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Gene: ATL1 (atlastin GTPase 1) Homo sapiens

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Symbol:

ATL1

Name:

atlastin GTPase 1

RGD ID:

1352093

HGNC Page

HGNC:11231

Description:

Enables GTPase activity and identical protein binding activity. Involved in endoplasmic reticulum tubular network membrane organization and protein homooligomerization. Located in endoplasmic reticulum tubular network membrane. Implicated in hereditary sensory neuropathy type 1D and hereditary spastic paraplegia 3A.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

AD-FSP; atlastin-1; atlastin1; brain-specific GTP-binding protein; FSP1; GBP-3; GBP3; GTP-binding protein 3; guanine nucleotide-binding protein 3; guanylate-binding protein 3; hGBP3; HSN1D; spastic paraplegia 3 protein A; SPG3; SPG3A

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Atl1 (atlastin GTPase 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Atl1 (atlastin GTPase 1)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB
Chinchilla lanigera (long-tailed chinchilla):	Atl1 (atlastin GTPase 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	ATL1 (atlastin GTPase 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	ATL1 (atlastin GTPase 1)	HGNC	EggNOG, Ensembl, HomoloGene, NCBI, OMA, OrthoDB, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Atl1 (atlastin GTPase 1)	NCBI	Ortholog
Sus scrofa (pig):	ATL1 (atlastin GTPase 1)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	ATL1 (atlastin GTPase 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Atl1 (atlastin GTPase 1)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Atl2 (atlastin GTPase 2)	HGNC	OrthoMCL
Mus musculus (house mouse):	Atl3 (atlastin GTPase 3)	HGNC	OrthoMCL
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Atl1 (atlastin GTPase 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Atl1 (atlastin GTPase 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	atl1 (atlastin GTPase 1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	atl	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	atln-1	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	atl1.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	atl1	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	atl1.S	Alliance	DIOPT (Xenbase)

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	14	50,533,082 - 50,633,068 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	50,532,509 - 50,634,017 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	14	50,999,800 - 51,099,786 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	50,096,500 - 50,169,141 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	14	50,096,513 - 50,169,532	NCBI
Celera	14	30,866,848 - 30,966,813 (+)	NCBI		Celera
Cytogenetic Map	14	q22.1	NCBI
HuRef	14	31,125,093 - 31,225,360 (+)	NCBI		HuRef
CHM1_1	14	50,938,361 - 51,038,328 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	14	44,738,771 - 44,839,213 (+)	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

Charcot-Marie-Tooth disease (IAGP)

genetic disease (IAGP)

hereditary sensory neuropathy type 1D (IAGP)

hereditary spastic paraplegia (IAGP)

hereditary spastic paraplegia 10 (IAGP)

hereditary spastic paraplegia 3A (EXP,IAGP)

Lingual Thyroids (IAGP)

Nervous System Malformations (IAGP)

Noonan syndrome 9 (IAGP)

paraplegia (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (EXP)

1,1-dichloroethene (ISO)

1,2-dimethylhydrazine (ISO)

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

aflatoxin B1 (EXP)

aldehydo-D-glucose (ISO)

aldrin (ISO)

all-trans-retinoic acid (EXP)

antirheumatic drug (EXP)

benzo[a]pyrene (EXP,ISO)

beta-lapachone (EXP)

bisphenol A (EXP,ISO)

cefaloridine (ISO)

chlormequat chloride (ISO)

chloroethene (ISO)

chlorpyrifos (ISO)

chromium(6+) (EXP)

cobalt atom (EXP)

cyclosporin A (EXP,ISO)

cytarabine (EXP)

D-glucose (ISO)

Dibutyl phosphate (EXP)

dioxygen (ISO)

dorsomorphin (EXP)

endosulfan (ISO)

entinostat (EXP)

ethanol (ISO)

fenamidone (ISO)

folic acid (ISO)

FR900359 (EXP)

fulvestrant (EXP)

gentamycin (ISO)

glucose (ISO)

ivermectin (EXP)

lead diacetate (EXP)

lead(0) (EXP)

methoxychlor (ISO)

nickel sulfate (EXP)

O-methyleugenol (EXP)

paracetamol (ISO)

phenobarbital (ISO)

PhIP (EXP)

pirinixic acid (ISO)

potassium chromate (EXP)

potassium dichromate (ISO)

propionic acid (EXP)

quercetin (EXP)

SB 431542 (EXP)

sodium arsenite (EXP)

sunitinib (EXP)

testosterone (EXP)

thioacetamide (ISO)

trichostatin A (EXP)

triphenyl phosphate (EXP)

triptonide (ISO)

Tungsten carbide (EXP)

valproic acid (EXP,ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

axonogenesis (IEA,ISS)

endoplasmic reticulum organization (IBA,IDA)

endoplasmic reticulum tubular network membrane organization (IMP)

protein homooligomerization (IBA,IDA)

Cellular Component

axon (IEA)

cell projection (IEA)

cytoplasm (IEA)

endoplasmic reticulum (IDA,IEA)

endoplasmic reticulum membrane (IEA,ISS)

endoplasmic reticulum tubular network (IEA,ISS)

endoplasmic reticulum tubular network membrane (IDA)

Golgi apparatus (IEA,ISS)

Golgi cis cisterna (IEA,ISS)

Golgi membrane (IEA)

membrane (IDA,IEA)

Molecular Function

GTP binding (IBA,IEA,ISS)

GTPase activity (IBA,IDA,IEA)

hydrolase activity (IEA)

identical protein binding (IDA,IPI)

protein binding (IPI)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal pyramidal sign (IAGP)

Abnormality of the autonomic nervous system (IAGP)

Abnormality of the nervous system (IAGP)

Accessory ectopic thyroid tissue (IAGP)

Ankle clonus (IAGP)

Autoamputation of digits (IAGP)

Autosomal dominant inheritance (IAGP)

Babinski sign (IAGP)

Bradykinesia (IAGP)

Cough (IAGP)

Decreased amplitude of sensory action potentials (IAGP)

Degeneration of the lateral corticospinal tracts (IAGP)

Distal amyotrophy (IAGP)

Distal lower limb amyotrophy (IAGP)

Distal lower limb muscle weakness (IAGP)

Distal muscle weakness (IAGP)

Distal sensory impairment (IAGP)

Distal sensory impairment of all modalities (IAGP)

Dysarthria (IAGP)

EMG: slow motor conduction (IAGP)

Foot dorsiflexor weakness (IAGP)

Frequent falls (IAGP)

Gait disturbance (IAGP)

Gait imbalance (IAGP)

Gastroesophageal reflux (IAGP)

Growth delay (IAGP)

Hearing impairment (IAGP)

Hyperesthesia (IAGP)

Hyperkeratosis (IAGP)

Hyperreflexia (IAGP)

Hypohidrosis or hyperhidrosis (IAGP)

Hypoplasia of the corpus callosum (IAGP)

Impaired ability to dress oneself (IAGP)

Impaired distal tactile sensation (IAGP)

Impaired temperature sensation (IAGP)

Impaired vibration sensation in the lower limbs (IAGP)

Impaired vibratory sensation (IAGP)

Inability to walk (IAGP)

Insidious onset (IAGP)

Intellectual disability, mild (IAGP)

Juvenile onset (IAGP)

Limb pain (IAGP)

Lingual thyroid (IAGP)

Lower limb hyperreflexia (IAGP)

Lower limb hypertonia (IAGP)

Lower limb muscle weakness (IAGP)

Lower limb spasticity (IAGP)

Motor axonal neuropathy (IAGP)

Motor delay (IAGP)

Muscle weakness (IAGP)

Nail dystrophy (IAGP)

Neurodevelopmental delay (IAGP)

Neuropathic arthropathy (IAGP)

Osteomyelitis (IAGP)

Osteomyelitis leading to amputation due to slow healing fractures (IAGP)

Pain insensitivity (IAGP)

Paraplegia (IAGP)

Paresthesia (IAGP)

Pathologic fracture (IAGP)

Penetrating foot ulcers (IAGP)

Peripheral axonal neuropathy (IAGP)

Peripheral neuropathy (IAGP)

Pes cavus (IAGP)

Poor wound healing (IAGP)

Progressive (IAGP)

Rigidity (IAGP)

Scoliosis (IAGP)

Skin ulcer (IAGP)

Spastic gait (IAGP)

Spastic paraplegia (IAGP)

Steppage gait (IAGP)

Tip-toe gait (IAGP)

Trophic changes related to pain (IAGP)

Typified by incomplete penetrance (IAGP)

Urinary bladder sphincter dysfunction (IAGP)

Urinary incontinence (IAGP)

Urinary urgency (IAGP)

Variable expressivity (IAGP)

Young adult onset (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
3.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
5.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:7825576	PMID:8125298	PMID:8252041	PMID:8619474	PMID:9110174	PMID:11685207	PMID:12112092	PMID:12477932	PMID:12499504	PMID:12508121	PMID:12939451	PMID:14506257
PMID:14607301	PMID:14695538	PMID:15184642	PMID:15477516	PMID:15489334	PMID:15517445	PMID:15596607	PMID:15742100	PMID:16339213	PMID:16344560	PMID:16401858	PMID:16533974
PMID:16815977	PMID:17321752	PMID:17380240	PMID:17420921	PMID:17427918	PMID:17502470	PMID:17531128	PMID:18446315	PMID:18644145	PMID:18664244	PMID:19423133	PMID:19459885
PMID:19573020	PMID:19652243	PMID:19665976	PMID:19724895	PMID:19730024	PMID:19735987	PMID:19768483	PMID:19851296	PMID:20125193	PMID:20198315	PMID:20200447	PMID:20301682
PMID:20718791	PMID:20862796	PMID:20932283	PMID:21194679	PMID:21220294	PMID:21321493	PMID:21368113	PMID:21873635	PMID:21930898	PMID:22340599	PMID:22508509	PMID:22802620
PMID:23079343	PMID:23108492	PMID:23233086	PMID:23334294	PMID:23684613	PMID:23969831	PMID:24347629	PMID:24473461	PMID:24925725	PMID:25407413	PMID:25454648	PMID:25555915
PMID:25751282	PMID:25761634	PMID:25773277	PMID:25921289	PMID:26208798	PMID:26600529	PMID:26671083	PMID:26871637	PMID:26888483	PMID:27084228	PMID:27619977	PMID:28240257
PMID:28356327	PMID:28736820	PMID:29180619	PMID:29395067	PMID:29907907	PMID:30194290	PMID:30249723	PMID:30498943	PMID:31056421	PMID:31091453	PMID:31177093	PMID:31239341
PMID:31594988	PMID:31729196	PMID:32788342	PMID:32814053	PMID:32877691	PMID:32916628	PMID:33961781	PMID:34015694	PMID:34079125	PMID:34432599	PMID:34546351	PMID:34556534
PMID:34672954	PMID:34808209	PMID:34817557	PMID:35063084	PMID:35271311	PMID:35788923	PMID:35925862	PMID:36215168	PMID:36537231	PMID:36634849	PMID:36717793	PMID:37633973
PMID:37848823	PMID:37927245	PMID:37931956	PMID:38206305	PMID:38301888	PMID:38851544	PMID:39003427

Genomics

Comparative Map Data

ATL1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	14	50,533,082 - 50,633,068 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	50,532,509 - 50,634,017 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	14	50,999,800 - 51,099,786 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	50,096,500 - 50,169,141 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	14	50,096,513 - 50,169,532	NCBI
Celera	14	30,866,848 - 30,966,813 (+)	NCBI		Celera
Cytogenetic Map	14	q22.1	NCBI
HuRef	14	31,125,093 - 31,225,360 (+)	NCBI		HuRef
CHM1_1	14	50,938,361 - 51,038,328 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	14	44,738,771 - 44,839,213 (+)	NCBI		T2T-CHM13v2.0

Atl1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	12	69,939,879 - 70,010,859 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	12	69,939,388 - 70,013,191 (+)	Ensembl		GRCm39 Ensembl
GRCm38	12	69,893,105 - 69,964,085 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	12	69,892,614 - 69,966,417 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	12	70,994,092 - 71,065,072 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	12	70,811,874 - 70,882,636 (+)	NCBI		MGSCv36	mm8
Celera	12	70,995,246 - 71,065,809 (+)	NCBI		Celera
Cytogenetic Map	12	C2	NCBI
cM Map	12	28.94	NCBI

Atl1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	6	94,113,149 - 94,210,955 (+)	NCBI		GRCr8
mRatBN7.2	6	88,377,168 - 88,475,242 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	6	88,377,239 - 88,475,204 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	6	88,776,280 - 88,874,678 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	6	89,075,744 - 89,174,141 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	6	88,515,269 - 88,613,657 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	6	92,229,764 - 92,370,428 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	6	92,229,686 - 92,370,421 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	6	101,678,899 - 101,819,542 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	6	91,979,260 - 92,077,664 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	6	91,982,715 - 92,081,117 (+)	NCBI
Celera	6	86,872,333 - 86,970,392 (+)	NCBI		Celera
Cytogenetic Map	6	q24	NCBI

Atl1
(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_004955409	12,222,591 - 12,301,990 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955409	12,222,591 - 12,301,990 (-)	NCBI	ChiLan1.0	ChiLan1.0

ATL1
(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	15	51,671,566 - 51,771,723 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	14	50,888,068 - 50,988,225 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	14	31,122,551 - 31,222,537 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	14	49,452,923 - 49,524,726 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	14	49,476,733 - 49,524,392 (+)	Ensembl	panpan1.1		panPan2

ATL1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	8	26,959,697 - 27,034,190 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	8	26,959,749 - 27,120,114 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	8	26,713,517 - 26,787,530 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	8	27,137,404 - 27,211,811 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	8	27,137,277 - 27,298,300 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	8	26,792,383 - 26,867,330 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	8	26,866,362 - 26,940,439 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	8	27,183,761 - 27,284,853 (+)	NCBI		UU_Cfam_GSD_1.0

Atl1
(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_024408640	59,138,464 - 59,207,351 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936495	14,984,336 - 15,040,597 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936495	14,984,761 - 15,053,188 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ATL1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	180,299,256 - 180,405,837 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	180,299,434 - 180,407,003 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	200,606,921 - 200,696,179 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ATL1
(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	24	27,631,488 - 27,709,669 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	24	27,631,632 - 27,708,962 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666053	15,920,966 - 16,020,240 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Atl1
(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_004624731	18,283,234 - 18,362,693 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624731	18,283,372 - 18,362,644 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ATL1
535 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_015915.5(ATL1):c.1275A>G (p.Ile425Met)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000543969]	Chr14:50628186 [GRCh38] Chr14:51094904 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.587A>G (p.Tyr196Cys)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001320969]\|not provided [RCV000520465]	Chr14:50595589 [GRCh38] Chr14:51062307 [GRCh37] Chr14:14q22.1	pathogenic\|likely pathogenic\|uncertain significance
NM_015915.5(ATL1):c.1204T>C (p.Phe402Leu)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002248755]\|not provided [RCV000520804]	Chr14:50628115 [GRCh38] Chr14:51094833 [GRCh37] Chr14:14q22.1	pathogenic\|likely pathogenic
NM_015915.5(ATL1):c.1065C>A (p.Asn355Lys)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000789726]\|Neuropathy, hereditary sensory, type 1D [RCV000023542]\|Penetrating foot ulcers [RCV000626932]	Chr14:50623194 [GRCh38] Chr14:51089912 [GRCh37] Chr14:14q22.1	pathogenic\|uncertain significance
ATL1, 1-BP DEL, 976G	deletion	Hereditary sensory neuropathy type 1D [RCV000023544]\|NEUROPATHY, HEREDITARY SENSORY, TYPE ID [RCV000023544]	Chr14:14q11-q21	pathogenic
NM_015915.5(ATL1):c.1519dup (p.Ile507fs)	duplication	Hereditary spastic paraplegia 3A [RCV000020718]	Chr14:50628428..50628429 [GRCh38] Chr14:51095146..51095147 [GRCh37] Chr14:14q22.1	pathogenic\|conflicting interpretations of pathogenicity
ATL1, 1-BP INS, 1688A	insertion	Hereditary spastic paraplegia 3A [RCV000004598]	Chr14:14q11-q21	pathogenic
NM_015915.5(ATL1):c.1306_1308del (p.Asn436del)	deletion	Hereditary spastic paraplegia 3A [RCV000004602]\|Hereditary spastic paraplegia [RCV001847580]	Chr14:50628217..50628219 [GRCh38] Chr14:51094935..51094937 [GRCh37] Chr14:14q22.1	pathogenic\|likely pathogenic
NM_015915.5(ATL1):c.1051A>G (p.Thr351Ala)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002568431]\|not provided [RCV001564203]	Chr14:50623180 [GRCh38] Chr14:51089898 [GRCh37] Chr14:14q22.1	likely pathogenic\|uncertain significance
NM_015915.5(ATL1):c.522+19T>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001991533]	Chr14:50591658 [GRCh38] Chr14:51058376 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.481G>T (p.Ala161Ser)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000802695]\|not specified [RCV000517609]	Chr14:50591598 [GRCh38] Chr14:51058316 [GRCh37] Chr14:14q22.1	likely pathogenic\|uncertain significance
NM_015915.5(ATL1):c.1228G>A (p.Gly410Arg)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002527456]\|not provided [RCV000516661]	Chr14:50628139 [GRCh38] Chr14:51094857 [GRCh37] Chr14:14q22.1	pathogenic\|likely pathogenic
NM_015915.5(ATL1):c.196G>C (p.Glu66Gln)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000543629]\|Inborn genetic diseases [RCV002415427]\|Neuropathy, hereditary sensory, type 1D [RCV000023543]\|not provided [RCV000236565]	Chr14:50587992 [GRCh38] Chr14:51054710 [GRCh37] Chr14:14q22.1	pathogenic\|likely benign\|uncertain significance
NM_015915.5(ATL1):c.1246C>T (p.Arg416Cys)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000023545]\|Hereditary spastic paraplegia [RCV001847621]\|Inborn genetic diseases [RCV002513195]\|Neuropathy, hereditary sensory, type 1D [RCV004767019]\|not provided [RCV002285257]	Chr14:50628157 [GRCh38] Chr14:51094875 [GRCh37] Chr14:14q22.1	pathogenic\|likely pathogenic
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000004594]\|Hereditary spastic paraplegia 3A [RCV000850530]\|Hereditary spastic paraplegia [RCV001847579]\|Spastic paraplegia [RCV001003978]\|not provided [RCV000215830]	Chr14:50613343 [GRCh38] Chr14:51080061 [GRCh37] Chr14:14q22.1	pathogenic\|likely pathogenic
NM_015915.5(ATL1):c.776C>A (p.Ser259Tyr)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000004595]	Chr14:50614425 [GRCh38] Chr14:51081143 [GRCh37] Chr14:14q22.1	pathogenic
NM_015915.5(ATL1):c.773A>G (p.His258Arg)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000004596]	Chr14:50614422 [GRCh38] Chr14:51081140 [GRCh37] Chr14:14q22.1	pathogenic
NM_015915.5(ATL1):c.650G>A (p.Arg217Gln)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000004597]\|not provided [RCV001725929]	Chr14:50613278 [GRCh38] Chr14:51079996 [GRCh37] Chr14:14q22.1	pathogenic\|likely pathogenic
NM_015915.5(ATL1):c.1222A>G (p.Met408Val)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000004599]	Chr14:50628133 [GRCh38] Chr14:51094851 [GRCh37] Chr14:14q22.1	pathogenic\|likely pathogenic
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000004600]\|Inborn genetic diseases [RCV000190652]\|not provided [RCV001090532]	Chr14:50628154 [GRCh38] Chr14:51094872 [GRCh37] Chr14:14q22.1	pathogenic\|likely pathogenic
NM_015915.5(ATL1):c.470T>G (p.Leu157Trp)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000004601]	Chr14:50591587 [GRCh38] Chr14:51058305 [GRCh37] Chr14:14q22.1	pathogenic
NM_015915.5(ATL1):c.129C>G (p.Asp43Glu)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000020719]	Chr14:50587925 [GRCh38] Chr14:51054643 [GRCh37] Chr14:14q22.1	benign\|not provided
NM_015915.5(ATL1):c.351G>A (p.Glu117=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000020720]\|Hereditary spastic paraplegia 3A [RCV002496429]\|Hereditary spastic paraplegia [RCV001847616]\|Neuropathy, hereditary sensory, type 1D [RCV001553934]\|not provided [RCV000860187]\|not specified [RCV000116420]	Chr14:50591009 [GRCh38] Chr14:51057727 [GRCh37] Chr14:14q22.1	benign\|likely benign
NM_015915.5(ATL1):c.467C>T (p.Thr156Ile)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000020721]\|not provided [RCV000713455]	Chr14:50591584 [GRCh38] Chr14:51058302 [GRCh37] Chr14:14q22.1	pathogenic
NM_015915.5(ATL1):c.578T>G (p.Phe193Cys)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000020722]	Chr14:50595580 [GRCh38] Chr14:51062298 [GRCh37] Chr14:14q22.1	benign\|not provided
NM_015915.5(ATL1):c.621G>A (p.Lys207=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000020723]\|Hereditary spastic paraplegia [RCV001847617]\|Inborn genetic diseases [RCV002362591]\|Neuropathy, hereditary sensory, type 1D [RCV002259566]\|not provided [RCV004704813]\|not specified [RCV000430134]	Chr14:50595623 [GRCh38] Chr14:51062341 [GRCh37] Chr14:14q22.1	benign\|likely benign
NM_015915.5(ATL1):c.84A>G (p.Pro28=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000020724]\|Hereditary spastic paraplegia 3A [RCV000576658]\|Hereditary spastic paraplegia [RCV001847618]\|Neuropathy, hereditary sensory, type 1D [RCV002259567]\|not provided [RCV004715648]\|not specified [RCV000116421]	Chr14:50587880 [GRCh38] Chr14:51054598 [GRCh37] Chr14:14q22.1	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001127713.1(ATL1):c.34+10843A>C	single nucleotide variant	Lung cancer [RCV000098911]	Chr14:50571142 [GRCh38] Chr14:51037860 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1244G>A (p.Arg415Gln)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000050231]\|not provided [RCV000480817]	Chr14:50628155 [GRCh38] Chr14:51094873 [GRCh37] Chr14:14q22.1	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	copy number loss	See cases [RCV000051519]	Chr14:50591011..56286919 [GRCh38] Chr14:51057729..56753637 [GRCh37] Chr14:50127479..55823390 [NCBI36] Chr14:14q22.1-22.3	pathogenic
GRCh38/hg38 14q21.3-22.1(chr14:50091150-51777325)x3	copy number gain	See cases [RCV000052059]	Chr14:50091150..51777325 [GRCh38] Chr14:50557868..52244043 [GRCh37] Chr14:49627618..51313793 [NCBI36] Chr14:14q21.3-22.1	uncertain significance
NM_001127713.1(ATL1):c.87G>A (p.Val29=)	single nucleotide variant	Malignant melanoma [RCV000070546]	Chr14:50587883 [GRCh38] Chr14:51054601 [GRCh37] Chr14:50124351 [NCBI36] Chr14:14q22.1	not provided
NM_001127713.1(ATL1):c.794C>T (p.Ser265Phe)	single nucleotide variant	Malignant melanoma [RCV000062753]	Chr14:50614443 [GRCh38] Chr14:51081161 [GRCh37] Chr14:50150911 [NCBI36] Chr14:14q22.1	not provided
NM_001127713.1(ATL1):c.1189G>A (p.Glu397Lys)	single nucleotide variant	Malignant melanoma [RCV000062754]	Chr14:50628100 [GRCh38] Chr14:51094818 [GRCh37] Chr14:50164568 [NCBI36] Chr14:14q22.1	not provided
NM_015915.5(ATL1):c.630+7G>A	single nucleotide variant	ATL1-related disorder [RCV003982898]\|Hereditary spastic paraplegia 3A [RCV000576381]\|Hereditary spastic paraplegia 3A [RCV000860437]\|Neuropathy, hereditary sensory, type 1D [RCV002259650]\|not provided [RCV004715707]\|not specified [RCV000123709]	Chr14:50595639 [GRCh38] Chr14:51062357 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.988A>T (p.Lys330Ter)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003987402]\|not provided [RCV000171222]	Chr14:50620724 [GRCh38] Chr14:51087442 [GRCh37] Chr14:14q22.1	pathogenic\|likely pathogenic\|no classifications from unflagged records
NM_015915.5(ATL1):c.596T>A (p.Leu199Gln)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000190502]	Chr14:50595598 [GRCh38] Chr14:51062316 [GRCh37] Chr14:14q22.1	pathogenic
NM_015915.5(ATL1):c.1574A>G (p.Tyr525Cys)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001997381]\|Inborn genetic diseases [RCV004043903]	Chr14:50632236 [GRCh38] Chr14:51098954 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1157A>G (p.Asp386Gly)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001303229]	Chr14:50628068 [GRCh38] Chr14:51094786 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1200G>A (p.Lys400=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001081632]\|Inborn genetic diseases [RCV002345600]\|not provided [RCV000724714]	Chr14:50628111 [GRCh38] Chr14:51094829 [GRCh37] Chr14:14q22.1	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_015915.5(ATL1):c.353G>A (p.Arg118Gln)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002514782]\|Spastic Paraplegia, Recessive [RCV000281684]\|not provided [RCV000144894]	Chr14:50591011 [GRCh38] Chr14:51057729 [GRCh37] Chr14:14q22.1	likely pathogenic\|uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	copy number gain	See cases [RCV000135543]	Chr14:20151149..106855263 [GRCh38] Chr14:20619308..107263478 [GRCh37] Chr14:19689148..106334523 [NCBI36] Chr14:14q11.2-32.33	pathogenic
GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	copy number gain	See cases [RCV000140717]	Chr14:39196172..56714461 [GRCh38] Chr14:39665376..57181179 [GRCh37] Chr14:38735127..56250932 [NCBI36] Chr14:14q21.1-22.3	likely pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	copy number gain	See cases [RCV000143373]	Chr14:20043514..106877229 [GRCh38] Chr14:20511673..107285437 [GRCh37] Chr14:19581513..106356482 [NCBI36] Chr14:14q11.2-32.33	pathogenic
NM_015915.5(ATL1):c.631-7T>A	single nucleotide variant	ATL1-related disorder [RCV003947533]\|Hereditary spastic paraplegia 3A [RCV001081633]\|not provided [RCV000724713]	Chr14:50613252 [GRCh38] Chr14:51079970 [GRCh37] Chr14:14q22.1	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_015915.5(ATL1):c.1641G>A (p.Ser547=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001475871]\|Inborn genetic diseases [RCV002390529]	Chr14:50632303 [GRCh38] Chr14:51099021 [GRCh37] Chr14:14q22.1	pathogenic\|likely pathogenic\|likely benign
NM_015915.5(ATL1):c.300T>G (p.Val100=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000199958]\|Inborn genetic diseases [RCV002433889]	Chr14:50590958 [GRCh38] Chr14:51057676 [GRCh37] Chr14:14q22.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_015915.5(ATL1):c.757G>A (p.Val253Ile)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000206078]\|Hereditary spastic paraplegia [RCV001847933]\|not provided [RCV000235294]	Chr14:50614406 [GRCh38] Chr14:51081124 [GRCh37] Chr14:14q22.1	pathogenic\|likely pathogenic
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000203724]\|Hereditary spastic paraplegia [RCV001847927]\|Inborn genetic diseases [RCV000624103]\|not provided [RCV000390284]	Chr14:50628394 [GRCh38] Chr14:51095112 [GRCh37] Chr14:14q22.1	pathogenic\|likely pathogenic
NM_015915.5(ATL1):c.1193C>A (p.Ser398Tyr)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000203941]	Chr14:50628104 [GRCh38] Chr14:51094822 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.1230G>A (p.Gly410=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000227026]\|Hereditary spastic paraplegia 3A [RCV002494654]\|Hereditary spastic paraplegia [RCV001847999]\|Inborn genetic diseases [RCV002365211]\|Neuropathy, hereditary sensory, type 1D [RCV002259738]\|not provided [RCV001812648]\|not specified [RCV000613364]	Chr14:50628141 [GRCh38] Chr14:51094859 [GRCh37] Chr14:14q22.1	benign\|likely benign
NM_015915.5(ATL1):c.416A>G (p.Lys139Arg)	single nucleotide variant	not provided [RCV000235824]	Chr14:50591074 [GRCh38] Chr14:51057792 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.874G>A (p.Glu292Lys)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000524891]	Chr14:50620610 [GRCh38] Chr14:51087328 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.563A>G (p.Gln188Arg)	single nucleotide variant	not provided [RCV000518489]	Chr14:50593886 [GRCh38] Chr14:51060604 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.1213G>A (p.Val405Met)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000530204]\|not provided [RCV004767372]	Chr14:50628124 [GRCh38] Chr14:51094842 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1623T>G (p.Ala541=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000875223]\|Inborn genetic diseases [RCV002402025]	Chr14:50632285 [GRCh38] Chr14:51099003 [GRCh37] Chr14:14q22.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_015915.5(ATL1):c.523-13T>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000301726]	Chr14:50593833 [GRCh38] Chr14:51060551 [GRCh37] Chr14:14q22.1	likely benign\|uncertain significance
NM_015915.5(ATL1):c.705C>T (p.Phe235=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000462387]\|Hereditary spastic paraplegia [RCV001848112]\|Neuropathy, hereditary sensory, type 1D [RCV002259849]\|not provided [RCV001812807]\|not specified [RCV000428403]	Chr14:50613333 [GRCh38] Chr14:51080051 [GRCh37] Chr14:14q22.1	benign\|likely benign
NM_015915.5(ATL1):c.*305T>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000285544]\|Neuropathy, hereditary sensory, type 1D [RCV002259851]\|not provided [RCV001574920]	Chr14:50632644 [GRCh38] Chr14:51099362 [GRCh37] Chr14:14q22.1	benign\|likely benign
NM_015915.5(ATL1):c.669C>T (p.Tyr223=)	single nucleotide variant	ATL1-related disorder [RCV003910175]\|Hereditary spastic paraplegia 3A [RCV000471358]\|Hereditary spastic paraplegia [RCV001848111]\|Inborn genetic diseases [RCV002365365]\|Neuropathy, hereditary sensory, type 1D [RCV002259847]\|not provided [RCV001531188]\|not specified [RCV000427052]	Chr14:50613297 [GRCh38] Chr14:51080015 [GRCh37] Chr14:14q22.1	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_015915.5(ATL1):c.756C>T (p.Asn252=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000871475]\|Inborn genetic diseases [RCV002392857]	Chr14:50614405 [GRCh38] Chr14:51081123 [GRCh37] Chr14:14q22.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_015915.5(ATL1):c.1152A>G (p.Pro384=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000865579]\|Inborn genetic diseases [RCV002348051]\|not specified [RCV000608836]	Chr14:50628063 [GRCh38] Chr14:51094781 [GRCh37] Chr14:14q22.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_015915.5(ATL1):c.417+3A>G	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000558085]\|Hereditary spastic paraplegia 3A [RCV002487388]\|Hereditary spastic paraplegia [RCV001848110]\|Neuropathy, hereditary sensory, type 1D [RCV002259846]\|not provided [RCV001690040]	Chr14:50591078 [GRCh38] Chr14:51057796 [GRCh37] Chr14:14q22.1	benign\|likely benign
NM_015915.5(ATL1):c.1173C>T (p.His391=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001086937]\|Inborn genetic diseases [RCV002328826]\|not provided [RCV000487834]\|not specified [RCV000518429]	Chr14:50628084 [GRCh38] Chr14:51094802 [GRCh37] Chr14:14q22.1	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_015915.5(ATL1):c.*392C>A	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000345218]	Chr14:50632731 [GRCh38] Chr14:51099449 [GRCh37] Chr14:14q22.1	benign\|likely benign
NM_015915.5(ATL1):c.478T>C (p.Ser160Pro)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000705284]\|not provided [RCV000316265]	Chr14:50591595 [GRCh38] Chr14:51058313 [GRCh37] Chr14:14q22.1	pathogenic\|uncertain significance
NM_015915.5(ATL1):c.693T>C (p.Gly231=)	single nucleotide variant	ATL1-related disorder [RCV003910176]\|Hereditary spastic paraplegia 3A [RCV001083267]\|Inborn genetic diseases [RCV002365366]\|Neuropathy, hereditary sensory, type 1D [RCV002259848]\|not provided [RCV000713456]\|not specified [RCV000419034]	Chr14:50613321 [GRCh38] Chr14:51080039 [GRCh37] Chr14:14q22.1	benign\|likely benign
NM_015915.5(ATL1):c.*475G>A	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000309749]	Chr14:50632814 [GRCh38] Chr14:51099532 [GRCh37] Chr14:14q22.1	benign\|likely benign
NM_015915.5(ATL1):c.*621G>A	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000403138]	Chr14:50632960 [GRCh38] Chr14:51099678 [GRCh37] Chr14:14q22.1	benign\|likely benign
NM_015915.5(ATL1):c.969G>C (p.Arg323=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001435351]\|Inborn genetic diseases [RCV002374532]\|Spastic paraplegia, autosomal dominant [RCV000333856]	Chr14:50620705 [GRCh38] Chr14:51087423 [GRCh37] Chr14:14q22.1	likely benign\|uncertain significance
NM_015915.5(ATL1):c.622C>T (p.Pro208Ser)	single nucleotide variant	ATL1-related disorder [RCV003409489]\|Hereditary spastic paraplegia 3A [RCV000406065]\|Inborn genetic diseases [RCV002365364]\|not provided [RCV000428652]	Chr14:50595624 [GRCh38] Chr14:51062342 [GRCh37] Chr14:14q22.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_015915.5(ATL1):c.*450A>G	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000406965]	Chr14:50632789 [GRCh38] Chr14:51099507 [GRCh37] Chr14:14q22.1	benign\|likely benign
NM_015915.5(ATL1):c.408T>C (p.Asp136=)	single nucleotide variant	ATL1-related disorder [RCV003940214]\|Hereditary spastic paraplegia 3A [RCV000551365]\|Hereditary spastic paraplegia 3A [RCV002502228]\|Hereditary spastic paraplegia [RCV001848109]\|Neuropathy, hereditary sensory, type 1D [RCV002259845]	Chr14:50591066 [GRCh38] Chr14:51057784 [GRCh37] Chr14:14q22.1	benign\|likely benign
NM_015915.5(ATL1):c.*212T>A	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000339497]	Chr14:50632551 [GRCh38] Chr14:51099269 [GRCh37] Chr14:14q22.1	benign\|likely benign
NM_015915.5(ATL1):c.991-6T>G	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000388283]\|Hereditary spastic paraplegia [RCV001848113]\|Inborn genetic diseases [RCV002379192]\|Neuropathy, hereditary sensory, type 1D [RCV002259850]	Chr14:50621837 [GRCh38] Chr14:51088555 [GRCh37] Chr14:14q22.1	benign\|likely benign
NM_015915.5(ATL1):c.845T>G (p.Phe282Cys)	single nucleotide variant	not provided [RCV003239123]	Chr14:50614494 [GRCh38] Chr14:51081212 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.922G>A (p.Glu308Lys)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001856884]\|Neuropathy, hereditary sensory, type 1D [RCV001334885]\|not provided [RCV000488307]	Chr14:50620658 [GRCh38] Chr14:51087376 [GRCh37] Chr14:14q22.1	likely benign\|uncertain significance
NM_015915.5(ATL1):c.*304C>T	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000380046]	Chr14:50632643 [GRCh38] Chr14:51099361 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.*528A>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000345997]	Chr14:50632867 [GRCh38] Chr14:51099585 [GRCh37] Chr14:14q22.1	uncertain significance
NM_001127713.1(ATL1):c.-139-16C>G	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000295582]	Chr14:50560111 [GRCh38] Chr14:51026829 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.630+6C>A	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000308265]	Chr14:50595638 [GRCh38] Chr14:51062356 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1567-14T>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000374246]	Chr14:50632215 [GRCh38] Chr14:51098933 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.311A>G (p.Asn104Ser)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000536617]\|not provided [RCV000522762]	Chr14:50590969 [GRCh38] Chr14:51057687 [GRCh37] Chr14:14q22.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_015915.5(ATL1):c.*653T>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000311056]	Chr14:50632992 [GRCh38] Chr14:51099710 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.781_782insA (p.Phe261fs)	insertion	Hereditary spastic paraplegia 3A [RCV000810980]\|not provided [RCV000598554]	Chr14:50614430..50614431 [GRCh38] Chr14:51081148..51081149 [GRCh37] Chr14:14q22.1	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_015915.5(ATL1):c.630+3G>A	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000551150]\|Inborn genetic diseases [RCV002358562]	Chr14:50595635 [GRCh38] Chr14:51062353 [GRCh37] Chr14:14q22.1	uncertain significance
GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3	copy number gain	See cases [RCV000447658]	Chr14:23164384..54733411 [GRCh37] Chr14:14q11.2-22.2	pathogenic
GRCh37/hg19 14q21.3-22.1(chr14:50655303-51056600)x1	copy number loss	See cases [RCV000447300]	Chr14:50655303..51056600 [GRCh37] Chr14:14q21.3-22.1	uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	copy number gain	See cases [RCV000446256]	Chr14:19794561..107234280 [GRCh37] Chr14:14q11.2-32.33	pathogenic
NM_015915.5(ATL1):c.1078G>A (p.Val360Met)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000647932]\|Inborn genetic diseases [RCV002418324]\|not provided [RCV001721415]	Chr14:50623207 [GRCh38] Chr14:51089925 [GRCh37] Chr14:14q22.1	likely pathogenic\|likely benign\|uncertain significance
NM_015915.5(ATL1):c.1173C>G (p.His391Gln)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002526338]\|not provided [RCV000424185]	Chr14:50628084 [GRCh38] Chr14:51094802 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1651G>T (p.Glu551Ter)	single nucleotide variant	not provided [RCV000431827]	Chr14:50632313 [GRCh38] Chr14:51099031 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.687C>T (p.Ala229=)	single nucleotide variant	Inborn genetic diseases [RCV002365464]\|not provided [RCV001712180]	Chr14:50613315 [GRCh38] Chr14:51080033 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.322A>G (p.Thr108Ala)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000647937]\|Inborn genetic diseases [RCV002446648]\|not provided [RCV001702364]	Chr14:50590980 [GRCh38] Chr14:51057698 [GRCh37] Chr14:14q22.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_015915.5(ATL1):c.1206C>A (p.Phe402Leu)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000679930]	Chr14:50628117 [GRCh38] Chr14:51094835 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1105A>C (p.Lys369Gln)	single nucleotide variant	Inborn genetic diseases [RCV002429452]\|not provided [RCV000440807]	Chr14:50623234 [GRCh38] Chr14:51089952 [GRCh37] Chr14:14q22.1	uncertain significance
GRCh37/hg19 14q21.3-22.1(chr14:50598842-52261074)x3	copy number gain	See cases [RCV000447838]	Chr14:50598842..52261074 [GRCh37] Chr14:14q21.3-22.1	uncertain significance
GRCh37/hg19 14q22.1(chr14:51088592-51188166)x3	copy number gain	See cases [RCV000448469]	Chr14:51088592..51188166 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.990+4T>A	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000464748]\|Inborn genetic diseases [RCV002379471]\|not specified [RCV000518566]	Chr14:50620730 [GRCh38] Chr14:51087448 [GRCh37] Chr14:14q22.1	likely benign\|uncertain significance
NM_015915.5(ATL1):c.991-3dup	duplication	Hereditary spastic paraplegia 3A [RCV002063791]\|Inborn genetic diseases [RCV002383923]\|Neuropathy, hereditary sensory, type 1D [RCV002259965]\|not provided [RCV004719084]	Chr14:50621831..50621832 [GRCh38] Chr14:51088549..51088550 [GRCh37] Chr14:14q22.1	benign\|likely benign
NM_015915.5(ATL1):c.1225G>T (p.Gly409Cys)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002526601]\|not provided [RCV000479836]	Chr14:50628136 [GRCh38] Chr14:51094854 [GRCh37] Chr14:14q22.1	pathogenic\|likely pathogenic
NM_015915.5(ATL1):c.461A>G (p.Gln154Arg)	single nucleotide variant	Abnormal pyramidal sign [RCV001526629]\|Hereditary spastic paraplegia 3A [RCV000469923]	Chr14:50591578 [GRCh38] Chr14:51058296 [GRCh37] Chr14:14q22.1	likely pathogenic\|uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	copy number gain	See cases [RCV000512041]	Chr14:20511673..107285437 [GRCh37] Chr14:14q11.2-32.33	pathogenic
NM_015915.5(ATL1):c.1189G>C (p.Glu397Gln)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000647928]	Chr14:50628100 [GRCh38] Chr14:51094818 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.769A>G (p.Ile257Val)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000647929]	Chr14:50614418 [GRCh38] Chr14:51081136 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.536C>A (p.Ser179Tyr)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000647934]\|not provided [RCV003480737]	Chr14:50593859 [GRCh38] Chr14:51060577 [GRCh37] Chr14:14q22.1	likely pathogenic\|uncertain significance
NM_015915.5(ATL1):c.1556G>A (p.Ser519Asn)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000647935]\|Hereditary spastic paraplegia 3A [RCV003483701]	Chr14:50629999 [GRCh38] Chr14:51096717 [GRCh37] Chr14:14q22.1	uncertain significance\|not provided
NM_015915.5(ATL1):c.570C>G (p.Leu190=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000647938]\|Hereditary spastic paraplegia [RCV001849026]\|Neuropathy, hereditary sensory, type 1D [RCV002260038]	Chr14:50593893 [GRCh38] Chr14:51060611 [GRCh37] Chr14:14q22.1	benign\|likely benign
NM_015915.5(ATL1):c.306C>A (p.Asp102Glu)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000647939]\|Inborn genetic diseases [RCV002449065]\|Neuropathy, hereditary sensory, type 1D [RCV002260039]\|not provided [RCV001653968]	Chr14:50590964 [GRCh38] Chr14:51057682 [GRCh37] Chr14:14q22.1	benign\|likely benign
NM_015915.5(ATL1):c.1379T>A (p.Val460Glu)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000558776]	Chr14:50628290 [GRCh38] Chr14:51095008 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1465_1466dup (p.Thr490fs)	microsatellite	Hereditary spastic paraplegia 3A [RCV003312916]	Chr14:50628373..50628374 [GRCh38] Chr14:51095091..51095092 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.4(ATL1):c.1065C>A (p.Asn355Lys)	single nucleotide variant	Penetrating foot ulcers [RCV000626932]	Chr14:50623194 [GRCh38] Chr14:51089912 [GRCh37] Chr14:14q22.1	pathogenic
NM_015915.5(ATL1):c.147T>G (p.Asp49Glu)	single nucleotide variant	Inborn genetic diseases [RCV003287791]	Chr14:50587943 [GRCh38] Chr14:51054661 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1676A>G (p.Ter559=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003502540]\|not specified [RCV000607630]	Chr14:50632338 [GRCh38] Chr14:51099056 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.164G>A (p.Arg55Gln)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000533437]\|Inborn genetic diseases [RCV004024173]\|not provided [RCV001755864]	Chr14:50587960 [GRCh38] Chr14:51054678 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1047+12T>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002528608]\|not specified [RCV000615533]	Chr14:50621911 [GRCh38] Chr14:51088629 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1024C>T (p.Pro342Ser)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003312908]	Chr14:50621876 [GRCh38] Chr14:51088594 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1025C>A (p.Pro342Gln)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003312909]	Chr14:50621877 [GRCh38] Chr14:51088595 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1193C>T (p.Ser398Phe)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003312911]\|not provided [RCV004719318]	Chr14:50628104 [GRCh38] Chr14:51094822 [GRCh37] Chr14:14q22.1	pathogenic\|uncertain significance
NM_015915.5(ATL1):c.1057G>A (p.Glu353Lys)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000556273]	Chr14:50623186 [GRCh38] Chr14:51089904 [GRCh37] Chr14:14q22.1	likely pathogenic\|uncertain significance
NM_015915.5(ATL1):c.35-14G>A	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002064372]\|Neuropathy, hereditary sensory, type 1D [RCV002260029]\|not provided [RCV003736857]\|not specified [RCV000611316]	Chr14:50587817 [GRCh38] Chr14:51054535 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.30T>C (p.Ser10=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000558302]\|Inborn genetic diseases [RCV002324019]\|Neuropathy, hereditary sensory, type 1D [RCV002260013]\|not specified [RCV001662576]	Chr14:50560295 [GRCh38] Chr14:51027013 [GRCh37] Chr14:14q22.1	benign\|likely benign
NM_015915.5(ATL1):c.953A>T (p.Asn318Ile)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000539569]\|Inborn genetic diseases [RCV002530064]\|not provided [RCV003235284]	Chr14:50620689 [GRCh38] Chr14:51087407 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.34+16G>A	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003767662]\|not specified [RCV000611772]	Chr14:50560315 [GRCh38] Chr14:51027033 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.594A>C (p.Arg198Ser)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000536383]	Chr14:50595596 [GRCh38] Chr14:51062314 [GRCh37] Chr14:14q22.1	likely pathogenic\|uncertain significance
NM_015915.5(ATL1):c.46G>C (p.Glu16Gln)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000647930]	Chr14:50587842 [GRCh38] Chr14:51054560 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1024C>G (p.Pro342Ala)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000647931]	Chr14:50621876 [GRCh38] Chr14:51088594 [GRCh37] Chr14:14q22.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_015915.5(ATL1):c.27C>G (p.Asn9Lys)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000647933]\|Inborn genetic diseases [RCV002440339]	Chr14:50560292 [GRCh38] Chr14:51027010 [GRCh37] Chr14:14q22.1	likely benign\|uncertain significance
NM_015915.5(ATL1):c.1041G>A (p.Met347Ile)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000647936]\|not provided [RCV003483702]	Chr14:50621893 [GRCh38] Chr14:51088611 [GRCh37] Chr14:14q22.1	likely pathogenic\|uncertain significance
NM_015915.5(ATL1):c.780T>C (p.Cys260=)	single nucleotide variant	Inborn genetic diseases [RCV002413736]\|not specified [RCV000606680]	Chr14:50614429 [GRCh38] Chr14:51081147 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.688G>A (p.Asp230Asn)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001346950]\|Inborn genetic diseases [RCV002367703]\|Neuropathy, hereditary sensory, type 1D [RCV001706655]\|not provided [RCV000513662]	Chr14:50613316 [GRCh38] Chr14:51080034 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.127G>A (p.Asp43Asn)	single nucleotide variant	not provided [RCV000658147]	Chr14:50587923 [GRCh38] Chr14:51054641 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.572A>G (p.Gln191Arg)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000698465]	Chr14:50593895 [GRCh38] Chr14:51060613 [GRCh37] Chr14:14q22.1	pathogenic\|likely pathogenic\|uncertain significance
NM_015915.5(ATL1):c.1222A>T (p.Met408Leu)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000679931]	Chr14:50628133 [GRCh38] Chr14:51094851 [GRCh37] Chr14:14q22.1	uncertain significance
GRCh37/hg19 14q22.1(chr14:50977957-51680043)x3	copy number gain	not provided [RCV000683616]	Chr14:50977957..51680043 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.373A>G (p.Ile125Val)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000700886]	Chr14:50591031 [GRCh38] Chr14:51057749 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.163C>T (p.Arg55Trp)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000702118]\|Inborn genetic diseases [RCV004669092]\|not provided [RCV003140112]	Chr14:50587959 [GRCh38] Chr14:51054677 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1546G>A (p.Asp516Asn)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000696450]\|not provided [RCV000755830]	Chr14:50628457 [GRCh38] Chr14:51095175 [GRCh37] Chr14:14q22.1	uncertain significance
NC_000014.8:g.(?_51087297)_(51099077_?)dup	duplication	Hereditary spastic paraplegia 3A [RCV000708370]	Chr14:50620579..50632359 [GRCh38] Chr14:51087297..51099077 [GRCh37] Chr14:14q22.1	uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3	copy number gain	not provided [RCV000738412]	Chr14:19000422..107289053 [GRCh37] Chr14:14q11.1-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3	copy number gain	not provided [RCV000738413]	Chr14:19280733..107287663 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3	copy number gain	not provided [RCV000738414]	Chr14:19327823..107287663 [GRCh37] Chr14:14q11.2-32.33	pathogenic
NM_015915.5(ATL1):c.944T>G (p.Ile315Ser)	single nucleotide variant	not provided [RCV001531189]	Chr14:50620680 [GRCh38] Chr14:51087398 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.723+10A>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002068689]	Chr14:50613361 [GRCh38] Chr14:51080079 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.630+264del	deletion	not provided [RCV001690648]	Chr14:50595886 [GRCh38] Chr14:51062604 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.1511del (p.Gly504fs)	deletion	Hereditary spastic paraplegia 3A [RCV000761255]	Chr14:50628420 [GRCh38] Chr14:51095138 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.547C>G (p.Gln183Glu)	single nucleotide variant	not provided [RCV000761873]	Chr14:50593870 [GRCh38] Chr14:51060588 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1308T>A (p.Asn436Lys)	single nucleotide variant	not provided [RCV000761874]	Chr14:50628219 [GRCh38] Chr14:51094937 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.1566+49_1566+51del	deletion	not provided [RCV001584653]	Chr14:50630056..50630058 [GRCh38] Chr14:51096774..51096776 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.574-24G>C	single nucleotide variant	not provided [RCV001546118]	Chr14:50595552 [GRCh38] Chr14:51062270 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.754A>T (p.Asn252Tyr)	single nucleotide variant	not provided [RCV001663609]	Chr14:50614403 [GRCh38] Chr14:51081121 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1040T>C (p.Met347Thr)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003311931]\|not provided [RCV000993058]	Chr14:50621892 [GRCh38] Chr14:51088610 [GRCh37] Chr14:14q22.1	pathogenic\|uncertain significance
NM_015915.5(ATL1):c.90A>G (p.Lys30=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000869014]	Chr14:50587886 [GRCh38] Chr14:51054604 [GRCh37] Chr14:14q22.1	benign
NC_000014.9:g.(?_50613249)_(50632349_?)dup	duplication	Hereditary spastic paraplegia 3A [RCV001032833]	Chr14:51079967..51099067 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1551+11C>G	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002067436]\|not provided [RCV000827167]	Chr14:50628473 [GRCh38] Chr14:51095191 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.45G>A (p.Ser15=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000864125]	Chr14:50587841 [GRCh38] Chr14:51054559 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.879C>T (p.Phe293=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001439856]	Chr14:50620615 [GRCh38] Chr14:51087333 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1030C>T (p.Pro344Ser)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003312910]	Chr14:50621882 [GRCh38] Chr14:51088600 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1237T>C (p.Phe413Leu)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003312913]	Chr14:50628148 [GRCh38] Chr14:51094866 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.460C>G (p.Gln154Glu)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003312920]	Chr14:50591577 [GRCh38] Chr14:51058295 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.176C>T (p.Ser59Leu)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000800876]\|Inborn genetic diseases [RCV002397615]	Chr14:50587972 [GRCh38] Chr14:51054690 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1068T>A (p.Asn356Lys)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000793809]	Chr14:50623197 [GRCh38] Chr14:51089915 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.522+154G>A	single nucleotide variant	not provided [RCV000832696]	Chr14:50591793 [GRCh38] Chr14:51058511 [GRCh37] Chr14:14q22.1	benign
NM_001127713.1(ATL1):c.-140+55A>T	single nucleotide variant	not provided [RCV000837630]	Chr14:50533422 [GRCh38] Chr14:51000140 [GRCh37] Chr14:14q22.1	benign
NM_001127713.1(ATL1):c.-140+60G>A	single nucleotide variant	not provided [RCV000837631]	Chr14:50533427 [GRCh38] Chr14:51000145 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.523-112A>G	single nucleotide variant	not provided [RCV000837632]	Chr14:50593734 [GRCh38] Chr14:51060452 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.990+245G>A	single nucleotide variant	not provided [RCV000837644]	Chr14:50620971 [GRCh38] Chr14:51087689 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.1048-168G>T	single nucleotide variant	not provided [RCV000837645]	Chr14:50623009 [GRCh38] Chr14:51089727 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.540A>C (p.Gln180His)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000798317]	Chr14:50593863 [GRCh38] Chr14:51060581 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1160T>C (p.Leu387Ser)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000816079]\|not provided [RCV001547425]	Chr14:50628071 [GRCh38] Chr14:51094789 [GRCh37] Chr14:14q22.1	pathogenic\|likely pathogenic\|uncertain significance
NM_015915.5(ATL1):c.1259A>G (p.Gln420Arg)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000807382]	Chr14:50628170 [GRCh38] Chr14:51094888 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1111dup (p.Met371fs)	duplication	Neuropathy, hereditary sensory, type 1D [RCV000791019]	Chr14:50623233..50623234 [GRCh38] Chr14:51089951..51089952 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.1551+9A>G	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002539963]	Chr14:50628471 [GRCh38] Chr14:51095189 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.630+105G>A	single nucleotide variant	Neuropathy, hereditary sensory, type 1D [RCV001554128]\|not provided [RCV000829652]	Chr14:50595737 [GRCh38] Chr14:51062455 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.863-54A>G	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001554129]\|not provided [RCV000829653]	Chr14:50620545 [GRCh38] Chr14:51087263 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.1551+241A>G	single nucleotide variant	not provided [RCV000836569]	Chr14:50628703 [GRCh38] Chr14:51095421 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.388T>C (p.Phe130Leu)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000792266]\|Inborn genetic diseases [RCV002352309]	Chr14:50591046 [GRCh38] Chr14:51057764 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.488T>C (p.Val163Ala)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000989218]\|not provided [RCV001580004]	Chr14:50591605 [GRCh38] Chr14:51058323 [GRCh37] Chr14:14q22.1	pathogenic\|likely pathogenic
NM_015915.5(ATL1):c.862+286C>T	single nucleotide variant	not provided [RCV000827690]	Chr14:50614797 [GRCh38] Chr14:51081515 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.1414A>G (p.Ile472Val)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000810041]	Chr14:50628325 [GRCh38] Chr14:51095043 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1567-77C>A	single nucleotide variant	not provided [RCV000835092]	Chr14:50632152 [GRCh38] Chr14:51098870 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.1334C>T (p.Ala445Val)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000800152]	Chr14:50628245 [GRCh38] Chr14:51094963 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.990+11C>T	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002538254]\|not provided [RCV000827120]	Chr14:50620737 [GRCh38] Chr14:51087455 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1552-103_1552-102insTTCTT	insertion	not provided [RCV000829654]	Chr14:50629892..50629893 [GRCh38] Chr14:51096610..51096611 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.574-132G>A	single nucleotide variant	not provided [RCV000829651]	Chr14:50595444 [GRCh38] Chr14:51062162 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.1488C>A (p.Tyr496Ter)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000793973]	Chr14:50628399 [GRCh38] Chr14:51095117 [GRCh37] Chr14:14q22.1	pathogenic\|uncertain significance
NM_015915.5(ATL1):c.543T>A (p.Asn181Lys)	single nucleotide variant	not provided [RCV001090530]	Chr14:50593866 [GRCh38] Chr14:51060584 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1048G>A (p.Ala350Thr)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000810038]	Chr14:50623177 [GRCh38] Chr14:51089895 [GRCh37] Chr14:14q22.1	pathogenic\|uncertain significance
NM_015915.5(ATL1):c.976del (p.Val326fs)	deletion	Charcot-Marie-Tooth disease [RCV000789725]\|Neuropathy, hereditary sensory, type 1D [RCV000023544]	Chr14:50620711 [GRCh38] Chr14:51087429 [GRCh37] Chr14:14q22.1	pathogenic\|uncertain significance
NM_015915.5(ATL1):c.1573T>C (p.Tyr525His)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000802025]	Chr14:50632235 [GRCh38] Chr14:51098953 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.756C>A (p.Asn252Lys)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000818981]	Chr14:50614405 [GRCh38] Chr14:51081123 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.862+220C>T	single nucleotide variant	not provided [RCV000837633]	Chr14:50614731 [GRCh38] Chr14:51081449 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.1119+136_1119+137insAT	insertion	Neuropathy, hereditary sensory, type 1D [RCV001554130]\|not provided [RCV000837646]	Chr14:50623384..50623385 [GRCh38] Chr14:51090102..51090103 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.1119+149T>G	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001554131]\|not provided [RCV000837647]	Chr14:50623397 [GRCh38] Chr14:51090115 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.1502G>C (p.Arg501Pro)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000823500]	Chr14:50628413 [GRCh38] Chr14:51095131 [GRCh37] Chr14:14q22.1	uncertain significance
GRCh37/hg19 14q22.1(chr14:51002866-51116512)x3	copy number gain	not provided [RCV000847888]	Chr14:51002866..51116512 [GRCh37] Chr14:14q22.1	uncertain significance
GRCh37/hg19 14q22.1(chr14:50992935-51078523)x3	copy number gain	not provided [RCV000849238]	Chr14:50992935..51078523 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1223T>C (p.Met408Thr)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV000989219]\|not provided [RCV001585898]	Chr14:50628134 [GRCh38] Chr14:51094852 [GRCh37] Chr14:14q22.1	pathogenic
NM_015915.5(ATL1):c.1673T>A (p.Met558Lys)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001230923]\|not provided [RCV003227012]	Chr14:50632335 [GRCh38] Chr14:51099053 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.34+4A>G	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001239043]	Chr14:50560303 [GRCh38] Chr14:51027021 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.598G>A (p.Ala200Thr)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001240910]	Chr14:50595600 [GRCh38] Chr14:51062318 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1119G>A (p.Glu373=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001223499]	Chr14:50623248 [GRCh38] Chr14:51089966 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.776C>T (p.Ser259Phe)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001221487]\|not provided [RCV001268896]	Chr14:50614425 [GRCh38] Chr14:51081143 [GRCh37] Chr14:14q22.1	pathogenic\|conflicting interpretations of pathogenicity
NM_015915.5(ATL1):c.1322T>G (p.Ile441Ser)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001238403]\|not provided [RCV001288450]	Chr14:50628233 [GRCh38] Chr14:51094951 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.971G>A (p.Gly324Asp)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001211444]	Chr14:50620707 [GRCh38] Chr14:51087425 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1314C>G (p.Ser438Arg)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001248013]\|not provided [RCV004769967]	Chr14:50628225 [GRCh38] Chr14:51094943 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.452T>C (p.Phe151Ser)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003312919]	Chr14:50591569 [GRCh38] Chr14:51058287 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1237T>G (p.Phe413Val)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003312914]	Chr14:50628148 [GRCh38] Chr14:51094866 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1319A>C (p.Asn440Thr)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003312915]	Chr14:50628230 [GRCh38] Chr14:51094948 [GRCh37] Chr14:14q22.1	pathogenic\|uncertain significance
NM_015915.5(ATL1):c.1474dup (p.Ala492fs)	duplication	Hereditary spastic paraplegia 3A [RCV003312917]	Chr14:50628382..50628383 [GRCh38] Chr14:51095100..51095101 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1504dup (p.Glu502fs)	duplication	Hereditary spastic paraplegia 3A [RCV003312918]	Chr14:50628414..50628415 [GRCh38] Chr14:51095132..51095133 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1217AGA[1] (p.Lys407del)	microsatellite	Hereditary spastic paraplegia 3A [RCV000995703]\|Hereditary spastic paraplegia [RCV001847131]\|not provided [RCV002307651]	Chr14:50628126..50628128 [GRCh38] Chr14:51094844..51094846 [GRCh37] Chr14:14q22.1	pathogenic\|likely pathogenic
NM_015915.5(ATL1):c.1030C>A (p.Pro344Thr)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001068765]	Chr14:50621882 [GRCh38] Chr14:51088600 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.293A>G (p.Asp98Gly)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001068936]	Chr14:50590951 [GRCh38] Chr14:51057669 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.*327A>G	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001109729]	Chr14:50632666 [GRCh38] Chr14:51099384 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.*335C>T	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001109730]	Chr14:50632674 [GRCh38] Chr14:51099392 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.*371T>A	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001109731]	Chr14:50632710 [GRCh38] Chr14:51099428 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.*464C>T	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001109732]	Chr14:50632803 [GRCh38] Chr14:51099521 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.833C>T (p.Thr278Ile)	single nucleotide variant	Neuropathy, hereditary sensory, type 1D [RCV001198355]	Chr14:50614482 [GRCh38] Chr14:51081200 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.766C>G (p.His256Asp)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001866014]\|not provided [RCV001569594]	Chr14:50614415 [GRCh38] Chr14:51081133 [GRCh37] Chr14:14q22.1	likely pathogenic\|uncertain significance
NM_015915.5(ATL1):c.1567-78A>G	single nucleotide variant	not provided [RCV001570844]	Chr14:50632151 [GRCh38] Chr14:51098869 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.990+287T>C	single nucleotide variant	not provided [RCV001576824]	Chr14:50621013 [GRCh38] Chr14:51087731 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1567-195dup	duplication	not provided [RCV001555981]	Chr14:50632033..50632034 [GRCh38] Chr14:51098751..51098752 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.990+281del	deletion	not provided [RCV001591985]	Chr14:50621007 [GRCh38] Chr14:51087725 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.631-166G>A	single nucleotide variant	not provided [RCV001530899]	Chr14:50613093 [GRCh38] Chr14:51079811 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1308T>C (p.Asn436=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001492703]	Chr14:50628219 [GRCh38] Chr14:51094937 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1266G>A (p.Glu422=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001481963]	Chr14:50628177 [GRCh38] Chr14:51094895 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.61T>C (p.Trp21Arg)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001211767]	Chr14:50587857 [GRCh38] Chr14:51054575 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.483C>T (p.Ala161=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001482328]	Chr14:50591600 [GRCh38] Chr14:51058318 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.723+273_723+277del	deletion	not provided [RCV001577182]	Chr14:50613624..50613628 [GRCh38] Chr14:51080342..51080346 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.34+109del	deletion	not provided [RCV001551582]	Chr14:50560408 [GRCh38] Chr14:51027126 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.757G>T (p.Val253Phe)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003502715]\|not provided [RCV003231729]	Chr14:50614406 [GRCh38] Chr14:51081124 [GRCh37] Chr14:14q22.1	likely pathogenic\|uncertain significance
NM_015915.5(ATL1):c.1551+249T>C	single nucleotide variant	not provided [RCV001595443]	Chr14:50628711 [GRCh38] Chr14:51095429 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.1027C>G (p.His343Asp)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002251214]	Chr14:50621879 [GRCh38] Chr14:51088597 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.283-56G>A	single nucleotide variant	not provided [RCV001569355]	Chr14:50590885 [GRCh38] Chr14:51057603 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1055C>A (p.Ala352Glu)	single nucleotide variant	not provided [RCV000995174]	Chr14:50623184 [GRCh38] Chr14:51089902 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.716G>T (p.Arg239Leu)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001065616]	Chr14:50613344 [GRCh38] Chr14:51080062 [GRCh37] Chr14:14q22.1	pathogenic\|likely pathogenic
NM_015915.5(ATL1):c.1332A>C (p.Ala444=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002538671]\|not provided [RCV001723350]	Chr14:50628243 [GRCh38] Chr14:51094961 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1501C>T (p.Arg501Ter)	single nucleotide variant	not provided [RCV001682696]	Chr14:50628412 [GRCh38] Chr14:51095130 [GRCh37] Chr14:14q22.1	pathogenic
NM_015915.5(ATL1):c.1119+150A>G	single nucleotide variant	not provided [RCV001598070]	Chr14:50623398 [GRCh38] Chr14:51090116 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.1551+158T>C	single nucleotide variant	not provided [RCV001596432]	Chr14:50628620 [GRCh38] Chr14:51095338 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.*180A>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001113750]	Chr14:50632519 [GRCh38] Chr14:51099237 [GRCh37] Chr14:14q22.1	uncertain significance
NC_000014.9:g.(?_50590931)_(50632349_?)del	deletion	Hereditary spastic paraplegia 3A [RCV001033118]	Chr14:51057649..51099067 [GRCh37] Chr14:14q22.1	likely pathogenic
NC_000014.9:g.(?_50560256)_(50632349_?)del	deletion	Hereditary spastic paraplegia 3A [RCV001031996]	Chr14:51026974..51099067 [GRCh37] Chr14:14q22.1	pathogenic
NM_015915.5(ATL1):c.34+110G>C	single nucleotide variant	not provided [RCV001670751]	Chr14:50560409 [GRCh38] Chr14:51027127 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.1048-58G>A	single nucleotide variant	not provided [RCV001713487]	Chr14:50623119 [GRCh38] Chr14:51089837 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.418-175T>C	single nucleotide variant	not provided [RCV001713488]	Chr14:50591360 [GRCh38] Chr14:51058078 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.1673T>C (p.Met558Thr)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001071748]	Chr14:50632335 [GRCh38] Chr14:51099053 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1120-47A>C	single nucleotide variant	not provided [RCV001586811]	Chr14:50627984 [GRCh38] Chr14:51094702 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.860A>G (p.Lys287Arg)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001050443]	Chr14:50614509 [GRCh38] Chr14:51081227 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.418-19G>T	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002070360]\|Neuropathy, hereditary sensory, type 1D [RCV001553935]\|not provided [RCV001692448]\|not specified [RCV001529324]	Chr14:50591516 [GRCh38] Chr14:51058234 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.508A>G (p.Ile170Val)	single nucleotide variant	not provided [RCV001573980]	Chr14:50591625 [GRCh38] Chr14:51058343 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.35-74G>C	single nucleotide variant	not provided [RCV001669765]	Chr14:50587757 [GRCh38] Chr14:51054475 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.473G>T (p.Arg158Ile)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001204748]	Chr14:50591590 [GRCh38] Chr14:51058308 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1120-15C>T	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001112391]	Chr14:50628016 [GRCh38] Chr14:51094734 [GRCh37] Chr14:14q22.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_015915.5(ATL1):c.*109A>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001113749]	Chr14:50632448 [GRCh38] Chr14:51099166 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.564G>T (p.Gln188His)	single nucleotide variant	not provided [RCV001200590]	Chr14:50593887 [GRCh38] Chr14:51060605 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1330G>T (p.Ala444Ser)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001232886]\|not provided [RCV001760239]	Chr14:50628241 [GRCh38] Chr14:51094959 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.686C>G (p.Ala229Gly)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001219488]\|Inborn genetic diseases [RCV002365992]\|not provided [RCV001288451]	Chr14:50613314 [GRCh38] Chr14:51080032 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.918T>G (p.Ser306Arg)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001048303]	Chr14:50620654 [GRCh38] Chr14:51087372 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1295A>G (p.Tyr432Cys)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001230783]	Chr14:50628206 [GRCh38] Chr14:51094924 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1142T>A (p.Phe381Tyr)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001228830]	Chr14:50628053 [GRCh38] Chr14:51094771 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1635A>G (p.Pro545=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001113748]\|Neuropathy, hereditary sensory, type 1D [RCV002260140]	Chr14:50632297 [GRCh38] Chr14:51099015 [GRCh37] Chr14:14q22.1	benign
GRCh37/hg19 14q21.3-22.1(chr14:50317272-51627752)x3	copy number gain	not provided [RCV001006632]	Chr14:50317272..51627752 [GRCh37] Chr14:14q21.3-22.1	uncertain significance
NM_015915.5(ATL1):c.1247G>A (p.Arg416His)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001064153]\|Inborn genetic diseases [RCV002393313]\|not provided [RCV001593242]	Chr14:50628158 [GRCh38] Chr14:51094876 [GRCh37] Chr14:14q22.1	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_015915.5(ATL1):c.1216A>G (p.Lys406Glu)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001027705]	Chr14:50628127 [GRCh38] Chr14:51094845 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.169C>T (p.Leu57Phe)	single nucleotide variant	Neuropathy, hereditary sensory, type 1D [RCV001195765]	Chr14:50587965 [GRCh38] Chr14:51054683 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1355T>C (p.Phe452Ser)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001063282]\|not provided [RCV002462308]	Chr14:50628266 [GRCh38] Chr14:51094984 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1226G>A (p.Gly409Asp)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003502587]\|Hereditary spastic paraplegia [RCV001847151]\|not provided [RCV001090531]	Chr14:50628137 [GRCh38] Chr14:51094855 [GRCh37] Chr14:14q22.1	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_015915.5(ATL1):c.574C>T (p.Leu192Phe)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001251114]	Chr14:50595576 [GRCh38] Chr14:51062294 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.1634C>T (p.Pro545Leu)	single nucleotide variant	Neuropathy, hereditary sensory, type 1D [RCV001253483]	Chr14:50632296 [GRCh38] Chr14:51099014 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.731G>T (p.Gly244Val)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001294337]	Chr14:50614380 [GRCh38] Chr14:51081098 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.352C>T (p.Arg118Ter)	single nucleotide variant	not provided [RCV001268399]	Chr14:50591010 [GRCh38] Chr14:51057728 [GRCh37] Chr14:14q22.1	pathogenic
NM_015915.5(ATL1):c.1220A>T (p.Lys407Met)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001391396]\|Inborn genetic diseases [RCV001267476]	Chr14:50628131 [GRCh38] Chr14:51094849 [GRCh37] Chr14:14q22.1	pathogenic\|likely pathogenic
NM_015915.5(ATL1):c.1640C>T (p.Ser547Leu)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002000917]	Chr14:50632302 [GRCh38] Chr14:51099020 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1472G>A (p.Trp491Ter)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001261529]	Chr14:50628383 [GRCh38] Chr14:51095101 [GRCh37] Chr14:14q22.1	pathogenic
NM_015915.5(ATL1):c.716G>A (p.Arg239His)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001316506]\|Spastic paraplegia [RCV001731196]	Chr14:50613344 [GRCh38] Chr14:51080062 [GRCh37] Chr14:14q22.1	likely pathogenic\|uncertain significance
NM_015915.5(ATL1):c.921C>T (p.Pro307=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001483701]\|Neuropathy, hereditary sensory, type 1D [RCV002260150]\|not specified [RCV001288452]	Chr14:50620657 [GRCh38] Chr14:51087375 [GRCh37] Chr14:14q22.1	benign\|likely benign
NC_000014.8:g.(?_51079967)_(51099067_?)dup	duplication	Hereditary spastic paraplegia 3A [RCV001314755]	Chr14:51079967..51099067 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.282+4T>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001303043]	Chr14:50588082 [GRCh38] Chr14:51054800 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1542G>A (p.Leu514=)	single nucleotide variant	ATL1-related disorder [RCV003930921]\|Hereditary spastic paraplegia 3A [RCV001433108]	Chr14:50628453 [GRCh38] Chr14:51095171 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.118G>T (p.Val40Phe)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001391389]	Chr14:50587914 [GRCh38] Chr14:51054632 [GRCh37] Chr14:14q22.1	pathogenic
NM_015915.5(ATL1):c.749T>C (p.Leu250Pro)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001391392]	Chr14:50614398 [GRCh38] Chr14:51081116 [GRCh37] Chr14:14q22.1	pathogenic
NM_015915.5(ATL1):c.1306A>G (p.Asn436Asp)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001391448]	Chr14:50628217 [GRCh38] Chr14:51094935 [GRCh37] Chr14:14q22.1	pathogenic\|conflicting interpretations of pathogenicity
NM_015915.5(ATL1):c.740A>G (p.His247Arg)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001376177]	Chr14:50614389 [GRCh38] Chr14:51081107 [GRCh37] Chr14:14q22.1	likely pathogenic\|conflicting interpretations of pathogenicity
NM_015915.5(ATL1):c.298G>T (p.Val100Phe)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001323791]	Chr14:50590956 [GRCh38] Chr14:51057674 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1511G>A (p.Gly504Glu)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001342040]	Chr14:50628422 [GRCh38] Chr14:51095140 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1274T>C (p.Ile425Thr)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001299340]\|not provided [RCV004720840]	Chr14:50628185 [GRCh38] Chr14:51094903 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.35-3C>T	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001314012]	Chr14:50587828 [GRCh38] Chr14:51054546 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.196G>A (p.Glu66Lys)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001341383]	Chr14:50587992 [GRCh38] Chr14:51054710 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1638G>C (p.Lys546Asn)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001341468]	Chr14:50632300 [GRCh38] Chr14:51099018 [GRCh37] Chr14:14q22.1	uncertain significance
NC_000014.8:g.(?_51026974)_(51099067_?)dup	duplication	Hereditary spastic paraplegia 3A [RCV001300955]	Chr14:51026974..51099067 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.206C>T (p.Ala69Val)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001364369]	Chr14:50588002 [GRCh38] Chr14:51054720 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.471G>T (p.Leu157Phe)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001360017]	Chr14:50591588 [GRCh38] Chr14:51058306 [GRCh37] Chr14:14q22.1	likely pathogenic\|uncertain significance
NM_015915.5(ATL1):c.701A>G (p.Lys234Arg)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001366908]\|Inborn genetic diseases [RCV002368186]	Chr14:50613329 [GRCh38] Chr14:51080047 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.470T>C (p.Leu157Ser)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001391390]	Chr14:50591587 [GRCh38] Chr14:51058305 [GRCh37] Chr14:14q22.1	pathogenic
NM_015915.5(ATL1):c.125A>T (p.Asp42Val)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001366952]	Chr14:50587921 [GRCh38] Chr14:51054639 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.751C>A (p.Gln251Lys)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001391393]	Chr14:50614400 [GRCh38] Chr14:51081118 [GRCh37] Chr14:14q22.1	pathogenic\|conflicting interpretations of pathogenicity
NM_015915.5(ATL1):c.1360G>C (p.Val454Leu)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001316182]\|Inborn genetic diseases [RCV002384399]\|not provided [RCV001751606]	Chr14:50628271 [GRCh38] Chr14:51094989 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1332A>G (p.Ala444=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001412552]	Chr14:50628243 [GRCh38] Chr14:51094961 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1207del (p.Arg403fs)	deletion	Hereditary spastic paraplegia 3A [RCV001391395]	Chr14:50628117 [GRCh38] Chr14:51094835 [GRCh37] Chr14:14q22.1	pathogenic
NM_015915.5(ATL1):c.1065C>G (p.Asn355Lys)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001391394]	Chr14:50623194 [GRCh38] Chr14:51089912 [GRCh37] Chr14:14q22.1	pathogenic
NM_015915.5(ATL1):c.575T>A (p.Leu192His)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001391391]	Chr14:50595577 [GRCh38] Chr14:51062295 [GRCh37] Chr14:14q22.1	pathogenic
NM_015915.5(ATL1):c.1543T>C (p.Trp515Arg)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001391449]	Chr14:50628454 [GRCh38] Chr14:51095172 [GRCh37] Chr14:14q22.1	pathogenic
NM_015915.5(ATL1):c.1329T>C (p.His443=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001519822]	Chr14:50628240 [GRCh38] Chr14:51094958 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.1458C>T (p.Ile486=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001523392]	Chr14:50628369 [GRCh38] Chr14:51095087 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.1047+10A>G	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001479901]	Chr14:50621909 [GRCh38] Chr14:51088627 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.654C>T (p.Asp218=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001479960]	Chr14:50613282 [GRCh38] Chr14:51080000 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1434T>C (p.Asn478=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001400616]	Chr14:50628345 [GRCh38] Chr14:51095063 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.735C>T (p.Asn245=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001503977]	Chr14:50614384 [GRCh38] Chr14:51081102 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1216A>C (p.Lys406Gln)	single nucleotide variant	Accessory ectopic thyroid tissue [RCV001849513]\|Hereditary spastic paraplegia 3A [RCV001379692]	Chr14:50628127 [GRCh38] Chr14:51094845 [GRCh37] Chr14:14q22.1	likely pathogenic\|uncertain significance
NM_015915.5(ATL1):c.318A>T (p.Pro106=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001393791]	Chr14:50590976 [GRCh38] Chr14:51057694 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1158C>T (p.Asp386=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001502153]	Chr14:50628069 [GRCh38] Chr14:51094787 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.522+10A>G	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001443332]	Chr14:50591649 [GRCh38] Chr14:51058367 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.135C>T (p.Ser45=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001439774]	Chr14:50587931 [GRCh38] Chr14:51054649 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.200T>C (p.Val67Ala)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001398337]	Chr14:50587996 [GRCh38] Chr14:51054714 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1048G>T (p.Ala350Ser)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001379963]	Chr14:50623177 [GRCh38] Chr14:51089895 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.1137A>G (p.Lys379=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001485091]	Chr14:50628048 [GRCh38] Chr14:51094766 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1552-24_1552-20del	deletion	Hereditary spastic paraplegia 3A [RCV002260340]\|Neuropathy, hereditary sensory, type 1D [RCV002260341]\|not provided [RCV001695053]	Chr14:50629967..50629971 [GRCh38] Chr14:51096685..51096689 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.1552-68_1552-67insATA	insertion	Hereditary spastic paraplegia 3A [RCV002260389]\|Neuropathy, hereditary sensory, type 1D [RCV002260390]\|not provided [RCV001717405]	Chr14:50629926..50629927 [GRCh38] Chr14:51096644..51096645 [GRCh37] Chr14:14q22.1	benign
NM_001127713.1(ATL1):c.-140+108C>T	single nucleotide variant	not provided [RCV001669761]	Chr14:50533475 [GRCh38] Chr14:51000193 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.1552-176C>T	single nucleotide variant	not provided [RCV001715304]	Chr14:50629819 [GRCh38] Chr14:51096537 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.574-57TC[11]	microsatellite	Hereditary spastic paraplegia 3A [RCV001554127]\|not provided [RCV001685519]	Chr14:50595519..50595520 [GRCh38] Chr14:51062237..51062238 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.631-7T>G	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001500101]	Chr14:50613252 [GRCh38] Chr14:51079970 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.60A>G (p.Glu20=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001478858]	Chr14:50587856 [GRCh38] Chr14:51054574 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.565C>G (p.His189Asp)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001385343]	Chr14:50593888 [GRCh38] Chr14:51060606 [GRCh37] Chr14:14q22.1	pathogenic
NM_015915.5(ATL1):c.1452C>T (p.Thr484=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001393042]	Chr14:50628363 [GRCh38] Chr14:51095081 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.570C>A (p.Leu190=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001503916]	Chr14:50593893 [GRCh38] Chr14:51060611 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1374A>G (p.Thr458=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003107228]	Chr14:50628285 [GRCh38] Chr14:51095003 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1516del (p.Ala505_Val506insTer)	deletion	not provided [RCV001756288]	Chr14:50628427 [GRCh38] Chr14:51095145 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.991G>T (p.Ala331Ser)	single nucleotide variant	not provided [RCV001726910]	Chr14:50621843 [GRCh38] Chr14:51088561 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.533T>G (p.Leu178Ter)	single nucleotide variant	not provided [RCV001755000]	Chr14:50593856 [GRCh38] Chr14:51060574 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.209T>A (p.Val70Glu)	single nucleotide variant	not provided [RCV001754485]	Chr14:50588005 [GRCh38] Chr14:51054723 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1346C>A (p.Ala449Asp)	single nucleotide variant	not provided [RCV001754316]	Chr14:50628257 [GRCh38] Chr14:51094975 [GRCh37] Chr14:14q22.1	likely pathogenic\|uncertain significance
NM_015915.5(ATL1):c.19G>A (p.Asp7Asn)	single nucleotide variant	not provided [RCV001773983]	Chr14:50560284 [GRCh38] Chr14:51027002 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.535del (p.Ser179fs)	deletion	not provided [RCV001774628]	Chr14:50593858 [GRCh38] Chr14:51060576 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1061C>T (p.Ala354Val)	single nucleotide variant	See cases [RCV004584447]	Chr14:50623190 [GRCh38] Chr14:51089908 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.38G>A (p.Gly13Glu)	single nucleotide variant	not provided [RCV003238611]	Chr14:50587834 [GRCh38] Chr14:51054552 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1242C>G (p.Ser414Arg)	single nucleotide variant	not provided [RCV001816138]	Chr14:50628153 [GRCh38] Chr14:51094871 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.1225G>A (p.Gly409Ser)	single nucleotide variant	Abnormality of the nervous system [RCV001814486]	Chr14:50628136 [GRCh38] Chr14:51094854 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.1551+41T>C	single nucleotide variant	not provided [RCV001812616]	Chr14:50628503 [GRCh38] Chr14:51095221 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1501C>G (p.Arg501Gly)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001877330]	Chr14:50628412 [GRCh38] Chr14:51095130 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1519A>G (p.Ile507Val)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001866802]\|Inborn genetic diseases [RCV003375376]	Chr14:50628430 [GRCh38] Chr14:51095148 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1650T>A (p.Thr550=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001992996]	Chr14:50632312 [GRCh38] Chr14:51099030 [GRCh37] Chr14:14q22.1	likely benign\|uncertain significance
NM_015915.5(ATL1):c.670G>A (p.Glu224Lys)	single nucleotide variant	Hereditary spastic paraplegia [RCV001848343]	Chr14:50613298 [GRCh38] Chr14:51080016 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.133T>G (p.Ser45Ala)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002043441]	Chr14:50587929 [GRCh38] Chr14:51054647 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1502G>A (p.Arg501Gln)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002018912]	Chr14:50628413 [GRCh38] Chr14:51095131 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.568C>T (p.Leu190Phe)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002047311]\|not provided [RCV002285507]	Chr14:50593891 [GRCh38] Chr14:51060609 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1460C>T (p.Thr487Ile)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002048916]	Chr14:50628371 [GRCh38] Chr14:51095089 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.341G>T (p.Gly114Val)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002006429]	Chr14:50590999 [GRCh38] Chr14:51057717 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1566+2dup	duplication	Hereditary spastic paraplegia 3A [RCV002020919]	Chr14:50630010..50630011 [GRCh38] Chr14:51096728..51096729 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1049C>T (p.Ala350Val)	single nucleotide variant	Lingual thyroid [RCV001849809]	Chr14:50623178 [GRCh38] Chr14:51089896 [GRCh37] Chr14:14q22.1	uncertain significance
GRCh37/hg19 14q21.3-22.1(chr14:50598842-52261074)	copy number gain	not specified [RCV002053103]	Chr14:50598842..52261074 [GRCh37] Chr14:14q21.3-22.1	uncertain significance
NM_015915.5(ATL1):c.115A>G (p.Ile39Val)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002028584]	Chr14:50587911 [GRCh38] Chr14:51054629 [GRCh37] Chr14:14q22.1	uncertain significance
GRCh37/hg19 14q22.1(chr14:51052117-51131803)x1	copy number loss	not provided [RCV001834367]	Chr14:51052117..51131803 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1323C>G (p.Ile441Met)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002026877]	Chr14:50628234 [GRCh38] Chr14:51094952 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.482C>T (p.Ala161Val)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002030577]	Chr14:50591599 [GRCh38] Chr14:51058317 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.1263G>C (p.Leu421Phe)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002035784]	Chr14:50628174 [GRCh38] Chr14:51094892 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1505_1506del (p.Glu502fs)	microsatellite	Hereditary spastic paraplegia 3A [RCV002013922]	Chr14:50628413..50628414 [GRCh38] Chr14:51095131..51095132 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.544G>A (p.Val182Ile)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001893789]	Chr14:50593867 [GRCh38] Chr14:51060585 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.409G>T (p.Gly137Cys)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001937898]\|Inborn genetic diseases [RCV002324316]	Chr14:50591067 [GRCh38] Chr14:51057785 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.178G>C (p.Glu60Gln)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001950632]	Chr14:50587974 [GRCh38] Chr14:51054692 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1047+20C>T	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001896807]	Chr14:50621919 [GRCh38] Chr14:51088637 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.997A>G (p.Ile333Val)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001958165]\|Inborn genetic diseases [RCV004681349]	Chr14:50621849 [GRCh38] Chr14:51088567 [GRCh37] Chr14:14q22.1	likely benign\|uncertain significance
NM_015915.5(ATL1):c.723+3_723+19del	deletion	Hereditary spastic paraplegia 3A [RCV001896995]\|Hereditary spastic paraplegia 3A [RCV002478323]	Chr14:50613350..50613366 [GRCh38] Chr14:51080068..51080084 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1514C>G (p.Ala505Gly)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001964851]	Chr14:50628425 [GRCh38] Chr14:51095143 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1074A>C (p.Ala358=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001908624]	Chr14:50623203 [GRCh38] Chr14:51089921 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.754A>C (p.Asn252His)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001907906]	Chr14:50614403 [GRCh38] Chr14:51081121 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1191A>C (p.Glu397Asp)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001935360]	Chr14:50628102 [GRCh38] Chr14:51094820 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1256A>T (p.Gln419Leu)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001945080]	Chr14:50628167 [GRCh38] Chr14:51094885 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.282G>C (p.Gln94His)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001903958]	Chr14:50588078 [GRCh38] Chr14:51054796 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.44C>T (p.Ser15Leu)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001931650]\|Inborn genetic diseases [RCV003365579]	Chr14:50587840 [GRCh38] Chr14:51054558 [GRCh37] Chr14:14q22.1	likely benign\|uncertain significance
NM_015915.5(ATL1):c.391C>T (p.Leu131Phe)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001933778]	Chr14:50591049 [GRCh38] Chr14:51057767 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.38G>C (p.Gly13Ala)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001935161]	Chr14:50587834 [GRCh38] Chr14:51054552 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.33G>C (p.Trp11Cys)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001935822]\|Inborn genetic diseases [RCV002458798]	Chr14:50560298 [GRCh38] Chr14:51027016 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.773A>T (p.His258Leu)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001970209]	Chr14:50614422 [GRCh38] Chr14:51081140 [GRCh37] Chr14:14q22.1	pathogenic
NM_015915.5(ATL1):c.1631C>T (p.Thr544Ile)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001936422]	Chr14:50632293 [GRCh38] Chr14:51099011 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1663A>G (p.Lys555Glu)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001903600]	Chr14:50632325 [GRCh38] Chr14:51099043 [GRCh37] Chr14:14q22.1	uncertain significance
NC_000014.8:g.(?_51026984)_(51081249_?)dup	duplication	Hereditary spastic paraplegia 3A [RCV001967811]	Chr14:51026984..51081249 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.86T>C (p.Val29Ala)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001986234]	Chr14:50587882 [GRCh38] Chr14:51054600 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.254A>G (p.Asp85Gly)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV001987055]	Chr14:50588050 [GRCh38] Chr14:51054768 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.35-20G>T	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002089058]	Chr14:50587811 [GRCh38] Chr14:51054529 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.522+19T>G	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002165353]	Chr14:50591658 [GRCh38] Chr14:51058376 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.466A>C (p.Thr156Pro)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002248974]	Chr14:50591583 [GRCh38] Chr14:51058301 [GRCh37] Chr14:14q22.1	pathogenic\|likely pathogenic
NM_015915.5(ATL1):c.1047+18G>A	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002126842]	Chr14:50621917 [GRCh38] Chr14:51088635 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1428A>G (p.Leu476=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002166235]	Chr14:50628339 [GRCh38] Chr14:51095057 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1288A>C (p.Ile430Leu)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003101322]\|not provided [RCV002245111]	Chr14:50628199 [GRCh38] Chr14:51094917 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1296T>C (p.Tyr432=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002165065]	Chr14:50628207 [GRCh38] Chr14:51094925 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.426G>A (p.Val142=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002188720]	Chr14:50591543 [GRCh38] Chr14:51058261 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.873T>C (p.Asp291=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002169864]	Chr14:50620609 [GRCh38] Chr14:51087327 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.35-11C>A	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002106208]	Chr14:50587820 [GRCh38] Chr14:51054538 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1245G>A (p.Arg415=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002170900]	Chr14:50628156 [GRCh38] Chr14:51094874 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.282+15C>G	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002125392]	Chr14:50588093 [GRCh38] Chr14:51054811 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.699C>T (p.Ala233=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002133597]	Chr14:50613327 [GRCh38] Chr14:51080045 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.35-10T>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002110252]	Chr14:50587821 [GRCh38] Chr14:51054539 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.927C>T (p.Ser309=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002127115]	Chr14:50620663 [GRCh38] Chr14:51087381 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.991-12C>G	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002115649]	Chr14:50621831 [GRCh38] Chr14:51088549 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.177G>C (p.Ser59=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002169238]	Chr14:50587973 [GRCh38] Chr14:51054691 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.34+10A>G	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002188750]	Chr14:50560309 [GRCh38] Chr14:51027027 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.991-3del	deletion	Hereditary spastic paraplegia 3A [RCV002126864]	Chr14:50621832 [GRCh38] Chr14:51088550 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.991-13dup	duplication	Hereditary spastic paraplegia 3A [RCV002116055]	Chr14:50621825..50621826 [GRCh38] Chr14:51088543..51088544 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.630+20T>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002079771]	Chr14:50595652 [GRCh38] Chr14:51062370 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1567-18T>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002130282]	Chr14:50632211 [GRCh38] Chr14:51098929 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.522+15C>T	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002084037]	Chr14:50591654 [GRCh38] Chr14:51058372 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1377T>C (p.Tyr459=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002183138]	Chr14:50628288 [GRCh38] Chr14:51095006 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1341C>T (p.Thr447=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002183597]	Chr14:50628252 [GRCh38] Chr14:51094970 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1119+7G>A	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002178086]	Chr14:50623255 [GRCh38] Chr14:51089973 [GRCh37] Chr14:14q22.1	likely benign
NC_000014.8:g.(?_51026984)_(51099057_?)dup	duplication	Hereditary spastic paraplegia 3A [RCV003119681]	Chr14:51026984..51099057 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.740A>C (p.His247Pro)	single nucleotide variant	not provided [RCV002251612]	Chr14:50614389 [GRCh38] Chr14:51081107 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.1070T>C (p.Leu357Ser)	single nucleotide variant	ATL1-related disorder [RCV003403782]\|Hereditary spastic paraplegia 3A [RCV002297096]	Chr14:50623199 [GRCh38] Chr14:51089917 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.299T>C (p.Val100Ala)	single nucleotide variant	not provided [RCV002261967]	Chr14:50590957 [GRCh38] Chr14:51057675 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1031C>A (p.Pro344His)	single nucleotide variant	Neurodevelopmental delay [RCV002274318]	Chr14:50621883 [GRCh38] Chr14:51088601 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.1556G>C (p.Ser519Thr)	single nucleotide variant	not provided [RCV002262439]	Chr14:50629999 [GRCh38] Chr14:51096717 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.628C>A (p.Gln210Lys)	single nucleotide variant	not provided [RCV002265163]	Chr14:50595630 [GRCh38] Chr14:51062348 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1508T>C (p.Leu503Pro)	single nucleotide variant	not provided [RCV002283086]	Chr14:50628419 [GRCh38] Chr14:51095137 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1018G>A (p.Glu340Lys)	single nucleotide variant	Neurodevelopmental delay [RCV002274317]	Chr14:50621870 [GRCh38] Chr14:51088588 [GRCh37] Chr14:14q22.1	likely pathogenic
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	copy number gain	See cases [RCV002286356]	Chr14:37671058..106985955 [GRCh37] Chr14:14q13.3-32.33	pathogenic
NM_015915.5(ATL1):c.1358T>C (p.Val453Ala)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002289328]	Chr14:50628269 [GRCh38] Chr14:51094987 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.132T>A (p.His44Gln)	single nucleotide variant	Inborn genetic diseases [RCV002385903]	Chr14:50587928 [GRCh38] Chr14:51054646 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1109A>G (p.Lys370Arg)	single nucleotide variant	Inborn genetic diseases [RCV002437275]	Chr14:50623238 [GRCh38] Chr14:51089956 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1674G>A (p.Met558Ile)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002297548]	Chr14:50632336 [GRCh38] Chr14:51099054 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1445G>T (p.Gly482Val)	single nucleotide variant	not provided [RCV002469587]	Chr14:50628356 [GRCh38] Chr14:51095074 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.574-3T>C	single nucleotide variant	Inborn genetic diseases [RCV002347801]	Chr14:50595573 [GRCh38] Chr14:51062291 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.458G>C (p.Ser153Thr)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002470667]	Chr14:50591575 [GRCh38] Chr14:51058293 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.499A>G (p.Ser167Gly)	single nucleotide variant	Inborn genetic diseases [RCV002342985]	Chr14:50591616 [GRCh38] Chr14:51058334 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1041G>T (p.Met347Ile)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003153130]	Chr14:50621893 [GRCh38] Chr14:51088611 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.308A>G (p.Tyr103Cys)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003102304]\|Inborn genetic diseases [RCV002325767]	Chr14:50590966 [GRCh38] Chr14:51057684 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.968G>A (p.Arg323Gln)	single nucleotide variant	Inborn genetic diseases [RCV002376578]	Chr14:50620704 [GRCh38] Chr14:51087422 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.788A>G (p.Asn263Ser)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003099774]\|Inborn genetic diseases [RCV002416573]	Chr14:50614437 [GRCh38] Chr14:51081155 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.574-6T>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003103225]\|Inborn genetic diseases [RCV002347811]	Chr14:50595570 [GRCh38] Chr14:51062288 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1232A>C (p.Glu411Ala)	single nucleotide variant	Inborn genetic diseases [RCV002362133]	Chr14:50628143 [GRCh38] Chr14:51094861 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.75G>C (p.Glu25Asp)	single nucleotide variant	Inborn genetic diseases [RCV002394243]	Chr14:50587871 [GRCh38] Chr14:51054589 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.412A>G (p.Lys138Glu)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002299752]	Chr14:50591070 [GRCh38] Chr14:51057788 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1673T>G (p.Met558Arg)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002302960]	Chr14:50632335 [GRCh38] Chr14:51099053 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.970G>T (p.Gly324Cys)	single nucleotide variant	Inborn genetic diseases [RCV002376695]	Chr14:50620706 [GRCh38] Chr14:51087424 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1612T>A (p.Tyr538Asn)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003611608]\|Inborn genetic diseases [RCV002394847]	Chr14:50632274 [GRCh38] Chr14:51098992 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1572G>C (p.Leu524Phe)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003774391]\|Inborn genetic diseases [RCV002405673]	Chr14:50632234 [GRCh38] Chr14:51098952 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.991-16T>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002775905]	Chr14:50621827 [GRCh38] Chr14:51088545 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.947A>G (p.Asn316Ser)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002616355]	Chr14:50620683 [GRCh38] Chr14:51087401 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.991-19T>A	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003077092]	Chr14:50621824 [GRCh38] Chr14:51088542 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1101C>A (p.Tyr367Ter)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002882206]	Chr14:50623230 [GRCh38] Chr14:51089948 [GRCh37] Chr14:14q22.1	pathogenic
NM_015915.5(ATL1):c.182C>T (p.Ala61Val)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002636166]	Chr14:50587978 [GRCh38] Chr14:51054696 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.574-19T>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002839161]	Chr14:50595557 [GRCh38] Chr14:51062275 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.271A>C (p.Met91Leu)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002842683]	Chr14:50588067 [GRCh38] Chr14:51054785 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1214T>G (p.Val405Gly)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002862650]	Chr14:50628125 [GRCh38] Chr14:51094843 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.34+3G>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002838036]	Chr14:50560302 [GRCh38] Chr14:51027020 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.304G>C (p.Asp102His)	single nucleotide variant	Inborn genetic diseases [RCV002778730]	Chr14:50590962 [GRCh38] Chr14:51057680 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.22A>C (p.Arg8=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003012113]	Chr14:50560287 [GRCh38] Chr14:51027005 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.576T>G (p.Leu192=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003039304]	Chr14:50595578 [GRCh38] Chr14:51062296 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.268T>C (p.Tyr90His)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002659245]\|not provided [RCV003151902]	Chr14:50588064 [GRCh38] Chr14:51054782 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.522+5G>A	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002847553]	Chr14:50591644 [GRCh38] Chr14:51058362 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.412A>T (p.Lys138Ter)	single nucleotide variant	not provided [RCV003037049]	Chr14:50591070 [GRCh38] Chr14:51057788 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1392G>C (p.Val464=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003037944]	Chr14:50628303 [GRCh38] Chr14:51095021 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.710A>G (p.Glu237Gly)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002953119]	Chr14:50613338 [GRCh38] Chr14:51080056 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.990+19G>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003038399]	Chr14:50620745 [GRCh38] Chr14:51087463 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.70G>C (p.Glu24Gln)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003079042]\|Inborn genetic diseases [RCV003079043]	Chr14:50587866 [GRCh38] Chr14:51054584 [GRCh37] Chr14:14q22.1	likely benign\|uncertain significance
NM_015915.5(ATL1):c.1002G>A (p.Lys334=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002867529]	Chr14:50621854 [GRCh38] Chr14:51088572 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1208G>A (p.Arg403Gln)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002780286]	Chr14:50628119 [GRCh38] Chr14:51094837 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1173C>A (p.His391Gln)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003019879]	Chr14:50628084 [GRCh38] Chr14:51094802 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.375A>G (p.Ile125Met)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002637502]	Chr14:50591033 [GRCh38] Chr14:51057751 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1369A>G (p.Ile457Val)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003021263]	Chr14:50628280 [GRCh38] Chr14:51094998 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1021_1023del (p.Leu341del)	deletion	Hereditary spastic paraplegia 3A [RCV003026230]	Chr14:50621872..50621874 [GRCh38] Chr14:51088590..51088592 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.261G>A (p.Met87Ile)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002929060]\|Inborn genetic diseases [RCV003274099]	Chr14:50588057 [GRCh38] Chr14:51054775 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.282+15C>T	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002919016]	Chr14:50588093 [GRCh38] Chr14:51054811 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.898C>A (p.Leu300Met)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002701054]\|not provided [RCV003443071]	Chr14:50620634 [GRCh38] Chr14:51087352 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.864A>C (p.Glu288Asp)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002576320]	Chr14:50620600 [GRCh38] Chr14:51087318 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.862+15A>G	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002700282]	Chr14:50614526 [GRCh38] Chr14:51081244 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.179A>C (p.Glu60Ala)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003056433]	Chr14:50587975 [GRCh38] Chr14:51054693 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.35-15T>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003082966]	Chr14:50587816 [GRCh38] Chr14:51054534 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.741T>G (p.His247Gln)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002766278]	Chr14:50614390 [GRCh38] Chr14:51081108 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.574-20G>A	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002574458]	Chr14:50595556 [GRCh38] Chr14:51062274 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.574-5del	deletion	Hereditary spastic paraplegia 3A [RCV002917219]	Chr14:50595564 [GRCh38] Chr14:51062282 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.522+25_522+27del	microsatellite	Hereditary spastic paraplegia 3A [RCV002800834]	Chr14:50591659..50591661 [GRCh38] Chr14:51058377..51058379 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.630+9G>A	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002741995]	Chr14:50595641 [GRCh38] Chr14:51062359 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.114C>T (p.Leu38=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002851822]	Chr14:50587910 [GRCh38] Chr14:51054628 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1267A>G (p.Ser423Gly)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002595845]	Chr14:50628178 [GRCh38] Chr14:51094896 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1347C>T (p.Ala449=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002595172]	Chr14:50628258 [GRCh38] Chr14:51094976 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.55T>A (p.Tyr19Asn)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002829483]	Chr14:50587851 [GRCh38] Chr14:51054569 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.35-8T>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003023308]	Chr14:50587823 [GRCh38] Chr14:51054541 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.990+9C>G	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003005558]	Chr14:50620735 [GRCh38] Chr14:51087453 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1201C>T (p.Leu401=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003085030]	Chr14:50628112 [GRCh38] Chr14:51094830 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1512A>G (p.Gly504=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002894486]	Chr14:50628423 [GRCh38] Chr14:51095141 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.418-14C>G	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002711900]	Chr14:50591521 [GRCh38] Chr14:51058239 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.916A>G (p.Ser306Gly)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003041206]	Chr14:50620652 [GRCh38] Chr14:51087370 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.631-9_631-7del	microsatellite	Hereditary spastic paraplegia 3A [RCV003024155]	Chr14:50613245..50613247 [GRCh38] Chr14:51079963..51079965 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1639T>G (p.Ser547Ala)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002577605]	Chr14:50632301 [GRCh38] Chr14:51099019 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.573+24dup	duplication	Hereditary spastic paraplegia 3A [RCV003060714]	Chr14:50593914..50593915 [GRCh38] Chr14:51060632..51060633 [GRCh37] Chr14:14q22.1	benign
NM_015915.5(ATL1):c.418-19G>A	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003090920]	Chr14:50591516 [GRCh38] Chr14:51058234 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.863-12T>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003065943]	Chr14:50620587 [GRCh38] Chr14:51087305 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1415T>G (p.Ile472Ser)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002900182]	Chr14:50628326 [GRCh38] Chr14:51095044 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1309G>A (p.Asp437Asn)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003089743]	Chr14:50628220 [GRCh38] Chr14:51094938 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1484G>A (p.Arg495Gln)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002599329]	Chr14:50628395 [GRCh38] Chr14:51095113 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.875A>G (p.Glu292Gly)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002670757]	Chr14:50620611 [GRCh38] Chr14:51087329 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1665G>T (p.Lys555Asn)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003028164]	Chr14:50632327 [GRCh38] Chr14:51099045 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.573+14T>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002600524]	Chr14:50593910 [GRCh38] Chr14:51060628 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.584A>C (p.Glu195Ala)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002807138]	Chr14:50595586 [GRCh38] Chr14:51062304 [GRCh37] Chr14:14q22.1	pathogenic
NM_015915.5(ATL1):c.1134C>G (p.Asp378Glu)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003044245]	Chr14:50628045 [GRCh38] Chr14:51094763 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1120-11_1120-8del	deletion	Hereditary spastic paraplegia 3A [RCV003088482]	Chr14:50628017..50628020 [GRCh38] Chr14:51094735..51094738 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.990+14T>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002959162]	Chr14:50620740 [GRCh38] Chr14:51087458 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.991-12_991-11del	deletion	Hereditary spastic paraplegia 3A [RCV003051346]	Chr14:50621830..50621831 [GRCh38] Chr14:51088548..51088549 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.34+16G>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002726156]	Chr14:50560315 [GRCh38] Chr14:51027033 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1120-10T>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003069401]	Chr14:50628021 [GRCh38] Chr14:51094739 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.283-16C>G	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003071477]	Chr14:50590925 [GRCh38] Chr14:51057643 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.35G>A (p.Gly12Asp)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002587623]	Chr14:50587831 [GRCh38] Chr14:51054549 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.884A>G (p.Lys295Arg)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002610381]\|Inborn genetic diseases [RCV004673805]	Chr14:50620620 [GRCh38] Chr14:51087338 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1336C>T (p.Arg446Cys)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003072717]	Chr14:50628247 [GRCh38] Chr14:51094965 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1311T>C (p.Asp437=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003093311]	Chr14:50628222 [GRCh38] Chr14:51094940 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1077C>T (p.Ala359=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002605340]	Chr14:50623206 [GRCh38] Chr14:51089924 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1337G>A (p.Arg446His)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV002590195]	Chr14:50628248 [GRCh38] Chr14:51094966 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1229G>C (p.Gly410Ala)	single nucleotide variant	not provided [RCV003141648]	Chr14:50628140 [GRCh38] Chr14:51094858 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1602C>A (p.His534Gln)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003502696]\|not provided [RCV003141647]	Chr14:50632264 [GRCh38] Chr14:51098982 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.713A>G (p.Lys238Arg)	single nucleotide variant	not provided [RCV003141646]	Chr14:50613341 [GRCh38] Chr14:51080059 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.417+1G>T	single nucleotide variant	not provided [RCV003142714]	Chr14:50591076 [GRCh38] Chr14:51057794 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.208G>T (p.Val70Leu)	single nucleotide variant	not provided [RCV003219067]	Chr14:50588004 [GRCh38] Chr14:51054722 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.656G>A (p.Trp219Ter)	single nucleotide variant	Hereditary spastic paraplegia [RCV003229541]	Chr14:50613284 [GRCh38] Chr14:51080002 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.1208G>C (p.Arg403Pro)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003320400]	Chr14:50628119 [GRCh38] Chr14:51094837 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.1120-1086T>C	single nucleotide variant	not provided [RCV003322225]	Chr14:50626945 [GRCh38] Chr14:51093663 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1430G>C (p.Cys477Ser)	single nucleotide variant	not provided [RCV003329933]	Chr14:50628341 [GRCh38] Chr14:51095059 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.404C>T (p.Pro135Leu)	single nucleotide variant	not provided [RCV003325737]	Chr14:50591062 [GRCh38] Chr14:51057780 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.*87C>G	single nucleotide variant	not provided [RCV003326892]	Chr14:50632426 [GRCh38] Chr14:51099144 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.439A>T (p.Thr147Ser)	single nucleotide variant	not provided [RCV003326891]	Chr14:50591556 [GRCh38] Chr14:51058274 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.522+1G>T	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003384313]	Chr14:50591640 [GRCh38] Chr14:51058358 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.417+4T>A	single nucleotide variant	not provided [RCV003393423]	Chr14:50591079 [GRCh38] Chr14:51057797 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1048-7T>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003873357]	Chr14:50623170 [GRCh38] Chr14:51089888 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.177G>A (p.Ser59=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003504305]	Chr14:50587973 [GRCh38] Chr14:51054691 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.283-20del	deletion	Hereditary spastic paraplegia 3A [RCV003503528]	Chr14:50590921 [GRCh38] Chr14:51057639 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1376A>G (p.Tyr459Cys)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003504579]	Chr14:50628287 [GRCh38] Chr14:51095005 [GRCh37] Chr14:14q22.1	likely pathogenic
NM_015915.5(ATL1):c.1037C>T (p.Ser346Phe)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003504241]	Chr14:50621889 [GRCh38] Chr14:51088607 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1566+10A>T	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003504313]	Chr14:50630019 [GRCh38] Chr14:51096737 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.48A>C (p.Glu16Asp)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003503977]	Chr14:50587844 [GRCh38] Chr14:51054562 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.192C>T (p.Asp64=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003504172]	Chr14:50587988 [GRCh38] Chr14:51054706 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1197G>C (p.Val399=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003874106]	Chr14:50628108 [GRCh38] Chr14:51094826 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.582T>G (p.Thr194=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003504309]	Chr14:50595584 [GRCh38] Chr14:51062302 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.450C>A (p.Thr150=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003504362]	Chr14:50591567 [GRCh38] Chr14:51058285 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1221G>C (p.Lys407Asn)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003504578]	Chr14:50628132 [GRCh38] Chr14:51094850 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.531C>T (p.Asn177=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003503070]	Chr14:50593854 [GRCh38] Chr14:51060572 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.54A>G (p.Thr18=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003873299]	Chr14:50587850 [GRCh38] Chr14:51054568 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.35-1G>A	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003502917]	Chr14:50587830 [GRCh38] Chr14:51054548 [GRCh37] Chr14:14q22.1	likely pathogenic
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	copy number gain	not provided [RCV003485022]	Chr14:20511673..61826023 [GRCh37] Chr14:14q11.2-23.1	pathogenic
NM_015915.5(ATL1):c.218C>T (p.Ala73Val)	single nucleotide variant	ATL1-related disorder [RCV003397779]	Chr14:50588014 [GRCh38] Chr14:51054732 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.709G>A (p.Glu237Lys)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003455853]	Chr14:50613337 [GRCh38] Chr14:51080055 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.630+15A>T	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003825797]	Chr14:50595647 [GRCh38] Chr14:51062365 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1006T>C (p.Tyr336His)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV004796429]	Chr14:50621858 [GRCh38] Chr14:51088576 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1212G>A (p.Gly404=)	single nucleotide variant	not provided [RCV003393426]	Chr14:50628123 [GRCh38] Chr14:51094841 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1269T>G (p.Ser423Arg)	single nucleotide variant	not provided [RCV003393427]	Chr14:50628180 [GRCh38] Chr14:51094898 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.630+6C>T	single nucleotide variant	not provided [RCV003393425]	Chr14:50595638 [GRCh38] Chr14:51062356 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.486A>G (p.Thr162=)	single nucleotide variant	not provided [RCV003393424]	Chr14:50591603 [GRCh38] Chr14:51058321 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.283-20T>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003879302]	Chr14:50590921 [GRCh38] Chr14:51057639 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.602T>C (p.Met201Thr)	single nucleotide variant	not provided [RCV003490489]	Chr14:50595604 [GRCh38] Chr14:51062322 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1611G>C (p.Leu537=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003877377]	Chr14:50632273 [GRCh38] Chr14:51098991 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1449G>C (p.Leu483=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003825715]	Chr14:50628360 [GRCh38] Chr14:51095078 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1485G>C (p.Arg495=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003612510]	Chr14:50628396 [GRCh38] Chr14:51095114 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1119+19A>G	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003612423]	Chr14:50623267 [GRCh38] Chr14:51089985 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1423A>G (p.Ser475Gly)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003611467]	Chr14:50628334 [GRCh38] Chr14:51095052 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.583G>A (p.Glu195Lys)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003612676]	Chr14:50595585 [GRCh38] Chr14:51062303 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.574C>G (p.Leu192Val)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003612723]	Chr14:50595576 [GRCh38] Chr14:51062294 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.631-20C>G	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003611695]	Chr14:50613239 [GRCh38] Chr14:51079957 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.249G>A (p.Leu83=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003611797]	Chr14:50588045 [GRCh38] Chr14:51054763 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.418-8G>T	single nucleotide variant	not provided [RCV003740616]	Chr14:50591527 [GRCh38] Chr14:51058245 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.126T>C (p.Asp42=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003612204]	Chr14:50587922 [GRCh38] Chr14:51054640 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.111C>A (p.Val37=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003612242]	Chr14:50587907 [GRCh38] Chr14:51054625 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1203A>T (p.Leu401=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003611148]	Chr14:50628114 [GRCh38] Chr14:51094832 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.282+18T>G	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003611447]	Chr14:50588096 [GRCh38] Chr14:51054814 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1566+10dup	duplication	Hereditary spastic paraplegia 3A [RCV003612132]	Chr14:50630016..50630017 [GRCh38] Chr14:51096734..51096735 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.34+6T>G	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003612144]	Chr14:50560305 [GRCh38] Chr14:51027023 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.763A>G (p.Lys255Glu)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003612648]	Chr14:50614412 [GRCh38] Chr14:51081130 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1035A>G (p.Lys345=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003612177]	Chr14:50621887 [GRCh38] Chr14:51088605 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.724-9T>G	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003856603]	Chr14:50614364 [GRCh38] Chr14:51081082 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.348T>C (p.Ser116=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003612306]	Chr14:50591006 [GRCh38] Chr14:51057724 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1030_1040del (p.Pro344fs)	deletion	Hereditary spastic paraplegia 3A [RCV003612879]	Chr14:50621879..50621889 [GRCh38] Chr14:51088597..51088607 [GRCh37] Chr14:14q22.1	pathogenic
NM_015915.5(ATL1):c.35-16C>T	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003611862]	Chr14:50587815 [GRCh38] Chr14:51054533 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.552G>A (p.Glu184=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003611715]	Chr14:50593875 [GRCh38] Chr14:51060593 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.421G>T (p.Ala141Ser)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003611768]	Chr14:50591538 [GRCh38] Chr14:51058256 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.317C>G (p.Pro106Arg)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003612969]	Chr14:50590975 [GRCh38] Chr14:51057693 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1567-12del	deletion	Hereditary spastic paraplegia 3A [RCV003502225]	Chr14:50632217 [GRCh38] Chr14:51098935 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.574C>A (p.Leu192Ile)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003613197]	Chr14:50595576 [GRCh38] Chr14:51062294 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.634C>T (p.Leu212=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003613360]	Chr14:50613262 [GRCh38] Chr14:51079980 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.463T>C (p.Ser155Pro)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003611027]	Chr14:50591580 [GRCh38] Chr14:51058298 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1079T>G (p.Val360Gly)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003502217]	Chr14:50623208 [GRCh38] Chr14:51089926 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1129G>A (p.Gly377Ser)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003502473]	Chr14:50628040 [GRCh38] Chr14:51094758 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1259A>C (p.Gln420Pro)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003612268]	Chr14:50628170 [GRCh38] Chr14:51094888 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1144C>G (p.Leu382Val)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003612809]	Chr14:50628055 [GRCh38] Chr14:51094773 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.336G>A (p.Trp112Ter)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003613515]	Chr14:50590994 [GRCh38] Chr14:51057712 [GRCh37] Chr14:14q22.1	pathogenic
NM_015915.5(ATL1):c.1097C>T (p.Thr366Ile)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003612999]	Chr14:50623226 [GRCh38] Chr14:51089944 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.34+16G>T	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003821978]	Chr14:50560315 [GRCh38] Chr14:51027033 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1551+10C>T	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003844502]	Chr14:50628472 [GRCh38] Chr14:51095190 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.1552G>A (p.Gly518Arg)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003859266]	Chr14:50629995 [GRCh38] Chr14:51096713 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1047+4T>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003868612]	Chr14:50621903 [GRCh38] Chr14:51088621 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.996T>C (p.Tyr332=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003845344]	Chr14:50621848 [GRCh38] Chr14:51088566 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.444G>A (p.Gln148=)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003865386]	Chr14:50591561 [GRCh38] Chr14:51058279 [GRCh37] Chr14:14q22.1	likely benign
NM_015915.5(ATL1):c.26A>G (p.Asn9Ser)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003821896]	Chr14:50560291 [GRCh38] Chr14:51027009 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.271A>G (p.Met91Val)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003842439]	Chr14:50588067 [GRCh38] Chr14:51054785 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1614TCA[1] (p.His539del)	microsatellite	Inborn genetic diseases [RCV004425437]	Chr14:50632275..50632277 [GRCh38] Chr14:51098993..51098995 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.991-12_991-11insA	insertion	Hereditary spastic paraplegia 3A [RCV003991857]	Chr14:50621831..50621832 [GRCh38] Chr14:51088549..51088550 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.509T>C (p.Ile170Thr)	single nucleotide variant	Inborn genetic diseases [RCV004425439]	Chr14:50591626 [GRCh38] Chr14:51058344 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.749T>G (p.Leu250Arg)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003985013]	Chr14:50614398 [GRCh38] Chr14:51081116 [GRCh37] Chr14:14q22.1	not provided
NM_015915.5(ATL1):c.1566+1G>C	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV003989354]	Chr14:50630010 [GRCh38] Chr14:51096728 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1370T>C (p.Ile457Thr)	single nucleotide variant	not provided [RCV004546988]	Chr14:50628281 [GRCh38] Chr14:51094999 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.701A>T (p.Lys234Ile)	single nucleotide variant	Hereditary spastic paraplegia 3A [RCV004594893]	Chr14:50613329 [GRCh38] Chr14:51080047 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.959T>C (p.Ile320Thr)	single nucleotide variant	Inborn genetic diseases [RCV004670678]	Chr14:50620695 [GRCh38] Chr14:51087413 [GRCh37] Chr14:14q22.1	uncertain significance
NC_000014.8:g.(?_51087297)_(51095200_?)del	deletion	Hereditary spastic paraplegia 3A [RCV004578131]	Chr14:51087297..51095200 [GRCh37] Chr14:14q22.1	pathogenic
NM_015915.5(ATL1):c.311A>T (p.Asn104Ile)	single nucleotide variant	Inborn genetic diseases [RCV004670649]	Chr14:50590969 [GRCh38] Chr14:51057687 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1553G>C (p.Gly518Ala)	single nucleotide variant	Inborn genetic diseases [RCV004670673]	Chr14:50629996 [GRCh38] Chr14:51096714 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.955A>C (p.Lys319Gln)	single nucleotide variant	Inborn genetic diseases [RCV004670658]	Chr14:50620691 [GRCh38] Chr14:51087409 [GRCh37] Chr14:14q22.1	uncertain significance
NC_000014.8:g.(?_51087297)_(51099057_?)del	deletion	Hereditary spastic paraplegia 3A [RCV004578132]	Chr14:51087297..51099057 [GRCh37] Chr14:14q22.1	uncertain significance
NC_000014.8:g.(?_50697895)_(51288774_?)dup	duplication	Noonan syndrome 9 [RCV004578162]	Chr14:50697895..51288774 [GRCh37] Chr14:14q21.3-22.1	uncertain significance
NM_015915.5(ATL1):c.1616A>C (p.His539Pro)	single nucleotide variant	Inborn genetic diseases [RCV004679224]	Chr14:50632278 [GRCh38] Chr14:51098996 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1469C>T (p.Thr490Ile)	single nucleotide variant	not provided [RCV004793991]	Chr14:50628380 [GRCh38] Chr14:51095098 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.1237T>A (p.Phe413Ile)	single nucleotide variant	not provided [RCV004769521]	Chr14:50628148 [GRCh38] Chr14:51094866 [GRCh37] Chr14:14q22.1	uncertain significance
NM_015915.5(ATL1):c.680A>G (p.Tyr227Cys)	single nucleotide variant	not provided [RCV004775176]	Chr14:50613308 [GRCh38] Chr14:51080026 [GRCh37] Chr14:14q22.1	uncertain significance
GRCh37/hg19 14q22.1(chr14:50911699-51132124)x4	copy number gain	Neuropathy, hereditary sensory, type 1D [RCV004767757]	Chr14:50911699..51132124 [GRCh37] Chr14:14q22.1	likely pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1611
Count of miRNA genes:	671
Interacting mature miRNAs:	774
Transcripts:	ENST00000354525, ENST00000357032, ENST00000358385, ENST00000441560, ENST00000553509, ENST00000553746, ENST00000554886, ENST00000555266, ENST00000555960, ENST00000556067, ENST00000556478, ENST00000557735
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
597527452	GWAS1623526_H	pulse pressure measurement QTL GWAS1623526 (human)		0.000002	pulse pressure measurement	pulse pressure (CMO:0000292)	14	50595444	50595445	Human
597141714	GWAS1237788_H	chronic obstructive pulmonary disease QTL GWAS1237788 (human)		5e-08	lung integrity trait (VT:0010906)		14	50626424	50626425	Human
597124479	GWAS1220553_H	calcium measurement QTL GWAS1220553 (human)		1e-08	calcium measurement	blood calcium level (CMO:0000502)	14	50534052	50534053	Human
407051944	GWAS700920_H	neuropsychological test QTL GWAS700920 (human)		0.0000003	neuropsychological test		14	50617517	50617518	Human
597517649	GWAS1613723_H	systolic blood pressure QTL GWAS1613723 (human)		5e-08	systolic blood pressure	systolic blood pressure (CMO:0000004)	14	50595444	50595445	Human
597074715	GWAS1170789_H	Dupuytren Contracture QTL GWAS1170789 (human)		2e-17	Dupuytren Contracture		14	50607743	50607744	Human
597589678	GWAS1646538_H	Dupuytren Contracture QTL GWAS1646538 (human)		1e-12	Dupuytren Contracture		14	50607743	50607744	Human
597255055	GWAS1351129_H	urate measurement, bone density QTL GWAS1351129 (human)		2e-09	bone mineral mass (VT:0005007)	bone mineral density (CMO:0001226)	14	50574326	50574327	Human
597617256	GWAS1674116_H	Dupuytren Contracture QTL GWAS1674116 (human)		6e-12	Dupuytren Contracture		14	50607743	50607744	Human
597044704	GWAS1140778_H	body height QTL GWAS1140778 (human)		5e-09	body height (VT:0001253)	body height (CMO:0000106)	14	50627027	50627028	Human
597442980	GWAS1539054_H	serum metabolite measurement QTL GWAS1539054 (human)		0.000008	serum metabolite measurement		14	50545352	50545353	Human
597473093	GWAS1569167_H	systolic blood pressure QTL GWAS1569167 (human)		1e-09	systolic blood pressure	systolic blood pressure (CMO:0000004)	14	50595444	50595445	Human
597053356	GWAS1149430_H	cardiovascular disease QTL GWAS1149430 (human)		9e-08	cardiovascular disease		14	50626424	50626425	Human

Markers in Region

WI-16395

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	51,099,841 - 51,099,969	UniSTS	GRCh37
Build 36	14	50,169,591 - 50,169,719	RGD	NCBI36
Celera	14	30,966,868 - 30,966,996	RGD
Cytogenetic Map	14	q22.1	UniSTS
Cytogenetic Map	14	q13-q23	UniSTS
HuRef	14	31,225,415 - 31,225,543	UniSTS
GeneMap99-GB4 RH Map	14	113.5	UniSTS
Whitehead-RH Map	14	174.7	UniSTS
NCBI RH Map	14	461.5	UniSTS

G17830

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	51,075,981 - 51,076,288	UniSTS	GRCh37
Build 36	14	50,145,731 - 50,146,038	RGD	NCBI36
Celera	14	30,943,005 - 30,943,312	RGD
Cytogenetic Map	14	q22.1	UniSTS
HuRef	14	31,201,382 - 31,201,689	UniSTS

RH98833

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	51,099,003 - 51,099,191	UniSTS	GRCh37
Build 36	14	50,168,753 - 50,168,941	RGD	NCBI36
Celera	14	30,966,030 - 30,966,218	RGD
Cytogenetic Map	14	q22.1	UniSTS
Cytogenetic Map	14	q13-q23	UniSTS
HuRef	14	31,224,577 - 31,224,765	UniSTS
GeneMap99-GB4 RH Map	14	113.4	UniSTS

SHGC-79145

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	51,081,141 - 51,081,428	UniSTS	GRCh37
Build 36	14	50,150,891 - 50,151,178	RGD	NCBI36
Celera	14	30,948,165 - 30,948,452	RGD
Cytogenetic Map	14	q22.1	UniSTS
HuRef	14	31,206,542 - 31,206,829	UniSTS

HSC2BE052

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	51,099,135 - 51,099,339	UniSTS	GRCh37
Build 36	14	50,168,885 - 50,169,089	RGD	NCBI36
Celera	14	30,966,162 - 30,966,366	RGD
Cytogenetic Map	14	q22.1	UniSTS
Cytogenetic Map	14	q13-q23	UniSTS
HuRef	14	31,224,709 - 31,224,913	UniSTS
GeneMap99-GB4 RH Map	14	115.84	UniSTS
Whitehead-RH Map	14	174.8	UniSTS
NCBI RH Map	14	461.5	UniSTS

G35761

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	51,032,483 - 51,032,694	UniSTS	GRCh37
Build 36	14	50,102,233 - 50,102,444	RGD	NCBI36
Celera	14	30,899,504 - 30,899,715	RGD
Cytogenetic Map	14	q22.1	UniSTS
HuRef	14	31,157,957 - 31,158,168	UniSTS

G35806

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	51,096,354 - 51,096,502	UniSTS	GRCh37
Build 36	14	50,166,104 - 50,166,252	RGD	NCBI36
Celera	14	30,963,376 - 30,963,524	RGD
Cytogenetic Map	14	q22.1	UniSTS
HuRef	14	31,221,923 - 31,222,071	UniSTS

G54794

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	51,087,857 - 51,088,128	UniSTS	GRCh37
Celera	14	30,954,878 - 30,955,149	UniSTS
Cytogenetic Map	14	q22.1	UniSTS
HuRef	14	31,213,252 - 31,213,523	UniSTS

btcn28117

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	51,094,758 - 51,095,144	UniSTS	GRCh37
Celera	14	30,961,780 - 30,962,166	UniSTS
HuRef	14	31,220,155 - 31,220,541	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	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2437	2788	2247	4972	1717	2341	5	614	1936	456	2269	7270	6449	52	3734	1	849	1741	1615	174	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_009028	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001127713	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_015915	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_181598	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047431430	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054376164	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054376165	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054376166	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF131801	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF444143	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK223436	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK290185	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK312518	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL118556	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL606834	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL833591	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW674605	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY032844	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC010708	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG704589	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI601372	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471078	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068264	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CQ860306	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR457153	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA088230	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA397302	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178621	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178622	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178623	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178624	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	R61338	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000358385 ⟹ ENSP00000351155

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,560,145 - 50,633,045 (+)	Ensembl

Ensembl Acc Id:

ENST00000441560 ⟹ ENSP00000413675

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,533,026 - 50,633,049 (+)	Ensembl

Ensembl Acc Id:

ENST00000553509 ⟹ ENSP00000450989

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,559,552 - 50,634,017 (+)	Ensembl

Ensembl Acc Id:

ENST00000553746

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,560,065 - 50,592,811 (+)	Ensembl

Ensembl Acc Id:

ENST00000554886 ⟹ ENSP00000452074

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,560,131 - 50,613,286 (+)	Ensembl

Ensembl Acc Id:

ENST00000555266 ⟹ ENSP00000450897

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,614,379 - 50,628,151 (+)	Ensembl

Ensembl Acc Id:

ENST00000555960 ⟹ ENSP00000452506

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,559,087 - 50,590,957 (+)	Ensembl

Ensembl Acc Id:

ENST00000556067 ⟹ ENSP00000451100

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,628,166 - 50,632,320 (+)	Ensembl

Ensembl Acc Id:

ENST00000556478 ⟹ ENSP00000501428

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,532,509 - 50,634,017 (+)	Ensembl

Ensembl Acc Id:

ENST00000557735 ⟹ ENSP00000451015

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,560,287 - 50,632,603 (+)	Ensembl

Ensembl Acc Id:

ENST00000674288 ⟹ ENSP00000501522

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,560,065 - 50,634,017 (+)	Ensembl

Ensembl Acc Id:

ENST00000674478

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,559,932 - 50,594,668 (+)	Ensembl

Ensembl Acc Id:

ENST00000674503 ⟹ ENSP00000501520

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,561,198 - 50,632,766 (+)	Ensembl

Ensembl Acc Id:

ENST00000682037 ⟹ ENSP00000508289

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,559,932 - 50,632,640 (+)	Ensembl

Ensembl Acc Id:

ENST00000682219

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,532,628 - 50,632,660 (+)	Ensembl

Ensembl Acc Id:

ENST00000682226

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,559,932 - 50,592,757 (+)	Ensembl

Ensembl Acc Id:

ENST00000682487

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,559,932 - 50,623,811 (+)	Ensembl

Ensembl Acc Id:

ENST00000683037

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,595,082 - 50,632,656 (+)	Ensembl

Ensembl Acc Id:

ENST00000683315

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,629,618 - 50,632,573 (+)	Ensembl

Ensembl Acc Id:

ENST00000683330

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,559,932 - 50,629,553 (+)	Ensembl

Ensembl Acc Id:

ENST00000683703

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,559,932 - 50,597,206 (+)	Ensembl

Ensembl Acc Id:

ENST00000683837

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,559,932 - 50,624,993 (+)	Ensembl

Ensembl Acc Id:

ENST00000684737

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,559,932 - 50,594,883 (+)	Ensembl

Ensembl Acc Id:

ENST00000713928 ⟹ ENSP00000519225

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,532,796 - 50,633,060 (+)	Ensembl

Ensembl Acc Id:

ENST00000713929 ⟹ ENSP00000519226

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,560,147 - 50,632,673 (+)	Ensembl

Ensembl Acc Id:

ENST00000713930 ⟹ ENSP00000519227

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,560,188 - 50,634,017 (+)	Ensembl

Ensembl Acc Id:

ENST00000713931 ⟹ ENSP00000519228

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	50,560,745 - 50,632,604 (+)	Ensembl

RefSeq Acc Id:

NM_001127713 ⟹ NP_001121185

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	50,533,082 - 50,633,068 (+)	NCBI
GRCh37	14	50,999,800 - 51,099,786 (+)	ENTREZGENE
HuRef	14	31,125,093 - 31,225,360 (+)	ENTREZGENE
CHM1_1	14	50,938,361 - 51,038,328 (+)	NCBI
T2T-CHM13v2.0	14	44,739,259 - 44,839,213 (+)	NCBI

Sequence:

show sequence

AGTTTGAGGCTGCACTGCACACCTGCACAACCTGCCTTCTACTTAGTTCTTCTGAGACATTTCT
GAAAGTCTGAATTCCTAGGACTGCTCAATGACCTTTGTCCCTGTTGGGCACACGCAGTGTCTCA
TCGCTGGTATTGCACCTTTAATGAGACCAGGAGTTCCGCAAAAGTAAAACAAAGGGGTCACAGA
CTGGTTCTGGTTCTACCACTTCCTCAGTATGTGCTCTGGGACAAAACAGCATATTTGGCAACAT
CTCGGTGTCCTTATCTGCAGCTTGAAGAGGCGCCACAGCAACATCCTCAGAGTCTGAGCGAACT
GCGCCCAGCGCGGGCACGGAGCCTCCCACCGCCAGCAACCTGCGGCCCCGGAGAAGGCAGCGAG
CGCAGTGACAGCGCCTCACCGCCACCAGCTCCTGGACCACCATGGCCAAGAACCGCAGGGACAG
AAACAGTTGGGGTGGATTTTCGGAAAAGACATATGAATGGAGCTCAGAAGAGGAGGAGCCAGTG
AAAAAGGCAGGACCAGTCCAAGTCCTCATTGTCAAAGATGACCATTCCTTTGAGTTAGATGAAA
CTGCATTAAATCGGATCCTTCTCTCGGAGGCTGTCAGAGACAAGGAGGTTGTTGCTGTATCTGT
TGCTGGAGCATTTAGAAAAGGAAAATCATTCCTGATGGACTTCATGTTGAGATACATGTACAAC
CAGGAATCAGTTGATTGGGTTGGAGACTACAATGAACCATTGACTGGTTTTTCATGGAGAGGTG
GATCTGAGCGAGAGACCACAGGAATTCAGATATGGAGTGAAATCTTCCTTATCAATAAACCTGA
TGGTAAAAAGGTTGCAGTGTTATTGATGGATACTCAGGGAACCTTTGATAGTCAGTCAACTTTG
AGAGATTCAGCCACAGTATTTGCCCTTAGCACAATGATCAGCTCAATACAGGTATATAACTTAT
CCCAAAATGTCCAGGAGGATGATCTTCAGCACCTCCAGCTTTTCACTGAGTATGGCAGACTGGC
AATGGAGGAAACATTCCTGAAGCCATTTCAGAGTCTGATATTTCTTGTTCGAGACTGGAGTTTC
CCATACGAATTTTCATATGGAGCCGATGGTGGTGCCAAATTCTTGGAAAAACGCCTCAAGGTCT
CAGGGAACCAGCATGAAGAACTACAGAACGTCAGAAAACACATCCATTCCTGTTTCACCAACAT
TTCCTGTTTTCTGCTACCTCATCCTGGCTTAAAAGTAGCTACCAATCCAAACTTTGATGGAAAA
TTGAAAGAAATAGATGATGAATTCATCAAAAACTTGAAAATACTGATTCCTTGGCTACTTAGTC
CCGAGAGCCTAGATATTAAAGAGATCAATGGGAATAAAATCACCTGCCGGGGTCTGGTGGAGTA
CTTCAAGGCTTATATAAAGATCTATCAAGGTGAAGAATTACCACATCCCAAATCCATGTTACAG
GCCACAGCAGAAGCTAACAATTTAGCAGCCGTGGCAACTGCCAAGGACACATACAACAAAAAAA
TGGAAGAGATTTGTGGTGGTGACAAACCATTTCTGGCCCCAAATGACTTGCAGACCAAACACCT
GCAACTTAAGGAAGAATCTGTGAAGCTATTCCGAGGGGTGAAGAAGATGGGTGGGGAAGAATTT
AGCCGGCGTTACCTGCAGCAGTTGGAGAGTGAAATAGATGAACTTTACATCCAATATATCAAGC
ACAATGATAGCAAAAATATCTTCCATGCAGCTCGTACCCCAGCCACACTGTTTGTAGTCATCTT
TATCACATATGTGATTGCTGGTGTGACTGGATTCATTGGTTTGGACATCATAGCTAGCCTATGC
AATATGATAATGGGACTGACCCTTATCACCCTGTGCACTTGGGCATATATCCGGTACTCTGGAG
AATACCGAGAGCTGGGAGCTGTAATAGACCAGGTGGCTGCAGCTCTGTGGGACCAGGCTTTGTA
CAAGCTTTACAGTGCAGCAGCAACCCACAGACATCTGTATCATCAAGCTTTCCCTACACCAAAG
TCGGAATCTACTGAACAATCAGAAAAGAAAAAAATGTAATGCAAATTTTAAGAAATACAGGTGC
ATGACCAATTGTCAATTAAATATTCAGTTTTATGTCTCCATGCAAACATTCAAAGTGCTTCCAT
CAGAACGGAGTAAAATACTAAACACCTCTGAAGACTGCAAACTGGATTAGTTCTTTTACTTCAG
TGTTTAATAAGCAGATGTATGTATGCATGGTTATACTATTTTGTTAACATGTACAATTTCCTGA
TTTTTCTTCAAAAATGCTGTTATAAAGTATTTGTCTATTTATGATAACAGTACACGTGTTCTGC
TTGAATTTACTAAATTCTACTACTGGGTTATAATTAAATCATGTGATATTCCACGTTTGGATAT
GCTCATTTAATTTCTACAGAAAAAATTTTAAATTATTTCACATTAGCCATTTGTTAAAACACAG
CATCATAACTCAGCAGGCTGGATTTAATCTGTATCATCTTATATATATCACAATCTTATTTTTA
AGCACATTTTAGAGTTCCTTAGTTGCTTTATCAAAAACCAGATATTGCTTTTACATGGTTTAAT
AGAATATAAACCTCTTGATAAAAAATGCACAAAAAATCACTTTGTATATGTGAGTTTCACTGCA
TTGTATATTTTTTCATTTGGTACACAAAGAATGTATTCTTCATAGGTTTATTCTTTTAATATGT
GAACTATTATTAAAGTTTACTCTGGTTCCTAAGATTAAAAACAAATGCTTACTGAATTTGAAAA
AAAAA

hide sequence

RefSeq Acc Id:

NM_015915 ⟹ NP_056999

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	50,560,145 - 50,633,045 (+)	NCBI
GRCh37	14	50,999,800 - 51,099,786 (+)	ENTREZGENE
Build 36	14	50,096,500 - 50,169,141 (+)	NCBI Archive
HuRef	14	31,125,093 - 31,225,360 (+)	ENTREZGENE
CHM1_1	14	50,965,278 - 51,038,328 (+)	NCBI
T2T-CHM13v2.0	14	44,766,298 - 44,839,190 (+)	NCBI

Sequence:

show sequence

AGAGTCTGAGCGAACTGCGCCCAGCGCGGGCACGGAGCCTCCCACCGCCAGCAACCTGCGGCCC
CGGAGAAGGCAGCGAGCGCAGTGACAGCGCCTCACCGCCACCAGCTCCTGGACCACCATGGCCA
AGAACCGCAGGGACAGAAACAGTTGGGGTGGATTTTCGGAAAAGACATATGAATGGAGCTCAGA
AGAGGAGGAGCCAGTGAAAAAGGCAGGACCAGTCCAAGTCCTCATTGTCAAAGATGACCATTCC
TTTGAGTTAGATGAAACTGCATTAAATCGGATCCTTCTCTCGGAGGCTGTCAGAGACAAGGAGG
TTGTTGCTGTATCTGTTGCTGGAGCATTTAGAAAAGGAAAATCATTCCTGATGGACTTCATGTT
GAGATACATGTACAACCAGGAATCAGTTGATTGGGTTGGAGACTACAATGAACCATTGACTGGT
TTTTCATGGAGAGGTGGATCTGAGCGAGAGACCACAGGAATTCAGATATGGAGTGAAATCTTCC
TTATCAATAAACCTGATGGTAAAAAGGTTGCAGTGTTATTGATGGATACTCAGGGAACCTTTGA
TAGTCAGTCAACTTTGAGAGATTCAGCCACAGTATTTGCCCTTAGCACAATGATCAGCTCAATA
CAGGTATATAACTTATCCCAAAATGTCCAGGAGGATGATCTTCAGCACCTCCAGCTTTTCACTG
AGTATGGCAGACTGGCAATGGAGGAAACATTCCTGAAGCCATTTCAGAGTCTGATATTTCTTGT
TCGAGACTGGAGTTTCCCATACGAATTTTCATATGGAGCCGATGGTGGTGCCAAATTCTTGGAA
AAACGCCTCAAGGTCTCAGGGAACCAGCATGAAGAACTACAGAACGTCAGAAAACACATCCATT
CCTGTTTCACCAACATTTCCTGTTTTCTGCTACCTCATCCTGGCTTAAAAGTAGCTACCAATCC
AAACTTTGATGGAAAATTGAAAGAAATAGATGATGAATTCATCAAAAACTTGAAAATACTGATT
CCTTGGCTACTTAGTCCCGAGAGCCTAGATATTAAAGAGATCAATGGGAATAAAATCACCTGCC
GGGGTCTGGTGGAGTACTTCAAGGCTTATATAAAGATCTATCAAGGTGAAGAATTACCACATCC
CAAATCCATGTTACAGGCCACAGCAGAAGCTAACAATTTAGCAGCCGTGGCAACTGCCAAGGAC
ACATACAACAAAAAAATGGAAGAGATTTGTGGTGGTGACAAACCATTTCTGGCCCCAAATGACT
TGCAGACCAAACACCTGCAACTTAAGGAAGAATCTGTGAAGCTATTCCGAGGGGTGAAGAAGAT
GGGTGGGGAAGAATTTAGCCGGCGTTACCTGCAGCAGTTGGAGAGTGAAATAGATGAACTTTAC
ATCCAATATATCAAGCACAATGATAGCAAAAATATCTTCCATGCAGCTCGTACCCCAGCCACAC
TGTTTGTAGTCATCTTTATCACATATGTGATTGCTGGTGTGACTGGATTCATTGGTTTGGACAT
CATAGCTAGCCTATGCAATATGATAATGGGACTGACCCTTATCACCCTGTGCACTTGGGCATAT
ATCCGGTACTCTGGAGAATACCGAGAGCTGGGAGCTGTAATAGACCAGGTGGCTGCAGCTCTGT
GGGACCAGGGAAGTACAAATGAGGCTTTGTACAAGCTTTACAGTGCAGCAGCAACCCACAGACA
TCTGTATCATCAAGCTTTCCCTACACCAAAGTCGGAATCTACTGAACAATCAGAAAAGAAAAAA
ATGTAATGCAAATTTTAAGAAATACAGGTGCATGACCAATTGTCAATTAAATATTCAGTTTTAT
GTCTCCATGCAAACATTCAAAGTGCTTCCATCAGAACGGAGTAAAATACTAAACACCTCTGAAG
ACTGCAAACTGGATTAGTTCTTTTACTTCAGTGTTTAATAAGCAGATGTATGTATGCATGGTTA
TACTATTTTGTTAACATGTACAATTTCCTGATTTTTCTTCAAAAATGCTGTTATAAAGTATTTG
TCTATTTATGATAACAGTACACGTGTTCTGCTTGAATTTACTAAATTCTACTACTGGGTTATAA
TTAAATCATGTGATATTCCACGTTTGGATATGCTCATTTAATTTCTACAGAAAAAATTTTAAAT
TATTTCACATTAGCCATTTGTTAAAACACAGCATCATAACTCAGCAGGCTGGATTTAATCTGTA
TCATCTTATATATATCACAATCTTATTTTTAAGCACATTTTAGAGTTCCTTAGTTGCTTTATCA
AAAACCAGATATTGCTTTTACATGGTTTAATAGAATATAAACCTCTTGATAAAAAATGCACAAA
AAATCACTTTGTATATGTGAGTTTCACTGCATTGTATATTTTTTCATTTGGTACACAAAGAATG
TATTCTTCATAGGTTTATTCTTTTAATATGTGAACTATTATTAAAGTTTACTCTGGTTCCTAAG
ATTAAAAA

hide sequence

RefSeq Acc Id:

NM_181598 ⟹ NP_853629

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	50,560,145 - 50,633,068 (+)	NCBI
GRCh37	14	50,999,800 - 51,099,786 (+)	ENTREZGENE
Build 36	14	50,096,500 - 50,169,141 (+)	NCBI Archive
HuRef	14	31,125,093 - 31,225,360 (+)	ENTREZGENE
CHM1_1	14	50,965,278 - 51,038,328 (+)	NCBI
T2T-CHM13v2.0	14	44,766,298 - 44,839,213 (+)	NCBI

Sequence:

show sequence

AGAGTCTGAGCGAACTGCGCCCAGCGCGGGCACGGAGCCTCCCACCGCCAGCAACCTGCGGCCC
CGGAGAAGGCAGCGAGCGCAGTGACAGCGCCTCACCGCCACCAGCTCCTGGACCACCATGGCCA
AGAACCGCAGGGACAGAAACAGTTGGGGTGGATTTTCGGAAAAGACATATGAATGGAGCTCAGA
AGAGGAGGAGCCAGTGAAAAAGGCAGGACCAGTCCAAGTCCTCATTGTCAAAGATGACCATTCC
TTTGAGTTAGATGAAACTGCATTAAATCGGATCCTTCTCTCGGAGGCTGTCAGAGACAAGGAGG
TTGTTGCTGTATCTGTTGCTGGAGCATTTAGAAAAGGAAAATCATTCCTGATGGACTTCATGTT
GAGATACATGTACAACCAGGAATCAGTTGATTGGGTTGGAGACTACAATGAACCATTGACTGGT
TTTTCATGGAGAGGTGGATCTGAGCGAGAGACCACAGGAATTCAGATATGGAGTGAAATCTTCC
TTATCAATAAACCTGATGGTAAAAAGGTTGCAGTGTTATTGATGGATACTCAGGGAACCTTTGA
TAGTCAGTCAACTTTGAGAGATTCAGCCACAGTATTTGCCCTTAGCACAATGATCAGCTCAATA
CAGGTATATAACTTATCCCAAAATGTCCAGGAGGATGATCTTCAGCACCTCCAGCTTTTCACTG
AGTATGGCAGACTGGCAATGGAGGAAACATTCCTGAAGCCATTTCAGAGTCTGATATTTCTTGT
TCGAGACTGGAGTTTCCCATACGAATTTTCATATGGAGCCGATGGTGGTGCCAAATTCTTGGAA
AAACGCCTCAAGGTCTCAGGGAACCAGCATGAAGAACTACAGAACGTCAGAAAACACATCCATT
CCTGTTTCACCAACATTTCCTGTTTTCTGCTACCTCATCCTGGCTTAAAAGTAGCTACCAATCC
AAACTTTGATGGAAAATTGAAAGAAATAGATGATGAATTCATCAAAAACTTGAAAATACTGATT
CCTTGGCTACTTAGTCCCGAGAGCCTAGATATTAAAGAGATCAATGGGAATAAAATCACCTGCC
GGGGTCTGGTGGAGTACTTCAAGGCTTATATAAAGATCTATCAAGGTGAAGAATTACCACATCC
CAAATCCATGTTACAGGCCACAGCAGAAGCTAACAATTTAGCAGCCGTGGCAACTGCCAAGGAC
ACATACAACAAAAAAATGGAAGAGATTTGTGGTGGTGACAAACCATTTCTGGCCCCAAATGACT
TGCAGACCAAACACCTGCAACTTAAGGAAGAATCTGTGAAGCTATTCCGAGGGGTGAAGAAGAT
GGGTGGGGAAGAATTTAGCCGGCGTTACCTGCAGCAGTTGGAGAGTGAAATAGATGAACTTTAC
ATCCAATATATCAAGCACAATGATAGCAAAAATATCTTCCATGCAGCTCGTACCCCAGCCACAC
TGTTTGTAGTCATCTTTATCACATATGTGATTGCTGGTGTGACTGGATTCATTGGTTTGGACAT
CATAGCTAGCCTATGCAATATGATAATGGGACTGACCCTTATCACCCTGTGCACTTGGGCATAT
ATCCGGTACTCTGGAGAATACCGAGAGCTGGGAGCTGTAATAGACCAGGTGGCTGCAGCTCTGT
GGGACCAGGCTTTGTACAAGCTTTACAGTGCAGCAGCAACCCACAGACATCTGTATCATCAAGC
TTTCCCTACACCAAAGTCGGAATCTACTGAACAATCAGAAAAGAAAAAAATGTAATGCAAATTT
TAAGAAATACAGGTGCATGACCAATTGTCAATTAAATATTCAGTTTTATGTCTCCATGCAAACA
TTCAAAGTGCTTCCATCAGAACGGAGTAAAATACTAAACACCTCTGAAGACTGCAAACTGGATT
AGTTCTTTTACTTCAGTGTTTAATAAGCAGATGTATGTATGCATGGTTATACTATTTTGTTAAC
ATGTACAATTTCCTGATTTTTCTTCAAAAATGCTGTTATAAAGTATTTGTCTATTTATGATAAC
AGTACACGTGTTCTGCTTGAATTTACTAAATTCTACTACTGGGTTATAATTAAATCATGTGATA
TTCCACGTTTGGATATGCTCATTTAATTTCTACAGAAAAAATTTTAAATTATTTCACATTAGCC
ATTTGTTAAAACACAGCATCATAACTCAGCAGGCTGGATTTAATCTGTATCATCTTATATATAT
CACAATCTTATTTTTAAGCACATTTTAGAGTTCCTTAGTTGCTTTATCAAAAACCAGATATTGC
TTTTACATGGTTTAATAGAATATAAACCTCTTGATAAAAAATGCACAAAAAATCACTTTGTATA
TGTGAGTTTCACTGCATTGTATATTTTTTCATTTGGTACACAAAGAATGTATTCTTCATAGGTT
TATTCTTTTAATATGTGAACTATTATTAAAGTTTACTCTGGTTCCTAAGATTAAAAACAAATGC
TTACTGAATTTGAAAA

hide sequence

RefSeq Acc Id:

XM_047431430 ⟹ XP_047287386

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	50,533,082 - 50,633,068 (+)	NCBI

RefSeq Acc Id:

XM_054376164 ⟹ XP_054232139

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	14	44,739,259 - 44,839,213 (+)	NCBI

RefSeq Acc Id:

XM_054376165 ⟹ XP_054232140

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	14	44,738,771 - 44,839,213 (+)	NCBI

RefSeq Acc Id:

XM_054376166 ⟹ XP_054232141

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	14	44,738,798 - 44,839,213 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001121185	(Get FASTA)	NCBI Sequence Viewer
	NP_056999	(Get FASTA)	NCBI Sequence Viewer
	NP_853629	(Get FASTA)	NCBI Sequence Viewer
	XP_047287386	(Get FASTA)	NCBI Sequence Viewer
	XP_054232139	(Get FASTA)	NCBI Sequence Viewer
	XP_054232140	(Get FASTA)	NCBI Sequence Viewer
	XP_054232141	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD20047	(Get FASTA)	NCBI Sequence Viewer
	AAH10708	(Get FASTA)	NCBI Sequence Viewer
	AAK51160	(Get FASTA)	NCBI Sequence Viewer
	AAL37898	(Get FASTA)	NCBI Sequence Viewer
	ALQ34079	(Get FASTA)	NCBI Sequence Viewer
	ALQ34080	(Get FASTA)	NCBI Sequence Viewer
	ALQ34081	(Get FASTA)	NCBI Sequence Viewer
	ALQ34082	(Get FASTA)	NCBI Sequence Viewer
	BAD97156	(Get FASTA)	NCBI Sequence Viewer
	BAF82874	(Get FASTA)	NCBI Sequence Viewer
	CAG33434	(Get FASTA)	NCBI Sequence Viewer
	CAH10392	(Get FASTA)	NCBI Sequence Viewer
	CAH25961	(Get FASTA)	NCBI Sequence Viewer
	EAW65705	(Get FASTA)	NCBI Sequence Viewer
	EAW65706	(Get FASTA)	NCBI Sequence Viewer
	EAW65707	(Get FASTA)	NCBI Sequence Viewer
	EAW65708	(Get FASTA)	NCBI Sequence Viewer
	EAW65709	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000351155
	ENSP00000351155.7
	ENSP00000413675
	ENSP00000413675.2
	ENSP00000450897.1
	ENSP00000450989
	ENSP00000450989.2
	ENSP00000451015.2
	ENSP00000451100.1
	ENSP00000452074.1
	ENSP00000452506.1
	ENSP00000501428
	ENSP00000501428.2
	ENSP00000501520.2
	ENSP00000501522.1
	ENSP00000508289.1
	ENSP00000519225
	ENSP00000519225.1
	ENSP00000519226.1
	ENSP00000519227.1
	ENSP00000519228.1
GenBank Protein	Q8WXF7	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001121185 ⟸ NM_001127713
- Peptide Label:	isoform b
- UniProtKB:	A0A0S2Z5A2 (UniProtKB/TrEMBL), Q53F53 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAKNRRDRNSWGGFSEKTYEWSSEEEEPVKKAGPVQVLIVKDDHSFELDETALNRILLSEAVRD KEVVAVSVAGAFRKGKSFLMDFMLRYMYNQESVDWVGDYNEPLTGFSWRGGSERETTGIQIWSE IFLINKPDGKKVAVLLMDTQGTFDSQSTLRDSATVFALSTMISSIQVYNLSQNVQEDDLQHLQL FTEYGRLAMEETFLKPFQSLIFLVRDWSFPYEFSYGADGGAKFLEKRLKVSGNQHEELQNVRKH IHSCFTNISCFLLPHPGLKVATNPNFDGKLKEIDDEFIKNLKILIPWLLSPESLDIKEINGNKI TCRGLVEYFKAYIKIYQGEELPHPKSMLQATAEANNLAAVATAKDTYNKKMEEICGGDKPFLAP NDLQTKHLQLKEESVKLFRGVKKMGGEEFSRRYLQQLESEIDELYIQYIKHNDSKNIFHAARTP ATLFVVIFITYVIAGVTGFIGLDIIASLCNMIMGLTLITLCTWAYIRYSGEYRELGAVIDQVAA ALWDQALYKLYSAAATHRHLYHQAFPTPKSESTEQSEKKKM hide sequence

RefSeq Acc Id:	NP_056999 ⟸ NM_015915
- Peptide Label:	isoform a
- UniProtKB:	Q96FK0 (UniProtKB/Swiss-Prot), Q8WXF7 (UniProtKB/Swiss-Prot), Q69YH7 (UniProtKB/Swiss-Prot), O95890 (UniProtKB/Swiss-Prot), G5E9T1 (UniProtKB/Swiss-Prot), A8K2C0 (UniProtKB/Swiss-Prot), A6NND5 (UniProtKB/Swiss-Prot), A0A0S2Z5B0 (UniProtKB/TrEMBL), Q53F53 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAKNRRDRNSWGGFSEKTYEWSSEEEEPVKKAGPVQVLIVKDDHSFELDETALNRILLSEAVRD KEVVAVSVAGAFRKGKSFLMDFMLRYMYNQESVDWVGDYNEPLTGFSWRGGSERETTGIQIWSE IFLINKPDGKKVAVLLMDTQGTFDSQSTLRDSATVFALSTMISSIQVYNLSQNVQEDDLQHLQL FTEYGRLAMEETFLKPFQSLIFLVRDWSFPYEFSYGADGGAKFLEKRLKVSGNQHEELQNVRKH IHSCFTNISCFLLPHPGLKVATNPNFDGKLKEIDDEFIKNLKILIPWLLSPESLDIKEINGNKI TCRGLVEYFKAYIKIYQGEELPHPKSMLQATAEANNLAAVATAKDTYNKKMEEICGGDKPFLAP NDLQTKHLQLKEESVKLFRGVKKMGGEEFSRRYLQQLESEIDELYIQYIKHNDSKNIFHAARTP ATLFVVIFITYVIAGVTGFIGLDIIASLCNMIMGLTLITLCTWAYIRYSGEYRELGAVIDQVAA ALWDQGSTNEALYKLYSAAATHRHLYHQAFPTPKSESTEQSEKKKM hide sequence

RefSeq Acc Id:	NP_853629 ⟸ NM_181598
- Peptide Label:	isoform b
- UniProtKB:	A0A0S2Z5A2 (UniProtKB/TrEMBL), Q53F53 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAKNRRDRNSWGGFSEKTYEWSSEEEEPVKKAGPVQVLIVKDDHSFELDETALNRILLSEAVRD KEVVAVSVAGAFRKGKSFLMDFMLRYMYNQESVDWVGDYNEPLTGFSWRGGSERETTGIQIWSE IFLINKPDGKKVAVLLMDTQGTFDSQSTLRDSATVFALSTMISSIQVYNLSQNVQEDDLQHLQL FTEYGRLAMEETFLKPFQSLIFLVRDWSFPYEFSYGADGGAKFLEKRLKVSGNQHEELQNVRKH IHSCFTNISCFLLPHPGLKVATNPNFDGKLKEIDDEFIKNLKILIPWLLSPESLDIKEINGNKI TCRGLVEYFKAYIKIYQGEELPHPKSMLQATAEANNLAAVATAKDTYNKKMEEICGGDKPFLAP NDLQTKHLQLKEESVKLFRGVKKMGGEEFSRRYLQQLESEIDELYIQYIKHNDSKNIFHAARTP ATLFVVIFITYVIAGVTGFIGLDIIASLCNMIMGLTLITLCTWAYIRYSGEYRELGAVIDQVAA ALWDQALYKLYSAAATHRHLYHQAFPTPKSESTEQSEKKKM hide sequence

Ensembl Acc Id:

ENSP00000452506 ⟸ ENST00000555960

Ensembl Acc Id:

ENSP00000450897 ⟸ ENST00000555266

Ensembl Acc Id:

ENSP00000451100 ⟸ ENST00000556067

Ensembl Acc Id:

ENSP00000501520 ⟸ ENST00000674503

Ensembl Acc Id:

ENSP00000501522 ⟸ ENST00000674288

Ensembl Acc Id:

ENSP00000501428 ⟸ ENST00000556478

Ensembl Acc Id:

ENSP00000451015 ⟸ ENST00000557735

Ensembl Acc Id:

ENSP00000413675 ⟸ ENST00000441560

Ensembl Acc Id:

ENSP00000450989 ⟸ ENST00000553509

Ensembl Acc Id:

ENSP00000452074 ⟸ ENST00000554886

Ensembl Acc Id:

ENSP00000351155 ⟸ ENST00000358385

Ensembl Acc Id:

ENSP00000508289 ⟸ ENST00000682037

RefSeq Acc Id:	XP_047287386 ⟸ XM_047431430
- Peptide Label:	isoform X1
- UniProtKB:	Q96FK0 (UniProtKB/Swiss-Prot), Q8WXF7 (UniProtKB/Swiss-Prot), Q69YH7 (UniProtKB/Swiss-Prot), O95890 (UniProtKB/Swiss-Prot), G5E9T1 (UniProtKB/Swiss-Prot), A8K2C0 (UniProtKB/Swiss-Prot), A6NND5 (UniProtKB/Swiss-Prot), A0A0S2Z5B0 (UniProtKB/TrEMBL), Q53F53 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054232140 ⟸ XM_054376165
- Peptide Label:	isoform X1
- UniProtKB:	Q96FK0 (UniProtKB/Swiss-Prot), Q8WXF7 (UniProtKB/Swiss-Prot), Q69YH7 (UniProtKB/Swiss-Prot), O95890 (UniProtKB/Swiss-Prot), G5E9T1 (UniProtKB/Swiss-Prot), A8K2C0 (UniProtKB/Swiss-Prot), A6NND5 (UniProtKB/Swiss-Prot), A0A0S2Z5B0 (UniProtKB/TrEMBL), Q53F53 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054232141 ⟸ XM_054376166
- Peptide Label:	isoform X2
- UniProtKB:	A0A0S2Z5A2 (UniProtKB/TrEMBL), Q53F53 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054232139 ⟸ XM_054376164
- Peptide Label:	isoform X1
- UniProtKB:	Q96FK0 (UniProtKB/Swiss-Prot), Q8WXF7 (UniProtKB/Swiss-Prot), Q69YH7 (UniProtKB/Swiss-Prot), O95890 (UniProtKB/Swiss-Prot), G5E9T1 (UniProtKB/Swiss-Prot), A8K2C0 (UniProtKB/Swiss-Prot), A6NND5 (UniProtKB/Swiss-Prot), A0A0S2Z5B0 (UniProtKB/TrEMBL), Q53F53 (UniProtKB/TrEMBL)

Ensembl Acc Id:

ENSP00000519227 ⟸ ENST00000713930

Ensembl Acc Id:

ENSP00000519225 ⟸ ENST00000713928

Ensembl Acc Id:

ENSP00000519228 ⟸ ENST00000713931

Ensembl Acc Id:

ENSP00000519226 ⟸ ENST00000713929

Protein Domains

GB1/RHD3-type G

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8WXF7-F1-model_v2	AlphaFold	Q8WXF7	1-558	view protein structure

Promoters

RGD ID:

6791491

Promoter ID:

HG_KWN:19343

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, NB4

Transcripts:

ENST00000358385, NM_015915, NM_181598, OTTHUMT00000276884, UC001WYF.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	14	50,096,486 - 50,096,986 (+)	MPROMDB

RGD ID:

7227563

Promoter ID:

EPDNEW_H19526

Type:

initiation region

Name:

ATL1_2

Description:

atlastin GTPase 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H19527

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	50,533,082 - 50,533,142	EPDNEW

RGD ID:

7227561

Promoter ID:

EPDNEW_H19527

Type:

initiation region

Name:

ATL1_1

Description:

atlastin GTPase 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H19526

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	50,560,145 - 50,560,205	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:11231	AgrOrtholog
COSMIC	ATL1	COSMIC
Ensembl Genes	ENSG00000198513	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000358385	ENTREZGENE
	ENST00000358385.12	UniProtKB/Swiss-Prot
	ENST00000441560	ENTREZGENE
	ENST00000441560.6	UniProtKB/Swiss-Prot
	ENST00000553509	UniProtKB/TrEMBL
	ENST00000553509.2	UniProtKB/Swiss-Prot
	ENST00000554886.1	UniProtKB/TrEMBL
	ENST00000555266.1	UniProtKB/TrEMBL
	ENST00000555960.5	UniProtKB/TrEMBL
	ENST00000556067.1	UniProtKB/TrEMBL
	ENST00000556478	UniProtKB/TrEMBL
	ENST00000556478.3	UniProtKB/Swiss-Prot
	ENST00000557735.2	UniProtKB/TrEMBL
	ENST00000674288.1	UniProtKB/TrEMBL
	ENST00000674503.2	UniProtKB/TrEMBL
	ENST00000682037.1	UniProtKB/TrEMBL
	ENST00000713928	ENTREZGENE
	ENST00000713928.1	UniProtKB/Swiss-Prot
	ENST00000713929.1	UniProtKB/TrEMBL
	ENST00000713930.1	UniProtKB/TrEMBL
	ENST00000713931.1	UniProtKB/TrEMBL
Gene3D-CATH	3.40.50.300	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	AHSP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000198513	GTEx
HGNC ID	HGNC:11231	ENTREZGENE
Human Proteome Map	ATL1	Human Proteome Map
InterPro	G_GB1_RHD3_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Guanylate-bd_C_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Guanylate-bd_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	P-loop_NTPase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:51062	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	ATL1	ENTREZGENE
OMIM	606439	OMIM
PANTHER	GUANYLATE BINDING PROTEIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	GBP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA36061	PharmGKB
PROSITE	G_GB1_RHD3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF48340	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF52540	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A0S2Z581_HUMAN	UniProtKB/TrEMBL
	A0A0S2Z5A2	ENTREZGENE, UniProtKB/TrEMBL
	A0A0S2Z5B0	ENTREZGENE, UniProtKB/TrEMBL
	A0A0S2Z5B4_HUMAN	UniProtKB/TrEMBL
	A0A6I8PIS8_HUMAN	UniProtKB/TrEMBL
	A0A6I8PUC8_HUMAN	UniProtKB/TrEMBL
	A0A804HLC1_HUMAN	UniProtKB/TrEMBL
	A0AAQ5BH54_HUMAN	UniProtKB/TrEMBL
	A6NND5	ENTREZGENE
	A8K2C0	ENTREZGENE
	ATLA1_HUMAN	UniProtKB/Swiss-Prot
	G3V321_HUMAN	UniProtKB/TrEMBL
	G3V334_HUMAN	UniProtKB/TrEMBL
	G3V4Y8_HUMAN	UniProtKB/TrEMBL
	G3V5T4_HUMAN	UniProtKB/TrEMBL
	G5E9T1	ENTREZGENE
	H0YJ65_HUMAN	UniProtKB/TrEMBL
	H0YJA7_HUMAN	UniProtKB/TrEMBL
	O95890	ENTREZGENE
	Q53F53	ENTREZGENE, UniProtKB/TrEMBL
	Q69YH7	ENTREZGENE
	Q8WXF7	ENTREZGENE
	Q96FK0	ENTREZGENE
UniProt Secondary	A0A6I8PRS8	UniProtKB/TrEMBL
	A6NND5	UniProtKB/Swiss-Prot
	A8K2C0	UniProtKB/Swiss-Prot
	G5E9T1	UniProtKB/Swiss-Prot
	O95890	UniProtKB/Swiss-Prot
	Q69YH7	UniProtKB/Swiss-Prot
	Q96FK0	UniProtKB/Swiss-Prot

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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