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:15832
Description: Enables phospholipid binding activity. Involved in lipid droplet formation. Located in endoplasmic reticulum membrane and lipid droplet. Implicated in autosomal dominant distal hereditary motor neuronopathy 13; congenital generalized lipodystrophy type 2; hereditary spastic paraplegia; hereditary spastic paraplegia 17; and lipodystrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously 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; HMND13; 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
GRCh381162,690,262 - 62,709,537 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1162,689,289 - 62,709,845 (-)EnsemblGRCh38hg38GRCh38
GRCh371162,457,734 - 62,477,009 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361162,214,323 - 62,231,395 (-)NCBINCBI36Build 36hg18NCBI36
Build 341162,214,322 - 62,231,395NCBI
Celera1159,786,117 - 59,805,403 (-)NCBICelera
Cytogenetic Map11q12.3NCBI
HuRef1158,786,515 - 58,805,891 (-)NCBIHuRef
CHM1_11162,340,845 - 62,360,176 (-)NCBICHM1_1
T2T-CHM13v2.01162,679,681 - 62,698,954 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal central motor function  (IAGP)
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)
Breast carcinoma  (IAGP)
Brisk reflexes  (IAGP)
Caudate atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Chaddock reflex  (IAGP)
Cirrhosis  (IAGP)
Clitoral hypertrophy  (IAGP)
Coarse facial features  (IAGP)
Cognitive impairment  (IAGP)
Cold-induced hand cramps  (IAGP)
Congenital generalized lipodystrophy  (IAGP)
Congenital onset  (IAGP)
Congestive heart failure  (IAGP)
Cystic angiomatosis of bone  (IAGP)
Decreased compound muscle action potential amplitude  (IAGP)
Decreased fertility  (IAGP)
Decreased fertility in females  (IAGP)
Decreased motor nerve conduction velocity  (IAGP)
Decreased serum leptin  (IAGP)
Delayed speech and language development  (IAGP)
Developmental regression  (IAGP)
Diabetes mellitus  (IAGP)
Difficulty walking  (IAGP)
Distal amyotrophy  (IAGP)
Distal lower limb amyotrophy  (IAGP)
Distal lower limb muscle weakness  (IAGP)
Distal muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Dystonia  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Elevated hemoglobin A1c  (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)
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 distal proprioception  (IAGP)
Impaired distal tactile sensation  (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)
Isolated systolic hypertension  (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)
Neutrophilia in presence of infection  (IAGP)
Oligomenorrhea  (IAGP)
Overgrowth of external genitalia  (IAGP)
Peripheral neuropathy  (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)
Reduced delayed hypersensitivity  (IAGP)
Reduced intraabdominal adipose tissue  (IAGP)
Reduced intrathoracic adipose tissue  (IAGP)
Reduced subcutaneous adipose tissue  (IAGP)
Respiratory failure  (IAGP)
Seizure  (IAGP)
Skeletal muscle hypertrophy  (IAGP)
Sleep abnormality  (IAGP)
Slowly progressive  (IAGP)
Spastic gait  (IAGP)
Spastic paraplegia  (IAGP)
Spasticity  (IAGP)
Splenomegaly  (IAGP)
Split hand  (IAGP)
Status epilepticus  (IAGP)
Symphalangism affecting the proximal phalanx of the 4th finger  (IAGP)
Tall stature  (IAGP)
Tetraparesis  (IAGP)
Thenar muscle atrophy  (IAGP)
Thenar muscle weakness  (IAGP)
Tremor  (IAGP)
Triangular face  (IAGP)
Triangular shaped proximal phalanx of the thumb  (IAGP)
Type II diabetes mellitus  (IAGP)
Umbilical hernia  (IAGP)
Unsteady gait  (IAGP)
Upper limb muscle weakness  (IAGP)
Ventricular septal hypertrophy  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis. Ebihara C, etal., Hum Mol Genet. 2015 Aug 1;24(15):4238-49. doi: 10.1093/hmg/ddv156. Epub 2015 May 1.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Localization, cDNA sequence and genomic organization of the rat seipin gene (Bscl2) and sequence analysis in inbred rat models of Type 2 diabetes mellitus. Kaisaki PJ, etal., Cytogenet Genome Res. 2002;98(1):71-4.
4. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Magre J, etal., Nat Genet. 2001 Aug;28(4):365-70.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes. Windpassinger C, etal., Hum Genet. 2003 Dec;114(1):99-109. Epub 2003 Sep 16.
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:32108980  
PMID:32236581   PMID:32296183   PMID:32320108   PMID:33147895   PMID:33315072   PMID:33481779   PMID:33545068   PMID:33674387   PMID:33845483   PMID:33961781   PMID:34323918   PMID:35696571  
PMID:35922214   PMID:36444643   PMID:36539320   PMID:37897134  


Genomics

Comparative Map Data
BSCL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381162,690,262 - 62,709,537 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1162,689,289 - 62,709,845 (-)EnsemblGRCh38hg38GRCh38
GRCh371162,457,734 - 62,477,009 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361162,214,323 - 62,231,395 (-)NCBINCBI36Build 36hg18NCBI36
Build 341162,214,322 - 62,231,395NCBI
Celera1159,786,117 - 59,805,403 (-)NCBICelera
Cytogenetic Map11q12.3NCBI
HuRef1158,786,515 - 58,805,891 (-)NCBIHuRef
CHM1_11162,340,845 - 62,360,176 (-)NCBICHM1_1
T2T-CHM13v2.01162,679,681 - 62,698,954 (-)NCBIT2T-CHM13v2.0
Bscl2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39198,814,831 - 8,826,047 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl198,814,831 - 8,826,047 (+)EnsemblGRCm39 Ensembl
GRCm38198,837,467 - 8,848,683 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl198,837,467 - 8,848,683 (+)EnsemblGRCm38mm10GRCm38
MGSCv37198,911,957 - 8,923,173 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36198,906,548 - 8,915,712 (+)NCBIMGSCv36mm8
Celera198,597,278 - 8,608,494 (+)NCBICelera
Cytogenetic Map19ANCBI
cM Map195.76NCBI
Bscl2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81215,160,764 - 215,172,540 (+)NCBIGRCr8
mRatBN7.21205,731,828 - 205,743,430 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1205,733,872 - 205,743,421 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1214,140,405 - 214,151,980 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01221,175,225 - 221,186,823 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01213,868,074 - 213,879,673 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01225,035,956 - 225,046,137 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1225,037,737 - 225,046,040 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01231,972,073 - 231,983,764 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41211,509,675 - 211,518,963 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v2963,916,547 - 63,934,968 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11164,959,248 - 64,976,477 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01158,046,842 - 58,064,219 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11161,399,314 - 61,416,494 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1161,399,314 - 61,416,494 (-)Ensemblpanpan1.1panPan2
BSCL2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11853,958,380 - 53,971,120 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1853,958,475 - 53,971,119 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1852,563,744 - 52,576,469 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01855,010,452 - 55,023,323 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1855,010,741 - 55,023,896 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11854,106,793 - 54,119,570 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01853,681,289 - 53,694,035 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01854,477,585 - 54,490,344 (+)NCBIUU_Cfam_GSD_1.0
Bscl2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494710,453,683 - 10,463,113 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936581567,662 - 578,267 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
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 - 9,064,886 (+)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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1111,198,033 - 11,216,709 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl111,200,356 - 11,216,622 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038108,534,784 - 108,555,013 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bscl2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249261,190,072 - 1,196,076 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249261,189,990 - 1,197,220 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BSCL2
496 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001122955.4(BSCL2):c.457G>A (p.Val153Ile) single nucleotide variant not provided [RCV000521639] Chr11:62702497 [GRCh38]
Chr11:62469969 [GRCh37]
Chr11:11q12.3
likely pathogenic|uncertain significance
NM_001122955.4(BSCL2):c.631G>A (p.Val211Met) single nucleotide variant not specified [RCV000517737] Chr11:62692797 [GRCh38]
Chr11:62460269 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.809G>T (p.Arg270Leu) single nucleotide variant Hereditary spastic paraplegia [RCV000516060] Chr11:62692430 [GRCh38]
Chr11:62459902 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.895G>A (p.Ala299Thr) 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_001122955.4(BSCL2):c.885G>A (p.Pro295=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001407254]|not provided [RCV000516898] Chr11:62691400 [GRCh38]
Chr11:62458872 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.384_385delinsGGA (p.Ser128fs) indel Berardinelli-Seip congenital lipodystrophy [RCV003311635]|Congenital generalized lipodystrophy type 2 [RCV000004789] Chr11:62705320..62705321 [GRCh38]
Chr11:62472792..62472793 [GRCh37]
Chr11:11q12.3
pathogenic|uncertain significance
NM_001122955.4(BSCL2):c.493_494insAA (p.Met165fs) insertion Berardinelli-Seip congenital lipodystrophy [RCV003311636]|Congenital generalized lipodystrophy type 2 [RCV000004790] Chr11:62694704..62694705 [GRCh38]
Chr11:62462176..62462177 [GRCh37]
Chr11:11q12.3
pathogenic|uncertain significance
NM_001122955.4(BSCL2):c.507_508del (p.Tyr170fs) deletion Berardinelli-Seip congenital lipodystrophy [RCV003311637]|Congenital generalized lipodystrophy type 2 [RCV000004791] Chr11:62694690..62694691 [GRCh38]
Chr11:62462162..62462163 [GRCh37]
Chr11:11q12.3
pathogenic|uncertain significance
BSCL2, 258-BP DEL/12-BP INS indel Congenital generalized lipodystrophy type 2 [RCV000004792] Chr11:11q13 pathogenic
NM_001122955.4(BSCL2):c.509_513del (p.Tyr170fs) deletion Berardinelli-Seip congenital lipodystrophy [RCV003311638]|Congenital generalized lipodystrophy type 2 [RCV000004793]|Severe neurodegenerative syndrome with lipodystrophy [RCV000133399]|not provided [RCV001091624] Chr11:62694685..62694689 [GRCh38]
Chr11:62462157..62462161 [GRCh37]
Chr11:11q12.3
pathogenic|uncertain significance
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs) duplication Berardinelli-Seip congenital lipodystrophy [RCV003311639]|Charcot-Marie-Tooth disease type 2 [RCV002512772]|Congenital generalized lipodystrophy type 2 [RCV000004794]|Congenital generalized lipodystrophy type 2 [RCV002496260] Chr11:62694680..62694681 [GRCh38]
Chr11:62462152..62462153 [GRCh37]
Chr11:11q12.3
pathogenic|uncertain significance
NM_001122955.4(BSCL2):c.630+1G>A single nucleotide variant Berardinelli-Seip congenital lipodystrophy [RCV003311641]|Congenital generalized lipodystrophy type 2 [RCV000004796] Chr11:62694567 [GRCh38]
Chr11:62462039 [GRCh37]
Chr11:11q12.3
pathogenic|uncertain significance
NM_001122955.4(BSCL2):c.828del (p.Tyr277fs) deletion Berardinelli-Seip congenital lipodystrophy [RCV003311643]|Charcot-Marie-Tooth disease type 2 [RCV001851654]|Congenital generalized lipodystrophy type 2 [RCV000004798] Chr11:62692411 [GRCh38]
Chr11:62459883 [GRCh37]
Chr11:11q12.3
pathogenic|uncertain significance
NM_001122955.4(BSCL2):c.863+5G>A single nucleotide variant Berardinelli-Seip congenital lipodystrophy [RCV003311644]|Congenital generalized lipodystrophy type 2 [RCV000004799]|Hereditary spastic paraplegia [RCV001847581] Chr11:62692371 [GRCh38]
Chr11:62459843 [GRCh37]
Chr11:11q12.3
pathogenic|uncertain significance
NM_001122955.4(BSCL2):c.864-3C>G single nucleotide variant Berardinelli-Seip congenital lipodystrophy [RCV003311645]|Congenital generalized lipodystrophy type 2 [RCV000004800] Chr11:62691424 [GRCh38]
Chr11:62458896 [GRCh37]
Chr11:11q12.3
pathogenic|uncertain significance
NM_001122955.4(BSCL2):c.424A>G (p.Thr142Ala) single nucleotide variant Berardinelli-Seip congenital lipodystrophy [RCV003311885]|Congenital generalized lipodystrophy type 2 [RCV000778331]|Neuronopathy, distal hereditary motor, type 5A [RCV001107687] Chr11:62702530 [GRCh38]
Chr11:62470002 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.884C>T (p.Pro295Leu) single nucleotide variant not provided [RCV000722475] Chr11:62691401 [GRCh38]
Chr11:62458873 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.445C>G (p.Pro149Ala) single nucleotide variant not provided [RCV000520209] Chr11:62702509 [GRCh38]
Chr11:62469981 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1193C>G (p.Pro398Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001235356]|Inborn genetic diseases [RCV002384011]|not provided [RCV000519487] Chr11:62690653 [GRCh38]
Chr11:62458125 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.604C>T (p.Arg202Ter) single nucleotide variant Berardinelli-Seip congenital lipodystrophy [RCV003311640]|Congenital generalized lipodystrophy type 2 [RCV000004795]|Inborn genetic diseases [RCV002326662]|Neuronopathy, distal hereditary motor, type 5C [RCV002298433] Chr11:62694594 [GRCh38]
Chr11:62462066 [GRCh37]
Chr11:11q12.3
pathogenic|uncertain significance
NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro) single nucleotide variant Berardinelli-Seip congenital lipodystrophy [RCV003311642]|Charcot-Marie-Tooth disease type 2 [RCV003581554]|Congenital generalized lipodystrophy type 2 [RCV000004797] Chr11:62692413 [GRCh38]
Chr11:62459885 [GRCh37]
Chr11:11q12.3
pathogenic|uncertain significance
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) single nucleotide variant Berardinelli-Seip congenital lipodystrophy [RCV003311646]|Charcot-Marie-Tooth disease type 2 [RCV000168078]|Hereditary spastic paraplegia 17 [RCV000004801]|Hereditary spastic paraplegia [RCV001847582]|Inborn genetic diseases [RCV002426488]|Neuronopathy, distal hereditary motor, type 5A [RCV000004802]|Neuronopathy, distal hereditary motor, type 5C [RCV001270680]|Peripheral neuropathy [RCV001813949]|not provided [RCV000340485]|not specified [RCV000507071] Chr11:62702499 [GRCh38]
Chr11:62469971 [GRCh37]
Chr11:11q12.3
pathogenic|uncertain significance
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) single nucleotide variant Abnormal central motor function [RCV001813950]|Berardinelli-Seip congenital lipodystrophy [RCV003311647]|Charcot-Marie-Tooth disease type 2 [RCV000547334]|Hereditary spastic paraplegia 17 [RCV000004803]|Neuronopathy, distal hereditary motor, type 5A [RCV000755016]|Neuronopathy, distal hereditary motor, type 5C [RCV001270681]|not provided [RCV000235980] Chr11:62702493 [GRCh38]
Chr11:62469965 [GRCh37]
Chr11:11q12.3
pathogenic|likely pathogenic|uncertain significance
NM_001122955.4(BSCL2):c.1015C>T (p.Arg339Ter) single nucleotide variant Berardinelli-Seip congenital lipodystrophy [RCV003311648]|Congenital generalized lipodystrophy type 2 [RCV000004804] Chr11:62691132 [GRCh38]
Chr11:62458604 [GRCh37]
Chr11:11q12.3
pathogenic|uncertain significance
NM_001122955.4(BSCL2):c.757G>T (p.Glu253Ter) single nucleotide variant Berardinelli-Seip congenital lipodystrophy [RCV003311649]|Charcot-Marie-Tooth disease type 2 [RCV000196081]|Congenital generalized lipodystrophy type 2 [RCV000004805] Chr11:62692671 [GRCh38]
Chr11:62460143 [GRCh37]
Chr11:11q12.3
pathogenic|uncertain significance
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_001122955.4(BSCL2):c.441C>T (p.Ser147=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001425140] Chr11:62702513 [GRCh38]
Chr11:62469985 [GRCh37]
Chr11:62226561 [NCBI36]
Chr11:11q12.3
likely benign|not provided
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001082147]|Congenital generalized lipodystrophy type 2 [RCV000300263]|Congenital generalized lipodystrophy type 2 [RCV002498501]|Hereditary spastic paraplegia [RCV001847675]|Inborn genetic diseases [RCV002426660]|Monogenic diabetes [RCV000664139]|Neuronopathy, distal hereditary motor, type 5A [RCV000357438]|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_001122955.4(BSCL2):c.1137A>G (p.Glu379=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000860294]|Congenital generalized lipodystrophy type 2 [RCV000377345]|Hereditary spastic paraplegia 17 [RCV001553922]|Hereditary spastic paraplegia [RCV001847676]|Neuronopathy, distal hereditary motor, type 5A [RCV000320427]|Neuronopathy, distal hereditary motor, type 5C [RCV001553921]|Severe neurodegenerative syndrome with lipodystrophy [RCV001553920]|Triangular shaped proximal phalanx of the thumb [RCV002463437]|not provided [RCV001707526]|not specified [RCV000116505] Chr11:62690803 [GRCh38]
Chr11:62458275 [GRCh37]
Chr11:11q12.3
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_001122955.4(BSCL2):c.538G>T (p.Glu180Ter) single nucleotide variant Berardinelli-Seip congenital lipodystrophy [RCV003311694]|Severe neurodegenerative syndrome with lipodystrophy [RCV000133398] Chr11:62694660 [GRCh38]
Chr11:62462132 [GRCh37]
Chr11:11q12.3
pathogenic|uncertain significance
NM_001122955.4(BSCL2):c.822_825dup (p.Ala276fs) duplication Encephalopathy, progressive, with or without lipodystrophy [RCV001294043] Chr11:62692413..62692414 [GRCh38]
Chr11:62459885..62459886 [GRCh37]
Chr11:11q12.3
pathogenic
NM_001122955.4(BSCL2):c.985C>T (p.Arg329Ter) single nucleotide variant Berardinelli-Seip congenital lipodystrophy [RCV003311693]|Charcot-Marie-Tooth disease type 2 [RCV000800475]|Congenital generalized lipodystrophy type 2 [RCV000412493]|Severe neurodegenerative syndrome with lipodystrophy [RCV000133397] Chr11:62691300 [GRCh38]
Chr11:62458772 [GRCh37]
Chr11:11q12.3
pathogenic|uncertain significance
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_001122955.4(BSCL2):c.-88C>T single nucleotide variant not provided [RCV001545591] Chr11:62707283 [GRCh38]
Chr11:62474755 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1167C>T (p.Ser389=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001078698]|Congenital generalized lipodystrophy type 2 [RCV000359811]|Neuronopathy, distal hereditary motor, type 5A [RCV000267577]|not provided [RCV000143800] Chr11:62690679 [GRCh38]
Chr11:62458151 [GRCh37]
Chr11:11q12.3
benign|likely benign
NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001086117]|Congenital generalized lipodystrophy type 2 [RCV003884374]|Hereditary spastic paraplegia [RCV001847805]|Inborn genetic diseases [RCV002326952]|Monogenic diabetes [RCV000445495]|not provided [RCV000724332] Chr11:62690389 [GRCh38]
Chr11:62457861 [GRCh37]
Chr11:11q12.3
likely benign|conflicting interpretations of pathogenicity|uncertain risk allele|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_001122955.4(BSCL2):c.882C>G (p.Phe294Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000168103] Chr11:62691403 [GRCh38]
Chr11:62458875 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.487-9C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002054113]|not provided [RCV000178377] Chr11:62694720 [GRCh38]
Chr11:62462192 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_001122955.4(BSCL2):c.1005+4G>T single nucleotide variant BSCL2-related condition [RCV003967493]|Charcot-Marie-Tooth disease type 2 [RCV000538782]|Inborn genetic diseases [RCV002415821]|not provided [RCV001721248]|not specified [RCV000194188] Chr11:62691276 [GRCh38]
Chr11:62458748 [GRCh37]
Chr11:11q12.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001122955.4(BSCL2):c.1005+4G>A single nucleotide variant not provided [RCV000179988] Chr11:62691276 [GRCh38]
Chr11:62458748 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001087807]|Congenital generalized lipodystrophy [RCV000328674]|Hereditary spastic paraplegia [RCV001847821]|Inborn genetic diseases [RCV002444724]|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_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001083233]|Congenital generalized lipodystrophy type 2 [RCV003884385]|Inborn genetic diseases [RCV002433863]|Monogenic diabetes [RCV001174400]|Severe neurodegenerative syndrome with lipodystrophy [RCV002467651]|not provided [RCV000766869]|not specified [RCV000192598] Chr11:62691116 [GRCh38]
Chr11:62458588 [GRCh37]
Chr11:11q12.3
likely benign|conflicting interpretations of pathogenicity|uncertain risk allele|uncertain significance
NM_001122955.4(BSCL2):c.641A>G (p.His214Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000205008] Chr11:62692787 [GRCh38]
Chr11:62460259 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1005+8G>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001413854] Chr11:62691272 [GRCh38]
Chr11:62458744 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001087921]|Congenital generalized lipodystrophy type 2 [RCV000329673]|Hereditary spastic paraplegia [RCV001847934]|Inborn genetic diseases [RCV002372202]|Neuronopathy, distal hereditary motor, type 5A [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_001122955.4(BSCL2):c.1049G>A (p.Arg350Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000205813]|Hereditary spastic paraplegia 17 [RCV003448287]|Inborn genetic diseases [RCV002444827]|not provided [RCV003441784] Chr11:62691098 [GRCh38]
Chr11:62458570 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.247G>A (p.Val83Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000524860]|Inborn genetic diseases [RCV002350387] Chr11:62705458 [GRCh38]
Chr11:62472930 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.759_760del (p.Asn254fs) microsatellite Congenital generalized lipodystrophy type 2 [RCV000754917] Chr11:62692668..62692669 [GRCh38]
Chr11:62460140..62460141 [GRCh37]
Chr11:11q12.3
pathogenic
NM_001122955.4(BSCL2):c.934G>A (p.Val312Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001071687]|Congenital generalized lipodystrophy type 2 [RCV002493373]|Inborn genetic diseases [RCV003166002]|not provided [RCV000755880] Chr11:62691351 [GRCh38]
Chr11:62458823 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1325C>T (p.Thr442Ile) single nucleotide variant not provided [RCV000219997] Chr11:62690431 [GRCh38]
Chr11:62457903 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1309G>C (p.Ala437Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002519749]|not provided [RCV000216520] Chr11:62690447 [GRCh38]
Chr11:62457919 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1034G>A (p.Arg345Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000232016]|Congenital generalized lipodystrophy type 2 [RCV002494664]|Inborn genetic diseases [RCV002444925]|not provided [RCV003319339] Chr11:62691113 [GRCh38]
Chr11:62458585 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.505C>T (p.Pro169Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000228112] Chr11:62694693 [GRCh38]
Chr11:62462165 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1288C>T (p.Pro430Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000234334]|Inborn genetic diseases [RCV003352809] Chr11:62690468 [GRCh38]
Chr11:62457940 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_001122955.4(BSCL2):c.1168G>A (p.Glu390Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001055347]|Congenital generalized lipodystrophy type 2 [RCV002500833]|Inborn genetic diseases [RCV002379048]|not provided [RCV000766613]|not specified [RCV000235323] Chr11:62690678 [GRCh38]
Chr11:62458150 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.299G>T (p.Cys100Phe) single nucleotide variant BSCL2-related condition [RCV003930012]|Charcot-Marie-Tooth disease type 2 [RCV000543721]|Congenital generalized lipodystrophy type 2 [RCV002479947]|Inborn genetic diseases [RCV002418047]|not provided [RCV000235352] Chr11:62705406 [GRCh38]
Chr11:62472878 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.487-14G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002055013]|not provided [RCV000235758] Chr11:62694725 [GRCh38]
Chr11:62462197 [GRCh37]
Chr11:11q12.3
benign|uncertain significance
NM_001122955.4(BSCL2):c.420C>T (p.Ser140=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002519836]|Inborn genetic diseases [RCV002446466]|not provided [RCV000235755] Chr11:62702534 [GRCh38]
Chr11:62470006 [GRCh37]
Chr11:11q12.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001122955.4(BSCL2):c.1201G>A (p.Gly401Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001229525]|Congenital generalized lipodystrophy type 2 [RCV001106917]|Inborn genetic diseases [RCV002429147]|Neuronopathy, distal hereditary motor, type 5A [RCV001106918]|not provided [RCV000236066] Chr11:62690645 [GRCh38]
Chr11:62458117 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.409G>A (p.Asp137Asn) 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_001122955.4(BSCL2):c.448G>A (p.Val150Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001080694]|Congenital generalized lipodystrophy type 2 [RCV000342082]|Inborn genetic diseases [RCV002450739]|Neuronopathy, distal hereditary motor, type 5A [RCV000280085]|not provided [RCV000236421] Chr11:62702506 [GRCh38]
Chr11:62469978 [GRCh37]
Chr11:11q12.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001122955.4(BSCL2):c.272T>C (p.Leu91Pro) single nucleotide variant not provided [RCV000236351] Chr11:62705433 [GRCh38]
Chr11:62472905 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1006-2A>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_001122955.4(BSCL2):c.745G>A (p.Ala249Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001086940]|Congenital generalized lipodystrophy type 2 [RCV000269156]|Inborn genetic diseases [RCV002347931]|Neuronopathy, distal hereditary motor, type 5A [RCV000366070]|not provided [RCV000236915] Chr11:62692683 [GRCh38]
Chr11:62460155 [GRCh37]
Chr11:11q12.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001122955.4(BSCL2):c.486+11G>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002057974]|Congenital generalized lipodystrophy type 2 [RCV000371688]|Hereditary spastic paraplegia 17 [RCV001553989]|Neuronopathy, distal hereditary motor, type 5A [RCV000338014]|Neuronopathy, distal hereditary motor, type 5C [RCV001553988]|Severe neurodegenerative syndrome with lipodystrophy [RCV001553987]|not provided [RCV001711675]|not specified [RCV000245987] Chr11:62702457 [GRCh38]
Chr11:62469929 [GRCh37]
Chr11:11q12.3
benign
NM_001122955.4(BSCL2):c.60C>G (p.Asp20Glu) single nucleotide variant Monogenic diabetes [RCV000445370]|not provided [RCV001597005]|not specified [RCV000250923] Chr11:62707136 [GRCh38]
Chr11:62474608 [GRCh37]
Chr11:11q12.3
benign
NM_001122955.4(BSCL2):c.765+15C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002057975]|Congenital generalized lipodystrophy type 2 [RCV000305595]|Neuronopathy, distal hereditary motor, type 5A [RCV000358073]|not provided [RCV001640508]|not specified [RCV000242906] Chr11:62692648 [GRCh38]
Chr11:62460120 [GRCh37]
Chr11:11q12.3
benign
NM_001122955.4(BSCL2):c.766-49T>C single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV001553980]|Hereditary spastic paraplegia 17 [RCV001553982]|Neuronopathy, distal hereditary motor, type 5C [RCV001553981]|Severe neurodegenerative syndrome with lipodystrophy [RCV001553923]|not provided [RCV000829655]|not specified [RCV000247876] Chr11:62692522 [GRCh38]
Chr11:62459994 [GRCh37]
Chr11:11q12.3
benign
NM_001122955.4(BSCL2):c.1006-50T>G single nucleotide variant not provided [RCV001571698]|not specified [RCV000250535] Chr11:62691191 [GRCh38]
Chr11:62458663 [GRCh37]
Chr11:11q12.3
benign|likely benign
NM_001122955.4(BSCL2):c.745G>T (p.Ala249Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001859815]|Congenital generalized lipodystrophy type 2 [RCV000265700]|Neuronopathy, distal hereditary motor, type 5A [RCV000309083] Chr11:62692683 [GRCh38]
Chr11:62460155 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.184C>T (p.Leu62Phe) single nucleotide variant BSCL2-related condition [RCV003950023]|Congenital generalized lipodystrophy type 2 [RCV000302313]|Neuronopathy, distal hereditary motor, type 5A [RCV000398286] Chr11:62705521 [GRCh38]
Chr11:62472993 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.88-662C>A single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000286276]|Hereditary spastic paraplegia [RCV001848084]|Neuronopathy, distal hereditary motor, type 5A [RCV000378430]|not provided [RCV001778896] Chr11:62706279 [GRCh38]
Chr11:62473751 [GRCh37]
Chr11:11q12.3
benign|likely benign|uncertain significance
NM_001122955.4(BSCL2):c.615C>T (p.Ser205=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001496139]|Congenital generalized lipodystrophy type 2 [RCV000326138]|Inborn genetic diseases [RCV002328805]|Neuronopathy, distal hereditary motor, type 5A [RCV000387742]|not provided [RCV000827121] Chr11:62694583 [GRCh38]
Chr11:62462055 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_001122955.4(BSCL2):c.88-674G>T single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000347286]|Neuronopathy, distal hereditary motor, type 5A [RCV000289942] Chr11:62706291 [GRCh38]
Chr11:62473763 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_001122955.4(BSCL2):c.939C>T (p.Ile313=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001089354]|Congenital generalized lipodystrophy type 2 [RCV000351350]|Inborn genetic diseases [RCV002392840]|Neuronopathy, distal hereditary motor, type 5A [RCV000389555]|not provided [RCV000865057]|not specified [RCV000614057] Chr11:62691346 [GRCh38]
Chr11:62458818 [GRCh37]
Chr11:11q12.3
benign|likely benign
NM_001122955.4(BSCL2):c.1054A>G (p.Ile352Val) single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000381003]|Neuronopathy, distal hereditary motor, type 5A [RCV000289418] Chr11:62691093 [GRCh38]
Chr11:62458565 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1234+14T>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002056213]|Congenital generalized lipodystrophy type 2 [RCV000259295]|Neuronopathy, distal hereditary motor, type 5A [RCV000298141] Chr11:62690598 [GRCh38]
Chr11:62458070 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_001122955.4(BSCL2):c.861C>T (p.Leu287=) single nucleotide variant BSCL2-related condition [RCV003950022]|Charcot-Marie-Tooth disease type 2 [RCV000560796]|Congenital generalized lipodystrophy type 2 [RCV000350116]|Inborn genetic diseases [RCV002365350]|Neuronopathy, distal hereditary motor, type 5A [RCV000292822]|not provided [RCV001700048]|not specified [RCV000422175] Chr11:62692378 [GRCh38]
Chr11:62459850 [GRCh37]
Chr11:11q12.3
benign|likely benign|uncertain significance
NM_001122955.4(BSCL2):c.88-613G>A single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000371339]|Neuronopathy, distal hereditary motor, type 5A [RCV000274228]|not provided [RCV002280114] Chr11:62706230 [GRCh38]
Chr11:62473702 [GRCh37]
Chr11:11q12.3
benign|likely benign
NM_001122955.4(BSCL2):c.124C>T (p.Arg42Cys) single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000393471]|Neuronopathy, distal hereditary motor, type 5A [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_001122955.4(BSCL2):c.88-634G>C single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000263780]|Neuronopathy, distal hereditary motor, type 5A [RCV000316667] Chr11:62706251 [GRCh38]
Chr11:62473723 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val) single nucleotide variant BSCL2-related condition [RCV003940156]|Charcot-Marie-Tooth disease type 2 [RCV001083807]|Congenital generalized lipodystrophy type 2 [RCV000401336]|Inborn genetic diseases [RCV002365351]|Monogenic diabetes [RCV001174402]|Neuronopathy, distal hereditary motor, type 5A [RCV000301053]|not provided [RCV000431177]|not specified [RCV000518650] Chr11:62692394 [GRCh38]
Chr11:62459866 [GRCh37]
Chr11:11q12.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001122955.4(BSCL2):c.88-663G>A single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000320380]|Hereditary spastic paraplegia [RCV001848085]|Neuronopathy, distal hereditary motor, type 5A [RCV000377296]|not provided [RCV001778897] Chr11:62706280 [GRCh38]
Chr11:62473752 [GRCh37]
Chr11:11q12.3
benign|likely benign|uncertain significance
NM_001122955.4(BSCL2):c.544C>A (p.Pro182Thr) single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000386644]|Neuronopathy, distal hereditary motor, type 5A [RCV000280589] Chr11:62694654 [GRCh38]
Chr11:62462126 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.*49T>G single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000407298]|Neuronopathy, distal hereditary motor, type 5A [RCV000367640] Chr11:62690318 [GRCh38]
Chr11:62457790 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.968G>T (p.Trp323Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001850441]|Congenital generalized lipodystrophy type 2 [RCV002487263]|Inborn genetic diseases [RCV002411169]|not provided [RCV000316610] Chr11:62691317 [GRCh38]
Chr11:62458789 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.131G>A (p.Gly44Asp) single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000310424]|Neuronopathy, distal hereditary motor, type 5A [RCV000362779] Chr11:62705574 [GRCh38]
Chr11:62473046 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.823G>A (p.Gly275Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001089069]|Congenital generalized lipodystrophy type 2 [RCV000335926]|Inborn genetic diseases [RCV002365352]|Neuronopathy, distal hereditary motor, type 5A [RCV000399378]|not provided [RCV000866662] Chr11:62692416 [GRCh38]
Chr11:62459888 [GRCh37]
Chr11:11q12.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001513013]|Congenital generalized lipodystrophy type 2 [RCV000402160]|Congenital generalized lipodystrophy type 2 [RCV002504064]|Neuronopathy, distal hereditary motor, type 5A [RCV000340748]|not provided [RCV000713442] Chr11:62705572 [GRCh38]
Chr11:62473044 [GRCh37]
Chr11:11q12.3
benign|likely benign
NM_001122955.4(BSCL2):c.1317C>A (p.Val439=) single nucleotide variant Inborn genetic diseases [RCV002436229]|PPARG-related familial partial lipodystrophy [RCV000408866] Chr11:62690439 [GRCh38]
Chr11:62457911 [GRCh37]
Chr11:11q12.3
likely pathogenic|likely benign
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_001122955.4(BSCL2):c.605G>A (p.Arg202Gln) 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_001122955.4(BSCL2):c.88-620A>C single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000356267]|Neuronopathy, distal hereditary motor, type 5A [RCV000331883] Chr11:62706237 [GRCh38]
Chr11:62473709 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1234+7G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001421953]|Congenital generalized lipodystrophy type 2 [RCV001105808]|Hereditary spastic paraplegia [RCV001848989]|Neuronopathy, distal hereditary motor, type 5A [RCV001105807]|not provided [RCV002227188]|not specified [RCV000604138] Chr11:62690605 [GRCh38]
Chr11:62458077 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_001122955.4(BSCL2):c.630+11G>T single nucleotide variant not provided [RCV001697967] Chr11:62694557 [GRCh38]
Chr11:62462029 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1193C>T (p.Pro398Leu) single nucleotide variant Inborn genetic diseases [RCV000624133] Chr11:62690653 [GRCh38]
Chr11:62458125 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.478C>T (p.Arg160Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000528034] Chr11:62702476 [GRCh38]
Chr11:62469948 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.285T>G (p.Phe95Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000817789]|not provided [RCV003480868] Chr11:62705420 [GRCh38]
Chr11:62472892 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.864-2A>C single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000412540] Chr11:62691423 [GRCh38]
Chr11:62458895 [GRCh37]
Chr11:11q12.3
pathogenic|not provided
NM_001122955.4(BSCL2):c.385delinsGGA (p.Pro129fs) indel Berardinelli-Seip congenital lipodystrophy [RCV003311800]|Congenital generalized lipodystrophy type 2 [RCV000412545] Chr11:62705320 [GRCh38]
Chr11:62472792 [GRCh37]
Chr11:11q12.3
pathogenic|uncertain significance|not provided
NM_001122955.4(BSCL2):c.334C>T (p.Leu112Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003743704]|Congenital generalized lipodystrophy type 2 [RCV000412592] Chr11:62705371 [GRCh38]
Chr11:62472843 [GRCh37]
Chr11:11q12.3
pathogenic|uncertain significance|not provided
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs) duplication Berardinelli-Seip congenital lipodystrophy [RCV003311803]|Charcot-Marie-Tooth disease type 2 [RCV001387719]|Congenital generalized lipodystrophy type 2 [RCV000412601]|Congenital generalized lipodystrophy type 2 [RCV002502439]|not provided [RCV002473000] Chr11:62691310..62691311 [GRCh38]
Chr11:62458782..62458783 [GRCh37]
Chr11:11q12.3
pathogenic|uncertain significance
NM_001122955.4(BSCL2):c.766-2A>G single nucleotide variant Berardinelli-Seip congenital lipodystrophy [RCV003311801]|Congenital generalized lipodystrophy type 2 [RCV000412607] Chr11:62692475 [GRCh38]
Chr11:62459947 [GRCh37]
Chr11:11q12.3
pathogenic|uncertain significance
NM_001122955.4(BSCL2):c.864-2A>G single nucleotide variant Berardinelli-Seip congenital lipodystrophy [RCV003311802]|Congenital generalized lipodystrophy type 2 [RCV000412618] Chr11:62691423 [GRCh38]
Chr11:62458895 [GRCh37]
Chr11:11q12.3
pathogenic|uncertain significance|not provided
NM_001122955.4(BSCL2):c.346_347dup (p.Tyr117fs) duplication Berardinelli-Seip congenital lipodystrophy [RCV003311799]|Congenital generalized lipodystrophy type 2 [RCV000412654] Chr11:62705357..62705358 [GRCh38]
Chr11:62472829..62472830 [GRCh37]
Chr11:11q12.3
pathogenic|uncertain significance|not provided
NM_001122955.4(BSCL2):c.1147G>A (p.Gly383Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000533481]|Congenital generalized lipodystrophy type 2 [RCV002483492]|Inborn genetic diseases [RCV002377176]|not provided [RCV001508668] Chr11:62690793 [GRCh38]
Chr11:62458265 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.806A>G (p.Lys269Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002535174]|Congenital generalized lipodystrophy type 2 [RCV002493330]|not provided [RCV000730857] Chr11:62692433 [GRCh38]
Chr11:62459905 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.621T>C (p.Ser207=) single nucleotide variant Inborn genetic diseases [RCV002328967]|not specified [RCV000417509] Chr11:62694577 [GRCh38]
Chr11:62462049 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1282C>T (p.Pro428Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000653947]|Congenital generalized lipodystrophy type 2 [RCV002488949]|Hereditary spastic paraplegia [RCV001848785]|Inborn genetic diseases [RCV002451026]|Severe neurodegenerative syndrome with lipodystrophy [RCV001335243]|not provided [RCV000441284] Chr11:62690474 [GRCh38]
Chr11:62457946 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1006-8C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002524893]|not provided [RCV001662383]|not specified [RCV000441305] Chr11:62691149 [GRCh38]
Chr11:62458621 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_001122955.4(BSCL2):c.770T>A (p.Val257Glu) single nucleotide variant not provided [RCV000441325] Chr11:62692469 [GRCh38]
Chr11:62459941 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.783A>G (p.Gly261=) single nucleotide variant not provided [RCV000713443] Chr11:62692456 [GRCh38]
Chr11:62459928 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1]) microsatellite Charcot-Marie-Tooth disease type 2 [RCV000464883]|Congenital generalized lipodystrophy type 2 [RCV002488990]|Congenital generalized lipodystrophy type 2 [RCV003884539]|Inborn genetic diseases [RCV002436366]|Monogenic diabetes [RCV000445376] Chr11:62690446..62690451 [GRCh38]
Chr11:62457918..62457923 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_001122955.4(BSCL2):c.631-1G>C single nucleotide variant Monogenic diabetes [RCV000445443] Chr11:62692798 [GRCh38]
Chr11:62460270 [GRCh37]
Chr11:11q12.3
pathogenic|uncertain significance
NM_001122955.4(BSCL2):c.660C>T (p.Leu220=) single nucleotide variant Inborn genetic diseases [RCV002339058]|not specified [RCV000418216] Chr11:62692768 [GRCh38]
Chr11:62460240 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.870G>C (p.Leu290=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000653990]|Inborn genetic diseases [RCV002365531]|not specified [RCV000427891] Chr11:62691415 [GRCh38]
Chr11:62458887 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.404+15C>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003581659]|not specified [RCV000442135] Chr11:62705286 [GRCh38]
Chr11:62472758 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.199A>C (p.Asn67His) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000702768]|Congenital generalized lipodystrophy type 2 [RCV002481355]|Congenital generalized lipodystrophy type 2 [RCV003884540]|Monogenic diabetes [RCV000445522] Chr11:62705506 [GRCh38]
Chr11:62472978 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.432A>T (p.Ser144=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002059754]|Inborn genetic diseases [RCV002451017]|not provided [RCV001704393] Chr11:62702522 [GRCh38]
Chr11:62469994 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.88-19C>T single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV002488943]|not specified [RCV000436715] Chr11:62705636 [GRCh38]
Chr11:62473108 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1361G>T (p.Arg454Leu) single nucleotide variant not provided [RCV000426452] Chr11:62690395 [GRCh38]
Chr11:62457867 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1017A>G (p.Arg339=) single nucleotide variant BSCL2-related condition [RCV003922753]|Charcot-Marie-Tooth disease type 2 [RCV000868324]|Inborn genetic diseases [RCV002429384]|not specified [RCV000433307] Chr11:62691130 [GRCh38]
Chr11:62458602 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.130G>C (p.Gly44Arg) 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_001122955.4(BSCL2):c.844_854del (p.Ala282fs) deletion Berardinelli-Seip congenital lipodystrophy [RCV003311824]|Congenital generalized lipodystrophy type 2 [RCV000487432]|Lipodystrophy [RCV001836829] Chr11:62692385..62692395 [GRCh38]
Chr11:62459857..62459867 [GRCh37]
Chr11:11q12.3
pathogenic|likely pathogenic|uncertain significance
NM_001122955.4(BSCL2):c.968G>C (p.Trp323Ser) 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_001122955.4(BSCL2):c.1354G>T (p.Ala452Ser) single nucleotide variant BSCL2-related Developmental and epileptic encephalopathy [RCV001836825]|Charcot-Marie-Tooth disease type 2 [RCV000460819]|Inborn genetic diseases [RCV002323748]|not provided [RCV002266964] Chr11:62690402 [GRCh38]
Chr11:62457874 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000464780]|Congenital generalized lipodystrophy type 2 [RCV002489080]|Hereditary spastic paraplegia [RCV001848815]|Inborn genetic diseases [RCV002374810]|not provided [RCV001091623]|not specified [RCV003317226] Chr11:62690795 [GRCh38]
Chr11:62458267 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.311T>A (p.Leu104His) 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_001122955.4(BSCL2):c.923C>T (p.Thr308Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000472825]|not provided [RCV003480644] Chr11:62691362 [GRCh38]
Chr11:62458834 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.942dup (p.Leu315fs) duplication Congenital generalized lipodystrophy type 2 [RCV000503732] Chr11:62691342..62691343 [GRCh38]
Chr11:62458814..62458815 [GRCh37]
Chr11:11q12.3
pathogenic
NM_001122955.4(BSCL2):c.62A>T (p.Gln21Leu) single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV002489212]|not provided [RCV000493815] Chr11:62707134 [GRCh38]
Chr11:62474606 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.680TCT[1] (p.Phe228del) 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_001122955.4(BSCL2):c.992G>A (p.Arg331His) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000698889]|Inborn genetic diseases [RCV002422548] Chr11:62691293 [GRCh38]
Chr11:62458765 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_001122955.4(BSCL2):c.1069C>T (p.Pro357Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000532138]|Congenital generalized lipodystrophy type 2 [RCV002491102]|Inborn genetic diseases [RCV002377175]|not provided [RCV003313104] Chr11:62691078 [GRCh38]
Chr11:62458550 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.844G>A (p.Ala282Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000554606]|Congenital generalized lipodystrophy type 2 [RCV003147507]|Hereditary spastic paraplegia [RCV001848974]|Inborn genetic diseases [RCV002367959]|not provided [RCV000994647]|not specified [RCV001821649] Chr11:62692395 [GRCh38]
Chr11:62459867 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.299G>A (p.Cys100Tyr) single nucleotide variant Berardinelli-Seip congenital lipodystrophy [RCV003312922] Chr11:62705406 [GRCh38]
Chr11:62472878 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.249C>T (p.Val83=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000541985]|Inborn genetic diseases [RCV002358613] Chr11:62705456 [GRCh38]
Chr11:62472928 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.506C>T (p.Pro169Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000536090] Chr11:62694692 [GRCh38]
Chr11:62462164 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.166G>A (p.Gly56Arg) single nucleotide variant not specified [RCV000615213] Chr11:62705539 [GRCh38]
Chr11:62473011 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp) single nucleotide variant Berardinelli-Seip congenital lipodystrophy [RCV003311850]|Charcot-Marie-Tooth disease [RCV000789082]|Charcot-Marie-Tooth disease type 2 [RCV000536990]|Hereditary spastic paraplegia 17 [RCV002284966]|Neuronopathy, distal hereditary motor, type 5C [RCV001270682] Chr11:62702493 [GRCh38]
Chr11:62469965 [GRCh37]
Chr11:11q12.3
pathogenic|likely pathogenic|uncertain significance|not provided
NM_001122955.4(BSCL2):c.306C>T (p.Ile102=) single nucleotide variant Inborn genetic diseases [RCV002456363]|not specified [RCV000612540] Chr11:62705399 [GRCh38]
Chr11:62472871 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.358_376del (p.Tyr120fs) deletion Berardinelli-Seip congenital lipodystrophy [RCV003312923] Chr11:62705329..62705347 [GRCh38]
Chr11:62472801..62472819 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.529G>T (p.Glu177Ter) single nucleotide variant Berardinelli-Seip congenital lipodystrophy [RCV003312926] Chr11:62694669 [GRCh38]
Chr11:62462141 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.752A>G (p.Tyr251Cys) single nucleotide variant Berardinelli-Seip congenital lipodystrophy [RCV003312930] Chr11:62692676 [GRCh38]
Chr11:62460148 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1276A>G (p.Asn426Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000653841] Chr11:62690480 [GRCh38]
Chr11:62457952 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.405-7C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000653959] Chr11:62702556 [GRCh38]
Chr11:62470028 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.486+7A>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000653957] Chr11:62702461 [GRCh38]
Chr11:62469933 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1072+7dup duplication Charcot-Marie-Tooth disease type 2 [RCV000654020] Chr11:62691067..62691068 [GRCh38]
Chr11:62458539..62458540 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1101G>A (p.Pro367=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000654025]|Inborn genetic diseases [RCV002369759]|Severe neurodegenerative syndrome with lipodystrophy [RCV001331509] Chr11:62690839 [GRCh38]
Chr11:62458311 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
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_001122955.4(BSCL2):c.408C>T (p.Thr136=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000654004]|Inborn genetic diseases [RCV002422419] Chr11:62702546 [GRCh38]
Chr11:62470018 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1254T>C (p.Asp418=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001483316]|Inborn genetic diseases [RCV002406476] 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_001122955.4(BSCL2):c.88-588T>C single nucleotide variant not specified [RCV000608661] Chr11:62706205 [GRCh38]
Chr11:62473677 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.810C>T (p.Arg270=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002531626]|Congenital generalized lipodystrophy type 2 [RCV001104263]|Inborn genetic diseases [RCV002358728]|Neuronopathy, distal hereditary motor, type 5A [RCV001104262]|not specified [RCV000611592] Chr11:62692429 [GRCh38]
Chr11:62459901 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_001122955.4(BSCL2):c.1234+19C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002531516]|not specified [RCV000614516] Chr11:62690593 [GRCh38]
Chr11:62458065 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1108_1109del (p.Asp370fs) deletion Charcot-Marie-Tooth disease type 2 [RCV000544751] Chr11:62690831..62690832 [GRCh38]
Chr11:62458303..62458304 [GRCh37]
Chr11:11q12.3
pathogenic
NM_001122955.4(BSCL2):c.866A>G (p.Tyr289Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000699480] Chr11:62691419 [GRCh38]
Chr11:62458891 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000687331]|Congenital generalized lipodystrophy type 2 [RCV002493153] Chr11:62692466 [GRCh38]
Chr11:62459938 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1298C>T (p.Ala433Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000686002]|Congenital generalized lipodystrophy type 2 [RCV000763757]|Hereditary spastic paraplegia [RCV001849047] Chr11:62690458 [GRCh38]
Chr11:62457930 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000688210]|Congenital generalized lipodystrophy type 2 [RCV001106916]|Congenital generalized lipodystrophy type 2 [RCV002493159]|Inborn genetic diseases [RCV003343990]|Neuronopathy, distal hereditary motor, type 5A [RCV001106915] Chr11:62690644 [GRCh38]
Chr11:62458116 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1038G>T (p.Lys346Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000691320] Chr11:62691109 [GRCh38]
Chr11:62458581 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000690113]|Congenital generalized lipodystrophy type 2 [RCV002485632]|Inborn genetic diseases [RCV002397389] Chr11:62705346 [GRCh38]
Chr11:62472818 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_001122955.4(BSCL2):c.1120G>T (p.Asp374Tyr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000699605] Chr11:62690820 [GRCh38]
Chr11:62458292 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.679G>T (p.Val227Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000705740] Chr11:62692749 [GRCh38]
Chr11:62460221 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.632T>C (p.Val211Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000697169]|Inborn genetic diseases [RCV002332464] Chr11:62692796 [GRCh38]
Chr11:62460268 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.630G>A (p.Ser210=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000818318]|Congenital generalized lipodystrophy type 2 [RCV002487813] 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_001122955.4(BSCL2):c.507G>T (p.Pro169=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001417981] Chr11:62694691 [GRCh38]
Chr11:62462163 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.776C>T (p.Thr259Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001304484]|Congenital generalized lipodystrophy type 2 [RCV000761420] Chr11:62692463 [GRCh38]
Chr11:62459935 [GRCh37]
Chr11:11q12.3
pathogenic|uncertain significance
NM_001122955.4(BSCL2):c.1235-2A>C single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000761421] Chr11:62690523 [GRCh38]
Chr11:62457995 [GRCh37]
Chr11:11q12.3
likely pathogenic
NM_001122955.4(BSCL2):c.132T>A (p.Gly44=) single nucleotide variant not provided [RCV000761776] Chr11:62705573 [GRCh38]
Chr11:62473045 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.404+1G>T single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000754916] Chr11:62705300 [GRCh38]
Chr11:62472772 [GRCh37]
Chr11:11q12.3
pathogenic
NM_001122955.4(BSCL2):c.737_738insCCG (p.Glu246delinsAspArg) insertion Congenital generalized lipodystrophy type 2 [RCV000754918] Chr11:62692690..62692691 [GRCh38]
Chr11:62460162..62460163 [GRCh37]
Chr11:11q12.3
likely pathogenic
NM_001122955.4(BSCL2):c.402C>G (p.Tyr134Ter) single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV000754919] Chr11:62705303 [GRCh38]
Chr11:62472775 [GRCh37]
Chr11:11q12.3
pathogenic
NM_001122955.4(BSCL2):c.631-6C>A single nucleotide variant not provided [RCV000993056] Chr11:62692803 [GRCh38]
Chr11:62460275 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.39G>A (p.Gly13=) single nucleotide variant not provided [RCV003456776] Chr11:62707157 [GRCh38]
Chr11:62474629 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1102C>A (p.Gln368Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000983962]|not provided [RCV001559073] Chr11:62690838 [GRCh38]
Chr11:62458310 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_001122955.4(BSCL2):c.486+8T>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000867569]|not specified [RCV001664504] Chr11:62702460 [GRCh38]
Chr11:62469932 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.404+10G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000868390] Chr11:62705291 [GRCh38]
Chr11:62472763 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.532C>G (p.Leu178Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002064614]|not provided [RCV003328472] Chr11:62694666 [GRCh38]
Chr11:62462138 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_001122955.4(BSCL2):c.297C>T (p.Phe99=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001477644] Chr11:62705408 [GRCh38]
Chr11:62472880 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.546T>C (p.Pro182=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001432311] Chr11:62694652 [GRCh38]
Chr11:62462124 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.906T>G (p.Gly302=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001474521] Chr11:62691379 [GRCh38]
Chr11:62458851 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.624G>A (p.Ser208=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000864966]|Congenital generalized lipodystrophy type 2 [RCV002478964] Chr11:62694574 [GRCh38]
Chr11:62462046 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.345C>T (p.Ser115=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000865472] Chr11:62705360 [GRCh38]
Chr11:62472832 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.843C>T (p.His281=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000868858] Chr11:62692396 [GRCh38]
Chr11:62459868 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.257G>A (p.Gly86Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001062121]|Congenital generalized lipodystrophy type 2 [RCV002489675] Chr11:62705448 [GRCh38]
Chr11:62472920 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1033C>T (p.Arg345Trp) single nucleotide variant BSCL2-related condition [RCV003918652]|Charcot-Marie-Tooth disease type 2 [RCV001043106]|Neuronopathy, distal hereditary motor, type 5C [RCV002221260] Chr11:62691114 [GRCh38]
Chr11:62458586 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.270G>T (p.Arg90Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001061580]|Inborn genetic diseases [RCV002418520] Chr11:62705435 [GRCh38]
Chr11:62472907 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.336C>G (p.Leu112=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001041932] Chr11:62705369 [GRCh38]
Chr11:62472841 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_001122955.4(BSCL2):c.1096A>G (p.Thr366Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001048120] Chr11:62690844 [GRCh38]
Chr11:62458316 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.209C>T (p.Pro70Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001060434] Chr11:62705496 [GRCh38]
Chr11:62472968 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del) microsatellite Charcot-Marie-Tooth disease type 2 [RCV000862805]|Congenital generalized lipodystrophy type 2 [RCV002468078]|Inborn genetic diseases [RCV002345950]|Monogenic diabetes [RCV001174399]|not provided [RCV003442125] Chr11:62690634..62690636 [GRCh38]
Chr11:62458106..62458108 [GRCh37]
Chr11:11q12.3
likely benign|uncertain risk allele|uncertain significance
NM_001122955.4(BSCL2):c.1374C>T (p.Thr458=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001505022] Chr11:62690382 [GRCh38]
Chr11:62457854 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.612C>T (p.Ile204=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001427915] Chr11:62694586 [GRCh38]
Chr11:62462058 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.585C>G (p.Ser195=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001431803] Chr11:62694613 [GRCh38]
Chr11:62462085 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.631-6C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000861941]|Inborn genetic diseases [RCV002332764] Chr11:62692803 [GRCh38]
Chr11:62460275 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1320A>G (p.Leu440=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001409173] Chr11:62690436 [GRCh38]
Chr11:62457908 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.753T>C (p.Tyr251=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000891829] Chr11:62692675 [GRCh38]
Chr11:62460147 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.479G>A (p.Arg160His) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003097685]|Hereditary spastic paraplegia 17 [RCV002285004] Chr11:62702475 [GRCh38]
Chr11:62469947 [GRCh37]
Chr11:11q12.3
uncertain significance|not provided
NM_001122955.4(BSCL2):c.464T>C (p.Leu155Pro) single nucleotide variant Berardinelli-Seip congenital lipodystrophy [RCV003312925] Chr11:62702490 [GRCh38]
Chr11:62469962 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.631-2A>C single nucleotide variant Berardinelli-Seip congenital lipodystrophy [RCV003312929] Chr11:62692799 [GRCh38]
Chr11:62460271 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.876C>G (p.Tyr292Ter) single nucleotide variant Berardinelli-Seip congenital lipodystrophy [RCV003312931] Chr11:62691409 [GRCh38]
Chr11:62458881 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.765+69A>G single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV001553984]|Hereditary spastic paraplegia 17 [RCV001553986]|Neuronopathy, distal hereditary motor, type 5C [RCV001553985]|Severe neurodegenerative syndrome with lipodystrophy [RCV001553983]|not provided [RCV000837727] Chr11:62692594 [GRCh38]
Chr11:62460066 [GRCh37]
Chr11:11q12.3
benign
NM_001122955.4(BSCL2):c.487-129G>T single nucleotide variant not provided [RCV000837809] Chr11:62694840 [GRCh38]
Chr11:62462312 [GRCh37]
Chr11:11q12.3
benign
NM_001122955.4(BSCL2):c.1299TTCTGC[3] (p.434SA[3]) microsatellite Charcot-Marie-Tooth disease type 2 [RCV000800835]|Congenital generalized lipodystrophy type 2 [RCV002495067]|not provided [RCV001772066] Chr11:62690445..62690446 [GRCh38]
Chr11:62457917..62457918 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1034G>T (p.Arg345Leu) 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_001122955.4(BSCL2):c.478C>A (p.Arg160Ser) single nucleotide variant Berardinelli-Seip congenital lipodystrophy [RCV003311890]|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_001122955.4(BSCL2):c.487-34A>T single nucleotide variant not provided [RCV000833494] Chr11:62694745 [GRCh38]
Chr11:62462217 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.486+123G>A single nucleotide variant not provided [RCV000836808] Chr11:62702345 [GRCh38]
Chr11:62469817 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.766-79G>T single nucleotide variant not provided [RCV000837132] Chr11:62692552 [GRCh38]
Chr11:62460024 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1244C>T (p.Ser415Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000817177]|Congenital generalized lipodystrophy type 2 [RCV002487805] Chr11:62690512 [GRCh38]
Chr11:62457984 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1234+6G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000821986] Chr11:62690606 [GRCh38]
Chr11:62458078 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1160A>G (p.Gln387Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000823295]|Congenital generalized lipodystrophy type 2 [RCV002487853] Chr11:62690686 [GRCh38]
Chr11:62458158 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.486+182C>T single nucleotide variant not provided [RCV000836867] Chr11:62702286 [GRCh38]
Chr11:62469758 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.666G>C (p.Met222Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001337734]|Inborn genetic diseases [RCV002327221]|not provided [RCV000994648] Chr11:62692762 [GRCh38]
Chr11:62460234 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.266G>C (p.Arg89Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000803805] Chr11:62705439 [GRCh38]
Chr11:62472911 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.404G>C (p.Arg135Thr) single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV002250727]|not provided [RCV001091625] Chr11:62705301 [GRCh38]
Chr11:62472773 [GRCh37]
Chr11:11q12.3
pathogenic|uncertain significance
NM_001122955.4(BSCL2):c.846G>A (p.Ala282=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000864157]|Hereditary spastic paraplegia [RCV001847050] Chr11:62692393 [GRCh38]
Chr11:62459865 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_001122955.4(BSCL2):c.1141C>A (p.Pro381Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000796804] Chr11:62690799 [GRCh38]
Chr11:62458271 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.460T>G (p.Ser154Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000797348] Chr11:62702494 [GRCh38]
Chr11:62469966 [GRCh37]
Chr11:11q12.3
likely pathogenic|uncertain significance
NM_001122955.4(BSCL2):c.344C>T (p.Ser115Phe) 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_001122955.4(BSCL2):c.466A>G (p.Thr156Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001228343]|Inborn genetic diseases [RCV002436884]|not provided [RCV001310601] Chr11:62702488 [GRCh38]
Chr11:62469960 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_001122955.4(BSCL2):c.1282CCTGCT[4] (p.428PA[4]) microsatellite Charcot-Marie-Tooth disease type 2 [RCV001213787]|Inborn genetic diseases [RCV002429907]|not provided [RCV003319452] Chr11:62690456..62690457 [GRCh38]
Chr11:62457928..62457929 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.835C>T (p.Arg279Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001224190]|not provided [RCV002261311] Chr11:62692404 [GRCh38]
Chr11:62459876 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1004A>C (p.Gln335Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001224191]|Inborn genetic diseases [RCV002418777] Chr11:62691281 [GRCh38]
Chr11:62458753 [GRCh37]
Chr11:11q12.3
likely pathogenic|uncertain significance
NM_001122955.4(BSCL2):c.1300T>G (p.Ser434Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001223580]|Congenital generalized lipodystrophy type 2 [RCV002480738]|not provided [RCV003482346] Chr11:62690456 [GRCh38]
Chr11:62457928 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1126G>T (p.Glu376Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001240096] Chr11:62690814 [GRCh38]
Chr11:62458286 [GRCh37]
Chr11:11q12.3
pathogenic
NM_001122955.4(BSCL2):c.1361_1386del (p.Arg454fs) deletion Charcot-Marie-Tooth disease type 2 [RCV001218067] Chr11:62690370..62690395 [GRCh38]
Chr11:62457842..62457867 [GRCh37]
Chr11:11q12.3
pathogenic
NM_001122955.4(BSCL2):c.1154-1del deletion Charcot-Marie-Tooth disease type 2 [RCV001232406] Chr11:62690693 [GRCh38]
Chr11:62458165 [GRCh37]
Chr11:11q12.3
likely pathogenic
NM_001122955.4(BSCL2):c.765G>T (p.Ser255=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001210702] Chr11:62692663 [GRCh38]
Chr11:62460135 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.419C>G (p.Ser140Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001869376]|not provided [RCV000993054] Chr11:62702535 [GRCh38]
Chr11:62470007 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1369C>T (p.Pro457Ser) single nucleotide variant not provided [RCV000994646] Chr11:62690387 [GRCh38]
Chr11:62457859 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1116del (p.Glu373fs) deletion See cases [RCV003232938] Chr11:62690824 [GRCh38]
Chr11:62458296 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.907G>A (p.Val303Ile) single nucleotide variant not provided [RCV001546385] Chr11:62691378 [GRCh38]
Chr11:62458850 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.764C>T (p.Ser255Leu) single nucleotide variant Inborn genetic diseases [RCV003240265] Chr11:62692664 [GRCh38]
Chr11:62460136 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1153+26C>T single nucleotide variant BSCL2-related condition [RCV003941073]|not provided [RCV001686736] Chr11:62690761 [GRCh38]
Chr11:62458233 [GRCh37]
Chr11:11q12.3
benign
NM_001122955.4(BSCL2):c.404+207A>T single nucleotide variant not provided [RCV001576574] Chr11:62705094 [GRCh38]
Chr11:62472566 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.87+64_87+66del deletion not provided [RCV001717491] Chr11:62707043..62707045 [GRCh38]
Chr11:62474515..62474517 [GRCh37]
Chr11:11q12.3
benign
NM_001122955.4(BSCL2):c.405-205_405-202del microsatellite not provided [RCV001557005] Chr11:62702751..62702754 [GRCh38]
Chr11:62470223..62470226 [GRCh37]
Chr11:11q12.3
likely benign
NM_012202.5(GNG3):c.-136G>C single nucleotide variant not provided [RCV001652556] Chr11:62707781 [GRCh38]
Chr11:62475253 [GRCh37]
Chr11:11q12.3
benign
NM_001122955.4(BSCL2):c.348C>T (p.Phe116=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001429270] Chr11:62705357 [GRCh38]
Chr11:62472829 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.631-9C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000938503] Chr11:62692806 [GRCh38]
Chr11:62460278 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1047A>G (p.Gln349=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000866876] Chr11:62691100 [GRCh38]
Chr11:62458572 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1153+8G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000892251] Chr11:62690779 [GRCh38]
Chr11:62458251 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.774G>A (p.Pro258=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002064702] 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_001122955.4(BSCL2):c.792T>C (p.Ile264=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000980683] Chr11:62692447 [GRCh38]
Chr11:62459919 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1212G>A (p.Glu404=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000983348] Chr11:62690634 [GRCh38]
Chr11:62458106 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1373C>T (p.Thr458Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001207301] Chr11:62690383 [GRCh38]
Chr11:62457855 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1376G>A (p.Cys459Tyr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001036263] Chr11:62690380 [GRCh38]
Chr11:62457852 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.947T>G (p.Phe316Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001208960] Chr11:62691338 [GRCh38]
Chr11:62458810 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1071A>G (p.Pro357=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001209095]|Congenital generalized lipodystrophy type 2 [RCV002484131]|Inborn genetic diseases [RCV002447070] Chr11:62691076 [GRCh38]
Chr11:62458548 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.974del (p.Gly325fs) deletion Severe neurodegenerative syndrome with lipodystrophy [RCV001196242] Chr11:62691311 [GRCh38]
Chr11:62458783 [GRCh37]
Chr11:11q12.3
likely pathogenic
NM_001122955.4(BSCL2):c.849C>G (p.His283Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001224970] Chr11:62692390 [GRCh38]
Chr11:62459862 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.422C>T (p.Ser141Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001858766]|not provided [RCV000993055] Chr11:62702532 [GRCh38]
Chr11:62470004 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_012202.5(GNG3):c.-197G>A single nucleotide variant not provided [RCV001562878] Chr11:62707720 [GRCh38]
Chr11:62475192 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.487-255C>T single nucleotide variant not provided [RCV001676101] Chr11:62694966 [GRCh38]
Chr11:62462438 [GRCh37]
Chr11:11q12.3
benign
NM_001122955.4(BSCL2):c.630+64G>T single nucleotide variant not provided [RCV001576552] Chr11:62694504 [GRCh38]
Chr11:62461976 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.618TTC[1] (p.Ser208del) microsatellite not provided [RCV002469759] Chr11:62694575..62694577 [GRCh38]
Chr11:62462047..62462049 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.425C>T (p.Thr142Ile) single nucleotide variant not provided [RCV001531736] Chr11:62702529 [GRCh38]
Chr11:62470001 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.-172T>C single nucleotide variant not provided [RCV001671555] Chr11:62707367 [GRCh38]
Chr11:62474839 [GRCh37]
Chr11:11q12.3
benign
NM_001122955.4(BSCL2):c.88-459G>A single nucleotide variant not provided [RCV001672143] Chr11:62706076 [GRCh38]
Chr11:62473548 [GRCh37]
Chr11:11q12.3
benign
NM_001122955.4(BSCL2):c.1234+20G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002073003]|Congenital generalized lipodystrophy type 2 [RCV002501990]|not provided [RCV001656292] Chr11:62690592 [GRCh38]
Chr11:62458064 [GRCh37]
Chr11:11q12.3
benign|likely benign
NM_001122955.4(BSCL2):c.404+207dup duplication not provided [RCV001598261] Chr11:62705075..62705076 [GRCh38]
Chr11:62472547..62472548 [GRCh37]
Chr11:11q12.3
benign
NM_001122955.4(BSCL2):c.986G>A (p.Arg329Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001856438]|Congenital generalized lipodystrophy type 2 [RCV001107586]|Congenital generalized lipodystrophy type 2 [RCV002480477]|Neuronopathy, distal hereditary motor, type 5A [RCV001107587] Chr11:62691299 [GRCh38]
Chr11:62458771 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1200C>T (p.Ser400=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002069757]|Congenital generalized lipodystrophy type 2 [RCV001106919]|Neuronopathy, distal hereditary motor, type 5A [RCV001106920] Chr11:62690646 [GRCh38]
Chr11:62458118 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_001122955.4(BSCL2):c.991C>T (p.Arg331Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001327834]|Congenital generalized lipodystrophy type 2 [RCV001107585]|Neuronopathy, distal hereditary motor, type 5A [RCV001107584] Chr11:62691294 [GRCh38]
Chr11:62458766 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1313C>T (p.Pro438Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001206636] Chr11:62690443 [GRCh38]
Chr11:62457915 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.859C>T (p.Leu287Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001053294] Chr11:62692380 [GRCh38]
Chr11:62459852 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.214C>G (p.Pro72Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001216682] Chr11:62705491 [GRCh38]
Chr11:62472963 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.809G>A (p.Arg270His) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001054049]|Inborn genetic diseases [RCV002553768]|not provided [RCV001815495] Chr11:62692430 [GRCh38]
Chr11:62459902 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.*58G>A single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV001103860]|Neuronopathy, distal hereditary motor, type 5A [RCV001103859] Chr11:62690309 [GRCh38]
Chr11:62457781 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.969G>T (p.Trp323Cys) single nucleotide variant Monogenic diabetes [RCV001174401] Chr11:62691316 [GRCh38]
Chr11:62458788 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.388G>T (p.Val130Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001215816] Chr11:62705317 [GRCh38]
Chr11:62472789 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1005+3C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001217371] Chr11:62691277 [GRCh38]
Chr11:62458749 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.514G>T (p.Val172Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001218442] Chr11:62694684 [GRCh38]
Chr11:62462156 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1097C>G (p.Thr366Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001064393]|Congenital generalized lipodystrophy type 2 [RCV002489685] Chr11:62690843 [GRCh38]
Chr11:62458315 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.940G>A (p.Val314Met) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001055720] Chr11:62691345 [GRCh38]
Chr11:62458817 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.486+1G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001047252]|not provided [RCV001784598] Chr11:62702467 [GRCh38]
Chr11:62469939 [GRCh37]
Chr11:11q12.3
pathogenic|likely pathogenic
NM_001122955.4(BSCL2):c.630+5G>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001202806] Chr11:62694563 [GRCh38]
Chr11:62462035 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.955A>G (p.Met319Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001056959] Chr11:62691330 [GRCh38]
Chr11:62458802 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1022G>A (p.Arg341Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001324676]|Congenital generalized lipodystrophy type 2 [RCV002493694]|Hereditary spastic paraplegia [RCV001847239] Chr11:62691125 [GRCh38]
Chr11:62458597 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.742T>C (p.Tyr248His) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001349573] Chr11:62692686 [GRCh38]
Chr11:62460158 [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
NM_001122955.4(BSCL2):c.54C>A (p.Cys18Ter) single nucleotide variant not provided [RCV002280038] Chr11:62707142 [GRCh38]
Chr11:62474614 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1234+1G>A single nucleotide variant Encephalopathy, progressive, with or without lipodystrophy [RCV001335242] Chr11:62690611 [GRCh38]
Chr11:62458083 [GRCh37]
Chr11:11q12.3
pathogenic
NM_001122955.4(BSCL2):c.1026C>G (p.Asp342Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001318866] Chr11:62691121 [GRCh38]
Chr11:62458593 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1360C>T (p.Arg454Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001388949]|Severe neurodegenerative syndrome with lipodystrophy [RCV001335244] Chr11:62690396 [GRCh38]
Chr11:62457868 [GRCh37]
Chr11:11q12.3
pathogenic|uncertain significance
NM_001122955.4(BSCL2):c.512G>A (p.Arg171His) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001313512] Chr11:62694686 [GRCh38]
Chr11:62462158 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.234G>A (p.Gln78=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001350177] Chr11:62705471 [GRCh38]
Chr11:62472943 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.264C>A (p.Ala88=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001396989] Chr11:62705441 [GRCh38]
Chr11:62472913 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1268C>T (p.Thr423Met) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001359636] Chr11:62690488 [GRCh38]
Chr11:62457960 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.361A>G (p.Met121Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001362683] Chr11:62705344 [GRCh38]
Chr11:62472816 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_012202.5(GNG3):c.-2+62C>T single nucleotide variant not provided [RCV001643270] Chr11:62707977 [GRCh38]
Chr11:62475449 [GRCh37]
Chr11:11q12.3
benign
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NM_001122955.4(BSCL2):c.785C>T (p.Ala262Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001323310]|Inborn genetic diseases [RCV002545122] Chr11:62692454 [GRCh38]
Chr11:62459926 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_001122955.4(BSCL2):c.631-7C>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001319443] Chr11:62692804 [GRCh38]
Chr11:62460276 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1106C>T (p.Ser369Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001364365] Chr11:62690834 [GRCh38]
Chr11:62458306 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.367A>T (p.Thr123Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002547336]|Congenital generalized lipodystrophy type 2 [RCV002504525]|Congenital generalized lipodystrophy type 2 [RCV003333154]|Severe neurodegenerative syndrome with lipodystrophy [RCV001335245] Chr11:62705338 [GRCh38]
Chr11:62472810 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1251A>G (p.Glu417=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001396168] Chr11:62690505 [GRCh38]
Chr11:62457977 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1016G>A (p.Arg339Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001324801] Chr11:62691131 [GRCh38]
Chr11:62458603 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1352G>C (p.Gly451Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001295386] Chr11:62690404 [GRCh38]
Chr11:62457876 [GRCh37]
Chr11:11q12.3
uncertain significance
NC_000011.9:g.(?_59596957)_(68707199_?)dup duplication Familial temporal lobe epilepsy 8 [RCV001372442] Chr11:59596957..68707199 [GRCh37]
Chr11:11q12.1-13.3
uncertain significance
NM_001122955.4(BSCL2):c.629C>T (p.Ser210Leu) single nucleotide variant Hereditary spastic paraplegia 17 [RCV001331508] Chr11:62694569 [GRCh38]
Chr11:62462041 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1120G>C (p.Asp374His) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001327914]|Hereditary spastic paraplegia [RCV001847241] Chr11:62690820 [GRCh38]
Chr11:62458292 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.678G>A (p.Leu226=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001486882] Chr11:62692750 [GRCh38]
Chr11:62460222 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.984C>T (p.Pro328=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001502329]|not provided [RCV003222329] Chr11:62691301 [GRCh38]
Chr11:62458773 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.501A>G (p.Gly167=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001475302] Chr11:62694697 [GRCh38]
Chr11:62462169 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1113del (p.Thr372fs) deletion Charcot-Marie-Tooth disease type 2 [RCV001390710] Chr11:62690827 [GRCh38]
Chr11:62458299 [GRCh37]
Chr11:11q12.3
pathogenic
NM_001122955.4(BSCL2):c.1153+7C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001491815] Chr11:62690780 [GRCh38]
Chr11:62458252 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.960G>A (p.Gln320=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001501908] Chr11:62691325 [GRCh38]
Chr11:62458797 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1006-4A>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001461357] Chr11:62691145 [GRCh38]
Chr11:62458617 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1311C>T (p.Ala437=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001446092] Chr11:62690445 [GRCh38]
Chr11:62457917 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.864-8T>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001427775] Chr11:62691429 [GRCh38]
Chr11:62458901 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.645C>T (p.Tyr215=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001412129] Chr11:62692783 [GRCh38]
Chr11:62460255 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.480T>C (p.Arg160=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001432668] Chr11:62702474 [GRCh38]
Chr11:62469946 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1006-1G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001379197] Chr11:62691142 [GRCh38]
Chr11:62458614 [GRCh37]
Chr11:11q12.3
likely pathogenic
NM_001122955.4(BSCL2):c.1235-6G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001448290]|Congenital generalized lipodystrophy type 2 [RCV002495633] Chr11:62690527 [GRCh38]
Chr11:62457999 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.675A>T (p.Thr225=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001427573] Chr11:62692753 [GRCh38]
Chr11:62460225 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.273G>A (p.Leu91=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001501657] Chr11:62705432 [GRCh38]
Chr11:62472904 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.404+225del deletion not provided [RCV001665386] Chr11:62705076 [GRCh38]
Chr11:62472548 [GRCh37]
Chr11:11q12.3
benign
NM_001122955.4(BSCL2):c.333C>T (p.Phe111=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001460813] Chr11:62705372 [GRCh38]
Chr11:62472844 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.88-142C>G single nucleotide variant not provided [RCV001583439] Chr11:62705759 [GRCh38]
Chr11:62473231 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.768C>T (p.Tyr256=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001417194] Chr11:62692471 [GRCh38]
Chr11:62459943 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1143C>G (p.Pro381=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001490323] Chr11:62690797 [GRCh38]
Chr11:62458269 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.462G>A (p.Ser154=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001485097] Chr11:62702492 [GRCh38]
Chr11:62469964 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.631-10C>G single nucleotide variant not provided [RCV001776683] Chr11:62692807 [GRCh38]
Chr11:62460279 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1385C>A (p.Ser462Tyr) single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV002482294]|not provided [RCV001776687] Chr11:62690371 [GRCh38]
Chr11:62457843 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.862dup (p.Arg288fs) duplication Congenital generalized lipodystrophy type 2 [RCV002250829] Chr11:62692376..62692377 [GRCh38]
Chr11:62459848..62459849 [GRCh37]
Chr11:11q12.3
likely pathogenic
NM_001122955.4(BSCL2):c.289G>A (p.Val97Met) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003101375]|Inborn genetic diseases [RCV003164357]|See cases [RCV002252845] Chr11:62705416 [GRCh38]
Chr11:62472888 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1179A>T (p.Lys393Asn) single nucleotide variant not provided [RCV001799893] Chr11:62690667 [GRCh38]
Chr11:62458139 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_012202.5(GNG3):c.-1-110G>A single nucleotide variant not provided [RCV001779635] Chr11:62708185 [GRCh38]
Chr11:62475657 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.88-444G>C single nucleotide variant not provided [RCV001776993] Chr11:62706061 [GRCh38]
Chr11:62473533 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.3(BSCL2):c.-291G>A single nucleotide variant Breast carcinoma [RCV001777125]|Reduced delayed hypersensitivity [RCV001775209]|Symphalangism affecting the proximal phalanx of the 4th finger [RCV001775210] Chr11:62707486 [GRCh38]
Chr11:62474958 [GRCh37]
Chr11:11q12.3
pathogenic
NM_001122955.4(BSCL2):c.1264C>G (p.Leu422Val) single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV002488613]|not provided [RCV001757538] Chr11:62690492 [GRCh38]
Chr11:62457964 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.325T>C (p.Ser109Pro) single nucleotide variant not provided [RCV001776449] Chr11:62705380 [GRCh38]
Chr11:62472852 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.973G>A (p.Gly325Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001868669]|not provided [RCV001755461] Chr11:62691312 [GRCh38]
Chr11:62458784 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.242G>A (p.Gly81Asp) single nucleotide variant not provided [RCV001755579] Chr11:62705463 [GRCh38]
Chr11:62472935 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1085A>T (p.Gln362Leu) single nucleotide variant not specified [RCV001822550] Chr11:62690855 [GRCh38]
Chr11:62458327 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1168GAG[2] (p.Glu392del) microsatellite Charcot-Marie-Tooth disease type 2 [RCV001889054]|Neuronopathy, distal hereditary motor, type 5C [RCV003448428] Chr11:62690670..62690672 [GRCh38]
Chr11:62458142..62458144 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.853A>G (p.Thr285Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001875032] Chr11:62692386 [GRCh38]
Chr11:62459858 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1300T>C (p.Ser434Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001928182] Chr11:62690456 [GRCh38]
Chr11:62457928 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1277A>G (p.Asn426Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001970899] Chr11:62690479 [GRCh38]
Chr11:62457951 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.812T>A (p.Ile271Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001914690] Chr11:62692427 [GRCh38]
Chr11:62459899 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.610A>G (p.Ile204Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002045562] Chr11:62694588 [GRCh38]
Chr11:62462060 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.631-8C>T single nucleotide variant Hereditary spastic paraplegia [RCV001848346] Chr11:62692805 [GRCh38]
Chr11:62460277 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.281A>T (p.Gln94Leu) single nucleotide variant Hereditary spastic paraplegia [RCV001848348] Chr11:62705424 [GRCh38]
Chr11:62472896 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.385_386insGA (p.Pro129fs) insertion Charcot-Marie-Tooth disease type 2 [RCV002007315] Chr11:62705319..62705320 [GRCh38]
Chr11:62472791..62472792 [GRCh37]
Chr11:11q12.3
pathogenic
NM_001122955.4(BSCL2):c.359A>T (p.Tyr120Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002034752]|Hereditary spastic paraplegia [RCV001848344]|Inborn genetic diseases [RCV002397766] Chr11:62705346 [GRCh38]
Chr11:62472818 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1048C>G (p.Arg350Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001871176] Chr11:62691099 [GRCh38]
Chr11:62458571 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.630G>C (p.Ser210=) single nucleotide variant BSCL2-related condition [RCV003968601]|Charcot-Marie-Tooth disease type 2 [RCV001872434] Chr11:62694568 [GRCh38]
Chr11:62462040 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_001122955.4(BSCL2):c.568_569insCA (p.Phe190fs) insertion Charcot-Marie-Tooth disease type 2 [RCV001970095] Chr11:62694629..62694630 [GRCh38]
Chr11:62462101..62462102 [GRCh37]
Chr11:11q12.3
pathogenic
NM_001122955.4(BSCL2):c.389T>C (p.Val130Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001891203] Chr11:62705316 [GRCh38]
Chr11:62472788 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.620C>G (p.Ser207Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002006535]|Inborn genetic diseases [RCV002579682] Chr11:62694578 [GRCh38]
Chr11:62462050 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.973G>T (p.Gly325Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001948446] Chr11:62691312 [GRCh38]
Chr11:62458784 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.507G>A (p.Pro169=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002545269]|Hereditary spastic paraplegia [RCV001848345] Chr11:62694691 [GRCh38]
Chr11:62462163 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1361G>A (p.Arg454Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001969944] Chr11:62690395 [GRCh38]
Chr11:62457867 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.485G>A (p.Arg162Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001948926]|not specified [RCV003120762] Chr11:62702469 [GRCh38]
Chr11:62469941 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.266G>T (p.Arg89Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001872342] Chr11:62705439 [GRCh38]
Chr11:62472911 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.443T>C (p.Phe148Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001909353]|Congenital generalized lipodystrophy type 2 [RCV002503564] Chr11:62702511 [GRCh38]
Chr11:62469983 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1281_1286dup (p.428PA[4]) duplication Charcot-Marie-Tooth disease type 2 [RCV001987141] Chr11:62690469..62690470 [GRCh38]
Chr11:62457941..62457942 [GRCh37]
Chr11:11q12.3
uncertain significance
NC_000011.9:g.(?_62457839)_(62462203_?)dup duplication Charcot-Marie-Tooth disease type 2 [RCV002004640] Chr11:62457839..62462203 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1028A>G (p.Asn343Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002543391]|Hereditary spastic paraplegia [RCV001848347] Chr11:62691119 [GRCh38]
Chr11:62458591 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1075C>T (p.Pro359Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001983215] Chr11:62690865 [GRCh38]
Chr11:62458337 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.368C>T (p.Thr123Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001887090] Chr11:62705337 [GRCh38]
Chr11:62472809 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.808C>T (p.Arg270Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002027229] Chr11:62692431 [GRCh38]
Chr11:62459903 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.452C>G (p.Ala151Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001919444] Chr11:62702502 [GRCh38]
Chr11:62469974 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.902T>C (p.Ile301Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001990290] Chr11:62691383 [GRCh38]
Chr11:62458855 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.405-11A>G single nucleotide variant Berardinelli-Seip congenital lipodystrophy [RCV003312023]|Charcot-Marie-Tooth disease type 2 [RCV001952313]|not provided [RCV003314709] Chr11:62702560 [GRCh38]
Chr11:62470032 [GRCh37]
Chr11:11q12.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001122955.4(BSCL2):c.836G>T (p.Arg279Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001866993] Chr11:62692403 [GRCh38]
Chr11:62459875 [GRCh37]
Chr11:11q12.3
uncertain significance
NC_000011.9:g.(?_62380754)_(62472984_?)dup duplication Larsen-like syndrome, B3GAT3 type [RCV001918889] Chr11:62380754..62472984 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.268A>T (p.Arg90Trp) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001990045] Chr11:62705437 [GRCh38]
Chr11:62472909 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1330G>A (p.Gly444Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001976884]|Inborn genetic diseases [RCV002324435] Chr11:62690426 [GRCh38]
Chr11:62457898 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.971G>C (p.Gly324Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001881902] Chr11:62691314 [GRCh38]
Chr11:62458786 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.363G>T (p.Met121Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001951715] Chr11:62705342 [GRCh38]
Chr11:62472814 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.883C>A (p.Pro295Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001959236] Chr11:62691402 [GRCh38]
Chr11:62458874 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1171G>A (p.Glu391Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001980486] Chr11:62690675 [GRCh38]
Chr11:62458147 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1159C>T (p.Gln387Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001864691] Chr11:62690687 [GRCh38]
Chr11:62458159 [GRCh37]
Chr11:11q12.3
pathogenic
NM_001122955.4(BSCL2):c.1144T>C (p.Ser382Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001925824] Chr11:62690796 [GRCh38]
Chr11:62458268 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.469A>G (p.Lys157Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001976183] Chr11:62702485 [GRCh38]
Chr11:62469957 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.487-20A>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002128840]|Congenital generalized lipodystrophy type 2 [RCV002505793] Chr11:62694731 [GRCh38]
Chr11:62462203 [GRCh37]
Chr11:11q12.3
benign|likely benign
NM_012202.5(GNG3):c.15C>G (p.Thr5=) single nucleotide variant not provided [RCV002211187] Chr11:62708310 [GRCh38]
Chr11:62475782 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1359C>G (p.Leu453=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002090995] Chr11:62690397 [GRCh38]
Chr11:62457869 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.486+1G>T single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV002248981] Chr11:62702467 [GRCh38]
Chr11:62469939 [GRCh37]
Chr11:11q12.3
likely pathogenic
NM_001122955.4(BSCL2):c.1269G>A (p.Thr423=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002107978]|Congenital generalized lipodystrophy type 2 [RCV002494239] Chr11:62690487 [GRCh38]
Chr11:62457959 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.849C>T (p.His283=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002087006] Chr11:62692390 [GRCh38]
Chr11:62459862 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.765G>A (p.Ser255=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003093890]|not provided [RCV002226102] Chr11:62692663 [GRCh38]
Chr11:62460135 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_001122955.4(BSCL2):c.507G>C (p.Pro169=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002085213] Chr11:62694691 [GRCh38]
Chr11:62462163 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.765+16G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002079587] Chr11:62692647 [GRCh38]
Chr11:62460119 [GRCh37]
Chr11:11q12.3
benign
NM_001122955.4(BSCL2):c.1073-8A>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002165550] Chr11:62690875 [GRCh38]
Chr11:62458347 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.423C>T (p.Ser141=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002196193] Chr11:62702531 [GRCh38]
Chr11:62470003 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.404+11C>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002172023] Chr11:62705290 [GRCh38]
Chr11:62472762 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.630+12_630+14del microsatellite Charcot-Marie-Tooth disease type 2 [RCV002149066] Chr11:62694554..62694556 [GRCh38]
Chr11:62462026..62462028 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.546T>A (p.Pro182=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002215904] Chr11:62694652 [GRCh38]
Chr11:62462124 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.897C>T (p.Ala299=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002216284] Chr11:62691388 [GRCh38]
Chr11:62458860 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1119G>A (p.Glu373=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002212303] Chr11:62690821 [GRCh38]
Chr11:62458293 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.786G>A (p.Ala262=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002116290] Chr11:62692453 [GRCh38]
Chr11:62459925 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1235-4C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002091409] Chr11:62690525 [GRCh38]
Chr11:62457997 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.863+10del deletion Charcot-Marie-Tooth disease type 2 [RCV002076635] Chr11:62692366 [GRCh38]
Chr11:62459838 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1153+16C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002145254] Chr11:62690771 [GRCh38]
Chr11:62458243 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1005+18C>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002078572] Chr11:62691262 [GRCh38]
Chr11:62458734 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.631-6C>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002131746]|Inborn genetic diseases [RCV002331806] Chr11:62692803 [GRCh38]
Chr11:62460275 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_001122955.4(BSCL2):c.766-10C>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002078018] Chr11:62692483 [GRCh38]
Chr11:62459955 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1368C>T (p.Arg456=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002101608] Chr11:62690388 [GRCh38]
Chr11:62457860 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1242C>G (p.Gly414=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002154039] Chr11:62690514 [GRCh38]
Chr11:62457986 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.405-20C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002121235] Chr11:62702569 [GRCh38]
Chr11:62470041 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.864-6C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002083606]|Inborn genetic diseases [RCV002361488] Chr11:62691427 [GRCh38]
Chr11:62458899 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_001122955.4(BSCL2):c.933C>T (p.Ser311=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002139194]|Congenital generalized lipodystrophy type 2 [RCV002494465]|not provided [RCV003395413] Chr11:62691352 [GRCh38]
Chr11:62458824 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1235-17T>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002101280] Chr11:62690538 [GRCh38]
Chr11:62458010 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.405-21TCC[2] microsatellite Charcot-Marie-Tooth disease type 2 [RCV002121632]|Congenital generalized lipodystrophy type 2 [RCV002500230] Chr11:62702562..62702564 [GRCh38]
Chr11:62470034..62470036 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1073-14C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002183208] Chr11:62690881 [GRCh38]
Chr11:62458353 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.927C>T (p.Phe309=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002138219] Chr11:62691358 [GRCh38]
Chr11:62458830 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1234+11T>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002120869] Chr11:62690601 [GRCh38]
Chr11:62458073 [GRCh37]
Chr11:11q12.3
likely benign
NC_000011.9:g.(?_58916346)_(64972349_?)dup duplication Leukocyte adhesion deficiency 3 [RCV003113394]|not provided [RCV003113393] Chr11:58916346..64972349 [GRCh37]
Chr11:11q12.1-13.1
uncertain significance|no classifications from unflagged records
NM_001122955.4(BSCL2):c.547G>A (p.Val183Met) single nucleotide variant not provided [RCV003120318] Chr11:62694651 [GRCh38]
Chr11:62462123 [GRCh37]
Chr11:11q12.3
uncertain significance
NC_000011.9:g.(?_62457839)_(62462203_?)del deletion Charcot-Marie-Tooth disease type 2 [RCV003122890] Chr11:62457839..62462203 [GRCh37]
Chr11:11q12.3
pathogenic
NM_001122955.4(BSCL2):c.634A>G (p.Met212Val) single nucleotide variant not provided [RCV002285941] Chr11:62692794 [GRCh38]
Chr11:62460266 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.78C>G (p.Asp26Glu) single nucleotide variant not provided [RCV002272090] Chr11:62707118 [GRCh38]
Chr11:62474590 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1310C>T (p.Ala437Val) single nucleotide variant Congenital generalized lipodystrophy type 2 [RCV002266574] Chr11:62690446 [GRCh38]
Chr11:62457918 [GRCh37]
Chr11:11q12.3
uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25
pathogenic
NM_001122955.4(BSCL2):c.1376G>C (p.Cys459Ser) single nucleotide variant Inborn genetic diseases [RCV002332952]|not provided [RCV002274568] Chr11:62690380 [GRCh38]
Chr11:62457852 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.773C>G (p.Pro258Arg) single nucleotide variant not provided [RCV002286896] Chr11:62692466 [GRCh38]
Chr11:62459938 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.769G>C (p.Val257Leu) single nucleotide variant Inborn genetic diseases [RCV003382874]|not provided [RCV002261920] Chr11:62692470 [GRCh38]
Chr11:62459942 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.935T>C (p.Val312Ala) single nucleotide variant Neuronopathy, distal hereditary motor, type 5C [RCV002290269] Chr11:62691350 [GRCh38]
Chr11:62458822 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.259C>T (p.Arg87Cys) single nucleotide variant Neuronopathy, distal hereditary motor, type 5C [RCV002290383] Chr11:62705446 [GRCh38]
Chr11:62472918 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.88-673T>C single nucleotide variant not provided [RCV002292113] Chr11:62706290 [GRCh38]
Chr11:62473762 [GRCh37]
Chr11:11q12.3
benign|likely benign
NM_001122955.4(BSCL2):c.905G>A (p.Gly302Asp) single nucleotide variant Inborn genetic diseases [RCV002367493] Chr11:62691380 [GRCh38]
Chr11:62458852 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.512G>T (p.Arg171Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003095911]|not provided [RCV002261921] Chr11:62694686 [GRCh38]
Chr11:62462158 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.868C>G (p.Leu290Val) single nucleotide variant Inborn genetic diseases [RCV002369301] Chr11:62691417 [GRCh38]
Chr11:62458889 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1076dup (p.Pro359_Glu360insTer) duplication Severe neurodegenerative syndrome with lipodystrophy [RCV002465429] Chr11:62690863..62690864 [GRCh38]
Chr11:62458335..62458336 [GRCh37]
Chr11:11q12.3
likely pathogenic
NM_001122955.4(BSCL2):c.938T>C (p.Ile313Thr) single nucleotide variant not provided [RCV002474074] Chr11:62691347 [GRCh38]
Chr11:62458819 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.338A>G (p.Tyr113Cys) single nucleotide variant Inborn genetic diseases [RCV002396894] Chr11:62705367 [GRCh38]
Chr11:62472839 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.580A>G (p.Ile194Val) single nucleotide variant Inborn genetic diseases [RCV002357382] Chr11:62694618 [GRCh38]
Chr11:62462090 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.204C>G (p.Asp68Glu) single nucleotide variant Inborn genetic diseases [RCV002380781] Chr11:62705501 [GRCh38]
Chr11:62472973 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.497A>G (p.Tyr166Cys) single nucleotide variant Inborn genetic diseases [RCV002444179] Chr11:62694701 [GRCh38]
Chr11:62462173 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.265C>T (p.Arg89Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003776384]|Inborn genetic diseases [RCV002380514] Chr11:62705440 [GRCh38]
Chr11:62472912 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1315G>A (p.Val439Ile) single nucleotide variant Inborn genetic diseases [RCV002442278] Chr11:62690441 [GRCh38]
Chr11:62457913 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1097C>T (p.Thr366Ile) single nucleotide variant Inborn genetic diseases [RCV002449948] Chr11:62690843 [GRCh38]
Chr11:62458315 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.908T>C (p.Val303Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003103367]|Inborn genetic diseases [RCV002378397] Chr11:62691377 [GRCh38]
Chr11:62458849 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.559T>G (p.Leu187Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002303150] Chr11:62694639 [GRCh38]
Chr11:62462111 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1154-20C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002816240] Chr11:62690712 [GRCh38]
Chr11:62458184 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.487-1G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002681753] Chr11:62694712 [GRCh38]
Chr11:62462184 [GRCh37]
Chr11:11q12.3
likely pathogenic
NM_001122955.4(BSCL2):c.1083C>T (p.Gly361=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003013858] Chr11:62690857 [GRCh38]
Chr11:62458329 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.666G>A (p.Met222Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003017757] Chr11:62692762 [GRCh38]
Chr11:62460234 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.863+14T>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002863699] Chr11:62692362 [GRCh38]
Chr11:62459834 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.630+4A>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002686041] Chr11:62694564 [GRCh38]
Chr11:62462036 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1024G>C (p.Asp342His) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002904892] Chr11:62691123 [GRCh38]
Chr11:62458595 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1279C>T (p.Leu427=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002967731] Chr11:62690477 [GRCh38]
Chr11:62457949 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1072+3A>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002995256] Chr11:62691072 [GRCh38]
Chr11:62458544 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.887T>C (p.Met296Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002620478] Chr11:62691398 [GRCh38]
Chr11:62458870 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.250T>G (p.Leu84Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002785824] Chr11:62705455 [GRCh38]
Chr11:62472927 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1220C>T (p.Pro407Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003001945]|Inborn genetic diseases [RCV003001946] Chr11:62690626 [GRCh38]
Chr11:62458098 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.864-9del deletion Charcot-Marie-Tooth disease type 2 [RCV002914428] Chr11:62691430 [GRCh38]
Chr11:62458902 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.511C>T (p.Arg171Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002640650] Chr11:62694687 [GRCh38]
Chr11:62462159 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1073-16C>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003039492] Chr11:62690883 [GRCh38]
Chr11:62458355 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1143C>T (p.Pro381=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002640506] Chr11:62690797 [GRCh38]
Chr11:62458269 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.404+11C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002621138] Chr11:62705290 [GRCh38]
Chr11:62472762 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.371_374dup (p.His126fs) duplication Charcot-Marie-Tooth disease type 2 [RCV002846756] Chr11:62705330..62705331 [GRCh38]
Chr11:62472802..62472803 [GRCh37]
Chr11:11q12.3
pathogenic
NM_001122955.4(BSCL2):c.528T>G (p.Leu176=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003019215] Chr11:62694670 [GRCh38]
Chr11:62462142 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1025A>C (p.Asp342Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002639889] Chr11:62691122 [GRCh38]
Chr11:62458594 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.404+11C>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002923591] Chr11:62705290 [GRCh38]
Chr11:62472762 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.571T>C (p.Leu191=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002821034] Chr11:62694627 [GRCh38]
Chr11:62462099 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1152A>G (p.Thr384=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002848050] Chr11:62690788 [GRCh38]
Chr11:62458260 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.350A>G (p.Tyr117Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002735429] Chr11:62705355 [GRCh38]
Chr11:62472827 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.329T>G (p.Val110Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002735430] Chr11:62705376 [GRCh38]
Chr11:62472848 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1089G>A (p.Glu363=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002659699] Chr11:62690851 [GRCh38]
Chr11:62458323 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.631-5G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003038776] Chr11:62692802 [GRCh38]
Chr11:62460274 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_012202.5(GNG3):c.145G>A (p.Ala49Thr) single nucleotide variant Inborn genetic diseases [RCV002789681] Chr11:62708723 [GRCh38]
Chr11:62476195 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.790_792del (p.Ile264del) deletion Charcot-Marie-Tooth disease type 2 [RCV002894061] Chr11:62692447..62692449 [GRCh38]
Chr11:62459919..62459921 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1006-20C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003041236] Chr11:62691161 [GRCh38]
Chr11:62458633 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.630G>T (p.Ser210=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002572742] Chr11:62694568 [GRCh38]
Chr11:62462040 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.404+14_404+16del deletion Charcot-Marie-Tooth disease type 2 [RCV002890629] Chr11:62705285..62705287 [GRCh38]
Chr11:62472757..62472759 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.633G>A (p.Val211=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002643545] Chr11:62692795 [GRCh38]
Chr11:62460267 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1341A>G (p.Glu447=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002853175] Chr11:62690415 [GRCh38]
Chr11:62457887 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1005+15G>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003041581] Chr11:62691265 [GRCh38]
Chr11:62458737 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1051A>C (p.Arg351=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002575702] Chr11:62691096 [GRCh38]
Chr11:62458568 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1168G>C (p.Glu390Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003060006] Chr11:62690678 [GRCh38]
Chr11:62458150 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1234+19C>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002600557] Chr11:62690593 [GRCh38]
Chr11:62458065 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.260G>A (p.Arg87His) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002922560] Chr11:62705445 [GRCh38]
Chr11:62472917 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1314T>C (p.Pro438=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002770707] Chr11:62690442 [GRCh38]
Chr11:62457914 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1073-16del deletion Charcot-Marie-Tooth disease type 2 [RCV002579208] Chr11:62690883 [GRCh38]
Chr11:62458355 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.205C>T (p.Pro69Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002746322] Chr11:62705500 [GRCh38]
Chr11:62472972 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.873A>T (p.Leu291=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002597596] Chr11:62691412 [GRCh38]
Chr11:62458884 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.567_568insGGCATGGACCCCAGTAACACCACCTAAATAGCAGCCCTAATCATCGCCAATTCTTCTCGTTCGGGAGGTGAGGTTGTCGACTGCAGAGAGTCGATCACGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATTTGGGCATG (p.Phe190delinsGlyMetAspProSerAsnThrThrTer) insertion Charcot-Marie-Tooth disease type 2 [RCV003048498] Chr11:62694630..62694631 [GRCh38]
Chr11:62462102..62462103 [GRCh37]
Chr11:11q12.3
pathogenic
NM_001122955.4(BSCL2):c.1153+12C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002632576] Chr11:62690775 [GRCh38]
Chr11:62458247 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.652G>C (p.Asp218His) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002791675] Chr11:62692776 [GRCh38]
Chr11:62460248 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1087GAG[1] (p.Glu364del) microsatellite Charcot-Marie-Tooth disease type 2 [RCV002604900] Chr11:62690848..62690850 [GRCh38]
Chr11:62458320..62458322 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.404+16T>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002654543] Chr11:62705285 [GRCh38]
Chr11:62472757 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1022G>C (p.Arg341Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003071425] Chr11:62691125 [GRCh38]
Chr11:62458597 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.487-19T>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002607947] Chr11:62694730 [GRCh38]
Chr11:62462202 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1072+16G>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002609353] Chr11:62691059 [GRCh38]
Chr11:62458531 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.932G>A (p.Ser311Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002942700] Chr11:62691353 [GRCh38]
Chr11:62458825 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.446C>G (p.Pro149Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003225675] Chr11:62702508 [GRCh38]
Chr11:62469980 [GRCh37]
Chr11:11q12.3
likely pathogenic
NM_001122955.4(BSCL2):c.937A>G (p.Ile313Val) single nucleotide variant not provided [RCV003143830] Chr11:62691348 [GRCh38]
Chr11:62458820 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.430T>C (p.Ser144Pro) single nucleotide variant not provided [RCV003143831] Chr11:62702524 [GRCh38]
Chr11:62469996 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1043T>A (p.Val348Asp) single nucleotide variant not provided [RCV003143829] Chr11:62691104 [GRCh38]
Chr11:62458576 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.943C>T (p.Leu315Phe) single nucleotide variant not provided [RCV003332681] Chr11:62691342 [GRCh38]
Chr11:62458814 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.178C>T (p.Pro60Ser) single nucleotide variant not specified [RCV003331655] Chr11:62705527 [GRCh38]
Chr11:62472999 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1270G>C (p.Glu424Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003777547]|Inborn genetic diseases [RCV003350566] Chr11:62690486 [GRCh38]
Chr11:62457958 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1005+14A>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003873552] Chr11:62691266 [GRCh38]
Chr11:62458738 [GRCh37]
Chr11:11q12.3
likely benign
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 copy number gain not provided [RCV003484842] Chr11:59923608..76272324 [GRCh37]
Chr11:11q12.2-13.5
pathogenic
NM_001122955.4(BSCL2):c.829T>C (p.Tyr277His) single nucleotide variant BSCL2-related condition [RCV003400114]|Charcot-Marie-Tooth disease type 2 [RCV003745596] Chr11:62692410 [GRCh38]
Chr11:62459882 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.744C>T (p.Tyr248=) single nucleotide variant not provided [RCV003395880] Chr11:62692684 [GRCh38]
Chr11:62460156 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.103G>T (p.Ala35Ser) single nucleotide variant not provided [RCV003395882] Chr11:62705602 [GRCh38]
Chr11:62473074 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.351C>T (p.Tyr117=) single nucleotide variant not provided [RCV003395881] Chr11:62705354 [GRCh38]
Chr11:62472826 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1234+4A>C single nucleotide variant not provided [RCV003443698] Chr11:62690608 [GRCh38]
Chr11:62458080 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.968G>A (p.Trp323Ter) single nucleotide variant not provided [RCV003395879] Chr11:62691317 [GRCh38]
Chr11:62458789 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.816G>A (p.Gln272=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003824852] Chr11:62692423 [GRCh38]
Chr11:62459895 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.591C>A (p.Tyr197Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003581939] Chr11:62694607 [GRCh38]
Chr11:62462079 [GRCh37]
Chr11:11q12.3
pathogenic
NM_001122955.4(BSCL2):c.1230T>C (p.Ser410=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003745187] Chr11:62690616 [GRCh38]
Chr11:62458088 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.440C>T (p.Ser147Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003745288] Chr11:62702514 [GRCh38]
Chr11:62469986 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1233T>C (p.Asp411=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003745619] Chr11:62690613 [GRCh38]
Chr11:62458085 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.675A>G (p.Thr225=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003583042] Chr11:62692753 [GRCh38]
Chr11:62460225 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1024_1025del (p.Asp342fs) microsatellite Charcot-Marie-Tooth disease type 2 [RCV003743517] Chr11:62691122..62691123 [GRCh38]
Chr11:62458594..62458595 [GRCh37]
Chr11:11q12.3
pathogenic
NM_001122955.4(BSCL2):c.1153G>C (p.Glu385Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003582038] Chr11:62690787 [GRCh38]
Chr11:62458259 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.396C>G (p.Phe132Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003811699] Chr11:62705309 [GRCh38]
Chr11:62472781 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.864-16C>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003744121] Chr11:62691437 [GRCh38]
Chr11:62458909 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1005+11_1005+16del deletion Charcot-Marie-Tooth disease type 2 [RCV003744129] Chr11:62691264..62691269 [GRCh38]
Chr11:62458736..62458741 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1006-2A>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003744196] Chr11:62691143 [GRCh38]
Chr11:62458615 [GRCh37]
Chr11:11q12.3
likely pathogenic
NM_001122955.4(BSCL2):c.630+15C>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003582343] Chr11:62694553 [GRCh38]
Chr11:62462025 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.909T>G (p.Val303=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003582498] Chr11:62691376 [GRCh38]
Chr11:62458848 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.193A>G (p.Met65Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003581186] Chr11:62705512 [GRCh38]
Chr11:62472984 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.404+17A>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003582529] Chr11:62705284 [GRCh38]
Chr11:62472756 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.567_568insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTTGGGCATG (p.Phe190delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer) insertion Charcot-Marie-Tooth disease type 2 [RCV003582731] Chr11:62694630..62694631 [GRCh38]
Chr11:62462102..62462103 [GRCh37]
Chr11:11q12.3
pathogenic
NM_001122955.4(BSCL2):c.748G>A (p.Asp250Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003582211] Chr11:62692680 [GRCh38]
Chr11:62460152 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.747A>G (p.Ala249=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003581499] Chr11:62692681 [GRCh38]
Chr11:62460153 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1295C>T (p.Pro432Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003743266] Chr11:62690461 [GRCh38]
Chr11:62457933 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.376C>T (p.His126Tyr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003581114] Chr11:62705329 [GRCh38]
Chr11:62472801 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.928C>T (p.Leu310Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003583083] Chr11:62691357 [GRCh38]
Chr11:62458829 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1288C>A (p.Pro430Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003745680] Chr11:62690468 [GRCh38]
Chr11:62457940 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1005+16G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003744458] Chr11:62691264 [GRCh38]
Chr11:62458736 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.555A>T (p.Gln185His) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003839834] Chr11:62694643 [GRCh38]
Chr11:62462115 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1371C>A (p.Pro457=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003744538] Chr11:62690385 [GRCh38]
Chr11:62457857 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.357C>T (p.Ser119=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003745037] Chr11:62705348 [GRCh38]
Chr11:62472820 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1235-2_1235-1insCCAA insertion Charcot-Marie-Tooth disease type 2 [RCV003582741] Chr11:62690522..62690523 [GRCh38]
Chr11:62457994..62457995 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.487-4G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003744503] Chr11:62694715 [GRCh38]
Chr11:62462187 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1005+19C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003582194] Chr11:62691261 [GRCh38]
Chr11:62458733 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1239A>G (p.Ser413=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003582789] Chr11:62690517 [GRCh38]
Chr11:62457989 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1090_1091inv (p.Glu364Ser) inversion Charcot-Marie-Tooth disease type 2 [RCV003582916] Chr11:62690849..62690850 [GRCh38]
Chr11:62458321..62458322 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.549G>A (p.Val183=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003743477] Chr11:62694649 [GRCh38]
Chr11:62462121 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1063C>T (p.His355Tyr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003581187] Chr11:62691084 [GRCh38]
Chr11:62458556 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.509A>T (p.Tyr170Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003581213] Chr11:62694689 [GRCh38]
Chr11:62462161 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.925T>A (p.Phe309Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003581316] Chr11:62691360 [GRCh38]
Chr11:62458832 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1110T>C (p.Asp370=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003582301] Chr11:62690830 [GRCh38]
Chr11:62458302 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.830A>C (p.Tyr277Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003581506] Chr11:62692409 [GRCh38]
Chr11:62459881 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.711A>C (p.Ala237=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003582366] Chr11:62692717 [GRCh38]
Chr11:62460189 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.765+7G>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003743405] Chr11:62692656 [GRCh38]
Chr11:62460128 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.684C>T (p.Phe228=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003743462] Chr11:62692744 [GRCh38]
Chr11:62460216 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1073-16C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003743457] Chr11:62690883 [GRCh38]
Chr11:62458355 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.1150A>G (p.Thr384Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003744107] Chr11:62690790 [GRCh38]
Chr11:62458262 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.405-16del deletion Charcot-Marie-Tooth disease type 2 [RCV003745262] Chr11:62702565 [GRCh38]
Chr11:62470037 [GRCh37]
Chr11:11q12.3
likely benign
NM_001122955.4(BSCL2):c.921C>A (p.Phe307Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003581312] Chr11:62691364 [GRCh38]
Chr11:62458836 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.1291G>C (p.Ala431Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003853449] Chr11:62690465 [GRCh38]
Chr11:62457937 [GRCh37]
Chr11:11q12.3
uncertain significance
GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3 copy number gain not specified [RCV003986918] Chr11:50398499..63924462 [GRCh37]
Chr11:11p11.12-q13.1
likely pathogenic
NM_001122955.4(BSCL2):c.445C>A (p.Pro149Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003745959] Chr11:62702509 [GRCh38]
Chr11:62469981 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_001122955.4(BSCL2):c.836G>A (p.Arg279His) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003818715] Chr11:62692403 [GRCh38]
Chr11:62459875 [GRCh37]
Chr11:11q12.3
uncertain significance
GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3 copy number gain not specified [RCV003986944] Chr11:56895955..69295402 [GRCh37]
Chr11:11q12.1-13.3
likely pathogenic
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.

Markers in Region
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


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
  CP068267 (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

RefSeq Acc Id: ENST00000278893   ⟹   ENSP00000278893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,690,276 - 62,706,315 (-)Ensembl
RefSeq Acc Id: ENST00000301781   ⟹   ENSP00000301781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,690,312 - 62,707,518 (-)Ensembl
RefSeq Acc Id: ENST00000360796   ⟹   ENSP00000354032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,690,275 - 62,707,424 (-)Ensembl
RefSeq Acc Id: ENST00000403098   ⟹   ENSP00000384258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,690,281 - 62,692,749 (-)Ensembl
RefSeq Acc Id: ENST00000403550   ⟹   ENSP00000385561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,690,295 - 62,706,234 (-)Ensembl
RefSeq Acc Id: ENST00000405837   ⟹   ENSP00000385332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,690,275 - 62,709,514 (-)Ensembl
RefSeq Acc Id: ENST00000407022   ⟹   ENSP00000384080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,690,295 - 62,706,344 (-)Ensembl
RefSeq Acc Id: ENST00000412351
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,690,535 - 62,695,389 (-)Ensembl
RefSeq Acc Id: ENST00000413908   ⟹   ENSP00000393728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,705,494 - 62,707,463 (-)Ensembl
RefSeq Acc Id: ENST00000421906   ⟹   ENSP00000413209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,690,315 - 62,706,344 (-)Ensembl
RefSeq Acc Id: ENST00000448568   ⟹   ENSP00000413340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,692,376 - 62,706,218 (-)Ensembl
RefSeq Acc Id: ENST00000449636   ⟹   ENSP00000405265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,689,289 - 62,707,426 (-)Ensembl
RefSeq Acc Id: ENST00000463679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,690,347 - 62,691,929 (-)Ensembl
RefSeq Acc Id: ENST00000464544   ⟹   ENSP00000431782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,705,426 - 62,709,845 (-)Ensembl
RefSeq Acc Id: ENST00000468505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,690,970 - 62,692,797 (-)Ensembl
RefSeq Acc Id: ENST00000470529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,690,276 - 62,691,178 (-)Ensembl
RefSeq Acc Id: ENST00000524862   ⟹   ENSP00000433888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,690,295 - 62,709,536 (-)Ensembl
RefSeq Acc Id: ENST00000525000   ⟹   ENSP00000437044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,694,676 - 62,707,144 (-)Ensembl
RefSeq Acc Id: ENST00000526426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,692,410 - 62,694,712 (-)Ensembl
RefSeq Acc Id: ENST00000528874   ⟹   ENSP00000436991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,707,126 - 62,709,064 (-)Ensembl
RefSeq Acc Id: ENST00000530009   ⟹   ENSP00000435500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,707,111 - 62,709,845 (-)Ensembl
RefSeq Acc Id: ENST00000530900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,694,600 - 62,706,256 (-)Ensembl
RefSeq Acc Id: ENST00000531524   ⟹   ENSP00000436026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,692,696 - 62,709,528 (-)Ensembl
RefSeq Acc Id: ENST00000532115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,691,336 - 62,694,711 (-)Ensembl
RefSeq Acc Id: ENST00000532818   ⟹   ENSP00000435831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,705,336 - 62,709,731 (-)Ensembl
RefSeq Acc Id: ENST00000533982   ⟹   ENSP00000434149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,694,708 - 62,707,349 (-)Ensembl
RefSeq Acc Id: ENST00000537604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,694,558 - 62,706,220 (-)Ensembl
RefSeq Acc Id: ENST00000679883   ⟹   ENSP00000505838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,690,275 - 62,709,537 (-)Ensembl
RefSeq Acc Id: ENST00000682003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,690,292 - 62,703,131 (-)Ensembl
RefSeq Acc Id: ENST00000682223   ⟹   ENSP00000508140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,690,345 - 62,707,587 (-)Ensembl
RefSeq Acc Id: ENST00000682262   ⟹   ENSP00000507103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,689,289 - 62,707,587 (-)Ensembl
RefSeq Acc Id: ENST00000682555   ⟹   ENSP00000507814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,689,289 - 62,707,587 (-)Ensembl
RefSeq Acc Id: ENST00000682644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,690,417 - 62,707,587 (-)Ensembl
RefSeq Acc Id: ENST00000682794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,690,319 - 62,707,587 (-)Ensembl
RefSeq Acc Id: ENST00000683025   ⟹   ENSP00000507028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,689,289 - 62,707,587 (-)Ensembl
RefSeq Acc Id: ENST00000683193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,690,326 - 62,691,866 (-)Ensembl
RefSeq Acc Id: ENST00000683296   ⟹   ENSP00000507725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,690,275 - 62,707,587 (-)Ensembl
RefSeq Acc Id: ENST00000683368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,690,319 - 62,695,388 (-)Ensembl
RefSeq Acc Id: ENST00000683494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,690,292 - 62,707,587 (-)Ensembl
RefSeq Acc Id: ENST00000683846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,689,289 - 62,695,537 (-)Ensembl
RefSeq Acc Id: ENST00000683892
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,689,289 - 62,709,519 (-)Ensembl
RefSeq Acc Id: ENST00000684067   ⟹   ENSP00000506799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,690,288 - 62,707,587 (-)Ensembl
RefSeq Acc Id: ENST00000684115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,689,289 - 62,707,587 (-)Ensembl
RefSeq Acc Id: ENST00000684258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,690,291 - 62,695,625 (-)Ensembl
RefSeq Acc Id: ENST00000684285   ⟹   ENSP00000507669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,689,289 - 62,707,587 (-)Ensembl
RefSeq Acc Id: ENST00000684475   ⟹   ENSP00000507429
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,689,289 - 62,707,587 (-)Ensembl
RefSeq Acc Id: ENST00000684609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,690,362 - 62,707,587 (-)Ensembl
RefSeq Acc Id: ENST00000684720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,690,414 - 62,707,587 (-)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
T2T-CHM13v2.01162,679,694 - 62,696,841 (-)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
T2T-CHM13v2.01162,679,681 - 62,695,735 (-)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
T2T-CHM13v2.01162,679,694 - 62,698,954 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001386028   ⟹   NP_001372957
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,690,275 - 62,709,537 (-)NCBI
T2T-CHM13v2.01162,679,694 - 62,698,954 (-)NCBI
Sequence:
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
T2T-CHM13v2.01162,679,681 - 62,695,735 (-)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  
Ensembl Protein ENSP00000278893
  ENSP00000278893.7
  ENSP00000301781.5
  ENSP00000354032
  ENSP00000354032.5
  ENSP00000384080
  ENSP00000384080.3
  ENSP00000384258.2
  ENSP00000385332
  ENSP00000385332.1
  ENSP00000385561.1
  ENSP00000393728.1
  ENSP00000405265.2
  ENSP00000413209.1
  ENSP00000413340.2
  ENSP00000431782.1
  ENSP00000433888
  ENSP00000433888.2
  ENSP00000434149.1
  ENSP00000435500.1
  ENSP00000435831.1
  ENSP00000436026.1
  ENSP00000436991.1
  ENSP00000505838
  ENSP00000505838.1
  ENSP00000506799.1
  ENSP00000507028.1
  ENSP00000507103.1
  ENSP00000507429.1
  ENSP00000507669.1
  ENSP00000507725.1
  ENSP00000507814.1
  ENSP00000508140.1
GenBank Protein Q96G97 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001116427   ⟸   NM_001122955
- Peptide Label: isoform 1
- UniProtKB: A0A804HK11 (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: Q96SV1 (UniProtKB/Swiss-Prot),   Q567S1 (UniProtKB/Swiss-Prot),   G3XAE4 (UniProtKB/Swiss-Prot),   Q9BSQ0 (UniProtKB/Swiss-Prot),   Q96G97 (UniProtKB/Swiss-Prot),   A0A024R549 (UniProtKB/TrEMBL),   Q53EN3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000431782   ⟸   ENST00000464544
RefSeq Acc Id: ENSP00000435500   ⟸   ENST00000530009
RefSeq Acc Id: ENSP00000393728   ⟸   ENST00000413908