ALS2 (alsin Rho guanine nucleotide exchange factor ALS2) - Rat Genome Database

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Gene: ALS2 (alsin Rho guanine nucleotide exchange factor ALS2) Homo sapiens
Analyze
Symbol: ALS2
Name: alsin Rho guanine nucleotide exchange factor ALS2
RGD ID: 1321241
HGNC Page HGNC:443
Description: Enables enzyme activator activity; protein homodimerization activity; and small GTPase binding activity. Contributes to guanyl-nucleotide exchange factor activity. Involved in several processes, including positive regulation of GTPase activity; positive regulation of protein kinase activity; and regulation of endosome size. Acts upstream of or within lysosomal transport and protein homooligomerization. Located in several cellular components, including centrosome; dendrite; and early endosome. Part of protein-containing complex. Implicated in amyotrophic lateral sclerosis and amyotrophic lateral sclerosis type 2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ALS2, alsin Rho guanine nucleotide exchange factor; ALS2CR6; alsin; ALSJ; amyotrophic lateral sclerosis 2 (juvenile); amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein; amyotrophic lateral sclerosis 2 protein; FLJ31851; IAHSP; KIAA1563; MGC87187; PLSJ
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382201,700,267 - 201,780,933 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2201,700,267 - 201,782,112 (-)EnsemblGRCh38hg38GRCh38
GRCh372202,564,990 - 202,645,656 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362202,273,522 - 202,353,983 (-)NCBINCBI36Build 36hg18NCBI36
Build 342202,390,782 - 202,471,244NCBI
Celera2196,316,786 - 196,398,012 (-)NCBICelera
Cytogenetic Map2q33.1NCBI
HuRef2194,413,010 - 194,494,230 (-)NCBIHuRef
CHM1_12202,571,473 - 202,652,371 (-)NCBICHM1_1
T2T-CHM13v2.02202,180,871 - 202,263,022 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-phenylprop-2-enal  (EXP)
4-hydroxynon-2-enal  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetaldehyde  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
aldrin  (ISO)
amitrole  (ISO)
antirheumatic drug  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
caffeine  (EXP)
calcitriol  (EXP)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
CU-O LINKAGE  (EXP)
cyclosporin A  (ISO)
cypermethrin  (ISO)
cyproconazole  (ISO)
diarsenic trioxide  (ISO)
dibenz[a,h]anthracene  (ISO)
dorsomorphin  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenthion  (ISO)
FR900359  (EXP)
gentamycin  (ISO)
lipopolysaccharide  (ISO)
lutein  (ISO)
maneb  (ISO)
mercury atom  (EXP)
mercury(0)  (EXP)
metam  (ISO)
methidathion  (ISO)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
N,N-diethyl-m-toluamide  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
Pyridostigmine bromide  (ISO)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (EXP)
sulfadimethoxine  (ISO)
tetrachloromethane  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

Human Phenotype
Abnormal central motor function  (IAGP)
Abnormal cerebellum morphology  (IAGP)
Abnormal corticospinal tract morphology  (IAGP)
Abnormal exteroceptive sensation  (IAGP)
Abnormal lower motor neuron morphology  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormal upper motor neuron morphology  (IAGP)
Abnormality of eye movement  (IAGP)
Abnormality of the bladder  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the face  (IAGP)
Achilles tendon contracture  (IAGP)
Amyotrophic lateral sclerosis  (IAGP)
Anarthria  (IAGP)
Appendicular spasticity  (IAGP)
Arm dystonia  (IAGP)
Ataxia  (IAGP)
Atypical behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial dystonia  (IAGP)
Babinski sign  (IAGP)
Brisk reflexes  (IAGP)
Bulbar signs  (IAGP)
Cachexia  (IAGP)
Cerebral cortical atrophy  (IAGP)
Childhood onset  (IAGP)
Chorea  (IAGP)
Clonus  (IAGP)
CNS hypomyelination  (IAGP)
Cognitive impairment  (IAGP)
Decreased compound muscle action potential amplitude  (IAGP)
Delayed ability to walk  (IAGP)
Delayed somatosensory central conduction time  (IAGP)
Distal amyotrophy  (IAGP)
Distal lower limb amyotrophy  (IAGP)
Distal muscle weakness  (IAGP)
Drooling  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
EMG: chronic denervation signs  (IAGP)
Gait disturbance  (IAGP)
Gait imbalance  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized dystonia  (IAGP)
Global developmental delay  (IAGP)
Hand muscle atrophy  (IAGP)
Head titubation  (IAGP)
Hyperreflexia  (IAGP)
Hypertonia  (IAGP)
Impaired mastication  (IAGP)
Inability to walk  (IAGP)
Infantile onset  (IAGP)
Limb joint contracture  (IAGP)
Loss of ambulation  (IAGP)
Loss of speech  (IAGP)
Lower limb spasticity  (IAGP)
Lower-limb joint contracture  (IAGP)
Microcephaly  (IAGP)
Motor delay  (IAGP)
Muscle fiber atrophy  (IAGP)
Muscle weakness  (IAGP)
Neck flexor weakness  (IAGP)
Nystagmus  (IAGP)
Opisthotonus  (IAGP)
Oromandibular dystonia  (IAGP)
Pallor  (IAGP)
Parkinsonism  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Pes cavus  (IAGP)
Progressive  (IAGP)
Proximal muscle weakness  (IAGP)
Pseudobulbar affect  (IAGP)
Pseudobulbar paralysis  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Retrocollis  (IAGP)
Saccadic smooth pursuit  (IAGP)
Scoliosis  (IAGP)
Sensory neuropathy  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Slow saccadic eye movements  (IAGP)
Slowly progressive  (IAGP)
Spastic diplegia  (IAGP)
Spastic dysarthria  (IAGP)
Spastic gait  (IAGP)
Spastic paraplegia  (IAGP)
Spastic tetraparesis  (IAGP)
Spastic tetraplegia  (IAGP)
Spasticity  (IAGP)
Spasticity of facial muscles  (IAGP)
Spasticity of pharyngeal muscles  (IAGP)
Supranuclear gaze palsy  (IAGP)
Tetraplegia  (IAGP)
Tip-toe gait  (IAGP)
Tongue muscle weakness  (IAGP)
Tongue spasticity  (IAGP)
Upper limb spasticity  (IAGP)
Upper-limb joint contracture  (IAGP)
Urinary incontinence  (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. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Yang Y, etal., Nat Genet. 2001 Oct;29(2):160-5.
Additional References at PubMed
PMID:8889548   PMID:9889004   PMID:9933298   PMID:10997877   PMID:11586298   PMID:11687798   PMID:12138710   PMID:12145748   PMID:12168954   PMID:12477932   PMID:12601111   PMID:12837691  
PMID:12866199   PMID:12919135   PMID:14668431   PMID:14676054   PMID:14702039   PMID:14970233   PMID:15247254   PMID:15324660   PMID:15342556   PMID:15371724   PMID:15388334   PMID:15489334  
PMID:15579468   PMID:16049005   PMID:16085057   PMID:16249884   PMID:16670179   PMID:17239822   PMID:17353931   PMID:17698795   PMID:17955197   PMID:18523452   PMID:18810511   PMID:19023603  
PMID:19122027   PMID:20301421   PMID:20301623   PMID:20379614   PMID:21300063   PMID:21873635   PMID:21907703   PMID:23282280   PMID:23383273   PMID:24315819   PMID:24562058   PMID:24704789  
PMID:25433428   PMID:25474699   PMID:26186194   PMID:26751646   PMID:26871637   PMID:27601211   PMID:28502191   PMID:28514442   PMID:29469808   PMID:30128655   PMID:30224357   PMID:31959474  
PMID:32031713   PMID:32203420   PMID:32814053   PMID:33155358   PMID:33226137   PMID:33409823   PMID:33961781   PMID:34243065   PMID:34709727   PMID:35271311   PMID:36215168   PMID:36931259  
PMID:38847490   PMID:39023312  


Genomics

Comparative Map Data
ALS2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382201,700,267 - 201,780,933 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2201,700,267 - 201,782,112 (-)EnsemblGRCh38hg38GRCh38
GRCh372202,564,990 - 202,645,656 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362202,273,522 - 202,353,983 (-)NCBINCBI36Build 36hg18NCBI36
Build 342202,390,782 - 202,471,244NCBI
Celera2196,316,786 - 196,398,012 (-)NCBICelera
Cytogenetic Map2q33.1NCBI
HuRef2194,413,010 - 194,494,230 (-)NCBIHuRef
CHM1_12202,571,473 - 202,652,371 (-)NCBICHM1_1
T2T-CHM13v2.02202,180,871 - 202,263,022 (-)NCBIT2T-CHM13v2.0
Als2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39159,201,915 - 59,276,390 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl159,202,085 - 59,276,390 (-)EnsemblGRCm39 Ensembl
GRCm38159,162,756 - 59,237,231 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl159,162,926 - 59,237,231 (-)EnsemblGRCm38mm10GRCm38
MGSCv37159,219,600 - 59,294,075 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36159,107,478 - 59,181,765 (-)NCBIMGSCv36mm8
Celera159,678,988 - 59,753,541 (-)NCBICelera
Cytogenetic Map1C1.3NCBI
cM Map129.33NCBI
Als2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8968,107,310 - 68,180,192 (-)NCBIGRCr8
mRatBN7.2960,613,182 - 60,686,394 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl960,613,167 - 60,670,737 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx969,109,629 - 69,180,766 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0974,225,596 - 74,296,738 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0972,543,871 - 72,615,010 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0965,961,361 - 66,034,396 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl965,961,346 - 66,033,871 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0965,768,594 - 65,841,938 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4957,741,679 - 57,812,652 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1957,887,443 - 57,959,517 (-)NCBI
Celera958,052,438 - 58,123,222 (-)NCBICelera
Cytogenetic Map9q31NCBI
Als2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540322,449 - 104,948 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540322,449 - 104,577 (+)NCBIChiLan1.0ChiLan1.0
ALS2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213104,323,577 - 104,405,299 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B104,338,577 - 104,420,295 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B88,954,167 - 89,034,764 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B207,108,952 - 207,189,681 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B207,108,952 - 207,189,623 (-)Ensemblpanpan1.1panPan2
ALS2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13710,755,595 - 10,825,073 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3710,756,515 - 10,812,292 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3711,639,022 - 11,709,699 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03710,660,479 - 10,730,278 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3710,660,802 - 10,761,621 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13710,641,412 - 10,711,126 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03710,620,145 - 10,691,546 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03710,613,682 - 10,683,474 (-)NCBIUU_Cfam_GSD_1.0
Als2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303158,970,697 - 159,045,526 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936726939,341 - 1,015,799 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936726940,696 - 1,015,771 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ALS2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15105,328,719 - 105,401,093 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115105,328,717 - 105,401,152 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
ALS2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11087,389,130 - 87,473,134 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666040111,943,033 - 112,023,399 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Als2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462489974,080 - 170,565 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ALS2
930 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020919.4(ALS2):c.2491_2499del (p.Glu831_Leu833del) deletion ALS2-related disorder [RCV004541601]|Infantile-onset ascending hereditary spastic paralysis [RCV000547809]|not specified [RCV000518496] Chr2:201733357..201733365 [GRCh38]
Chr2:202598080..202598088 [GRCh37]
Chr2:2q33.1
benign|likely benign|uncertain significance
NM_020919.4(ALS2):c.4964A>C (p.Lys1655Thr) single nucleotide variant Inborn genetic diseases [RCV002525016]|Infantile-onset ascending hereditary spastic paralysis [RCV002527453]|not specified [RCV000516809] Chr2:201701861 [GRCh38]
Chr2:202566584 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.1969A>G (p.Lys657Glu) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000549260] Chr2:201746595 [GRCh38]
Chr2:202611318 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.2:c.[1825_1826insCAGTG;3529G>T] insertion Infantile-onset ascending hereditary spastic paralysis [RCV000034965]   pathogenic
NM_020919.2:c.[3565delG;62848G>C] deletion Amyotrophic lateral sclerosis type 2 [RCV000034989]   pathogenic
NM_020919.4(ALS2):c.2581-5T>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000526173] Chr2:201729188 [GRCh38]
Chr2:202593911 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.468G>A (p.Ala156=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002060230]|not specified [RCV000517340] Chr2:201761526 [GRCh38]
Chr2:202626249 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1033G>A (p.Val345Ile) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002525221]|not provided [RCV000521782] Chr2:201760961 [GRCh38]
Chr2:202625684 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.138del (p.Ala47fs) deletion Amyotrophic lateral sclerosis type 2, juvenile [RCV000004655] Chr2:201767266 [GRCh38]
Chr2:202631989 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.1867_1868del (p.Leu623fs) deletion Infantile-onset ascending hereditary spastic paralysis [RCV000995486]|Juvenile primary lateral sclerosis [RCV000004656] Chr2:201746696..201746697 [GRCh38]
Chr2:202611419..202611420 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.1427_1428del (p.Glu476fs) microsatellite Juvenile primary lateral sclerosis [RCV000004657]|not provided [RCV004799732] Chr2:201757445..201757446 [GRCh38]
Chr2:202622168..202622169 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.3619del (p.Lys1206_Met1207insTer) deletion Infantile-onset ascending hereditary spastic paralysis [RCV000004658] Chr2:201723335 [GRCh38]
Chr2:202588058 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.3(ALS2):c.1472_1481delTTTCCCCCAG single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000004659] Chr2:201754672 [GRCh38]
Chr2:202619395 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.2537_2538del (p.Asn846fs) deletion Infantile-onset ascending hereditary spastic paralysis [RCV000004660] Chr2:201733318..201733319 [GRCh38]
Chr2:202598041..202598042 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.1007_1008del (p.Ile336fs) deletion Infantile-onset ascending hereditary spastic paralysis [RCV000004661] Chr2:201760986..201760987 [GRCh38]
Chr2:202625709..202625710 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.4721del (p.Val1574fs) deletion Infantile-onset ascending hereditary spastic paralysis [RCV000004662] Chr2:201704571 [GRCh38]
Chr2:202569294 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.2992C>T (p.Arg998Ter) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000004663] Chr2:201726854 [GRCh38]
Chr2:202591577 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.553del (p.Thr185fs) deletion Amyotrophic lateral sclerosis type 2, juvenile [RCV000004664]|Juvenile primary lateral sclerosis [RCV000995489] Chr2:201761441 [GRCh38]
Chr2:202626164 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000004665]|not provided [RCV001090658] Chr2:201761524 [GRCh38]
Chr2:202626247 [GRCh37]
Chr2:2q33.1
pathogenic|likely pathogenic
NM_020919.4(ALS2):c.2980-2A>G single nucleotide variant Juvenile primary lateral sclerosis [RCV000004666] Chr2:201726868 [GRCh38]
Chr2:202591591 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.2143C>T (p.Gln715Ter) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000004667] Chr2:201744285 [GRCh38]
Chr2:202609008 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.1999-2A>T single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000034887] Chr2:201744431 [GRCh38]
Chr2:202609154 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.1619G>A (p.Gly540Glu) single nucleotide variant Juvenile primary lateral sclerosis [RCV000034964] Chr2:201754524 [GRCh38]
Chr2:202619247 [GRCh37]
Chr2:2q33.1
pathogenic
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|See cases [RCV000052603] Chr2:198095810..211803453 [GRCh38]
Chr2:198960534..212668178 [GRCh37]
Chr2:198668779..212376423 [NCBI36]
Chr2:2q33.1-34
pathogenic
GRCh38/hg38 2q33.1-33.2(chr2:200520961-203566211)x1 copy number loss See cases [RCV000052605] Chr2:200520961..203566211 [GRCh38]
Chr2:201385684..204430934 [GRCh37]
Chr2:201093929..204139179 [NCBI36]
Chr2:2q33.1-33.2
pathogenic
GRCh38/hg38 2q33.1(chr2:201537291-201896769)x1 copy number loss See cases [RCV000052606] Chr2:201537291..201896769 [GRCh38]
Chr2:202402014..202761492 [GRCh37]
Chr2:202110259..202469737 [NCBI36]
Chr2:2q33.1
pathogenic
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 copy number loss See cases [RCV000052558] Chr2:176304445..202039790 [GRCh38]
Chr2:177169173..202904513 [GRCh37]
Chr2:176877419..202612758 [NCBI36]
Chr2:2q31.1-33.1
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
NM_020919.3(ALS2):c.3907C>T (p.Gln1303Ter) single nucleotide variant Malignant melanoma [RCV000065360] Chr2:201715769 [GRCh38]
Chr2:202580492 [GRCh37]
Chr2:202288737 [NCBI36]
Chr2:2q33.1
not provided
NM_020919.3(ALS2):c.3043C>T (p.Pro1015Ser) single nucleotide variant Malignant melanoma [RCV000065361] Chr2:201726803 [GRCh38]
Chr2:202591526 [GRCh37]
Chr2:202299771 [NCBI36]
Chr2:2q33.1
not provided
NM_020919.3(ALS2):c.141C>T (p.Ala47=) single nucleotide variant Malignant melanoma [RCV000065362] Chr2:201767263 [GRCh38]
Chr2:202631986 [GRCh37]
Chr2:202340231 [NCBI36]
Chr2:2q33.1
not provided
NM_020919.3(ALS2):c.3802C>T (p.Leu1268=) single nucleotide variant Malignant melanoma [RCV000060459] Chr2:201718111 [GRCh38]
Chr2:202582834 [GRCh37]
Chr2:202291079 [NCBI36]
Chr2:2q33.1
not provided
NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter) single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV001095478]|Infantile-onset ascending hereditary spastic paralysis [RCV000087053]|not provided [RCV000171328] Chr2:201728592 [GRCh38]
Chr2:202593315 [GRCh37]
Chr2:2q33.1
pathogenic|likely pathogenic|no classifications from unflagged records
NM_020919.4(ALS2):c.1885G>A (p.Glu629Lys) single nucleotide variant Inborn genetic diseases [RCV004036261]|Infantile-onset ascending hereditary spastic paralysis [RCV001303045] Chr2:201746679 [GRCh38]
Chr2:202611402 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4897C>T (p.Gln1633Ter) single nucleotide variant Inborn genetic diseases [RCV000190777]|Infantile-onset ascending hereditary spastic paralysis [RCV003502523]|not provided [RCV004719741] Chr2:201704160 [GRCh38]
Chr2:202568883 [GRCh37]
Chr2:2q33.1
pathogenic|likely pathogenic|uncertain significance
NM_020919.4(ALS2):c.2581-24del deletion not provided [RCV001572163] Chr2:201729207 [GRCh38]
Chr2:202593930 [GRCh37]
Chr2:2q33.1
likely benign
GRCh38/hg38 2q33.1(chr2:201674160-202308811)x3 copy number gain See cases [RCV000134147] Chr2:201674160..202308811 [GRCh38]
Chr2:202538883..203173534 [GRCh37]
Chr2:202247128..202881779 [NCBI36]
Chr2:2q33.1
uncertain significance
GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1 copy number loss See cases [RCV000135341] Chr2:195660594..203969488 [GRCh38]
Chr2:196525318..204834211 [GRCh37]
Chr2:196233563..204542456 [NCBI36]
Chr2:2q32.3-33.2
pathogenic
GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1 copy number loss See cases [RCV000135665] Chr2:197400023..202089348 [GRCh38]
Chr2:198264747..202954071 [GRCh37]
Chr2:197972992..202662316 [NCBI36]
Chr2:2q33.1
likely pathogenic
GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1 copy number loss See cases [RCV000136596] Chr2:198767347..202353840 [GRCh38]
Chr2:199632071..203218563 [GRCh37]
Chr2:199340316..202926808 [NCBI36]
Chr2:2q33.1
pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2
pathogenic
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 copy number loss See cases [RCV000141254] Chr2:192938826..215705052 [GRCh38]
Chr2:193803552..216569775 [GRCh37]
Chr2:193511797..216278020 [NCBI36]
Chr2:2q32.3-35
pathogenic
GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1 copy number loss See cases [RCV000141076] Chr2:199946494..209985195 [GRCh38]
Chr2:200811217..210849919 [GRCh37]
Chr2:200519462..210558164 [NCBI36]
Chr2:2q33.1-34
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1 copy number loss See cases [RCV000143301] Chr2:199937273..210031924 [GRCh38]
Chr2:200801996..210896648 [GRCh37]
Chr2:200510241..210604893 [NCBI36]
Chr2:2q33.1-34
pathogenic
NM_020919.4(ALS2):c.2002G>T (p.Gly668Ter) single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV000162071] Chr2:201744426 [GRCh38]
Chr2:202609149 [GRCh37]
Chr2:2q33.1
pathogenic|not provided
NM_020919.4(ALS2):c.4573dup (p.Val1525fs) duplication Amyotrophic lateral sclerosis type 2, juvenile [RCV000162072]|Infantile-onset ascending hereditary spastic paralysis [RCV001089474] Chr2:201706852..201706853 [GRCh38]
Chr2:202571575..202571576 [GRCh37]
Chr2:2q33.1
pathogenic|likely pathogenic|not provided
NM_020919.3(ALS2):c.-329G>A single nucleotide variant ALS2-related disorder [RCV000259954]|Amyotrophic Lateral Sclerosis, Recessive [RCV000317537] Chr2:201781145 [GRCh38]
Chr2:202645868 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1805G>A (p.Arg602His) single nucleotide variant ALS2-related disorder [RCV000336519]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000297939] Chr2:201749722 [GRCh38]
Chr2:202614445 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3625-16_3625-15del deletion ALS2-related disorder [RCV000407533]|Amyotrophic Lateral Sclerosis, Recessive [RCV000301154]|Infantile-onset ascending hereditary spastic paralysis [RCV002057637]|not provided [RCV001549975] Chr2:201723135..201723136 [GRCh38]
Chr2:202587858..202587859 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu) single nucleotide variant ALS2-related disorder [RCV000261194]|Amyotrophic lateral sclerosis [RCV001260560]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000355910]|Hereditary spastic paraplegia [RCV000515815]|Infantile-onset ascending hereditary spastic paralysis [RCV000863616]|not provided [RCV001590976] Chr2:201726526 [GRCh38]
Chr2:202591249 [GRCh37]
Chr2:2q33.1
pathogenic|benign|uncertain significance
NM_020919.4(ALS2):c.997G>T (p.Ala333Ser) single nucleotide variant ALS2-related disorder [RCV000277763]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000388460]|Inborn genetic diseases [RCV004639223] Chr2:201760997 [GRCh38]
Chr2:202625720 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.20+9A>G single nucleotide variant ALS2-related disorder [RCV000279639]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000341635] Chr2:201768857 [GRCh38]
Chr2:202633580 [GRCh37]
Chr2:2q33.1
pathogenic|uncertain significance
NM_020919.4(ALS2):c.3517G>A (p.Glu1173Lys) single nucleotide variant ALS2-related disorder [RCV001143535]|Hereditary spastic paraplegia [RCV001847937]|Infantile-onset ascending hereditary spastic paralysis [RCV000206059]|not provided [RCV001594874]|not specified [RCV000516738] Chr2:201723437 [GRCh38]
Chr2:202588160 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.4004+6T>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000524821] Chr2:201715666 [GRCh38]
Chr2:202580389 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=) single nucleotide variant ALS2-related disorder [RCV000388670]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000294407]|Hereditary spastic paraplegia [RCV001848004]|Infantile-onset ascending hereditary spastic paralysis [RCV001082502]|not provided [RCV000756988] Chr2:201741784 [GRCh38]
Chr2:202606507 [GRCh37]
Chr2:2q33.1
benign|likely benign|uncertain significance
NM_020919.4(ALS2):c.475G>A (p.Glu159Lys) single nucleotide variant ALS2-related disorder [RCV001142050]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000330397]|Amyotrophic lateral sclerosis type 2, juvenile [RCV002494657]|Hereditary spastic paraplegia [RCV001848005]|Infantile-onset ascending hereditary spastic paralysis [RCV000227758]|not provided [RCV001711641]|not specified [RCV001287973] Chr2:201761519 [GRCh38]
Chr2:202626242 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg) single nucleotide variant ALS2-related disorder [RCV001137184]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000764355]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001139424]|Hereditary spastic paraplegia [RCV001848003]|Infantile-onset ascending hereditary spastic paralysis [RCV001082210]|not provided [RCV000512695]|not specified [RCV000516346] Chr2:201757758 [GRCh38]
Chr2:202622481 [GRCh37]
Chr2:2q33.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020919.4(ALS2):c.4764G>A (p.Ala1588=) single nucleotide variant ALS2-related disorder [RCV001141604]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001141605]|Hereditary spastic paraplegia [RCV001848006]|Infantile-onset ascending hereditary spastic paralysis [RCV000230667]|not provided [RCV001596997]|not specified [RCV000518222] Chr2:201704528 [GRCh38]
Chr2:202569251 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.1425_1428del (p.Gly477fs) deletion Infantile-onset ascending hereditary spastic paralysis [RCV000232793] Chr2:201757445..201757448 [GRCh38]
Chr2:202622168..202622171 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.1623C>T (p.His541=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000226594] Chr2:201754520 [GRCh38]
Chr2:202619243 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4498G>A (p.Glu1500Lys) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000232857] Chr2:201706928 [GRCh38]
Chr2:202571651 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met) single nucleotide variant ALS2-related disorder [RCV000377762]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000323025]|Hereditary spastic paraplegia [RCV001848051]|Infantile-onset ascending hereditary spastic paralysis [RCV001084529]|not provided [RCV000539511]|not specified [RCV000277866] Chr2:201710994 [GRCh38]
Chr2:202575717 [GRCh37]
Chr2:2q33.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020919.4(ALS2):c.3876G>A (p.Lys1292=) single nucleotide variant ALS2-related disorder [RCV000313623]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000368212]|Infantile-onset ascending hereditary spastic paralysis [RCV000863516] Chr2:201715800 [GRCh38]
Chr2:202580523 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) single nucleotide variant ALS2-related disorder [RCV000382737]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000328276]|Hereditary spastic paraplegia [RCV001848678]|Infantile-onset ascending hereditary spastic paralysis [RCV000813075]|Peripheral axonal neuropathy [RCV000414980]|Tip-toe gait [RCV001358657]|not provided [RCV001580056]|not specified [RCV001289224] Chr2:201733377 [GRCh38]
Chr2:202598100 [GRCh37]
Chr2:2q33.1
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_020919.4(ALS2):c.1433G>C (p.Gly478Ala) single nucleotide variant Inborn genetic diseases [RCV004023998]|Infantile-onset ascending hereditary spastic paralysis [RCV000545112] Chr2:201757440 [GRCh38]
Chr2:202622163 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2909G>T (p.Gly970Val) single nucleotide variant ALS2-related disorder [RCV000316456]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000361538]|Hereditary spastic paraplegia [RCV001848676]|Infantile-onset ascending hereditary spastic paralysis [RCV000703570] Chr2:201727708 [GRCh38]
Chr2:202592431 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.1251A>G (p.Ser417=) single nucleotide variant ALS2-related disorder [RCV000309519]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000366368] Chr2:201757622 [GRCh38]
Chr2:202622345 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.20+7T>C single nucleotide variant ALS2-related disorder [RCV000399186]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000302011]|Infantile-onset ascending hereditary spastic paralysis [RCV001509594]|Juvenile primary lateral sclerosis [RCV001548882]|not provided [RCV001610719]|not specified [RCV000243518] Chr2:201768859 [GRCh38]
Chr2:202633582 [GRCh37]
Chr2:2q33.1
benign
NM_020919.3(ALS2):c.-128C>T single nucleotide variant ALS2-related disorder [RCV000370614]|Amyotrophic Lateral Sclerosis, Recessive [RCV000273644] Chr2:201780944 [GRCh38]
Chr2:202645667 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.*15T>G single nucleotide variant ALS2-related disorder [RCV000390506]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000285997] Chr2:201701836 [GRCh38]
Chr2:202566559 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.*105A>C single nucleotide variant ALS2-related disorder [RCV000335270]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000280255]|not provided [RCV001582977] Chr2:201701746 [GRCh38]
Chr2:202566469 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.-95G>C single nucleotide variant ALS2-related disorder [RCV000270281]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000313725]|not provided [RCV004708472] Chr2:201780911 [GRCh38]
Chr2:202645634 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.1102G>A (p.Val368Met) single nucleotide variant ALS2-related disorder [RCV000269440]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000326864]|Infantile-onset ascending hereditary spastic paralysis [RCV001509593]|Juvenile primary lateral sclerosis [RCV001548881]|not provided [RCV000710519]|not specified [RCV000243956] Chr2:201760892 [GRCh38]
Chr2:202625615 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.2842-16G>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001515527]|not provided [RCV001675754]|not specified [RCV000253757] Chr2:201727791 [GRCh38]
Chr2:202592514 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.1114-27A>G single nucleotide variant not provided [RCV001618462]|not specified [RCV000246510] Chr2:201757786 [GRCh38]
Chr2:202622509 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.1816-8C>T single nucleotide variant ALS2-related disorder [RCV000400905]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000349374]|Hereditary spastic paraplegia [RCV001848038]|Infantile-onset ascending hereditary spastic paralysis [RCV001087893]|not provided [RCV000710520]|not specified [RCV000251509] Chr2:201746756 [GRCh38]
Chr2:202611479 [GRCh37]
Chr2:2q33.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020919.4(ALS2):c.4004+25C>T single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV001549267]|Infantile-onset ascending hereditary spastic paralysis [RCV001549269]|Juvenile primary lateral sclerosis [RCV001549268]|not provided [RCV001651241]|not specified [RCV000254072] Chr2:201715647 [GRCh38]
Chr2:202580370 [GRCh37]
Chr2:2q33.1
benign
GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3 copy number gain See cases [RCV000240410] Chr2:200776457..203070949 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2466G>A (p.Val822=) single nucleotide variant ALS2-related disorder [RCV000352784]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000288406]|Infantile-onset ascending hereditary spastic paralysis [RCV001509592]|Juvenile primary lateral sclerosis [RCV001548877]|not provided [RCV000710522]|not specified [RCV000249292] Chr2:201733390 [GRCh38]
Chr2:202598113 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.2796C>T (p.Ser932=) single nucleotide variant ALS2-related disorder [RCV000267099]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000322182]|Infantile-onset ascending hereditary spastic paralysis [RCV001510257]|not provided [RCV001636812]|not specified [RCV000254279] Chr2:201728557 [GRCh38]
Chr2:202593280 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.4580+7G>A single nucleotide variant ALS2-related disorder [RCV000391745]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000306834]|Infantile-onset ascending hereditary spastic paralysis [RCV001509590]|Juvenile primary lateral sclerosis [RCV001549262]|not provided [RCV001660346]|not specified [RCV000242163] Chr2:201706839 [GRCh38]
Chr2:202571562 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.280A>G (p.Ile94Val) single nucleotide variant ALS2-related disorder [RCV000387223]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000281155]|Hereditary spastic paraplegia [RCV001848039]|Infantile-onset ascending hereditary spastic paralysis [RCV000459871]|not provided [RCV001706359]|not specified [RCV000244654] Chr2:201761714 [GRCh38]
Chr2:202626437 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.4123-64G>A single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV001549263]|Infantile-onset ascending hereditary spastic paralysis [RCV001549265]|Juvenile primary lateral sclerosis [RCV001549264]|not provided [RCV001673194] Chr2:201710102 [GRCh38]
Chr2:202574825 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.4581-48T>C single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV001549259]|Infantile-onset ascending hereditary spastic paralysis [RCV001549261]|Juvenile primary lateral sclerosis [RCV001549260]|not provided [RCV001711575]|not specified [RCV000247168] Chr2:201705509 [GRCh38]
Chr2:202570232 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.2841+48del deletion not provided [RCV001660345]|not specified [RCV000249600] Chr2:201728464 [GRCh38]
Chr2:202593187 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.4004+34A>G single nucleotide variant not specified [RCV000245264] Chr2:201715638 [GRCh38]
Chr2:202580361 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.*942A>G single nucleotide variant ALS2-related disorder [RCV000265872]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000302547] Chr2:201700909 [GRCh38]
Chr2:202565632 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.4015C>T (p.Leu1339=) single nucleotide variant ALS2-related disorder [RCV000347093]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000283291]|Infantile-onset ascending hereditary spastic paralysis [RCV001509591]|Juvenile primary lateral sclerosis [RCV001549266]|not provided [RCV000710524]|not specified [RCV000250217] Chr2:201711098 [GRCh38]
Chr2:202575821 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.*912A>G single nucleotide variant ALS2-related disorder [RCV000366533]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000271890] Chr2:201700939 [GRCh38]
Chr2:202565662 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4416G>A (p.Thr1472=) single nucleotide variant ALS2-related disorder [RCV000276464]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000370877]|Infantile-onset ascending hereditary spastic paralysis [RCV000862055]|not provided [RCV001571366]|not specified [RCV001289226] Chr2:201707010 [GRCh38]
Chr2:202571733 [GRCh37]
Chr2:2q33.1
benign|likely benign|uncertain significance
NM_020919.4(ALS2):c.3248+50G>A single nucleotide variant not provided [RCV004710667]|not specified [RCV000245744] Chr2:201726434 [GRCh38]
Chr2:202591157 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3885G>A (p.Ala1295=) single nucleotide variant ALS2-related disorder [RCV000398431]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000344027]|Hereditary spastic paraplegia [RCV001848040]|Infantile-onset ascending hereditary spastic paralysis [RCV000465089]|not provided [RCV001636813]|not specified [RCV000250738] Chr2:201715791 [GRCh38]
Chr2:202580514 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.*447G>A single nucleotide variant ALS2-related disorder [RCV000277935]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000333101] Chr2:201701404 [GRCh38]
Chr2:202566127 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.*1202C>T single nucleotide variant ALS2-related disorder [RCV000400706]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000300059] Chr2:201700649 [GRCh38]
Chr2:202565372 [GRCh37]
Chr2:2q33.1
benign|uncertain significance
NM_020919.4(ALS2):c.*1100A>G single nucleotide variant ALS2-related disorder [RCV000336245]|Amyotrophic Lateral Sclerosis, Recessive [RCV000408039] Chr2:201700751 [GRCh38]
Chr2:202565474 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.*163A>G single nucleotide variant ALS2-related disorder [RCV000337836]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000373830]|not provided [RCV001590975] Chr2:201701688 [GRCh38]
Chr2:202566411 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.3930C>A (p.Gly1310=) single nucleotide variant ALS2-related disorder [RCV000402291]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000289092] Chr2:201715746 [GRCh38]
Chr2:202580469 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.*1004G>A single nucleotide variant ALS2-related disorder [RCV000305695]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000360466]|not provided [RCV004708470] Chr2:201700847 [GRCh38]
Chr2:202565570 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.4958G>A (p.Arg1653His) single nucleotide variant ALS2-related disorder [RCV000392611]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000340981]|Infantile-onset ascending hereditary spastic paralysis [RCV002521362] Chr2:201701867 [GRCh38]
Chr2:202566590 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2712G>A (p.Thr904=) single nucleotide variant ALS2-related disorder [RCV000291959]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000376765]|Hereditary spastic paraplegia [RCV001848677]|Infantile-onset ascending hereditary spastic paralysis [RCV000685367]|not provided [RCV001579967] Chr2:201729052 [GRCh38]
Chr2:202593775 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1677A>G (p.Lys559=) single nucleotide variant ALS2-related disorder [RCV000407711]|Amyotrophic Lateral Sclerosis, Recessive [RCV000306041]|Hereditary spastic paraplegia [RCV001848679]|Infantile-onset ascending hereditary spastic paralysis [RCV000546027]|not provided [RCV001580129] Chr2:201753206 [GRCh38]
Chr2:202617929 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.*379T>A single nucleotide variant ALS2-related disorder [RCV000387560]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000292159] Chr2:201701472 [GRCh38]
Chr2:202566195 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.*1538C>G single nucleotide variant ALS2-related disorder [RCV000389144]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000343965] Chr2:201700313 [GRCh38]
Chr2:202565036 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.*893C>T single nucleotide variant ALS2-related disorder [RCV000381762]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000326977]|not provided [RCV004708471] Chr2:201700958 [GRCh38]
Chr2:202565681 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.-93A>G single nucleotide variant ALS2-related disorder [RCV000310299]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000362634] Chr2:201780909 [GRCh38]
Chr2:202645632 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4581-7A>G single nucleotide variant ALS2-related disorder [RCV000365254]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000310484]|Infantile-onset ascending hereditary spastic paralysis [RCV000861830]|not provided [RCV001571615]|not specified [RCV001660693] Chr2:201705468 [GRCh38]
Chr2:202570191 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.3(ALS2):c.-328A>G single nucleotide variant ALS2-related disorder [RCV000374101]|Amyotrophic Lateral Sclerosis, Recessive [RCV000331178] Chr2:201781144 [GRCh38]
Chr2:202645867 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4404-14C>T single nucleotide variant ALS2-related disorder [RCV000331486]|Amyotrophic Lateral Sclerosis, Recessive [RCV000356769] Chr2:201707036 [GRCh38]
Chr2:202571759 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4366G>C (p.Gly1456Arg) single nucleotide variant ALS2-related disorder [RCV000261969]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000317080] Chr2:201707906 [GRCh38]
Chr2:202572629 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1283C>A (p.Thr428Asn) single nucleotide variant ALS2-related disorder [RCV000358508]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000266152]|not provided [RCV003311764] Chr2:201757590 [GRCh38]
Chr2:202622313 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2675C>T (p.Thr892Ile) single nucleotide variant not provided [RCV000489470] Chr2:201729089 [GRCh38]
Chr2:202593812 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3597_3599del (p.Glu1199_Gly1200delinsAsp) deletion not provided [RCV000487866] Chr2:201723355..201723357 [GRCh38]
Chr2:202588078..202588080 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1304A>T (p.Gln435Leu) single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV000490310] Chr2:201757569 [GRCh38]
Chr2:202622292 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_020919.4(ALS2):c.3158G>A (p.Trp1053Ter) single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV002512105]|Infantile-onset ascending hereditary spastic paralysis [RCV003611516]|Tip-toe gait [RCV003318583]|not provided [RCV000488207] Chr2:201726688 [GRCh38]
Chr2:202591411 [GRCh37]
Chr2:2q33.1
pathogenic|likely pathogenic
NM_020919.4(ALS2):c.2108G>C (p.Arg703Thr) single nucleotide variant Inborn genetic diseases [RCV002525015]|Infantile-onset ascending hereditary spastic paralysis [RCV001857890]|not provided [RCV004800440]|not specified [RCV000517270] Chr2:201744320 [GRCh38]
Chr2:202609043 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.*1249G>A single nucleotide variant ALS2-related disorder [RCV000294824]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000349057] Chr2:201700602 [GRCh38]
Chr2:202565325 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1114-7A>G single nucleotide variant not specified [RCV000518093] Chr2:201757766 [GRCh38]
Chr2:202622489 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.248T>G (p.Ile83Ser) single nucleotide variant ALS2-related disorder [RCV000338160]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000371841] Chr2:201761746 [GRCh38]
Chr2:202626469 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4123-4T>C single nucleotide variant ALS2-related disorder [RCV000371766]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000286752] Chr2:201710042 [GRCh38]
Chr2:202574765 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.-31T>A single nucleotide variant ALS2-related disorder [RCV000400039]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000340593] Chr2:201768916 [GRCh38]
Chr2:202633639 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1044C>T (p.Tyr348=) single nucleotide variant ALS2-related disorder [RCV001139426]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001139425]|Infantile-onset ascending hereditary spastic paralysis [RCV002556972] Chr2:201760950 [GRCh38]
Chr2:202625673 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.2845_2854dup (p.His952fs) duplication not provided [RCV000598800] Chr2:201727762..201727763 [GRCh38]
Chr2:202592485..202592486 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.2171-4A>G single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000527503] Chr2:201741858 [GRCh38]
Chr2:202606581 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1037A>G (p.Asn346Ser) single nucleotide variant ALS2-related disorder [RCV001139427]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001140200]|Infantile-onset ascending hereditary spastic paralysis [RCV000640990] Chr2:201760957 [GRCh38]
Chr2:202625680 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.576G>C (p.Pro192=) single nucleotide variant ALS2-related disorder [RCV004544854]|Infantile-onset ascending hereditary spastic paralysis [RCV000640996]|not provided [RCV001311978] Chr2:201761418 [GRCh38]
Chr2:202626141 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.331G>A (p.Val111Ile) single nucleotide variant ALS2-related disorder [RCV001137294]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001137295]|Hereditary spastic paraplegia [RCV001849016]|Infantile-onset ascending hereditary spastic paralysis [RCV001089250]|not specified [RCV001644727] Chr2:201761663 [GRCh38]
Chr2:202626386 [GRCh37]
Chr2:2q33.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020919.4(ALS2):c.535C>T (p.Gln179Ter) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001868005]|not provided [RCV000598924] Chr2:201761459 [GRCh38]
Chr2:202626182 [GRCh37]
Chr2:2q33.1
pathogenic|likely pathogenic
NM_020919.4(ALS2):c.1171G>A (p.Ala391Thr) single nucleotide variant ALS2-related disorder [RCV001137183]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001137182]|Infantile-onset ascending hereditary spastic paralysis [RCV000530345]|not provided [RCV004791548] Chr2:201757702 [GRCh38]
Chr2:202622425 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1921C>T (p.Gln641Ter) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000640989] Chr2:201746643 [GRCh38]
Chr2:202611366 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.2500A>C (p.Asn834His) single nucleotide variant not provided [RCV000415888] Chr2:201733356 [GRCh38]
Chr2:202598079 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.281T>G (p.Ile94Ser) single nucleotide variant not provided [RCV000415903] Chr2:201761713 [GRCh38]
Chr2:202626436 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4451G>A (p.Arg1484Gln) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001861458]|not provided [RCV000416251] Chr2:201706975 [GRCh38]
Chr2:202571698 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2171-7G>A single nucleotide variant ALS2-related disorder [RCV004537973]|Infantile-onset ascending hereditary spastic paralysis [RCV000537607]|not provided [RCV003437257] Chr2:201741861 [GRCh38]
Chr2:202606584 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.4022G>A (p.Arg1341His) single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV001198494]|Hereditary spastic paraplegia [RCV001848736]|Infantile-onset ascending hereditary spastic paralysis [RCV001865302]|Peripheral axonal neuropathy [RCV000415216]|not provided [RCV004791442] Chr2:201711091 [GRCh38]
Chr2:202575814 [GRCh37]
Chr2:2q33.1
likely pathogenic|uncertain significance|no classifications from unflagged records
NM_020919.4(ALS2):c.2833C>T (p.His945Tyr) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000813724] Chr2:201728520 [GRCh38]
Chr2:202593243 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4466T>C (p.Leu1489Pro) single nucleotide variant not provided [RCV000434514] Chr2:201706960 [GRCh38]
Chr2:202571683 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.624T>G (p.Cys208Trp) single nucleotide variant not provided [RCV000418753] Chr2:201761370 [GRCh38]
Chr2:202626093 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter) single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV000735438]|Amyotrophic lateral sclerosis type 2, juvenile [RCV002481351]|Inborn genetic diseases [RCV000624087]|Infantile-onset ascending hereditary spastic paralysis [RCV001851103]|not provided [RCV000421128] Chr2:201724392 [GRCh38]
Chr2:202589115 [GRCh37]
Chr2:2q33.1
pathogenic|likely pathogenic
NM_020919.4(ALS2):c.2581-1G>C single nucleotide variant not provided [RCV000426459] Chr2:201729184 [GRCh38]
Chr2:202593907 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.2337G>C (p.Leu779Phe) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002524858]|not provided [RCV000420295] Chr2:201741688 [GRCh38]
Chr2:202606411 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2638C>G (p.Leu880Val) single nucleotide variant Inborn genetic diseases [RCV004639235]|not provided [RCV000427011] Chr2:201729126 [GRCh38]
Chr2:202593849 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.368G>A (p.Cys123Tyr) single nucleotide variant not provided [RCV000430653] Chr2:201761626 [GRCh38]
Chr2:202626349 [GRCh37]
Chr2:2q33.1
likely pathogenic|uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
NM_020919.4(ALS2):c.4021C>T (p.Arg1341Cys) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000456215] Chr2:201711092 [GRCh38]
Chr2:202575815 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1816-1G>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000457236] Chr2:201746749 [GRCh38]
Chr2:202611472 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.3746T>C (p.Phe1249Ser) single nucleotide variant Hereditary spastic paraplegia [RCV000515900]|Infantile-onset ascending hereditary spastic paralysis [RCV000466171]|not provided [RCV001653833] Chr2:201718167 [GRCh38]
Chr2:202582890 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2222G>A (p.Arg741Gln) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000460592] Chr2:201741803 [GRCh38]
Chr2:202606526 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1977A>T (p.Pro659=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001444366] Chr2:201746587 [GRCh38]
Chr2:202611310 [GRCh37]
Chr2:2q33.1
likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_020919.4(ALS2):c.1578A>G (p.Thr526=) single nucleotide variant Hereditary spastic paraplegia [RCV001848841]|Infantile-onset ascending hereditary spastic paralysis [RCV001087516]|not provided [RCV000469355] Chr2:201754565 [GRCh38]
Chr2:202619288 [GRCh37]
Chr2:2q33.1
benign|likely benign|uncertain significance
NM_020919.4(ALS2):c.3319G>A (p.Gly1107Arg) single nucleotide variant Inborn genetic diseases [RCV002525622]|Infantile-onset ascending hereditary spastic paralysis [RCV000472844] Chr2:201725384 [GRCh38]
Chr2:202590107 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=) single nucleotide variant ALS2-related disorder [RCV001143531]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143532]|Hereditary spastic paraplegia [RCV001848840]|Infantile-onset ascending hereditary spastic paralysis [RCV000473535]|not provided [RCV001531945]|not specified [RCV001662448] Chr2:201718172 [GRCh38]
Chr2:202582895 [GRCh37]
Chr2:2q33.1
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020919.4(ALS2):c.735_738del (p.Glu246fs) deletion Infantile-onset ascending hereditary spastic paralysis [RCV001386854]|not provided [RCV000486714] Chr2:201761256..201761259 [GRCh38]
Chr2:202625979..202625982 [GRCh37]
Chr2:2q33.1
pathogenic|likely pathogenic
NM_020919.4(ALS2):c.4627-5T>C single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000554259] Chr2:201705205 [GRCh38]
Chr2:202569928 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3939A>C (p.Glu1313Asp) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV003611517]|not provided [RCV000498320] Chr2:201715737 [GRCh38]
Chr2:202580460 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4495C>T (p.Arg1499Cys) single nucleotide variant Hereditary spastic paraplegia [RCV001848876]|Infantile-onset ascending hereditary spastic paralysis [RCV000820889]|not specified [RCV000505894] Chr2:201706931 [GRCh38]
Chr2:202571654 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_020919.4(ALS2):c.2875C>A (p.Leu959Met) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000540876] Chr2:201727742 [GRCh38]
Chr2:202592465 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3486A>C (p.Gly1162=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000640995] Chr2:201724321 [GRCh38]
Chr2:202589044 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3309T>C (p.His1103=) single nucleotide variant ALS2-related disorder [RCV001136966]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001139217]|Infantile-onset ascending hereditary spastic paralysis [RCV001086810]|not provided [RCV000555606] Chr2:201725394 [GRCh38]
Chr2:202590117 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.1815+8T>G single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000560701] Chr2:201749704 [GRCh38]
Chr2:202614427 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3785C>T (p.Thr1262Ile) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000640991] Chr2:201718128 [GRCh38]
Chr2:202582851 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1641G>A (p.Arg547=) single nucleotide variant ALS2-related disorder [RCV001141938]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001141937]|Inborn genetic diseases [RCV003243183]|Infantile-onset ascending hereditary spastic paralysis [RCV000557506]|not provided [RCV001553526] Chr2:201753242 [GRCh38]
Chr2:202617965 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.1659A>G (p.Val553=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000535803] Chr2:201753224 [GRCh38]
Chr2:202617947 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3863C>T (p.Pro1288Leu) single nucleotide variant ALS2-related disorder [RCV001143530]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143529]|Infantile-onset ascending hereditary spastic paralysis [RCV000640987]|not provided [RCV002473084]|not specified [RCV002222571] Chr2:201715813 [GRCh38]
Chr2:202580536 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1233T>G (p.Tyr411Ter) single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV000763471]|Infantile-onset ascending hereditary spastic paralysis [RCV000640988] Chr2:201757640 [GRCh38]
Chr2:202622363 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.358G>T (p.Ala120Ser) single nucleotide variant Inborn genetic diseases [RCV002544659]|Infantile-onset ascending hereditary spastic paralysis [RCV000640992] Chr2:201761636 [GRCh38]
Chr2:202626359 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.1600G>C (p.Gly534Arg) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000640993]|not provided [RCV001771870] Chr2:201754543 [GRCh38]
Chr2:202619266 [GRCh37]
Chr2:2q33.1
likely pathogenic|uncertain significance
NM_020919.4(ALS2):c.3046C>G (p.Pro1016Ala) single nucleotide variant ALS2-related disorder [RCV001139218]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001139219]|Infantile-onset ascending hereditary spastic paralysis [RCV000640994]|not provided [RCV001591429] Chr2:201726800 [GRCh38]
Chr2:202591523 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.2979+5G>A single nucleotide variant not provided [RCV000513372] Chr2:201727207 [GRCh38]
Chr2:202591930 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3307C>A (p.His1103Asn) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000699894]|not specified [RCV004702344] Chr2:201725396 [GRCh38]
Chr2:202590119 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4382G>T (p.Arg1461Leu) single nucleotide variant not specified [RCV000714649] Chr2:201707890 [GRCh38]
Chr2:202572613 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4435C>T (p.Pro1479Ser) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000701598] Chr2:201706991 [GRCh38]
Chr2:202571714 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2098A>G (p.Thr700Ala) single nucleotide variant not provided [RCV000710521] Chr2:201744330 [GRCh38]
Chr2:202609053 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4171G>A (p.Val1391Ile) single nucleotide variant not provided [RCV000710525] Chr2:201709990 [GRCh38]
Chr2:202574713 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4403+4A>G single nucleotide variant not provided [RCV000710526] Chr2:201707865 [GRCh38]
Chr2:202572588 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3134A>T (p.Lys1045Met) single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV000764354]|Infantile-onset ascending hereditary spastic paralysis [RCV000704262] Chr2:201726712 [GRCh38]
Chr2:202591435 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3183-3C>G single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000692381] Chr2:201726552 [GRCh38]
Chr2:202591275 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4858G>A (p.Glu1620Lys) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000692382] Chr2:201704199 [GRCh38]
Chr2:202568922 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3449T>A (p.Met1150Lys) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000701693] Chr2:201724358 [GRCh38]
Chr2:202589081 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2979G>A (p.Lys993=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000701694] Chr2:201727212 [GRCh38]
Chr2:202591935 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1998+6C>G single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000706874] Chr2:201746560 [GRCh38]
Chr2:202611283 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3860_3865del (p.Val1287_Pro1288del) deletion Infantile-onset ascending hereditary spastic paralysis [RCV000704618] Chr2:201715811..201715816 [GRCh38]
Chr2:202580534..202580539 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2876T>C (p.Leu959Pro) single nucleotide variant Inborn genetic diseases [RCV002533654]|Infantile-onset ascending hereditary spastic paralysis [RCV000702466] Chr2:201727741 [GRCh38]
Chr2:202592464 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4345G>A (p.Glu1449Lys) single nucleotide variant Inborn genetic diseases [RCV003163233]|Infantile-onset ascending hereditary spastic paralysis [RCV000699373] Chr2:201707927 [GRCh38]
Chr2:202572650 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1472-188T>G single nucleotide variant not provided [RCV001575311] Chr2:201754859 [GRCh38]
Chr2:202619582 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4141C>T (p.His1381Tyr) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000817297] Chr2:201710020 [GRCh38]
Chr2:202574743 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.175+239G>A single nucleotide variant not provided [RCV001567729] Chr2:201766990 [GRCh38]
Chr2:202631713 [GRCh37]
Chr2:2q33.1
likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_020919.4(ALS2):c.4688+208G>T single nucleotide variant not provided [RCV001611468] Chr2:201704931 [GRCh38]
Chr2:202569654 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.4123-152dup duplication not provided [RCV001680454] Chr2:201710183..201710184 [GRCh38]
Chr2:202574906..202574907 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn) single nucleotide variant ALS2-related disorder [RCV001143735]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143736]|Hereditary spastic paraplegia [RCV001849153]|Infantile-onset ascending hereditary spastic paralysis [RCV000862041]|not provided [RCV001672966] Chr2:201754516 [GRCh38]
Chr2:202619239 [GRCh37]
Chr2:2q33.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020919.4(ALS2):c.3858A>G (p.Ala1286=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001434901] Chr2:201715818 [GRCh38]
Chr2:202580541 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4626+1G>A single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV003128270]|not provided [RCV001543521] Chr2:201705415 [GRCh38]
Chr2:202570138 [GRCh37]
Chr2:2q33.1
pathogenic|likely pathogenic
NM_020919.4(ALS2):c.4004+127A>G single nucleotide variant not provided [RCV001648636] Chr2:201715545 [GRCh38]
Chr2:202580268 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.3348-75A>G single nucleotide variant not provided [RCV001667912] Chr2:201724534 [GRCh38]
Chr2:202589257 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.3249-6T>G single nucleotide variant not provided [RCV000762310] Chr2:201725460 [GRCh38]
Chr2:202590183 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2528G>T (p.Arg843Leu) single nucleotide variant not provided [RCV000762311] Chr2:201733328 [GRCh38]
Chr2:202598051 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2171-181C>T single nucleotide variant not provided [RCV001550577] Chr2:201742035 [GRCh38]
Chr2:202606758 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4005-311A>G single nucleotide variant not provided [RCV001551207] Chr2:201711419 [GRCh38]
Chr2:202576142 [GRCh37]
Chr2:2q33.1
likely benign
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2
pathogenic
NM_020919.4(ALS2):c.175+251T>C single nucleotide variant not provided [RCV001575801] Chr2:201766978 [GRCh38]
Chr2:202631701 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2171-287C>T single nucleotide variant not provided [RCV001681319] Chr2:201742141 [GRCh38]
Chr2:202606864 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.-60-318C>T single nucleotide variant not provided [RCV001648749] Chr2:201769263 [GRCh38]
Chr2:202633986 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.366G>A (p.Gln122=) single nucleotide variant ALS2-related disorder [RCV001142056]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001142055]|Hereditary spastic paraplegia [RCV001847066]|Infantile-onset ascending hereditary spastic paralysis [RCV000866239] Chr2:201761628 [GRCh38]
Chr2:202626351 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.1164C>T (p.Ser388=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000867541]|not provided [RCV001585825] Chr2:201757709 [GRCh38]
Chr2:202622432 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1887A>G (p.Glu629=) single nucleotide variant not provided [RCV000866474] Chr2:201746677 [GRCh38]
Chr2:202611400 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4626+7T>C single nucleotide variant not provided [RCV000901009] Chr2:201705409 [GRCh38]
Chr2:202570132 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4854C>T (p.Gly1618=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000868541] Chr2:201704203 [GRCh38]
Chr2:202568926 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4773C>T (p.His1591=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000936790] Chr2:201704519 [GRCh38]
Chr2:202569242 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2912+9G>T single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002539075] Chr2:201727696 [GRCh38]
Chr2:202592419 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.879T>A (p.Thr293=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001412544] Chr2:201761115 [GRCh38]
Chr2:202625838 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3462G>A (p.Gln1154=) single nucleotide variant ALS2-related disorder [RCV001136959]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143536]|Infantile-onset ascending hereditary spastic paralysis [RCV000867659] Chr2:201724345 [GRCh38]
Chr2:202589068 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.2616T>C (p.Ser872=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001467084] Chr2:201729148 [GRCh38]
Chr2:202593871 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1674C>A (p.Gly558=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV003502576] Chr2:201753209 [GRCh38]
Chr2:202617932 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.2193A>G (p.Thr731=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001454584] Chr2:201741832 [GRCh38]
Chr2:202606555 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2028A>G (p.Gly676=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002539026] Chr2:201744400 [GRCh38]
Chr2:202609123 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4733C>T (p.Thr1578Ile) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001062208] Chr2:201704559 [GRCh38]
Chr2:202569282 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4763C>T (p.Ala1588Val) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001052966] Chr2:201704529 [GRCh38]
Chr2:202569252 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2980A>C (p.Thr994Pro) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001043391] Chr2:201726866 [GRCh38]
Chr2:202591589 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.725T>C (p.Met242Thr) single nucleotide variant ALS2-related disorder [RCV004536121]|Hereditary spastic paraplegia [RCV001847143]|Infantile-onset ascending hereditary spastic paralysis [RCV001061841]|not provided [RCV001585962] Chr2:201761269 [GRCh38]
Chr2:202625992 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2171-62C>T single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV001548878]|Infantile-onset ascending hereditary spastic paralysis [RCV001548880]|Juvenile primary lateral sclerosis [RCV001548879]|not provided [RCV001655873] Chr2:201741916 [GRCh38]
Chr2:202606639 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.4640C>T (p.Thr1547Met) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001059532] Chr2:201705187 [GRCh38]
Chr2:202569910 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4436C>G (p.Pro1479Arg) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001052543] Chr2:201706990 [GRCh38]
Chr2:202571713 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1439G>A (p.Arg480Gln) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000814363] Chr2:201757434 [GRCh38]
Chr2:202622157 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1479_1480insCGTGC (p.Leu495fs) insertion ALS2-related disorder [RCV000778585] Chr2:201754663..201754664 [GRCh38]
Chr2:202619386..202619387 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3330C>T (p.Cys1110=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001486067] Chr2:201725373 [GRCh38]
Chr2:202590096 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4914T>G (p.Gly1638=) single nucleotide variant not provided [RCV000923685] Chr2:201704143 [GRCh38]
Chr2:202568866 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.528C>T (p.Thr176=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002064534] Chr2:201761466 [GRCh38]
Chr2:202626189 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2979+8T>C single nucleotide variant Hereditary spastic paraplegia [RCV001847067]|Infantile-onset ascending hereditary spastic paralysis [RCV000866523] Chr2:201727204 [GRCh38]
Chr2:202591927 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.396G>A (p.Pro132=) single nucleotide variant ALS2-related disorder [RCV001142051]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001142052]|Inborn genetic diseases [RCV004639397]|Infantile-onset ascending hereditary spastic paralysis [RCV002539027] Chr2:201761598 [GRCh38]
Chr2:202626321 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.3018G>A (p.Gln1006=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001465405] Chr2:201726828 [GRCh38]
Chr2:202591551 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1054_1061del (p.Leu352fs) deletion Infantile-onset ascending hereditary spastic paralysis [RCV000984509] Chr2:201760933..201760940 [GRCh38]
Chr2:202625656..202625663 [GRCh37]
Chr2:2q33.1
pathogenic|likely pathogenic
NM_020919.4(ALS2):c.1054C>T (p.Leu352=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001453876] Chr2:201760940 [GRCh38]
Chr2:202625663 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2856T>C (p.His952=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000873530]|not provided [RCV003438530] Chr2:201727761 [GRCh38]
Chr2:202592484 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1640+10A>G single nucleotide variant ALS2-related disorder [RCV001143734]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001141939]|not provided [RCV000920182] Chr2:201754493 [GRCh38]
Chr2:202619216 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.218G>A (p.Gly73Glu) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000798218] Chr2:201761776 [GRCh38]
Chr2:202626499 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3622A>T (p.Met1208Leu) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000807997] Chr2:201723332 [GRCh38]
Chr2:202588055 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1325G>C (p.Gly442Ala) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000811586] Chr2:201757548 [GRCh38]
Chr2:202622271 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2566A>G (p.Thr856Ala) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000808452] Chr2:201733290 [GRCh38]
Chr2:202598013 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.628G>T (p.Ala210Ser) single nucleotide variant not provided [RCV000997647] Chr2:201761366 [GRCh38]
Chr2:202626089 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q33.1(chr2:202639314-202680220)x1 copy number loss not provided [RCV000846192] Chr2:202639314..202680220 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3520A>T (p.Lys1174Ter) single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV001375960]|Infantile-onset ascending hereditary spastic paralysis [RCV000800103]|not provided [RCV002051896] Chr2:201723434 [GRCh38]
Chr2:202588157 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.4415C>T (p.Thr1472Met) single nucleotide variant ALS2-related disorder [RCV001136863]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001136862]|Infantile-onset ascending hereditary spastic paralysis [RCV000803341] Chr2:201707011 [GRCh38]
Chr2:202571734 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.*1398C>A single nucleotide variant ALS2-related disorder [RCV001136647]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001136648] Chr2:201700453 [GRCh38]
Chr2:202565176 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4627G>T (p.Val1543Phe) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000793363] Chr2:201705200 [GRCh38]
Chr2:202569923 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4381C>T (p.Arg1461Ter) single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV001095479]|Infantile-onset ascending hereditary spastic paralysis [RCV001391373] Chr2:201707891 [GRCh38]
Chr2:202572614 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.2089G>A (p.Glu697Lys) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000818309] Chr2:201744339 [GRCh38]
Chr2:202609062 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3345C>T (p.Tyr1115=) single nucleotide variant ALS2-related disorder [RCV001136965]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001136964]|Infantile-onset ascending hereditary spastic paralysis [RCV002070598]|not provided [RCV001760096] Chr2:201725358 [GRCh38]
Chr2:202590081 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.*504G>A single nucleotide variant ALS2-related disorder [RCV001136753]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001136752] Chr2:201701347 [GRCh38]
Chr2:202566070 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.*426T>A single nucleotide variant ALS2-related disorder [RCV001136755]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001136754] Chr2:201701425 [GRCh38]
Chr2:202566148 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1129G>A (p.Ala377Thr) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001245925]|not provided [RCV000991511] Chr2:201757744 [GRCh38]
Chr2:202622467 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1998+4A>G single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000798363] Chr2:201746562 [GRCh38]
Chr2:202611285 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3394C>T (p.Arg1132Cys) single nucleotide variant ALS2-related disorder [RCV001136963]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001136962]|Infantile-onset ascending hereditary spastic paralysis [RCV001856750] Chr2:201724413 [GRCh38]
Chr2:202589136 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2450A>G (p.Gln817Arg) single nucleotide variant ALS2-related disorder [RCV001137066]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001139310] Chr2:201733406 [GRCh38]
Chr2:202598129 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1624G>A (p.Gly542Ser) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000820021] Chr2:201754519 [GRCh38]
Chr2:202619242 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.329G>T (p.Gly110Val) single nucleotide variant Inborn genetic diseases [RCV004027594]|Infantile-onset ascending hereditary spastic paralysis [RCV000797362]|not specified [RCV003396390] Chr2:201761665 [GRCh38]
Chr2:202626388 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4641G>A (p.Thr1547=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001461182]|not provided [RCV004721657] Chr2:201705186 [GRCh38]
Chr2:202569909 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3809A>G (p.Glu1270Gly) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001045715] Chr2:201718104 [GRCh38]
Chr2:202582827 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1816-7G>A single nucleotide variant ALS2-related disorder [RCV001139314]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001139313]|Infantile-onset ascending hereditary spastic paralysis [RCV002559343] Chr2:201746755 [GRCh38]
Chr2:202611478 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34
pathogenic
NM_020919.4(ALS2):c.2472C>T (p.Asp824=) single nucleotide variant ALS2-related disorder [RCV001137064]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001137065] Chr2:201733384 [GRCh38]
Chr2:202598107 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1151C>T (p.Pro384Leu) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001858860]|not provided [RCV000997646] Chr2:201757722 [GRCh38]
Chr2:202622445 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.*1219C>G single nucleotide variant ALS2-related disorder [RCV001138894]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001138895] Chr2:201700632 [GRCh38]
Chr2:202565355 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.*302A>G single nucleotide variant ALS2-related disorder [RCV001138987]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001138988] Chr2:201701549 [GRCh38]
Chr2:202566272 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3466G>C (p.Val1156Leu) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001479936] Chr2:201724341 [GRCh38]
Chr2:202589064 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.601C>T (p.Arg201Ter) single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV000991371]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001030773]|Infantile-onset ascending hereditary spastic paralysis [RCV000995488] Chr2:201761393 [GRCh38]
Chr2:202626116 [GRCh37]
Chr2:2q33.1
pathogenic|likely pathogenic
NM_020919.4(ALS2):c.1558C>T (p.Leu520Phe) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001039202]|not provided [RCV000991512] Chr2:201754585 [GRCh38]
Chr2:202619308 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.1960A>C (p.Ser654Arg) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002549759]|not provided [RCV000991513] Chr2:201746604 [GRCh38]
Chr2:202611327 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4818A>G (p.Leu1606=) single nucleotide variant not provided [RCV000991515] Chr2:201704474 [GRCh38]
Chr2:202569197 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4753_4754dup (p.Ser1585fs) microsatellite Amyotrophic lateral sclerosis type 2, juvenile [RCV001250151] Chr2:201704537..201704538 [GRCh38]
Chr2:202569260..202569261 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.3331G>A (p.Gly1111Ser) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001242459]|not provided [RCV001729818] Chr2:201725372 [GRCh38]
Chr2:202590095 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1964G>A (p.Gly655Asp) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001222683] Chr2:201746600 [GRCh38]
Chr2:202611323 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3583G>T (p.Gly1195Ter) single nucleotide variant Juvenile primary lateral sclerosis [RCV000995485] Chr2:201723371 [GRCh38]
Chr2:202588094 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.913del (p.Glu304_Leu305insTer) deletion Infantile-onset ascending hereditary spastic paralysis [RCV000995487] Chr2:201761081 [GRCh38]
Chr2:202625804 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.1886A>G (p.Glu629Gly) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001206576] Chr2:201746678 [GRCh38]
Chr2:202611401 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2632C>T (p.Leu878Phe) single nucleotide variant Inborn genetic diseases [RCV002568563]|Infantile-onset ascending hereditary spastic paralysis [RCV001243074]|not provided [RCV001289225] Chr2:201729132 [GRCh38]
Chr2:202593855 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4544_4547dup (p.Ile1517fs) duplication Infantile-onset ascending hereditary spastic paralysis [RCV001232129] Chr2:201706878..201706879 [GRCh38]
Chr2:202571601..202571602 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.3440C>G (p.Ser1147Cys) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001221691]|not provided [RCV003142176] Chr2:201724367 [GRCh38]
Chr2:202589090 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1783G>A (p.Asp595Asn) single nucleotide variant Inborn genetic diseases [RCV003284109]|Infantile-onset ascending hereditary spastic paralysis [RCV001240971]|not provided [RCV001760268] Chr2:201749744 [GRCh38]
Chr2:202614467 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.269G>A (p.Gly90Glu) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001219528] Chr2:201761725 [GRCh38]
Chr2:202626448 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3047C>T (p.Pro1016Leu) single nucleotide variant Inborn genetic diseases [RCV002549760]|not provided [RCV000991514] Chr2:201726799 [GRCh38]
Chr2:202591522 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1011A>G (p.Pro337=) single nucleotide variant ALS2-related disorder [RCV001140202]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001140201] Chr2:201760983 [GRCh38]
Chr2:202625706 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.886G>A (p.Ala296Thr) single nucleotide variant ALS2-related disorder [RCV001140204]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001140203]|Infantile-onset ascending hereditary spastic paralysis [RCV002559355]|not provided [RCV001579560] Chr2:201761108 [GRCh38]
Chr2:202625831 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.-99C>T single nucleotide variant ALS2-related disorder [RCV001140305]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001140304] Chr2:201780915 [GRCh38]
Chr2:202645638 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.*584G>A single nucleotide variant ALS2-related disorder [RCV001136750]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001136751] Chr2:201701267 [GRCh38]
Chr2:202565990 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1545A>C (p.Gly515=) single nucleotide variant ALS2-related disorder [RCV001143738]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143737] Chr2:201754598 [GRCh38]
Chr2:202619321 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2802T>C (p.Asn934=) single nucleotide variant ALS2-related disorder [RCV001141834]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001141835]|Infantile-onset ascending hereditary spastic paralysis [RCV003502590] Chr2:201728551 [GRCh38]
Chr2:202593274 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.2737C>T (p.Arg913Ter) single nucleotide variant not provided [RCV001090657] Chr2:201728616 [GRCh38]
Chr2:202593339 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.313G>A (p.Ala105Thr) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002554816]|not provided [RCV001090659] Chr2:201761681 [GRCh38]
Chr2:202626404 [GRCh37]
Chr2:2q33.1
uncertain significance
NC_000002.11:g.(?_201943606)_(204824322_?)dup duplication Autoimmune lymphoproliferative syndrome type 2B [RCV003105677]|Immunodeficiency, common variable, 1 [RCV003122553] Chr2:201943606..204824322 [GRCh37]
Chr2:2q33.1-33.2
uncertain significance
NM_020919.4(ALS2):c.142C>G (p.Leu48Val) single nucleotide variant Amyotrophic lateral sclerosis [RCV003107983] Chr2:201767262 [GRCh38]
Chr2:202631985 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.2580+63G>A single nucleotide variant not provided [RCV001571763] Chr2:201733213 [GRCh38]
Chr2:202597936 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.146G>T (p.Gly49Val) single nucleotide variant not provided [RCV001663633] Chr2:201767258 [GRCh38]
Chr2:202631981 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4627-69T>A single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV001549124]|Infantile-onset ascending hereditary spastic paralysis [RCV001549126]|Juvenile primary lateral sclerosis [RCV001549125]|not provided [RCV001713030] Chr2:201705269 [GRCh38]
Chr2:202569992 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.4581-297G>A single nucleotide variant not provided [RCV001574308] Chr2:201705758 [GRCh38]
Chr2:202570481 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1998+30A>G single nucleotide variant not provided [RCV001570461] Chr2:201746536 [GRCh38]
Chr2:202611259 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3347+227dup duplication not provided [RCV001621276] Chr2:201725112..201725113 [GRCh38]
Chr2:202589835..202589836 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.-60-70dup duplication not provided [RCV001610047] Chr2:201769002..201769003 [GRCh38]
Chr2:202633725..202633726 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.3512+233C>G single nucleotide variant not provided [RCV001549614] Chr2:201724062 [GRCh38]
Chr2:202588785 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.-60-70_-60-69dup duplication not provided [RCV001554894] Chr2:201769002..201769003 [GRCh38]
Chr2:202633725..202633726 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.176-239C>T single nucleotide variant not provided [RCV001560509] Chr2:201762057 [GRCh38]
Chr2:202626780 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3347+287G>A single nucleotide variant not provided [RCV001652874] Chr2:201725069 [GRCh38]
Chr2:202589792 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.1999-171G>C single nucleotide variant not provided [RCV001560685] Chr2:201744600 [GRCh38]
Chr2:202609323 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4581-313dup duplication not provided [RCV001725383] Chr2:201705765..201705766 [GRCh38]
Chr2:202570488..202570489 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.21-208C>T single nucleotide variant not provided [RCV001560891] Chr2:201767591 [GRCh38]
Chr2:202632314 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3702+183G>T single nucleotide variant not provided [RCV001654026] Chr2:201722860 [GRCh38]
Chr2:202587583 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.2713-198_2713-195del microsatellite not provided [RCV001608486] Chr2:201728835..201728838 [GRCh38]
Chr2:202593558..202593561 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.4005-127T>C single nucleotide variant not provided [RCV001572308] Chr2:201711235 [GRCh38]
Chr2:202575958 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.21-189T>A single nucleotide variant not provided [RCV001561806] Chr2:201767572 [GRCh38]
Chr2:202632295 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1815+216C>G single nucleotide variant not provided [RCV001669636] Chr2:201749496 [GRCh38]
Chr2:202614219 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.2841+261G>A single nucleotide variant not provided [RCV001696284] Chr2:201728251 [GRCh38]
Chr2:202592974 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.2841+253G>A single nucleotide variant not provided [RCV001688836] Chr2:201728259 [GRCh38]
Chr2:202592982 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.4936-233G>A single nucleotide variant not provided [RCV001557277] Chr2:201702122 [GRCh38]
Chr2:202566845 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3981C>T (p.Thr1327=) single nucleotide variant not provided [RCV001663637] Chr2:201715695 [GRCh38]
Chr2:202580418 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4936-152G>A single nucleotide variant not provided [RCV001614526] Chr2:201702041 [GRCh38]
Chr2:202566764 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.4404-183A>C single nucleotide variant not provided [RCV001552225] Chr2:201707205 [GRCh38]
Chr2:202571928 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2580+208C>T single nucleotide variant not provided [RCV001552624] Chr2:201733068 [GRCh38]
Chr2:202597791 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2913-8C>T single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000868682] Chr2:201727286 [GRCh38]
Chr2:202592009 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2541C>T (p.Tyr847=) single nucleotide variant ALS2-related disorder [RCV001143636]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143637]|Infantile-onset ascending hereditary spastic paralysis [RCV001460449] Chr2:201733315 [GRCh38]
Chr2:202598038 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.3905G>A (p.Arg1302His) single nucleotide variant ALS2-related disorder [RCV001141707]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001141706]|Infantile-onset ascending hereditary spastic paralysis [RCV000862275]|not provided [RCV004711313] Chr2:201715771 [GRCh38]
Chr2:202580494 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3558G>A (p.Gly1186=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001425675] Chr2:201723396 [GRCh38]
Chr2:202588119 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2403T>C (p.Leu801=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000952381] Chr2:201738684 [GRCh38]
Chr2:202603407 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.861A>G (p.Glu287=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000862702] Chr2:201761133 [GRCh38]
Chr2:202625856 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2912+8C>T single nucleotide variant ALS2-related disorder [RCV001141833]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001141832]|Hereditary spastic paraplegia [RCV001847072]|Infantile-onset ascending hereditary spastic paralysis [RCV002538983] Chr2:201727697 [GRCh38]
Chr2:202592420 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.4200C>T (p.Gly1400=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002547224] Chr2:201709961 [GRCh38]
Chr2:202574684 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3078G>A (p.Gln1026=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000877226] Chr2:201726768 [GRCh38]
Chr2:202591491 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3983G>A (p.Ser1328Asn) single nucleotide variant ALS2-related disorder [RCV001139099]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001139098]|Inborn genetic diseases [RCV003363119]|Infantile-onset ascending hereditary spastic paralysis [RCV001856786] Chr2:201715693 [GRCh38]
Chr2:202580416 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.2362T>A (p.Ser788Thr) single nucleotide variant ALS2-related disorder [RCV001139311]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001139312]|Infantile-onset ascending hereditary spastic paralysis [RCV001856790] Chr2:201738725 [GRCh38]
Chr2:202603448 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3956A>G (p.Asp1319Gly) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001066043] Chr2:201715720 [GRCh38]
Chr2:202580443 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1815+4_1815+15del deletion Infantile-onset ascending hereditary spastic paralysis [RCV001227871] Chr2:201749697..201749708 [GRCh38]
Chr2:202614420..202614431 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4145C>T (p.Pro1382Leu) single nucleotide variant Inborn genetic diseases [RCV004033667]|Infantile-onset ascending hereditary spastic paralysis [RCV001206296] Chr2:201710016 [GRCh38]
Chr2:202574739 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2221C>T (p.Arg741Ter) single nucleotide variant Amyotrophic lateral sclerosis [RCV003106160]|Infantile-onset ascending hereditary spastic paralysis [RCV001234628] Chr2:201741804 [GRCh38]
Chr2:202606527 [GRCh37]
Chr2:2q33.1
pathogenic|likely pathogenic
NM_020919.4(ALS2):c.1402G>A (p.Val468Met) single nucleotide variant ALS2-related disorder [RCV001143739]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143740] Chr2:201757471 [GRCh38]
Chr2:202622194 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4261C>T (p.Arg1421Ter) single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV002500830]|Infantile-onset ascending hereditary spastic paralysis [RCV000986979] Chr2:201709900 [GRCh38]
Chr2:202574623 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.1911C>A (p.Tyr637Ter) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000986980] Chr2:201746653 [GRCh38]
Chr2:202611376 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.2443C>T (p.Leu815=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002065813] Chr2:201733413 [GRCh38]
Chr2:202598136 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2088C>T (p.His696=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002071902]|not provided [RCV001531946] Chr2:201744340 [GRCh38]
Chr2:202609063 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2979+102C>G single nucleotide variant not provided [RCV001577512] Chr2:201727110 [GRCh38]
Chr2:202591833 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.-60-58del deletion not provided [RCV001575660] Chr2:201769003 [GRCh38]
Chr2:202633726 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2841+136C>T single nucleotide variant not provided [RCV001575184] Chr2:201728376 [GRCh38]
Chr2:202593099 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3703-2A>C single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV003229781] Chr2:201718212 [GRCh38]
Chr2:202582935 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.3348-290A>G single nucleotide variant not provided [RCV001552065] Chr2:201724749 [GRCh38]
Chr2:202589472 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2104G>T (p.Glu702Ter) single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV000991370] Chr2:201744324 [GRCh38]
Chr2:202609047 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.3702+107G>T single nucleotide variant not provided [RCV001558400] Chr2:201722936 [GRCh38]
Chr2:202587659 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4005-111G>A single nucleotide variant not provided [RCV001619685] Chr2:201711219 [GRCh38]
Chr2:202575942 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.21-246C>T single nucleotide variant not provided [RCV001558863] Chr2:201767629 [GRCh38]
Chr2:202632352 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1640+154C>G single nucleotide variant not provided [RCV001559428] Chr2:201754349 [GRCh38]
Chr2:202619072 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4935+281T>C single nucleotide variant not provided [RCV001669525] Chr2:201703841 [GRCh38]
Chr2:202568564 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.175+123T>A single nucleotide variant not provided [RCV001549787] Chr2:201767106 [GRCh38]
Chr2:202631829 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3702+113G>A single nucleotide variant not provided [RCV001678329] Chr2:201722930 [GRCh38]
Chr2:202587653 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.2713-2A>C single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002259431] Chr2:201728642 [GRCh38]
Chr2:202593365 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.3249-293G>C single nucleotide variant not provided [RCV001556460] Chr2:201725747 [GRCh38]
Chr2:202590470 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.346G>A (p.Gly116Arg) single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV001263249] Chr2:201761648 [GRCh38]
Chr2:202626371 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2581-274T>C single nucleotide variant not provided [RCV001615657] Chr2:201729457 [GRCh38]
Chr2:202594180 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.3702+180A>G single nucleotide variant not provided [RCV001615663] Chr2:201722863 [GRCh38]
Chr2:202587586 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.4281-196C>T single nucleotide variant not provided [RCV001722906] Chr2:201708187 [GRCh38]
Chr2:202572910 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.21-294G>A single nucleotide variant not provided [RCV001660919] Chr2:201767677 [GRCh38]
Chr2:202632400 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.3722A>G (p.Asn1241Ser) single nucleotide variant not provided [RCV001579762] Chr2:201718191 [GRCh38]
Chr2:202582914 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2980-26T>A single nucleotide variant not provided [RCV001652977] Chr2:201726892 [GRCh38]
Chr2:202591615 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.3347+248T>C single nucleotide variant not provided [RCV001617170] Chr2:201725108 [GRCh38]
Chr2:202589831 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.3315A>G (p.Lys1105=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV003771828]|not provided [RCV001663635] Chr2:201725388 [GRCh38]
Chr2:202590111 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.2979+155dup duplication not provided [RCV001636108] Chr2:201727046..201727047 [GRCh38]
Chr2:202591769..202591770 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.2842-20C>T single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV002488436]|Infantile-onset ascending hereditary spastic paralysis [RCV002070458]|not provided [RCV001590574] Chr2:201727795 [GRCh38]
Chr2:202592518 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.4005-134G>T single nucleotide variant not provided [RCV001596013] Chr2:201711242 [GRCh38]
Chr2:202575965 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.3703-135G>A single nucleotide variant not provided [RCV001596071] Chr2:201718345 [GRCh38]
Chr2:202583068 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2913-30_2913-26del deletion not provided [RCV001658461] Chr2:201727304..201727308 [GRCh38]
Chr2:202592027..202592031 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.2581-133T>C single nucleotide variant not provided [RCV001673384] Chr2:201729316 [GRCh38]
Chr2:202594039 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.1113+202T>G single nucleotide variant not provided [RCV001635754] Chr2:201760679 [GRCh38]
Chr2:202625402 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.1685T>C (p.Ile562Thr) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001866245]|not provided [RCV001596470] Chr2:201753198 [GRCh38]
Chr2:202617921 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4957C>T (p.Arg1653Cys) single nucleotide variant ALS2-related disorder [RCV001141602]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001141603]|Infantile-onset ascending hereditary spastic paralysis [RCV001208992]|not provided [RCV002509617] Chr2:201701868 [GRCh38]
Chr2:202566591 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2580+15A>G single nucleotide variant ALS2-related disorder [RCV001143634]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143635] Chr2:201733261 [GRCh38]
Chr2:202597984 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.*586G>A single nucleotide variant ALS2-related disorder [RCV001143325]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143326] Chr2:201701265 [GRCh38]
Chr2:202565988 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4627-4G>A single nucleotide variant ALS2-related disorder [RCV001143424]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143425]|Infantile-onset ascending hereditary spastic paralysis [RCV002557055] Chr2:201705204 [GRCh38]
Chr2:202569927 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.4566T>C (p.Phe1522=) single nucleotide variant ALS2-related disorder [RCV001143426]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143427]|Infantile-onset ascending hereditary spastic paralysis [RCV002070726] Chr2:201706860 [GRCh38]
Chr2:202571583 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.508G>A (p.Glu170Lys) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001049451]|not provided [RCV004792669] Chr2:201761486 [GRCh38]
Chr2:202626209 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3658A>G (p.Ile1220Val) single nucleotide variant ALS2-related disorder [RCV001143533]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143534]|Inborn genetic diseases [RCV003163319]|Infantile-onset ascending hereditary spastic paralysis [RCV001858942] Chr2:201723087 [GRCh38]
Chr2:202587810 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.*1501A>G single nucleotide variant ALS2-related disorder [RCV001136646]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001136645] Chr2:201700350 [GRCh38]
Chr2:202565073 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3161T>C (p.Leu1054Pro) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001089473] Chr2:201726685 [GRCh38]
Chr2:202591408 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.275_276del (p.Tyr92fs) microsatellite Juvenile primary lateral sclerosis [RCV001089475] Chr2:201761718..201761719 [GRCh38]
Chr2:202626441..202626442 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.*1079A>G single nucleotide variant ALS2-related disorder [RCV001141487]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001141488] Chr2:201700772 [GRCh38]
Chr2:202565495 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1783G>T (p.Asp595Tyr) single nucleotide variant ALS2-related disorder [RCV001141936]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001141935] Chr2:201749744 [GRCh38]
Chr2:202614467 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3348-313A>G single nucleotide variant not provided [RCV001724480] Chr2:201724772 [GRCh38]
Chr2:202589495 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.*1093C>T single nucleotide variant ALS2-related disorder [RCV001138896]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001138897] Chr2:201700758 [GRCh38]
Chr2:202565481 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4581-71C>T single nucleotide variant not provided [RCV001588701] Chr2:201705532 [GRCh38]
Chr2:202570255 [GRCh37]
Chr2:2q33.1
likely benign
Single allele deletion Pulmonary arterial hypertension [RCV001004033] Chr2:201106432..204901548 [GRCh37]
Chr2:2q33.1-33.3
pathogenic
NM_020919.4(ALS2):c.2953C>T (p.Leu985Phe) single nucleotide variant ALS2-related disorder [RCV001139222]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001141831] Chr2:201727238 [GRCh38]
Chr2:202591961 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2417+246T>C single nucleotide variant not provided [RCV001644436] Chr2:201738424 [GRCh38]
Chr2:202603147 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.4004+67A>C single nucleotide variant not provided [RCV001587685] Chr2:201715605 [GRCh38]
Chr2:202580328 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2713-96T>C single nucleotide variant not provided [RCV001667610] Chr2:201728736 [GRCh38]
Chr2:202593459 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.3702+51dup duplication not provided [RCV001714651] Chr2:201722983..201722984 [GRCh38]
Chr2:202587706..202587707 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.4403+255C>T single nucleotide variant not provided [RCV001614341] Chr2:201707614 [GRCh38]
Chr2:202572337 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.2351+204G>A single nucleotide variant not provided [RCV001690228] Chr2:201741470 [GRCh38]
Chr2:202606193 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.2913-58C>T single nucleotide variant not provided [RCV001681060] Chr2:201727336 [GRCh38]
Chr2:202592059 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.1718C>A (p.Ala573Glu) single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV001095477]|Infantile-onset ascending hereditary spastic paralysis [RCV001089471] Chr2:201753165 [GRCh38]
Chr2:202617888 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.1044C>G (p.Tyr348Ter) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001089472] Chr2:201760950 [GRCh38]
Chr2:202625673 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.4935+226C>T single nucleotide variant not provided [RCV001584859] Chr2:201703896 [GRCh38]
Chr2:202568619 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4281-326G>C single nucleotide variant not provided [RCV001709847] Chr2:201708317 [GRCh38]
Chr2:202573040 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.3513-166A>G single nucleotide variant not provided [RCV001679010] Chr2:201723607 [GRCh38]
Chr2:202588330 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.1998+194A>G single nucleotide variant not provided [RCV001692666] Chr2:201746372 [GRCh38]
Chr2:202611095 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.1999-213C>T single nucleotide variant not provided [RCV001616508] Chr2:201744642 [GRCh38]
Chr2:202609365 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.2919C>G (p.Gly973=) single nucleotide variant not provided [RCV001663634] Chr2:201727272 [GRCh38]
Chr2:202591995 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.176-84T>G single nucleotide variant not provided [RCV001679359] Chr2:201761902 [GRCh38]
Chr2:202626625 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.2913-202A>G single nucleotide variant not provided [RCV001584003] Chr2:201727480 [GRCh38]
Chr2:202592203 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2016_2026del (p.Val673fs) deletion Infantile-onset ascending hereditary spastic paralysis [RCV001217451] Chr2:201744402..201744412 [GRCh38]
Chr2:202609125..202609135 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.*1328G>T single nucleotide variant ALS2-related disorder [RCV001136650]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001136649] Chr2:201700523 [GRCh38]
Chr2:202565246 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.*1259A>G single nucleotide variant ALS2-related disorder [RCV001136652]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001136651] Chr2:201700592 [GRCh38]
Chr2:202565315 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3721A>C (p.Asn1241His) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001201853] Chr2:201718192 [GRCh38]
Chr2:202582915 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2961A>G (p.Ser987=) single nucleotide variant ALS2-related disorder [RCV001139221]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001139220] Chr2:201727230 [GRCh38]
Chr2:202591953 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1325G>T (p.Gly442Val) single nucleotide variant ALS2-related disorder [RCV001143741]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001137181] Chr2:201757548 [GRCh38]
Chr2:202622271 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2528G>A (p.Arg843Gln) single nucleotide variant ALS2-related disorder [RCV001137063]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143638]|Inborn genetic diseases [RCV002556912]|Infantile-onset ascending hereditary spastic paralysis [RCV002558301] Chr2:201733328 [GRCh38]
Chr2:202598051 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.339C>T (p.Tyr113=) single nucleotide variant ALS2-related disorder [RCV001137293]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001142057]|Infantile-onset ascending hereditary spastic paralysis [RCV001444397] Chr2:201761655 [GRCh38]
Chr2:202626378 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.3062G>A (p.Ser1021Asn) single nucleotide variant Inborn genetic diseases [RCV002554409]|Infantile-onset ascending hereditary spastic paralysis [RCV001058481] Chr2:201726784 [GRCh38]
Chr2:202591507 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.*843G>A single nucleotide variant ALS2-related disorder [RCV001143321]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143322] Chr2:201701008 [GRCh38]
Chr2:202565731 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.2430T>G (p.Asn810Lys) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001218139] Chr2:201733426 [GRCh38]
Chr2:202598149 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1472-10T>G single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001215400] Chr2:201754681 [GRCh38]
Chr2:202619404 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.4838+1del deletion Infantile-onset ascending hereditary spastic paralysis [RCV001218439] Chr2:201704453 [GRCh38]
Chr2:202569176 [GRCh37]
Chr2:2q33.1
pathogenic|likely pathogenic
NM_020919.4(ALS2):c.1960A>G (p.Ser654Gly) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001233911] Chr2:201746604 [GRCh38]
Chr2:202611327 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3442C>T (p.Pro1148Ser) single nucleotide variant Inborn genetic diseases [RCV004030744]|Infantile-onset ascending hereditary spastic paralysis [RCV001070332] Chr2:201724365 [GRCh38]
Chr2:202589088 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1016A>G (p.Tyr339Cys) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001070387] Chr2:201760978 [GRCh38]
Chr2:202625701 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.154C>T (p.His52Tyr) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001202441] Chr2:201767250 [GRCh38]
Chr2:202631973 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2849C>T (p.Thr950Met) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001216844] Chr2:201727768 [GRCh38]
Chr2:202592491 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.367T>C (p.Cys123Arg) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001064572]|Juvenile primary lateral sclerosis [RCV001331156] Chr2:201761627 [GRCh38]
Chr2:202626350 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1471+1G>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001089476] Chr2:201757401 [GRCh38]
Chr2:202622124 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.4837A>T (p.Arg1613Trp) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001064769] Chr2:201704455 [GRCh38]
Chr2:202569178 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.395C>T (p.Pro132Leu) single nucleotide variant ALS2-related disorder [RCV001142053]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001142054]|Infantile-onset ascending hereditary spastic paralysis [RCV001246012] Chr2:201761599 [GRCh38]
Chr2:202626322 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.88A>G (p.Ile30Val) single nucleotide variant Inborn genetic diseases [RCV002551481]|Infantile-onset ascending hereditary spastic paralysis [RCV001040936]|not provided [RCV001311979] Chr2:201767316 [GRCh38]
Chr2:202632039 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.3416G>A (p.Arg1139Gln) single nucleotide variant ALS2-related disorder [RCV001136960]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001136961]|Infantile-onset ascending hereditary spastic paralysis [RCV001367326]|not provided [RCV002473205] Chr2:201724391 [GRCh38]
Chr2:202589114 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3547G>A (p.Val1183Met) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001055843] Chr2:201723407 [GRCh38]
Chr2:202588130 [GRCh37]
Chr2:2q33.1
uncertain significance
NC_000002.12:g.201705201del deletion Global developmental delay [RCV001003959] Chr2:201705200 [GRCh38]
Chr2:202569923 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.*1533C>T single nucleotide variant ALS2-related disorder [RCV001143215]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143216] Chr2:201700318 [GRCh38]
Chr2:202565041 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.*764A>G single nucleotide variant ALS2-related disorder [RCV001143323]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143324] Chr2:201701087 [GRCh38]
Chr2:202565810 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4808C>T (p.Pro1603Leu) single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV001095480] Chr2:201704484 [GRCh38]
Chr2:202569207 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.3280A>G (p.Met1094Val) single nucleotide variant Inborn genetic diseases [RCV002563165]|Infantile-onset ascending hereditary spastic paralysis [RCV001229607] Chr2:201725423 [GRCh38]
Chr2:202590146 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4871T>C (p.Ile1624Thr) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001862739]|Microcephaly [RCV001252923] Chr2:201704186 [GRCh38]
Chr2:202568909 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q33.1(chr2:202460698-202566764)x3 copy number gain not provided [RCV001258572] Chr2:202460698..202566764 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_020919.4(ALS2):c.1178A>G (p.Asn393Ser) single nucleotide variant not provided [RCV001663632] Chr2:201757695 [GRCh38]
Chr2:202622418 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3849A>C (p.Gly1283=) single nucleotide variant not provided [RCV001663636] Chr2:201715827 [GRCh38]
Chr2:202580550 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q33.1(chr2:202011822-202749788)x1 copy number loss not provided [RCV001258573] Chr2:202011822..202749788 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2606A>C (p.Gln869Pro) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001313031] Chr2:201729158 [GRCh38]
Chr2:202593881 [GRCh37]
Chr2:2q33.1
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic
NM_020919.4(ALS2):c.1652T>A (p.Leu551Ter) single nucleotide variant not provided [RCV001268510] Chr2:201753231 [GRCh38]
Chr2:202617954 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.461A>G (p.Gln154Arg) single nucleotide variant not provided [RCV001287972] Chr2:201761533 [GRCh38]
Chr2:202626256 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV002280608] Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34
pathogenic
NM_020919.4(ALS2):c.2855A>G (p.His952Arg) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001315964] Chr2:201727762 [GRCh38]
Chr2:202592485 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.37G>A (p.Gly13Arg) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001307090] Chr2:201767367 [GRCh38]
Chr2:202632090 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1502G>A (p.Arg501Gln) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001319335] Chr2:201754641 [GRCh38]
Chr2:202619364 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3113dup (p.Tyr1039fs) duplication Amyotrophic lateral sclerosis type 2 [RCV001335999] Chr2:201726732..201726733 [GRCh38]
Chr2:202591455..202591456 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.4333C>G (p.Pro1445Ala) single nucleotide variant Inborn genetic diseases [RCV004035868]|Infantile-onset ascending hereditary spastic paralysis [RCV001338661] Chr2:201707939 [GRCh38]
Chr2:202572662 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.45G>C (p.Lys15Asn) single nucleotide variant not provided [RCV001663638] Chr2:201767359 [GRCh38]
Chr2:202632082 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1738-120A>C single nucleotide variant not provided [RCV001537097] Chr2:201749909 [GRCh38]
Chr2:202614632 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.4909C>T (p.Gln1637Ter) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001352403] Chr2:201704148 [GRCh38]
Chr2:202568871 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3872A>G (p.Glu1291Gly) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001374257] Chr2:201715804 [GRCh38]
Chr2:202580527 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.4146C>G (p.Pro1382=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001396547] Chr2:201710015 [GRCh38]
Chr2:202574738 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3273C>T (p.Asn1091=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001392208] Chr2:201725430 [GRCh38]
Chr2:202590153 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1737+3A>G single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001337160] Chr2:201753143 [GRCh38]
Chr2:202617866 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1816A>T (p.Ile606Leu) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001304408] Chr2:201746748 [GRCh38]
Chr2:202611471 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4861G>A (p.Val1621Ile) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001359223]|not provided [RCV004793458] Chr2:201704196 [GRCh38]
Chr2:202568919 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.3221G>A (p.Gly1074Asp) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001391371] Chr2:201726511 [GRCh38]
Chr2:202591234 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.3513-1G>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001391372] Chr2:201723442 [GRCh38]
Chr2:202588165 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.2326A>G (p.Ser776Gly) single nucleotide variant not provided [RCV001289223] Chr2:201741699 [GRCh38]
Chr2:202606422 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4022G>T (p.Arg1341Leu) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001349548] Chr2:201711091 [GRCh38]
Chr2:202575814 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.602G>A (p.Arg201Gln) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001361252] Chr2:201761392 [GRCh38]
Chr2:202626115 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.469T>G (p.Cys157Gly) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001347186] Chr2:201761525 [GRCh38]
Chr2:202626248 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4177G>A (p.Val1393Met) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001322185] Chr2:201709984 [GRCh38]
Chr2:202574707 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3616A>G (p.Lys1206Glu) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001319256] Chr2:201723338 [GRCh38]
Chr2:202588061 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1988C>T (p.Ser663Phe) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001361989] Chr2:201746576 [GRCh38]
Chr2:202611299 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3594C>T (p.Tyr1198=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002543585]|not provided [RCV001311977] Chr2:201723360 [GRCh38]
Chr2:202588083 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4478A>C (p.Tyr1493Ser) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001319743] Chr2:201706948 [GRCh38]
Chr2:202571671 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.326del (p.Asn109fs) deletion Infantile-onset ascending hereditary spastic paralysis [RCV001391369] Chr2:201761668 [GRCh38]
Chr2:202626391 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.1009C>T (p.Pro337Ser) single nucleotide variant not provided [RCV001354488] Chr2:201760985 [GRCh38]
Chr2:202625708 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.474C>T (p.Gly158=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001296339]|not provided [RCV001597266] Chr2:201761520 [GRCh38]
Chr2:202626243 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.575C>T (p.Pro192Leu) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001391370] Chr2:201761419 [GRCh38]
Chr2:202626142 [GRCh37]
Chr2:2q33.1
pathogenic|conflicting interpretations of pathogenicity
NM_020919.4(ALS2):c.956C>T (p.Ser319Phe) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001359220] Chr2:201761038 [GRCh38]
Chr2:202625761 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4832G>A (p.Arg1611Gln) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001391374] Chr2:201704460 [GRCh38]
Chr2:202569183 [GRCh37]
Chr2:2q33.1
pathogenic|conflicting interpretations of pathogenicity
NM_020919.4(ALS2):c.2487G>A (p.Leu829=) single nucleotide variant Juvenile primary lateral sclerosis [RCV001331155] Chr2:201733369 [GRCh38]
Chr2:202598092 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2913-13G>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001473272] Chr2:201727291 [GRCh38]
Chr2:202592014 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2842-9C>G single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001441101] Chr2:201727784 [GRCh38]
Chr2:202592507 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4107G>A (p.Arg1369=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001451521]|not provided [RCV004809612] Chr2:201711006 [GRCh38]
Chr2:202575729 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.1816-10G>T single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001517976]|not provided [RCV001551059]|not specified [RCV001658210] Chr2:201746758 [GRCh38]
Chr2:202611481 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.2004A>G (p.Gly668=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001504438] Chr2:201744424 [GRCh38]
Chr2:202609147 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2979+8del deletion Infantile-onset ascending hereditary spastic paralysis [RCV001393119] Chr2:201727204 [GRCh38]
Chr2:202591927 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2745G>A (p.Leu915=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001493392] Chr2:201728608 [GRCh38]
Chr2:202593331 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3624+1G>A single nucleotide variant Amyotrophic lateral sclerosis [RCV003106223]|Infantile-onset ascending hereditary spastic paralysis [RCV001377565] Chr2:201723329 [GRCh38]
Chr2:202588052 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.4194C>T (p.Tyr1398=) single nucleotide variant Hereditary spastic paraplegia [RCV001847264]|Infantile-onset ascending hereditary spastic paralysis [RCV001409881] Chr2:201709967 [GRCh38]
Chr2:202574690 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.4164G>A (p.Glu1388=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001400075] Chr2:201709997 [GRCh38]
Chr2:202574720 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4365T>G (p.Thr1455=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001428198] Chr2:201707907 [GRCh38]
Chr2:202572630 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1782C>T (p.Ser594=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001436239] Chr2:201749745 [GRCh38]
Chr2:202614468 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3248+1G>T single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001379324] Chr2:201726483 [GRCh38]
Chr2:202591206 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.2842-2A>G single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001379573] Chr2:201727777 [GRCh38]
Chr2:202592500 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.2595T>C (p.Tyr865=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001408731] Chr2:201729169 [GRCh38]
Chr2:202593892 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4936-120G>T single nucleotide variant not provided [RCV001535200] Chr2:201702009 [GRCh38]
Chr2:202566732 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3348-1G>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001379989] Chr2:201724460 [GRCh38]
Chr2:202589183 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.4005-75G>A single nucleotide variant not provided [RCV001565024] Chr2:201711183 [GRCh38]
Chr2:202575906 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3447T>C (p.Ser1149=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001442904] Chr2:201724360 [GRCh38]
Chr2:202589083 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2417+10C>T single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001432228] Chr2:201738660 [GRCh38]
Chr2:202603383 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2913-7G>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001406796] Chr2:201727285 [GRCh38]
Chr2:202592008 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3347+8T>C single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001482512] Chr2:201725348 [GRCh38]
Chr2:202590071 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1998+305A>G single nucleotide variant not provided [RCV001681782] Chr2:201746261 [GRCh38]
Chr2:202610984 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.2350G>A (p.Glu784Lys) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001457686] Chr2:201741675 [GRCh38]
Chr2:202606398 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4403+246A>G single nucleotide variant not provided [RCV001667054] Chr2:201707623 [GRCh38]
Chr2:202572346 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.2581-291T>C single nucleotide variant not provided [RCV001680015] Chr2:201729474 [GRCh38]
Chr2:202594197 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.4005-76T>C single nucleotide variant not provided [RCV001717220] Chr2:201711184 [GRCh38]
Chr2:202575907 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.4936-129A>G single nucleotide variant not provided [RCV001717224] Chr2:201702018 [GRCh38]
Chr2:202566741 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.2912+9G>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001470072] Chr2:201727696 [GRCh38]
Chr2:202592419 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.21-205G>A single nucleotide variant not provided [RCV001687685] Chr2:201767588 [GRCh38]
Chr2:202632311 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.4281-211G>A single nucleotide variant not provided [RCV001715824] Chr2:201708202 [GRCh38]
Chr2:202572925 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.4281-92G>C single nucleotide variant not provided [RCV001714461] Chr2:201708083 [GRCh38]
Chr2:202572806 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.4368G>A (p.Gly1456=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001477717] Chr2:201707904 [GRCh38]
Chr2:202572627 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2170+104G>T single nucleotide variant not provided [RCV001708820] Chr2:201744154 [GRCh38]
Chr2:202608877 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.3513-86G>A single nucleotide variant not provided [RCV001619164] Chr2:201723527 [GRCh38]
Chr2:202588250 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.267T>C (p.Val89=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001415726] Chr2:201761727 [GRCh38]
Chr2:202626450 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1728G>T (p.Ala576=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001419806] Chr2:201753155 [GRCh38]
Chr2:202617878 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2520A>C (p.Pro840=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001418276] Chr2:201733336 [GRCh38]
Chr2:202598059 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4004+1G>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001379780] Chr2:201715671 [GRCh38]
Chr2:202580394 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.4764G>C (p.Ala1588=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001489572] Chr2:201704528 [GRCh38]
Chr2:202569251 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4626+10A>G single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001450586] Chr2:201705406 [GRCh38]
Chr2:202570129 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4567C>T (p.Leu1523Phe) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV003108836] Chr2:201706859 [GRCh38]
Chr2:202571582 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4270C>T (p.Gln1424Ter) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002259411]|Juvenile amyotrophic lateral sclerosis [RCV002227850] Chr2:201709891 [GRCh38]
Chr2:202574614 [GRCh37]
Chr2:2q33.1
pathogenic
NC_000002.11:g.(?_202501451)_(202633608_?)del deletion Infantile-onset ascending hereditary spastic paralysis [RCV003105409]|Joubert syndrome 14 [RCV003122416] Chr2:202501451..202633608 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.2580+2T>C single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV003225989]|Infantile-onset ascending hereditary spastic paralysis [RCV002259429] Chr2:201733274 [GRCh38]
Chr2:202597997 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.326A>G (p.Asn109Ser) single nucleotide variant Inborn genetic diseases [RCV004641678]|Infantile-onset ascending hereditary spastic paralysis [RCV002032704]|not provided [RCV001730191] Chr2:201761668 [GRCh38]
Chr2:202626391 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.-60-2A>G single nucleotide variant not provided [RCV001730210] Chr2:201768947 [GRCh38]
Chr2:202633670 [GRCh37]
Chr2:2q33.1
pathogenic|likely pathogenic
NM_020919.4(ALS2):c.3513-2del deletion not provided [RCV001783465] Chr2:201723443 [GRCh38]
Chr2:202588166 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.2417+1G>C single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002259430] Chr2:201738669 [GRCh38]
Chr2:202603392 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.3958A>G (p.Asn1320Asp) single nucleotide variant not specified [RCV002259434] Chr2:201715718 [GRCh38]
Chr2:202580441 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3517delG deletion Infantile-onset ascending hereditary spastic paralysis [RCV002259433] Chr2:201723437 [GRCh38]
Chr2:202588160 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.1964G>C (p.Gly655Ala) single nucleotide variant not provided [RCV001772647] Chr2:201746600 [GRCh38]
Chr2:202611323 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4303G>A (p.Glu1435Lys) single nucleotide variant not provided [RCV001774124] Chr2:201707969 [GRCh38]
Chr2:202572692 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2423T>G (p.Phe808Cys) single nucleotide variant not provided [RCV001765790] Chr2:201733433 [GRCh38]
Chr2:202598156 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4228G>C (p.Glu1410Gln) single nucleotide variant not provided [RCV001765791] Chr2:201709933 [GRCh38]
Chr2:202574656 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.878C>G (p.Thr293Ser) single nucleotide variant Inborn genetic diseases [RCV003264082]|not provided [RCV001756935] Chr2:201761116 [GRCh38]
Chr2:202625839 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4642A>G (p.Lys1548Glu) single nucleotide variant not provided [RCV001758830] Chr2:201705185 [GRCh38]
Chr2:202569908 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3223A>G (p.Met1075Val) single nucleotide variant Inborn genetic diseases [RCV002542360]|Infantile-onset ascending hereditary spastic paralysis [RCV001885254]|not provided [RCV001806655] Chr2:201726509 [GRCh38]
Chr2:202591232 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4069G>A (p.Val1357Ile) single nucleotide variant ALS2-related disorder [RCV004734274]|not provided [RCV001797211] Chr2:201711044 [GRCh38]
Chr2:202575767 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1156A>G (p.Thr386Ala) single nucleotide variant not provided [RCV001760591] Chr2:201757717 [GRCh38]
Chr2:202622440 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.691C>T (p.Arg231Ter) single nucleotide variant Abnormal central motor function [RCV001814425] Chr2:201761303 [GRCh38]
Chr2:202626026 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.1640+1G>A single nucleotide variant Abnormal central motor function [RCV001814407]|Infantile-onset ascending hereditary spastic paralysis [RCV002471117]|not provided [RCV002292646] Chr2:201754502 [GRCh38]
Chr2:202619225 [GRCh37]
Chr2:2q33.1
pathogenic|likely pathogenic
NM_020919.4(ALS2):c.1649C>T (p.Pro550Leu) single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV001824228] Chr2:201753234 [GRCh38]
Chr2:202617957 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.2651G>A (p.Arg884Lys) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002008739] Chr2:201729113 [GRCh38]
Chr2:202593836 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1139A>C (p.Asn380Thr) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001926911] Chr2:201757734 [GRCh38]
Chr2:202622457 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2386G>C (p.Gly796Arg) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001874868] Chr2:201738701 [GRCh38]
Chr2:202603424 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2639T>C (p.Leu880Pro) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002045698] Chr2:201729125 [GRCh38]
Chr2:202593848 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.215G>A (p.Ser72Asn) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001950682] Chr2:201761779 [GRCh38]
Chr2:202626502 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3085C>T (p.Pro1029Ser) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001950588] Chr2:201726761 [GRCh38]
Chr2:202591484 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3395G>A (p.Arg1132His) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001912781] Chr2:201724412 [GRCh38]
Chr2:202589135 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1008A>G (p.Ile336Met) single nucleotide variant Inborn genetic diseases [RCV002548697]|Infantile-onset ascending hereditary spastic paralysis [RCV001872092] Chr2:201760986 [GRCh38]
Chr2:202625709 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3624+3G>C single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001949099] Chr2:201723327 [GRCh38]
Chr2:202588050 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4910A>G (p.Gln1637Arg) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002044987] Chr2:201704147 [GRCh38]
Chr2:202568870 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2072A>C (p.Tyr691Ser) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001895313] Chr2:201744356 [GRCh38]
Chr2:202609079 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4195G>A (p.Val1399Met) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001890474]|not provided [RCV004793567] Chr2:201709966 [GRCh38]
Chr2:202574689 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4820A>T (p.Tyr1607Phe) single nucleotide variant Hereditary spastic paraplegia [RCV001848506]|Infantile-onset ascending hereditary spastic paralysis [RCV002543408] Chr2:201704472 [GRCh38]
Chr2:202569195 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1403T>C (p.Val468Ala) single nucleotide variant Hereditary spastic paraplegia [RCV001848413] Chr2:201757470 [GRCh38]
Chr2:202622193 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.155A>G (p.His52Arg) single nucleotide variant Hereditary spastic paraplegia [RCV001848420] Chr2:201767249 [GRCh38]
Chr2:202631972 [GRCh37]
Chr2:2q33.1
uncertain significance
NC_000002.11:g.(?_202566574)_(203424669_?)del deletion Primary pulmonary hypertension [RCV001946571] Chr2:202566574..203424669 [GRCh37]
Chr2:2q33.1-33.2
pathogenic
NM_020919.4(ALS2):c.3617A>C (p.Lys1206Thr) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001969723] Chr2:201723337 [GRCh38]
Chr2:202588060 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.853A>G (p.Arg285Gly) single nucleotide variant Hereditary spastic paraplegia [RCV001848521]|Infantile-onset ascending hereditary spastic paralysis [RCV002034765] Chr2:201761141 [GRCh38]
Chr2:202625864 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4214G>A (p.Arg1405His) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001911441] Chr2:201709947 [GRCh38]
Chr2:202574670 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1048C>T (p.Arg350Trp) single nucleotide variant Hereditary spastic paraplegia [RCV001848394]|Infantile-onset ascending hereditary spastic paralysis [RCV002034756]|not provided [RCV003438880] Chr2:201760946 [GRCh38]
Chr2:202625669 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
NM_020919.4(ALS2):c.2479A>G (p.Thr827Ala) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002020613] Chr2:201733377 [GRCh38]
Chr2:202598100 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1483C>G (p.Leu495Val) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001871145] Chr2:201754660 [GRCh38]
Chr2:202619383 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4382G>A (p.Arg1461Gln) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001893196]|not provided [RCV003136264] Chr2:201707890 [GRCh38]
Chr2:202572613 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.77G>C (p.Gly26Ala) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002002774] Chr2:201767327 [GRCh38]
Chr2:202632050 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.62A>G (p.His21Arg) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002022630] Chr2:201767342 [GRCh38]
Chr2:202632065 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.256A>G (p.Asn86Asp) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002039509] Chr2:201761738 [GRCh38]
Chr2:202626461 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2282A>G (p.His761Arg) single nucleotide variant Hereditary spastic paraplegia [RCV001848444]|Infantile-onset ascending hereditary spastic paralysis [RCV002034761] Chr2:201741743 [GRCh38]
Chr2:202606466 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3047C>G (p.Pro1016Arg) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001872892] Chr2:201726799 [GRCh38]
Chr2:202591522 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.499A>G (p.Ile167Val) single nucleotide variant Inborn genetic diseases [RCV004044177]|Infantile-onset ascending hereditary spastic paralysis [RCV001926384] Chr2:201761495 [GRCh38]
Chr2:202626218 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3904C>T (p.Arg1302Cys) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002005791] Chr2:201715772 [GRCh38]
Chr2:202580495 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2779C>A (p.His927Asn) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001892983] Chr2:201728574 [GRCh38]
Chr2:202593297 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1145_1150del (p.His382_Ser383del) deletion Hereditary spastic paraplegia [RCV001848403] Chr2:201757723..201757728 [GRCh38]
Chr2:202622446..202622451 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1359G>C (p.Gln453His) single nucleotide variant Hereditary spastic paraplegia [RCV001848407] Chr2:201757514 [GRCh38]
Chr2:202622237 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3381T>A (p.Phe1127Leu) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001895364] Chr2:201724426 [GRCh38]
Chr2:202589149 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2583A>G (p.Ala861=) single nucleotide variant Hereditary spastic paraplegia [RCV001848452]|Infantile-onset ascending hereditary spastic paralysis [RCV003611563] Chr2:201729181 [GRCh38]
Chr2:202593904 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.2735G>A (p.Arg912His) single nucleotide variant Hereditary spastic paraplegia [RCV001848457] Chr2:201728618 [GRCh38]
Chr2:202593341 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3703-7T>C single nucleotide variant Hereditary spastic paraplegia [RCV001848479] Chr2:201718217 [GRCh38]
Chr2:202582940 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4878T>A (p.Asp1626Glu) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001986732] Chr2:201704179 [GRCh38]
Chr2:202568902 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3249G>A (p.Gly1083=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001891879] Chr2:201725454 [GRCh38]
Chr2:202590177 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1241G>A (p.Gly414Asp) single nucleotide variant Inborn genetic diseases [RCV004043033]|Infantile-onset ascending hereditary spastic paralysis [RCV001965180] Chr2:201757632 [GRCh38]
Chr2:202622355 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2024C>G (p.Ala675Gly) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001948229] Chr2:201744404 [GRCh38]
Chr2:202609127 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3513-7T>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001912465] Chr2:201723448 [GRCh38]
Chr2:202588171 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4317A>C (p.Thr1439=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002007046] Chr2:201707955 [GRCh38]
Chr2:202572678 [GRCh37]
Chr2:2q33.1
likely benign
GRCh37/hg19 2q33.1-34(chr2:200851079-209054267) copy number loss not specified [RCV002053275] Chr2:200851079..209054267 [GRCh37]
Chr2:2q33.1-34
pathogenic
NM_020919.4(ALS2):c.3989G>A (p.Arg1330His) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001986769] Chr2:201715687 [GRCh38]
Chr2:202580410 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.226G>A (p.Glu76Lys) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001969691]|not provided [RCV002473342] Chr2:201761768 [GRCh38]
Chr2:202626491 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2077G>A (p.Ala693Thr) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002043813] Chr2:201744351 [GRCh38]
Chr2:202609074 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1855A>G (p.Arg619Gly) single nucleotide variant Hereditary spastic paraplegia [RCV001848437]|Infantile-onset ascending hereditary spastic paralysis [RCV002543401] Chr2:201746709 [GRCh38]
Chr2:202611432 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.802G>A (p.Ala268Thr) single nucleotide variant Hereditary spastic paraplegia [RCV001848518] Chr2:201761192 [GRCh38]
Chr2:202625915 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3624+6T>C single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002003958] Chr2:201723324 [GRCh38]
Chr2:202588047 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4692A>G (p.Thr1564=) single nucleotide variant Hereditary spastic paraplegia [RCV001848495] Chr2:201704600 [GRCh38]
Chr2:202569323 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4831C>T (p.Arg1611Trp) single nucleotide variant Hereditary spastic paraplegia [RCV001848510] Chr2:201704461 [GRCh38]
Chr2:202569184 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3985C>T (p.Arg1329Trp) single nucleotide variant Inborn genetic diseases [RCV004045986]|Infantile-onset ascending hereditary spastic paralysis [RCV002015677] Chr2:201715691 [GRCh38]
Chr2:202580414 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.864del (p.Val289fs) deletion Infantile-onset ascending hereditary spastic paralysis [RCV001942307] Chr2:201761130 [GRCh38]
Chr2:202625853 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.3836+3G>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002000409] Chr2:201718074 [GRCh38]
Chr2:202582797 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1256A>T (p.Lys419Met) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001944573] Chr2:201757617 [GRCh38]
Chr2:202622340 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.35A>G (p.Glu12Gly) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001954535] Chr2:201767369 [GRCh38]
Chr2:202632092 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.815C>T (p.Ala272Val) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002000460] Chr2:201761179 [GRCh38]
Chr2:202625902 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3653A>G (p.Asp1218Gly) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002038577] Chr2:201723092 [GRCh38]
Chr2:202587815 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1042T>C (p.Tyr348His) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001905991] Chr2:201760952 [GRCh38]
Chr2:202625675 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3703-2A>G single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001995649] Chr2:201718212 [GRCh38]
Chr2:202582935 [GRCh37]
Chr2:2q33.1
pathogenic|likely pathogenic
NM_020919.4(ALS2):c.749T>C (p.Ile250Thr) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001974325] Chr2:201761245 [GRCh38]
Chr2:202625968 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.334G>A (p.Ala112Thr) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001903904] Chr2:201761660 [GRCh38]
Chr2:202626383 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1171G>T (p.Ala391Ser) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001888056] Chr2:201757702 [GRCh38]
Chr2:202622425 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4626+6G>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001904025] Chr2:201705410 [GRCh38]
Chr2:202570133 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.162TCT[1] (p.Leu56del) microsatellite Infantile-onset ascending hereditary spastic paralysis [RCV001886042] Chr2:201767237..201767239 [GRCh38]
Chr2:202631960..202631962 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3128G>A (p.Arg1043His) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001979398] Chr2:201726718 [GRCh38]
Chr2:202591441 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.116G>A (p.Gly39Glu) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002051336] Chr2:201767288 [GRCh38]
Chr2:202632011 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1850C>T (p.Ala617Val) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001888269] Chr2:201746714 [GRCh38]
Chr2:202611437 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.514T>G (p.Trp172Gly) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002009867] Chr2:201761480 [GRCh38]
Chr2:202626203 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4581-3T>C single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002038349] Chr2:201705464 [GRCh38]
Chr2:202570187 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3837-15A>G single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001925961] Chr2:201715854 [GRCh38]
Chr2:202580577 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.3986G>A (p.Arg1329Gln) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001992287] Chr2:201715690 [GRCh38]
Chr2:202580413 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1471+3A>G single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001993550] Chr2:201757399 [GRCh38]
Chr2:202622122 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3094C>T (p.Arg1032Cys) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001973936] Chr2:201726752 [GRCh38]
Chr2:202591475 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3442_3444del (p.Pro1148del) deletion Infantile-onset ascending hereditary spastic paralysis [RCV001877708] Chr2:201724363..201724365 [GRCh38]
Chr2:202589086..202589088 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2111G>A (p.Arg704Gln) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001996236] Chr2:201744317 [GRCh38]
Chr2:202609040 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1265T>C (p.Met422Thr) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001974475] Chr2:201757608 [GRCh38]
Chr2:202622331 [GRCh37]
Chr2:2q33.1
uncertain significance
NC_000002.11:g.(?_201943606)_(204824322_?)del deletion Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001950956]|Autoimmune lymphoproliferative syndrome type 2B [RCV001950955]|Immunodeficiency, common variable, 1 [RCV003120780] Chr2:201943606..204824322 [GRCh37]
Chr2:2q33.1-33.2
pathogenic
NM_020919.4(ALS2):c.2302A>G (p.Ser768Gly) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001919974] Chr2:201741723 [GRCh38]
Chr2:202606446 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.236C>G (p.Pro79Arg) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002048753] Chr2:201761758 [GRCh38]
Chr2:202626481 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4037C>G (p.Thr1346Arg) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001898688] Chr2:201711076 [GRCh38]
Chr2:202575799 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1832G>C (p.Gly611Ala) single nucleotide variant Inborn genetic diseases [RCV002553553]|Infantile-onset ascending hereditary spastic paralysis [RCV001917467] Chr2:201746732 [GRCh38]
Chr2:202611455 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.3437C>T (p.Ser1146Phe) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001898907] Chr2:201724370 [GRCh38]
Chr2:202589093 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3053G>A (p.Gly1018Glu) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001990990] Chr2:201726793 [GRCh38]
Chr2:202591516 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3145T>G (p.Tyr1049Asp) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001882264] Chr2:201726701 [GRCh38]
Chr2:202591424 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3656C>A (p.Thr1219Asn) single nucleotide variant Inborn genetic diseases [RCV002571250]|Infantile-onset ascending hereditary spastic paralysis [RCV001972928] Chr2:201723089 [GRCh38]
Chr2:202587812 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2756G>C (p.Ser919Thr) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001996522] Chr2:201728597 [GRCh38]
Chr2:202593320 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2978A>C (p.Lys993Thr) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001957839] Chr2:201727213 [GRCh38]
Chr2:202591936 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.878C>T (p.Thr293Ile) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001925770] Chr2:201761116 [GRCh38]
Chr2:202625839 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1553A>G (p.Asp518Gly) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002031026] Chr2:201754590 [GRCh38]
Chr2:202619313 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3584G>T (p.Gly1195Val) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002018400] Chr2:201723370 [GRCh38]
Chr2:202588093 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4213C>T (p.Arg1405Cys) single nucleotide variant Inborn genetic diseases [RCV002548823]|Infantile-onset ascending hereditary spastic paralysis [RCV002048524] Chr2:201709948 [GRCh38]
Chr2:202574671 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4368del (p.Lys1457fs) deletion Infantile-onset ascending hereditary spastic paralysis [RCV001960666] Chr2:201707904 [GRCh38]
Chr2:202572627 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.2630G>A (p.Cys877Tyr) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001866773] Chr2:201729134 [GRCh38]
Chr2:202593857 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4636A>G (p.Thr1546Ala) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001901330] Chr2:201705191 [GRCh38]
Chr2:202569914 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.111C>G (p.Gly37=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001982155] Chr2:201767293 [GRCh38]
Chr2:202632016 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4281G>T (p.Arg1427Ser) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001926088] Chr2:201707991 [GRCh38]
Chr2:202572714 [GRCh37]
Chr2:2q33.1
uncertain significance
NC_000002.11:g.(?_202587756)_(202589192_?)del deletion Infantile-onset ascending hereditary spastic paralysis [RCV001951369] Chr2:202587756..202589192 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.2912+16C>G single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001939505] Chr2:201727689 [GRCh38]
Chr2:202592412 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2417+17C>T single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001956565] Chr2:201738653 [GRCh38]
Chr2:202603376 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4399C>G (p.Pro1467Ala) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001900553] Chr2:201707873 [GRCh38]
Chr2:202572596 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4403+15del deletion Infantile-onset ascending hereditary spastic paralysis [RCV001952712] Chr2:201707854 [GRCh38]
Chr2:202572577 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.2171-3T>C single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001979805] Chr2:201741857 [GRCh38]
Chr2:202606580 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2560C>G (p.Leu854Val) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002019243] Chr2:201733296 [GRCh38]
Chr2:202598019 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.690A>G (p.Glu230=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001960757] Chr2:201761304 [GRCh38]
Chr2:202626027 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4507A>G (p.Ile1503Val) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001906072] Chr2:201706919 [GRCh38]
Chr2:202571642 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.272A>G (p.Gln91Arg) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001906861] Chr2:201761722 [GRCh38]
Chr2:202626445 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.169A>G (p.Thr57Ala) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001972991] Chr2:201767235 [GRCh38]
Chr2:202631958 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1531C>A (p.Pro511Thr) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001901563] Chr2:201754612 [GRCh38]
Chr2:202619335 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1114-1G>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002014253] Chr2:201757760 [GRCh38]
Chr2:202622483 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.979A>G (p.Thr327Ala) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001935075] Chr2:201761015 [GRCh38]
Chr2:202625738 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4528C>T (p.Arg1510Ter) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001992862] Chr2:201706898 [GRCh38]
Chr2:202571621 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.1622del (p.His541fs) deletion Infantile-onset ascending hereditary spastic paralysis [RCV001955652] Chr2:201754521 [GRCh38]
Chr2:202619244 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.1249T>C (p.Ser417Pro) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001952453] Chr2:201757624 [GRCh38]
Chr2:202622347 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.71A>G (p.Gln24Arg) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001958373] Chr2:201767333 [GRCh38]
Chr2:202632056 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3015T>G (p.Asp1005Glu) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001866718] Chr2:201726831 [GRCh38]
Chr2:202591554 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2170+15C>T single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002126353] Chr2:201744243 [GRCh38]
Chr2:202608966 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4280+15C>T single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002125342] Chr2:201709866 [GRCh38]
Chr2:202574589 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1290T>C (p.Cys430=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002108211]|not provided [RCV004711810] Chr2:201757583 [GRCh38]
Chr2:202622306 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4689-10T>C single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002110451] Chr2:201704613 [GRCh38]
Chr2:202569336 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1472-17G>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002110479] Chr2:201754688 [GRCh38]
Chr2:202619411 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3711G>A (p.Leu1237=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002087319] Chr2:201718202 [GRCh38]
Chr2:202582925 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4938A>G (p.Ala1646=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002206929] Chr2:201701887 [GRCh38]
Chr2:202566610 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2170+16del deletion Infantile-onset ascending hereditary spastic paralysis [RCV002088907] Chr2:201744242 [GRCh38]
Chr2:202608965 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.2171-25CAT[3] microsatellite Infantile-onset ascending hereditary spastic paralysis [RCV002206523] Chr2:201741868..201741870 [GRCh38]
Chr2:202606591..202606593 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4838+19del deletion Infantile-onset ascending hereditary spastic paralysis [RCV002125316] Chr2:201704435 [GRCh38]
Chr2:202569158 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2707dup (p.Met903fs) duplication Amyotrophic lateral sclerosis type 2, juvenile [RCV002223745] Chr2:201729056..201729057 [GRCh38]
Chr2:202593779..202593780 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.2171-9T>C single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002110040] Chr2:201741863 [GRCh38]
Chr2:202606586 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1611G>A (p.Gly537=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002208613] Chr2:201754532 [GRCh38]
Chr2:202619255 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4881A>G (p.Leu1627=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002167994] Chr2:201704176 [GRCh38]
Chr2:202568899 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.176-19T>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002127308] Chr2:201761837 [GRCh38]
Chr2:202626560 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.4223T>A (p.Leu1408Ter) single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV002223744] Chr2:201709938 [GRCh38]
Chr2:202574661 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.2171-13T>C single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002111742] Chr2:201741867 [GRCh38]
Chr2:202606590 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.960T>C (p.Ser320=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002207136] Chr2:201761034 [GRCh38]
Chr2:202625757 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2526A>G (p.Arg842=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002071813] Chr2:201733330 [GRCh38]
Chr2:202598053 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4404-17A>G single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002111335] Chr2:201707039 [GRCh38]
Chr2:202571762 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4580+17C>T single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002168656] Chr2:201706829 [GRCh38]
Chr2:202571552 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.405T>C (p.Asn135=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002079249] Chr2:201761589 [GRCh38]
Chr2:202626312 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.176-8dup duplication Infantile-onset ascending hereditary spastic paralysis [RCV002113353] Chr2:201761825..201761826 [GRCh38]
Chr2:202626548..202626549 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2170+11A>G single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002149503] Chr2:201744247 [GRCh38]
Chr2:202608970 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4404-18C>T single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002188339] Chr2:201707040 [GRCh38]
Chr2:202571763 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.2170+19T>C single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV002500434]|Infantile-onset ascending hereditary spastic paralysis [RCV002208091] Chr2:201744239 [GRCh38]
Chr2:202608962 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1816-19T>C single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002079028] Chr2:201746767 [GRCh38]
Chr2:202611490 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3267C>T (p.Ile1089=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002130883] Chr2:201725436 [GRCh38]
Chr2:202590159 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2980-18G>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002114068]|not provided [RCV004711847] Chr2:201726884 [GRCh38]
Chr2:202591607 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4581-16A>G single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002078593] Chr2:201705477 [GRCh38]
Chr2:202570200 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2713-13T>C single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002173388] Chr2:201728653 [GRCh38]
Chr2:202593376 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.18A>G (p.Arg6=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002210632] Chr2:201768868 [GRCh38]
Chr2:202633591 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1738-6dup duplication Infantile-onset ascending hereditary spastic paralysis [RCV002132441] Chr2:201749794..201749795 [GRCh38]
Chr2:202614517..202614518 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.285T>G (p.Thr95=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002115500] Chr2:201761709 [GRCh38]
Chr2:202626432 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4332T>A (p.Ala1444=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002173347] Chr2:201707940 [GRCh38]
Chr2:202572663 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.176-10dup duplication Infantile-onset ascending hereditary spastic paralysis [RCV002195350] Chr2:201761827..201761828 [GRCh38]
Chr2:202626550..202626551 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.3512+13_3512+15del deletion Infantile-onset ascending hereditary spastic paralysis [RCV002084720] Chr2:201724280..201724282 [GRCh38]
Chr2:202589003..202589005 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1650G>A (p.Pro550=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002078188] Chr2:201753233 [GRCh38]
Chr2:202617956 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1641-16T>C single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002115229] Chr2:201753258 [GRCh38]
Chr2:202617981 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1653G>A (p.Leu551=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002169144] Chr2:201753230 [GRCh38]
Chr2:202617953 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1032A>G (p.Ala344=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002095830]|not specified [RCV002222755] Chr2:201760962 [GRCh38]
Chr2:202625685 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4280+16A>G single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002173732] Chr2:201709865 [GRCh38]
Chr2:202574588 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.1472-18C>T single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002080271] Chr2:201754689 [GRCh38]
Chr2:202619412 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.4004+18C>T single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002124498] Chr2:201715654 [GRCh38]
Chr2:202580377 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.246C>T (p.Pro82=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002191971] Chr2:201761748 [GRCh38]
Chr2:202626471 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2979+13T>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002213523] Chr2:201727199 [GRCh38]
Chr2:202591922 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.660C>G (p.Leu220=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002127189] Chr2:201761334 [GRCh38]
Chr2:202626057 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1509A>G (p.Lys503=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002092242] Chr2:201754634 [GRCh38]
Chr2:202619357 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3703-6A>T single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002113838] Chr2:201718216 [GRCh38]
Chr2:202582939 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4688+15G>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002095157] Chr2:201705124 [GRCh38]
Chr2:202569847 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3564T>C (p.Gly1188=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002213678] Chr2:201723390 [GRCh38]
Chr2:202588113 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4004+11A>C single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002168390] Chr2:201715661 [GRCh38]
Chr2:202580384 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3894C>T (p.Asp1298=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002138655] Chr2:201715782 [GRCh38]
Chr2:202580505 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2331C>G (p.Leu777=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002101748] Chr2:201741694 [GRCh38]
Chr2:202606417 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3204T>C (p.Asp1068=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002199797] Chr2:201726528 [GRCh38]
Chr2:202591251 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4403+17G>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002102502] Chr2:201707852 [GRCh38]
Chr2:202572575 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4123-20T>C single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002100872] Chr2:201710058 [GRCh38]
Chr2:202574781 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.3702+20T>G single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002219349] Chr2:201723023 [GRCh38]
Chr2:202587746 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.138A>G (p.Ala46=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002103033] Chr2:201767266 [GRCh38]
Chr2:202631989 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4935+10G>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002102024] Chr2:201704112 [GRCh38]
Chr2:202568835 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1998+11A>G single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002216761] Chr2:201746555 [GRCh38]
Chr2:202611278 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1446C>T (p.Leu482=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002164226] Chr2:201757427 [GRCh38]
Chr2:202622150 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1114-19T>G single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002081202] Chr2:201757778 [GRCh38]
Chr2:202622501 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.945C>T (p.Ser315=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002103258] Chr2:201761049 [GRCh38]
Chr2:202625772 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3702+17_3702+20del microsatellite Infantile-onset ascending hereditary spastic paralysis [RCV002098106] Chr2:201723023..201723026 [GRCh38]
Chr2:202587746..202587749 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1479C>T (p.Pro493=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002100071] Chr2:201754664 [GRCh38]
Chr2:202619387 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1158C>A (p.Thr386=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002122928] Chr2:201757715 [GRCh38]
Chr2:202622438 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.4838+13T>C single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002163144] Chr2:201704441 [GRCh38]
Chr2:202569164 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2418-14del deletion Infantile-onset ascending hereditary spastic paralysis [RCV002117861] Chr2:201733452 [GRCh38]
Chr2:202598175 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.1472-20del deletion Infantile-onset ascending hereditary spastic paralysis [RCV002117862] Chr2:201754691 [GRCh38]
Chr2:202619414 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.3625-5T>C single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002100204] Chr2:201723125 [GRCh38]
Chr2:202587848 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3699A>G (p.Gly1233=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002158134] Chr2:201723046 [GRCh38]
Chr2:202587769 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2604G>A (p.Leu868=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002158708] Chr2:201729160 [GRCh38]
Chr2:202593883 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4131C>T (p.Asp1377=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002124013] Chr2:201710030 [GRCh38]
Chr2:202574753 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2712+8A>C single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002124028] Chr2:201729044 [GRCh38]
Chr2:202593767 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.175+18G>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002143740] Chr2:201767211 [GRCh38]
Chr2:202631934 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2842-17C>T single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002202794] Chr2:201727792 [GRCh38]
Chr2:202592515 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1114-17A>G single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002119555] Chr2:201757776 [GRCh38]
Chr2:202622499 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4725C>T (p.Ile1575=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002200021] Chr2:201704567 [GRCh38]
Chr2:202569290 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3836+14G>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002141397] Chr2:201718063 [GRCh38]
Chr2:202582786 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3836+18A>C single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002123450] Chr2:201718059 [GRCh38]
Chr2:202582782 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.300C>T (p.Ser100=) single nucleotide variant ALS2-related disorder [RCV004543814]|Infantile-onset ascending hereditary spastic paralysis [RCV002120330] Chr2:201761694 [GRCh38]
Chr2:202626417 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.2980-8G>C single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002198799] Chr2:201726874 [GRCh38]
Chr2:202591597 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2712+16T>G single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002178394] Chr2:201729036 [GRCh38]
Chr2:202593759 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.333C>T (p.Val111=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002119242] Chr2:201761661 [GRCh38]
Chr2:202626384 [GRCh37]
Chr2:2q33.1
likely benign
NC_000002.11:g.(?_202571549)_(202571765_?)del deletion Infantile-onset ascending hereditary spastic paralysis [RCV003109777] Chr2:202571549..202571765 [GRCh37]
Chr2:2q33.1
uncertain significance
NC_000002.11:g.(?_202566574)_(202633608_?)dup duplication Infantile-onset ascending hereditary spastic paralysis [RCV003109778] Chr2:202566574..202633608 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.176-7C>T single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV003112396] Chr2:201761825 [GRCh38]
Chr2:202626548 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.2913-15T>C single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV003111898] Chr2:201727293 [GRCh38]
Chr2:202592016 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3808G>A (p.Glu1270Lys) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV003112612] Chr2:201718105 [GRCh38]
Chr2:202582828 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.653A>G (p.Gln218Arg) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV003118171] Chr2:201761341 [GRCh38]
Chr2:202626064 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4404-5T>C single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV003114889] Chr2:201707027 [GRCh38]
Chr2:202571750 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.144C>A (p.Leu48=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV003113415] Chr2:201767260 [GRCh38]
Chr2:202631983 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.92C>T (p.Thr31Ile) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV003115028] Chr2:201767312 [GRCh38]
Chr2:202632035 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.247A>G (p.Ile83Val) single nucleotide variant not provided [RCV004784751] Chr2:201761747 [GRCh38]
Chr2:202626470 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4584A>C (p.Lys1528Asn) single nucleotide variant not provided [RCV004786129] Chr2:201705458 [GRCh38]
Chr2:202570181 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2168dup (p.Leu723fs) duplication Amyotrophic lateral sclerosis type 2, juvenile [RCV003153174] Chr2:201744259..201744260 [GRCh38]
Chr2:202608982..202608983 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.1606G>A (p.Glu536Lys) single nucleotide variant not provided [RCV003152074] Chr2:201754537 [GRCh38]
Chr2:202619260 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3893del (p.Asp1298fs) deletion Amyotrophic lateral sclerosis type 2, juvenile [RCV003152844] Chr2:201715783 [GRCh38]
Chr2:202580506 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.158_160del (p.Gly53del) deletion Infantile-onset ascending hereditary spastic paralysis [RCV002259432] Chr2:201767244..201767246 [GRCh38]
Chr2:202631967..202631969 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.347G>A (p.Gly116Glu) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002259428] Chr2:201761647 [GRCh38]
Chr2:202626370 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.4206A>G (p.Gly1402=) single nucleotide variant not specified [RCV002259435] Chr2:201709955 [GRCh38]
Chr2:202574678 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.3099T>A (p.Ser1033Arg) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV003096305]|not provided [RCV002279113] Chr2:201726747 [GRCh38]
Chr2:202591470 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1049G>A (p.Arg350Gln) single nucleotide variant Inborn genetic diseases [RCV003101455]|Infantile-onset ascending hereditary spastic paralysis [RCV003101456]|not provided [RCV002261726] Chr2:201760945 [GRCh38]
Chr2:202625668 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.2929A>G (p.Thr977Ala) single nucleotide variant not provided [RCV002267550] Chr2:201727262 [GRCh38]
Chr2:202591985 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q33.1(chr2:201838259-202711243)x3 copy number gain CYSTIC HYGROMA, VSD [RCV002282736] Chr2:201838259..202711243 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1686C>G (p.Ile562Met) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002296884] Chr2:201753197 [GRCh38]
Chr2:202617920 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1 copy number loss not provided [RCV002473800] Chr2:189909904..209468383 [GRCh37]
Chr2:2q32.2-34
pathogenic
NM_020919.4(ALS2):c.176A>T (p.Asp59Val) single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV002471927] Chr2:201761818 [GRCh38]
Chr2:202626541 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1185GGT[1] (p.Val397del) microsatellite not provided [RCV002475044] Chr2:201757683..201757685 [GRCh38]
Chr2:202622406..202622408 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4368G>T (p.Gly1456=) single nucleotide variant not provided [RCV002475047] Chr2:201707904 [GRCh38]
Chr2:202572627 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3346A>G (p.Ser1116Gly) single nucleotide variant not provided [RCV002475043] Chr2:201725357 [GRCh38]
Chr2:202590080 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.183G>A (p.Glu61=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002858517] Chr2:201761811 [GRCh38]
Chr2:202626534 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3829A>T (p.Lys1277Ter) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002471488] Chr2:201718084 [GRCh38]
Chr2:202582807 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.1738-4A>G single nucleotide variant not provided [RCV002475042] Chr2:201749793 [GRCh38]
Chr2:202614516 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1737+7G>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV003108123]|not provided [RCV002475046] Chr2:201753139 [GRCh38]
Chr2:202617862 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.2700dup (p.Gly901fs) duplication ALS2-related disorder [RCV004584274] Chr2:201729063..201729064 [GRCh38]
Chr2:202593786..202593787 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.2539T>C (p.Tyr847His) single nucleotide variant ALS2-related motor neuron disease [RCV003994424]|Infantile-onset ascending hereditary spastic paralysis [RCV002299796] Chr2:201733317 [GRCh38]
Chr2:202598040 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1148G>T (p.Ser383Ile) single nucleotide variant Inborn genetic diseases [RCV002837099] Chr2:201757725 [GRCh38]
Chr2:202622448 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2647G>A (p.Gly883Ser) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002995050]|not provided [RCV004572503] Chr2:201729117 [GRCh38]
Chr2:202593840 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.882T>C (p.Leu294=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002837614] Chr2:201761112 [GRCh38]
Chr2:202625835 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4150G>A (p.Gly1384Ser) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002904238] Chr2:201710011 [GRCh38]
Chr2:202574734 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3816T>C (p.Asp1272=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV003011976] Chr2:201718097 [GRCh38]
Chr2:202582820 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4227G>T (p.Gln1409His) single nucleotide variant Inborn genetic diseases [RCV002840922] Chr2:201709934 [GRCh38]
Chr2:202574657 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1321_1327del (p.Ile441fs) deletion Amyotrophic lateral sclerosis type 2, juvenile [RCV002512482] Chr2:201757546..201757552 [GRCh38]
Chr2:202622269..202622275 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.4191A>T (p.Thr1397=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002751009] Chr2:201709970 [GRCh38]
Chr2:202574693 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3831A>G (p.Lys1277=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV002972479] Chr2:201718082 [GRCh38]
Chr2:202582805 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1250C>T (p.Ser417Leu) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV003014561] Chr2:201757623 [GRCh38]
Chr2:202622346 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4464G>A (p.Pro1488=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV003015406] Chr2:201706962 [GRCh38]
Chr2:202571685 [