV000427891] Chr11:62691415 [GRCh38]
Chr11:62458887 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.212+15C>G single nucleotide variant not specified [RCV000442135] Chr11:62705286 [GRCh38]
Chr11:62472758 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.7A>C (p.Asn3His) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000702768]|Monogenic diabetes [RCV000445522] Chr11:62705506 [GRCh38]
Chr11:62472978 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.240A>T (p.Ser80=) single nucleotide variant not specified [RCV000418332] Chr11:62702522 [GRCh38]
Chr11:62469994 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.-105-19C>T single nucleotide variant not specified [RCV000436715] Chr11:62705636 [GRCh38]
Chr11:62473108 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.1169G>T (p.Arg390Leu) single nucleotide variant not provided [RCV000426452] Chr11:62690395 [GRCh38]
Chr11:62457867 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.825A>G (p.Arg275=) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000868324]|not specified [RCV000433307] Chr11:62691130 [GRCh38]
Chr11:62458602 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.-63G>C single nucleotide variant not specified [RCV000437072] Chr11:62705575 [GRCh38]
Chr11:62473047 [GRCh37]
Chr11:11q12.3		 likely benign
GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1 copy number loss See cases [RCV000448355] Chr11:61840997..62987330 [GRCh37]
Chr11:11q12.3		 likely pathogenic
NM_032667.6(BSCL2):c.652_662del (p.Ala218fs) deletion Congenital generalized lipodystrophy type 2 [RCV000487432] Chr11:62692385..62692395 [GRCh38]
Chr11:62459857..62459867 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.776G>C (p.Trp259Ser) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000471861]|not specified [RCV000517808] Chr11:62691317 [GRCh38]
Chr11:62458789 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.1162G>T (p.Ala388Ser) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000460819] Chr11:62690402 [GRCh38]
Chr11:62457874 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.953C>T (p.Ser318Leu) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000464780]|not provided [RCV001091623] Chr11:62690795 [GRCh38]
Chr11:62458267 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.119T>A (p.Leu40His) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001234361]|not provided [RCV000485905] Chr11:62705394 [GRCh38]
Chr11:62472866 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.731C>T (p.Thr244Ile) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000472825] Chr11:62691362 [GRCh38]
Chr11:62458834 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.750dup (p.Leu251fs) duplication Congenital generalized lipodystrophy type 2 [RCV000503732] Chr11:62691342..62691343 [GRCh38]
Chr11:62458814..62458815 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.-1037A>T single nucleotide variant not provided [RCV000493815] Chr11:62707134 [GRCh38]
Chr11:62474606 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.491_493del microsatellite Charcot-Marie-Tooth disease, type 2 [RCV001070223]|not provided [RCV000494386] Chr11:62692743..62692745 [GRCh38]
Chr11:62460215..62460217 [GRCh37]
Chr11:11q12.3		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_032667.6(BSCL2):c.800G>A (p.Arg267His) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000698889] Chr11:62691293 [GRCh38]
Chr11:62458765 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.877C>T (p.Pro293Ser) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000532138] Chr11:62691078 [GRCh38]
Chr11:62458550 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.652G>A (p.Ala218Thr) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000554606]|not provided [RCV000994647] Chr11:62692395 [GRCh38]
Chr11:62459867 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.57C>T (p.Val19=) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000541985] Chr11:62705456 [GRCh38]
Chr11:62472928 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.314C>T (p.Pro105Leu) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000536090] Chr11:62694692 [GRCh38]
Chr11:62462164 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.-27G>A single nucleotide variant not specified [RCV000615213] Chr11:62705539 [GRCh38]
Chr11:62473011 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.269C>G (p.Ser90Trp) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789082]|Charcot-Marie-Tooth disease, type 2 [RCV000536990]|NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC [RCV001270682] Chr11:62702493 [GRCh38]
Chr11:62469965 [GRCh37]
Chr11:11q12.3		 pathogenic|likely pathogenic|uncertain significance
NM_032667.6(BSCL2):c.114C>T (p.Ile38=) single nucleotide variant not specified [RCV000612540] Chr11:62705399 [GRCh38]
Chr11:62472871 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.1084A>G (p.Asn362Asp) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000653841] Chr11:62690480 [GRCh38]
Chr11:62457952 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.213-7C>T single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000653959] Chr11:62702556 [GRCh38]
Chr11:62470028 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.294+7A>G single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000653957] Chr11:62702461 [GRCh38]
Chr11:62469933 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.880+6dup duplication Charcot-Marie-Tooth disease, type 2 [RCV000654020] Chr11:62691067..62691068 [GRCh38]
Chr11:62458539..62458540 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.909G>A (p.Pro303=) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000654025] Chr11:62690839 [GRCh38]
Chr11:62458311 [GRCh37]
Chr11:11q12.3		 likely benign
NC_000011.9:g.(?_62457819)_(62462203_?)dup duplication Charcot-Marie-Tooth disease, type 2 [RCV000654031] Chr11:62690347..62694731 [GRCh38]
Chr11:62457819..62462203 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.216C>T (p.Thr72=) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000654004] Chr11:62702546 [GRCh38]
Chr11:62470018 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.1062T>C (p.Asp354=) single nucleotide variant not provided [RCV000654016] Chr11:62690502 [GRCh38]
Chr11:62457974 [GRCh37]
Chr11:11q12.3		 likely benign
NC_000011.10:g.(?_62702448)_(62702569_?)del deletion Charcot-Marie-Tooth disease, type 2 [RCV000654033] Chr11:62702448..62702569 [GRCh38]
Chr11:62469920..62470041 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.-108T>C single nucleotide variant not specified [RCV000608661] Chr11:62706205 [GRCh38]
Chr11:62473677 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.618C>T (p.Arg206=) single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV001104263]|Distal hereditary motor neuronopathy type 5 [RCV001104262]|not specified [RCV000611592] Chr11:62692429 [GRCh38]
Chr11:62459901 [GRCh37]
Chr11:11q12.3		 likely benign|uncertain significance
NM_032667.6(BSCL2):c.1042+19C>T single nucleotide variant not specified [RCV000614516] Chr11:62690593 [GRCh38]
Chr11:62458065 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.916_917del (p.Asp306fs) deletion Charcot-Marie-Tooth disease, type 2 [RCV000544751] Chr11:62690831..62690832 [GRCh38]
Chr11:62458303..62458304 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.674A>G (p.Tyr225Cys) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000699480] Chr11:62691419 [GRCh38]
Chr11:62458891 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.581C>T (p.Pro194Leu) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000687331] Chr11:62692466 [GRCh38]
Chr11:62459938 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.1106C>T (p.Ala369Val) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000686002]|Congenital generalized lipodystrophy type 2 [RCV000763757] Chr11:62690458 [GRCh38]
Chr11:62457930 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.1010G>A (p.Gly337Glu) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000688210]|Congenital generalized lipodystrophy type 2 [RCV001106916]|Distal hereditary motor neuronopathy type 5 [RCV001106915] Chr11:62690644 [GRCh38]
Chr11:62458116 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.846G>T (p.Lys282Asn) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000691320] Chr11:62691109 [GRCh38]
Chr11:62458581 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.167A>G (p.Tyr56Cys) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000690113] Chr11:62705346 [GRCh38]
Chr11:62472818 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.928G>T (p.Asp310Tyr) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000699605] Chr11:62690820 [GRCh38]
Chr11:62458292 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.487G>T (p.Val163Phe) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000705740] Chr11:62692749 [GRCh38]
Chr11:62460221 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.440T>C (p.Val147Ala) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000697169] Chr11:62692796 [GRCh38]
Chr11:62460268 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.438G>A (p.Ser146=) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000818318] Chr11:62694568 [GRCh38]
Chr11:62462040 [GRCh37]
Chr11:11q12.3		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_032667.6(BSCL2):c.315G>T (p.Pro105=) single nucleotide variant not provided [RCV000936409] Chr11:62694691 [GRCh38]
Chr11:62462163 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.584C>T (p.Thr195Ile) single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000761420] Chr11:62692463 [GRCh38]
Chr11:62459935 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.1043-2A>C single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000761421] Chr11:62690523 [GRCh38]
Chr11:62457995 [GRCh37]
Chr11:11q12.3		 likely pathogenic
NM_032667.6(BSCL2):c.-61T>A single nucleotide variant not provided [RCV000761776] Chr11:62705573 [GRCh38]
Chr11:62473045 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.212+1G>T single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000754916] Chr11:62705300 [GRCh38]
Chr11:62472772 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.545_546insCCG (p.Glu182delinsAspArg) insertion Congenital generalized lipodystrophy type 2 [RCV000754918] Chr11:62692690..62692691 [GRCh38]
Chr11:62460162..62460163 [GRCh37]
Chr11:11q12.3		 likely pathogenic
NM_032667.6(BSCL2):c.210C>G (p.Tyr70Ter) single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000754919] Chr11:62705303 [GRCh38]
Chr11:62472775 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.439-6C>A single nucleotide variant not provided [RCV000993056] Chr11:62692803 [GRCh38]
Chr11:62460275 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.910C>A (p.Gln304Lys) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000983962] Chr11:62690838 [GRCh38]
Chr11:62458310 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.294+8T>G single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000867569] Chr11:62702460 [GRCh38]
Chr11:62469932 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.212+10G>A single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000868390] Chr11:62705291 [GRCh38]
Chr11:62472763 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.340C>G (p.Leu114Val) single nucleotide variant not provided [RCV000869305] Chr11:62694666 [GRCh38]
Chr11:62462138 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.105C>T (p.Phe35=) single nucleotide variant not provided [RCV000869028] Chr11:62705408 [GRCh38]
Chr11:62472880 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.354T>C (p.Pro118=) single nucleotide variant not provided [RCV000883937] Chr11:62694652 [GRCh38]
Chr11:62462124 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.714T>G (p.Gly238=) single nucleotide variant not provided [RCV000865601] Chr11:62691379 [GRCh38]
Chr11:62458851 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.432G>A (p.Ser144=) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000864966] Chr11:62694574 [GRCh38]
Chr11:62462046 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.153C>T (p.Ser51=) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000865472] Chr11:62705360 [GRCh38]
Chr11:62472832 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.651C>T (p.His217=) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000868858] Chr11:62692396 [GRCh38]
Chr11:62459868 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.65G>A (p.Gly22Asp) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001062121] Chr11:62705448 [GRCh38]
Chr11:62472920 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.841C>T (p.Arg281Trp) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001043106] Chr11:62691114 [GRCh38]
Chr11:62458586 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.78G>T (p.Arg26Ser) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001061580] Chr11:62705435 [GRCh38]
Chr11:62472907 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.144C>G (p.Leu48=) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001041932] Chr11:62705369 [GRCh38]
Chr11:62472841 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.904A>G (p.Thr302Ala) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001048120] Chr11:62690844 [GRCh38]
Chr11:62458316 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.17C>T (p.Pro6Leu) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001060434] Chr11:62705496 [GRCh38]
Chr11:62472968 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_001130702.2(BSCL2):c.*9_*11GAG[1] microsatellite Charcot-Marie-Tooth disease, type 2 [RCV000862805]|Monogenic diabetes [RCV001174399] Chr11:62690634..62690636 [GRCh38]
Chr11:62458106..62458108 [GRCh37]
Chr11:11q12.3		 likely benign|uncertain significance
NM_032667.6(BSCL2):c.1182C>T (p.Thr394=) single nucleotide variant not provided [RCV000937643] Chr11:62690382 [GRCh38]
Chr11:62457854 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.420C>T (p.Ile140=) single nucleotide variant not provided [RCV000979014] Chr11:62694586 [GRCh38]
Chr11:62462058 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.393C>G (p.Ser131=) single nucleotide variant not provided [RCV000871292] Chr11:62694613 [GRCh38]
Chr11:62462085 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.439-6C>T single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000861941] Chr11:62692803 [GRCh38]
Chr11:62460275 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.1128A>G (p.Leu376=) single nucleotide variant not provided [RCV000978567] Chr11:62690436 [GRCh38]
Chr11:62457908 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.561T>C (p.Tyr187=) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000891829] Chr11:62692675 [GRCh38]
Chr11:62460147 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.573+69A>G single nucleotide variant not provided [RCV000837727] Chr11:62692594 [GRCh38]
Chr11:62460066 [GRCh37]
Chr11:11q12.3		 benign
NM_032667.6(BSCL2):c.295-129G>T single nucleotide variant not provided [RCV000837809] Chr11:62694840 [GRCh38]
Chr11:62462312 [GRCh37]
Chr11:11q12.3		 benign
NM_001130702.2(BSCL2):c.*101_*106TTCTGC[3] microsatellite Charcot-Marie-Tooth disease, type 2 [RCV000800835] Chr11:62690445..62690446 [GRCh38]
Chr11:62457917..62457918 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.842G>T (p.Arg281Leu) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000792857] Chr11:62691113 [GRCh38]
Chr11:62458585 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6:c.574-49T>C single nucleotide variant not provided [RCV000829655] Chr11:62459994 [GRCh37]
Chr11:11q12.3		 benign
NM_032667.6(BSCL2):c.286C>A (p.Arg96Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV001027498]|Charcot-Marie-Tooth disease, type 2 [RCV000794765] Chr11:62702476 [GRCh38]
Chr11:62469948 [GRCh37]
Chr11:11q12.3		 likely pathogenic|uncertain significance
NM_032667.6(BSCL2):c.295-34A>T single nucleotide variant not provided [RCV000833494] Chr11:62694745 [GRCh38]
Chr11:62462217 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.294+123G>A single nucleotide variant not provided [RCV000836808] Chr11:62702345 [GRCh38]
Chr11:62469817 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.574-79G>T single nucleotide variant not provided [RCV000837132] Chr11:62692552 [GRCh38]
Chr11:62460024 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.1052C>T (p.Ser351Phe) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000817177] Chr11:62690512 [GRCh38]
Chr11:62457984 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.1042+6G>A single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000821986] Chr11:62690606 [GRCh38]
Chr11:62458078 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.968A>G (p.Gln323Arg) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000823295] Chr11:62690686 [GRCh38]
Chr11:62458158 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.294+182C>T single nucleotide variant not provided [RCV000836867] Chr11:62702286 [GRCh38]
Chr11:62469758 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.474G>C (p.Met158Ile) single nucleotide variant not provided [RCV000994648] Chr11:62692762 [GRCh38]
Chr11:62460234 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.74G>C (p.Arg25Pro) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000803805] Chr11:62705439 [GRCh38]
Chr11:62472911 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.212G>C (p.Arg71Thr) single nucleotide variant not provided [RCV001091625] Chr11:62705301 [GRCh38]
Chr11:62472773 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.654G>A (p.Ala218=) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000864157] Chr11:62692393 [GRCh38]
Chr11:62459865 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.949C>A (p.Pro317Thr) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000796804] Chr11:62690799 [GRCh38]
Chr11:62458271 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.268T>G (p.Ser90Ala) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000797348] Chr11:62702494 [GRCh38]
Chr11:62469966 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.152C>T (p.Ser51Phe) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000797497] Chr11:62705361 [GRCh38]
Chr11:62472833 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.-1574T>G single nucleotide variant not provided [RCV000827691] Chr11:62707671 [GRCh38]
Chr11:62475143 [GRCh37]
Chr11:11q12.3		 likely benign
GRCh37/hg19 11q12.3(chr11:62314663-62788240)x3 copy number gain not provided [RCV000849841] Chr11:62314663..62788240 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.274A>G (p.Thr92Ala) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001228343] Chr11:62702488 [GRCh38]
Chr11:62469960 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.1090CCTGCT[4] (p.364PA[4]) microsatellite Charcot-Marie-Tooth disease, type 2 [RCV001213787] Chr11:62690456..62690457 [GRCh38]
Chr11:62457928..62457929 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.643C>T (p.Arg215Cys) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001224190] Chr11:62692404 [GRCh38]
Chr11:62459876 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.812A>C (p.Gln271Pro) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001224191] Chr11:62691281 [GRCh38]
Chr11:62458753 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.1108T>G (p.Ser370Ala) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001223580] Chr11:62690456 [GRCh38]
Chr11:62457928 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.934G>T (p.Glu312Ter) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001240096] Chr11:62690814 [GRCh38]
Chr11:62458286 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.1169_1194del (p.Arg390fs) deletion Charcot-Marie-Tooth disease, type 2 [RCV001218067] Chr11:62690370..62690395 [GRCh38]
Chr11:62457842..62457867 [GRCh37]
Chr11:11q12.3		 pathogenic
NM_032667.6(BSCL2):c.962-1del deletion Charcot-Marie-Tooth disease, type 2 [RCV001232406] Chr11:62690693 [GRCh38]
Chr11:62458165 [GRCh37]
Chr11:11q12.3		 likely pathogenic
NM_032667.6(BSCL2):c.573G>T (p.Ser191=) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001210702] Chr11:62692663 [GRCh38]
Chr11:62460135 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.227C>G (p.Ser76Cys) single nucleotide variant not provided [RCV000993054] Chr11:62702535 [GRCh38]
Chr11:62470007 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.1177C>T (p.Pro393Ser) single nucleotide variant not provided [RCV000994646] Chr11:62690387 [GRCh38]
Chr11:62457859 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.156C>T (p.Phe52=) single nucleotide variant not provided [RCV000980172] Chr11:62705357 [GRCh38]
Chr11:62472829 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.439-9C>T single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000938503] Chr11:62692806 [GRCh38]
Chr11:62460278 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.855A>G (p.Gln285=) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000866876] Chr11:62691100 [GRCh38]
Chr11:62458572 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.961+8G>A single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000892251] Chr11:62690779 [GRCh38]
Chr11:62458251 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.582G>A (p.Pro194=) single nucleotide variant not provided [RCV000872389] Chr11:62692465 [GRCh38]
Chr11:62459937 [GRCh37]
Chr11:11q12.3		 likely benign
NM_012202.5(GNG3):c.135T>C (p.Cys45=) single nucleotide variant not provided [RCV000932013] Chr11:62708713 [GRCh38]
Chr11:62476185 [GRCh37]
Chr11:11q12.3		 benign
NM_032667.6(BSCL2):c.600T>C (p.Ile200=) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000980683] Chr11:62692447 [GRCh38]
Chr11:62459919 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.1020G>A (p.Glu340=) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000983348] Chr11:62690634 [GRCh38]
Chr11:62458106 [GRCh37]
Chr11:11q12.3		 likely benign
NM_032667.6(BSCL2):c.1181C>T (p.Thr394Ile) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001207301] Chr11:62690383 [GRCh38]
Chr11:62457855 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.1184G>A (p.Cys395Tyr) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001036263] Chr11:62690380 [GRCh38]
Chr11:62457852 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.755T>G (p.Phe252Cys) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001208960] Chr11:62691338 [GRCh38]
Chr11:62458810 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.879A>G (p.Pro293=) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001209095] Chr11:62691076 [GRCh38]
Chr11:62458548 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.782del (p.Gly261fs) deletion Encephalopathy, progressive, with or without lipodystrophy [RCV001196242] Chr11:62691311 [GRCh38]
Chr11:62458783 [GRCh37]
Chr11:11q12.3		 likely pathogenic
NM_032667.6(BSCL2):c.657C>G (p.His219Gln) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001224970] Chr11:62692390 [GRCh38]
Chr11:62459862 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.230C>T (p.Ser77Phe) single nucleotide variant not provided [RCV000993055] Chr11:62702532 [GRCh38]
Chr11:62470004 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.794G>A (p.Arg265Gln) single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV001107586]|Distal hereditary motor neuronopathy type 5 [RCV001107587] Chr11:62691299 [GRCh38]
Chr11:62458771 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.1008C>T (p.Ser336=) single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV001106919]|Distal hereditary motor neuronopathy type 5 [RCV001106920] Chr11:62690646 [GRCh38]
Chr11:62458118 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.799C>T (p.Arg267Cys) single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV001107585]|Distal hereditary motor neuronopathy type 5 [RCV001107584] Chr11:62691294 [GRCh38]
Chr11:62458766 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.1121C>T (p.Pro374Leu) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001206636] Chr11:62690443 [GRCh38]
Chr11:62457915 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.667C>T (p.Leu223Phe) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001053294] Chr11:62692380 [GRCh38]
Chr11:62459852 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.22C>G (p.Pro8Ala) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001216682] Chr11:62705491 [GRCh38]
Chr11:62472963 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.617G>A (p.Arg206His) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001054049] Chr11:62692430 [GRCh38]
Chr11:62459902 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.*58G>A single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV001103860]|Distal hereditary motor neuronopathy type 5 [RCV001103859] Chr11:62690309 [GRCh38]
Chr11:62457781 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.777G>T (p.Trp259Cys) single nucleotide variant Monogenic diabetes [RCV001174401] Chr11:62691316 [GRCh38]
Chr11:62458788 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.196G>T (p.Val66Leu) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001215816] Chr11:62705317 [GRCh38]
Chr11:62472789 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.813+3C>T single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001217371] Chr11:62691277 [GRCh38]
Chr11:62458749 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.322G>T (p.Val108Phe) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001218442] Chr11:62694684 [GRCh38]
Chr11:62462156 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.905C>G (p.Thr302Ser) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001064393] Chr11:62690843 [GRCh38]
Chr11:62458315 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.748G>A (p.Val250Met) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001055720] Chr11:62691345 [GRCh38]
Chr11:62458817 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.294+1G>A single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001047252] Chr11:62702467 [GRCh38]
Chr11:62469939 [GRCh37]
Chr11:11q12.3		 likely pathogenic
NM_032667.6(BSCL2):c.438+5G>T single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001202806] Chr11:62694563 [GRCh38]
Chr11:62462035 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_032667.6(BSCL2):c.763A>G (p.Met255Val) single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV001056959] Chr11:62691330 [GRCh38]
Chr11:62458802 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_012202.5(GNG3):c.12_13dup (p.Thr5fs) microsatellite Inborn genetic diseases [RCV001266230] Chr11:62708304..62708305 [GRCh38]
Chr11:62475776..62475777 [GRCh37]
Chr11:11q12.3		 likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15832 AgrOrtholog
COSMIC BSCL2 COSMIC
Ensembl Genes ENSG00000168000 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000278893 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000301781 UniProtKB/TrEMBL
  ENSP00000354032 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000384080 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000384258 UniProtKB/TrEMBL
  ENSP00000385332 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000385561 UniProtKB/Swiss-Prot
  ENSP00000393728 UniProtKB/TrEMBL
  ENSP00000405265 UniProtKB/TrEMBL
  ENSP00000413209 UniProtKB/Swiss-Prot
  ENSP00000413340 UniProtKB/TrEMBL
  ENSP00000431782 UniProtKB/TrEMBL
  ENSP00000433888 UniProtKB/TrEMBL
  ENSP00000434149 UniProtKB/TrEMBL
  ENSP00000435500 UniProtKB/TrEMBL
  ENSP00000435831 UniProtKB/TrEMBL
  ENSP00000436026 UniProtKB/TrEMBL
  ENSP00000436991 UniProtKB/TrEMBL
  ENSP00000437044 UniProtKB/TrEMBL
  ENSP00000505838 ENTREZGENE
Ensembl Transcript ENST00000278893 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000301781 UniProtKB/TrEMBL
  ENST00000360796 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000403098 UniProtKB/TrEMBL
  ENST00000403550 UniProtKB/Swiss-Prot
  ENST00000405837 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000407022 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000413908 UniProtKB/TrEMBL
  ENST00000421906 UniProtKB/Swiss-Prot
  ENST00000448568 UniProtKB/TrEMBL
  ENST00000449636 UniProtKB/TrEMBL
  ENST00000464544 UniProtKB/TrEMBL
  ENST00000524862 UniProtKB/TrEMBL
  ENST00000525000 UniProtKB/TrEMBL
  ENST00000528874 UniProtKB/TrEMBL
  ENST00000530009 UniProtKB/TrEMBL
  ENST00000531524 UniProtKB/TrEMBL
  ENST00000532818 UniProtKB/TrEMBL
  ENST00000533982 UniProtKB/TrEMBL
  ENST00000679883 ENTREZGENE
GTEx ENSG00000168000 GTEx
HGNC ID HGNC:15832 ENTREZGENE
Human Proteome Map BSCL2 Human Proteome Map
InterPro Seipin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:26580 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 26580 ENTREZGENE
OMIM 269700 OMIM
  270685 OMIM
  606158 OMIM
  615924 OMIM
  619112 OMIM
PANTHER PTHR21212 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Seipin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25432 PharmGKB
UniProt A0A024R540 ENTREZGENE, UniProtKB/TrEMBL
  A0A024R549 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z544_HUMAN UniProtKB/TrEMBL
  B1PWS6_HUMAN UniProtKB/TrEMBL
  BSCL2_HUMAN UniProtKB/Swiss-Prot
  E9PIU3_HUMAN UniProtKB/TrEMBL
  E9PJK0_HUMAN UniProtKB/TrEMBL
  E9PJS9_HUMAN UniProtKB/TrEMBL
  E9PPN5_HUMAN UniProtKB/TrEMBL
  E9PR78_HUMAN UniProtKB/TrEMBL
  E9PRU2_HUMAN UniProtKB/TrEMBL
  E9PSB5_HUMAN UniProtKB/TrEMBL
  F8W7Q8_HUMAN UniProtKB/TrEMBL
  F8WER0_HUMAN UniProtKB/TrEMBL
  H0YF20_HUMAN UniProtKB/TrEMBL
  H7BXM1_HUMAN UniProtKB/TrEMBL
  H7BYY0_HUMAN UniProtKB/TrEMBL
  H7C2D5_HUMAN UniProtKB/TrEMBL
  J3KQ12_HUMAN UniProtKB/TrEMBL
  Q96G97 ENTREZGENE
UniProt Secondary G3XAE4 UniProtKB/Swiss-Prot
  Q567S1 UniProtKB/Swiss-Prot
  Q96SV1 UniProtKB/Swiss-Prot
  Q9BSQ0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 BSCL2  BSCL2 lipid droplet biogenesis associated, seipin    BSCL2, seipin lipid droplet biogenesis associated  Symbol and/or name change 5135510 APPROVED
2016-05-31 BSCL2  BSCL2, seipin lipid droplet biogenesis associated    Berardinelli-Seip congenital lipodystrophy 2 (seipin)  Symbol and/or name change 5135510 APPROVED
2016-03-09 BSCL2  Berardinelli-Seip congenital lipodystrophy 2 (seipin)  SPG17  spastic paraplegia 17 (Silver syndrome)  Data Merged 737654 PROVISIONAL