CHMP2B — 183 ClinVar variants
All ClinVar germline CHMP2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →
4 Pathogenic · 1 Likely pathogenic · 5 Conflicting · 18 Benign · 9 Benign/Likely benign · 38 Likely benign · 108 Uncertain significance
Full CHMP2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 73
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CHMP2B p.Thr104Asn
Pathogenic
No assertion criteria
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CHMP2B p.Arg69Gln
Conflicting
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
Predictors lean, ClinVar uncertain 44
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CHMP2B p.Arg205Gln
Uncertain significance
Multiple submitters
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Arg69Trp
Uncertain significance
Multiple submitters
CHMP2B-related disorder
-
CHMP2B p.Asn113Lys
Uncertain significance
Multiple submitters
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Asn143Ser
Uncertain significance
Multiple submitters
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Asp31Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHMP2B p.Ile29Val
Uncertain significance
Multiple submitters
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- CHMP2B p.Ile52Thr Uncertain significance Multiple submitters
-
CHMP2B p.Lys63Glu
Uncertain significance
Multiple submitters
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Thr83Ile
Uncertain significance
Multiple submitters
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Ala179Thr
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Arg186Gln
Uncertain significance
Single submitter
CHMP2B-related disorder
-
CHMP2B p.Arg22Gln
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Arg30Ser
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Arg32Gln
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Asn143Asp
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Asp148Tyr
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- CHMP2B p.Gln110Lys Uncertain significance Single submitter
- CHMP2B p.Gln41Glu Uncertain significance Single submitter
-
CHMP2B p.Gln71His
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Gly152Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHMP2B p.Gly211Ala
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Gly211Arg
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Gly23Ser
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Ile28Val
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Leu4Phe
Uncertain significance
Single submitter
amyotrophic lateral sclerosis
-
CHMP2B p.Lys180Glu
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Lys48Glu
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Lys59Arg
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- CHMP2B p.Lys7Asn Uncertain significance Single submitter
-
CHMP2B p.Lys90Glu
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- CHMP2B p.Met109Thr Uncertain significance Single submitter
-
CHMP2B p.Met125Thr
Uncertain significance
Single submitter
CHMP2B-related disorder
-
CHMP2B p.Met141Ile
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Met85Val
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Met96Thr
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Met98Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHMP2B p.Pro182Leu
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Thr108Ile
Uncertain significance
Single submitter
CHMP2B-related disorder
-
CHMP2B p.Thr197Ala
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Thr24Ile
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Val10Met
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Val13Ile
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Val66Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHMP2B p.Gly53Arg
Uncertain significance
No assertion criteria
vascular dementia
Predictors split 27
The independent predictors disagree with each other — read with care.
-
CHMP2B p.Arg205Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHMP2B p.Arg205Trp
Uncertain significance
Multiple submitters
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Lys59Glu
Uncertain significance
Multiple submitters
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Met141Val
Uncertain significance
Multiple submitters
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Ser194Leu
Uncertain significance
Multiple submitters
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Ala185Asp
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- CHMP2B p.Ala33Val Uncertain significance Single submitter
-
CHMP2B p.Arg19Gln
Conflicting
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Asn127Asp
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Asp11Val
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Asp12Glu
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Asp200Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CHMP2B p.Glu156Gly Uncertain significance Single submitter
-
CHMP2B p.Lys107Glu
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Lys55Gln
Likely benign
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Lys72Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHMP2B p.Lys72Gln
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Lys8Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHMP2B p.Lys8Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CHMP2B p.Met109Val Uncertain significance Single submitter
- CHMP2B p.Met125Val Uncertain significance Single submitter
-
CHMP2B p.Thr121Ile
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Thr73Met
Conflicting
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Thr9Ser
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Val13Glu
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Val78Leu
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
CHMP2B p.Asp11Gly
Uncertain significance
No assertion criteria
CHMP2B-related disorder
All CHMP2B variants
Pathogenic 4
- c.532-1G>C No assertion criteria frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Gln165Ter No assertion criteria frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Gln206His No assertion criteria frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Thr104Asn No assertion criteria frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
Likely pathogenic 1
- p.Gln206Pro Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
Conflicting classifications of pathogenicity 5
- c.531+8C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Arg19Gln Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Arg22Ter Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Arg69Gln Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Thr73Met Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
Benign 18
- p.Gln64= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Thr104= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Thr124= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Thr9= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.321+247del Single submitter
- c.322-299del Single submitter
- c.424+111G>C Single submitter
- c.*1071A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.*1190G>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.*1255G>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.*1376G>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.*1408A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.*1503G>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.*1588C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.*1610C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.*744C>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.*836T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.*864G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
Benign/Likely benign 9
- c.34+8C>T Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.35-7C>T Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.-102C>T Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.-151C>A Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.*1589G>A Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.*231T>C Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Leu122= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Ser183= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Ser187Asn Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7
Likely benign 38
- c.424+10A>G Multiple submitters CHMP2B-related disorder
- p.Arg30Gly Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Gln38= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Lys37= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Lys7= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Thr73= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.126+291_126+293del Single submitter
- c.127-273del Single submitter
- c.127-273dup Single submitter
- c.127-7C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.321+10A>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.321+6_321+7insA Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.34+14C>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.34+7T>A Single submitter
- c.35-4C>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.424+18T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.424+19_424+21del Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.424+20A>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.425-5C>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.531+14C>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.532-14A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.532-6A>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.*106dup Single submitter
- p.Ala185= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Asp151= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Asp155= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Glu136= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Glu158= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Lys130= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Lys55Gln Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Lys72= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Thr105= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Thr193= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Thr197= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Val60= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Val78= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Arg186Ter No assertion criteria CHMP2B-related disorder
- p.Ser84= No assertion criteria CHMP2B-related disorder
Uncertain significance 108
- c.126+4A>G Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.35-9T>G Multiple submitters
- p.Arg205Gln Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Arg205Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg205Trp Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Arg69Trp Multiple submitters CHMP2B-related disorder ⚠
- p.Asn113Lys Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Asn143Ser Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Asp31Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ile29Val Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Ile52Thr Multiple submitters ⚠
- p.Lys59Glu Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Lys63Glu Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Met141Val Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Ser194Leu Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Thr83Ile Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- c.321+1G>A Single submitter
- c.321+3A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.321+5G>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.34+6T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.35-264C>T Single submitter
- c.532-3T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.-144C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.-205C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.-34G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.-38C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.*1080C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.*121G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.*1414T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.*1421C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.*1422G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.*1482T>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.*1516C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.*1647A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.*602T>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.*626A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.*718C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.*901T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- c.*968G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Ala179fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Ala179Thr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Ala185Asp Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Ala33Val Single submitter ⚠
- p.Arg186Gln Single submitter CHMP2B-related disorder ⚠
- p.Arg19Ter Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Arg22Gln Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Arg30Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Arg32Gln Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Arg32Ter Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Asn127Asp Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Asn143Asp Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Asp11Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Asp12Glu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Asp148del Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Asp148Tyr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Asp200Asn Single submitter Inborn genetic diseases ⚠
- p.Gln110Lys Single submitter ⚠
- p.Gln126Ter Single submitter
- p.Gln41fs Single submitter CHMP2B-related disorder
- p.Gln41Glu Single submitter ⚠
- p.Gln71His Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Gln95Ter Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Glu156Gly Single submitter ⚠
- p.Gly152Ser Single submitter Inborn genetic diseases ⚠
- p.Gly211Ala Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Gly211Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Gly23Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Ile28Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Leu167Val Single submitter
- p.Leu4Phe Single submitter amyotrophic lateral sclerosis ⚠
- p.Leu68= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Lys107Glu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Lys114fs Single submitter
- p.Lys180Glu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Lys47Ter Single submitter
- p.Lys48Glu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Lys59Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Lys72Arg Single submitter Inborn genetic diseases ⚠
- p.Lys72Gln Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Lys7Asn Single submitter ⚠
- p.Lys8Gln Single submitter Inborn genetic diseases ⚠
- p.Lys8Thr Single submitter Inborn genetic diseases ⚠
- p.Lys90Glu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Met109Thr Single submitter ⚠
- p.Met109Val Single submitter ⚠
- p.Met125Thr Single submitter CHMP2B-related disorder ⚠
- p.Met125Val Single submitter ⚠
- p.Met141Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Met1Thr Single submitter
- p.Met85Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Met96Thr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Met98Thr Single submitter Inborn genetic diseases ⚠
- p.Pro182Leu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Ser183Ter Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Thr108Ile Single submitter CHMP2B-related disorder ⚠
- p.Thr121Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Thr197Ala Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Thr24Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Thr89fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- p.Thr9Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Val10Met Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Val13Glu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Val13Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Val66Met Single submitter Inborn genetic diseases ⚠
- p.Val78Leu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Asp11Gly No assertion criteria CHMP2B-related disorder ⚠
- p.Gln25Ter No assertion criteria CHMP2B-related disorder
- p.Gly53Arg No assertion criteria vascular dementia ⚠