ALS2CL — 175 ClinVar variants

All ClinVar germline ALS2CL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 138 flagged for review →

1 Conflicting · 30 Likely benign · 144 Uncertain significance

Full ALS2CL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 138

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

ALS2CL p.Arg738Cys Conflicting Single submitter

Predictors lean, ClinVar uncertain 119

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 18

The independent predictors disagree with each other — read with care.

All ALS2CL variants

Conflicting classifications of pathogenicity 1

p.Arg738Cys Single submitter ⚠

Likely benign 30

c.104-5C>T Single submitter
c.1274+15C>G Single submitter
c.1274+18G>A Single submitter
c.1758-4G>A Single submitter
c.1932-16T>C Single submitter
c.2256-14G>T Single submitter
c.2472+13C>T Single submitter
c.2472+9G>A Single submitter
c.2534+14G>T Single submitter
c.535-19C>T Single submitter
p.Ala148Thr Single submitter
p.Ala159Thr Single submitter
p.Ala244Thr Single submitter
p.Ala318Val Single submitter
p.Ala701= Single submitter
p.Arg183Gln Single submitter
p.Arg48Gln Single submitter
p.Arg616= Single submitter
p.Arg634Cys Single submitter
p.Arg733Gln Single submitter
p.Cys642= Single submitter
p.Glu65Ter Single submitter
p.Gly173= Single submitter
p.Gly558Ser Single submitter
p.Pro290= Single submitter
p.Ser17= Single submitter
p.Ser70= Single submitter
p.Thr460= Single submitter
p.Thr515Met Single submitter
p.Tyr861= Single submitter

Uncertain significance 144

p.Ala207Ser Single submitter ⚠
p.Ala212Thr Single submitter ⚠
p.Ala343Thr Single submitter ⚠
p.Ala35Val Single submitter ⚠
p.Ala512Val Single submitter ⚠
p.Ala701Thr Single submitter ⚠
p.Ala713Thr Single submitter ⚠
p.Arg11Trp Single submitter ⚠
p.Arg127Gln Single submitter ⚠
p.Arg127Trp Single submitter ⚠
p.Arg130Trp Single submitter ⚠
p.Arg134Trp Single submitter ⚠
p.Arg183Pro Single submitter ⚠
p.Arg247Trp Single submitter ⚠
p.Arg250His Single submitter ⚠
p.Arg341Cys Single submitter ⚠
p.Arg341His Single submitter ⚠
p.Arg352Gln Single submitter ⚠
p.Arg364Lys Single submitter ⚠
p.Arg366Trp Single submitter ⚠
p.Arg379Trp Single submitter ⚠
p.Arg396Cys Single submitter ⚠
p.Arg441Trp Single submitter ⚠
p.Arg482Cys Single submitter ⚠
p.Arg492Cys Single submitter ⚠
p.Arg598Cys Single submitter ⚠
p.Arg607Gln Single submitter ⚠
p.Arg631Gly Single submitter ⚠
p.Arg690Gln Single submitter ⚠
p.Arg690Trp Single submitter ⚠
p.Arg738His Single submitter ⚠
p.Arg74Ser Single submitter ⚠
p.Arg76His Single submitter ⚠
p.Arg874Trp Single submitter ⚠
p.Arg893Cys Single submitter
p.Arg90Gln Single submitter ⚠
p.Arg94Cys Single submitter ⚠
p.Arg94His Single submitter ⚠
p.Asn24Asp Single submitter ⚠
p.Asn384Ser Single submitter ⚠
p.Asn3Lys Single submitter ⚠
p.Asn913Ser Single submitter ⚠
p.Asp205His Single submitter ⚠
p.Asp536Glu Single submitter ⚠
p.Asp626Asn Single submitter ⚠
p.Asp649Asn Single submitter ⚠
p.Asp817Glu Single submitter ⚠
p.Cys109Tyr Single submitter ⚠
p.Cys297Ser Single submitter ⚠
p.Cys2Gly Single submitter ⚠
p.Cys386Phe Single submitter ⚠
p.Cys833Gly Single submitter
p.Gln156His Single submitter ⚠
p.Gln452Arg Single submitter ⚠
p.Gln452Pro Single submitter ⚠
p.Gln488Lys Single submitter ⚠
p.Gln491Arg Single submitter ⚠
p.Gln52Arg Single submitter ⚠
p.Gln714Leu Single submitter ⚠
p.Glu184Gln Single submitter ⚠
p.Glu203Lys Single submitter ⚠
p.Glu361Lys Single submitter ⚠
p.Glu45Ala Single submitter ⚠
p.Glu632Lys Single submitter ⚠
p.Glu655Lys Single submitter ⚠
p.Glu711Lys Single submitter ⚠
p.Glu723Lys Single submitter ⚠
p.Glu875Gln Single submitter ⚠
p.Glu951Val Single submitter ⚠
p.Gly151Ser Single submitter ⚠
p.Gly263Asp Single submitter ⚠
p.Gly331Ser Single submitter ⚠
p.Gly369Ser Single submitter ⚠
p.Gly394Ser Single submitter
p.Gly43Ser Single submitter ⚠
p.Gly443Arg Single submitter ⚠
p.Gly494Cys Single submitter ⚠
p.Gly494Ser Single submitter ⚠
p.Gly550Ser Single submitter ⚠
p.Gly555Ser Single submitter ⚠
p.Gly564Arg Single submitter ⚠
p.Gly589Asp Single submitter
p.Gly652Asp Single submitter ⚠
p.Gly704Arg Single submitter ⚠
p.Gly862Arg Single submitter ⚠
p.Gly916Glu Single submitter ⚠
p.His316Gln Single submitter ⚠
p.His566Arg Single submitter ⚠
p.His941Arg Single submitter ⚠
p.Ile844Asn Single submitter
p.Leu288Phe Single submitter ⚠
p.Leu763Phe Single submitter ⚠
p.Leu940Pro Single submitter ⚠
p.Lys120Asn Single submitter ⚠
p.Lys299Arg Single submitter ⚠
p.Lys668Arg Single submitter ⚠
p.Lys832Glu Single submitter ⚠
p.Met693Ile Single submitter ⚠
p.Met693Leu Single submitter ⚠
p.Met764Lys Single submitter ⚠
p.Met909Ile Single submitter ⚠
p.Phe436Val Single submitter ⚠
p.Pro30His Single submitter ⚠
p.Pro376Leu Single submitter ⚠
p.Pro454Leu Single submitter ⚠
p.Pro518Leu Single submitter ⚠
p.Pro578Ala Single submitter ⚠
p.Pro615Thr Single submitter ⚠
p.Pro667Ser Single submitter ⚠
p.Pro762Ser Single submitter ⚠
p.Ser145Leu Single submitter ⚠
p.Ser171Arg Single submitter ⚠
p.Ser39Leu Single submitter ⚠
p.Ser581Asn Single submitter ⚠
p.Ser636Phe Single submitter ⚠
p.Ser869Ala Single submitter ⚠
p.Thr175Ser Single submitter ⚠
p.Thr284Pro Single submitter ⚠
p.Thr289Met Single submitter ⚠
p.Thr500Asn Single submitter ⚠
p.Thr532Asn Single submitter ⚠
p.Thr64Met Single submitter ⚠
p.Thr749Arg Single submitter ⚠
p.Thr751Lys Single submitter ⚠
p.Thr819Met Single submitter ⚠
p.Thr81Ala Single submitter ⚠
p.Thr821Met Single submitter ⚠
p.Thr846Ile Single submitter ⚠
p.Thr847Met Single submitter ⚠
p.Thr860_Tyr861insTer Single submitter
p.Thr867Pro Single submitter
p.Thr915Ala Single submitter ⚠
p.Thr915Arg Single submitter ⚠
p.Trp309Arg Single submitter ⚠
p.Trp463Arg Single submitter ⚠
p.Tyr919Cys Single submitter ⚠
p.Val166Met Single submitter ⚠
p.Val327Leu Single submitter ⚠
p.Val327Met Single submitter ⚠
p.Val382Met Single submitter ⚠
p.Val446Ile Single submitter ⚠
p.Val595Met Single submitter ⚠
p.Val627Leu Single submitter ⚠
p.Val627Met Single submitter ⚠