CHL1 — 287 ClinVar variants
All ClinVar germline CHL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 199 flagged for review →
6 Conflicting · 19 Benign · 2 Benign/Likely benign · 45 Likely benign · 215 Uncertain significance
Full CHL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 199
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 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 146
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHL1 p.Ile100Val Uncertain significance Multiple submitters
- CHL1 p.Ala1087Ser Uncertain significance Single submitter
- CHL1 p.Ala1177Thr Uncertain significance Single submitter
- CHL1 p.Ala1202Thr Uncertain significance Single submitter
- CHL1 p.Ala1224Val Uncertain significance Single submitter
- CHL1 p.Ala280Ser Uncertain significance Single submitter
- CHL1 p.Ala356Val Uncertain significance Single submitter
- CHL1 p.Ala428Thr Uncertain significance Single submitter
- CHL1 p.Ala428Val Uncertain significance Single submitter
- CHL1 p.Ala520Val Uncertain significance Single submitter
- CHL1 p.Ala650Asp Uncertain significance Single submitter
- CHL1 p.Ala693Thr Uncertain significance Single submitter
- CHL1 p.Arg1062Cys Uncertain significance Single submitter
- CHL1 p.Arg1062Leu Uncertain significance Single submitter
- CHL1 p.Arg1084Gly Uncertain significance Single submitter
- CHL1 p.Arg1165Gln Uncertain significance Single submitter
- CHL1 p.Arg1223Gln Uncertain significance Single submitter
- CHL1 p.Arg179Gly Uncertain significance Single submitter
- CHL1 p.Arg199Cys Uncertain significance Single submitter
- CHL1 p.Arg348His Uncertain significance Single submitter
- CHL1 p.Arg534Gly Uncertain significance Single submitter
- CHL1 p.Arg584Trp Uncertain significance Single submitter
- CHL1 p.Arg645Gln Uncertain significance Single submitter
- CHL1 p.Arg680Lys Uncertain significance Single submitter
- CHL1 p.Arg729Ser Uncertain significance Single submitter
- CHL1 p.Arg735Met Uncertain significance Single submitter
- CHL1 p.Arg82Gly Uncertain significance Single submitter
- CHL1 p.Arg82Trp Uncertain significance Single submitter
- CHL1 p.Asn406Ser Uncertain significance Single submitter
- CHL1 p.Asn596Asp Uncertain significance Single submitter
- CHL1 p.Asn655Thr Uncertain significance Single submitter
- CHL1 p.Asn74Tyr Uncertain significance Single submitter
- CHL1 p.Asn864Ser Uncertain significance Single submitter
- CHL1 p.Asp1170Tyr Uncertain significance Single submitter
- CHL1 p.Asp899Asn Uncertain significance Single submitter
- CHL1 p.Asp944Gly Uncertain significance Single submitter
- CHL1 p.Cys109Phe Uncertain significance Single submitter
- CHL1 p.Cys461Arg Uncertain significance Single submitter
- CHL1 p.Cys552Trp Uncertain significance Single submitter
- CHL1 p.Gln32Arg Uncertain significance Single submitter
- CHL1 p.Gln889Arg Uncertain significance Single submitter
- CHL1 p.Gln934Arg Uncertain significance Single submitter
- CHL1 p.Gln934Glu Uncertain significance Single submitter
- CHL1 p.Glu1030Gln Uncertain significance Single submitter
- CHL1 p.Glu142Lys Uncertain significance Single submitter
-
CHL1 p.Glu2Gly
Uncertain significance
Single submitter
Seizure
- CHL1 p.Glu369Lys Uncertain significance Single submitter
- CHL1 p.Glu371Lys Uncertain significance Single submitter
- CHL1 p.Glu549Asp Uncertain significance Single submitter
- CHL1 p.Glu581Asp Uncertain significance Single submitter
- CHL1 p.Glu632Lys Uncertain significance Single submitter
- CHL1 p.Glu671Lys Uncertain significance Single submitter
- CHL1 p.Glu707Asp Uncertain significance Single submitter
- CHL1 p.Glu707Lys Uncertain significance Single submitter
- CHL1 p.Glu775Gln Uncertain significance Single submitter
- CHL1 p.Gly1031Glu Uncertain significance Single submitter
- CHL1 p.Gly1036Arg Uncertain significance Single submitter
- CHL1 p.Gly1088Asp Uncertain significance Single submitter
- CHL1 p.Gly333Ala Uncertain significance Single submitter
- CHL1 p.Gly651Val Uncertain significance Single submitter
- CHL1 p.Gly667Val Uncertain significance Single submitter
- CHL1 p.Gly673Glu Uncertain significance Single submitter
- CHL1 p.Gly888Arg Uncertain significance Single submitter
- CHL1 p.His1188Asp Uncertain significance Single submitter
- CHL1 p.His488Tyr Uncertain significance Single submitter
- CHL1 p.His551Arg Uncertain significance Single submitter
- CHL1 p.His559Leu Uncertain significance Single submitter
- CHL1 p.His654Tyr Uncertain significance Single submitter
- CHL1 p.His720Arg Uncertain significance Single submitter
- CHL1 p.His877Gln Uncertain significance Single submitter
- CHL1 p.Ile313Thr Uncertain significance Single submitter
- CHL1 p.Ile402Val Uncertain significance Single submitter
- CHL1 p.Ile587Thr Uncertain significance Single submitter
- CHL1 p.Ile594Met Uncertain significance Single submitter
- CHL1 p.Ile658Thr Uncertain significance Single submitter
- CHL1 p.Ile831Val Uncertain significance Single submitter
- CHL1 p.Ile986Val Uncertain significance Single submitter
- CHL1 p.Leu1102Val Uncertain significance Single submitter
- CHL1 p.Leu1160Ile Uncertain significance Single submitter
- CHL1 p.Leu440Phe Uncertain significance Single submitter
- CHL1 p.Leu613Val Uncertain significance Single submitter
- CHL1 p.Leu678Val Uncertain significance Single submitter
- CHL1 p.Leu858Pro Uncertain significance Single submitter
- CHL1 p.Lys114Glu Uncertain significance Single submitter
- CHL1 p.Lys196Arg Uncertain significance Single submitter
- CHL1 p.Lys247Arg Uncertain significance Single submitter
- CHL1 p.Lys270Glu Uncertain significance Single submitter
- CHL1 p.Lys299Asn Uncertain significance Single submitter
- CHL1 p.Lys351Glu Uncertain significance Single submitter
- CHL1 p.Lys518Thr Uncertain significance Single submitter
- CHL1 p.Lys565Asn Uncertain significance Single submitter
- CHL1 p.Lys768Arg Uncertain significance Single submitter
- CHL1 p.Lys942Glu Uncertain significance Single submitter
- CHL1 p.Lys942Thr Uncertain significance Single submitter
- CHL1 p.Met1103Ile Uncertain significance Single submitter
- CHL1 p.Met182Leu Uncertain significance Single submitter
- CHL1 p.Met220Val Uncertain significance Single submitter
- CHL1 p.Phe901Ser Uncertain significance Single submitter
- CHL1 p.Pro1049Ser Uncertain significance Single submitter
- CHL1 p.Pro1055Leu Uncertain significance Single submitter
- CHL1 p.Pro1173Leu Uncertain significance Single submitter
- CHL1 p.Pro1221Arg Uncertain significance Single submitter
- CHL1 p.Pro1221Leu Uncertain significance Single submitter
- CHL1 p.Pro346Thr Uncertain significance Single submitter
- CHL1 p.Pro386Thr Uncertain significance Single submitter
- CHL1 p.Pro3Thr Uncertain significance Single submitter
- CHL1 p.Pro439Ala Uncertain significance Single submitter
- CHL1 p.Pro65Leu Uncertain significance Single submitter
- CHL1 p.Pro723Ser Uncertain significance Single submitter
- CHL1 p.Pro75Thr Uncertain significance Single submitter
- CHL1 p.Pro989Ala Uncertain significance Single submitter
- CHL1 p.Ser1216Cys Uncertain significance Single submitter
- CHL1 p.Ser385Ala Uncertain significance Single submitter
- CHL1 p.Ser507Phe Uncertain significance Single submitter
- CHL1 p.Ser536Ala Uncertain significance Single submitter
- CHL1 p.Ser563Asn Uncertain significance Single submitter
- CHL1 p.Ser714Thr Uncertain significance Single submitter
- CHL1 p.Ser809Cys Uncertain significance Single submitter
- CHL1 p.Ser897Phe Uncertain significance Single submitter
- CHL1 p.Ser997Pro Uncertain significance Single submitter
- CHL1 p.Thr1022Met Uncertain significance Single submitter
- CHL1 p.Thr1044Ile Uncertain significance Single submitter
- CHL1 p.Thr1217Ile Uncertain significance Single submitter
- CHL1 p.Thr285Ser Uncertain significance Single submitter
- CHL1 p.Thr334Lys Uncertain significance Single submitter
- CHL1 p.Thr336Ile Uncertain significance Single submitter
- CHL1 p.Thr412Ser Uncertain significance Single submitter
- CHL1 p.Thr494Ile Uncertain significance Single submitter
- CHL1 p.Thr580Ala Uncertain significance Single submitter
- CHL1 p.Thr647Ile Uncertain significance Single submitter
- CHL1 p.Thr827Ala Uncertain significance Single submitter
- CHL1 p.Thr927Ala Uncertain significance Single submitter
- CHL1 p.Thr947Ala Uncertain significance Single submitter
- CHL1 p.Thr987Arg Uncertain significance Single submitter
- CHL1 p.Trp290Leu Uncertain significance Single submitter
- CHL1 p.Trp568Leu Uncertain significance Single submitter
- CHL1 p.Tyr1090His Uncertain significance Single submitter
- CHL1 p.Val1052Glu Uncertain significance Single submitter
- CHL1 p.Val224Ala Uncertain significance Single submitter
- CHL1 p.Val34Ile Uncertain significance Single submitter
- CHL1 p.Val34Leu Uncertain significance Single submitter
- CHL1 p.Val434Ala Uncertain significance Single submitter
- CHL1 p.Val453Leu Uncertain significance Single submitter
- CHL1 p.Val471Ala Uncertain significance Single submitter
- CHL1 p.Val476Ala Uncertain significance Single submitter
- CHL1 p.Val881Leu Uncertain significance Single submitter
Predictors split 49
The independent predictors disagree with each other — read with care.
- CHL1 p.Ala111Val Uncertain significance Single submitter
- CHL1 p.Ala704Thr Uncertain significance Single submitter
- CHL1 p.Arg108His Conflicting Single submitter
- CHL1 p.Arg1123Thr Uncertain significance Single submitter
- CHL1 p.Arg199His Uncertain significance Single submitter
- CHL1 p.Arg325His Uncertain significance Single submitter
- CHL1 p.Arg486Trp Uncertain significance Single submitter
- CHL1 p.Arg645Trp Benign Single submitter
- CHL1 p.Arg787Trp Uncertain significance Single submitter
- CHL1 p.Arg857Cys Uncertain significance Single submitter
- CHL1 p.Asn113Ser Uncertain significance Single submitter
- CHL1 p.Asn805Ser Uncertain significance Single submitter
- CHL1 p.Asp1194Gly Uncertain significance Single submitter
- CHL1 p.Asp147Gly Uncertain significance Single submitter
- CHL1 p.Asp197Glu Uncertain significance Single submitter
- CHL1 p.Asp320Glu Uncertain significance Single submitter
- CHL1 p.Asp653Tyr Uncertain significance Single submitter
- CHL1 p.Gln216His Uncertain significance Single submitter
- CHL1 p.Gln802Lys Uncertain significance Single submitter
- CHL1 p.Glu1151Gly Uncertain significance Single submitter
- CHL1 p.Glu1151Lys Uncertain significance Single submitter
- CHL1 p.Gly1125Arg Uncertain significance Single submitter
- CHL1 p.Gly484Ser Uncertain significance Single submitter
- CHL1 p.Gly603Ala Uncertain significance Single submitter
- CHL1 p.Gly953Glu Uncertain significance Single submitter
- CHL1 p.His337Gln Uncertain significance Single submitter
- CHL1 p.His411Arg Uncertain significance Single submitter
- CHL1 p.His610Pro Uncertain significance Single submitter
- CHL1 p.Ile1106Thr Uncertain significance Single submitter
- CHL1 p.Leu151Phe Uncertain significance Single submitter
- CHL1 p.Lys270Ile Uncertain significance Single submitter
- CHL1 p.Lys475Asn Uncertain significance Single submitter
- CHL1 p.Lys939Asn Uncertain significance Single submitter
- CHL1 p.Pro1159Leu Uncertain significance Single submitter
- CHL1 p.Pro160Thr Uncertain significance Single submitter
- CHL1 p.Pro896Ser Conflicting Single submitter
- CHL1 p.Ser198Arg Uncertain significance Single submitter
- CHL1 p.Thr336Pro Uncertain significance Single submitter
- CHL1 p.Thr36Ala Uncertain significance Single submitter
- CHL1 p.Thr36Lys Uncertain significance Single submitter
- CHL1 p.Thr451Ile Uncertain significance Single submitter
- CHL1 p.Trp994Cys Uncertain significance Single submitter
- CHL1 p.Tyr1127His Uncertain significance Single submitter
- CHL1 p.Tyr1201Ser Uncertain significance Single submitter
- CHL1 p.Tyr189His Uncertain significance Single submitter
- CHL1 p.Val705Met Uncertain significance Single submitter
- CHL1 p.Val799Leu Uncertain significance Single submitter
- CHL1 p.Val842Leu Uncertain significance Single submitter
-
CHL1 p.Asn192Lys
Uncertain significance
No assertion criteria
CHL1-related disorder
All CHL1 variants
Conflicting classifications of pathogenicity 6
- p.Arg108His Single submitter ⚠
- p.Asp618Asn Single submitter ⚠
- p.Pro896Ser Single submitter ⚠
- p.Thr501Ala Single submitter ⚠
- p.Thr766Asn Single submitter ⚠
- p.Val43Ala Single submitter ⚠
Benign 19
- c.1306+10C>T Multiple submitters
- c.197+10G>C Multiple submitters
- p.Ala465= Multiple submitters
- p.Gln216= Multiple submitters
- p.Gly760Arg Multiple submitters
- p.Phe700= Multiple submitters
- p.Ser30Ala Multiple submitters
- p.Val316Ile Multiple submitters
- c.1306+10C>A Single submitter
- c.2586+12_2586+14del Single submitter
- c.3458+6C>T Single submitter
- c.92-3T>A Single submitter
- p.Arg645Trp Single submitter ⚠
- p.Leu1190= Single submitter
- p.Leu761= Single submitter
- p.Pro791= Single submitter
- p.Ser235Leu Single submitter
- p.Ser68= Single submitter
- p.Leu17Phe No assertion criteria CHL1-related disorder
Benign/Likely benign 2
- p.Arg93= Multiple submitters
- p.Thr975Ser Multiple submitters
Likely benign 45
- p.Ala1105Val Multiple submitters
- p.Ala450= Multiple submitters
- p.Gly146= Multiple submitters
- p.Ile883Val Multiple submitters
- p.Leu10Val Multiple submitters
- p.Lys1004= Multiple submitters
- c.1034-4C>T Single submitter
- c.1978+4G>A Single submitter
- c.3253+10G>C Single submitter
- c.385+9T>G Single submitter
- p.Ala617= Single submitter
- p.Arg108Leu Single submitter
- p.Arg93Lys Single submitter
- p.Asn1000Ser Single submitter
- p.Asn192= Single submitter
- p.Asn706= Single submitter
- p.Asp1072Asn Single submitter
- p.Asp80= Single submitter
- p.Glu1051Asp Single submitter
- p.Glu502Lys Single submitter
- p.Gly1056Ala Single submitter
- p.Ile174= Single submitter
- p.Ile342Thr Single submitter
- p.Ile662= Single submitter
- p.Leu599Phe Single submitter
- p.Lys544Arg Single submitter
- p.Lys685Glu Single submitter
- p.Met547Thr Single submitter
- p.Phe190= Single submitter
- p.Pro1055= Single submitter
- p.Pro796= Single submitter
- p.Pro829= Single submitter
- p.Ser1216= Single submitter
- p.Ser569Asn Single submitter
- p.Thr451Ala Single submitter
- p.Thr840= Single submitter
- p.Tyr976= Single submitter
- p.Val12= Single submitter
- p.Val414Ala Single submitter
- c.679+7C>T No assertion criteria CHL1-related disorder
- p.Arg885= No assertion criteria CHL1-related disorder
- p.His1188= No assertion criteria CHL1-related disorder
- p.Ile1035Thr No assertion criteria CHL1-related disorder
- p.Pro724= No assertion criteria CHL1-related disorder
- p.Tyr52Cys No assertion criteria CHL1-related disorder
Uncertain significance 215
- p.Ile100Val Multiple submitters ⚠
- c.849-3C>T Single submitter
- p.Ala1087Ser Single submitter ⚠
- p.Ala111Val Single submitter ⚠
- p.Ala1177Thr Single submitter ⚠
- p.Ala1202Thr Single submitter ⚠
- p.Ala1224Val Single submitter ⚠
- p.Ala280Ser Single submitter ⚠
- p.Ala356Val Single submitter ⚠
- p.Ala428Thr Single submitter ⚠
- p.Ala428Val Single submitter ⚠
- p.Ala520Val Single submitter ⚠
- p.Ala650Asp Single submitter ⚠
- p.Ala693Thr Single submitter ⚠
- p.Ala704Thr Single submitter ⚠
- p.Arg1062Cys Single submitter ⚠
- p.Arg1062Leu Single submitter ⚠
- p.Arg1084Gly Single submitter ⚠
- p.Arg1123Thr Single submitter ⚠
- p.Arg1165Gln Single submitter ⚠
- p.Arg1223Gln Single submitter ⚠
- p.Arg179Gly Single submitter ⚠
- p.Arg199Cys Single submitter ⚠
- p.Arg199His Single submitter ⚠
- p.Arg325His Single submitter ⚠
- p.Arg348His Single submitter ⚠
- p.Arg486Trp Single submitter ⚠
- p.Arg534Gly Single submitter ⚠
- p.Arg584Trp Single submitter ⚠
- p.Arg645Gln Single submitter ⚠
- p.Arg680Lys Single submitter ⚠
- p.Arg729Ser Single submitter ⚠
- p.Arg735Met Single submitter ⚠
- p.Arg787Trp Single submitter ⚠
- p.Arg82Gly Single submitter ⚠
- p.Arg82Trp Single submitter ⚠
- p.Arg857Cys Single submitter ⚠
- p.Asn113Ser Single submitter ⚠
- p.Asn231Thr Single submitter
- p.Asn406Lys Single submitter
- p.Asn406Ser Single submitter ⚠
- p.Asn596Asp Single submitter ⚠
- p.Asn655Asp Single submitter
- p.Asn655Thr Single submitter ⚠
- p.Asn74Tyr Single submitter ⚠
- p.Asn805Ser Single submitter ⚠
- p.Asn864Ser Single submitter ⚠
- p.Asp1170Tyr Single submitter ⚠
- p.Asp1194Gly Single submitter ⚠
- p.Asp147Gly Single submitter ⚠
- p.Asp197Glu Single submitter ⚠
- p.Asp232Glu Single submitter
- p.Asp320Glu Single submitter ⚠
- p.Asp653Tyr Single submitter ⚠
- p.Asp899Asn Single submitter ⚠
- p.Asp944Gly Single submitter ⚠
- p.Cys109Phe Single submitter ⚠
- p.Cys461Arg Single submitter ⚠
- p.Cys552Trp Single submitter ⚠
- p.Gln216His Single submitter ⚠
- p.Gln32Arg Single submitter ⚠
- p.Gln699His Single submitter
- p.Gln802Lys Single submitter ⚠
- p.Gln889Arg Single submitter ⚠
- p.Gln934Arg Single submitter ⚠
- p.Gln934Glu Single submitter ⚠
- p.Glu1030Gln Single submitter ⚠
- p.Glu1151Gly Single submitter ⚠
- p.Glu1151Lys Single submitter ⚠
- p.Glu142Lys Single submitter ⚠
- p.Glu2Gly Single submitter Seizure ⚠
- p.Glu344Ala Single submitter
- p.Glu369Lys Single submitter ⚠
- p.Glu371Lys Single submitter ⚠
- p.Glu549Asp Single submitter ⚠
- p.Glu581Asp Single submitter ⚠
- p.Glu632Lys Single submitter ⚠
- p.Glu671Lys Single submitter ⚠
- p.Glu707Asp Single submitter ⚠
- p.Glu707Lys Single submitter ⚠
- p.Glu775Gln Single submitter ⚠
- p.Gly1031Glu Single submitter ⚠
- p.Gly1036Arg Single submitter ⚠
- p.Gly1088Asp Single submitter ⚠
- p.Gly1125Arg Single submitter ⚠
- p.Gly333Ala Single submitter ⚠
- p.Gly484Ser Single submitter ⚠
- p.Gly603Ala Single submitter ⚠
- p.Gly651Val Single submitter ⚠
- p.Gly667Val Single submitter ⚠
- p.Gly673Glu Single submitter ⚠
- p.Gly888Arg Single submitter ⚠
- p.Gly953Glu Single submitter ⚠
- p.His1188Asp Single submitter ⚠
- p.His229Tyr Single submitter
- p.His337Gln Single submitter ⚠
- p.His411Arg Single submitter ⚠
- p.His423Arg Single submitter
- p.His488Tyr Single submitter ⚠
- p.His551Arg Single submitter ⚠
- p.His559Leu Single submitter ⚠
- p.His610Pro Single submitter ⚠
- p.His654Tyr Single submitter ⚠
- p.His720Arg Single submitter ⚠
- p.His877Gln Single submitter ⚠
- p.Ile1106Thr Single submitter ⚠
- p.Ile313Leu Single submitter
- p.Ile313Thr Single submitter ⚠
- p.Ile402Val Single submitter ⚠
- p.Ile587Thr Single submitter ⚠
- p.Ile594Met Single submitter ⚠
- p.Ile658Thr Single submitter ⚠
- p.Ile831Val Single submitter ⚠
- p.Ile986Val Single submitter ⚠
- p.Leu1102Val Single submitter ⚠
- p.Leu1160Ile Single submitter ⚠
- p.Leu151Phe Single submitter ⚠
- p.Leu253Gln Single submitter CHL1-related disorder
- p.Leu440Phe Single submitter ⚠
- p.Leu525Val Single submitter
- p.Leu613Val Single submitter ⚠
- p.Leu678Val Single submitter ⚠
- p.Leu858Pro Single submitter ⚠
- p.Lys114Glu Single submitter ⚠
- p.Lys196Arg Single submitter ⚠
- p.Lys242Glu Single submitter
- p.Lys247Arg Single submitter ⚠
- p.Lys270Glu Single submitter ⚠
- p.Lys270Ile Single submitter ⚠
- p.Lys299Asn Single submitter ⚠
- p.Lys351Glu Single submitter ⚠
- p.Lys475Asn Single submitter ⚠
- p.Lys518Thr Single submitter ⚠
- p.Lys565Asn Single submitter ⚠
- p.Lys768Arg Single submitter ⚠
- p.Lys939Asn Single submitter ⚠
- p.Lys942Glu Single submitter ⚠
- p.Lys942Thr Single submitter ⚠
- p.Met1103Ile Single submitter ⚠
- p.Met182Leu Single submitter ⚠
- p.Met220Val Single submitter ⚠
- p.Phe901Ser Single submitter ⚠
- p.Pro1049Ser Single submitter ⚠
- p.Pro1055Leu Single submitter ⚠
- p.Pro1159Leu Single submitter ⚠
- p.Pro1173Leu Single submitter ⚠
- p.Pro1221Arg Single submitter ⚠
- p.Pro1221Leu Single submitter ⚠
- p.Pro160Thr Single submitter ⚠
- p.Pro251Ala Single submitter
- p.Pro256Leu Single submitter
- p.Pro346Thr Single submitter ⚠
- p.Pro386Thr Single submitter ⚠
- p.Pro3Thr Single submitter ⚠
- p.Pro439Ala Single submitter ⚠
- p.Pro65Leu Single submitter ⚠
- p.Pro723Ser Single submitter ⚠
- p.Pro750Ser Single submitter
- p.Pro75Thr Single submitter ⚠
- p.Pro796Arg Single submitter
- p.Pro989Ala Single submitter ⚠
- p.Ser1216Cys Single submitter ⚠
- p.Ser198Arg Single submitter ⚠
- p.Ser234Asn Single submitter
- p.Ser236Phe Single submitter
- p.Ser362Ile Single submitter
- p.Ser385Ala Single submitter ⚠
- p.Ser507Phe Single submitter ⚠
- p.Ser536Ala Single submitter ⚠
- p.Ser563Asn Single submitter ⚠
- p.Ser714Thr Single submitter ⚠
- p.Ser809Cys Single submitter ⚠
- p.Ser897Phe Single submitter ⚠
- p.Ser997Pro Single submitter ⚠
- p.Thr1022Met Single submitter ⚠
- p.Thr1027Ala Single submitter
- p.Thr1044Ile Single submitter ⚠
- p.Thr1217Ile Single submitter ⚠
- p.Thr237Lys Single submitter
- p.Thr285Ile Single submitter
- p.Thr285Ser Single submitter ⚠
- p.Thr334Lys Single submitter ⚠
- p.Thr336Ile Single submitter ⚠
- p.Thr336Pro Single submitter ⚠
- p.Thr36Ala Single submitter ⚠
- p.Thr36Lys Single submitter ⚠
- p.Thr412Ser Single submitter ⚠
- p.Thr451Ile Single submitter ⚠
- p.Thr494Ile Single submitter ⚠
- p.Thr580Ala Single submitter ⚠
- p.Thr647Ile Single submitter ⚠
- p.Thr827Ala Single submitter ⚠
- p.Thr927Ala Single submitter ⚠
- p.Thr947Ala Single submitter ⚠
- p.Thr987Arg Single submitter ⚠
- p.Trp290Leu Single submitter ⚠
- p.Trp568Leu Single submitter ⚠
- p.Trp994Cys Single submitter ⚠
- p.Tyr1090His Single submitter ⚠
- p.Tyr1127His Single submitter ⚠
- p.Tyr1201Ser Single submitter ⚠
- p.Tyr189His Single submitter ⚠
- p.Val1052Glu Single submitter ⚠
- p.Val224Ala Single submitter ⚠
- p.Val34Ile Single submitter ⚠
- p.Val34Leu Single submitter ⚠
- p.Val434Ala Single submitter ⚠
- p.Val453Leu Single submitter ⚠
- p.Val471Ala Single submitter ⚠
- p.Val476Ala Single submitter ⚠
- p.Val705Met Single submitter ⚠
- p.Val799Leu Single submitter ⚠
- p.Val842Leu Single submitter ⚠
- p.Val881Leu Single submitter ⚠
- p.Asn192Lys No assertion criteria CHL1-related disorder ⚠