"GeneDx"[submitter] AND "ALS2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 58817	GRCh38/hg38 2q33.1(chr2:201537291-201896769)x1	ALS2, C2CD6 +11 more	Copy number loss	See cases	GPathogenic
Select item 333580	NM_020919.4(ALS2):c.*163A>G	ALS2	Single nucleotide variant (3 prime UTR variant)	ALS2-related disorder +2 more	GLikely benign
Select item 333581	NM_020919.4(ALS2):c.*105A>C	ALS2	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 2, juvenile +2 more	GBenign/Likely benign
Select item 898013	NM_020919.4(ALS2):c.4957C>T (p.Arg1653Cys)	ALS2 (R1653C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1178828	NM_020919.4(ALS2):c.4936-120G>T	ALS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292878	NM_020919.4(ALS2):c.4936-129A>G	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230069	NM_020919.4(ALS2):c.4936-152G>A	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194515	NM_020919.4(ALS2):c.4936-233G>A	ALS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260708	NM_020919.4(ALS2):c.4935+281T>C	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211994	NM_020919.4(ALS2):c.4935+226C>T	ALS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 208757	NM_020919.4(ALS2):c.4897C>T (p.Gln1633Ter)	ALS2 (Q1633*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 241313	NM_020919.4(ALS2):c.4764G>A (p.Ala1588=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis +5 more	GBenign/Likely benign
Select item 1227486	NM_020919.4(ALS2):c.4688+208G>T	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1311321	NM_020919.4(ALS2):c.4642A>G (p.Lys1548Glu)	ALS2 (K1548E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1188975	NM_020919.4(ALS2):c.4627-69T>A	ALS2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 3377954	NM_020919.4(ALS2):c.4584A>C (p.Lys1528Asn)	ALS2 (K1527N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 333584	NM_020919.4(ALS2):c.4581-7A>G	ALS2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 261379	NM_020919.4(ALS2):c.4581-48T>C	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis +4 more	GBenign
Select item 1219612	NM_020919.4(ALS2):c.4581-71C>T	ALS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206604	NM_020919.4(ALS2):c.4581-297G>A	ALS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1297876	NM_020919.4(ALS2):c.4581-313dup	ALS2	Duplication (intron variant)	not provided	GBenign
Select item 261378	NM_020919.4(ALS2):c.4580+7G>A	ALS2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 392098	NM_020919.4(ALS2):c.4466T>C (p.Leu1489Pro)	ALS2 (L1489P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 333585	NM_020919.4(ALS2):c.4416G>A (p.Thr1472=)	ALS2	Single nucleotide variant (synonymous variant)	ALS2-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1191233	NM_020919.4(ALS2):c.4404-183A>C	ALS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228250	NM_020919.4(ALS2):c.4403+255C>T	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260137	NM_020919.4(ALS2):c.4403+246A>G	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1308213	NM_020919.4(ALS2):c.4303G>A (p.Glu1435Lys)	ALS2 (E1435K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1292460	NM_020919.4(ALS2):c.4281-92G>C	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295658	NM_020919.4(ALS2):c.4281-196C>T	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293850	NM_020919.4(ALS2):c.4281-211G>A	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286070	NM_020919.4(ALS2):c.4281-326G>C	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1309622	NM_020919.4(ALS2):c.4228G>C (p.Glu1410Gln)	ALS2 (E1410Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1189020	NM_020919.4(ALS2):c.4123-64G>A	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis +3 more	GBenign
Select item 1270933	NM_020919.4(ALS2):c.4123-152dup	ALS2	Duplication (intron variant)	not provided	GBenign
Select item 282606	NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met)	ALS2 (I1373M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +5 more	GBenign/Likely benign
Select item 1328579	NM_020919.4(ALS2):c.4069G>A (p.Val1357Ile)	ALS2 (V1357I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 261377	NM_020919.4(ALS2):c.4015C>T (p.Leu1339=)	ALS2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 1200115	NM_020919.4(ALS2):c.4005-75G>A	ALS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292874	NM_020919.4(ALS2):c.4005-76T>C	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236087	NM_020919.4(ALS2):c.4005-111G>A	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205599	NM_020919.4(ALS2):c.4005-127T>C	ALS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222195	NM_020919.4(ALS2):c.4005-134G>T	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190470	NM_020919.4(ALS2):c.4005-311A>G	ALS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245267	NM_020919.4(ALS2):c.4004+127A>G	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211207	NM_020919.4(ALS2):c.4004+67A>C	ALS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 261375	NM_020919.4(ALS2):c.4004+25C>T	ALS2	Single nucleotide variant (intron variant)	Juvenile primary lateral sclerosis +4 more	GBenign
Select item 432588	NM_020919.4(ALS2):c.3939A>C (p.Glu1313Asp)	ALS2 (E1313D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 261374	NM_020919.4(ALS2):c.3885G>A (p.Ala1295=)	ALS2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 2, juvenile +5 more	GBenign
Select item 412225	NM_020919.4(ALS2):c.3746T>C (p.Phe1249Ser)	ALS2 (F1249S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 417159	NM_020919.4(ALS2):c.3741T>G (p.Gly1247=)	ALS2	Single nucleotide variant (synonymous variant)	ALS2-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 1223131	NM_020919.4(ALS2):c.3703-135G>A	ALS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245934	NM_020919.4(ALS2):c.3702+183G>T	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226398	NM_020919.4(ALS2):c.3702+180A>G	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267776	NM_020919.4(ALS2):c.3702+113G>A	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195350	NM_020919.4(ALS2):c.3702+107G>T	ALS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292907	NM_020919.4(ALS2):c.3702+51dup	ALS2	Duplication (intron variant)	not provided	GBenign
Select item 333591	NM_020919.4(ALS2):c.3625-16_3625-15del	ALS2	Deletion (intron variant)	Infantile-onset ascending hereditary spastic paralysis +3 more	GBenign/Likely benign
Select item 645923	NM_020919.4(ALS2):c.3520A>T (p.Lys1174Ter)	ALS2 (K1174*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 220656	NM_020919.4(ALS2):c.3517G>A (p.Glu1173Lys)	ALS2 (E1173K)	Single nucleotide variant (missense variant)	ALS2-related disorder +4 more	GBenign/Likely benign
Select item 1233982	NM_020919.4(ALS2):c.3513-86G>A	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273187	NM_020919.4(ALS2):c.3513-166A>G	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189302	NM_020919.4(ALS2):c.3512+233C>G	ALS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 393199	NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter)	ALS2 (R1139*)	Single nucleotide variant (nonsense)	Infantile-onset ascending hereditary spastic paralysis +4 more	GPathogenic/Likely pathogenic
Select item 1265386	NM_020919.4(ALS2):c.3348-75A>G	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191113	NM_020919.4(ALS2):c.3348-290A>G	ALS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296612	NM_020919.4(ALS2):c.3348-313A>G	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250624	NM_020919.4(ALS2):c.3347+287G>A	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233045	NM_020919.4(ALS2):c.3347+248T>C	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232928	NM_020919.4(ALS2):c.3347+227dup	ALS2	Duplication (intron variant)	not provided	GBenign
Select item 895080	NM_020919.4(ALS2):c.3345C>T (p.Tyr1115=)	ALS2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 967523	NM_020919.4(ALS2):c.3331G>A (p.Gly1111Ser)	ALS2 (G1111S)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +1 more	GUncertain significance
Select item 465189	NM_020919.4(ALS2):c.3309T>C (p.His1103=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis +3 more	GBenign/Likely benign
Select item 1193904	NM_020919.4(ALS2):c.3249-293G>C	ALS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1331310	NM_020919.4(ALS2):c.3223A>G (p.Met1075Val)	ALS2 (M1075V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 333592	NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu)	ALS2 (G1069E)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis +5 more	GConflicting classifications of pathogenicity
Select item 1702795	NM_020919.4(ALS2):c.3099T>A (p.Ser1033Arg)	ALS2 (S1033R)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +1 more	GUncertain significance
Select item 533749	NM_020919.4(ALS2):c.3046C>G (p.Pro1016Ala)	ALS2 (P1016A)	Single nucleotide variant (missense variant)	ALS2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1254195	NM_020919.4(ALS2):c.2980-26T>A	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239200	NM_020919.4(ALS2):c.2979+155dup	ALS2	Duplication (intron variant)	not provided	GBenign
Select item 1208999	NM_020919.4(ALS2):c.2979+102C>G	ALS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1697204	NM_020919.4(ALS2):c.2929A>G (p.Thr977Ala)	ALS2 (T977A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1252160	NM_020919.4(ALS2):c.2913-30_2913-26del	ALS2	Deletion (intron variant)	not provided	GBenign
Select item 1269427	NM_020919.4(ALS2):c.2913-58C>T	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215177	NM_020919.4(ALS2):c.2913-202A>G	ALS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 504060	NM_020919.4(ALS2):c.2845_2854dup (p.His952fs)	ALS2 (H952fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 261372	NM_020919.4(ALS2):c.2842-16G>A	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis +2 more	GBenign
Select item 1219899	NM_020919.4(ALS2):c.2842-20C>T	ALS2	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 2, juvenile +3 more	GBenign/Likely benign
Select item 1282144	NM_020919.4(ALS2):c.2841+261G>A	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280817	NM_020919.4(ALS2):c.2841+253G>A	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207255	NM_020919.4(ALS2):c.2841+136C>T	ALS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 261371	NM_020919.4(ALS2):c.2841+48del	ALS2	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 261369	NM_020919.4(ALS2):c.2796C>T (p.Ser932=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis +4 more	GBenign
Select item 1264075	NM_020919.4(ALS2):c.2713-96T>C	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225028	NM_020919.4(ALS2):c.2713-198_2713-195del	ALS2	Microsatellite (intron variant)	not provided	GBenign
Select item 426280	NM_020919.4(ALS2):c.2675C>T (p.Thr892Ile)	ALS2 (T892I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 382208	NM_020919.4(ALS2):c.2638C>G (p.Leu880Val)	ALS2 (L880V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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