MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Amyotrophic Lateral Sclerosis (D000690)
..Starting node ..Amyotrophic Lateral Sclerosis 2, Juvenile (C565957)
Child Nodes:
Sister Nodes:
..Amyotrophic lateral sclerosis 1 (C531617)
..Amyotrophic Lateral Sclerosis 10 (C567429)
..Amyotrophic Lateral Sclerosis 11 (C567244)
..AMYOTROPHIC LATERAL SCLEROSIS 12 (OMIM:613435)
..AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:613954)
..AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:300857)
..AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE (OMIM:614373)
..AMYOTROPHIC LATERAL SCLEROSIS 17 (OMIM:614696)
..AMYOTROPHIC LATERAL SCLEROSIS 18 (OMIM:614808)
..AMYOTROPHIC LATERAL SCLEROSIS 19 (OMIM:615515)
..Amyotrophic Lateral Sclerosis 2, Juvenile (C565957)
..AMYOTROPHIC LATERAL SCLEROSIS 20 (OMIM:615426)
..AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:616208)
..Amyotrophic Lateral Sclerosis 3 (C564688)
..Amyotrophic Lateral Sclerosis 4, Juvenile (C566550)
..Amyotrophic Lateral Sclerosis 5 (C566576)
..Amyotrophic Lateral Sclerosis 6, Autosomal Recessive (C567699)
..Amyotrophic Lateral Sclerosis 7 (C564300)
..Amyotrophic Lateral Sclerosis 8 (C563895)
..Amyotrophic Lateral Sclerosis 9 (C567499)
..Amyotrophic Lateral Sclerosis With Polyglucosan Bodies (C565955)
..Amyotrophic Lateral Sclerosis, Autosomal Recessive (C566290)
..Amyotrophic Lateral Sclerosis, Chmp2B-Related (C563708)
..Amyotrophic Lateral Sclerosis, Juvenile, with Dementia (C565956)
..Amyotrophic lateral sclerosis, type 6 (C538251)
..AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
..FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
..FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
..FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 (OMIM:616437)
..FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 (OMIM:616439)
..Frontotemporal Dementia With Motor Neuron Disease (C566288)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

618

Name:

Amyotrophic Lateral Sclerosis 2, Juvenile

Definition:

Alternative IDs:

OMIM:205100

ParentIDs:

MESH:D000690

TreeNumbers:

C10.228.854.139/C565957 |C10.574.562.250/C565957 |C10.574.950.050/C565957 |C10.668.467.250/C565957 |C18.452.845.800.050/C565957

Synonyms:

ALS2 |ALSJ |ALS, Juvenile

Slim Mappings:

Metabolic disease|Nervous system disease

Reference:

MedGen: C565957
MeSH: C565957
OMIM: 205100;
MSeqDR :
Genes: ALS2; AR;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002366	Abnormal lower motor neuron morphology
3	HP:0002127	Abnormal upper motor neuron morphology
4	HP:0007354	Amyotrophic lateral sclerosis
5	HP:0002425	Anarthria
6	HP:0003487	Babinski sign
7	HP:0000183	Difficulty in tongue movements
8	HP:0003693	Distal amyotrophy
9	HP:0002307	Drooling
10	HP:0002015	Dysphagia NAMDC: Dysphagia
11	HP:0001332	Dystonia NAMDC: Dystonia	HP:0040283
12	HP:0003444	EMG: chronic denervation signs
13	HP:0009130	Hand muscle atrophy
14	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
15	HP:0002061	Lower limb spasticity
16	HP:0003676	Progressive
17	HP:0002193	Pseudobulbar behavioral symptoms
18	HP:0003677	Slow progression
19	HP:0002464	Spastic dysarthria
20	HP:0002064	Spastic gait
21	HP:0001285	Spastic tetraparesis
22	HP:0002491	Spasticity of facial muscles
23	HP:0002501	Spasticity of pharyngeal muscles
24	HP:0006986	Upper limb spasticity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_020919.4(ALS2):c.*1538C>G	57679	ALS2	Uncertain significance	rs868173236	RCV000343965\|RCV000389144;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202565036	202565036	NC_000002.11:g.202565036G>C	ClinGen:CA10613844	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.*1533C>T	57679	ALS2	Uncertain significance	rs763133240	RCV001143215\|RCV001143216;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202565041	202565041	2:g.202565041G>A	-
NM_020919.4(ALS2):c.*1501A>G	57679	ALS2	Uncertain significance	rs1689312301	RCV001136645\|RCV001136646;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202565073	202565073	2:g.202565073T>C	-
NM_020919.4(ALS2):c.*1398C>A	57679	ALS2	Uncertain significance	rs759248084	RCV001136647\|RCV001136648;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202565176	202565176	2:g.202565176G>T	-
NM_020919.4(ALS2):c.*1328G>T	57679	ALS2	Uncertain significance	rs998591070	RCV001136650\|RCV001136649;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202565246	202565246	2:g.202565246C>A	-
NM_020919.4(ALS2):c.*1259A>G	57679	ALS2	Uncertain significance	rs888553434	RCV001136651\|RCV001136652;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202565315	202565315	2:g.202565315T>C	-
NM_020919.4(ALS2):c.*1249G>A	57679	ALS2	Uncertain significance	rs886055451	RCV000294824\|RCV000349057;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202565325	202565325	NC_000002.11:g.202565325C>T	ClinGen:CA10613853	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.*1219C>G	57679	ALS2	Uncertain significance	rs549727520	RCV001138894\|RCV001138895;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202565355	202565355	2:g.202565355G>C	-
NM_020919.4(ALS2):c.*1202C>T	57679	ALS2	Benign	rs41309068	RCV000300059\|RCV000400706;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202565372	202565372	NC_000002.11:g.202565372G>A	ClinGen:CA10612437	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.*1093C>T	57679	ALS2	Uncertain significance	rs983208576	RCV001138896\|RCV001138897;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202565481	202565481	2:g.202565481G>A	-
NM_020919.4(ALS2):c.*1079A>G	57679	ALS2	Uncertain significance	rs1689339340	RCV001141488\|RCV001141487;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202565495	202565495	2:g.202565495T>C	-
NM_020919.4(ALS2):c.*1004G>A	57679	ALS2	Benign	rs11300	RCV000305695\|RCV000360466;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202565570	202565570	NC_000002.11:g.202565570C>T	ClinGen:CA10612034	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.*942A>G	57679	ALS2	Likely benign	rs41309066	RCV000265872\|RCV000302547;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202565632	202565632	NC_000002.11:g.202565632T>C	ClinGen:CA10613544	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.*912A>G	57679	ALS2	Uncertain significance	rs572942753	RCV000271890\|RCV000366533;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202565662	202565662	NC_000002.11:g.202565662T>C	ClinGen:CA10613547	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.*893C>T	57679	ALS2	Benign	rs3219174	RCV000326977\|RCV000381762;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202565681	202565681	NC_000002.11:g.202565681G>A	ClinGen:CA10613861	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.*843G>A	57679	ALS2	Benign	rs41309062	RCV001143322\|RCV001143321;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202565731	202565731	2:g.202565731C>T	-
NM_020919.4(ALS2):c.*764A>G	57679	ALS2	Uncertain significance	rs74933581	RCV001143323\|RCV001143324;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202565810	202565810	2:g.202565810T>C	-
NM_020919.4(ALS2):c.*586G>A	57679	ALS2	Uncertain significance	rs905259072	RCV001143325\|RCV001143326;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202565988	202565988	2:g.202565988C>T	-
NM_020919.4(ALS2):c.*584G>A	57679	ALS2	Uncertain significance	rs577282089	RCV001136751\|RCV001136750;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202565990	202565990	2:g.202565990C>T	-
NM_020919.4(ALS2):c.*504G>A	57679	ALS2	Uncertain significance	rs183326117	RCV001136753\|RCV001136752;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202566070	202566070	2:g.202566070C>T	-
NM_020919.4(ALS2):c.*447G>A	57679	ALS2	Benign	rs3219173	RCV000277935\|RCV000333101;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202566127	202566127	NC_000002.11:g.202566127C>T	ClinGen:CA10612444	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.*426T>A	57679	ALS2	Uncertain significance	rs535733859	RCV001136754\|RCV001136755;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202566148	202566148	2:g.202566148A>T	-
NM_020919.4(ALS2):c.*379T>A	57679	ALS2	Likely benign	rs144613080	RCV000292159\|RCV000387560;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202566195	202566195	NC_000002.11:g.202566195A>T	ClinGen:CA10612035	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.*302A>G	57679	ALS2	Uncertain significance	rs1054683729	RCV001138987\|RCV001138988;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202566272	202566272	2:g.202566272T>C	-
NM_020919.4(ALS2):c.*163A>G	57679	ALS2	Likely benign	rs3219172	RCV000337836\|RCV000373830\|RCV001590975;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN517202	2	202566411	202566411	NC_000002.11:g.202566411T>C	ClinGen:CA10612445	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.*105A>C	57679	ALS2	Benign/Likely benign	rs141509107	RCV000280255\|RCV000335270\|RCV001582977;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MedGen:CN517202	2	202566469	202566469	NC_000002.11:g.202566469T>G	ClinGen:CA10612446	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.*15T>G	57679	ALS2	Uncertain significance	rs561331219	RCV000285997\|RCV000390506;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202566559	202566559	NC_000002.11:g.202566559A>C	ClinGen:CA2057437	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.4958G>A (p.Arg1653His)	57679	ALS2	Uncertain significance	rs190606035	RCV000340981\|RCV000392611\|RCV002521362;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202566590	202566590	NC_000002.11:g.202566590C>T	ClinGen:CA2057443	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.4957C>T (p.Arg1653Cys)	57679	ALS2	Uncertain significance	rs200416249	RCV001141602\|RCV001141603\|RCV001208992\|RCV002509617;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202	2	202566591	202566591	2:g.202566591G>A	-
NM_020919.4(ALS2):c.4808C>T (p.Pro1603Leu)	57679	ALS2	Likely pathogenic	rs1689580631	RCV001095480;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202569207	202569207	2:g.202569207G>A	-
NM_020919.4(ALS2):c.4764G>A (p.Ala1588=)	57679	ALS2	Benign/Likely benign	rs35110478	RCV000230667\|RCV000518222\|RCV001141604\|RCV001141605\|RCV001596997\|RCV001848006;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN169374\|MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202569251	202569251	NC_000002.11:g.202569251C>T	ClinGen:CA2057484	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.4753_4754dup (p.Ser1585fs)	57679	ALS2	Likely pathogenic	rs1689584119	RCV001250151;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202569260	202569261	2:g.202569260_202569261insCT	-
NM_020919.4(ALS2):c.4627-4G>A	57679	ALS2	Conflicting interpretations of pathogenicity	rs765859367	RCV001143424\|RCV001143425\|RCV002557055;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202569927	202569927	2:g.202569927C>T	-
NM_020919.4(ALS2):c.4627-69T>A	57679	ALS2	Benign	-1	RCV001549125\|RCV001549124\|RCV001549126\|RCV001713030;	N	MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202	2	202569992	202569992	202569992	-
NM_020919.4(ALS2):c.4626+1G>A	57679	ALS2	Pathogenic/Likely pathogenic	-1	RCV001543521\|RCV003128270;	N	MedGen:CN517202\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202570138	202570138	202570138	-
NM_020919.4(ALS2):c.4581-7A>G	57679	ALS2	Benign/Likely benign	rs114458388	RCV000310484\|RCV000365254\|RCV000861830\|RCV001660693\|RCV001571615;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN169374\|MedGen:CN517202	2	202570191	202570191	NC_000002.11:g.202570191T>C	ClinGen:CA2057531	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.4581-48T>C	57679	ALS2	Benign	rs3219170	RCV000247168\|RCV001549260\|RCV001549259\|RCV001549261\|RCV001711575;	N	MedGen:CN169374\|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202	2	202570232	202570232	2:g.202570232A>G	ClinGen:CA2057543	CN169374 not specified;
NM_020919.4(ALS2):c.4580+7G>A	57679	ALS2	Benign	rs3219169	RCV000242163\|RCV000306834\|RCV000391745\|RCV001509590\|RCV001549262\|RCV001660346;	N	MedGen:CN169374\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604\|MedGen:CN517202	2	202571562	202571562	2:g.202571562C>T	ClinGen:CA2057550	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.4573dup (p.Val1525fs)	57679	ALS2	Pathogenic/Likely pathogenic	rs730882256	RCV000162072\|RCV001089474;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202571575	202571576	NC_000002.11:g.202571579dup	ClinGen:CA273789,OMIM:606352.0017	C1859807 205100 Amyotrophic lateral sclerosis type 2;
NM_020919.4(ALS2):c.4566T>C (p.Phe1522=)	57679	ALS2	Conflicting interpretations of pathogenicity	rs1214757167	RCV001143426\|RCV001143427\|RCV002070726;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202571583	202571583	2:g.202571583A>G	-
NM_020919.4(ALS2):c.4416G>A (p.Thr1472=)	57679	ALS2	Conflicting interpretations of pathogenicity	rs200202953	RCV000276464\|RCV000370877\|RCV000862055\|RCV001289226\|RCV001571366;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN169374\|MedGen:CN517202	2	202571733	202571733	NC_000002.11:g.202571733C>T	ClinGen:CA2057570	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.4415C>T (p.Thr1472Met)	57679	ALS2	Uncertain significance	rs201089588	RCV000803341\|RCV001136863\|RCV001136862;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202571734	202571734	2:g.202571734G>A	-
NM_020919.4(ALS2):c.4381C>T (p.Arg1461Ter)	57679	ALS2	Pathogenic	rs374047961	RCV001095479\|RCV001391373;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202572614	202572614	2:g.202572614G>A	-
NM_020919.4(ALS2):c.4366G>C (p.Gly1456Arg)	57679	ALS2	Uncertain significance	rs886055452	RCV000261969\|RCV000317080;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202572629	202572629	NC_000002.11:g.202572629C>G	ClinGen:CA10613551	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.4261C>T (p.Arg1421Ter)	57679	ALS2	Likely pathogenic	rs863225293	RCV000986979\|RCV002500830;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604; MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:2931	2	202574623	202574623	NC_000002.11:g.202574623G>A	ClinVar:217879	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.4223T>A (p.Leu1408Ter)	57679	ALS2	Pathogenic	-1	RCV002223744;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202574661	202574661	202574661	-
NM_020919.4(ALS2):c.4123-4T>C	57679	ALS2	Uncertain significance	rs886055453	RCV000286752\|RCV000371766;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202574765	202574765	NC_000002.11:g.202574765A>G	ClinGen:CA10613871	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.4123-64G>A	57679	ALS2	Benign	-1	RCV001549263\|RCV001549264\|RCV001549265\|RCV001673194;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202	2	202574825	202574825	202574825	-
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met)	57679	ALS2	Conflicting interpretations of pathogenicity	rs61757691	RCV000277866\|RCV000323025\|RCV000377762\|RCV000539511\|RCV001084529\|RCV001848051;	N	MedGen:CN169374\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202575717	202575717	2:g.202575717T>C	ClinGen:CA2057670	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.4015C>T (p.Leu1339=)	57679	ALS2	Benign	rs3219168	RCV000250217\|RCV000283291\|RCV000347093\|RCV000710524\|RCV001509591\|RCV001549266;	N	MedGen:CN169374\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604	2	202575821	202575821	2:g.202575821G>A	ClinGen:CA2057684	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.4004+25C>T	57679	ALS2	Benign	rs3219167	RCV000254072\|RCV001549269\|RCV001549267\|RCV001549268\|RCV001651241;	N	MedGen:CN169374\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604\|MedGen:CN517202	2	202580370	202580370	2:g.202580370G>A	ClinGen:CA2057701	CN169374 not specified;
NM_020919.4(ALS2):c.3983G>A (p.Ser1328Asn)	57679	ALS2	Uncertain significance	rs1242751535	RCV001139098\|RCV001139099\|RCV001856786;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202580416	202580416	2:g.202580416C>T	-
NM_020919.4(ALS2):c.3930C>A (p.Gly1310=)	57679	ALS2	Uncertain significance	rs780354290	RCV000289092\|RCV000402291;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202580469	202580469	NC_000002.11:g.202580469G>T	ClinGen:CA2057720	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.3905G>A (p.Arg1302His)	57679	ALS2	Likely benign	rs199577696	RCV000862275\|RCV001141706\|RCV001141707;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202580494	202580494	2:g.202580494C>T	-
NM_020919.4(ALS2):c.3885G>A (p.Ala1295=)	57679	ALS2	Benign	rs34946105	RCV000250738\|RCV000344027\|RCV000398431\|RCV000465089\|RCV001636813\|RCV001848040;	N	MedGen:CN169374\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202580514	202580514	2:g.202580514C>T	ClinGen:CA2057732	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.3876G>A (p.Lys1292=)	57679	ALS2	Conflicting interpretations of pathogenicity	rs200417604	RCV000313623\|RCV000368212\|RCV000863516;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202580523	202580523	NC_000002.11:g.202580523C>T	ClinGen:CA2057735	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.3863C>T (p.Pro1288Leu)	57679	ALS2	Uncertain significance	rs376835062	RCV000640987\|RCV001143529\|RCV001143530\|RCV002222571\|RCV002473084;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MedGen:CN169374\|MedGen:CN517202	2	202580536	202580536	NC_000002.11:g.202580536G>A	ClinGen:CA2057740	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=)	57679	ALS2	Conflicting interpretations of pathogenicity	rs3219166	RCV000473535\|RCV001143531\|RCV001143532\|RCV001531945\|RCV001662448\|RCV001848840;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202582895	202582895	NC_000002.11:g.202582895A>C	ClinGen:CA2057766	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.3658A>G (p.Ile1220Val)	57679	ALS2	Uncertain significance	rs370591665	RCV001143533\|RCV001143534\|RCV001858942;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202587810	202587810	2:g.202587810T>C	-
NM_020919.4(ALS2):c.3520A>T (p.Lys1174Ter)	57679	ALS2	Pathogenic	rs757972700	RCV000800103\|RCV001375960\|RCV002051896;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN517202	2	202588157	202588157	2:g.202588157T>A	-
NM_020919.4(ALS2):c.3462G>A (p.Gln1154=)	57679	ALS2	Benign/Likely benign	rs556027390	RCV000867659\|RCV001136959\|RCV001143536;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202589068	202589068	2:g.202589068C>T	-
NM_020919.4(ALS2):c.3416G>A (p.Arg1139Gln)	57679	ALS2	Uncertain significance	rs761444982	RCV001136960\|RCV001136961\|RCV001367326\|RCV002473205;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202	2	202589114	202589114	2:g.202589114C>T	-
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter)	57679	ALS2	Pathogenic/Likely pathogenic	rs767350733	RCV000421128\|RCV000624087\|RCV000735438\|RCV001851103\|RCV002481351;	N	MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011	2	202589115	202589115	2:g.202589115G>A	ClinGen:CA2057886	C0950123 Inborn genetic diseases;
NM_020919.4(ALS2):c.3394C>T (p.Arg1132Cys)	57679	ALS2	Uncertain significance	rs149670991	RCV001136962\|RCV001136963\|RCV001856750;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202589136	202589136	2:g.202589136G>A	-
NM_020919.4(ALS2):c.3345C>T (p.Tyr1115=)	57679	ALS2	Conflicting interpretations of pathogenicity	rs557709223	RCV001136964\|RCV001136965\|RCV001760096\|RCV002070598;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202590081	202590081	2:g.202590081G>A	-
NM_020919.4(ALS2):c.3309T>C (p.His1103=)	57679	ALS2	Benign/Likely benign	rs201920363	RCV000555606\|RCV001086810\|RCV001136966\|RCV001139217;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202590117	202590117	NC_000002.11:g.202590117A>G	ClinGen:CA2057918	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu)	57679	ALS2	Conflicting interpretations of pathogenicity	rs200706696	RCV000261194\|RCV000355910\|RCV000515815\|RCV000863616\|RCV001260560\|RCV001590976;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|Human Phenotype Ontology:HP:0007354,MONDO:MOND	2	202591249	202591249	NC_000002.11:g.202591249C>T	ClinGen:CA2057955	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.3158G>A (p.Trp1053Ter)	57679	ALS2	Likely pathogenic	rs1064797281	RCV000488207\|RCV002512105;	N	MedGen:CN517202\|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604; MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202591411	202591411	NC_000002.11:g.202591411C>T	ClinGen:CA16621787	CN517202 not provided;
NM_020919.4(ALS2):c.3134A>T (p.Lys1045Met)	57679	ALS2	Uncertain significance	rs781051642	RCV000704262\|RCV000764354;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168; MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:2476	2	202591435	202591435	NC_000002.11:g.202591435T>A	-	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.3046C>G (p.Pro1016Ala)	57679	ALS2	Conflicting interpretations of pathogenicity	rs41308840	RCV000640994\|RCV001139219\|RCV001139218\|RCV001591429;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MedGen:CN517202	2	202591523	202591523	NC_000002.11:g.202591523G>C	ClinGen:CA2057993	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.2961A>G (p.Ser987=)	57679	ALS2	Uncertain significance	rs780301796	RCV001139220\|RCV001139221;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202591953	202591953	2:g.202591953T>C	-
NM_020919.4(ALS2):c.2953C>T (p.Leu985Phe)	57679	ALS2	Uncertain significance	rs41308836	RCV001139222\|RCV001141831;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202591961	202591961	2:g.202591961G>A	-
NM_020919.4(ALS2):c.2912+8C>T	57679	ALS2	Conflicting interpretations of pathogenicity	rs528131651	RCV001141832\|RCV001141833\|RCV001847072\|RCV002538983;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202592420	202592420	2:g.202592420G>A	-
NM_020919.4(ALS2):c.2909G>T (p.Gly970Val)	57679	ALS2	Conflicting interpretations of pathogenicity	rs375742430	RCV000316456\|RCV000361538\|RCV000703570\|RCV001848676;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202592431	202592431	NC_000002.11:g.202592431C>A	ClinGen:CA2058054	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.2842-20C>T	57679	ALS2	Benign/Likely benign	-1	RCV001590574\|RCV002070458\|RCV002488436;	N	MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:6072	2	202592518	202592518	202592518	-
NM_020919.4(ALS2):c.2802T>C (p.Asn934=)	57679	ALS2	Uncertain significance	rs1265678329	RCV001141835\|RCV001141834;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202593274	202593274	2:g.202593274A>G	-
NM_020919.4(ALS2):c.2796C>T (p.Ser932=)	57679	ALS2	Benign	rs3219161	RCV000254279\|RCV000267099\|RCV000322182\|RCV001510257\|RCV001636812;	N	MedGen:CN169374\|MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202	2	202593280	202593280	2:g.202593280G>A	ClinGen:CA2058079	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter)	57679	ALS2	Pathogenic	rs587777132	RCV000087053\|RCV000171328\|RCV001095478;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202593315	202593315	NC_000002.11:g.202593315G>A	ClinGen:CA236114,OMIM:606352.0015	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.2712G>A (p.Thr904=)	57679	ALS2	Uncertain significance	rs201200488	RCV000291959\|RCV000376765\|RCV000685367\|RCV001579967\|RCV001848677;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202593775	202593775	NC_000002.11:g.202593775C>T	ClinGen:CA2058110	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.2707dup (p.Met903fs)	57679	ALS2	Pathogenic	-1	RCV002223745;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202593779	202593780	202593779	-
NM_020919.4(ALS2):c.2580+15A>G	57679	ALS2	Uncertain significance	rs1691683706	RCV001143634\|RCV001143635;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202597984	202597984	2:g.202597984T>C	-
NM_020919.4(ALS2):c.2541C>T (p.Tyr847=)	57679	ALS2	Conflicting interpretations of pathogenicity	rs181782027	RCV000925126\|RCV001143637\|RCV001143636\|RCV001460449;	N	MedGen:CN517202\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202598038	202598038	2:g.202598038G>A	-
NM_020919.4(ALS2):c.2528G>A (p.Arg843Gln)	57679	ALS2	Uncertain significance	rs368315489	RCV001137063\|RCV001143638\|RCV002558301\|RCV002556912;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MeSH:D030342,MedGen:C0950123	2	202598051	202598051	2:g.202598051C>T	-
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)	57679	ALS2	Conflicting interpretations of pathogenicity	rs202219507	RCV000328276\|RCV000382737\|RCV000414980\|RCV000813075\|RCV001289224\|RCV001358657\|RCV001580056\|RCV001848678;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|Human Phenotype Ontology:HP:0003477,Human Phenotype Ontology:HP:0006814,Human Phenotype Ontology:HP:0006842,Human Phenotype Ontology:HP:0007169,Human Phenotype Ontology:HP:0	2	202598100	202598100	NC_000002.11:g.202598100T>A	ClinGen:CA2058171	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.2472C>T (p.Asp824=)	57679	ALS2	Uncertain significance	rs761267157	RCV001137064\|RCV001137065;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202598107	202598107	2:g.202598107G>A	-
NM_020919.4(ALS2):c.2466G>A (p.Val822=)	57679	ALS2	Benign	rs2276615	RCV000249292\|RCV000288406\|RCV000352784\|RCV000710522\|RCV001509592\|RCV001548877;	N	MedGen:CN169374\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604	2	202598113	202598113	2:g.202598113C>T	ClinGen:CA2058174	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.2450A>G (p.Gln817Arg)	57679	ALS2	Uncertain significance	rs751084476	RCV001137066\|RCV001139310;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202598129	202598129	2:g.202598129T>C	-
NM_020919.4(ALS2):c.2362T>A (p.Ser788Thr)	57679	ALS2	Uncertain significance	rs1184685995	RCV001139311\|RCV001139312\|RCV001856790;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202603448	202603448	2:g.202603448A>T	-
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=)	57679	ALS2	Conflicting interpretations of pathogenicity	rs3219160	RCV000294407\|RCV000388670\|RCV000756988\|RCV001082502\|RCV001848004;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202606507	202606507	NC_000002.11:g.202606507G>A	ClinGen:CA2058242	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.2171-62C>T	57679	ALS2	Benign	-1	RCV001548878\|RCV001548879\|RCV001548880\|RCV001655873;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202	2	202606639	202606639	202606639	-
NM_020919.4(ALS2):c.2170+19T>C	57679	ALS2	Likely benign	-1	RCV002208091\|RCV002500434;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604; MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:2931	2	202608962	202608962	202608962	-
NM_020919.4(ALS2):c.2104G>T (p.Glu702Ter)	57679	ALS2	Likely pathogenic	rs1574748038	RCV000991370;	N	MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604; MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202609047	202609047	2:g.202609047C>A	-
NM_020919.4(ALS2):c.2002G>T (p.Gly668Ter)	57679	ALS2	Pathogenic	rs730882255	RCV000162071;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202609149	202609149	NC_000002.11:g.202609149C>A	ClinGen:CA273787,OMIM:606352.0016	C1859807 205100 Amyotrophic lateral sclerosis type 2;
NM_020919.4(ALS2):c.1816-7G>A	57679	ALS2	Conflicting interpretations of pathogenicity	rs763440221	RCV001139313\|RCV001139314\|RCV002559343;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202611478	202611478	2:g.202611478C>T	-
NM_020919.4(ALS2):c.1816-8C>T	57679	ALS2	Conflicting interpretations of pathogenicity	rs185911369	RCV000251509\|RCV000349374\|RCV000400905\|RCV000710520\|RCV001087893\|RCV001848038;	N	MedGen:CN169374\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202611479	202611479	2:g.202611479G>A	ClinGen:CA2058339	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.1805G>A (p.Arg602His)	57679	ALS2	Uncertain significance	rs201496655	RCV000297939\|RCV000336519;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202614445	202614445	NC_000002.11:g.202614445C>T	ClinGen:CA2058357	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.1783G>T (p.Asp595Tyr)	57679	ALS2	Uncertain significance	rs199603159	RCV001141935\|RCV001141936;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202614467	202614467	2:g.202614467C>A	-
NM_020919.4(ALS2):c.1718C>A (p.Ala573Glu)	57679	ALS2	Likely pathogenic	rs763455928	RCV001089471\|RCV001095477;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202617888	202617888	2:g.202617888G>T	-
NM_020919.4(ALS2):c.1649C>T (p.Pro550Leu)	57679	ALS2	Likely pathogenic	-1	RCV001824228;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202617957	202617957	202617957	-
NM_020919.4(ALS2):c.1641G>A (p.Arg547=)	57679	ALS2	Uncertain significance	rs34122078	RCV000557506\|RCV001141937\|RCV001141938\|RCV001553526;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MedGen:CN517202	2	202617965	202617965	NC_000002.11:g.202617965C>T	ClinGen:CA2058394	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1640+10A>G	57679	ALS2	Conflicting interpretations of pathogenicity	rs755148474	RCV000920182\|RCV001141939\|RCV001143734;	N	MedGen:CN517202\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202619216	202619216	2:g.202619216T>C	-
NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn)	57679	ALS2	Conflicting interpretations of pathogenicity	rs201161419	RCV000862041\|RCV001143735\|RCV001143736\|RCV001672966\|RCV001849153;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202619239	202619239	2:g.202619239C>T	-
NM_020919.4(ALS2):c.1545A>C (p.Gly515=)	57679	ALS2	Uncertain significance	rs377402588	RCV001143738\|RCV001143737;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202619321	202619321	2:g.202619321T>G	-
NM_020919.4(ALS2):c.1402G>A (p.Val468Met)	57679	ALS2	Uncertain significance	rs1412043555	RCV001143740\|RCV001143739;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202622194	202622194	2:g.202622194C>T	-
NM_020919.4(ALS2):c.1321_1327del (p.Ile441fs)	57679	ALS2	Likely pathogenic	-1	RCV002512482;	N	MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604; MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202622269	202622275	NC_000002.11:g.202622272_202622278del	-
NM_020919.4(ALS2):c.1325G>T (p.Gly442Val)	57679	ALS2	Uncertain significance	rs780750146	RCV001137181\|RCV001143741;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202622271	202622271	2:g.202622271C>A	-
NM_020919.4(ALS2):c.1304A>T (p.Gln435Leu)	57679	ALS2	Uncertain significance	rs1085307055	RCV000490310;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202622292	202622292	NC_000002.11:g.202622292T>A	ClinGen:CA350326819	C1859807 205100 Amyotrophic lateral sclerosis type 2;
NM_020919.4(ALS2):c.1283C>A (p.Thr428Asn)	57679	ALS2	Uncertain significance	rs886055454	RCV000266152\|RCV000358508;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202622313	202622313	NC_000002.11:g.202622313G>T	ClinGen:CA10612454	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.1251A>G (p.Ser417=)	57679	ALS2	Uncertain significance	rs750482532	RCV000309519\|RCV000366368;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202622345	202622345	NC_000002.11:g.202622345T>C	ClinGen:CA2058489	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.1233T>G (p.Tyr411Ter)	57679	ALS2	Pathogenic	rs369577952	RCV000640988\|RCV000763471;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:2931	2	202622363	202622363	NC_000002.11:g.202622363A>C	ClinGen:CA350326975	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1171G>A (p.Ala391Thr)	57679	ALS2	Uncertain significance	rs41308816	RCV000530345\|RCV001137182\|RCV001137183;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202622425	202622425	NC_000002.11:g.202622425C>T	ClinGen:CA2058502	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg)	57679	ALS2	Conflicting interpretations of pathogenicity	rs190369242	RCV000512695\|RCV000516346\|RCV000764355\|RCV001082210\|RCV001137184\|RCV001139424\|RCV001848003;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168; MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604\|MONDO:MONDO:0011797,MedGen:C2	2	202622481	202622481	NC_000002.11:g.202622481G>C	ClinGen:CA2058513	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1102G>A (p.Val368Met)	57679	ALS2	Benign	rs3219156	RCV000243956\|RCV000269440\|RCV000326864\|RCV000710519\|RCV001509593\|RCV001548881;	N	MedGen:CN169374\|MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604	2	202625615	202625615	2:g.202625615C>T	ClinGen:CA2058548,UniProtKB:Q96Q42#VAR_015656	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.1044C>T (p.Tyr348=)	57679	ALS2	Conflicting interpretations of pathogenicity	rs1693726956	RCV001139425\|RCV001139426\|RCV002556972;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625673	202625673	2:g.202625673G>A	-
NM_020919.4(ALS2):c.1037A>G (p.Asn346Ser)	57679	ALS2	Uncertain significance	rs199757764	RCV000640990\|RCV001140200\|RCV001139427;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202625680	202625680	NC_000002.11:g.202625680T>C	ClinGen:CA2058557	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1011A>G (p.Pro337=)	57679	ALS2	Uncertain significance	rs1574786314	RCV001140202\|RCV001140201;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202625706	202625706	2:g.202625706T>C	-
NM_020919.4(ALS2):c.997G>T (p.Ala333Ser)	57679	ALS2	Uncertain significance	rs777806515	RCV000277763\|RCV000388460;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202625720	202625720	NC_000002.11:g.202625720C>A	ClinGen:CA2058564	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.886G>A (p.Ala296Thr)	57679	ALS2	Uncertain significance	rs765049503	RCV001140204\|RCV001140203\|RCV001579560\|RCV002559355;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN517202\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202625831	202625831	2:g.202625831C>T	-
NM_020919.4(ALS2):c.601C>T (p.Arg201Ter)	57679	ALS2	Pathogenic/Likely pathogenic	rs1574787779	RCV000991371\|RCV000995488\|RCV001030773;	N	MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604; MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:2931	2	202626116	202626116	2:g.202626116G>A	-
NM_020919.4(ALS2):c.553del (p.Thr185fs)	57679	ALS2	Pathogenic	rs386134174	RCV000004664\|RCV000995489;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604	2	202626164	202626164	2:g.202626164_202626164del	ClinGen:CA340250,OMIM:606352.0011	C1859807 205100 Amyotrophic lateral sclerosis type 2;
NM_020919.4(ALS2):c.475G>A (p.Glu159Lys)	57679	ALS2	Benign/Likely benign	rs3219155	RCV000227758\|RCV000330397\|RCV001142050\|RCV001287973\|RCV001711641\|RCV001848005\|RCV002494657;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:00	2	202626242	202626242	NC_000002.11:g.202626242C>T	ClinGen:CA2058645,UniProtKB:Q96Q42#VAR_036748	CN239196 Amyotrophic Lateral Sclerosis, Recessive;
NM_020919.4(ALS2):c.396G>A (p.Pro132=)	57679	ALS2	Conflicting interpretations of pathogenicity	rs374978798	RCV001142052\|RCV001142051\|RCV002539027;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626321	202626321	2:g.202626321C>T	-
NM_020919.4(ALS2):c.395C>T (p.Pro132Leu)	57679	ALS2	Uncertain significance	rs41308810	RCV001142053\|RCV001142054\|RCV001246012;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626322	202626322	2:g.202626322G>A	-
NM_020919.4(ALS2):c.366G>A (p.Gln122=)	57679	ALS2	Conflicting interpretations of pathogenicity	rs775483404	RCV000866239\|RCV001142055\|RCV001142056\|RCV001847066;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202626351	202626351	2:g.202626351C>T	-
NM_020919.4(ALS2):c.346G>A (p.Gly116Arg)	57679	ALS2	Uncertain significance	rs1693775888	RCV001263249;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202626371	202626371	2:g.202626371C>T	-
NM_020919.4(ALS2):c.339C>T (p.Tyr113=)	57679	ALS2	Conflicting interpretations of pathogenicity	rs370824570	RCV001137293\|RCV001142057\|RCV001444397;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168	2	202626378	202626378	2:g.202626378G>A	-
NM_020919.4(ALS2):c.331G>A (p.Val111Ile)	57679	ALS2	Conflicting interpretations of pathogenicity	rs61745503	RCV001089250\|RCV001137294\|RCV001137295\|RCV001644727\|RCV001849016;	N	MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169374\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202626386	202626386	NC_000002.11:g.202626386C>T	ClinGen:CA2058669	C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.280A>G (p.Ile94Val)	57679	ALS2	Benign	rs3219154	RCV000244654\|RCV000281155\|RCV000387223\|RCV000459871\|RCV001706359\|RCV001848039;	N	MedGen:CN169374\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	202626437	202626437	2:g.202626437T>C	ClinGen:CA2058676,UniProtKB:Q96Q42#VAR_036747	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.248T>G (p.Ile83Ser)	57679	ALS2	Uncertain significance	rs886055455	RCV000338160\|RCV000371841;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202626469	202626469	NC_000002.11:g.202626469A>C	ClinGen:CA10613881	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.176A>T (p.Asp59Val)	57679	ALS2	Uncertain significance	-1	RCV002471927;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202626541	202626541	NC_000002.11:g.202626541T>A	-
NM_020919.4(ALS2):c.138del (p.Ala47fs)	57679	ALS2	Pathogenic	rs386134173	RCV000004655;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202631989	202631989	NC_000002.11:g.202631989del	ClinGen:CA340238,OMIM:606352.0001	C1859807 205100 Amyotrophic lateral sclerosis type 2;
NM_020919.4(ALS2):c.20+9A>G	57679	ALS2	Uncertain significance	rs763370210	RCV000279639\|RCV000341635;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202633580	202633580	NC_000002.11:g.202633580T>C	ClinGen:CA2058751	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.20+7T>C	57679	ALS2	Benign	rs3219153	RCV000243518\|RCV000302011\|RCV000399186\|RCV001509594\|RCV001610719\|RCV001548882;	N	MedGen:CN169374\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291\|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168\|MedGen:CN517202\|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604	2	202633582	202633582	2:g.202633582A>G	ClinGen:CA2058752	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.-31T>A	57679	ALS2	Uncertain significance	rs886055456	RCV000340593\|RCV000400039;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202633639	202633639	NC_000002.11:g.202633639A>T	ClinGen:CA10613554	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.-93A>G	57679	ALS2	Uncertain significance	rs373055404	RCV000310299\|RCV000362634;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202645632	202645632	NC_000002.11:g.202645632T>C	ClinGen:CA10612461	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.-95G>C	57679	ALS2	Benign	rs77327610	RCV000270281\|RCV000313725;	N	MedGen:CN169291\|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605	2	202645634	202645634	NC_000002.11:g.202645634C>G	ClinGen:CA10613555	CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.-99C>T	57679	ALS2	Uncertain significance	rs1047871413	RCV001140304\|RCV001140305;	N	MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605\|MedGen:CN169291	2	202645638	202645638	2:g.202645638G>A	-

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