Full data view for gene ALS2

Information The variants shown are described using the NM_020919.3 transcript reference sequence.

188 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-60-56del r.(=) p.(=) Unknown - likely benign g.202633725del g.201769002del ALS2(NM_020919.4):c.-60-56delA - ALS2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-60-2A>G r.spl? p.? Unknown - likely pathogenic g.202633670T>C g.201768947T>C ALS2(NM_020919.3):c.-60-2A>G, ALS2(NM_020919.4):c.-60-2A>G - ALS2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-60-2A>G r.spl? p.? Unknown - pathogenic g.202633670T>C g.201768947T>C ALS2(NM_020919.3):c.-60-2A>G, ALS2(NM_020919.4):c.-60-2A>G - ALS2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7T>C r.(?) p.(Ser3Pro) Unknown - likely benign g.202633602A>G g.201768879A>G ALS2(NM_020919.4):c.7T>C (p.S3P) - ALS2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.20+7T>C r.(=) p.(=) Unknown - benign g.202633582A>G g.201768859A>G ALS2(NM_020919.3):c.20+7T>C, ALS2(NM_020919.4):c.20+7T>C - ALS2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.20+7T>C r.(=) p.(=) Unknown - benign g.202633582A>G g.201768859A>G ALS2(NM_020919.3):c.20+7T>C, ALS2(NM_020919.4):c.20+7T>C - ALS2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.20+7T>C r.(=) p.(=) Unknown - benign g.202633582A>G g.201768859A>G ALS2(NM_020919.3):c.20+7T>C, ALS2(NM_020919.4):c.20+7T>C - ALS2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.20+7T>C r.(=) p.(=) Unknown - benign g.202633582A>G g.201768859A>G ALS2(NM_020919.3):c.20+7T>C, ALS2(NM_020919.4):c.20+7T>C - ALS2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.88A>G r.(?) p.(Ile30Val) Unknown - likely benign g.202632039T>C g.201767316T>C ALS2(NM_020919.3):c.88A>G (p.I30V) - ALS2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.176-18C>T r.(=) p.(=) Unknown - benign g.202626559G>A g.201761836G>A ALS2(NM_020919.4):c.176-18C>T - ALS2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.217G>A r.(?) p.(Gly73Arg) Unknown - VUS g.202626500C>T - ALS2(NM_020919.4):c.217G>A (p.(Gly73Arg)) - ALS2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.280A>G r.(?) p.(Ile94Val) Unknown - benign g.202626437T>C g.201761714T>C ALS2(NM_020919.3):c.280A>G (p.I94V), ALS2(NM_020919.4):c.280A>G (p.I94V) - ALS2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.280A>G r.(?) p.(Ile94Val) Unknown - benign g.202626437T>C g.201761714T>C ALS2(NM_020919.3):c.280A>G (p.I94V), ALS2(NM_020919.4):c.280A>G (p.I94V) - ALS2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.280A>G r.(?) p.(Ile94Val) Unknown - benign g.202626437T>C g.201761714T>C ALS2(NM_020919.3):c.280A>G (p.I94V), ALS2(NM_020919.4):c.280A>G (p.I94V) - ALS2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.280A>G r.(?) p.(Ile94Val) Parent #1 - likely benign g.202626437T>C g.201761714T>C - - ALS2_000041 147 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3219154 Germline - 147/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 147 Mohammed Faruq
-?/. - c.280A>G r.(?) p.(Ile94Val) Both (homozygous) - likely benign g.202626437T>C g.201761714T>C - - ALS2_000041 5 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3219154 Germline - 5/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
-?/. - c.283A>C r.(?) p.(Thr95Pro) Unknown - likely benign g.202626434T>G g.201761711T>G ALS2(NM_020919.4):c.283A>C (p.T95P) - ALS2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.326A>G r.(?) p.(Asn109Ser) Unknown - likely benign g.202626391T>C g.201761668T>C ALS2(NM_020919.3):c.326A>G (p.N109S), ALS2(NM_020919.4):c.326A>G (p.N109S) - ALS2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.326A>G r.(?) p.(Asn109Ser) Unknown - likely benign g.202626391T>C - ALS2(NM_020919.3):c.326A>G (p.N109S), ALS2(NM_020919.4):c.326A>G (p.N109S) - ALS2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.331G>A r.(?) p.(Val111Ile) Unknown - VUS g.202626386C>T g.201761663C>T ALS2(NM_020919.3):c.331G>A (p.V111I) - ALS2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.339C>T r.(?) p.(Tyr113=) Unknown - likely benign g.202626378G>A g.201761655G>A ALS2(NM_020919.4):c.339C>T (p.Y113=) - ALS2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.347G>A r.(?) p.(Gly116Glu) Unknown - pathogenic g.202626370C>T - ALS2(NM_020919.3):c.347G>A (p.(Gly116Glu)) - ALS2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.368G>A r.(?) p.(Cys123Tyr) Both (homozygous) - pathogenic g.202626349C>T g.201761626C>T - - ALS2_000002 - - - - Germline yes - - - - DNA SEQ, SEQ-NG-I - - SPG - - family, 4 homozygous affecteds (3 siblings, cousin), 5 unaffected heterozygous carriers (incl. parents of all patients), not present in one healthy sibling M yes (France);Sudan - - - yes - 4 Mahmoud Koko
-?/. - c.384G>C r.(?) p.(Gln128His) Unknown - likely benign g.202626333C>G g.201761610C>G ALS2(NM_020919.4):c.384G>C (p.Q128H) - ALS2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.475G>A r.(?) p.(Glu159Lys) Unknown - likely benign g.202626242C>T g.201761519C>T ALS2(NM_020919.4):c.475G>A (p.E159K) - ALS2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.533G>T r.(?) p.(Cys178Phe) Unknown - VUS g.202626184C>A - ALS2(NM_020919.4):c.533G>T (p.C178F) - ALS2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.812A>G r.(?) p.(His271Arg) Unknown - likely benign g.202625905T>C g.201761182T>C ALS2(NM_020919.4):c.812A>G (p.H271R) - ALS2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.861A>G r.(?) p.(Glu287=) Unknown - likely benign g.202625856T>C - ALS2(NM_020919.3):c.861A>G (p.E287=) - ALS2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.880_881del r.(?) p.(Leu294CysfsTer4) Both (homozygous) - likely pathogenic g.202625838_202625839del g.201761115_201761116del c.880_881delCT - ALS2_000105 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2593 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-?/. - c.886G>A r.(?) p.(Ala296Thr) Unknown - likely benign g.202625831C>T - ALS2(NM_020919.3):c.886G>A (p.A296T), ALS2(NM_020919.4):c.886G>A (p.A296T) - ALS2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.886G>A r.(?) p.(Ala296Thr) Unknown - likely benign g.202625831C>T - ALS2(NM_020919.3):c.886G>A (p.A296T), ALS2(NM_020919.4):c.886G>A (p.A296T) - ALS2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.886G>A r.(?) p.(Ala296Thr) Unknown - likely benign g.202625831C>T - ALS2(NM_020919.3):c.886G>A (p.A296T), ALS2(NM_020919.4):c.886G>A (p.A296T) - ALS2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1037A>G r.(?) p.(Asn346Ser) Unknown - likely benign g.202625680T>C - ALS2(NM_020919.3):c.1037A>G (p.N346S) - ALS2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1102G>A r.(?) p.(Val368Met) Unknown - benign g.202625615C>T g.201760892C>T ALS2(NM_020919.3):c.1102G>A (p.V368M), ALS2(NM_020919.4):c.1102G>A (p.V368M) - ALS2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1102G>A r.(?) p.(Val368Met) Unknown - benign g.202625615C>T g.201760892C>T ALS2(NM_020919.3):c.1102G>A (p.V368M), ALS2(NM_020919.4):c.1102G>A (p.V368M) - ALS2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1102G>A r.(?) p.(Val368Met) Unknown - benign g.202625615C>T g.201760892C>T ALS2(NM_020919.3):c.1102G>A (p.V368M), ALS2(NM_020919.4):c.1102G>A (p.V368M) - ALS2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1102G>A r.(?) p.(Val368Met) Unknown - benign g.202625615C>T g.201760892C>T ALS2(NM_020919.3):c.1102G>A (p.V368M), ALS2(NM_020919.4):c.1102G>A (p.V368M) - ALS2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1102G>A r.(?) p.(Val368Met) Unknown - benign g.202625615C>T g.201760892C>T ALS2(NM_020919.3):c.1102G>A (p.V368M), ALS2(NM_020919.4):c.1102G>A (p.V368M) - ALS2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1102G>A r.(?) p.(Val368Met) Unknown - benign g.202625615C>T g.201760892C>T ALS2(NM_020919.3):c.1102G>A (p.V368M), ALS2(NM_020919.4):c.1102G>A (p.V368M) - ALS2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1113+202T>G r.(=) p.(=) Unknown - benign g.202625402A>C g.201760679A>C ALS2(NM_001135745.2):c.*124T>G - ALS2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1114-19T>G r.(=) p.(=) Unknown - likely benign g.202622501A>C g.201757778A>C ALS2(NM_020919.4):c.1114-19T>G - ALS2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1115C>G r.(?) p.(Pro372Arg) Unknown - likely benign g.202622481G>C g.201757758G>C ALS2(NM_020919.3):c.1115C>G (p.P372R), ALS2(NM_020919.4):c.1115C>G (p.P372R) - ALS2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1115C>G r.(?) p.(Pro372Arg) Unknown - VUS g.202622481G>C g.201757758G>C ALS2(NM_020919.3):c.1115C>G (p.P372R), ALS2(NM_020919.4):c.1115C>G (p.P372R) - ALS2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1115C>G r.(?) p.(Pro372Arg) Unknown - likely benign g.202622481G>C - ALS2(NM_020919.3):c.1115C>G (p.P372R), ALS2(NM_020919.4):c.1115C>G (p.P372R) - ALS2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1115C>G r.(?) p.(Pro372Arg) Unknown - VUS g.202622481G>C - ALS2(NM_020919.3):c.1115C>G (p.P372R), ALS2(NM_020919.4):c.1115C>G (p.P372R) - ALS2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1472-20del r.(=) p.(=) Unknown - likely benign g.202619417del g.201754694del ALS2(NM_020919.4):c.1472-20delC - ALS2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1472-20del r.(=) p.(=) Unknown - likely benign g.202619417del - ALS2(NM_020919.4):c.1472-20delC - ALS2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1533C>T r.(?) p.(Pro511=) Unknown - likely benign g.202619333G>A g.201754610G>A ALS2(NM_020919.3):c.1533C>T (p.P511=) - ALS2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1548A>G r.(?) p.(Glu516=) Unknown - likely benign g.202619318T>C g.201754595T>C ALS2(NM_020919.3):c.1548A>G (p.E516=) - ALS2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1578A>G r.(?) p.(Thr526=) Unknown - likely benign g.202619288T>C g.201754565T>C ALS2(NM_020919.4):c.1578A>G (p.T526=) - ALS2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1584G>A r.(?) p.(Val528=) Unknown - likely benign g.202619282C>T g.201754559C>T - - ALS2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1627G>A r.(?) p.(Asp543Asn) Unknown - VUS g.202619239C>T - ALS2(NM_020919.3):c.1627G>A (p.D543N) - ALS2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1640+1G>A r.spl p.? Both (homozygous) - pathogenic g.202619225C>T g.201754502C>T - - ALS2_000057 - - - - Unknown - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 IMGAG
+/. - c.1640+1G>A r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.202619225C>T g.201754502C>T - - ALS2_000057 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M9000066 PubMed: Hu 2019 family, 4 more affected individuals, first cousin parents - yes - Arab - - - - 4 Johan den Dunnen
-?/. - c.1641G>A r.(?) p.(Arg547=) Unknown - likely benign g.202617965C>T g.201753242C>T ALS2(NM_020919.3):c.1641G>A (p.R547=), ALS2(NM_020919.4):c.1641G>A (p.R547=) - ALS2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1641G>A r.(?) p.(Arg547=) Unknown - likely benign g.202617965C>T g.201753242C>T ALS2(NM_020919.3):c.1641G>A (p.R547=), ALS2(NM_020919.4):c.1641G>A (p.R547=) - ALS2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1649C>T r.(?) p.(Pro550Leu) Unknown - VUS g.202617957G>A g.201753234G>A - - ALS2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1677A>G r.(?) p.(Lys559=) Unknown - likely benign g.202617929T>C g.201753206T>C ALS2(NM_020919.3):c.1677A>G (p.K559=), ALS2(NM_020919.4):c.1677A>G (p.K559=) - ALS2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1677A>G r.(?) p.(Lys559=) Unknown - likely benign g.202617929T>C g.201753206T>C ALS2(NM_020919.3):c.1677A>G (p.K559=), ALS2(NM_020919.4):c.1677A>G (p.K559=) - ALS2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1677A>G r.(?) p.(Lys559=) Unknown - likely benign g.202617929T>C g.201753206T>C ALS2(NM_020919.3):c.1677A>G (p.K559=), ALS2(NM_020919.4):c.1677A>G (p.K559=) - ALS2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1737+1G>A r.spl? p.? Unknown - pathogenic g.202617868C>T g.201753145C>T - - ALS2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1737+34T>A r.(=) p.(=) Unknown - likely benign g.202617835A>T g.201753112A>T ALS2(NM_020919.4):c.1737+34T>A - ALS2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1782C>T r.(?) p.(Ser594=) Unknown - likely benign g.202614468G>A g.201749745G>A ALS2(NM_020919.4):c.1782C>T (p.S594=) - ALS2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1816-8C>T r.(=) p.(=) Unknown - likely benign g.202611479G>A g.201746756G>A ALS2(NM_020919.3):c.1816-8C>T, ALS2(NM_020919.4):c.1816-8C>T - ALS2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1816-8C>T r.(=) p.(=) Unknown - likely benign g.202611479G>A g.201746756G>A ALS2(NM_020919.3):c.1816-8C>T, ALS2(NM_020919.4):c.1816-8C>T - ALS2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1816-8C>T r.(=) p.(=) Unknown - benign g.202611479G>A g.201746756G>A ALS2(NM_020919.3):c.1816-8C>T, ALS2(NM_020919.4):c.1816-8C>T - ALS2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1887A>G r.(?) p.(Glu629=) Unknown - likely benign g.202611400T>C g.201746677T>C ALS2(NM_020919.3):c.1887A>G (p.E629=) - ALS2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1919G>A r.(?) p.(Arg640Gln) Unknown - likely benign g.202611368C>T g.201746645C>T ALS2(NM_020919.4):c.1919G>A (p.R640Q) - ALS2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2048T>C r.(?) p.(Leu683Ser) Unknown - VUS g.202609103A>G - ALS2(NM_020919.3):c.2048T>C (p.L683S) - ALS2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2088C>T r.(?) p.(His696=) Unknown - likely benign g.202609063G>A - ALS2(NM_020919.3):c.2088C>T (p.H696=) - ALS2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2143C>T r.(?) p.(Gln715Ter) Unknown - pathogenic g.202609008G>A g.201744285G>A - - ALS2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2171-3T>G r.(2170_2171insag,=) p.(Asn725GlufsTer16,=) Both (homozygous) - VUS g.202606580A>C g.201741857A>C - - ALS2_000114 ACMG PP1, PP3, PP4, PM2 PubMed: Saadi 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamDPatV1 PubMed: Saadi 2023 5-generation family, 3 affected (F, 2M), unaffected heterozygous parents/relatives M yes Pakistan - - - - - 3 Johan den Dunnen
?/. - c.2171-3T>G r.(2170_2171insag,=) p.(Asn725GlufsTer16,=) Both (homozygous) - VUS g.202606580A>C g.201741857A>C - - ALS2_000114 ACMG PP1, PP3, PP4, PM2 PubMed: Saadi 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamDPatV5 PubMed: Saadi 2023 brother M yes Pakistan - - - - - 1 Johan den Dunnen
-?/. - c.2241C>T r.(?) p.(Tyr747=) Unknown - likely benign g.202606507G>A g.201741784G>A ALS2(NM_020919.3):c.2241C>T (p.Y747=), ALS2(NM_020919.4):c.2241C>T (p.Y747=) - ALS2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2241C>T r.(?) p.(Tyr747=) Unknown - likely benign g.202606507G>A g.201741784G>A ALS2(NM_020919.3):c.2241C>T (p.Y747=), ALS2(NM_020919.4):c.2241C>T (p.Y747=) - ALS2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2241C>T r.(?) p.(Tyr747=) Unknown - likely benign g.202606507G>A - ALS2(NM_020919.3):c.2241C>T (p.Y747=), ALS2(NM_020919.4):c.2241C>T (p.Y747=) - ALS2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2341A>G r.(?) p.(Ser781Gly) Unknown - VUS g.202606407T>C g.201741684T>C - - ALS2_000112 no 2nd variant of interest detected in ALS2 - - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - ALS - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
+?/. - c.2359A>C r.(?) p.(Thr787Pro) Unknown - VUS g.202603451T>G g.201738728T>G - - ALS2_000095 - PubMed: Zhu 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ? Trio5 PubMed: Zhu 2015 - M - Israel - - - - - 1 Johan den Dunnen
-/. - c.2466G>A r.(?) p.(Val822=) Unknown - benign g.202598113C>T g.201733390C>T ALS2(NM_020919.3):c.2466G>A (p.V822=), ALS2(NM_020919.4):c.2466G>A (p.V822=) - ALS2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2466G>A r.(?) p.(Val822=) Unknown - benign g.202598113C>T g.201733390C>T ALS2(NM_020919.3):c.2466G>A (p.V822=), ALS2(NM_020919.4):c.2466G>A (p.V822=) - ALS2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2466G>A r.(?) p.(Val822=) Unknown - benign g.202598113C>T g.201733390C>T ALS2(NM_020919.3):c.2466G>A (p.V822=), ALS2(NM_020919.4):c.2466G>A (p.V822=) - ALS2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2466G>A r.(?) p.(Val822=) Unknown - benign g.202598113C>T g.201733390C>T ALS2(NM_020919.3):c.2466G>A (p.V822=), ALS2(NM_020919.4):c.2466G>A (p.V822=) - ALS2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2466G>A r.(?) p.(Val822=) Unknown - benign g.202598113C>T g.201733390C>T ALS2(NM_020919.3):c.2466G>A (p.V822=), ALS2(NM_020919.4):c.2466G>A (p.V822=) - ALS2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2466G>A r.(?) p.(Val822=) Unknown - benign g.202598113C>T g.201733390C>T ALS2(NM_020919.3):c.2466G>A (p.V822=), ALS2(NM_020919.4):c.2466G>A (p.V822=) - ALS2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2479A>T r.(?) p.(Thr827Ser) Unknown - likely benign g.202598100T>A g.201733377T>A ALS2(NM_020919.3):c.2479A>T (p.T827S), ALS2(NM_020919.4):c.2479A>T (p.T827S) - ALS2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2479A>T r.(?) p.(Thr827Ser) Unknown - likely benign g.202598100T>A g.201733377T>A ALS2(NM_020919.3):c.2479A>T (p.T827S), ALS2(NM_020919.4):c.2479A>T (p.T827S) - ALS2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2479A>T r.(?) p.(Thr827Ser) Unknown - likely benign g.202598100T>A - ALS2(NM_020919.3):c.2479A>T (p.T827S), ALS2(NM_020919.4):c.2479A>T (p.T827S) - ALS2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2528G>A r.(?) p.(Arg843Gln) Unknown - likely benign g.202598051C>T g.201733328C>T ALS2(NM_020919.4):c.2528G>A (p.R843Q) - ALS2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2574T>A r.(?) p.(Phe858Leu) Unknown - likely benign g.202598005A>T g.201733282A>T ALS2(NM_020919.3):c.2574T>A (p.(Phe858Leu)) - ALS2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2581-24del r.(=) p.(=) Unknown - benign g.202593942del g.201729219del ALS2(NM_020919.4):c.2581-24delT - ALS2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2581-22del r.(=) p.(=) Unknown - likely benign g.202593929del g.201729206del ALS2(NM_020919.4):c.2581-22delC - ALS2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2581-20C>T r.(=) p.(=) Unknown - likely benign g.202593926G>A g.201729203G>A ALS2(NM_020919.4):c.2581-20C>T - ALS2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2651G>A r.(?) p.(Arg884Lys) Unknown - likely benign g.202593836C>T - ALS2(NM_020919.3):c.2651G>A (p.R884K) - ALS2_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2681G>A r.(?) p.(Gly894Asp) Unknown - VUS g.202593806C>T - ALS2(NM_020919.4):c.2681G>A (p.G894D) - ALS2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2712G>A r.(?) p.(Thr904=) Unknown - VUS g.202593775C>T g.201729052C>T ALS2(NM_020919.3):c.2712G>A (p.T904=), ALS2(NM_020919.4):c.2712G>A (p.T904=) - ALS2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2712G>A r.(?) p.(Thr904=) Unknown - VUS g.202593775C>T g.201729052C>T ALS2(NM_020919.3):c.2712G>A (p.T904=), ALS2(NM_020919.4):c.2712G>A (p.T904=) - ALS2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2796C>T r.(?) p.(Ser932=) Unknown - benign g.202593280G>A g.201728557G>A ALS2(NM_020919.3):c.2796C>T (p.S932=), ALS2(NM_020919.4):c.2796C>T (p.S932=) - ALS2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2796C>T r.(?) p.(Ser932=) Unknown - benign g.202593280G>A g.201728557G>A ALS2(NM_020919.3):c.2796C>T (p.S932=), ALS2(NM_020919.4):c.2796C>T (p.S932=) - ALS2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2796C>T r.(?) p.(Ser932=) Unknown - benign g.202593280G>A g.201728557G>A ALS2(NM_020919.3):c.2796C>T (p.S932=), ALS2(NM_020919.4):c.2796C>T (p.S932=) - ALS2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2796C>T r.(?) p.(Ser932=) Unknown - benign g.202593280G>A g.201728557G>A ALS2(NM_020919.3):c.2796C>T (p.S932=), ALS2(NM_020919.4):c.2796C>T (p.S932=) - ALS2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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