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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

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	62,690,262 - 62,709,537 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	62,689,289 - 62,709,845 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	62,457,734 - 62,477,009 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	62,214,323 - 62,231,395 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	62,214,322 - 62,231,395	NCBI
Celera	11	59,786,117 - 59,805,403 (-)	NCBI		Celera
Cytogenetic Map	11	q12.3	NCBI
HuRef	11	58,786,515 - 58,805,891 (-)	NCBI		HuRef
CHM1_1	11	62,340,845 - 62,360,176 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	11	62,679,681 - 62,698,954 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Animal Disease Models (EXP)

Asthenozoospermia (EXP)

autosomal dominant distal hereditary motor neuronopathy 13 (IAGP)

autosomal dominant distal hereditary motor neuronopathy 5 (IAGP)

azoospermia (ISO)

breast carcinoma (IAGP)

Charcot-Marie-Tooth disease (IAGP)

Charcot-Marie-Tooth disease type 2 (IAGP)

congenital generalized lipodystrophy (EXP,IAGP)

congenital generalized lipodystrophy type 2 (IAGP,ISS)

Delayed Hypersensitivity (IAGP)

Delayed Puberty (EXP)

developmental and epileptic encephalopathy (IAGP)

diabetes mellitus (IAGP)

early infantile epileptic encephalopathy (IAGP)

familial partial lipodystrophy type 3 (IAGP)

genetic disease (IAGP)

hereditary spastic paraplegia (IAGP)

hereditary spastic paraplegia 17 (EXP,IAGP)

Insulin Resistance (ISO)

intellectual disability (IAGP)

Isolated Systolic Hypertension (IAGP)

Larsen-like syndrome B3GAT3 type (IAGP)

leukocyte adhesion deficiency 3 (IAGP)

lipodystrophy (EXP,IAGP)

male infertility (ISS)

neuropathy (IAGP)

oligospermia (EXP)

peripheral nervous system disease (IAGP)

Progressive Encephalopathy, with or without Lipodystrophy (IAGP)

proximal symphalangism (IAGP)

type 2 diabetes mellitus (ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

1,2-dimethylhydrazine (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

4,4'-sulfonyldiphenol (ISO)

4-nitroquinoline N-oxide (ISO)

6-propyl-2-thiouracil (ISO)

7,12-dimethyltetraphene (ISO)

aflatoxin B1 (EXP,ISO)

antimycin A (EXP)

aphidicolin (ISO)

benzo[a]pyrene (EXP,ISO)

benzo[b]fluoranthene (ISO)

beta-lapachone (EXP)

bisphenol A (ISO)

bisphenol F (ISO)

bleomycin A2 (ISO)

camptothecin (ISO)

carbon nanotube (ISO)

CGP 52608 (EXP)

chlorpyrifos (ISO)

chrysene (ISO)

cisplatin (EXP,ISO)

cobalt dichloride (ISO)

cocaine (ISO)

cyclophosphamide (ISO)

cyclosporin A (EXP)

cytarabine (ISO)

dibutyl phthalate (ISO)

doxorubicin (ISO)

elemental selenium (EXP)

epoxiconazole (ISO)

etoposide (ISO)

fenthion (ISO)

fonofos (EXP)

hydrogen peroxide (ISO)

hydroxyurea (ISO)

methidathion (ISO)

methyl methanesulfonate (EXP,ISO)

methylmercury chloride (EXP)

mifepristone (EXP)

mitomycin C (ISO)

n-propyl gallate (ISO)

paclitaxel (ISO)

paracetamol (ISO)

parathion (EXP)

pirinixic acid (ISO)

quercetin (EXP)

resorcinol (ISO)

resveratrol (ISO)

selenium atom (EXP)

sodium arsenite (ISO)

sunitinib (EXP)

temozolomide (EXP)

terbufos (EXP)

tert-butyl hydroperoxide (ISO)

tetrachloromethane (ISO)

tetracycline (ISO)

tetraphene (ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

triptonide (ISO)

valproic acid (EXP,ISO)

vitamin E (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

adipose tissue development (ISO)

central nervous system development (ISO)

chromosome organization (ISO)

cytosolic lipolysis (ISO)

determination of adult lifespan (ISO)

fat cell differentiation (ISO,ISS)

gene expression (ISO)

hair follicle development (ISO)

lipid catabolic process (IEA)

lipid droplet formation (IDA,IEA,IMP,ISO)

lipid droplet organization (IBA,IMP,ISO)

lipid metabolic process (IEA)

lipid storage (IBA,IEA,IMP,ISO)

maintenance of location in cell (ISO)

mitochondrion organization (ISO)

multicellular organism growth (ISO)

negative regulation of catalytic activity (ISO)

negative regulation of lipid catabolic process (ISS)

positive regulation of cold-induced thermogenesis (ISS)

reactive oxygen species metabolic process (ISO)

regulation of phosphatidic acid biosynthetic process (ISO)

respiratory electron transport chain (ISO)

skeletal muscle fiber development (ISO)

skeletal system development (ISO)

spermatid differentiation (ISO)

tissue homeostasis (ISO)

Cellular Component

cytoplasm (ISO)

endoplasmic reticulum (IEA)

endoplasmic reticulum membrane (IBA,IDA,IEA)

lipid droplet (IDA,IEA)

membrane (IEA)

Molecular Function

phospholipid binding (IDA)

protein binding (IPI)

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)

Abnormally high-pitched voice (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)

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)

Gait disturbance (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)

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:31515488	PMID:31708432	PMID:32094408
PMID:32108980	PMID:32236581	PMID:32296183	PMID:32320108	PMID:32814053	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	PMID:38703568

Genomics

Comparative Map Data

BSCL2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	62,690,262 - 62,709,537 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	62,689,289 - 62,709,845 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	62,457,734 - 62,477,009 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	62,214,323 - 62,231,395 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	62,214,322 - 62,231,395	NCBI
Celera	11	59,786,117 - 59,805,403 (-)	NCBI		Celera
Cytogenetic Map	11	q12.3	NCBI
HuRef	11	58,786,515 - 58,805,891 (-)	NCBI		HuRef
CHM1_1	11	62,340,845 - 62,360,176 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	11	62,679,681 - 62,698,954 (-)	NCBI		T2T-CHM13v2.0

Bscl2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	19	8,814,831 - 8,826,047 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	19	8,814,831 - 8,826,047 (+)	Ensembl		GRCm39 Ensembl
GRCm38	19	8,837,467 - 8,848,683 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	19	8,837,467 - 8,848,683 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	19	8,911,957 - 8,923,173 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	19	8,906,548 - 8,915,712 (+)	NCBI		MGSCv36	mm8
Celera	19	8,597,278 - 8,608,494 (+)	NCBI		Celera
Cytogenetic Map	19	A	NCBI
cM Map	19	5.76	NCBI

Bscl2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	215,160,764 - 215,172,540 (+)	NCBI		GRCr8
mRatBN7.2	1	205,731,828 - 205,743,430 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	205,733,872 - 205,743,421 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	214,140,405 - 214,151,980 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	221,175,225 - 221,186,823 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	213,868,074 - 213,879,673 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	225,035,956 - 225,046,137 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	225,037,737 - 225,046,040 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	231,972,073 - 231,983,764 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	211,509,675 - 211,518,963 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	211,668,104 - 211,677,392 (+)	NCBI
Celera	1	203,246,734 - 203,256,205 (+)	NCBI		Celera
Cytogenetic Map	1	q43	NCBI

Bscl2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955599	507,501 - 514,151 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955599	505,725 - 514,225 (+)	NCBI	ChiLan1.0	ChiLan1.0

BSCL2
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	9	63,916,547 - 63,934,968 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	64,959,248 - 64,976,477 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	58,046,842 - 58,064,219 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	61,399,314 - 61,416,494 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	61,399,314 - 61,416,494 (-)	Ensembl	panpan1.1		panPan2

BSCL2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	18	53,958,380 - 53,971,120 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	18	53,958,475 - 53,971,119 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	18	52,563,744 - 52,576,469 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	18	55,010,452 - 55,023,323 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	18	55,010,741 - 55,023,896 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	18	54,106,793 - 54,119,570 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	18	53,681,289 - 53,694,035 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	18	54,477,585 - 54,490,344 (+)	NCBI		UU_Cfam_GSD_1.0

Bscl2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404947	10,453,683 - 10,463,113 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936581	567,662 - 578,267 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936581	567,426 - 576,859 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

BSCL2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	9,052,070 - 9,064,886 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	9,052,676 - 9,064,890 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	8,400,731 - 8,410,537 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

BSCL2
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	1	11,198,033 - 11,216,709 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	11,200,356 - 11,216,622 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666038	108,534,784 - 108,555,013 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Bscl2
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624926	1,190,072 - 1,196,076 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624926	1,189,990 - 1,197,220 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in BSCL2
503 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 provided [RCV004777698]\|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 17 [RCV004795375]\|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]\|BSCL2-related disorder [RCV004766979]\|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 disorder [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	BSCL2-related disorder [RCV004754555]\|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]\|not provided [RCV004777639]	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 disorder [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 disorder [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 disorder [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 disorder [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]\|not specified [RCV004768696]	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	BSCL2-related disorder [RCV004701455]\|Berardinelli-Seip congenital lipodystrophy [RCV003311803]\|Charcot-Marie-Tooth disease type 2 [RCV001387719]\|Congenital generalized lipodystrophy type 2 [RCV000412601]\|Congenital generalized lipodystrophy type 2 [RCV002502439]\|Congenital generalized lipodystrophy type 2 [RCV004796166]\|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]\|not provided [RCV004591281]	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	Congenital generalized lipodystrophy type 2 [RCV004796180]\|Monogenic diabetes [RCV000445443]	Chr11:62692798 [GRCh38] Chr11:62460270 [GRCh37] Chr11:11q12.3	pathogenic\|likely 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 disorder [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]\|not provided [RCV004723101]	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]\|Inborn genetic diseases [RCV004030093]\|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 disorder [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]\|Neuronopathy, distal hereditary motor, type 5C [RCV004789193]	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]\|not specified [RCV004526774]	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]\|Inborn genetic diseases [RCV004033803]	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 disorder [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_001386027.1(BSCL2):c.-129-457C>G	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_001122955.2(BSCL2):c.-525C>T	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]\|Inborn genetic diseases [RCV004034029]	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]\|not provided [RCV004792687]	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_001386027.1(BSCL2):c.-129-653G>A	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_001386027.1(BSCL2):c.-129-861C>T	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
NC_000011.10:g.62707486C>T	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 disorder [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]\|not provided [RCV004785375]	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]\|Inborn genetic diseases [RCV004042288]	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	BSCL2-related disorder [RCV004754872]\|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	BSCL2-related disorder [RCV004754913]\|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	not specified [RCV004243874]	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.1153+1G>T	single nucleotide variant	Congenital generalized lipodystrophy type 2 [RCV004789778]	Chr11:62690786 [GRCh38] Chr11:62458258 [GRCh37] Chr11:11q12.3	uncertain significance
NM_001122955.4(BSCL2):c.653A>T (p.Asp218Val)	single nucleotide variant	not provided [RCV004777398]	Chr11:62692775 [GRCh38] Chr11:62460247 [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 disorder [RCV003400114]\|Charcot-Marie-Tooth disease type 2 [RCV003745596]\|not provided [RCV004765829]	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	Congenital generalized lipodystrophy type 2 [RCV004786940]\|not provided [RCV003395879]	Chr11:62691317 [GRCh38] Chr11:62458789 [GRCh37] Chr11:11q12.3	likely pathogenic\|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]\|not provided [RCV004573134]	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.630+3_630+6del	deletion	Congenital generalized lipodystrophy type 2 [RCV004798117]	Chr11:62694562..62694565 [GRCh38] Chr11:62462034..62462037 [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
NM_001122955.4(BSCL2):c.1073G>A (p.Gly358Glu)	single nucleotide variant	not provided [RCV003993350]	Chr11:62690867 [GRCh38] Chr11:62458339 [GRCh37] Chr11:11q12.3	uncertain significance
NM_001122955.4(BSCL2):c.782G>A (p.Gly261Glu)	single nucleotide variant	not provided [RCV004547101]	Chr11:62692457 [GRCh38] Chr11:62459929 [GRCh37] Chr11:11q12.3	uncertain significance
NM_001122955.4(BSCL2):c.195G>A (p.Met65Ile)	single nucleotide variant	not provided [RCV004547102]	Chr11:62705510 [GRCh38] Chr11:62472982 [GRCh37] Chr11:11q12.3	uncertain significance
NC_000011.9:g.(?_62439218)_(62470041_?)dup	duplication	Charcot-Marie-Tooth disease type 2 [RCV004580280]	Chr11:62439218..62470041 [GRCh37] Chr11:11q12.3	uncertain significance
NC_000011.9:g.(?_62457839)_(62460289_?)dup	duplication	Charcot-Marie-Tooth disease type 2 [RCV004580281]	Chr11:62457839..62460289 [GRCh37] Chr11:11q12.3	uncertain significance
NC_000011.9:g.(?_62457839)_(62472984_?)del	deletion	Charcot-Marie-Tooth disease type 2 [RCV004580279]	Chr11:62457839..62472984 [GRCh37] Chr11:11q12.3	pathogenic
NM_001122955.4(BSCL2):c.825dup (p.Ala276fs)	duplication	Lipodystrophy [RCV004799012]	Chr11:62692413..62692414 [GRCh38] Chr11:62459885..62459886 [GRCh37] Chr11:11q12.3	likely pathogenic
NM_001122955.4(BSCL2):c.86A>G (p.Glu29Gly)	single nucleotide variant	not provided [RCV004764178]		uncertain significance
NM_001122955.4(BSCL2):c.769G>A (p.Val257Met)	single nucleotide variant	not provided [RCV004771243]	Chr11:62692470 [GRCh38] Chr11:62459942 [GRCh37] Chr11:11q12.3	uncertain significance
NM_001122955.4(BSCL2):c.1379C>T (p.Ser460Phe)	single nucleotide variant	not provided [RCV004773724]	Chr11:62690377 [GRCh38] Chr11:62457849 [GRCh37] Chr11:11q12.3	uncertain significance
NM_001122955.4(BSCL2):c.187C>T (p.Pro63Ser)	single nucleotide variant	not provided [RCV004773944]	Chr11:62705518 [GRCh38] Chr11:62472990 [GRCh37] Chr11:11q12.3	uncertain significance
NM_001122955.4(BSCL2):c.478C>G (p.Arg160Gly)	single nucleotide variant	not provided [RCV004762295]		uncertain significance
NM_001122955.4(BSCL2):c.542C>A (p.Ser181Tyr)	single nucleotide variant	not provided [RCV004761111]		uncertain significance
NM_001122955.4(BSCL2):c.58G>C (p.Asp20His)	single nucleotide variant	not provided [RCV004726112]	Chr11:62707138 [GRCh38] Chr11:62474610 [GRCh37] Chr11:11q12.3	uncertain significance

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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1357380	BW64_H	Body weight QTL 64 (human)	2.2		Body weight	percent fat after exercise training	11	60978937	86978937	Human
597097842	GWAS1193916_H	protein measurement QTL GWAS1193916 (human)		1e-08	protein measurement		11	62696472	62696473	Human
597137569	GWAS1233643_H	smoking initiation QTL GWAS1233643 (human)		4e-13	smoking initiation		11	62690803	62690804	Human
597512100	GWAS1608174_H	educational attainment QTL GWAS1608174 (human)		8e-11	educational attainment		11	62694745	62694746	Human
407096189	GWAS745165_H	response to reverse transcriptase inhibitor, HIV-1 infection, peripheral neuropathy QTL GWAS745165 (human)		0.000006	response to viral infection trait (VT:0010439)		11	62693757	62693758	Human
597476898	GWAS1572972_H	smoking status measurement QTL GWAS1572972 (human)		8e-09	smoking status measurement		11	62706076	62706077	Human

Markers in Region

D11S987

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	67,893,340 - 67,893,449	UniSTS	GRCh37
Celera	11	65,227,362 - 65,227,471	UniSTS
HuRef	11	64,228,670 - 64,228,775	UniSTS
Marshfield Genetic Map	11	67.48	RGD

D11S1765

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	60,778,544 - 60,778,777	UniSTS	GRCh37
Build 36	11	60,535,120 - 60,535,353	RGD	NCBI36
Celera	11	58,139,595 - 58,139,842	RGD
Cytogenetic Map	11	q13	UniSTS
Marshfield Genetic Map	11	61.78	UniSTS
Marshfield Genetic Map	11	61.78	RGD
Genethon Genetic Map	11	65.0	UniSTS
TNG Radiation Hybrid Map	11	26764.0	UniSTS
deCODE Assembly Map	11	65.93	UniSTS
GeneMap99-GB4 RH Map	11	225.4	UniSTS
Whitehead-RH Map	11	298.7	UniSTS
Whitehead-YAC Contig Map	11		UniSTS

D11S4063

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	62,457,824 - 62,457,932	UniSTS	GRCh37
Build 36	11	62,214,400 - 62,214,508	RGD	NCBI36
Celera	11	59,786,194 - 59,786,302	RGD
Cytogenetic Map	11	q12.3	UniSTS
Cytogenetic Map	11	q13	UniSTS
HuRef	11	58,786,605 - 58,786,713	UniSTS

D11S4928

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	62,457,829 - 62,458,149	UniSTS	GRCh37
Build 36	11	62,214,405 - 62,214,725	RGD	NCBI36
Celera	11	59,786,199 - 59,786,519	RGD
Cytogenetic Map	11	q12.3	UniSTS
Cytogenetic Map	11	q13	UniSTS
HuRef	11	58,786,610 - 58,786,930	UniSTS
TNG Radiation Hybrid Map	11	27109.0	UniSTS
Stanford-G3 RH Map	11	2707.0	UniSTS
NCBI RH Map	11	560.2	UniSTS
GeneMap99-G3 RH Map	11	2707.0	UniSTS

RH12537

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	62,476,500 - 62,476,651	UniSTS	GRCh37
Build 36	11	62,233,076 - 62,233,227	RGD	NCBI36
Celera	11	59,804,857 - 59,805,008	RGD
Cytogenetic Map	11	q13	UniSTS
Cytogenetic Map	11	p11	UniSTS
HuRef	11	58,805,300 - 58,805,451	UniSTS
GeneMap99-GB4 RH Map	11	230.64	UniSTS
NCBI RH Map	11	563.0	UniSTS

RH12527

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	62,457,799 - 62,457,939	UniSTS	GRCh37
Build 36	11	62,214,375 - 62,214,515	RGD	NCBI36
Celera	11	59,786,169 - 59,786,309	RGD
Cytogenetic Map	11	q12.3	UniSTS
Cytogenetic Map	11	q13	UniSTS
HuRef	11	58,786,580 - 58,786,720	UniSTS
GeneMap99-GB4 RH Map	11	230.64	UniSTS
NCBI RH Map	11	563.0	UniSTS

D11S1084

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	62,478,271 - 62,478,422	UniSTS	GRCh37
Build 36	11	62,234,847 - 62,234,998	RGD	NCBI36
Celera	11	59,806,628 - 59,806,779	RGD
Cytogenetic Map	11	q13	UniSTS
HuRef	11	58,807,071 - 58,807,222	UniSTS

Gng3

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	62,475,783 - 62,476,275	UniSTS	GRCh37
Celera	11	59,804,140 - 59,804,632	UniSTS
HuRef	11	58,804,583 - 58,805,075	UniSTS

D11S987

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	11	q13.4	UniSTS
Cytogenetic Map	11	q13	UniSTS
Cytogenetic Map	11	p13	UniSTS
Marshfield Genetic Map	11	67.48	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2436	2788	2246	4970	1725	2346	4	622	1948	464	2268	7288	6457	52	3734	849	1736	1613	172	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

Ensembl Acc Id:

ENST00000278893 ⟹ ENSP00000278893

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,690,276 - 62,706,315 (-)	Ensembl

Ensembl Acc Id:

ENST00000301781 ⟹ ENSP00000301781

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,690,312 - 62,707,518 (-)	Ensembl

Ensembl Acc Id:

ENST00000360796 ⟹ ENSP00000354032

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,690,275 - 62,707,424 (-)	Ensembl

Ensembl Acc Id:

ENST00000403098 ⟹ ENSP00000384258

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,690,281 - 62,692,749 (-)	Ensembl

Ensembl Acc Id:

ENST00000403550 ⟹ ENSP00000385561

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,690,295 - 62,706,234 (-)	Ensembl

Ensembl Acc Id:

ENST00000405837 ⟹ ENSP00000385332

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,690,275 - 62,709,514 (-)	Ensembl

Ensembl Acc Id:

ENST00000407022 ⟹ ENSP00000384080

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,690,295 - 62,706,344 (-)	Ensembl

Ensembl Acc Id:

ENST00000412351

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,690,535 - 62,695,389 (-)	Ensembl

Ensembl Acc Id:

ENST00000413908 ⟹ ENSP00000393728

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,705,494 - 62,707,463 (-)	Ensembl

Ensembl Acc Id:

ENST00000421906 ⟹ ENSP00000413209

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,690,315 - 62,706,344 (-)	Ensembl

Ensembl Acc Id:

ENST00000448568 ⟹ ENSP00000413340

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,692,376 - 62,706,218 (-)	Ensembl

Ensembl Acc Id:

ENST00000449636 ⟹ ENSP00000405265

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,689,289 - 62,707,426 (-)	Ensembl

Ensembl Acc Id:

ENST00000463679

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,690,347 - 62,691,929 (-)	Ensembl

Ensembl Acc Id:

ENST00000464544 ⟹ ENSP00000431782

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,705,426 - 62,709,845 (-)	Ensembl

Ensembl Acc Id:

ENST00000468505

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,690,970 - 62,692,797 (-)	Ensembl

Ensembl Acc Id:

ENST00000470529

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,690,276 - 62,691,178 (-)	Ensembl

Ensembl Acc Id:

ENST00000524862 ⟹ ENSP00000433888

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,690,295 - 62,709,536 (-)	Ensembl

Ensembl Acc Id:

ENST00000525000 ⟹ ENSP00000437044

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,694,676 - 62,707,144 (-)	Ensembl

Ensembl Acc Id:

ENST00000526426

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,692,410 - 62,694,712 (-)	Ensembl

Ensembl Acc Id:

ENST00000528874 ⟹ ENSP00000436991

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,707,126 - 62,709,064 (-)	Ensembl

Ensembl Acc Id:

ENST00000530009 ⟹ ENSP00000435500

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,707,111 - 62,709,845 (-)	Ensembl

Ensembl Acc Id:

ENST00000530900

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,694,600 - 62,706,256 (-)	Ensembl

Ensembl Acc Id:

ENST00000531524 ⟹ ENSP00000436026

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,692,696 - 62,709,528 (-)	Ensembl

Ensembl Acc Id:

ENST00000532115

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,691,336 - 62,694,711 (-)	Ensembl

Ensembl Acc Id:

ENST00000532818 ⟹ ENSP00000435831

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,705,336 - 62,709,731 (-)	Ensembl

Ensembl Acc Id:

ENST00000533982 ⟹ ENSP00000434149

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,694,708 - 62,707,349 (-)	Ensembl

Ensembl Acc Id:

ENST00000537604

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,694,558 - 62,706,220 (-)	Ensembl

Ensembl Acc Id:

ENST00000679883 ⟹ ENSP00000505838

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,690,275 - 62,709,537 (-)	Ensembl

Ensembl Acc Id:

ENST00000682003

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,690,292 - 62,703,131 (-)	Ensembl

Ensembl Acc Id:

ENST00000682223 ⟹ ENSP00000508140

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,690,345 - 62,707,587 (-)	Ensembl

Ensembl Acc Id:

ENST00000682262 ⟹ ENSP00000507103

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,689,289 - 62,707,587 (-)	Ensembl

Ensembl Acc Id:

ENST00000682555 ⟹ ENSP00000507814

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,689,289 - 62,707,587 (-)	Ensembl

Ensembl Acc Id:

ENST00000682644

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,690,417 - 62,707,587 (-)	Ensembl

Ensembl Acc Id:

ENST00000682794

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,690,319 - 62,707,587 (-)	Ensembl

Ensembl Acc Id:

ENST00000683025 ⟹ ENSP00000507028

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,689,289 - 62,707,587 (-)	Ensembl

Ensembl Acc Id:

ENST00000683193

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,690,326 - 62,691,866 (-)	Ensembl

Ensembl Acc Id:

ENST00000683296 ⟹ ENSP00000507725

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,690,275 - 62,707,587 (-)	Ensembl

Ensembl Acc Id:

ENST00000683368

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,690,319 - 62,695,388 (-)	Ensembl

Ensembl Acc Id:

ENST00000683494

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,690,292 - 62,707,587 (-)	Ensembl

Ensembl Acc Id:

ENST00000683846

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,689,289 - 62,695,537 (-)	Ensembl

Ensembl Acc Id:

ENST00000683892

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,689,289 - 62,709,519 (-)	Ensembl

Ensembl Acc Id:

ENST00000684067 ⟹ ENSP00000506799

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,690,288 - 62,707,587 (-)	Ensembl

Ensembl Acc Id:

ENST00000684115

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,689,289 - 62,707,587 (-)	Ensembl

Ensembl Acc Id:

ENST00000684258

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,690,291 - 62,695,625 (-)	Ensembl

Ensembl Acc Id:

ENST00000684285 ⟹ ENSP00000507669

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,689,289 - 62,707,587 (-)	Ensembl

Ensembl Acc Id:

ENST00000684475 ⟹ ENSP00000507429

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,689,289 - 62,707,587 (-)	Ensembl

Ensembl Acc Id:

ENST00000684609

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,690,362 - 62,707,587 (-)	Ensembl

Ensembl Acc Id:

ENST00000684720

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	62,690,414 - 62,707,587 (-)	Ensembl

RefSeq Acc Id:

NM_001122955 ⟹ NP_001116427

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	62,690,275 - 62,707,424 (-)	NCBI
GRCh37	11	62,457,734 - 62,477,091 (-)	ENTREZGENE
HuRef	11	58,786,515 - 58,805,891 (-)	ENTREZGENE
CHM1_1	11	62,340,845 - 62,358,264 (-)	NCBI
T2T-CHM13v2.0	11	62,679,694 - 62,696,841 (-)	NCBI

Sequence:

show sequence

ATTTGAAAATCTGACATCAGCTGGGCAGTCGCCCCCCTCCTCCTTTCCTCCCTCTACTCTGACA
CAGCACTTAGCACCTGAATCTTCGTTTCTCTCCCAGGGACCCTCCATTTTCCATATCCAGGAAA
ATGTGATGCGCCACAGGTATCAGCGTCTGGATCGCCACTTCACGTTTTAGCCACAAGTGACTCA
GTGGAAGATCCAGAGTCAACAGAGGCTCGTCAGGAAGATGTCTACAGAAAAGGTAGACCAAAAG
GAGGAAGCTGGGGAAAAAGAGGTGTGCGGAGACCAGATCAAAGGACCGGACAAAGAGGAGGAAC
CACCAGCTGCTGCATCCCATGGCCAGGGGTGGCGTCCAGGTGGCAGAGCAGCTAGGAACGCAAG
GCCTGAACCTGGGGCCAGACACCCTGCTCTCCCGGCCATGGTCAACGACCCTCCAGTACCTGCC
TTACTGTGGGCCCAGGAGGTGGGCCAAGTCTTGGCAGGCCGTGCCCGCAGGCTGCTGCTGCAGT
TTGGGGTGCTCTTCTGCACCATCCTCCTTTTGCTCTGGGTGTCTGTCTTCCTCTATGGCTCCTT
CTACTATTCCTATATGCCGACAGTCAGCCACCTCAGCCCTGTGCATTTCTACTACAGGACCGAC
TGTGATTCCTCCACCACCTCACTCTGCTCCTTCCCTGTTGCCAATGTCTCGCTGACTAAGGGTG
GACGTGATCGGGTGCTGATGTATGGACAGCCGTATCGTGTTACCTTAGAGCTTGAGCTGCCAGA
GTCCCCTGTGAATCAAGATTTGGGCATGTTCTTGGTCACCATTTCCTGCTACACCAGAGGTGGC
CGAATCATCTCCACTTCTTCGCGTTCGGTGATGCTGCATTACCGCTCAGACCTGCTCCAGATGC
TGGACACACTGGTCTTCTCTAGCCTCCTGCTATTTGGCTTTGCAGAGCAGAAGCAGCTGCTGGA
GGTGGAACTCTACGCAGACTATAGAGAGAACTCGTACGTGCCGACCACTGGAGCGATCATTGAG
ATCCACAGCAAGCGCATCCAGCTGTATGGAGCCTACCTCCGCATCCACGCGCACTTCACTGGGC
TCAGATACCTGCTATACAACTTCCCGATGACCTGCGCCTTCATAGGTGTTGCCAGCAACTTCAC
CTTCCTCAGCGTCATCGTGCTCTTCAGCTACATGCAGTGGGTGTGGGGGGGCATCTGGCCCCGA
CACCGCTTCTCTTTGCAGGTTAACATCCGAAAAAGAGACAATTCCCGGAAGGAAGTCCAACGAA
GGATCTCTGCTCATCAGCCAGGGCCTGAAGGCCAGGAGGAGTCAACTCCGCAATCAGATGTTAC
AGAGGATGGTGAGAGCCCTGAAGATCCCTCAGGGACAGAGGGTCAGCTGTCCGAGGAGGAGAAA
CCAGATCAGCAGCCCCTGAGCGGAGAAGAGGAGCTAGAGCCTGAGGCCAGTGATGGTTCAGGCT
CCTGGGAAGATGCAGCTTTGCTGACGGAGGCCAACCTGCCTGCTCCTGCTCCTGCTTCTGCTTC
TGCCCCTGTCCTAGAGACTCTGGGCAGCTCTGAACCTGCTGGGGGTGCTCTCCGACAGCGCCCC
ACCTGCTCTAGTTCCTGAAGAAAAGGGGCAGACTCCTCACATTCCAGCACTTTCCCACCTGACT
CCTCTCCCCTCGTTTTTCCTTCAATAAACTATTTTGTGTCAGCTTC

hide sequence

RefSeq Acc Id:

NM_001130702 ⟹ NP_001124174

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	62,690,262 - 62,706,315 (-)	NCBI
GRCh37	11	62,457,734 - 62,477,091 (-)	ENTREZGENE
HuRef	11	58,786,515 - 58,805,891 (-)	ENTREZGENE
CHM1_1	11	62,340,845 - 62,356,875 (-)	NCBI
T2T-CHM13v2.0	11	62,679,681 - 62,695,735 (-)	NCBI

Sequence:

show sequence

ACTTCCCCGGGAGCCGGAAGTCCCGTCTCACGGTTGCCCTGGCAGCGCGCGAGGCTGGTGAGTC
GGCAGCCCTGTGGCAGCCGGCGGGCTGGTTTCCATGGTTGCACGATTAGGAACCACCAGCTGCT
GCATCCCATGGCCAGGGGTGGCGTCCAGGTGGCAGAGCAGCTAGGAACGCAAGGCCTGAACCTG
GGGCCAGACACCCTGCTCTCCCGGCCATGGTCAACGACCCTCCAGTACCTGCCTTACTGTGGGC
CCAGGAGGTGGGCCAAGTCTTGGCAGGCCGTGCCCGCAGGCTGCTGCTGCAGTTTGGGGTGCTC
TTCTGCACCATCCTCCTTTTGCTCTGGGTGTCTGTCTTCCTCTATGGCTCCTTCTACTATTCCT
ATATGCCGACAGTCAGCCACCTCAGCCCTGTGCATTTCTACTACAGGACCGACTGTGATTCCTC
CACCACCTCACTCTGCTCCTTCCCTGTTGCCAATGTCTCGCTGACTAAGGGTGGACGTGATCGG
GTGCTGATGTATGGACAGCCGTATCGTGTTACCTTAGAGCTTGAGCTGCCAGAGTCCCCTGTGA
ATCAAGATTTGGGCATGTTCTTGGTCACCATTTCCTGCTACACCAGAGGTGGCCGAATCATCTC
CACTTCTTCGCGTTCGGTGATGCTGCATTACCGCTCAGACCTGCTCCAGATGCTGGACACACTG
GTCTTCTCTAGCCTCCTGCTATTTGGCTTTGCAGAGCAGAAGCAGCTGCTGGAGGTGGAACTCT
ACGCAGACTATAGAGAGAACTCGTACGTGCCGACCACTGGAGCGATCATTGAGATCCACAGCAA
GCGCATCCAGCTGTATGGAGCCTACCTCCGCATCCACGCGCACTTCACTGGGCTCAGGTTAACA
TCCGAAAAAGAGACAATTCCCGGAAGGAAGTCCAACGAAGGATCTCTGCTCATCAGCCAGGGCC
TGAAGGCCAGGAGGAGTCAACTCCGCAATCAGATGTTACAGAGGATGGTGAGAGCCCTGAAGAT
CCCTCAGGGACAGAGGGTCAGCTGTCCGAGGAGGAGAAACCAGATCAGCAGCCCCTGAGCGGAG
AAGAGGAGCTAGAGCCTGAGGCCAGTGATGGTTCAGGCTCCTGGGAAGATGCAGCTTTGCTGAC
GGAGGCCAACCTGCCTGCTCCTGCTCCTGCTTCTGCTTCTGCCCCTGTCCTAGAGACTCTGGGC
AGCTCTGAACCTGCTGGGGGTGCTCTCCGACAGCGCCCCACCTGCTCTAGTTCCTGAAGAAAAG
GGGCAGACTCCTCACATTCCAGCACTTTCCCACCTGACTCCTCTCCCCTCGTTTTTCCTTCAAT
AAACTATTTTGTGTCAGCTTCTTCCTTGACTCTG

hide sequence

RefSeq Acc Id:

NM_001386027 ⟹ NP_001372956

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	62,690,275 - 62,709,537 (-)	NCBI
T2T-CHM13v2.0	11	62,679,694 - 62,698,954 (-)	NCBI

Sequence:

show sequence

AAGCCAAGCTCCGCCCCTACCCTCCTAAGAGTTCCTCTGCTGTACGACTGCACTCCCGCACCCT
CCCCTAAATCCCCCCTCTTCGGCCTGTTTACCTTTTAACTTGGCTTCGTTGCACGTTTGTGTGT
GTGTGTTTGCTCTTCGCAGCCTCTTGAGCGTCTTTTGTACTTAATTCTTACACTGTGGACGCTC
TCTCGCGCCCGCCATCCCCCGACCCCTCTGATCTCCGATCCTTGACGATGTCTAGCCTGCATTG
ATTGGCCCTTTTCCCTGGGTATGGCAGATCTATTGCTTGATGATCCTCTCCCCCCAAGAATTCT
AACACAGGAGCTGTCCTGAGGCTCTGGATGACTTTATTCTTCAAATGGCTTTACCCTCCCAGTA
GCTCCAGGGACCCTCCATTTTCCATATCCAGGAAAATGTGATGCGCCACAGGTATCAGCGTCTG
GATCGCCACTTCACGTTTTAGCCACAAGTGACTCAGTGGAAGATCCAGAGTCAACAGAGGCTCG
TCAGGAAGATGTCTACAGAAAAGGTAGACCAAAAGGAGGAAGCTGGGGAAAAAGAGGTGTGCGG
AGACCAGATCAAAGGACCGGACAAAGAGGAGGAACCACCAGCTGCTGCATCCCATGGCCAGGGG
TGGCGTCCAGGTGGCAGAGCAGCTAGGAACGCAAGGCCTGAACCTGGGGCCAGACACCCTGCTC
TCCCGGCCATGGTCAACGACCCTCCAGTACCTGCCTTACTGTGGGCCCAGGAGGTGGGCCAAGT
CTTGGCAGGCCGTGCCCGCAGGCTGCTGCTGCAGTTTGGGGTGCTCTTCTGCACCATCCTCCTT
TTGCTCTGGGTGTCTGTCTTCCTCTATGGCTCCTTCTACTATTCCTATATGCCGACAGTCAGCC
ACCTCAGCCCTGTGCATTTCTACTACAGGACCGACTGTGATTCCTCCACCACCTCACTCTGCTC
CTTCCCTGTTGCCAATGTCTCGCTGACTAAGGGTGGACGTGATCGGGTGCTGATGTATGGACAG
CCGTATCGTGTTACCTTAGAGCTTGAGCTGCCAGAGTCCCCTGTGAATCAAGATTTGGGCATGT
TCTTGGTCACCATTTCCTGCTACACCAGAGGTGGCCGAATCATCTCCACTTCTTCGCGTTCGGT
GATGCTGCATTACCGCTCAGACCTGCTCCAGATGCTGGACACACTGGTCTTCTCTAGCCTCCTG
CTATTTGGCTTTGCAGAGCAGAAGCAGCTGCTGGAGGTGGAACTCTACGCAGACTATAGAGAGA
ACTCGTACGTGCCGACCACTGGAGCGATCATTGAGATCCACAGCAAGCGCATCCAGCTGTATGG
AGCCTACCTCCGCATCCACGCGCACTTCACTGGGCTCAGATACCTGCTATACAACTTCCCGATG
ACCTGCGCCTTCATAGGTGTTGCCAGCAACTTCACCTTCCTCAGCGTCATCGTGCTCTTCAGCT
ACATGCAGTGGGTGTGGGGGGGCATCTGGCCCCGACACCGCTTCTCTTTGCAGGTTAACATCCG
AAAAAGAGACAATTCCCGGAAGGAAGTCCAACGAAGGATCTCTGCTCATCAGCCAGGTGCAGGG
CCTGAAGGCCAGGAGGAGTCAACTCCGCAATCAGATGTTACAGAGGATGGTGAGAGCCCTGAAG
ATCCCTCAGGGACAGAGGGTCAGCTGTCCGAGGAGGAGAAACCAGATCAGCAGCCCCTGAGCGG
AGAAGAGGAGCTAGAGCCTGAGGCCAGTGATGGTTCAGGCTCCTGGGAAGATGCAGCTTTGCTG
ACGGAGGCCAACCTGCCTGCTCCTGCTCCTGCTTCTGCTTCTGCCCCTGTCCTAGAGACTCTGG
GCAGCTCTGAACCTGCTGGGGGTGCTCTCCGACAGCGCCCCACCTGCTCTAGTTCCTGAAGAAA
AGGGGCAGACTCCTCACATTCCAGCACTTTCCCACCTGACTCCTCTCCCCTCGTTTTTCCTTCA
ATAAACTATTTTGTGTCAGCTTC

hide sequence

RefSeq Acc Id:

NM_001386028 ⟹ NP_001372957

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	62,690,275 - 62,709,537 (-)	NCBI
T2T-CHM13v2.0	11	62,679,694 - 62,698,954 (-)	NCBI

Sequence:

show sequence

AAGCCAAGCTCCGCCCCTACCCTCCTAAGAGTTCCTCTGCTGTACGACTGCACTCCCGCACCCT
CCCCTAAATCCCCCCTCTTCGGCCTGTTTACCTTTTAACTTGGCTTCGTTGCACGTTTGTGTGT
GTGTGTTTGCTCTTCGCAGCCTCTTGAGCGTCTTTTGTACTTAATTCTTACACTGTGGACGCTC
TCTCGCGCCCGCCATCCCCCGACCCCTCTGATCTCCGATCCTTGACGATGTCTAGCCTGCATTG
ATTGGCCCTTTTCCCTGGGTATGGCAGATCTATTGCTTGATGATCCTCTCCCCCCAAGAATTCT
AACACAGGAGCTGTCCTGAGGCTCTGGATGACTTTATTCTTCAAATGGCTTTACCCTCCCAGTA
GCTCCAGGGACCCTCCATTTTCCATATCCAGGAAAATGTGATGCGCCACAGGTATCAGCGTCTG
GATCGCCACTTCACGTTTTAGCCACAAGTGACTCAGTGGAAGATCCAGAGTCAACAGAGGCTCG
TCAGGAAGATGTCTACAGAAAAGGTAGACCAAAAGGAGGAAGCTGGGGAAAAAGAGGTGTGCGG
AGACCAGATCAAAGGACCGGACAAAGAGGAGGAACCACCAGCTGCTGCATCCCATGGCCAGGGG
TGGCGTCCAGGTGGCAGAGCAGCTAGGAACGCAAGGCCTGAACCTGGGGCCAGACACCCTGCTC
TCCCGGCCATGGTCAACGACCCTCCAGTACCTGCCTTACTGTGGGCCCAGGAGGTGGGCCAAGT
CTTGGCAGGCCGTGCCCGCAGGCTGCTGCTGCAGTTTGGGGTGCTCTTCTGCACCATCCTCCTT
TTGCTCTGGGTGTCTGTCTTCCTCTATGGCTCCTTCTACTATTCCTATATGCCGACAGTCAGCC
ACCTCAGCCCTGTGCATTTCTACTACAGGACCGACTGTGATTCCTCCACCACCTCACTCTGCTC
CTTCCCTGTTGCCAATGTCTCGCTGACTAAGGGTGGACGTGATCGGGTGCTGATGTATGGACAG
CCGTATCGTGTTACCTTAGAGCTTGAGCTGCCAGAGTCCCCTGTGAATCAAGATTTGGGCATGT
TCTTGGTCACCATTTCCTGCTACACCAGAGGTGGCCGAATCATCTCCACTTCTTCGCGTTCGGT
GATGCTGCATTACCGCTCAGACCTGCTCCAGATGCTGGACACACTGGTCTTCTCTAGCCTCCTG
CTATTTGGCTTTGCAGAGCAGAAGCAGCTGCTGGAGGTGGAACTCTACGCAGACTATAGAGAGA
ACTCGTACGTGCCGACCACTGGAGCGATCATTGAGATCCACAGCAAGCGCATCCAGCTGTATGG
AGCCTACCTCCGCATCCACGCGCACTTCACTGGGCTCAGATACCTGCTATACAACTTCCCGATG
ACCTGCGCCTTCATAGGTGTTGCCAGCAACTTCACCTTCCTCAGCGTCATCGTGCTCTTCAGCT
ACATGCAGTGGGTGTGGGGGGGCATCTGGCCCCGACACCGCTTCTCTTTGCAGGTTAACATCCG
AAAAAGAGACAATTCCCGGAAGGAAGTCCAACGAAGGATCTCTGCTCATCAGCCAGGGCCTGAA
GGCCAGGAGGAGTCAACTCCGCAATCAGATGTTACAGAGGATGGTGAGAGCCCTGAAGATCCCT
CAGGGACAGAGGGTCAGCTGTCCGAGGAGGAGAAACCAGATCAGCAGCCCCTGAGCGGAGAAGA
GGAGCTAGAGCCTGAGGCCAGTGATGGTTCAGGCTCCTGGGAAGATGCAGCTTTGCTGACGGAG
GCCAACCTGCCTGCTCCTGCTCCTGCTTCTGCTTCTGCCCCTGTCCTAGAGACTCTGGGCAGCT
CTGAACCTGCTGGGGGTGCTCTCCGACAGCGCCCCACCTGCTCTAGTTCCTGAAGAAAAGGGGC
AGACTCCTCACATTCCAGCACTTTCCCACCTGACTCCTCTCCCCTCGTTTTTCCTTCAATAAAC
TATTTTGTGTCAGCTTC

hide sequence

RefSeq Acc Id:

NM_032667 ⟹ NP_116056

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	62,690,262 - 62,706,315 (-)	NCBI
GRCh37	11	62,457,734 - 62,477,091 (-)	ENTREZGENE
Build 36	11	62,214,323 - 62,231,395 (-)	NCBI Archive
HuRef	11	58,786,515 - 58,805,891 (-)	ENTREZGENE
CHM1_1	11	62,340,845 - 62,356,875 (-)	NCBI
T2T-CHM13v2.0	11	62,679,681 - 62,695,735 (-)	NCBI

Sequence:

show sequence

ACTTCCCCGGGAGCCGGAAGTCCCGTCTCACGGTTGCCCTGGCAGCGCGCGAGGCTGGTGAGTC
GGCAGCCCTGTGGCAGCCGGCGGGCTGGTTTCCATGGTTGCACGATTAGGAACCACCAGCTGCT
GCATCCCATGGCCAGGGGTGGCGTCCAGGTGGCAGAGCAGCTAGGAACGCAAGGCCTGAACCTG
GGGCCAGACACCCTGCTCTCCCGGCCATGGTCAACGACCCTCCAGTACCTGCCTTACTGTGGGC
CCAGGAGGTGGGCCAAGTCTTGGCAGGCCGTGCCCGCAGGCTGCTGCTGCAGTTTGGGGTGCTC
TTCTGCACCATCCTCCTTTTGCTCTGGGTGTCTGTCTTCCTCTATGGCTCCTTCTACTATTCCT
ATATGCCGACAGTCAGCCACCTCAGCCCTGTGCATTTCTACTACAGGACCGACTGTGATTCCTC
CACCACCTCACTCTGCTCCTTCCCTGTTGCCAATGTCTCGCTGACTAAGGGTGGACGTGATCGG
GTGCTGATGTATGGACAGCCGTATCGTGTTACCTTAGAGCTTGAGCTGCCAGAGTCCCCTGTGA
ATCAAGATTTGGGCATGTTCTTGGTCACCATTTCCTGCTACACCAGAGGTGGCCGAATCATCTC
CACTTCTTCGCGTTCGGTGATGCTGCATTACCGCTCAGACCTGCTCCAGATGCTGGACACACTG
GTCTTCTCTAGCCTCCTGCTATTTGGCTTTGCAGAGCAGAAGCAGCTGCTGGAGGTGGAACTCT
ACGCAGACTATAGAGAGAACTCGTACGTGCCGACCACTGGAGCGATCATTGAGATCCACAGCAA
GCGCATCCAGCTGTATGGAGCCTACCTCCGCATCCACGCGCACTTCACTGGGCTCAGATACCTG
CTATACAACTTCCCGATGACCTGCGCCTTCATAGGTGTTGCCAGCAACTTCACCTTCCTCAGCG
TCATCGTGCTCTTCAGCTACATGCAGTGGGTGTGGGGGGGCATCTGGCCCCGACACCGCTTCTC
TTTGCAGGTTAACATCCGAAAAAGAGACAATTCCCGGAAGGAAGTCCAACGAAGGATCTCTGCT
CATCAGCCAGGGCCTGAAGGCCAGGAGGAGTCAACTCCGCAATCAGATGTTACAGAGGATGGTG
AGAGCCCTGAAGATCCCTCAGGGACAGAGGGTCAGCTGTCCGAGGAGGAGAAACCAGATCAGCA
GCCCCTGAGCGGAGAAGAGGAGCTAGAGCCTGAGGCCAGTGATGGTTCAGGCTCCTGGGAAGAT
GCAGCTTTGCTGACGGAGGCCAACCTGCCTGCTCCTGCTCCTGCTTCTGCTTCTGCCCCTGTCC
TAGAGACTCTGGGCAGCTCTGAACCTGCTGGGGGTGCTCTCCGACAGCGCCCCACCTGCTCTAG
TTCCTGAAGAAAAGGGGCAGACTCCTCACATTCCAGCACTTTCCCACCTGACTCCTCTCCCCTC
GTTTTTCCTTCAATAAACTATTTTGTGTCAGCTTCTTCCTTGACTCTG

hide 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:	show sequence MSTEKVDQKEEAGEKEVCGDQIKGPDKEEEPPAAASHGQGWRPGGRAARNARPEPGARHPALPA MVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLS PVHFYYRTDCDSSTTSLCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVNQDLGMFLV TISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQKQLLEVELYADYRENSY VPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVASNFTFLSVIVLFSYMQ WVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEESTPQSDVTEDGESPEDPSGT EGQLSEEEKPDQQPLSGEEELEPEASDGSGSWEDAALLTEANLPAPAPASASAPVLETLGSSEP AGGALRQRPTCSSS hide sequence

RefSeq Acc Id:	NP_001124174 ⟸ NM_001130702
- Peptide Label:	isoform 3
- UniProtKB:	Q96G97 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLS PVHFYYRTDCDSSTTSLCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVNQDLGMFLV TISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQKQLLEVELYADYRENSY VPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRLTSEKETIPGRKSNEGSLLISQGLKARRSQLR NQMLQRMVRALKIPQGQRVSCPRRRNQISSP hide sequence

RefSeq Acc Id:	NP_116056 ⟸ NM_032667
- Peptide Label:	isoform 2
- UniProtKB:	Q96G97 (UniProtKB/Swiss-Prot), Q96SV1 (UniProtKB/Swiss-Prot), Q567S1 (UniProtKB/Swiss-Prot), G3XAE4 (UniProtKB/Swiss-Prot), Q9BSQ0 (UniProtKB/Swiss-Prot), Q53EN3 (UniProtKB/TrEMBL), A0A024R549 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLS PVHFYYRTDCDSSTTSLCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVNQDLGMFLV TISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQKQLLEVELYADYRENSY VPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVASNFTFLSVIVLFSYMQ WVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEESTPQSDVTEDGESPEDPSGT EGQLSEEEKPDQQPLSGEEELEPEASDGSGSWEDAALLTEANLPAPAPASASAPVLETLGSSEP AGGALRQRPTCSSS hide sequence

Ensembl Acc Id:

ENSP00000431782 ⟸ ENST00000464544

Ensembl Acc Id:

ENSP00000435500 ⟸ ENST00000530009

Ensembl Acc Id:

ENSP00000393728 ⟸ ENST00000413908

Ensembl Acc Id:

ENSP00000436026 ⟸ ENST00000531524

Ensembl Acc Id:

ENSP00000354032 ⟸ ENST00000360796

Ensembl Acc Id:

ENSP00000435831 ⟸ ENST00000532818

Ensembl Acc Id:

ENSP00000434149 ⟸ ENST00000533982

Ensembl Acc Id:

ENSP00000385561 ⟸ ENST00000403550

Ensembl Acc Id:

ENSP00000384258 ⟸ ENST00000403098

Ensembl Acc Id:

ENSP00000385332 ⟸ ENST00000405837

Ensembl Acc Id:

ENSP00000433888 ⟸ ENST00000524862

Ensembl Acc Id:

ENSP00000384080 ⟸ ENST00000407022

Ensembl Acc Id:

ENSP00000437044 ⟸ ENST00000525000

Ensembl Acc Id:

ENSP00000301781 ⟸ ENST00000301781

Ensembl Acc Id:

ENSP00000413340 ⟸ ENST00000448568

Ensembl Acc Id:

ENSP00000278893 ⟸ ENST00000278893

Ensembl Acc Id:

ENSP00000413209 ⟸ ENST00000421906

Ensembl Acc Id:

ENSP00000436991 ⟸ ENST00000528874

Ensembl Acc Id:

ENSP00000405265 ⟸ ENST00000449636

RefSeq Acc Id:	NP_001372957 ⟸ NM_001386028
- Peptide Label:	isoform 1
- UniProtKB:	A0A804HK11 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001372956 ⟸ NM_001386027
- Peptide Label:	isoform 4
- UniProtKB:	J3KQ12 (UniProtKB/TrEMBL), A0A024R541 (UniProtKB/TrEMBL), A0A804HK11 (UniProtKB/TrEMBL)

Ensembl Acc Id:

ENSP00000505838 ⟸ ENST00000679883

Ensembl Acc Id:

ENSP00000507103 ⟸ ENST00000682262

Ensembl Acc Id:

ENSP00000508140 ⟸ ENST00000682223

Ensembl Acc Id:

ENSP00000507814 ⟸ ENST00000682555

Ensembl Acc Id:

ENSP00000507669 ⟸ ENST00000684285

Ensembl Acc Id:

ENSP00000506799 ⟸ ENST00000684067

Ensembl Acc Id:

ENSP00000507028 ⟸ ENST00000683025

Ensembl Acc Id:

ENSP00000507429 ⟸ ENST00000684475

Ensembl Acc Id:

ENSP00000507725 ⟸ ENST00000683296

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q96G97-F1-model_v2	AlphaFold	Q96G97	1-398	view protein structure

Promoters

RGD ID:

6788527

Promoter ID:

HG_KWN:13125

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

OTTHUMT00000319195

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	62,230,151 - 62,230,651 (-)	MPROMDB

RGD ID:

6788802

Promoter ID:

HG_KWN:13126

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000403098, ENST00000403734, OTTHUMT00000319184, OTTHUMT00000319187, UC001NUO.1, UC001NUQ.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	62,230,161 - 62,230,661 (-)	MPROMDB

RGD ID:

6788528

Promoter ID:

HG_KWN:13127

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

NM_001122955, OTTHUMT00000319181, OTTHUMT00000319189, UC001NUS.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	62,231,676 - 62,232,772 (-)	MPROMDB

RGD ID:

6788529

Promoter ID:

HG_KWN:13129

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

NM_001130702, OTTHUMT00000319188, UC001NUT.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	62,233,556 - 62,234,377 (-)	MPROMDB

RGD ID:

7220687

Promoter ID:

EPDNEW_H16090

Type:

initiation region

Name:

BSCL2_4

Description:

BSCL2, seipin lipid droplet biogenesis associated

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H16091 EPDNEW_H16093 EPDNEW_H16096

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	62,691,073 - 62,691,133	EPDNEW

RGD ID:

7220691

Promoter ID:

EPDNEW_H16091

Type:

initiation region

Name:

BSCL2_1

Description:

BSCL2, seipin lipid droplet biogenesis associated

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H16090 EPDNEW_H16093 EPDNEW_H16096

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	62,706,315 - 62,706,375	EPDNEW

RGD ID:

7220695

Promoter ID:

EPDNEW_H16093

Type:

initiation region

Name:

BSCL2_3

Description:

BSCL2, seipin lipid droplet biogenesis associated

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H16090 EPDNEW_H16091 EPDNEW_H16096

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	62,707,424 - 62,707,484	EPDNEW

RGD ID:

7220699

Promoter ID:

EPDNEW_H16096

Type:

initiation region

Name:

BSCL2_2

Description:

BSCL2, seipin lipid droplet biogenesis associated

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H16090 EPDNEW_H16091 EPDNEW_H16093

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	62,709,536 - 62,709,596	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:15832	AgrOrtholog
COSMIC	BSCL2	COSMIC
Ensembl Genes	ENSG00000168000	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000278893	ENTREZGENE
	ENST00000278893.11	UniProtKB/Swiss-Prot
	ENST00000301781.10	UniProtKB/TrEMBL
	ENST00000360796	ENTREZGENE
	ENST00000360796.10	UniProtKB/Swiss-Prot
	ENST00000403098.6	UniProtKB/TrEMBL
	ENST00000403550.5	UniProtKB/Swiss-Prot
	ENST00000405837	ENTREZGENE
	ENST00000405837.5	UniProtKB/TrEMBL
	ENST00000407022	ENTREZGENE
	ENST00000407022.7	UniProtKB/Swiss-Prot
	ENST00000413908.1	UniProtKB/TrEMBL
	ENST00000421906.5	UniProtKB/Swiss-Prot
	ENST00000448568.6	UniProtKB/TrEMBL
	ENST00000449636.6	UniProtKB/TrEMBL
	ENST00000464544.1	UniProtKB/TrEMBL
	ENST00000524862	UniProtKB/TrEMBL
	ENST00000524862.6	UniProtKB/Swiss-Prot
	ENST00000528874.1	UniProtKB/TrEMBL
	ENST00000530009.1	UniProtKB/TrEMBL
	ENST00000531524.5	UniProtKB/TrEMBL
	ENST00000532818.5	UniProtKB/TrEMBL
	ENST00000533982.1	UniProtKB/TrEMBL
	ENST00000679883	ENTREZGENE
	ENST00000679883.1	UniProtKB/Swiss-Prot
	ENST00000682223.1	UniProtKB/TrEMBL
	ENST00000682262.1	UniProtKB/TrEMBL
	ENST00000682555.1	UniProtKB/TrEMBL
	ENST00000683025.1	UniProtKB/TrEMBL
	ENST00000683296.1	UniProtKB/TrEMBL
	ENST00000684067.1	UniProtKB/TrEMBL
	ENST00000684285.1	UniProtKB/TrEMBL
	ENST00000684475.1	UniProtKB/TrEMBL
GTEx	ENSG00000168000	GTEx
HGNC ID	HGNC:15832	ENTREZGENE
Human Proteome Map	BSCL2	Human Proteome Map
InterPro	Seipin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:26580	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	26580	ENTREZGENE
OMIM	606158	OMIM
PANTHER	PTHR21212	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SEIPIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Seipin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA25432	PharmGKB
UniProt	A0A024R541	ENTREZGENE
	A0A024R549	ENTREZGENE, UniProtKB/TrEMBL
	A0A0S2Z544_HUMAN	UniProtKB/TrEMBL
	A0A804HHX0_HUMAN	UniProtKB/TrEMBL
	A0A804HIE2_HUMAN	UniProtKB/TrEMBL
	A0A804HIJ7_HUMAN	UniProtKB/TrEMBL
	A0A804HJB1_HUMAN	UniProtKB/TrEMBL
	A0A804HJW1_HUMAN	UniProtKB/TrEMBL
	A0A804HK11	ENTREZGENE, UniProtKB/TrEMBL
	A0A804HK83_HUMAN	UniProtKB/TrEMBL
	A0A804HKZ9_HUMAN	UniProtKB/TrEMBL
	B1PWS6_HUMAN	UniProtKB/TrEMBL
	BSCL2_HUMAN	UniProtKB/Swiss-Prot
	E9PIU3_HUMAN	UniProtKB/TrEMBL
	E9PJK0_HUMAN	UniProtKB/TrEMBL
	E9PJS9_HUMAN	UniProtKB/TrEMBL
	E9PPN5_HUMAN	UniProtKB/TrEMBL
	E9PR78_HUMAN	UniProtKB/TrEMBL
	E9PRU2_HUMAN	UniProtKB/TrEMBL
	E9PSB5_HUMAN	UniProtKB/TrEMBL
	F8W7Q8_HUMAN	UniProtKB/TrEMBL
	F8WER0_HUMAN	UniProtKB/TrEMBL
	G3XAE4	ENTREZGENE
	H7BXM1_HUMAN	UniProtKB/TrEMBL
	H7BYY0_HUMAN	UniProtKB/TrEMBL
	H7C2D5_HUMAN	UniProtKB/TrEMBL
	J3KQ12	ENTREZGENE, UniProtKB/TrEMBL
	Q53EN3	ENTREZGENE, UniProtKB/TrEMBL
	Q567S1	ENTREZGENE
	Q96G97	ENTREZGENE
	Q96SV1	ENTREZGENE
	Q9BSQ0	ENTREZGENE
UniProt Secondary	A0A024R541	UniProtKB/TrEMBL
	G3XAE4	UniProtKB/Swiss-Prot
	Q567S1	UniProtKB/Swiss-Prot
	Q96SV1	UniProtKB/Swiss-Prot
	Q9BSQ0	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-01-29	BSCL2	BSCL2 lipid droplet biogenesis associated, seipin		BSCL2, seipin lipid droplet biogenesis associated	Symbol and/or name change	5135510	APPROVED
2016-05-31	BSCL2	BSCL2, seipin lipid droplet biogenesis associated		Berardinelli-Seip congenital lipodystrophy 2 (seipin)	Symbol and/or name change	5135510	APPROVED
2016-03-09	BSCL2	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	SPG17	spastic paraplegia 17 (Silver syndrome)	Data merged from RGD:1344469	737654	PROVISIONAL

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - MGI

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