ASRGL1 — 293 ClinVar variants
All ClinVar germline ASRGL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 152 flagged for review →
2 Conflicting · 12 Benign · 108 Likely benign · 171 Uncertain significance
Full ASRGL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 152
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 76
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ASRGL1 p.Ala12Ser Uncertain significance Multiple submitters
- ASRGL1 p.Arg196His Uncertain significance Multiple submitters
- ASRGL1 p.Arg232Lys Uncertain significance Multiple submitters
- ASRGL1 p.Arg258Ser Uncertain significance Multiple submitters
- ASRGL1 p.Asn70Lys Uncertain significance Multiple submitters
- ASRGL1 p.Cys162Gly Uncertain significance Multiple submitters
- ASRGL1 p.Glu154Asp Uncertain significance Multiple submitters
- ASRGL1 p.Gly136Glu Uncertain significance Multiple submitters
- ASRGL1 p.Gly214Arg Uncertain significance Multiple submitters
-
ASRGL1 p.Gly26Cys
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- ASRGL1 p.Gly296Arg Uncertain significance Multiple submitters
- ASRGL1 p.Gly64Asp Uncertain significance Multiple submitters
- ASRGL1 p.Ile213Val Uncertain significance Multiple submitters
- ASRGL1 p.Pro201Leu Uncertain significance Multiple submitters
- ASRGL1 p.Val169Met Uncertain significance Multiple submitters
- ASRGL1 p.Val197Ile Uncertain significance Multiple submitters
- ASRGL1 p.Val5Ile Uncertain significance Multiple submitters
- ASRGL1 p.Ala105Asp Uncertain significance Single submitter
- ASRGL1 p.Ala123Val Uncertain significance Single submitter
- ASRGL1 p.Ala127Thr Uncertain significance Single submitter
- ASRGL1 p.Ala171Pro Uncertain significance Single submitter
- ASRGL1 p.Ala209Val Uncertain significance Single submitter
- ASRGL1 p.Ala99Glu Uncertain significance Single submitter
- ASRGL1 p.Arg147Leu Uncertain significance Single submitter
- ASRGL1 p.Arg196Cys Uncertain significance Single submitter
- ASRGL1 p.Arg232Thr Uncertain significance Single submitter
- ASRGL1 p.Arg258Lys Uncertain significance Single submitter
- ASRGL1 p.Arg39Gln Uncertain significance Single submitter
- ASRGL1 p.Asn144Lys Uncertain significance Single submitter
- ASRGL1 p.Asn191Ser Uncertain significance Single submitter
- ASRGL1 p.Asn2Asp Uncertain significance Single submitter
- ASRGL1 p.Asn72Asp Uncertain significance Single submitter
- ASRGL1 p.Asp199Val Uncertain significance Single submitter
- ASRGL1 p.Asp212Asn Uncertain significance Single submitter
- ASRGL1 p.Asp298Glu Uncertain significance Single submitter
- ASRGL1 p.Asp301Asn Uncertain significance Single submitter
- ASRGL1 p.Asp83Asn Uncertain significance Single submitter
- ASRGL1 p.Cys202Tyr Uncertain significance Single submitter
- ASRGL1 p.Cys65Tyr Uncertain significance Single submitter
- ASRGL1 p.Gln163Arg Uncertain significance Single submitter
- ASRGL1 p.Glu154Gly Uncertain significance Single submitter
- ASRGL1 p.Gly11Arg Uncertain significance Single submitter
- ASRGL1 p.Gly13Ser Uncertain significance Single submitter
- ASRGL1 p.Gly195Ser Uncertain significance Single submitter
- ASRGL1 p.Gly207Ser Uncertain significance Single submitter
- ASRGL1 p.Gly220Arg Uncertain significance Single submitter
- ASRGL1 p.Gly272Glu Uncertain significance Single submitter
- ASRGL1 p.Gly36Asp Uncertain significance Single submitter
- ASRGL1 p.Gly66Val Uncertain significance Single submitter
- ASRGL1 p.His24Tyr Uncertain significance Single submitter
- ASRGL1 p.His294Gln Uncertain significance Single submitter
- ASRGL1 p.His294Tyr Uncertain significance Single submitter
- ASRGL1 p.His8Tyr Uncertain significance Single submitter
- ASRGL1 p.Ile297Val Uncertain significance Single submitter
- ASRGL1 p.Ile98Lys Uncertain significance Single submitter
- ASRGL1 p.Ile98Val Uncertain significance Single submitter
- ASRGL1 p.Leu230Pro Uncertain significance Single submitter
- ASRGL1 p.Lys145Arg Uncertain significance Single submitter
- ASRGL1 p.Lys152Arg Uncertain significance Single submitter
- ASRGL1 p.Lys85Asn Uncertain significance Single submitter
- ASRGL1 p.Met109Ile Uncertain significance Single submitter
- ASRGL1 p.Met193Ile Uncertain significance Single submitter
- ASRGL1 p.Pro284Ser Uncertain significance Single submitter
- ASRGL1 p.Pro299Ser Uncertain significance Single submitter
- ASRGL1 p.Ser251Leu Uncertain significance Single submitter
- ASRGL1 p.Ser67Phe Uncertain significance Single submitter
- ASRGL1 p.Thr118Ile Uncertain significance Single submitter
- ASRGL1 p.Thr160Arg Uncertain significance Single submitter
- ASRGL1 p.Thr184Asn Uncertain significance Single submitter
- ASRGL1 p.Thr184Pro Uncertain significance Single submitter
- ASRGL1 p.Thr302Ile Uncertain significance Single submitter
- ASRGL1 p.Val180Ile Uncertain significance Single submitter
- ASRGL1 p.Val190Ile Uncertain significance Single submitter
- ASRGL1 p.Val197Phe Uncertain significance Single submitter
- ASRGL1 p.Val275Ala Uncertain significance Single submitter
- ASRGL1 p.Val28Ile Uncertain significance Single submitter
Predictors split 74
The independent predictors disagree with each other — read with care.
- ASRGL1 p.Ala248Val Uncertain significance Multiple submitters
- ASRGL1 p.Ala94Thr Uncertain significance Multiple submitters
- ASRGL1 p.Arg106Gln Uncertain significance Multiple submitters
- ASRGL1 p.Arg147Cys Uncertain significance Multiple submitters
- ASRGL1 p.Arg19Gln Uncertain significance Multiple submitters
- ASRGL1 p.Arg29Gly Uncertain significance Multiple submitters
- ASRGL1 p.Arg39Trp Uncertain significance Multiple submitters
- ASRGL1 p.Asp306Asn Uncertain significance Multiple submitters
- ASRGL1 p.Asp306His Uncertain significance Multiple submitters
- ASRGL1 p.Asp57Gly Uncertain significance Multiple submitters
- ASRGL1 p.Glu149Gln Uncertain significance Multiple submitters
- ASRGL1 p.Gly291Arg Uncertain significance Multiple submitters
- ASRGL1 p.Leu87Gln Uncertain significance Multiple submitters
- ASRGL1 p.Lys17Arg Uncertain significance Multiple submitters
- ASRGL1 p.Lys242Arg Uncertain significance Multiple submitters
- ASRGL1 p.Lys242Gln Uncertain significance Multiple submitters
- ASRGL1 p.Lys292Arg Uncertain significance Multiple submitters
- ASRGL1 p.Met109Val Uncertain significance Multiple submitters
- ASRGL1 p.Phe236Val Uncertain significance Multiple submitters
- ASRGL1 p.Ser16Cys Uncertain significance Multiple submitters
- ASRGL1 p.Thr243Met Uncertain significance Multiple submitters
- ASRGL1 p.Trp274Gly Uncertain significance Multiple submitters
- ASRGL1 p.Tyr254Cys Uncertain significance Multiple submitters
- ASRGL1 p.Val267Met Uncertain significance Multiple submitters
- ASRGL1 p.Val33Met Benign Multiple submitters
- ASRGL1 p.Val6Met Uncertain significance Multiple submitters
- ASRGL1 p.Ala122Ser Uncertain significance Single submitter
- ASRGL1 p.Ala122Thr Uncertain significance Single submitter
- ASRGL1 p.Ala209Ser Uncertain significance Single submitter
- ASRGL1 p.Ala231Ser Uncertain significance Single submitter
- ASRGL1 p.Ala286Val Uncertain significance Single submitter
- ASRGL1 p.Ala288Thr Uncertain significance Single submitter
- ASRGL1 p.Ala44Thr Uncertain significance Single submitter
- ASRGL1 p.Ala94Ser Uncertain significance Single submitter
- ASRGL1 p.Ala99Thr Uncertain significance Single submitter
- ASRGL1 p.Arg147His Uncertain significance Single submitter
- ASRGL1 p.Arg19Leu Uncertain significance Single submitter
- ASRGL1 p.Arg232Gly Uncertain significance Single submitter
- ASRGL1 p.Asn211Ser Uncertain significance Single submitter
- ASRGL1 p.Asn229His Uncertain significance Single submitter
- ASRGL1 p.Asp161Asn Uncertain significance Single submitter
- ASRGL1 p.Asp210Asn Uncertain significance Single submitter
- ASRGL1 p.Asp273Asn Uncertain significance Single submitter
- ASRGL1 p.Asp306Glu Uncertain significance Single submitter
- ASRGL1 p.Asp46Gly Uncertain significance Single submitter
- ASRGL1 p.Cys176Arg Uncertain significance Single submitter
- ASRGL1 p.Cys97Phe Uncertain significance Single submitter
- ASRGL1 p.Gln124Pro Uncertain significance Single submitter
- ASRGL1 p.Gly130Arg Likely benign Single submitter
- ASRGL1 p.Gly156Cys Uncertain significance Single submitter
- ASRGL1 p.Gly167Glu Uncertain significance Single submitter
- ASRGL1 p.Gly26Ser Uncertain significance Single submitter
- ASRGL1 p.Gly34Ser Uncertain significance Single submitter
- ASRGL1 p.Gly42Arg Uncertain significance Single submitter
- ASRGL1 p.Gly42Trp Uncertain significance Single submitter
- ASRGL1 p.Ile102Met Uncertain significance Single submitter
- ASRGL1 p.Ile297Thr Uncertain significance Single submitter
- ASRGL1 p.Leu174Ser Uncertain significance Single submitter
- ASRGL1 p.Leu233Val Uncertain significance Single submitter
- ASRGL1 p.Leu55Val Uncertain significance Single submitter
- ASRGL1 p.Lys111Asn Uncertain significance Single submitter
- ASRGL1 p.Met129Val Likely benign Single submitter
- ASRGL1 p.Pro59Leu Uncertain significance Single submitter
- ASRGL1 p.Pro59Thr Uncertain significance Single submitter
- ASRGL1 p.Ser269Asn Uncertain significance Single submitter
- ASRGL1 p.Ser80Ile Uncertain significance Single submitter
- ASRGL1 p.Thr184Ser Uncertain significance Single submitter
- ASRGL1 p.Thr243Ala Uncertain significance Single submitter
- ASRGL1 p.Val108Ile Uncertain significance Single submitter
- ASRGL1 p.Val190Phe Uncertain significance Single submitter
- ASRGL1 p.Val197Ala Uncertain significance Single submitter
- ASRGL1 p.Val216Ile Uncertain significance Single submitter
- ASRGL1 p.Val23Met Uncertain significance Single submitter
- ASRGL1 p.Val75Ile Uncertain significance Single submitter
All ASRGL1 variants
Conflicting classifications of pathogenicity 2
- p.Ile238Val Single submitter ⚠
- p.Ile304Val Single submitter ⚠
Benign 12
- p.Ala209= Multiple submitters
- p.Asn165= Multiple submitters
- p.Lys289= Multiple submitters
- p.Val33Met Multiple submitters ⚠
- c.191-14_191-12del Single submitter
- c.334-14dup Single submitter
- c.722-4del Single submitter
- p.Ala54= Single submitter
- p.His8= Single submitter
- p.Ile266= Single submitter
- p.Phe125= Single submitter
- c.-9T>C No assertion criteria ASRGL1-related disorder
Likely benign 108
- p.Ala123= Multiple submitters
- p.Asp300= Multiple submitters
- p.Gln158Glu Multiple submitters
- p.Phe295= Multiple submitters
- p.Thr32= Multiple submitters
- c.190+11del Single submitter
- c.190+12T>C Single submitter
- c.190+15C>T Single submitter
- c.191-18A>C Single submitter
- c.333+15A>G Single submitter
- c.333+16G>A Single submitter
- c.333+18A>G Single submitter
- c.334-16T>C Single submitter
- c.334-18C>A Single submitter
- c.334-20_334-16del Single submitter
- c.334-20C>A Single submitter
- c.334-9C>T Single submitter
- c.334-9del Single submitter
- c.491+13T>G Single submitter
- c.491+17del Single submitter
- c.491+20C>T Single submitter
- c.492-17_492-16del Single submitter
- c.492-17C>G Single submitter
- c.492-7325G>A Single submitter
- c.492-9T>A Single submitter
- c.610+11G>A Single submitter
- c.610+13G>C Single submitter
- c.610+16G>A Single submitter
- c.610+8C>T Single submitter
- c.610+9A>G Single submitter
- c.611-13C>G Single submitter
- c.721+10C>A Single submitter
- c.721+11C>A Single submitter
- c.721+16G>A Single submitter
- c.722-10T>C Single submitter
- c.722-8G>C Single submitter
- p.Ala12= Single submitter
- p.Ala126= Single submitter
- p.Ala205= Single submitter
- p.Ala215= Single submitter
- p.Ala248= Single submitter
- p.Ala287= Single submitter
- p.Ala47= Single submitter
- p.Ala79= Single submitter
- p.Ala89= Single submitter
- p.Ala94= Single submitter
- p.Arg143= Single submitter
- p.Arg196= Single submitter
- p.Arg22= Single submitter
- p.Arg258= Single submitter
- p.Asn100= Single submitter
- p.Asn144= Single submitter
- p.Asp161= Single submitter
- p.Asp290= Single submitter
- p.Asp301= Single submitter
- p.Asp306= Single submitter
- p.Asp83= Single submitter
- p.Asp86= Single submitter
- p.Gln124= Single submitter
- p.Gln96Arg Single submitter
- p.Glu133= Single submitter
- p.Glu137= Single submitter
- p.Gly10= Single submitter
- p.Gly121= Single submitter
- p.Gly130Arg Single submitter ⚠
- p.Gly156= Single submitter
- p.Gly167= Single submitter
- p.Gly187= Single submitter
- p.Gly195= Single submitter
- p.Gly222= Single submitter
- p.Gly241= Single submitter
- p.Gly26= Single submitter
- p.Gly64= Single submitter
- p.Gly9= Single submitter
- p.Ile102= Single submitter
- p.Ile15= Single submitter
- p.Ile189= Single submitter
- p.Ile213= Single submitter
- p.Ile304= Single submitter
- p.Ile37= Single submitter
- p.Leu139= Single submitter
- p.Leu250= Single submitter
- p.Leu293= Single submitter
- p.Leu55= Single submitter
- p.Leu69= Single submitter
- p.Leu87= Single submitter
- p.Lys164= Single submitter
- p.Lys177= Single submitter
- p.Met129Val Single submitter ⚠
- p.Pro201= Single submitter
- p.Ser185= Single submitter
- p.Ser251= Single submitter
- p.Ser257= Single submitter
- p.Ser93= Single submitter
- p.Thr168= Single submitter
- p.Thr218= Single submitter
- p.Thr234= Single submitter
- p.Thr243= Single submitter
- p.Thr303= Single submitter
- p.Thr305= Single submitter
- p.Tyr254= Single submitter
- p.Val140= Single submitter
- p.Val180= Single submitter
- p.Val275= Single submitter
- p.Val33= Single submitter
- p.Val52= Single submitter
- p.Val68= Single submitter
- p.Val7= Single submitter
Uncertain significance 171
- p.Ala12Ser Multiple submitters ⚠
- p.Ala248Val Multiple submitters ⚠
- p.Ala94Thr Multiple submitters ⚠
- p.Arg106Gln Multiple submitters ⚠
- p.Arg147Cys Multiple submitters ⚠
- p.Arg196His Multiple submitters ⚠
- p.Arg19Gln Multiple submitters ⚠
- p.Arg232Lys Multiple submitters ⚠
- p.Arg258Ser Multiple submitters ⚠
- p.Arg29Gly Multiple submitters ⚠
- p.Arg39Trp Multiple submitters ⚠
- p.Asn70Lys Multiple submitters ⚠
- p.Asp306Asn Multiple submitters ⚠
- p.Asp306His Multiple submitters ⚠
- p.Asp57Gly Multiple submitters ⚠
- p.Cys162Gly Multiple submitters ⚠
- p.Glu149Gln Multiple submitters ⚠
- p.Glu154Asp Multiple submitters ⚠
- p.Gly136Glu Multiple submitters ⚠
- p.Gly214Arg Multiple submitters ⚠
- p.Gly26Cys Multiple submitters inherited retinal dystrophy ⚠
- p.Gly291Arg Multiple submitters ⚠
- p.Gly296Arg Multiple submitters ⚠
- p.Gly64Asp Multiple submitters ⚠
- p.Ile213Val Multiple submitters ⚠
- p.Leu87Gln Multiple submitters ⚠
- p.Lys17Arg Multiple submitters ⚠
- p.Lys242Arg Multiple submitters ⚠
- p.Lys242Gln Multiple submitters ⚠
- p.Lys292Arg Multiple submitters ⚠
- p.Met109Val Multiple submitters ⚠
- p.Phe236Val Multiple submitters ⚠
- p.Pro201Leu Multiple submitters ⚠
- p.Ser16Cys Multiple submitters ⚠
- p.Thr243Met Multiple submitters ⚠
- p.Trp274Gly Multiple submitters ⚠
- p.Tyr254Cys Multiple submitters ⚠
- p.Val169Met Multiple submitters ⚠
- p.Val197Ile Multiple submitters ⚠
- p.Val267Met Multiple submitters ⚠
- p.Val5Ile Multiple submitters ⚠
- p.Val6Met Multiple submitters ⚠
- c.191-18A>G Single submitter
- c.191-1G>C Single submitter
- c.333+3A>T Single submitter
- c.333+5A>G Single submitter
- c.333+6T>C Single submitter
- c.491+3_491+6del Single submitter
- c.491+3A>G Single submitter
- c.611-11T>G Single submitter
- c.722-3C>G Single submitter
- p.Ala105Asp Single submitter ⚠
- p.Ala122Ser Single submitter ⚠
- p.Ala122Thr Single submitter ⚠
- p.Ala123Val Single submitter ⚠
- p.Ala127Thr Single submitter ⚠
- p.Ala171Pro Single submitter ⚠
- p.Ala209Ser Single submitter ⚠
- p.Ala209Val Single submitter ⚠
- p.Ala231Ser Single submitter ⚠
- p.Ala286Val Single submitter ⚠
- p.Ala288Thr Single submitter ⚠
- p.Ala44Thr Single submitter ⚠
- p.Ala63= Single submitter
- p.Ala94Ser Single submitter ⚠
- p.Ala99Glu Single submitter ⚠
- p.Ala99Thr Single submitter ⚠
- p.Arg147His Single submitter ⚠
- p.Arg147Leu Single submitter ⚠
- p.Arg196Cys Single submitter ⚠
- p.Arg19Leu Single submitter ⚠
- p.Arg232Gly Single submitter ⚠
- p.Arg232Thr Single submitter ⚠
- p.Arg258Lys Single submitter ⚠
- p.Arg39Gln Single submitter ⚠
- p.Asn144Lys Single submitter ⚠
- p.Asn191Ser Single submitter ⚠
- p.Asn211Ser Single submitter ⚠
- p.Asn229His Single submitter ⚠
- p.Asn2Asp Single submitter ⚠
- p.Asn72Asp Single submitter ⚠
- p.Asp161Asn Single submitter ⚠
- p.Asp199Val Single submitter ⚠
- p.Asp210Asn Single submitter ⚠
- p.Asp212Asn Single submitter ⚠
- p.Asp273Asn Single submitter ⚠
- p.Asp298Glu Single submitter ⚠
- p.Asp301Asn Single submitter ⚠
- p.Asp306Glu Single submitter ⚠
- p.Asp46Gly Single submitter ⚠
- p.Asp83Asn Single submitter ⚠
- p.Cys176Arg Single submitter ⚠
- p.Cys202Tyr Single submitter ⚠
- p.Cys65Tyr Single submitter ⚠
- p.Cys97Phe Single submitter ⚠
- p.Gln124Pro Single submitter ⚠
- p.Gln163Arg Single submitter ⚠
- p.Glu110Ter Single submitter
- p.Glu154Gly Single submitter ⚠
- p.Gly11Arg Single submitter ⚠
- p.Gly13Ser Single submitter ⚠
- p.Gly156Cys Single submitter ⚠
- p.Gly156fs Single submitter
- p.Gly167Glu Single submitter ⚠
- p.Gly195Ser Single submitter ⚠
- p.Gly207Ser Single submitter ⚠
- p.Gly220Arg Single submitter ⚠
- p.Gly26Ser Single submitter ⚠
- p.Gly272Glu Single submitter ⚠
- p.Gly291= Single submitter
- p.Gly34Ser Single submitter ⚠
- p.Gly36Asp Single submitter ⚠
- p.Gly42Arg Single submitter ⚠
- p.Gly42Trp Single submitter ⚠
- p.Gly66Val Single submitter ⚠
- p.His24Tyr Single submitter ⚠
- p.His294Gln Single submitter ⚠
- p.His294Tyr Single submitter ⚠
- p.His8Tyr Single submitter ⚠
- p.Ile102Met Single submitter ⚠
- p.Ile297Thr Single submitter ⚠
- p.Ile297Val Single submitter ⚠
- p.Ile304fs Single submitter
- p.Ile98Lys Single submitter ⚠
- p.Ile98Val Single submitter ⚠
- p.Leu174Ser Single submitter ⚠
- p.Leu230Pro Single submitter ⚠
- p.Leu233Val Single submitter ⚠
- p.Leu55Val Single submitter ⚠
- p.Lys111Asn Single submitter ⚠
- p.Lys145Arg Single submitter ⚠
- p.Lys152Arg Single submitter ⚠
- p.Lys242= Single submitter
- p.Lys85Asn Single submitter ⚠
- p.Met109Ile Single submitter ⚠
- p.Met193Ile Single submitter ⚠
- p.Pro135fs Single submitter
- p.Pro284Ser Single submitter ⚠
- p.Pro299Ser Single submitter ⚠
- p.Pro59Leu Single submitter ⚠
- p.Pro59Thr Single submitter ⚠
- p.Ser251Leu Single submitter ⚠
- p.Ser269Asn Single submitter ⚠
- p.Ser67Phe Single submitter ⚠
- p.Ser80Ile Single submitter ⚠
- p.Ter309Ser Single submitter
- p.Thr118Ile Single submitter ⚠
- p.Thr160Arg Single submitter ⚠
- p.Thr184Asn Single submitter ⚠
- p.Thr184Pro Single submitter ⚠
- p.Thr184Ser Single submitter ⚠
- p.Thr243Ala Single submitter ⚠
- p.Thr302Ile Single submitter ⚠
- p.Thr303del Single submitter
- p.Trp278Ter Single submitter
- p.Trp285Ter Single submitter
- p.Val108Ile Single submitter ⚠
- p.Val131fs Single submitter
- p.Val180Ile Single submitter ⚠
- p.Val190Ile Single submitter ⚠
- p.Val190Phe Single submitter ⚠
- p.Val197Ala Single submitter ⚠
- p.Val197Phe Single submitter ⚠
- p.Val216Ile Single submitter ⚠
- p.Val23Met Single submitter ⚠
- p.Val275Ala Single submitter ⚠
- p.Val28Ile Single submitter ⚠
- p.Val33fs Single submitter
- p.Val48_Pro59del Single submitter
- p.Val75Ile Single submitter ⚠
- c.191-1G>A No assertion criteria inherited retinal dystrophy