CLUH — 218 ClinVar variants
All ClinVar germline CLUH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 200 flagged for review →
6 Benign · 12 Likely benign · 200 Uncertain significance
Full CLUH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 200
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 lean, ClinVar uncertain 122
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CLUH p.Ala1076Thr Uncertain significance Single submitter
- CLUH p.Ala1320Gly Uncertain significance Single submitter
- CLUH p.Ala282Thr Uncertain significance Single submitter
- CLUH p.Ala336Thr Uncertain significance Single submitter
- CLUH p.Ala365Val Uncertain significance Single submitter
- CLUH p.Ala377Thr Uncertain significance Single submitter
- CLUH p.Ala499Thr Uncertain significance Single submitter
- CLUH p.Ala671Thr Uncertain significance Single submitter
- CLUH p.Ala700Val Uncertain significance Single submitter
- CLUH p.Ala724Glu Uncertain significance Single submitter
- CLUH p.Ala724Thr Uncertain significance Single submitter
- CLUH p.Ala740Gly Uncertain significance Single submitter
- CLUH p.Ala743Ser Uncertain significance Single submitter
- CLUH p.Ala751Thr Uncertain significance Single submitter
- CLUH p.Ala751Val Uncertain significance Single submitter
- CLUH p.Ala787Ser Uncertain significance Single submitter
- CLUH p.Ala805Gly Uncertain significance Single submitter
- CLUH p.Ala878Val Uncertain significance Single submitter
- CLUH p.Ala900Thr Uncertain significance Single submitter
- CLUH p.Ala919Thr Uncertain significance Single submitter
- CLUH p.Arg1067Cys Uncertain significance Single submitter
- CLUH p.Arg235Gln Uncertain significance Single submitter
- CLUH p.Arg393Gln Uncertain significance Single submitter
- CLUH p.Arg418Thr Uncertain significance Single submitter
- CLUH p.Arg532Gln Uncertain significance Single submitter
- CLUH p.Arg606His Uncertain significance Single submitter
- CLUH p.Arg633His Uncertain significance Single submitter
- CLUH p.Arg819Gly Uncertain significance Single submitter
- CLUH p.Arg819His Uncertain significance Single submitter
- CLUH p.Arg826Cys Uncertain significance Single submitter
- CLUH p.Arg826His Uncertain significance Single submitter
- CLUH p.Arg837Gln Uncertain significance Single submitter
- CLUH p.Asn1041Ser Uncertain significance Single submitter
- CLUH p.Asn192His Uncertain significance Single submitter
- CLUH p.Asn244His Uncertain significance Single submitter
- CLUH p.Asn460Lys Uncertain significance Single submitter
- CLUH p.Asn909Lys Uncertain significance Single submitter
- CLUH p.Asp202Asn Uncertain significance Single submitter
- CLUH p.Asp426Gly Uncertain significance Single submitter
- CLUH p.Asp901Asn Uncertain significance Single submitter
- CLUH p.Asp948Asn Uncertain significance Single submitter
- CLUH p.Asp999Tyr Uncertain significance Single submitter
- CLUH p.Cys741Phe Uncertain significance Single submitter
- CLUH p.Gln243Pro Uncertain significance Single submitter
- CLUH p.Gln326Leu Uncertain significance Single submitter
- CLUH p.Gln668Glu Uncertain significance Single submitter
- CLUH p.Glu106Lys Uncertain significance Single submitter
- CLUH p.Glu1208Gln Uncertain significance Single submitter
- CLUH p.Glu1231Gln Uncertain significance Single submitter
- CLUH p.Glu158Lys Uncertain significance Single submitter
- CLUH p.Glu531Asp Uncertain significance Single submitter
- CLUH p.Glu652Gly Uncertain significance Single submitter
- CLUH p.Glu940Lys Uncertain significance Single submitter
- CLUH p.Gly1211Ser Uncertain significance Single submitter
- CLUH p.Gly1330Arg Uncertain significance Single submitter
- CLUH p.Gly272Arg Uncertain significance Single submitter
- CLUH p.Gly684Ser Uncertain significance Single submitter
- CLUH p.Gly711Ser Uncertain significance Single submitter
- CLUH p.Gly745Ser Uncertain significance Single submitter
- CLUH p.Gly75Ser Uncertain significance Single submitter
- CLUH p.His1223Tyr Uncertain significance Single submitter
- CLUH p.His552Asn Uncertain significance Single submitter
- CLUH p.His599Arg Uncertain significance Single submitter
- CLUH p.His862Arg Uncertain significance Single submitter
- CLUH p.Ile388Val Uncertain significance Single submitter
- CLUH p.Ile722Val Uncertain significance Single submitter
- CLUH p.Leu1144Val Uncertain significance Single submitter
- CLUH p.Leu1262Phe Uncertain significance Single submitter
- CLUH p.Leu298Val Uncertain significance Single submitter
- CLUH p.Leu415Phe Uncertain significance Single submitter
- CLUH p.Leu49Val Uncertain significance Single submitter
- CLUH p.Leu712Gln Uncertain significance Single submitter
- CLUH p.Leu790Val Uncertain significance Single submitter
- CLUH p.Leu832Val Uncertain significance Single submitter
- CLUH p.Leu884Val Uncertain significance Single submitter
- CLUH p.Leu933His Uncertain significance Single submitter
- CLUH p.Lys1198Ile Uncertain significance Single submitter
- CLUH p.Lys1290Arg Uncertain significance Single submitter
- CLUH p.Lys210Arg Uncertain significance Single submitter
- CLUH p.Lys983Arg Uncertain significance Single submitter
- CLUH p.Met107Ile Uncertain significance Single submitter
- CLUH p.Met1269Val Uncertain significance Single submitter
- CLUH p.Met1319Thr Uncertain significance Single submitter
- CLUH p.Met802Leu Uncertain significance Single submitter
- CLUH p.Met818Thr Uncertain significance Single submitter
- CLUH p.Phe457Leu Uncertain significance Single submitter
- CLUH p.Phe468Leu Uncertain significance Single submitter
- CLUH p.Phe477Val Uncertain significance Single submitter
- CLUH p.Phe756Leu Uncertain significance Single submitter
- CLUH p.Phe761Ile Uncertain significance Single submitter
- CLUH p.Pro104Ser Uncertain significance Single submitter
- CLUH p.Pro1342Leu Uncertain significance Single submitter
- CLUH p.Pro1344Leu Uncertain significance Single submitter
- CLUH p.Pro230Ser Uncertain significance Single submitter
- CLUH p.Pro239Thr Uncertain significance Single submitter
- CLUH p.Pro265Leu Uncertain significance Single submitter
- CLUH p.Pro354Ser Uncertain significance Single submitter
- CLUH p.Pro609Leu Uncertain significance Single submitter
- CLUH p.Pro610Ala Uncertain significance Single submitter
- CLUH p.Pro695Leu Uncertain significance Single submitter
- CLUH p.Pro695Thr Uncertain significance Single submitter
- CLUH p.Pro69Leu Uncertain significance Single submitter
- CLUH p.Pro731Ser Uncertain significance Single submitter
- CLUH p.Pro892Ser Uncertain significance Single submitter
- CLUH p.Ser103Tyr Uncertain significance Single submitter
- CLUH p.Ser1115Gly Uncertain significance Single submitter
- CLUH p.Ser1203Leu Uncertain significance Single submitter
- CLUH p.Ser1309Asn Uncertain significance Single submitter
- CLUH p.Ser208Arg Uncertain significance Single submitter
- CLUH p.Ser749Thr Uncertain significance Single submitter
- CLUH p.Ser859Leu Uncertain significance Single submitter
- CLUH p.Thr1265Arg Uncertain significance Single submitter
- CLUH p.Val1000Met Uncertain significance Single submitter
- CLUH p.Val1010Ala Uncertain significance Single submitter
- CLUH p.Val1010Ile Uncertain significance Single submitter
- CLUH p.Val163Gly Uncertain significance Single submitter
- CLUH p.Val372Met Uncertain significance Single submitter
- CLUH p.Val647Leu Uncertain significance Single submitter
- CLUH p.Val715Met Uncertain significance Single submitter
- CLUH p.Val736Met Uncertain significance Single submitter
- CLUH p.Val809Leu Uncertain significance Single submitter
- CLUH p.Val954Met Uncertain significance Single submitter
Predictors split 78
The independent predictors disagree with each other — read with care.
- CLUH p.Ala1257Ser Uncertain significance Single submitter
- CLUH p.Ala1320Val Uncertain significance Single submitter
- CLUH p.Ala522Gly Uncertain significance Single submitter
- CLUH p.Ala723Pro Uncertain significance Single submitter
- CLUH p.Ala743Thr Uncertain significance Single submitter
- CLUH p.Ala743Val Uncertain significance Single submitter
- CLUH p.Ala900Asp Uncertain significance Single submitter
- CLUH p.Arg1063His Uncertain significance Single submitter
- CLUH p.Arg1252Cys Uncertain significance Single submitter
- CLUH p.Arg155Gly Uncertain significance Single submitter
- CLUH p.Arg211Trp Uncertain significance Single submitter
- CLUH p.Arg233Trp Uncertain significance Single submitter
- CLUH p.Arg245His Uncertain significance Single submitter
- CLUH p.Arg407Cys Uncertain significance Single submitter
- CLUH p.Arg554Trp Uncertain significance Single submitter
- CLUH p.Arg561His Uncertain significance Single submitter
- CLUH p.Arg561Leu Uncertain significance Single submitter
- CLUH p.Arg577His Uncertain significance Single submitter
- CLUH p.Arg628Cys Uncertain significance Single submitter
- CLUH p.Arg628His Uncertain significance Single submitter
- CLUH p.Arg738His Uncertain significance Single submitter
- CLUH p.Arg766His Uncertain significance Single submitter
- CLUH p.Arg776Trp Uncertain significance Single submitter
- CLUH p.Arg837Trp Uncertain significance Single submitter
- CLUH p.Arg841Cys Uncertain significance Single submitter
- CLUH p.Arg841Gly Uncertain significance Single submitter
- CLUH p.Arg908Gln Uncertain significance Single submitter
- CLUH p.Asn1049Tyr Uncertain significance Single submitter
- CLUH p.Asn409Lys Uncertain significance Single submitter
- CLUH p.Asn575Asp Uncertain significance Single submitter
- CLUH p.Asn909His Uncertain significance Single submitter
- CLUH p.Asn922Lys Uncertain significance Single submitter
- CLUH p.Asp1291Glu Uncertain significance Single submitter
- CLUH p.Cys45Trp Uncertain significance Single submitter
- CLUH p.Gln1335His Uncertain significance Single submitter
- CLUH p.Glu1137Asp Uncertain significance Single submitter
- CLUH p.Glu1221Gln Uncertain significance Single submitter
- CLUH p.Glu1221Lys Uncertain significance Single submitter
- CLUH p.Glu735Gln Uncertain significance Single submitter
- CLUH p.Glu959Asp Uncertain significance Single submitter
- CLUH p.Gly597Arg Uncertain significance Single submitter
- CLUH p.Gly619Ser Uncertain significance Single submitter
- CLUH p.Gly630Ser Uncertain significance Single submitter
- CLUH p.Ile978Met Uncertain significance Single submitter
- CLUH p.Leu274Ile Uncertain significance Single submitter
- CLUH p.Leu574Val Uncertain significance Single submitter
- CLUH p.Leu828Val Uncertain significance Single submitter
- CLUH p.Lys1183Arg Uncertain significance Single submitter
- CLUH p.Lys475Arg Uncertain significance Single submitter
- CLUH p.Met1247Ile Uncertain significance Single submitter
- CLUH p.Met258Thr Uncertain significance Single submitter
- CLUH p.Met275Leu Uncertain significance Single submitter
- CLUH p.Met659Ile Uncertain significance Single submitter
- CLUH p.Pro1337Leu Uncertain significance Single submitter
- CLUH p.Pro329Gln Uncertain significance Single submitter
- CLUH p.Pro411Leu Uncertain significance Single submitter
- CLUH p.Pro553Leu Uncertain significance Single submitter
- CLUH p.Pro839Leu Uncertain significance Single submitter
- CLUH p.Pro917Leu Uncertain significance Single submitter
- CLUH p.Ser563Gly Uncertain significance Single submitter
- CLUH p.Ser686Phe Uncertain significance Single submitter
- CLUH p.Ser692Phe Uncertain significance Single submitter
- CLUH p.Ser791Tyr Uncertain significance Single submitter
- CLUH p.Ser905Phe Uncertain significance Single submitter
- CLUH p.Ser99Pro Uncertain significance Single submitter
- CLUH p.Thr401Met Uncertain significance Single submitter
- CLUH p.Thr866Met Uncertain significance Single submitter
- CLUH p.Tyr1051Cys Uncertain significance Single submitter
- CLUH p.Tyr1075Cys Uncertain significance Single submitter
- CLUH p.Tyr518Cys Uncertain significance Single submitter
- CLUH p.Val135Ala Uncertain significance Single submitter
- CLUH p.Val173Ile Uncertain significance Single submitter
- CLUH p.Val512Leu Uncertain significance Single submitter
- CLUH p.Val538Ile Uncertain significance Single submitter
- CLUH p.Val581Met Uncertain significance Single submitter
- CLUH p.Val617Met Uncertain significance Single submitter
- CLUH p.Val958Met Uncertain significance Single submitter
-
CLUH p.Asp1222His
Uncertain significance
No assertion criteria
Hirschsprung disease, susceptibility to, 1
All CLUH variants
Benign 6
- p.Ala671Val Multiple submitters
- p.Thr201= Multiple submitters
- c.2291-6C>T Single submitter
- c.3863+8C>T Single submitter
- p.Asp376= Single submitter
- p.Ser103= Single submitter
Likely benign 12
- p.Ala700= Multiple submitters
- p.Glu1228= Multiple submitters
- c.1267-7C>T Single submitter
- c.1962-7dup Single submitter
- p.Ala282= Single submitter
- p.Glu833Asp Single submitter
- p.Gly630= Single submitter
- p.Lys910Arg Single submitter
- p.Lys913Arg Single submitter
- p.Thr1095Ile Single submitter
- p.Thr401= Single submitter
- p.Val847Ile Single submitter
Uncertain significance 200
- p.Ala1076Thr Single submitter ⚠
- p.Ala1257Ser Single submitter ⚠
- p.Ala1320Gly Single submitter ⚠
- p.Ala1320Val Single submitter ⚠
- p.Ala282Thr Single submitter ⚠
- p.Ala336Thr Single submitter ⚠
- p.Ala365Val Single submitter ⚠
- p.Ala377Thr Single submitter ⚠
- p.Ala499Thr Single submitter ⚠
- p.Ala522Gly Single submitter ⚠
- p.Ala671Thr Single submitter ⚠
- p.Ala700Val Single submitter ⚠
- p.Ala723Pro Single submitter ⚠
- p.Ala724Glu Single submitter ⚠
- p.Ala724Thr Single submitter ⚠
- p.Ala740Gly Single submitter ⚠
- p.Ala743Ser Single submitter ⚠
- p.Ala743Thr Single submitter ⚠
- p.Ala743Val Single submitter ⚠
- p.Ala751Thr Single submitter ⚠
- p.Ala751Val Single submitter ⚠
- p.Ala787Ser Single submitter ⚠
- p.Ala805Gly Single submitter ⚠
- p.Ala878Val Single submitter ⚠
- p.Ala900Asp Single submitter ⚠
- p.Ala900Thr Single submitter ⚠
- p.Ala919Thr Single submitter ⚠
- p.Arg1063His Single submitter ⚠
- p.Arg1067Cys Single submitter ⚠
- p.Arg1252Cys Single submitter ⚠
- p.Arg155Gly Single submitter ⚠
- p.Arg211Trp Single submitter ⚠
- p.Arg233Trp Single submitter ⚠
- p.Arg235Gln Single submitter ⚠
- p.Arg245His Single submitter ⚠
- p.Arg393Gln Single submitter ⚠
- p.Arg407Cys Single submitter ⚠
- p.Arg418Thr Single submitter ⚠
- p.Arg532Gln Single submitter ⚠
- p.Arg554Trp Single submitter ⚠
- p.Arg561His Single submitter ⚠
- p.Arg561Leu Single submitter ⚠
- p.Arg577His Single submitter ⚠
- p.Arg606His Single submitter ⚠
- p.Arg628Cys Single submitter ⚠
- p.Arg628His Single submitter ⚠
- p.Arg633His Single submitter ⚠
- p.Arg738His Single submitter ⚠
- p.Arg766His Single submitter ⚠
- p.Arg776Trp Single submitter ⚠
- p.Arg819Gly Single submitter ⚠
- p.Arg819His Single submitter ⚠
- p.Arg826Cys Single submitter ⚠
- p.Arg826His Single submitter ⚠
- p.Arg837Gln Single submitter ⚠
- p.Arg837Trp Single submitter ⚠
- p.Arg841Cys Single submitter ⚠
- p.Arg841Gly Single submitter ⚠
- p.Arg908Gln Single submitter ⚠
- p.Asn1041Ser Single submitter ⚠
- p.Asn1049Tyr Single submitter ⚠
- p.Asn192His Single submitter ⚠
- p.Asn244His Single submitter ⚠
- p.Asn409Lys Single submitter ⚠
- p.Asn460Lys Single submitter ⚠
- p.Asn575Asp Single submitter ⚠
- p.Asn909His Single submitter ⚠
- p.Asn909Lys Single submitter ⚠
- p.Asn922Lys Single submitter ⚠
- p.Asp1291Glu Single submitter ⚠
- p.Asp202Asn Single submitter ⚠
- p.Asp426Gly Single submitter ⚠
- p.Asp901Asn Single submitter ⚠
- p.Asp948Asn Single submitter ⚠
- p.Asp999Tyr Single submitter ⚠
- p.Cys45Trp Single submitter ⚠
- p.Cys741Phe Single submitter ⚠
- p.Gln1335His Single submitter ⚠
- p.Gln243Pro Single submitter ⚠
- p.Gln326Leu Single submitter ⚠
- p.Gln668Glu Single submitter ⚠
- p.Glu106Lys Single submitter ⚠
- p.Glu1137Asp Single submitter ⚠
- p.Glu1208Gln Single submitter ⚠
- p.Glu1221Gln Single submitter ⚠
- p.Glu1221Lys Single submitter ⚠
- p.Glu1231Gln Single submitter ⚠
- p.Glu158Lys Single submitter ⚠
- p.Glu531Asp Single submitter ⚠
- p.Glu652Gly Single submitter ⚠
- p.Glu735Gln Single submitter ⚠
- p.Glu940Lys Single submitter ⚠
- p.Glu959Asp Single submitter ⚠
- p.Gly1211Ser Single submitter ⚠
- p.Gly1330Arg Single submitter ⚠
- p.Gly272Arg Single submitter ⚠
- p.Gly597Arg Single submitter ⚠
- p.Gly619Ser Single submitter ⚠
- p.Gly630Ser Single submitter ⚠
- p.Gly684Ser Single submitter ⚠
- p.Gly711Ser Single submitter ⚠
- p.Gly745Ser Single submitter ⚠
- p.Gly75Ser Single submitter ⚠
- p.His1223Tyr Single submitter ⚠
- p.His552Asn Single submitter ⚠
- p.His599Arg Single submitter ⚠
- p.His862Arg Single submitter ⚠
- p.Ile388Val Single submitter ⚠
- p.Ile722Val Single submitter ⚠
- p.Ile978Met Single submitter ⚠
- p.Leu1144Val Single submitter ⚠
- p.Leu1262Phe Single submitter ⚠
- p.Leu274Ile Single submitter ⚠
- p.Leu298Val Single submitter ⚠
- p.Leu415Phe Single submitter ⚠
- p.Leu49Val Single submitter ⚠
- p.Leu574Val Single submitter ⚠
- p.Leu712Gln Single submitter ⚠
- p.Leu790Val Single submitter ⚠
- p.Leu828Val Single submitter ⚠
- p.Leu832Val Single submitter ⚠
- p.Leu884Val Single submitter ⚠
- p.Leu933His Single submitter ⚠
- p.Lys1183Arg Single submitter ⚠
- p.Lys1198Ile Single submitter ⚠
- p.Lys1290Arg Single submitter ⚠
- p.Lys210Arg Single submitter ⚠
- p.Lys475Arg Single submitter ⚠
- p.Lys983Arg Single submitter ⚠
- p.Met107Ile Single submitter ⚠
- p.Met1247Ile Single submitter ⚠
- p.Met1269Val Single submitter ⚠
- p.Met1319Thr Single submitter ⚠
- p.Met258Thr Single submitter ⚠
- p.Met275Leu Single submitter ⚠
- p.Met659Ile Single submitter ⚠
- p.Met802Leu Single submitter ⚠
- p.Met818Thr Single submitter ⚠
- p.Phe457Leu Single submitter ⚠
- p.Phe468Leu Single submitter ⚠
- p.Phe477Val Single submitter ⚠
- p.Phe756Leu Single submitter ⚠
- p.Phe761Ile Single submitter ⚠
- p.Pro104Ser Single submitter ⚠
- p.Pro1337Leu Single submitter ⚠
- p.Pro1342Leu Single submitter ⚠
- p.Pro1344Leu Single submitter ⚠
- p.Pro230Ser Single submitter ⚠
- p.Pro239Thr Single submitter ⚠
- p.Pro265Leu Single submitter ⚠
- p.Pro329Gln Single submitter ⚠
- p.Pro354Ser Single submitter ⚠
- p.Pro411Leu Single submitter ⚠
- p.Pro553Leu Single submitter ⚠
- p.Pro609Leu Single submitter ⚠
- p.Pro610Ala Single submitter ⚠
- p.Pro695Leu Single submitter ⚠
- p.Pro695Thr Single submitter ⚠
- p.Pro69Leu Single submitter ⚠
- p.Pro731Ser Single submitter ⚠
- p.Pro839Leu Single submitter ⚠
- p.Pro892Ser Single submitter ⚠
- p.Pro917Leu Single submitter ⚠
- p.Ser103Tyr Single submitter ⚠
- p.Ser1115Gly Single submitter ⚠
- p.Ser1203Leu Single submitter ⚠
- p.Ser1309Asn Single submitter ⚠
- p.Ser208Arg Single submitter ⚠
- p.Ser563Gly Single submitter ⚠
- p.Ser686Phe Single submitter ⚠
- p.Ser692Phe Single submitter ⚠
- p.Ser749Thr Single submitter ⚠
- p.Ser791Tyr Single submitter ⚠
- p.Ser859Leu Single submitter ⚠
- p.Ser905Phe Single submitter ⚠
- p.Ser99Pro Single submitter ⚠
- p.Thr1265Arg Single submitter ⚠
- p.Thr401Met Single submitter ⚠
- p.Thr866Met Single submitter ⚠
- p.Tyr1051Cys Single submitter ⚠
- p.Tyr1075Cys Single submitter ⚠
- p.Tyr518Cys Single submitter ⚠
- p.Val1000Met Single submitter ⚠
- p.Val1010Ala Single submitter ⚠
- p.Val1010Ile Single submitter ⚠
- p.Val135Ala Single submitter ⚠
- p.Val163Gly Single submitter ⚠
- p.Val173Ile Single submitter ⚠
- p.Val372Met Single submitter ⚠
- p.Val512Leu Single submitter ⚠
- p.Val538Ile Single submitter ⚠
- p.Val581Met Single submitter ⚠
- p.Val617Met Single submitter ⚠
- p.Val647Leu Single submitter ⚠
- p.Val715Met Single submitter ⚠
- p.Val736Met Single submitter ⚠
- p.Val809Leu Single submitter ⚠
- p.Val954Met Single submitter ⚠
- p.Val958Met Single submitter ⚠
- p.Asp1222His No assertion criteria Hirschsprung disease, susceptibility to, 1 ⚠