GLE1 — 718 ClinVar variants
All ClinVar germline GLE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 120 flagged for review →
60 Pathogenic · 23 Pathogenic/Likely pathogenic · 59 Likely pathogenic · 20 Conflicting · 29 Benign · 4 Benign/Likely benign · 383 Likely benign · 140 Uncertain significance
Full GLE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 120
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.
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GLE1 p.Arg584Trp
Pathogenic/Likely pathogenic
Multiple submitters
Lethal congenital contractural syndrome Finnish type
Predictors agree, ClinVar conflicts 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GLE1 p.Asp18Glu
Conflicting
Single submitter
lethal arthrogryposis-anterior horn cell disease syndrome
-
GLE1 p.Asp275Asn
Conflicting
Single submitter
lethal arthrogryposis-anterior horn cell disease syndrome
-
GLE1 p.Cys39Tyr
Conflicting
Single submitter
lethal congenital contracture syndrome 1
-
GLE1 p.Pro2Arg
Conflicting
Single submitter
lethal arthrogryposis-anterior horn cell disease syndrome
-
GLE1 p.Pro363Ser
Conflicting
Single submitter
Inborn genetic diseases
-
GLE1 p.Ser465Thr
Conflicting
Single submitter
lethal arthrogryposis-anterior horn cell disease syndrome
-
GLE1 p.Val132Ile
Conflicting
Single submitter
Inborn genetic diseases
-
GLE1 p.Val56Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 89
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GLE1 p.Arg26Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GLE1 p.Arg575His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GLE1 p.Asp474Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GLE1 p.Met191Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GLE1 p.Pro357Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GLE1 p.Pro370Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GLE1 p.Pro43Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GLE1 p.Ala165Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Ala250Val
Uncertain significance
Single submitter
lethal arthrogryposis-anterior horn cell disease syndrome
-
GLE1 p.Ala425Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Ala503Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GLE1 p.Ala632Thr Uncertain significance Single submitter
-
GLE1 p.Ala91Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Ala91Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Arg188Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Arg196Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- GLE1 p.Arg21Cys Uncertain significance Single submitter
-
GLE1 p.Arg237Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Arg244Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Arg244Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Arg246Gln
Uncertain significance
Single submitter
lethal arthrogryposis-anterior horn cell disease syndrome
-
GLE1 p.Arg282Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Arg313Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Arg316Gln
Uncertain significance
Single submitter
lethal congenital contracture syndrome 1
-
GLE1 p.Arg316Trp
Uncertain significance
Single submitter
lethal congenital contracture syndrome 1
-
GLE1 p.Arg31Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Arg462Cys
Uncertain significance
Single submitter
lethal congenital contracture syndrome 1
- GLE1 p.Arg670Leu Uncertain significance Single submitter
-
GLE1 p.Arg697His
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Asn409Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Asp186Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Asp186Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Asp27His
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Asp34Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Asp518Glu
Uncertain significance
Single submitter
lethal congenital contracture syndrome 1
-
GLE1 p.Gln121Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Gln242His
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Gln285His
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Gln477Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Gln477Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Gln81His
Uncertain significance
Single submitter
Inborn genetic diseases
- GLE1 p.Glu192Gly Uncertain significance Single submitter
-
GLE1 p.Glu224Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Glu310Lys
Uncertain significance
Single submitter
lethal congenital contracture syndrome 1
-
GLE1 p.Glu443Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Glu489Lys
Uncertain significance
Single submitter
amyotrophic lateral sclerosis
-
GLE1 p.Gly508Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Gly5Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Gly601Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GLE1 p.Gly666Val Uncertain significance Single submitter
-
GLE1 p.His523Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Ile385Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Ile418Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Ile656Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Leu315Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Leu36Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Leu468Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- GLE1 p.Leu468Phe Uncertain significance Single submitter
-
GLE1 p.Leu519Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Leu544Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Lys127Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Lys176Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Lys568Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Met191Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Met398Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GLE1 p.Met60Val Uncertain significance Single submitter
-
GLE1 p.Phe690Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Phe84Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Ser162Leu
Uncertain significance
Single submitter
lethal congenital contracture syndrome 1
-
GLE1 p.Ser413Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Ser434Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Ser693Phe
Uncertain significance
Single submitter
amyotrophic lateral sclerosis
-
GLE1 p.Thr106Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Thr106Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Thr10Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Val274Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Arg244His
Uncertain significance
No assertion criteria
Lethal congenital contractural syndrome Finnish type
-
GLE1 p.Asp395His
Uncertain significance
No assertion criteria
Lethal congenital contractural syndrome Finnish type
-
GLE1 p.Glu163Gln
Uncertain significance
No assertion criteria
lethal arthrogryposis-anterior horn cell disease syndrome
-
GLE1 p.Gly541Val
Uncertain significance
No assertion criteria
Lethal congenital contractural syndrome Finnish type
-
GLE1 p.Ile294Met
Uncertain significance
No assertion criteria
Lethal congenital contractural syndrome Finnish type
-
GLE1 p.Leu187Phe
Uncertain significance
No assertion criteria
Lethal congenital contractural syndrome Finnish type
-
GLE1 p.Leu216Phe
Uncertain significance
No assertion criteria
Lethal congenital contractural syndrome Finnish type
-
GLE1 p.Lys127Thr
Uncertain significance
No assertion criteria
lethal arthrogryposis-anterior horn cell disease syndrome
-
GLE1 p.Lys568Arg
Uncertain significance
No assertion criteria
Lethal congenital contractural syndrome Finnish type
-
GLE1 p.Met665Arg
Uncertain significance
No assertion criteria
Lethal congenital contractural syndrome Finnish type
-
GLE1 p.Ser301Arg
Uncertain significance
No assertion criteria
Lethal congenital contractural syndrome Finnish type
-
GLE1 p.Ser494Cys
Uncertain significance
No assertion criteria
Lethal congenital contractural syndrome Finnish type
-
GLE1 p.Val380Ala
Uncertain significance
No assertion criteria
lethal arthrogryposis-anterior horn cell disease syndrome
Predictors split 22
The independent predictors disagree with each other — read with care.
-
GLE1 p.Arg227Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GLE1 p.Glu334Lys
Benign/Likely benign
Multiple submitters
lethal arthrogryposis-anterior horn cell disease syndrome
- GLE1 p.Val464Ala Uncertain significance Multiple submitters
- GLE1 p.Arg319Trp Uncertain significance Single submitter
-
GLE1 p.Arg338Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- GLE1 p.Arg603His Uncertain significance Single submitter
-
GLE1 p.Arg697Cys
Uncertain significance
Single submitter
GLE1-related disorder
-
GLE1 p.Glu234Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Glu240Gly
Uncertain significance
Single submitter
lethal arthrogryposis-anterior horn cell disease syndrome
-
GLE1 p.Glu612Val
Uncertain significance
Single submitter
lethal congenital contracture syndrome 1
-
GLE1 p.Ile293Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- GLE1 p.Phe404Ser Uncertain significance Single submitter
- GLE1 p.Phe695Ser Conflicting Single submitter
-
GLE1 p.Pro456Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Pro613Thr
Conflicting
Single submitter
Inborn genetic diseases
-
GLE1 p.Ser17Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLE1 p.Ser531Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- GLE1 p.Ser698Phe Uncertain significance Single submitter
-
GLE1 p.Arg156Trp
Uncertain significance
No assertion criteria
Lethal congenital contractural syndrome Finnish type
-
GLE1 p.Leu271Pro
Uncertain significance
No assertion criteria
Lethal congenital contractural syndrome Finnish type
-
GLE1 p.Met611Ile
Uncertain significance
No assertion criteria
Lethal congenital contractural syndrome Finnish type
-
GLE1 p.Pro533Ala
Uncertain significance
No assertion criteria
Lethal congenital contractural syndrome Finnish type
All GLE1 variants
Pathogenic 60
- c.433-10A>G Multiple submitters Lethal congenital contractural syndrome Finnish type
- p.Val617Met Multiple submitters Lethal congenital contractural syndrome Finnish type
- c.1882-1G>T Single submitter Lethal congenital contractural syndrome Finnish type
- c.1882-2A>G Single submitter lethal arthrogryposis-anterior horn cell disease syndrome
- c.2028+2T>C Single submitter
- p.Ala278fs Single submitter
- p.Ala425fs Single submitter
- p.Arg188fs Single submitter
- p.Arg210fs Single submitter
- p.Arg331fs Single submitter
- p.Arg670fs Single submitter
- p.Asp110fs Single submitter
- p.Asp624Ter Single submitter
- p.Asp651fs Single submitter
- p.Cys333Ter Single submitter
- p.Gln225Ter Single submitter
- p.Gln242Ter Single submitter
- p.Gln261Ter Single submitter
- p.Gln285Ter Single submitter
- p.Gln308fs Single submitter
- p.Gln327fs Single submitter
- p.Gln374Ter Single submitter
- p.Gln383fs Single submitter
- p.Gln423Ter Single submitter
- p.Gln471Ter Single submitter
- p.Gln548Ter Single submitter
- p.Gln582Ter Single submitter
- p.Glu136fs Single submitter
- p.Glu189Ter Single submitter
- p.Glu192fs Single submitter
- p.Glu197fs Single submitter
- p.Glu232Ter Single submitter
- p.Glu33fs Single submitter
- p.Glu33Ter Single submitter
- p.Gly454Ter Single submitter
- p.Ile126fs Single submitter
- p.Ile385fs Single submitter
- p.Ile418fs Single submitter
- p.Ile433fs Single submitter
- p.Ile436fs Single submitter
- p.Leu272fs Single submitter
- p.Leu451fs Single submitter
- p.Lys479fs Single submitter
- p.Lys635Ter Single submitter
- p.Met40fs Single submitter
- p.Phe445fs Single submitter
- p.Ser67fs Single submitter
- p.Thr304fs Single submitter
- p.Thr427fs Single submitter
- p.Thr618fs Single submitter
- p.Trp150_Glu153delinsTer Single submitter
- p.Trp175fs Single submitter
- p.Trp389Ter Single submitter
- p.Trp604Ter Single submitter
- p.Trp642Ter Single submitter
- p.Tyr249fs Single submitter
- p.Tyr390Ter Single submitter
- p.Val346_Lys347insTrpProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluGluAlaGlnVal Single submitter
- p.Val52_Val53insTer Single submitter
- c.100-7_100-3del No assertion criteria lethal arthrogryposis-anterior horn cell disease syndrome
Pathogenic/Likely pathogenic 23
- p.Ala365fs Multiple submitters
- p.Arg133Ter Multiple submitters Lethal congenital contractural syndrome Finnish type
- p.Arg282Ter Multiple submitters Lethal congenital contractural syndrome Finnish type
- p.Arg313Ter Multiple submitters Lethal congenital contractural syndrome Finnish type
- p.Arg569His Multiple submitters Lethal congenital contractural syndrome Finnish type
- p.Arg584Trp Multiple submitters Lethal congenital contractural syndrome Finnish type ⚠
- p.Arg590Ter Multiple submitters Lethal congenital contractural syndrome Finnish type
- p.Gln121fs Multiple submitters lethal arthrogryposis-anterior horn cell disease syndrome
- p.Gln252fs Multiple submitters Lethal congenital contractural syndrome Finnish type
- p.Gln352Ter Multiple submitters Lethal congenital contractural syndrome Finnish type
- p.Gln379fs Multiple submitters Lethal congenital contractural syndrome Finnish type
- p.Gln563fs Multiple submitters GLE1-related disorder
- p.Gln591Ter Multiple submitters Lethal congenital contractural syndrome Finnish type
- p.Gln636Ter Multiple submitters Lethal congenital contractural syndrome Finnish type
- p.Gln81Ter Multiple submitters lethal congenital contracture syndrome 1
- p.Glu38Ter Multiple submitters Lethal congenital contractural syndrome Finnish type
- p.Leu402fs Multiple submitters lethal arthrogryposis-anterior horn cell disease syndrome
- p.Lys336fs Multiple submitters Lethal congenital contractural syndrome Finnish type
- p.Thr660fs Multiple submitters Lethal congenital contractural syndrome Finnish type
- p.Trp150Ter Multiple submitters lethal arthrogryposis-anterior horn cell disease syndrome
- p.Trp51Ter Multiple submitters Lethal congenital contractural syndrome Finnish type
- p.Val158fs Multiple submitters lethal congenital contracture syndrome 1
- p.Val228fs Multiple submitters Lethal congenital contractural syndrome Finnish type
Likely pathogenic 59
- c.1881+1G>T Multiple submitters lethal arthrogryposis-anterior horn cell disease syndrome
- c.1964+2T>C Multiple submitters Lethal congenital contractural syndrome Finnish type
- c.2029-1G>A Multiple submitters Lethal congenital contractural syndrome Finnish type
- p.Gln257fs Multiple submitters Lethal congenital contractural syndrome Finnish type
- p.Gln673fs Multiple submitters lethal congenital contracture syndrome 1
- p.Gly143fs Multiple submitters lethal arthrogryposis-anterior horn cell disease syndrome
- p.Gly597Asp Multiple submitters Lethal congenital contractural syndrome Finnish type
- c.100-1G>A Single submitter Lethal congenital contractural syndrome Finnish type
- c.1129+1G>C Single submitter
- c.1130-1G>C Single submitter
- c.1242+1G>A Single submitter
- c.1243-2A>G Single submitter
- c.1312+1G>A Single submitter
- c.1312+2T>C Single submitter
- c.1456-1G>A Single submitter lethal congenital contracture syndrome 1
- c.1647-1G>C Single submitter
- c.1776+2T>G Single submitter
- c.1777-1G>C Single submitter
- c.1881+2T>C Single submitter
- c.1964+2T>G Single submitter
- c.1965-1G>C Single submitter
- c.1965-1G>T Single submitter Lethal congenital contractural syndrome Finnish type
- c.1965-2A>G Single submitter
- c.321+2T>G Single submitter
- c.322-1G>A Single submitter
- c.432+2T>C Single submitter
- c.581+1G>T Single submitter
- c.581+2T>C Single submitter
- c.642+1G>A Single submitter
- c.643-2A>G Single submitter
- c.897+1G>A Single submitter Lethal congenital contractural syndrome Finnish type
- p.Ala578fs Single submitter Lethal congenital contractural syndrome Finnish type
- p.Gln151Ter Single submitter
- p.Gln154Ter Single submitter Lethal congenital contractural syndrome Finnish type
- p.Gln185fs Single submitter lethal arthrogryposis-anterior horn cell disease syndrome
- p.Gln252Ter Single submitter Lethal congenital contractural syndrome Finnish type
- p.Gln327Ter Single submitter lethal congenital contracture syndrome 1
- p.Gln354Ter Single submitter Lethal congenital contractural syndrome Finnish type
- p.Gln399fs Single submitter GLE1-related disorder
- p.Gln477Ter Single submitter Lethal congenital contractural syndrome Finnish type
- p.Glu177fs Single submitter Lethal congenital contractural syndrome Finnish type
- p.Glu341Ter Single submitter lethal congenital contracture syndrome 1
- p.His525fs Single submitter Lethal congenital contractural syndrome Finnish type
- p.Ile428fs Single submitter Lethal congenital contractural syndrome Finnish type
- p.Ile502fs Single submitter Lethal congenital contractural syndrome Finnish type
- p.Leu218fs Single submitter lethal arthrogryposis-anterior horn cell disease syndrome
- p.Leu633fs Single submitter Lethal congenital contractural syndrome Finnish type
- p.Leu679fs Single submitter Lethal congenital contractural syndrome Finnish type
- p.Lys347Ter Single submitter Lethal congenital contractural syndrome Finnish type
- p.Lys559fs Single submitter lethal congenital contracture syndrome 1
- p.Lys649fs Single submitter Lethal congenital contractural syndrome Finnish type
- p.Met1fs Single submitter Lethal congenital contractural syndrome Finnish type
- p.Met1Val Single submitter Lethal congenital contractural syndrome Finnish type
- p.Pro89fs Single submitter lethal congenital contracture syndrome 1
- p.Ser571Ter Single submitter lethal congenital contracture syndrome 1
- p.Ser75Ter Single submitter lethal arthrogryposis-anterior horn cell disease syndrome
- p.Trp602Ter Single submitter
- p.Val128fs Single submitter
- p.Val492fs Single submitter Lethal congenital contractural syndrome Finnish type
Conflicting classifications of pathogenicity 20
- c.1130-15T>C Single submitter lethal congenital contracture syndrome 1
- c.1243-5G>A Single submitter lethal congenital contracture syndrome 1
- c.1882-8C>G Single submitter lethal arthrogryposis-anterior horn cell disease syndrome
- c.1964+8G>T Single submitter lethal arthrogryposis-anterior horn cell disease syndrome
- c.2028+1G>A Single submitter Lethal congenital contractural syndrome Finnish type
- c.2029-5A>G Single submitter lethal arthrogryposis-anterior horn cell disease syndrome
- c.643-4A>G Single submitter lethal congenital contracture syndrome 1
- c.-45T>C Single submitter lethal arthrogryposis-anterior horn cell disease syndrome
- p.Asp18Glu Single submitter lethal arthrogryposis-anterior horn cell disease syndrome ⚠
- p.Asp275Asn Single submitter lethal arthrogryposis-anterior horn cell disease syndrome ⚠
- p.Cys39Tyr Single submitter lethal congenital contracture syndrome 1 ⚠
- p.Leu149= Single submitter
- p.Phe695Ser Single submitter ⚠
- p.Pro2Arg Single submitter lethal arthrogryposis-anterior horn cell disease syndrome ⚠
- p.Pro363Ser Single submitter Inborn genetic diseases ⚠
- p.Pro613Thr Single submitter Inborn genetic diseases ⚠
- p.Ser465Thr Single submitter lethal arthrogryposis-anterior horn cell disease syndrome ⚠
- p.Tyr547= Single submitter lethal arthrogryposis-anterior horn cell disease syndrome
- p.Val132Ile Single submitter Inborn genetic diseases ⚠
- p.Val56Ile Single submitter Inborn genetic diseases ⚠
Benign 29
- c.1242+30G>T Multiple submitters lethal arthrogryposis-anterior horn cell disease syndrome
- c.1647-44A>G Multiple submitters lethal arthrogryposis-anterior horn cell disease syndrome
- c.1777-122G>A Multiple submitters
- c.1777-197A>G Multiple submitters
- c.322-35_322-29del Multiple submitters
- c.898-119C>T Multiple submitters
- c.99+29C>G Multiple submitters lethal arthrogryposis-anterior horn cell disease syndrome
- c.*181C>A Multiple submitters lethal arthrogryposis-anterior horn cell disease syndrome
- p.Ile243Val Multiple submitters lethal arthrogryposis-anterior horn cell disease syndrome
- c.1129+254C>T Single submitter
- c.1129+323G>A Single submitter
- c.1130-297C>A Single submitter
- c.1776+243A>G Single submitter
- c.1881+170T>C Single submitter
- c.1882-244T>C Single submitter
- c.2028+20_2028+29del Single submitter
- c.432+328dup Single submitter
- c.433-10del Single submitter
- c.433-11_433-10del Single submitter
- c.433-12_433-10del Single submitter
- c.433-13_433-10del Single submitter
- c.433-4del Single submitter
- c.897+10dup Single submitter
- c.99+15del Single submitter
- c.99+83C>G Single submitter
- c.*1005T>C Single submitter lethal arthrogryposis-anterior horn cell disease syndrome
- p.Arg148= Single submitter
- p.Thr74= Single submitter
- c.433-11_433-10dup No assertion criteria GLE1-related disorder
Benign/Likely benign 4
- c.433-15A>C Multiple submitters lethal arthrogryposis-anterior horn cell disease syndrome
- c.897+16G>A Multiple submitters
- p.Glu334Lys Multiple submitters lethal arthrogryposis-anterior horn cell disease syndrome ⚠
- p.Tyr577= Multiple submitters lethal congenital contracture syndrome 1
Likely benign 383
Showing the top 300 by review status; the full set is in the sitemap.
- c.1312+41G>A Multiple submitters
- c.1776+272A>G Multiple submitters
- c.432+18_432+19dup Multiple submitters
- c.433-10A>C Multiple submitters
- c.582-135C>A Multiple submitters
- c.582-136G>A Multiple submitters
- p.Pro58= Multiple submitters
- c.100-10T>G Single submitter
- c.100-16C>T Single submitter
- c.100-18C>A Single submitter
- c.100-8T>C Single submitter
- c.1129+10A>C Single submitter
- c.1129+11G>A Single submitter
- c.1129+12T>A Single submitter
- c.1129+16G>A Single submitter
- c.1130-11_1130-10del Single submitter
- c.1130-14_1130-10del Single submitter
- c.1130-14C>T Single submitter
- c.1130-18CT[2] Single submitter
- c.1130-5C>T Single submitter
- c.1130-9A>C Single submitter
- c.1242+13T>C Single submitter
- c.1242+20C>A Single submitter
- c.1242+7G>A Single submitter
- c.1242+9G>A Single submitter
- c.1243-10C>T Single submitter
- c.1243-12C>G Single submitter
- c.1243-15G>C Single submitter
- c.1243-15G>T Single submitter
- c.1243-6T>C Single submitter
- c.1312+11G>A Single submitter
- c.1312+12G>C Single submitter
- c.1313-11A>G Single submitter
- c.1313-12T>C Single submitter
- c.1313-17C>A Single submitter
- c.1313-19T>C Single submitter
- c.1313-7T>C Single submitter
- c.1313-83A>G Single submitter
- c.1313-8A>G Single submitter
- c.1455+11T>C Single submitter
- c.1455+13G>T Single submitter
- c.1455+8A>G Single submitter
- c.1456-12C>T Single submitter
- c.1456-13T>G Single submitter
- c.1456-15C>A Single submitter
- c.1456-15C>T Single submitter
- c.1456-17C>T Single submitter
- c.1456-19C>T Single submitter
- c.1456-20A>G Single submitter
- c.1456-4T>C Single submitter
- c.1456-9T>C Single submitter
- c.1646+10T>C Single submitter
- c.1646+12T>G Single submitter
- c.1646+14T>A Single submitter
- c.1646+14T>C Single submitter
- c.1646+18C>T Single submitter
- c.1646+7T>C Single submitter
- c.1646+8T>A Single submitter
- c.1646+9G>C Single submitter
- c.1647-13T>C Single submitter
- c.1647-17T>G Single submitter
- c.1647-20A>G Single submitter
- c.1647-4A>G Single submitter
- c.1647-6G>A Single submitter
- c.1647-7C>T Single submitter lethal arthrogryposis-anterior horn cell disease syndrome
- c.1776+10A>G Single submitter
- c.1776+17T>C Single submitter
- c.1776+19C>T Single submitter
- c.1776+7A>T Single submitter
- c.1777-15C>T Single submitter
- c.1777-16G>T Single submitter
- c.1777-19C>A Single submitter
- c.1777-6T>C Single submitter
- c.1777-7C>T Single submitter
- c.1881+11C>A Single submitter
- c.1881+12A>G Single submitter
- c.1881+17T>C Single submitter
- c.1881+18C>T Single submitter
- c.1881+9C>A Single submitter
- c.1882-136G>A Single submitter
- c.1882-18G>T Single submitter
- c.1882-19T>G Single submitter
- c.1882-20G>A Single submitter
- c.1882-4C>G Single submitter
- c.1882-4C>T Single submitter
- c.1882-7C>T Single submitter
- c.1882-9_1882-8insGG Single submitter
- c.1882-9T>A Single submitter
- c.1964+12G>A Single submitter
- c.1964+13T>C Single submitter
- c.1964+15G>A Single submitter
- c.1964+17G>A Single submitter
- c.1964+18dup Single submitter
- c.1964+7G>A Single submitter
- c.1964+7G>C Single submitter
- c.1964+8G>A Single submitter
- c.1964+9C>A Single submitter
- c.1965-12C>G Single submitter
- c.1965-14_1965-13del Single submitter
- c.1965-18G>A Single submitter
- c.1965-4G>A Single submitter
- c.1965-6C>T Single submitter
- c.2028+140C>G Single submitter
- c.2028+20A>G Single submitter
- c.2028+9C>T Single submitter
- c.2029-10C>T Single submitter
- c.2029-14C>A Single submitter
- c.2029-15T>C Single submitter
- c.2029-17C>T Single submitter
- c.2029-20C>T Single submitter
- c.2029-4C>A Single submitter
- c.2029-73T>G Single submitter
- c.321+16G>C Single submitter
- c.321+17C>T Single submitter
- c.321+8T>A Single submitter
- c.322-17A>C Single submitter
- c.322-198T>G Single submitter
- c.322-20T>C Single submitter
- c.322-5T>C Single submitter
- c.322-7C>T Single submitter
- c.322-8T>A Single submitter
- c.322-9C>A Single submitter
- c.432+105C>T Single submitter
- c.432+10C>A Single submitter
- c.432+10C>G Single submitter
- c.432+11C>A Single submitter
- c.432+163_432+164del Single submitter
- c.432+210G>A Single submitter
- c.433-10_433-9del Single submitter
- c.433-10A>T Single submitter
- c.433-11A>C Single submitter
- c.433-12_433-9del Single submitter
- c.433-12A>C Single submitter
- c.433-13A>G Single submitter
- c.433-14A>C Single submitter
- c.433-16A>C Single submitter
- c.433-17A>C Single submitter
- c.433-18A>C Single submitter
- c.433-18A>G Single submitter
- c.433-19A>C Single submitter
- c.433-20A>C Single submitter
- c.433-22_433-10del Single submitter
- c.433-6T>C Single submitter
- c.433-7T>C Single submitter
- c.433-8C>T Single submitter
- c.581+19T>C Single submitter
- c.581+7C>T Single submitter
- c.581+8T>G Single submitter
- c.581+9C>T Single submitter
- c.582-18C>T Single submitter
- c.582-6A>C Single submitter
- c.582-7C>T Single submitter
- c.582-8T>G Single submitter
- c.582-9T>C Single submitter
- c.642+11G>A Single submitter
- c.642+12G>T Single submitter
- c.642+17A>G Single submitter
- c.642+7G>T Single submitter
- c.642+8C>T Single submitter
- c.643-11C>G Single submitter
- c.643-7T>C Single submitter
- c.897+10G>C Single submitter
- c.897+11C>T Single submitter
- c.897+15A>C Single submitter
- c.897+19T>C Single submitter
- c.897+8G>A Single submitter
- c.898-11C>T Single submitter
- c.898-13G>A Single submitter
- c.898-14C>T Single submitter
- c.898-15C>T Single submitter
- c.898-18T>C Single submitter
- c.99+10G>A Single submitter
- c.99+13C>T Single submitter
- c.99+14C>G Single submitter
- c.99+15C>G Single submitter
- c.99+15C>T Single submitter
- c.99+7G>T Single submitter
- c.*15C>T Single submitter
- p.Ala101= Single submitter
- p.Ala165= Single submitter
- p.Ala207= Single submitter
- p.Ala231= Single submitter
- p.Ala247= Single submitter
- p.Ala264= Single submitter
- p.Ala278= Single submitter
- p.Ala314= Single submitter
- p.Ala332= Single submitter
- p.Ala396= Single submitter
- p.Ala481= Single submitter
- p.Ala493= Single submitter
- p.Ala498= Single submitter
- p.Ala499= Single submitter
- p.Ala503= Single submitter
- p.Ala619= Single submitter
- p.Ala76Thr Single submitter Inborn genetic diseases
- p.Ala78= Single submitter
- p.Ala94= Single submitter
- p.Ala98= Single submitter
- p.Arg124= Single submitter
- p.Arg171= Single submitter
- p.Arg188= Single submitter
- p.Arg188Gln Single submitter Inborn genetic diseases
- p.Arg21= Single submitter
- p.Arg212= Single submitter
- p.Arg227= Single submitter
- p.Arg235= Single submitter
- p.Arg295= Single submitter
- p.Arg316= Single submitter
- p.Arg338= Single submitter
- p.Arg462= Single submitter
- p.Arg515= Single submitter
- p.Arg6= Single submitter
- p.Asn375= Single submitter
- p.Asn409= Single submitter
- p.Asn599= Single submitter
- p.Asp173= Single submitter
- p.Asp186= Single submitter
- p.Asp275= Single submitter
- p.Asp34= Single submitter
- p.Asp340= Single submitter
- p.Asp412= Single submitter
- p.Asp421= Single submitter
- p.Asp564= Single submitter
- p.Asp616= Single submitter
- p.Asp683= Single submitter
- p.Asp90= Single submitter lethal arthrogryposis-anterior horn cell disease syndrome
- p.Cys131= Single submitter
- p.Cys333= Single submitter
- p.Cys528= Single submitter
- p.Gln180= Single submitter
- p.Gln230= Single submitter
- p.Gln257= Single submitter
- p.Gln267= Single submitter
- p.Gln349= Single submitter
- p.Gln379= Single submitter
- p.Gln388= Single submitter
- p.Gln399= Single submitter
- p.Gln562= Single submitter
- p.Gln591= Single submitter
- p.Gln64= Single submitter
- p.Gln673= Single submitter
- p.Glu136= Single submitter
- p.Glu163= Single submitter
- p.Glu177= Single submitter
- p.Glu224= Single submitter
- p.Glu234= Single submitter
- p.Glu239= Single submitter
- p.Glu266= Single submitter
- p.Glu342= Single submitter
- p.Glu362= Single submitter
- p.Glu37= Single submitter
- p.Glu405= Single submitter
- p.Glu489= Single submitter
- p.Glu490= Single submitter
- p.Glu54= Single submitter
- p.Gly326= Single submitter
- p.Gly356= Single submitter
- p.Gly369= Single submitter
- p.Gly406= Single submitter
- p.Gly438= Single submitter
- p.Gly472= Single submitter
- p.Gly488= Single submitter
- p.Gly50= Single submitter
- p.Gly508= Single submitter
- p.Gly597= Single submitter
- p.Gly630= Single submitter
- p.Gly689= Single submitter
- p.His139Tyr Single submitter amyotrophic lateral sclerosis
- p.His209= Single submitter
- p.His211= Single submitter
- p.His360= Single submitter
- p.His55= Single submitter
- p.His59= Single submitter
- p.His600= Single submitter
- p.Ile215= Single submitter
- p.Ile433= Single submitter
- p.Ile448= Single submitter
- p.Ile580= Single submitter
- p.Ile581= Single submitter
- p.Ile608= Single submitter
- p.Ile659= Single submitter
- p.Leu11= Single submitter
- p.Leu137= Single submitter
- p.Leu147= Single submitter
- p.Leu161= Single submitter
- p.Leu169= Single submitter
- p.Leu187= Single submitter
- p.Leu205= Single submitter
- p.Leu216= Single submitter
- p.Leu245= Single submitter
- p.Leu248= Single submitter
- p.Leu256= Single submitter
- p.Leu258= Single submitter
- p.Leu272= Single submitter
- p.Leu286= Single submitter
- p.Leu289= Single submitter
- p.Leu29= Single submitter
- p.Leu315= Single submitter
- p.Leu348= Single submitter
- p.Leu441= Single submitter
Uncertain significance 140
- c.-108C>A Multiple submitters lethal arthrogryposis-anterior horn cell disease syndrome
- c.-81C>T Multiple submitters lethal arthrogryposis-anterior horn cell disease syndrome
- p.Arg227Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg26Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg575His Multiple submitters Inborn genetic diseases ⚠
- p.Asp474Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met191Ile Multiple submitters Inborn genetic diseases ⚠
- p.Pro357Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro370Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro43Ser Multiple submitters Inborn genetic diseases ⚠
- p.Val464Ala Multiple submitters ⚠
- c.1881+5G>A Single submitter
- c.321+13T>G Single submitter lethal arthrogryposis-anterior horn cell disease syndrome
- c.433-15A>G Single submitter
- c.-34G>A Single submitter lethal congenital contracture syndrome 1
- c.-51G>A Single submitter lethal arthrogryposis-anterior horn cell disease syndrome
- c.-84A>C Single submitter lethal arthrogryposis-anterior horn cell disease syndrome
- c.*111T>C Single submitter lethal arthrogryposis-anterior horn cell disease syndrome
- c.*390C>T Single submitter lethal arthrogryposis-anterior horn cell disease syndrome
- c.*540G>A Single submitter
- c.*640C>T Single submitter lethal arthrogryposis-anterior horn cell disease syndrome
- c.*708T>C Single submitter lethal arthrogryposis-anterior horn cell disease syndrome
- c.*782C>G Single submitter lethal arthrogryposis-anterior horn cell disease syndrome
- c.*962C>T Single submitter lethal congenital contracture syndrome 1
- p.Ala165Pro Single submitter Inborn genetic diseases ⚠
- p.Ala250Val Single submitter lethal arthrogryposis-anterior horn cell disease syndrome ⚠
- p.Ala425Ser Single submitter Inborn genetic diseases ⚠
- p.Ala503Thr Single submitter Inborn genetic diseases ⚠
- p.Ala632Thr Single submitter ⚠
- p.Ala91Ser Single submitter Inborn genetic diseases ⚠
- p.Ala91Val Single submitter Inborn genetic diseases ⚠
- p.Arg188Trp Single submitter Inborn genetic diseases ⚠
- p.Arg196Ile Single submitter Inborn genetic diseases ⚠
- p.Arg21Cys Single submitter ⚠
- p.Arg237Trp Single submitter Inborn genetic diseases ⚠
- p.Arg244Cys Single submitter Inborn genetic diseases ⚠
- p.Arg244Leu Single submitter Inborn genetic diseases ⚠
- p.Arg246Gln Single submitter lethal arthrogryposis-anterior horn cell disease syndrome ⚠
- p.Arg282Gln Single submitter Inborn genetic diseases ⚠
- p.Arg313Gln Single submitter Inborn genetic diseases ⚠
- p.Arg316Gln Single submitter lethal congenital contracture syndrome 1 ⚠
- p.Arg316Trp Single submitter lethal congenital contracture syndrome 1 ⚠
- p.Arg319Trp Single submitter ⚠
- p.Arg31Trp Single submitter Inborn genetic diseases ⚠
- p.Arg338Ser Single submitter Inborn genetic diseases ⚠
- p.Arg462Cys Single submitter lethal congenital contracture syndrome 1 ⚠
- p.Arg603His Single submitter ⚠
- p.Arg670Leu Single submitter ⚠
- p.Arg697Cys Single submitter GLE1-related disorder ⚠
- p.Arg697His Single submitter Inborn genetic diseases ⚠
- p.Asn409Asp Single submitter Inborn genetic diseases ⚠
- p.Asp186Glu Single submitter Inborn genetic diseases ⚠
- p.Asp186Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp27His Single submitter Inborn genetic diseases ⚠
- p.Asp34Asn Single submitter Inborn genetic diseases ⚠
- p.Asp518Glu Single submitter lethal congenital contracture syndrome 1 ⚠
- p.Cys678Tyr Single submitter Inborn genetic diseases
- p.Gln121Glu Single submitter Inborn genetic diseases ⚠
- p.Gln242His Single submitter Inborn genetic diseases ⚠
- p.Gln285His Single submitter Inborn genetic diseases ⚠
- p.Gln477Arg Single submitter Inborn genetic diseases ⚠
- p.Gln477Lys Single submitter Inborn genetic diseases ⚠
- p.Gln81His Single submitter Inborn genetic diseases ⚠
- p.Glu192Gly Single submitter ⚠
- p.Glu224Asp Single submitter Inborn genetic diseases ⚠
- p.Glu234Lys Single submitter Inborn genetic diseases ⚠
- p.Glu240Gly Single submitter lethal arthrogryposis-anterior horn cell disease syndrome ⚠
- p.Glu310Lys Single submitter lethal congenital contracture syndrome 1 ⚠
- p.Glu443Ala Single submitter Inborn genetic diseases ⚠
- p.Glu489Lys Single submitter amyotrophic lateral sclerosis ⚠
- p.Glu612Val Single submitter lethal congenital contracture syndrome 1 ⚠
- p.Gly508Val Single submitter Inborn genetic diseases ⚠
- p.Gly5Asp Single submitter Inborn genetic diseases ⚠
- p.Gly601Val Single submitter Inborn genetic diseases ⚠
- p.Gly666Val Single submitter ⚠
- p.His523Tyr Single submitter Inborn genetic diseases ⚠
- p.His594Asp Single submitter Inborn genetic diseases
- p.Ile293Phe Single submitter Inborn genetic diseases ⚠
- p.Ile385Val Single submitter Inborn genetic diseases ⚠
- p.Ile418Val Single submitter Inborn genetic diseases ⚠
- p.Ile656Thr Single submitter Inborn genetic diseases ⚠
- p.Ile669Lys Single submitter
- p.Leu315Pro Single submitter Inborn genetic diseases ⚠
- p.Leu36Val Single submitter Inborn genetic diseases ⚠
- p.Leu468Ile Single submitter Inborn genetic diseases ⚠
- p.Leu468Phe Single submitter ⚠
- p.Leu519Arg Single submitter Inborn genetic diseases ⚠
- p.Leu544Ser Single submitter Inborn genetic diseases ⚠
- p.Lys127Arg Single submitter Inborn genetic diseases ⚠
- p.Lys176Arg Single submitter Inborn genetic diseases ⚠
- p.Lys568Asn Single submitter Inborn genetic diseases ⚠
- p.Met191Thr Single submitter Inborn genetic diseases ⚠
- p.Met398Thr Single submitter Inborn genetic diseases ⚠
- p.Met60Val Single submitter ⚠
- p.Phe404Ser Single submitter ⚠
- p.Phe690Cys Single submitter Inborn genetic diseases ⚠
- p.Phe84Leu Single submitter Inborn genetic diseases ⚠
- p.Pro429Ala Single submitter
- p.Pro456Arg Single submitter Inborn genetic diseases ⚠
- p.Ser162Leu Single submitter lethal congenital contracture syndrome 1 ⚠
- p.Ser17Phe Single submitter Inborn genetic diseases ⚠
- p.Ser413Asn Single submitter Inborn genetic diseases ⚠
- p.Ser434Cys Single submitter Inborn genetic diseases ⚠
- p.Ser531Pro Single submitter Inborn genetic diseases ⚠
- p.Ser693Phe Single submitter amyotrophic lateral sclerosis ⚠
- p.Ser698Phe Single submitter ⚠
- p.Thr106Ala Single submitter Inborn genetic diseases ⚠
- p.Thr106Ile Single submitter Inborn genetic diseases ⚠
- p.Thr10Ala Single submitter Inborn genetic diseases ⚠
- p.Val274Ile Single submitter Inborn genetic diseases ⚠
- c.1129+9C>T No assertion criteria Lethal congenital contractural syndrome Finnish type
- c.1242+4G>C No assertion criteria Lethal congenital contractural syndrome Finnish type
- c.1777-10C>T No assertion criteria Lethal congenital contractural syndrome Finnish type
- c.1964+5C>G No assertion criteria Lethal congenital contractural syndrome Finnish type
- c.642+6A>G No assertion criteria Lethal congenital contractural syndrome Finnish type
- c.99+6C>T No assertion criteria Lethal congenital contractural syndrome Finnish type
- c.-10T>C No assertion criteria Lethal congenital contractural syndrome Finnish type
- p.Arg156Trp No assertion criteria Lethal congenital contractural syndrome Finnish type ⚠
- p.Arg244His No assertion criteria Lethal congenital contractural syndrome Finnish type ⚠
- p.Asp263= No assertion criteria Lethal congenital contractural syndrome Finnish type
- p.Asp395His No assertion criteria Lethal congenital contractural syndrome Finnish type ⚠
- p.Gln423= No assertion criteria Lethal congenital contractural syndrome Finnish type
- p.Glu163Gln No assertion criteria lethal arthrogryposis-anterior horn cell disease syndrome ⚠
- p.Gly541Val No assertion criteria Lethal congenital contractural syndrome Finnish type ⚠
- p.Ile294Met No assertion criteria Lethal congenital contractural syndrome Finnish type ⚠
- p.Leu187Phe No assertion criteria Lethal congenital contractural syndrome Finnish type ⚠
- p.Leu216Phe No assertion criteria Lethal congenital contractural syndrome Finnish type ⚠
- p.Leu271Pro No assertion criteria Lethal congenital contractural syndrome Finnish type ⚠
- p.Leu519= No assertion criteria Lethal congenital contractural syndrome Finnish type
- p.Lys127Thr No assertion criteria lethal arthrogryposis-anterior horn cell disease syndrome ⚠
- p.Lys214= No assertion criteria Lethal congenital contractural syndrome Finnish type
- p.Lys527= No assertion criteria Lethal congenital contractural syndrome Finnish type
- p.Lys568Arg No assertion criteria Lethal congenital contractural syndrome Finnish type ⚠
- p.Met611Ile No assertion criteria Lethal congenital contractural syndrome Finnish type ⚠
- p.Met665Arg No assertion criteria Lethal congenital contractural syndrome Finnish type ⚠
- p.Pro533Ala No assertion criteria Lethal congenital contractural syndrome Finnish type ⚠
- p.Ser301Arg No assertion criteria Lethal congenital contractural syndrome Finnish type ⚠
- p.Ser494Cys No assertion criteria Lethal congenital contractural syndrome Finnish type ⚠
- p.Thr10= No assertion criteria Lethal congenital contractural syndrome Finnish type
- p.Val380Ala No assertion criteria lethal arthrogryposis-anterior horn cell disease syndrome ⚠