UBQLN2 — 242 ClinVar variants
All ClinVar germline UBQLN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 126 flagged for review →
3 Pathogenic · 4 Likely pathogenic · 17 Conflicting · 8 Benign · 4 Benign/Likely benign · 50 Likely benign · 156 Uncertain significance
Full UBQLN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 126
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 vs ClinVar 3
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
- UBQLN2 p.Met392Val Likely pathogenic Single submitter
-
UBQLN2 p.Pro497Ser
Pathogenic
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Pro555Ser
Likely pathogenic
Single submitter
amyotrophic lateral sclerosis type 15
Predictors agree, ClinVar conflicts 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
UBQLN2 p.Ala542Ser
Conflicting
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ala572Val
Conflicting
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Asn348Ser
Conflicting
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Gln109His
Conflicting
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Gly120Ala
Conflicting
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Pro525Ser
Conflicting
Single submitter
amyotrophic lateral sclerosis
-
UBQLN2 p.Ser340Ile
Conflicting
Single submitter
UBQLN2-related disorder
-
UBQLN2 p.Thr547Met
Conflicting
Single submitter
amyotrophic lateral sclerosis type 15
Predictors lean, ClinVar uncertain 91
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
UBQLN2 p.Ala26Ser
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ala361Thr
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ala523Val
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Arg270Cys
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Asn122Asp
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Asp85His
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Gly554Val
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.His93Arg
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Pro323Leu
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Pro440Leu
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 15
- UBQLN2 p.Pro440Thr Uncertain significance Multiple submitters
-
UBQLN2 p.Pro525Ala
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Thr123Ser
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ala19Val
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ala242Ser
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ala283Thr
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ala28Pro
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ala2Ser
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ala407Ser
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ala572Thr
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ala60Val
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Arg107Gln
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Arg270Leu
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Arg313His
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Arg597Cys
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Asn117Ser
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
- UBQLN2 p.Asn139His Uncertain significance Single submitter
-
UBQLN2 p.Asn344Ser
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
- UBQLN2 p.Asp70Asn Uncertain significance Single submitter
- UBQLN2 p.Gln114Arg Uncertain significance Single submitter
-
UBQLN2 p.Gln286Arg
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
- UBQLN2 p.Gln327His Uncertain significance Single submitter
- UBQLN2 p.Gln557Glu Uncertain significance Single submitter
-
UBQLN2 p.Gln574His
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Glu598Asp
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Gly144Glu
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Gly302Arg
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
- UBQLN2 p.Gly339Val Uncertain significance Single submitter
-
UBQLN2 p.Gly343Asp
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
- UBQLN2 p.Gly499Asp Uncertain significance Single submitter
-
UBQLN2 p.Gly531Arg
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Gly532Asp
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ile376Val
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
- UBQLN2 p.Ile473Val Uncertain significance Single submitter
-
UBQLN2 p.Ile501Met
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ile504Met
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ile513Asn
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
- UBQLN2 p.Leu316Pro Uncertain significance Single submitter
- UBQLN2 p.Leu382Gln Uncertain significance Single submitter
-
UBQLN2 p.Pro17Ser
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Pro228Gln
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
- UBQLN2 p.Pro27Leu Uncertain significance Single submitter
-
UBQLN2 p.Pro494Leu
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Pro497Arg
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Pro509Ser
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Pro525Leu
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Pro576Gln
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
- UBQLN2 p.Ser131Gly Uncertain significance Single submitter
-
UBQLN2 p.Ser147Ile
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ser155Asn
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ser260Asn
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ser297Asn
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ser301Pro
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ser347Asn
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ser347Gly
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ser362Asn
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ser365Thr
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ser371Asn
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ser400Gly
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
- UBQLN2 p.Ser444Leu Uncertain significance Single submitter
-
UBQLN2 p.Ser475Gly
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ser527Pro
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
- UBQLN2 p.Ser540Asn Uncertain significance Single submitter
- UBQLN2 p.Ser540Thr Uncertain significance Single submitter
-
UBQLN2 p.Ser7Arg
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
- UBQLN2 p.Thr113Ala Uncertain significance Single submitter
-
UBQLN2 p.Thr134Ile
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Thr326Ile
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Thr335Ser
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Thr338Ile
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Thr350Ile
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Thr496Ala
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Thr508Ala
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Thr508Asn
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
- UBQLN2 p.Thr519Ala Uncertain significance Single submitter
-
UBQLN2 p.Val354Ile
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Val354Leu
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Val492Leu
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Gln68Glu
Uncertain significance
No assertion criteria
UBQLN2-related disorder
-
UBQLN2 p.Ile102Val
Uncertain significance
No assertion criteria
vascular dementia
-
UBQLN2 p.Met456Val
Uncertain significance
No assertion criteria
UBQLN2-related disorder
Predictors split 24
The independent predictors disagree with each other — read with care.
-
UBQLN2 p.Ala282Thr
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Gln425Arg
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ser346Cys
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Ala282Val
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
- UBQLN2 p.Arg581Lys Uncertain significance Single submitter
- UBQLN2 p.Arg64Gly Uncertain significance Single submitter
- UBQLN2 p.Gly368Val Uncertain significance Single submitter
-
UBQLN2 p.Gly620Arg
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Leu455Phe
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
- UBQLN2 p.Met206Arg Uncertain significance Single submitter
-
UBQLN2 p.Phe433Ser
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Phe433Val
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Phe57Leu
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
- UBQLN2 p.Pro142Gln Uncertain significance Single submitter
-
UBQLN2 p.Pro440Ser
Conflicting
Single submitter
amyotrophic lateral sclerosis type 15
- UBQLN2 p.Pro474Leu Uncertain significance Single submitter
-
UBQLN2 p.Pro578Leu
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
- UBQLN2 p.Ser539Cys Uncertain significance Single submitter
- UBQLN2 p.Thr305Met Uncertain significance Single submitter
-
UBQLN2 p.Thr334Met
Likely benign
Single submitter
amyotrophic lateral sclerosis type 15
- UBQLN2 p.Thr336Ile Uncertain significance Single submitter
-
UBQLN2 p.Thr464Ile
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Thr534Met
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
-
UBQLN2 p.Tyr272His
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 15
All UBQLN2 variants
Pathogenic 3
- p.Pro497His Multiple submitters amyotrophic lateral sclerosis type 15
- p.Pro497Ser Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Pro506Thr Single submitter amyotrophic lateral sclerosis type 15
Likely pathogenic 4
- p.Met392Val Single submitter ⚠
- p.Pro497Leu Single submitter amyotrophic lateral sclerosis type 15
- p.Pro506Leu Single submitter UBQLN2-related disorder
- p.Pro555Ser Single submitter amyotrophic lateral sclerosis type 15 ⚠
Conflicting classifications of pathogenicity 17
- p.499GPI[1] Single submitter amyotrophic lateral sclerosis type 15
- p.Ala47= Single submitter amyotrophic lateral sclerosis type 15
- p.Ala542Ser Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ala572Val Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Asn348Ser Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Gln109His Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Gly120Ala Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Gly532= Single submitter amyotrophic lateral sclerosis type 15
- p.Leu81= Single submitter amyotrophic lateral sclerosis type 15
- p.Pro440Ser Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Pro474Ala Single submitter
- p.Pro506Ser Single submitter amyotrophic lateral sclerosis type 15
- p.Pro525Ser Single submitter amyotrophic lateral sclerosis ⚠
- p.Ser340Ile Single submitter UBQLN2-related disorder ⚠
- p.Thr487= Single submitter amyotrophic lateral sclerosis type 15
- p.Thr508= Single submitter
- p.Thr547Met Single submitter amyotrophic lateral sclerosis type 15 ⚠
Benign 8
- p.Ser193= Multiple submitters amyotrophic lateral sclerosis type 15
- p.Ala488= Single submitter amyotrophic lateral sclerosis type 15
- p.Arg239= Single submitter amyotrophic lateral sclerosis type 15
- p.Gln584His Single submitter amyotrophic lateral sclerosis type 15
- p.Pro17= Single submitter amyotrophic lateral sclerosis type 15
- p.Pro278= Single submitter amyotrophic lateral sclerosis type 15
- p.Pro578= Single submitter amyotrophic lateral sclerosis type 15
- p.Tyr391= Single submitter amyotrophic lateral sclerosis type 15
Benign/Likely benign 4
Likely benign 50
- c.*1258C>T Multiple submitters amyotrophic lateral sclerosis type 15
- p.Ala523= Multiple submitters amyotrophic lateral sclerosis type 15
- p.Glu50= Multiple submitters amyotrophic lateral sclerosis type 15
- p.Phe65= Multiple submitters amyotrophic lateral sclerosis type 15
- p.Ala126= Single submitter
- p.Ala356= Single submitter amyotrophic lateral sclerosis type 15
- p.Ala469= Single submitter amyotrophic lateral sclerosis type 15
- p.Ala566= Single submitter amyotrophic lateral sclerosis type 15
- p.Ala606= Single submitter
- p.Asn227= Single submitter
- p.Asn590= Single submitter amyotrophic lateral sclerosis type 15
- p.Gln55= Single submitter amyotrophic lateral sclerosis type 15
- p.Gln584= Single submitter
- p.Gly343= Single submitter
- p.Gly351= Single submitter amyotrophic lateral sclerosis type 15
- p.Gly479= Single submitter
- p.Gly569= Single submitter amyotrophic lateral sclerosis type 15
- p.Gly593= Single submitter amyotrophic lateral sclerosis type 15
- p.Ile88= Single submitter
- p.Leu148= Single submitter
- p.Leu154= Single submitter amyotrophic lateral sclerosis type 15
- p.Leu253= Single submitter amyotrophic lateral sclerosis type 15
- p.Leu443= Single submitter amyotrophic lateral sclerosis type 15
- p.Leu472= Single submitter amyotrophic lateral sclerosis type 15
- p.Leu485= Single submitter amyotrophic lateral sclerosis type 15
- p.Leu586= Single submitter amyotrophic lateral sclerosis type 15
- p.Leu618= Single submitter amyotrophic lateral sclerosis type 15
- p.Phe46= Single submitter amyotrophic lateral sclerosis type 15
- p.Pro11= Single submitter amyotrophic lateral sclerosis type 15
- p.Pro13= Single submitter amyotrophic lateral sclerosis type 15
- p.Pro323= Single submitter amyotrophic lateral sclerosis type 15
- p.Pro380= Single submitter amyotrophic lateral sclerosis type 15
- p.Pro474= Single submitter amyotrophic lateral sclerosis type 15
- p.Pro573= Single submitter amyotrophic lateral sclerosis type 15
- p.Ser133= Single submitter amyotrophic lateral sclerosis type 15
- p.Ser299= Single submitter
- p.Ser300= Single submitter amyotrophic lateral sclerosis type 15
- p.Ser337= Single submitter amyotrophic lateral sclerosis type 15
- p.Ser388= Single submitter
- p.Ser53= Single submitter amyotrophic lateral sclerosis type 15
- p.Ser62= Single submitter amyotrophic lateral sclerosis type 15
- p.Ser624= Single submitter amyotrophic lateral sclerosis type 15
- p.Thr305= Single submitter amyotrophic lateral sclerosis type 15
- p.Thr334Met Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Thr528= Single submitter amyotrophic lateral sclerosis type 15
- p.Thr534= Single submitter amyotrophic lateral sclerosis type 15
- p.Val48= Single submitter
- p.Pro576= No assertion criteria UBQLN2-related disorder
- p.Ser116= No assertion criteria UBQLN2-related disorder
- p.Val37= No assertion criteria UBQLN2-related disorder
Uncertain significance 156
- p.Ala26Ser Multiple submitters amyotrophic lateral sclerosis type 15 ⚠
- p.Ala282Thr Multiple submitters amyotrophic lateral sclerosis type 15 ⚠
- p.Ala361Thr Multiple submitters amyotrophic lateral sclerosis type 15 ⚠
- p.Ala523Val Multiple submitters amyotrophic lateral sclerosis type 15 ⚠
- p.Arg270Cys Multiple submitters amyotrophic lateral sclerosis type 15 ⚠
- p.Asn122Asp Multiple submitters amyotrophic lateral sclerosis type 15 ⚠
- p.Asp85His Multiple submitters amyotrophic lateral sclerosis type 15 ⚠
- p.Gln425Arg Multiple submitters amyotrophic lateral sclerosis type 15 ⚠
- p.Gly554Val Multiple submitters amyotrophic lateral sclerosis type 15 ⚠
- p.His93Arg Multiple submitters amyotrophic lateral sclerosis type 15 ⚠
- p.Pro323Leu Multiple submitters amyotrophic lateral sclerosis type 15 ⚠
- p.Pro440Leu Multiple submitters amyotrophic lateral sclerosis type 15 ⚠
- p.Pro440Thr Multiple submitters ⚠
- p.Pro525Ala Multiple submitters amyotrophic lateral sclerosis type 15 ⚠
- p.Ser346Cys Multiple submitters amyotrophic lateral sclerosis type 15 ⚠
- p.Thr123Ser Multiple submitters amyotrophic lateral sclerosis type 15 ⚠
- c.-159A>G Single submitter amyotrophic lateral sclerosis type 15
- c.-271G>C Single submitter amyotrophic lateral sclerosis type 15
- c.-272T>C Single submitter amyotrophic lateral sclerosis type 15
- c.-277A>C Single submitter amyotrophic lateral sclerosis type 15
- c.-4C>T Single submitter
- c.-54T>G Single submitter amyotrophic lateral sclerosis type 15
- c.*1171T>A Single submitter amyotrophic lateral sclerosis type 15
- c.*16T>C Single submitter amyotrophic lateral sclerosis type 15
- c.*41G>T Single submitter amyotrophic lateral sclerosis type 15
- c.*655A>C Single submitter amyotrophic lateral sclerosis type 15
- c.*661A>T Single submitter amyotrophic lateral sclerosis type 15
- c.*881A>G Single submitter amyotrophic lateral sclerosis type 15
- c.*905G>A Single submitter amyotrophic lateral sclerosis type 15
- p.510IGP[1] Single submitter amyotrophic lateral sclerosis type 15
- p.Ala19Val Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ala242Ser Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ala282= Single submitter amyotrophic lateral sclerosis type 15
- p.Ala282Val Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ala283Thr Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ala28Pro Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ala2Ser Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ala330= Single submitter amyotrophic lateral sclerosis type 15
- p.Ala407Ser Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ala572Thr Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ala60= Single submitter amyotrophic lateral sclerosis type 15
- p.Ala60Val Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Arg107Gln Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Arg270Leu Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Arg313His Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Arg427Gly Single submitter amyotrophic lateral sclerosis type 15
- p.Arg581Lys Single submitter ⚠
- p.Arg597Cys Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Arg64Gly Single submitter ⚠
- p.Asn117Ser Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Asn139His Single submitter ⚠
- p.Asn344Ser Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Asn419Asp Single submitter
- p.Asn571= Single submitter amyotrophic lateral sclerosis type 15
- p.Asp70Asn Single submitter ⚠
- p.Gln114Arg Single submitter ⚠
- p.Gln286Arg Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Gln327His Single submitter ⚠
- p.Gln401His Single submitter
- p.Gln423fs Single submitter amyotrophic lateral sclerosis type 15
- p.Gln425His Single submitter amyotrophic lateral sclerosis type 15
- p.Gln557Glu Single submitter ⚠
- p.Gln574His Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Gln588= Single submitter amyotrophic lateral sclerosis type 15
- p.Gln89His Single submitter
- p.Glu598Asp Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Gly144Glu Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Gly146= Single submitter amyotrophic lateral sclerosis type 15
- p.Gly302Arg Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Gly339Val Single submitter ⚠
- p.Gly343Asp Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Gly368= Single submitter amyotrophic lateral sclerosis type 15
- p.Gly368Val Single submitter ⚠
- p.Gly499Asp Single submitter ⚠
- p.Gly531Arg Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Gly532Asp Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Gly609= Single submitter amyotrophic lateral sclerosis type 15
- p.Gly620Arg Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ile275Leu Single submitter amyotrophic lateral sclerosis type 15
- p.Ile376Val Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ile473Val Single submitter ⚠
- p.Ile501Met Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ile504Met Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ile513Asn Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Leu145= Single submitter amyotrophic lateral sclerosis type 15
- p.Leu316Pro Single submitter ⚠
- p.Leu382= Single submitter amyotrophic lateral sclerosis type 15
- p.Leu382Gln Single submitter ⚠
- p.Leu455Phe Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Leu601= Single submitter amyotrophic lateral sclerosis type 15
- p.Leu96Met Single submitter amyotrophic lateral sclerosis type 15
- p.Met206Arg Single submitter ⚠
- p.Phe433Ser Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Phe433Val Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Phe57Leu Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Pro142Gln Single submitter ⚠
- p.Pro17Ser Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Pro228Gln Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Pro27Leu Single submitter ⚠
- p.Pro390= Single submitter amyotrophic lateral sclerosis type 15
- p.Pro474Leu Single submitter ⚠
- p.Pro494Leu Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Pro497Arg Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Pro500His Single submitter
- p.Pro509= Single submitter amyotrophic lateral sclerosis type 15
- p.Pro509Ser Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Pro525Leu Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Pro576Gln Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Pro578Leu Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ser131Gly Single submitter ⚠
- p.Ser147Ile Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ser155Asn Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ser165Phe Single submitter amyotrophic lateral sclerosis type 15
- p.Ser23= Single submitter amyotrophic lateral sclerosis type 15
- p.Ser260Asn Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ser294Phe Single submitter amyotrophic lateral sclerosis type 15
- p.Ser297Asn Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ser301Pro Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ser347Asn Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ser347Gly Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ser362Asn Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ser365Thr Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ser371Asn Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ser400Gly Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ser444Leu Single submitter ⚠
- p.Ser475Gly Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ser527Pro Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Ser539= Single submitter amyotrophic lateral sclerosis type 15
- p.Ser539Cys Single submitter ⚠
- p.Ser540Asn Single submitter ⚠
- p.Ser540Thr Single submitter ⚠
- p.Ser7Arg Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Thr113Ala Single submitter ⚠
- p.Thr134Ile Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Thr305Met Single submitter ⚠
- p.Thr326Ile Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Thr335Ser Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Thr336Ile Single submitter ⚠
- p.Thr338Ile Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Thr350Ile Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Thr464Ile Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Thr496Ala Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Thr508Ala Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Thr508Asn Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Thr519Ala Single submitter ⚠
- p.Thr528del Single submitter
- p.Thr534Met Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Tyr272His Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Val354Ile Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Val354Leu Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Val492Leu Single submitter amyotrophic lateral sclerosis type 15 ⚠
- p.Gln68Glu No assertion criteria UBQLN2-related disorder ⚠
- p.Gly486Ala No assertion criteria UBQLN2-related disorder
- p.Ile102Val No assertion criteria vascular dementia ⚠
- p.Ile501_Pro518del No assertion criteria UBQLN2-related disorder
- p.Met456Val No assertion criteria UBQLN2-related disorder ⚠