GAN — 855 ClinVar variants
All ClinVar germline GAN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 344 flagged for review →
34 Pathogenic · 5 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 31 Conflicting · 57 Benign · 10 Benign/Likely benign · 255 Likely benign · 444 Uncertain significance
Full GAN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 344
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 3
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
GAN p.Glu486Lys
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
-
GAN p.Asn352Ser
Likely pathogenic
No assertion criteria
intellectual disability
-
GAN p.Lys72Met
Pathogenic
No assertion criteria
giant axonal neuropathy 1
Predictors agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GAN p.Ala482Val
Conflicting
Single submitter
Inborn genetic diseases
-
GAN p.Glu493Lys
Conflicting
Single submitter
giant axonal neuropathy 1
-
GAN p.Gly332Arg
Conflicting
Single submitter
peripheral neuropathy
-
GAN p.Ile244Val
Conflicting
Single submitter
Inborn genetic diseases
-
GAN p.Ile378Val
Conflicting
Single submitter
Inborn genetic diseases
-
GAN p.Met468Val
Conflicting
Single submitter
giant axonal neuropathy 1
-
GAN p.Glu169Lys
Conflicting
No assertion criteria
giant axonal neuropathy 1
Predictors lean, ClinVar uncertain 217
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 217
-
GAN p.Ala261Val
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Ala324Ser
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Ala418Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Ala425Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Ala463Val
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Ala482Thr
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Ala572Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Arg162Gln
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Arg18Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Arg201Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Arg232Gln
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Arg242Gln
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Arg286Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Arg28Gly
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Arg479His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Arg96Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Asn191Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Asp227Glu
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Asp31His
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Asp383Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Gln234Leu
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Gln586His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Glu282Asp
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Glu439Lys
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Gly380Val
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Gly414Asp
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.His147Arg
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.His365Arg
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.His595Tyr
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Ile389Phe
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Lys399Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Lys500Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Met375Leu
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Met391Val
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Pro239Ala
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Ser166Thr
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Ser224Ala
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Ser224Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Ser228Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Ser228Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Ser254Asn
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Ser27Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Ser27Pro
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Ser313Gly
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Ser79Leu
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Thr277Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Thr400Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Thr445Ile
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Thr553Ile
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Tyr504Cys
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Val149Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Val189Phe
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Ala109Pro
Uncertain significance
Single submitter
giant axonal neuropathy 1
- GAN p.Ala141Ser Uncertain significance Single submitter
-
GAN p.Ala290Ser
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Ala2Thr
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Ala351Ser
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Ala425Val
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Ala461Glu
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Ala514Thr
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Ala6Val
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Arg162Gly
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Arg479Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- GAN p.Arg479Leu Uncertain significance Single submitter
-
GAN p.Arg56Thr
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Arg582His
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Asn265Lys
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Asn265Ser
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Asn302Asp
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Asn509His
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Asn98Ser
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Asp139Glu
Uncertain significance
Single submitter
giant axonal neuropathy 1
- GAN p.Asp227Tyr Uncertain significance Single submitter
-
GAN p.Asp350Asn
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Asp383Asn
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Asp395Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Asp481Gly
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Asp481Val
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Asp66Glu
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Asp67Gly
Uncertain significance
Single submitter
giant axonal neuropathy 1
- GAN p.Cys121Phe Uncertain significance Single submitter
-
GAN p.Cys121Tyr
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Cys393Arg
Uncertain significance
Single submitter
giant axonal neuropathy 1
- GAN p.Gln176Pro Uncertain significance Single submitter
-
GAN p.Gln234Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- GAN p.Gln258Lys Uncertain significance Single submitter
-
GAN p.Gln334Pro
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Gln339Arg
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Gln339Glu
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Gln404Glu
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Gln483Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Glu180Ala
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Glu180Gln
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Glu192Gly
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Glu308Lys
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Glu362Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Glu362Lys
Uncertain significance
Single submitter
giant axonal neuropathy 1
- GAN p.Glu480Asp Uncertain significance Single submitter
-
GAN p.Glu498Asp
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Gly280Arg
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Gly326Arg
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Gly333Asp
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Gly368Arg
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Gly38Arg
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Gly4Ser
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Gly526Val
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.His143Arg
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.His213Asn
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.His319Arg
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.His555Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Ile102Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Ile102Thr
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Ile102Val
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Ile135Val
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Ile182Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Ile209Val
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Ile307Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Ile389Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Ile423Thr
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Ile575Val
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Ile73Thr
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Ile95Leu
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Leu112Val
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Leu120Met
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Leu173Val
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Leu20Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- GAN p.Leu253Val Uncertain significance Single submitter
-
GAN p.Leu341Pro
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Leu376Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Leu454Val
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Leu48Pro
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Leu560Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Leu583Pro
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Leu87Arg
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Leu97Val
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Lys177Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Lys267Arg
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Lys287Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Lys338Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Lys338Glu
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Lys346Arg
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Lys403Arg
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Lys58Arg
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Met214Leu
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Met214Val
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Met235Val
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Met292Thr
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Met375Val
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Met426Val
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Met468Leu
Uncertain significance
Single submitter
giant axonal neuropathy 1
Predictors split 117
The independent predictors disagree with each other — read with care.
-
GAN p.Ala108Thr
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Ala461Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Arg591Cys
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Asp116Glu
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Asp395Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Asp507Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Cys464Tyr
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Glu456Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.His160Arg
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.His205Arg
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.His213Arg
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.His319Asn
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Lys403Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Met214Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Pro349Ser
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Pro443Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Pro443Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Tyr61Cys
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Val105Ala
Uncertain significance
Multiple submitters
giant axonal neuropathy 1
-
GAN p.Val164Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Val544Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Val82Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GAN p.Ala131Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Ala13Thr
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Ala19Glu
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Ala324Val
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Ala32Val
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Ala461Val
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Ala514Pro
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Ala572Pro
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Ala576Val
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Arg138His
Conflicting
Single submitter
giant axonal neuropathy 1
- GAN p.Arg138Leu Likely pathogenic Single submitter
-
GAN p.Arg162Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Arg269Gln
Conflicting
Single submitter
Inborn genetic diseases
-
GAN p.Arg269Trp
Conflicting
Single submitter
GAN-related disorder
-
GAN p.Arg545Leu
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Arg567Cys
Uncertain significance
Single submitter
giant axonal neuropathy 1
- GAN p.Arg567Leu Uncertain significance Single submitter
-
GAN p.Arg567Ser
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Arg56Lys
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Arg574Cys
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Arg574His
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Arg582Leu
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Arg593Cys
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Asn188Lys
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Asp104Gly
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Asp163His
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Asp216Val
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Asp335Gly
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Asp373Val
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Asp383Gly
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Asp395His
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Asp507Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Asp564His
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Asp9Glu
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Asp9Tyr
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Cys393Tyr
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Cys578Trp
Uncertain significance
Single submitter
giant axonal neuropathy 1
- GAN p.Glu273Asp Uncertain significance Single submitter
-
GAN p.Glu382Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Glu99Lys
Uncertain significance
Single submitter
giant axonal neuropathy 1
- GAN p.Gly190Asp Uncertain significance Single submitter
-
GAN p.Gly77Arg
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.His143Asp
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.His160Tyr
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Ile102Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Ile372Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Ile575Phe
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Leu113Arg
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Leu146Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Leu407Ser
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Lys177Asn
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Lys186Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Lys211Asn
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Lys215Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Lys403Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Lys45Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Lys491Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Met214Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GAN p.Met218Ile Uncertain significance Single submitter
-
GAN p.Met235Ile
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Met295Thr
Uncertain significance
Single submitter
giant axonal neuropathy 1
- GAN p.Met487Val Uncertain significance Single submitter
-
GAN p.Phe367Leu
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Phe473Leu
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Pro268Leu
Uncertain significance
Single submitter
giant axonal neuropathy 1
- GAN p.Pro288Arg Uncertain significance Single submitter
-
GAN p.Pro288Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Pro315Arg
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Pro315Leu
Conflicting
Single submitter
giant axonal neuropathy
-
GAN p.Pro405Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Ser174Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Ser272Cys
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Ser398Cys
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Ser437Cys
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Ser92Arg
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Ser92Ile
Uncertain significance
Single submitter
giant axonal neuropathy 1
- GAN p.Thr101Lys Uncertain significance Single submitter
-
GAN p.Thr154Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Thr159Ile
Uncertain significance
Single submitter
giant axonal neuropathy 1
- GAN p.Thr167Arg Uncertain significance Single submitter
-
GAN p.Thr568Ile
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Thr57Ile
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Tyr144Cys
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Tyr271Ser
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Tyr299Cys
Uncertain significance
Single submitter
giant axonal neuropathy 1
-
GAN p.Val245Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAN p.Ala463Thr
Pathogenic
No assertion criteria
giant axonal neuropathy 1
-
GAN p.Ala49Thr
Uncertain significance
No assertion criteria
giant axonal neuropathy 1
-
GAN p.Arg15Ser
Conflicting
No assertion criteria
giant axonal neuropathy 1
-
GAN p.Cys570Tyr
Uncertain significance
No assertion criteria
giant axonal neuropathy 1
-
GAN p.Ile47Met
Likely pathogenic
No assertion criteria
Hypotonia
-
GAN p.Pro297Leu
Likely pathogenic
No assertion criteria
giant axonal neuropathy 1
-
GAN p.Pro53Leu
Uncertain significance
No assertion criteria
giant axonal neuropathy 1
-
GAN p.Tyr299Ser
Uncertain significance
No assertion criteria
giant axonal neuropathy 1
-
GAN p.Val438Ile
Uncertain significance
No assertion criteria
Charcot-Marie-Tooth disease
All GAN variants
Pathogenic 34
- p.Gln103Ter Multiple submitters giant axonal neuropathy 1
- p.Glu371fs Multiple submitters Inborn genetic diseases
- c.1373+1G>A Single submitter giant axonal neuropathy 1
- c.168-2A>C Single submitter giant axonal neuropathy 1
- c.633+2T>C Single submitter
- p.Arg162Ter Single submitter giant axonal neuropathy 1
- p.Arg201Ter Single submitter giant axonal neuropathy 1
- p.Arg293Ter Single submitter giant axonal neuropathy 1
- p.Arg501_Trp502insTer Single submitter giant axonal neuropathy 1
- p.Cys128Ter Single submitter giant axonal neuropathy 1
- p.Glu168Ter Single submitter giant axonal neuropathy 1
- p.Glu260fs Single submitter giant axonal neuropathy 1
- p.Glu387_Leu388insTer Single submitter giant axonal neuropathy 1
- p.Glu40Ter Single submitter giant axonal neuropathy 1
- p.Glu498fs Single submitter giant axonal neuropathy 1
- p.Gly127_Cys128insTer Single submitter giant axonal neuropathy 1
- p.Leu125Ser Single submitter giant axonal neuropathy 1
- p.Leu454fs Single submitter giant axonal neuropathy 1
- p.Lys246fs Single submitter giant axonal neuropathy 1
- p.Lys338Ter Single submitter giant axonal neuropathy 1
- p.Lys386fs Single submitter giant axonal neuropathy 1
- p.Lys72fs Single submitter giant axonal neuropathy 1
- p.Phe331fs Single submitter giant axonal neuropathy 1
- p.Pro288fs Single submitter giant axonal neuropathy 1
- p.Pro301_Asn302insTer Single submitter giant axonal neuropathy 1
- p.Thr101fs Single submitter giant axonal neuropathy 1
- p.Trp202Ter Single submitter giant axonal neuropathy 1
- p.Tyr144Ter Single submitter Inborn genetic diseases
- p.Tyr194Ter Single submitter giant axonal neuropathy 1
- p.Tyr394Ter Single submitter giant axonal neuropathy 1
- p.Tyr397Ter Single submitter giant axonal neuropathy 1
- p.Tyr495Ter Single submitter giant axonal neuropathy 1
- p.Ala463Thr No assertion criteria giant axonal neuropathy 1 ⚠
- p.Lys72Met No assertion criteria giant axonal neuropathy 1 ⚠
Pathogenic/Likely pathogenic 5
- c.1502+1G>T Multiple submitters giant axonal neuropathy 1
- c.851+1G>A Multiple submitters Inborn genetic diseases
- p.Arg545His Multiple submitters giant axonal neuropathy 1
- p.Glu486Lys Multiple submitters Inborn genetic diseases ⚠
- p.Ile209fs Multiple submitters giant axonal neuropathy 1
Likely pathogenic 19
- c.1237-3C>G Single submitter giant axonal neuropathy 1
- c.1612+1G>C Single submitter GAN-related disorder
- c.282+2T>A Single submitter giant axonal neuropathy 1
- c.633+1G>A Single submitter giant axonal neuropathy 1
- c.852-1G>T Single submitter giant axonal neuropathy 1
- c.974-2A>G Single submitter giant axonal neuropathy 1
- p.Ala204fs Single submitter giant axonal neuropathy 1
- p.Arg138Leu Single submitter ⚠
- p.Gln304Ter Single submitter giant axonal neuropathy 1
- p.Gly68Ter Single submitter giant axonal neuropathy 1
- p.Leu240Ter Single submitter giant axonal neuropathy 1
- p.Lys211fs Single submitter
- p.Lys422fs Single submitter giant axonal neuropathy 1
- p.Trp306Ter Single submitter giant axonal neuropathy 1
- p.Trp354Ter Single submitter giant axonal neuropathy 1
- p.Tyr347Cys Single submitter giant axonal neuropathy 1
- p.Asn352Ser No assertion criteria intellectual disability ⚠
- p.Ile47Met No assertion criteria Hypotonia ⚠
- p.Pro297Leu No assertion criteria giant axonal neuropathy 1 ⚠
Conflicting classifications of pathogenicity 31
- c.1612+12A>G Single submitter giant axonal neuropathy 1
- c.283-14T>C Single submitter giant axonal neuropathy 1
- c.283-15A>G Single submitter giant axonal neuropathy 1
- c.634-6C>T Single submitter giant axonal neuropathy 1
- c.973+6G>A Single submitter Inborn genetic diseases
- c.974-11G>C Single submitter giant axonal neuropathy 1
- c.*1268C>T Single submitter giant axonal neuropathy 1
- p.Ala482Val Single submitter Inborn genetic diseases ⚠
- p.Arg138His Single submitter giant axonal neuropathy 1 ⚠
- p.Arg269Gln Single submitter Inborn genetic diseases ⚠
- p.Arg269Trp Single submitter GAN-related disorder ⚠
- p.Asn506= Single submitter Inborn genetic diseases
- p.Gln339= Single submitter giant axonal neuropathy 1
- p.Gln44= Single submitter Inborn genetic diseases
- p.Glu25= Single submitter Inborn genetic diseases
- p.Glu493Lys Single submitter giant axonal neuropathy 1 ⚠
- p.Gly332Arg Single submitter peripheral neuropathy ⚠
- p.His148= Single submitter Inborn genetic diseases
- p.Ile244Val Single submitter Inborn genetic diseases ⚠
- p.Ile378Val Single submitter Inborn genetic diseases ⚠
- p.Leu157= Single submitter giant axonal neuropathy 1
- p.Leu388= Single submitter Inborn genetic diseases
- p.Lys267= Single submitter Inborn genetic diseases
- p.Met468Val Single submitter giant axonal neuropathy 1 ⚠
- p.Pro315Leu Single submitter giant axonal neuropathy ⚠
- p.Tyr441= Single submitter giant axonal neuropathy 1
- p.Val106del Single submitter giant axonal neuropathy 1
- p.Arg15Ser No assertion criteria giant axonal neuropathy 1 ⚠
- p.Arg477Ter No assertion criteria giant axonal neuropathy 1
- p.Gln483Ter No assertion criteria giant axonal neuropathy 1
- p.Glu169Lys No assertion criteria giant axonal neuropathy 1 ⚠
Benign 57
- c.1086+51C>T Multiple submitters
- c.1086+71C>T Multiple submitters giant axonal neuropathy 1
- c.1237-59G>A Multiple submitters
- c.1612+13C>G Multiple submitters giant axonal neuropathy 1
- c.168-48C>G Multiple submitters
- c.168-66G>A Multiple submitters
- c.634-51T>C Multiple submitters
- c.973+148G>A Multiple submitters
- c.-235A>G Multiple submitters
- c.-75G>C Multiple submitters giant axonal neuropathy 1
- c.*1068T>G Multiple submitters giant axonal neuropathy 1
- c.*1250T>G Multiple submitters giant axonal neuropathy 1
- c.*1388A>G Multiple submitters giant axonal neuropathy 1
- c.*159C>T Multiple submitters giant axonal neuropathy 1
- c.*1658T>G Multiple submitters giant axonal neuropathy 1
- c.*1817G>C Multiple submitters giant axonal neuropathy 1
- c.*2188T>C Multiple submitters giant axonal neuropathy 1
- c.*227G>A Multiple submitters giant axonal neuropathy 1
- c.*235T>C Multiple submitters giant axonal neuropathy 1
- c.*237T>A Multiple submitters giant axonal neuropathy 1
- c.*247G>A Multiple submitters giant axonal neuropathy 1
- c.*2498T>G Multiple submitters giant axonal neuropathy 1
- c.*294A>G Multiple submitters giant axonal neuropathy 1
- c.*472C>G Multiple submitters giant axonal neuropathy 1
- c.*592T>A Multiple submitters giant axonal neuropathy 1
- c.*764G>A Multiple submitters giant axonal neuropathy 1
- c.*81T>C Multiple submitters giant axonal neuropathy 1
- c.*967G>A Multiple submitters giant axonal neuropathy 1
- p.Tyr431= Multiple submitters giant axonal neuropathy 1
- c.1086+25_1086+28del Single submitter giant axonal neuropathy 1
- c.1087-161T>C Single submitter
- c.1087-225T>A Single submitter
- c.1087-233T>C Single submitter
- c.1087-314dup Single submitter
- c.1236+256T>C Single submitter
- c.1237-261G>A Single submitter
- c.1373+18G>A Single submitter giant axonal neuropathy 1
- c.1502+222G>A Single submitter
- c.1503-320A>G Single submitter
- c.167+221T>G Single submitter
- c.168-12del Single submitter giant axonal neuropathy 1
- c.168-12dup Single submitter giant axonal neuropathy 1
- c.168-147A>G Single submitter
- c.282+223C>T Single submitter
- c.283-149del Single submitter
- c.283-283A>G Single submitter
- c.851+125T>C Single submitter
- c.852-10A>T Single submitter giant axonal neuropathy 1
- c.974-186A>G Single submitter
- c.974-303C>T Single submitter
- c.-323G>T Single submitter
- c.*1113G>A Single submitter giant axonal neuropathy 1
- c.*1273G>C Single submitter giant axonal neuropathy 1
- c.*1659del Single submitter
- c.*1908A>C Single submitter giant axonal neuropathy 1
- c.*2322T>G Single submitter giant axonal neuropathy 1
- c.*372G>A Single submitter giant axonal neuropathy 1
Benign/Likely benign 10
- c.1502+11A>G Multiple submitters giant axonal neuropathy 1
- c.282+7_282+9del Multiple submitters giant axonal neuropathy 1
- c.283-20T>C Multiple submitters giant axonal neuropathy 1
- c.633+19A>G Multiple submitters giant axonal neuropathy 1
- c.634-15T>C Multiple submitters giant axonal neuropathy 1
- p.Ile413= Multiple submitters giant axonal neuropathy 1
- p.Leu16= Multiple submitters Inborn genetic diseases
- p.Pro53= Multiple submitters Inborn genetic diseases
- p.Pro562Ala Multiple submitters giant axonal neuropathy 1
- p.Tyr394= Multiple submitters Inborn genetic diseases
Likely benign 255
- c.1086+9C>G Multiple submitters giant axonal neuropathy 1
- c.283-40G>T Multiple submitters
- c.634-55A>G Multiple submitters
- c.851+15G>A Multiple submitters giant axonal neuropathy 1
- c.852-13T>C Multiple submitters giant axonal neuropathy 1
- c.*211C>T Multiple submitters giant axonal neuropathy 1
- p.Ala220= Multiple submitters Inborn genetic diseases
- p.Arg96= Multiple submitters giant axonal neuropathy 1
- p.Asn188= Multiple submitters Inborn genetic diseases
- p.Asp110= Multiple submitters giant axonal neuropathy 1
- p.Glu247= Multiple submitters giant axonal neuropathy 1
- p.Gly429= Multiple submitters Inborn genetic diseases
- p.Ile200= Multiple submitters giant axonal neuropathy 1
- p.Ile532= Multiple submitters Inborn genetic diseases
- p.Leu120= Multiple submitters Inborn genetic diseases
- p.Leu454= Multiple submitters Inborn genetic diseases
- p.Phe331= Multiple submitters giant axonal neuropathy 1
- p.Phe367= Multiple submitters giant axonal neuropathy 1
- p.Pro315= Multiple submitters Inborn genetic diseases
- p.Pro513= Multiple submitters giant axonal neuropathy 1
- p.Ser224= Multiple submitters giant axonal neuropathy 1
- p.Ser52= Multiple submitters giant axonal neuropathy 1
- p.Ser79= Multiple submitters giant axonal neuropathy 1
- p.Thr115= Multiple submitters Inborn genetic diseases
- p.Thr355= Multiple submitters giant axonal neuropathy 1
- p.Tyr530= Multiple submitters Inborn genetic diseases
- p.Val164= Multiple submitters giant axonal neuropathy 1
- p.Val472= Multiple submitters giant axonal neuropathy 1
- p.Val531= Multiple submitters giant axonal neuropathy 1
- c.1086+10T>G Single submitter giant axonal neuropathy 1
- c.1086+13T>G Single submitter giant axonal neuropathy 1
- c.1086+19_1086+22del Single submitter giant axonal neuropathy 1
- c.1086+219C>A Single submitter
- c.1086+259C>T Single submitter
- c.1086+269C>T Single submitter
- c.1086+8A>C Single submitter giant axonal neuropathy 1
- c.1087-16G>A Single submitter giant axonal neuropathy 1
- c.1087-17C>T Single submitter giant axonal neuropathy 1
- c.1087-20G>A Single submitter giant axonal neuropathy 1
- c.1087-8A>T Single submitter giant axonal neuropathy 1
- c.1236+11C>T Single submitter giant axonal neuropathy 1
- c.1236+17G>T Single submitter giant axonal neuropathy 1
- c.1236+7A>T Single submitter giant axonal neuropathy 1
- c.1237-109C>G Single submitter
- c.1237-11T>G Single submitter giant axonal neuropathy 1
- c.1237-12C>T Single submitter giant axonal neuropathy 1
- c.1237-17T>A Single submitter giant axonal neuropathy 1
- c.1237-17T>C Single submitter giant axonal neuropathy 1
- c.1237-272A>T Single submitter
- c.1373+14G>A Single submitter giant axonal neuropathy 1
- c.1373+16G>A Single submitter giant axonal neuropathy 1
- c.1373+9C>T Single submitter giant axonal neuropathy 1
- c.1374-14G>T Single submitter giant axonal neuropathy 1
- c.1374-18C>G Single submitter giant axonal neuropathy 1
- c.1374-18C>T Single submitter giant axonal neuropathy 1
- c.1374-19G>A Single submitter giant axonal neuropathy 1
- c.1374-20C>T Single submitter giant axonal neuropathy 1
- c.1374-9G>A Single submitter giant axonal neuropathy 1
- c.1502+11dup Single submitter giant axonal neuropathy 1
- c.1502+13G>T Single submitter
- c.1502+147G>A Single submitter
- c.1502+14G>T Single submitter giant axonal neuropathy 1
- c.1502+20C>G Single submitter giant axonal neuropathy 1
- c.1503-11T>C Single submitter giant axonal neuropathy 1
- c.1503-16T>C Single submitter giant axonal neuropathy 1
- c.1503-6T>C Single submitter giant axonal neuropathy 1
- c.1503-7T>C Single submitter giant axonal neuropathy 1
- c.1503-8G>A Single submitter giant axonal neuropathy 1
- c.1612+11T>A Single submitter
- c.1612+15G>T Single submitter giant axonal neuropathy 1
- c.1612+16T>G Single submitter giant axonal neuropathy 1
- c.1612+7G>A Single submitter giant axonal neuropathy 1
- c.1613-37G>A Single submitter
- c.167+16C>G Single submitter giant axonal neuropathy 1
- c.167+16C>T Single submitter giant axonal neuropathy 1
- c.168-11C>T Single submitter giant axonal neuropathy 1
- c.168-12T>C Single submitter giant axonal neuropathy 1
- c.168-19A>G Single submitter giant axonal neuropathy 1
- c.168-5C>G Single submitter giant axonal neuropathy 1
- c.282+15_282+18del Single submitter giant axonal neuropathy 1
- c.283-10A>G Single submitter giant axonal neuropathy 1
- c.283-149dup Single submitter
- c.283-150_283-149del Single submitter
- c.283-229A>G Single submitter
- c.633+10A>G Single submitter giant axonal neuropathy 1
- c.633+11T>C Single submitter giant axonal neuropathy 1
- c.633+298C>T Single submitter
- c.633+7G>A Single submitter giant axonal neuropathy 1
- c.634-230C>T Single submitter
- c.634-9C>T Single submitter giant axonal neuropathy 1
- c.851+119dup Single submitter
- c.851+258C>G Single submitter
- c.852-15T>G Single submitter giant axonal neuropathy 1
- c.852-17C>G Single submitter giant axonal neuropathy 1
- c.852-17C>T Single submitter giant axonal neuropathy 1
- c.852-25A>G Single submitter
- c.852-329T>C Single submitter
- c.852-337A>C Single submitter
- c.852-4T>C Single submitter giant axonal neuropathy 1
- c.852-5del Single submitter giant axonal neuropathy 1
- c.852-6C>T Single submitter giant axonal neuropathy 1
- c.852-8T>C Single submitter giant axonal neuropathy 1
- c.973+13G>A Single submitter giant axonal neuropathy 1
- c.973+17A>C Single submitter giant axonal neuropathy 1
- c.973+18A>G Single submitter giant axonal neuropathy 1
- c.973+19T>G Single submitter giant axonal neuropathy 1
- c.973+237C>A Single submitter
- c.973+9C>G Single submitter giant axonal neuropathy 1
- c.974-11G>T Single submitter giant axonal neuropathy 1
- c.974-13T>C Single submitter giant axonal neuropathy 1
- c.974-16C>G Single submitter giant axonal neuropathy 1
- c.974-16C>T Single submitter giant axonal neuropathy 1
- c.974-19T>A Single submitter giant axonal neuropathy 1
- c.974-225G>T Single submitter
- c.974-8C>A Single submitter giant axonal neuropathy 1
- c.974-9T>A Single submitter giant axonal neuropathy 1
- c.-47G>A Single submitter
- c.*115A>T Single submitter
- c.*1175C>A Single submitter giant axonal neuropathy 1
- c.*1839G>A Single submitter giant axonal neuropathy 1
- c.*1949G>C Single submitter giant axonal neuropathy 1
- c.*2332T>A Single submitter giant axonal neuropathy 1
- c.*2584A>G Single submitter giant axonal neuropathy 1
- c.*48C>T Single submitter giant axonal neuropathy 1
- c.*747G>T Single submitter giant axonal neuropathy 1
- c.*964C>G Single submitter giant axonal neuropathy 1
- p.Ala141= Single submitter giant axonal neuropathy 1
- p.Ala19= Single submitter giant axonal neuropathy 1
- p.Ala2= Single submitter giant axonal neuropathy 1
- p.Ala261= Single submitter giant axonal neuropathy 1
- p.Ala291= Single submitter giant axonal neuropathy 1
- p.Ala417= Single submitter giant axonal neuropathy 1
- p.Ala461= Single submitter giant axonal neuropathy 1
- p.Ala482= Single submitter giant axonal neuropathy 1
- p.Ala49= Single submitter giant axonal neuropathy 1
- p.Ala51= Single submitter giant axonal neuropathy 1
- p.Ala571= Single submitter giant axonal neuropathy 1
- p.Ala572= Single submitter giant axonal neuropathy 1
- p.Ala576= Single submitter giant axonal neuropathy 1
- p.Ala6= Single submitter giant axonal neuropathy 1
- p.Arg24= Single submitter giant axonal neuropathy 1
- p.Arg28= Single submitter giant axonal neuropathy 1
- p.Arg293= Single submitter giant axonal neuropathy 1
- p.Arg444= Single submitter giant axonal neuropathy 1
- p.Arg84= Single submitter giant axonal neuropathy 1
- p.Asn133= Single submitter giant axonal neuropathy 1
- p.Asn191= Single submitter giant axonal neuropathy 1
- p.Asn302= Single submitter
- p.Asp100= Single submitter giant axonal neuropathy 1
- p.Asp163= Single submitter giant axonal neuropathy 1
- p.Asp507= Single submitter giant axonal neuropathy 1
- p.Asp564= Single submitter giant axonal neuropathy 1
- p.Asp67= Single submitter giant axonal neuropathy 1
- p.Asp9= Single submitter giant axonal neuropathy 1
- p.Cys134= Single submitter giant axonal neuropathy 1
- p.Cys274= Single submitter giant axonal neuropathy 1
- p.Cys294= Single submitter giant axonal neuropathy 1
- p.Cys415= Single submitter giant axonal neuropathy 1
- p.Gln176= Single submitter giant axonal neuropathy 1
- p.Gln257= Single submitter giant axonal neuropathy 1
- p.Gln258= Single submitter giant axonal neuropathy 1
- p.Gln404= Single submitter giant axonal neuropathy 1
- p.Glu155= Single submitter giant axonal neuropathy 1
- p.Glu273= Single submitter giant axonal neuropathy 1
- p.Glu3= Single submitter giant axonal neuropathy 1
- p.Glu436= Single submitter
- p.Glu493= Single submitter
- p.Glu498= Single submitter giant axonal neuropathy 1
- p.Glu85= Single submitter giant axonal neuropathy 1
- p.Gly190= Single submitter giant axonal neuropathy 1
- p.Gly225= Single submitter giant axonal neuropathy 1
- p.Gly270= Single submitter giant axonal neuropathy 1
- p.Gly279= Single submitter giant axonal neuropathy 1
- p.Gly332= Single submitter giant axonal neuropathy 1
- p.Gly374= Single submitter giant axonal neuropathy 1
- p.Gly380= Single submitter giant axonal neuropathy 1
- p.Gly569= Single submitter giant axonal neuropathy 1
- p.Gly68= Single submitter giant axonal neuropathy 1
- p.Gly77= Single submitter giant axonal neuropathy 1
- p.Gly93= Single submitter giant axonal neuropathy 1
- p.His150= Single submitter giant axonal neuropathy 1
- p.His160= Single submitter giant axonal neuropathy 1
- p.His205= Single submitter giant axonal neuropathy 1
- p.His213= Single submitter giant axonal neuropathy 1
- p.Ile135= Single submitter giant axonal neuropathy 1
- p.Ile251= Single submitter giant axonal neuropathy 1
- p.Ile307= Single submitter giant axonal neuropathy 1
- p.Ile41= Single submitter giant axonal neuropathy 1
- p.Ile47= Single submitter giant axonal neuropathy 1
- p.Leu111= Single submitter giant axonal neuropathy 1
- p.Leu112= Single submitter
- p.Leu125= Single submitter giant axonal neuropathy 1
- p.Leu142= Single submitter giant axonal neuropathy 1
- p.Leu173= Single submitter giant axonal neuropathy 1
- p.Leu20= Single submitter giant axonal neuropathy 1
- p.Leu253= Single submitter giant axonal neuropathy 1
- p.Leu298= Single submitter giant axonal neuropathy 1
- p.Leu312= Single submitter giant axonal neuropathy 1
- p.Leu328= Single submitter giant axonal neuropathy 1
- p.Leu34= Single submitter giant axonal neuropathy 1
- p.Leu36= Single submitter giant axonal neuropathy 1
- p.Leu470= Single submitter giant axonal neuropathy 1
- p.Leu48= Single submitter giant axonal neuropathy 1
- p.Leu560= Single submitter giant axonal neuropathy 1
- p.Leu583= Single submitter giant axonal neuropathy 1
- p.Lys186= Single submitter giant axonal neuropathy 1
- p.Lys346= Single submitter giant axonal neuropathy 1
- p.Lys403= Single submitter giant axonal neuropathy 1
- p.Lys420= Single submitter giant axonal neuropathy 1
- p.Lys45= Single submitter giant axonal neuropathy 1
- p.Lys65= Single submitter giant axonal neuropathy 1
- p.Lys72= Single submitter giant axonal neuropathy 1
- p.Phe329= Single submitter giant axonal neuropathy 1
- p.Phe459= Single submitter giant axonal neuropathy 1
- p.Pro252= Single submitter giant axonal neuropathy 1
- p.Pro256= Single submitter giant axonal neuropathy 1
- p.Pro297= Single submitter giant axonal neuropathy 1
- p.Pro311= Single submitter giant axonal neuropathy 1
- p.Pro358= Single submitter giant axonal neuropathy 1
- p.Pro443= Single submitter giant axonal neuropathy 1
- p.Pro524= Single submitter giant axonal neuropathy 1
- p.Pro562= Single submitter giant axonal neuropathy 1
- p.Ser21= Single submitter giant axonal neuropathy 1
- p.Ser229= Single submitter giant axonal neuropathy 1
- p.Ser390= Single submitter giant axonal neuropathy 1
- p.Ser430= Single submitter giant axonal neuropathy 1
- p.Ser492= Single submitter giant axonal neuropathy 1
- p.Ser516= Single submitter giant axonal neuropathy 1
- p.Ser550= Single submitter giant axonal neuropathy 1
- p.Ser563= Single submitter giant axonal neuropathy 1
- p.Ser596= Single submitter giant axonal neuropathy 1
- p.Ter598= Single submitter giant axonal neuropathy 1
- p.Thr119= Single submitter giant axonal neuropathy 1
- p.Thr167= Single submitter giant axonal neuropathy 1
- p.Thr277= Single submitter giant axonal neuropathy 1
- p.Thr340= Single submitter giant axonal neuropathy 1
- p.Thr353= Single submitter giant axonal neuropathy 1
- p.Thr445= Single submitter giant axonal neuropathy 1
- p.Thr539= Single submitter giant axonal neuropathy 1
- p.Tyr151= Single submitter giant axonal neuropathy 1
- p.Tyr271= Single submitter giant axonal neuropathy 1
- p.Tyr416= Single submitter giant axonal neuropathy 1
- p.Tyr424= Single submitter giant axonal neuropathy 1
- p.Tyr520= Single submitter giant axonal neuropathy 1
- p.Tyr54= Single submitter giant axonal neuropathy 1
- p.Tyr541= Single submitter giant axonal neuropathy 1
- p.Tyr543= Single submitter giant axonal neuropathy 1
- p.Val149= Single submitter giant axonal neuropathy 1
- p.Val241= Single submitter giant axonal neuropathy 1
- p.Val245= Single submitter giant axonal neuropathy 1
- p.Val276= Single submitter giant axonal neuropathy 1
- p.Val330= Single submitter giant axonal neuropathy 1
- p.Val476= Single submitter giant axonal neuropathy 1
- p.Val82= Single submitter giant axonal neuropathy 1
- p.Val438= No assertion criteria GAN-related disorder
Uncertain significance 444
Showing the top 300 by review status; the full set is in the sitemap.
- c.1373+4C>T Multiple submitters Inborn genetic diseases
- c.1612+4A>G Multiple submitters giant axonal neuropathy 1
- c.283-3T>A Multiple submitters Inborn genetic diseases
- c.*176G>T Multiple submitters giant axonal neuropathy 1
- p.Ala108Thr Multiple submitters giant axonal neuropathy 1 ⚠
- p.Ala261Val Multiple submitters giant axonal neuropathy 1 ⚠
- p.Ala324Ser Multiple submitters giant axonal neuropathy 1 ⚠
- p.Ala418Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ala425Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala461Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala463Val Multiple submitters giant axonal neuropathy 1 ⚠
- p.Ala482Thr Multiple submitters giant axonal neuropathy 1 ⚠
- p.Ala50Ser Multiple submitters giant axonal neuropathy 1
- p.Ala572Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg162Gln Multiple submitters giant axonal neuropathy 1 ⚠
- p.Arg18Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg201Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg232Gln Multiple submitters giant axonal neuropathy 1 ⚠
- p.Arg242Gln Multiple submitters giant axonal neuropathy 1 ⚠
- p.Arg286Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg28Gly Multiple submitters giant axonal neuropathy 1 ⚠
- p.Arg479His Multiple submitters Inborn genetic diseases ⚠
- p.Arg591Cys Multiple submitters giant axonal neuropathy 1 ⚠
- p.Arg593His Multiple submitters Inborn genetic diseases
- p.Arg96Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn191Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp116Glu Multiple submitters giant axonal neuropathy 1 ⚠
- p.Asp227Glu Multiple submitters giant axonal neuropathy 1 ⚠
- p.Asp31His Multiple submitters giant axonal neuropathy 1 ⚠
- p.Asp383Val Multiple submitters Inborn genetic diseases ⚠
- p.Asp395Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp507Asn Multiple submitters Inborn genetic diseases ⚠
- p.Cys248Tyr Multiple submitters Inborn genetic diseases
- p.Cys464Tyr Multiple submitters giant axonal neuropathy 1 ⚠
- p.Gln234Leu Multiple submitters giant axonal neuropathy 1 ⚠
- p.Gln586His Multiple submitters Inborn genetic diseases ⚠
- p.Glu282Asp Multiple submitters giant axonal neuropathy 1 ⚠
- p.Glu439Lys Multiple submitters giant axonal neuropathy 1 ⚠
- p.Glu456Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly259Ala Multiple submitters Inborn genetic diseases
- p.Gly333_Asp335del Multiple submitters giant axonal neuropathy 1
- p.Gly380Val Multiple submitters giant axonal neuropathy 1 ⚠
- p.Gly414Asp Multiple submitters giant axonal neuropathy 1 ⚠
- p.Gly414Ser Multiple submitters giant axonal neuropathy 1
- p.His147Arg Multiple submitters giant axonal neuropathy 1 ⚠
- p.His160Arg Multiple submitters giant axonal neuropathy 1 ⚠
- p.His205Arg Multiple submitters giant axonal neuropathy 1 ⚠
- p.His213Arg Multiple submitters giant axonal neuropathy 1 ⚠
- p.His319Asn Multiple submitters giant axonal neuropathy 1 ⚠
- p.His365Arg Multiple submitters giant axonal neuropathy 1 ⚠
- p.His595Tyr Multiple submitters giant axonal neuropathy 1 ⚠
- p.Ile389Phe Multiple submitters giant axonal neuropathy 1 ⚠
- p.Leu560Phe Multiple submitters Inborn genetic diseases
- p.Lys399Glu Multiple submitters Inborn genetic diseases ⚠
- p.Lys403Glu Multiple submitters Inborn genetic diseases ⚠
- p.Lys500Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met214Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met375Leu Multiple submitters giant axonal neuropathy 1 ⚠
- p.Met391Val Multiple submitters giant axonal neuropathy 1 ⚠
- p.Pro239Ala Multiple submitters giant axonal neuropathy 1 ⚠
- p.Pro349Ser Multiple submitters giant axonal neuropathy 1 ⚠
- p.Pro443Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro443Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser166Thr Multiple submitters giant axonal neuropathy 1 ⚠
- p.Ser224Ala Multiple submitters giant axonal neuropathy 1 ⚠
- p.Ser224Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser228Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ser228Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ser254Asn Multiple submitters giant axonal neuropathy 1 ⚠
- p.Ser27Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ser27Pro Multiple submitters giant axonal neuropathy 1 ⚠
- p.Ser313Gly Multiple submitters giant axonal neuropathy 1 ⚠
- p.Ser79Leu Multiple submitters giant axonal neuropathy 1 ⚠
- p.Ter598GluextTer? Multiple submitters giant axonal neuropathy 1
- p.Thr167Met Multiple submitters Inborn genetic diseases
- p.Thr277Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr400Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr445Ile Multiple submitters giant axonal neuropathy 1 ⚠
- p.Thr553Ile Multiple submitters giant axonal neuropathy 1 ⚠
- p.Tyr504Cys Multiple submitters giant axonal neuropathy 1 ⚠
- p.Tyr543Cys Multiple submitters giant axonal neuropathy 1
- p.Tyr61Cys Multiple submitters giant axonal neuropathy 1 ⚠
- p.Val105Ala Multiple submitters giant axonal neuropathy 1 ⚠
- p.Val149Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val164Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val189Phe Multiple submitters giant axonal neuropathy 1 ⚠
- p.Val544Met Multiple submitters Inborn genetic diseases ⚠
- p.Val82Leu Multiple submitters Inborn genetic diseases ⚠
- c.1086+6A>T Single submitter Inborn genetic diseases
- c.1373+4C>G Single submitter giant axonal neuropathy 1
- c.1373+5G>A Single submitter giant axonal neuropathy 1
- c.1502+4A>G Single submitter giant axonal neuropathy 1
- c.1503-2A>G Single submitter giant axonal neuropathy 1
- c.167+4G>C Single submitter giant axonal neuropathy 1
- c.167+5_167+6del Single submitter giant axonal neuropathy 1
- c.282+3A>G Single submitter
- c.851+7A>G Single submitter giant axonal neuropathy 1
- c.973+4C>G Single submitter giant axonal neuropathy 1
- c.-111G>A Single submitter giant axonal neuropathy 1
- c.-126T>C Single submitter giant axonal neuropathy 1
- c.-127C>T Single submitter giant axonal neuropathy 1
- c.-15G>C Single submitter giant axonal neuropathy 1
- c.-70C>T Single submitter giant axonal neuropathy 1
- c.-74G>C Single submitter giant axonal neuropathy 1
- c.*1002T>A Single submitter giant axonal neuropathy 1
- c.*1029C>T Single submitter giant axonal neuropathy 1
- c.*1102A>G Single submitter giant axonal neuropathy 1
- c.*1138A>G Single submitter giant axonal neuropathy 1
- c.*1336G>A Single submitter giant axonal neuropathy 1
- c.*1368T>C Single submitter giant axonal neuropathy 1
- c.*1455del Single submitter
- c.*1557C>A Single submitter giant axonal neuropathy 1
- c.*1585T>C Single submitter giant axonal neuropathy 1
- c.*1670C>T Single submitter giant axonal neuropathy 1
- c.*1747A>G Single submitter giant axonal neuropathy 1
- c.*1820G>A Single submitter giant axonal neuropathy 1
- c.*1883C>G Single submitter giant axonal neuropathy 1
- c.*1943T>C Single submitter giant axonal neuropathy 1
- c.*2019A>G Single submitter giant axonal neuropathy 1
- c.*2027T>A Single submitter giant axonal neuropathy 1
- c.*2125A>G Single submitter giant axonal neuropathy 1
- c.*214C>T Single submitter giant axonal neuropathy 1
- c.*2280G>C Single submitter giant axonal neuropathy 1
- c.*2332del Single submitter
- c.*2350T>A Single submitter giant axonal neuropathy 1
- c.*2457T>C Single submitter giant axonal neuropathy 1
- c.*2485A>G Single submitter giant axonal neuropathy 1
- c.*2492T>A Single submitter giant axonal neuropathy 1
- c.*2532T>C Single submitter giant axonal neuropathy 1
- c.*291A>G Single submitter giant axonal neuropathy 1
- c.*32C>A Single submitter giant axonal neuropathy 1
- c.*360G>A Single submitter giant axonal neuropathy 1
- c.*360G>T Single submitter giant axonal neuropathy 1
- c.*45T>C Single submitter giant axonal neuropathy 1
- c.*495G>A Single submitter giant axonal neuropathy 1
- c.*544C>G Single submitter giant axonal neuropathy 1
- c.*551C>T Single submitter giant axonal neuropathy 1
- c.*644T>C Single submitter giant axonal neuropathy 1
- c.*733G>A Single submitter giant axonal neuropathy 1
- c.*810C>A Single submitter giant axonal neuropathy 1
- c.*816T>C Single submitter giant axonal neuropathy 1
- p.Ala109Pro Single submitter giant axonal neuropathy 1 ⚠
- p.Ala131Val Single submitter Inborn genetic diseases ⚠
- p.Ala13Thr Single submitter giant axonal neuropathy 1 ⚠
- p.Ala141Ser Single submitter ⚠
- p.Ala19Glu Single submitter giant axonal neuropathy 1 ⚠
- p.Ala290Ser Single submitter giant axonal neuropathy 1 ⚠
- p.Ala2Thr Single submitter giant axonal neuropathy 1 ⚠
- p.Ala324= Single submitter
- p.Ala324Val Single submitter giant axonal neuropathy 1 ⚠
- p.Ala32Val Single submitter giant axonal neuropathy 1 ⚠
- p.Ala351Ser Single submitter giant axonal neuropathy 1 ⚠
- p.Ala425Val Single submitter giant axonal neuropathy 1 ⚠
- p.Ala461Glu Single submitter giant axonal neuropathy 1 ⚠
- p.Ala461Leu Single submitter giant axonal neuropathy 1
- p.Ala461Val Single submitter giant axonal neuropathy 1 ⚠
- p.Ala463Ser Single submitter Inborn genetic diseases
- p.Ala514Pro Single submitter giant axonal neuropathy 1 ⚠
- p.Ala514Thr Single submitter giant axonal neuropathy 1 ⚠
- p.Ala522Val Single submitter giant axonal neuropathy 1
- p.Ala572Pro Single submitter giant axonal neuropathy 1 ⚠
- p.Ala576Val Single submitter giant axonal neuropathy 1 ⚠
- p.Ala6Val Single submitter giant axonal neuropathy 1 ⚠
- p.Arg162Gly Single submitter giant axonal neuropathy 1 ⚠
- p.Arg162Pro Single submitter Inborn genetic diseases ⚠
- p.Arg286= Single submitter
- p.Arg286Trp Single submitter giant axonal neuropathy 1
- p.Arg477Gln Single submitter giant axonal neuropathy 1
- p.Arg479Cys Single submitter Inborn genetic diseases ⚠
- p.Arg479Leu Single submitter ⚠
- p.Arg545Leu Single submitter giant axonal neuropathy 1 ⚠
- p.Arg566His Single submitter giant axonal neuropathy 1
- p.Arg567Cys Single submitter giant axonal neuropathy 1 ⚠
- p.Arg567Leu Single submitter ⚠
- p.Arg567Ser Single submitter giant axonal neuropathy 1 ⚠
- p.Arg56Lys Single submitter giant axonal neuropathy 1 ⚠
- p.Arg56Thr Single submitter giant axonal neuropathy 1 ⚠
- p.Arg574Cys Single submitter giant axonal neuropathy 1 ⚠
- p.Arg574His Single submitter giant axonal neuropathy 1 ⚠
- p.Arg582Cys Single submitter giant axonal neuropathy 1
- p.Arg582His Single submitter giant axonal neuropathy 1 ⚠
- p.Arg582Leu Single submitter giant axonal neuropathy 1 ⚠
- p.Arg591His Single submitter giant axonal neuropathy 1
- p.Arg593Cys Single submitter giant axonal neuropathy 1 ⚠
- p.Asn188Lys Single submitter giant axonal neuropathy 1 ⚠
- p.Asn265Lys Single submitter giant axonal neuropathy 1 ⚠
- p.Asn265Ser Single submitter giant axonal neuropathy 1 ⚠
- p.Asn302Asp Single submitter giant axonal neuropathy 1 ⚠
- p.Asn509His Single submitter giant axonal neuropathy 1 ⚠
- p.Asn98Ser Single submitter giant axonal neuropathy 1 ⚠
- p.Asp104Gly Single submitter giant axonal neuropathy 1 ⚠
- p.Asp139Glu Single submitter giant axonal neuropathy 1 ⚠
- p.Asp163His Single submitter giant axonal neuropathy 1 ⚠
- p.Asp216Val Single submitter giant axonal neuropathy 1 ⚠
- p.Asp227Tyr Single submitter ⚠
- p.Asp335Gly Single submitter giant axonal neuropathy 1 ⚠
- p.Asp350Asn Single submitter giant axonal neuropathy 1 ⚠
- p.Asp373Val Single submitter giant axonal neuropathy 1 ⚠
- p.Asp383Asn Single submitter giant axonal neuropathy 1 ⚠
- p.Asp383Gly Single submitter giant axonal neuropathy 1 ⚠
- p.Asp395Gly Single submitter Inborn genetic diseases ⚠
- p.Asp395His Single submitter giant axonal neuropathy 1 ⚠
- p.Asp481Gly Single submitter giant axonal neuropathy 1 ⚠
- p.Asp481Val Single submitter giant axonal neuropathy 1 ⚠
- p.Asp507Glu Single submitter Inborn genetic diseases ⚠
- p.Asp542Asn Single submitter giant axonal neuropathy 1
- p.Asp564fs Single submitter giant axonal neuropathy 1
- p.Asp564His Single submitter giant axonal neuropathy 1 ⚠
- p.Asp66Glu Single submitter giant axonal neuropathy 1 ⚠
- p.Asp67Gly Single submitter giant axonal neuropathy 1 ⚠
- p.Asp9Glu Single submitter giant axonal neuropathy 1 ⚠
- p.Asp9Tyr Single submitter giant axonal neuropathy 1 ⚠
- p.Cys121Phe Single submitter ⚠
- p.Cys121Tyr Single submitter giant axonal neuropathy 1 ⚠
- p.Cys393Arg Single submitter giant axonal neuropathy 1 ⚠
- p.Cys393Tyr Single submitter giant axonal neuropathy 1 ⚠
- p.Cys578Trp Single submitter giant axonal neuropathy 1 ⚠
- p.Gln176Pro Single submitter ⚠
- p.Gln234Lys Single submitter Inborn genetic diseases ⚠
- p.Gln258Lys Single submitter ⚠
- p.Gln334His Single submitter Inborn genetic diseases
- p.Gln334Pro Single submitter giant axonal neuropathy 1 ⚠
- p.Gln339Arg Single submitter giant axonal neuropathy 1 ⚠
- p.Gln339Glu Single submitter giant axonal neuropathy 1 ⚠
- p.Gln404Glu Single submitter giant axonal neuropathy 1 ⚠
- p.Gln447Lys Single submitter
- p.Gln483Arg Single submitter Inborn genetic diseases ⚠
- p.Gln94= Single submitter giant axonal neuropathy 1
- p.Gln94Ter Single submitter giant axonal neuropathy
- p.Glu180Ala Single submitter giant axonal neuropathy 1 ⚠
- p.Glu180Gln Single submitter giant axonal neuropathy 1 ⚠
- p.Glu192Gly Single submitter giant axonal neuropathy 1 ⚠
- p.Glu273Asp Single submitter ⚠
- p.Glu308Lys Single submitter giant axonal neuropathy 1 ⚠
- p.Glu325Lys Single submitter Inborn genetic diseases
- p.Glu362Gln Single submitter Inborn genetic diseases ⚠
- p.Glu362Lys Single submitter giant axonal neuropathy 1 ⚠
- p.Glu382Val Single submitter Inborn genetic diseases ⚠
- p.Glu456_Arg457delinsGly Single submitter giant axonal neuropathy 1
- p.Glu480Asp Single submitter ⚠
- p.Glu498Asp Single submitter giant axonal neuropathy 1 ⚠
- p.Glu99Lys Single submitter giant axonal neuropathy 1 ⚠
- p.Gly127= Single submitter giant axonal neuropathy 1
- p.Gly190Asp Single submitter ⚠
- p.Gly280Arg Single submitter giant axonal neuropathy 1 ⚠
- p.Gly326Arg Single submitter giant axonal neuropathy 1 ⚠
- p.Gly333Asp Single submitter giant axonal neuropathy 1 ⚠
- p.Gly368Arg Single submitter giant axonal neuropathy 1 ⚠
- p.Gly38Arg Single submitter giant axonal neuropathy 1 ⚠
- p.Gly4Ser Single submitter giant axonal neuropathy 1 ⚠
- p.Gly526Val Single submitter giant axonal neuropathy 1 ⚠
- p.Gly77Arg Single submitter giant axonal neuropathy 1 ⚠
- p.His143Arg Single submitter giant axonal neuropathy 1 ⚠
- p.His143Asp Single submitter giant axonal neuropathy 1 ⚠
- p.His148Asp Single submitter giant axonal neuropathy 1
- p.His160Tyr Single submitter giant axonal neuropathy 1 ⚠
- p.His213Asn Single submitter giant axonal neuropathy 1 ⚠
- p.His319Arg Single submitter giant axonal neuropathy 1 ⚠
- p.His555Gln Single submitter Inborn genetic diseases ⚠
- p.Ile102Leu Single submitter Inborn genetic diseases ⚠
- p.Ile102Met Single submitter Inborn genetic diseases ⚠
- p.Ile102Thr Single submitter giant axonal neuropathy 1 ⚠
- p.Ile102Val Single submitter giant axonal neuropathy 1 ⚠
- p.Ile135Val Single submitter giant axonal neuropathy 1 ⚠
- p.Ile182Asn Single submitter Inborn genetic diseases ⚠
- p.Ile209Val Single submitter giant axonal neuropathy 1 ⚠
- p.Ile307Met Single submitter Inborn genetic diseases ⚠
- p.Ile372Thr Single submitter Inborn genetic diseases ⚠
- p.Ile389Thr Single submitter Inborn genetic diseases ⚠
- p.Ile423Thr Single submitter giant axonal neuropathy 1 ⚠
- p.Ile575Phe Single submitter giant axonal neuropathy 1 ⚠
- p.Ile575Val Single submitter giant axonal neuropathy 1 ⚠
- p.Ile73Thr Single submitter giant axonal neuropathy 1 ⚠
- p.Ile95Leu Single submitter giant axonal neuropathy 1 ⚠
- p.Leu112Val Single submitter giant axonal neuropathy 1 ⚠
- p.Leu113Arg Single submitter giant axonal neuropathy 1 ⚠
- p.Leu120Met Single submitter giant axonal neuropathy 1 ⚠
- p.Leu146Phe Single submitter Inborn genetic diseases ⚠
- p.Leu16His Single submitter giant axonal neuropathy 1
- p.Leu173Val Single submitter giant axonal neuropathy 1 ⚠
- p.Leu20Arg Single submitter Inborn genetic diseases ⚠
- p.Leu253Val Single submitter ⚠
- p.Leu263Met Single submitter giant axonal neuropathy 1
- p.Leu341Pro Single submitter giant axonal neuropathy 1 ⚠
- p.Leu376Pro Single submitter Inborn genetic diseases ⚠
- p.Leu407Ser Single submitter giant axonal neuropathy 1 ⚠
- p.Leu454Val Single submitter giant axonal neuropathy 1 ⚠
- p.Leu48Pro Single submitter giant axonal neuropathy 1 ⚠
- p.Leu560Val Single submitter Inborn genetic diseases ⚠
- p.Leu583Pro Single submitter giant axonal neuropathy 1 ⚠
- p.Leu87Arg Single submitter giant axonal neuropathy 1 ⚠
- p.Leu97Val Single submitter giant axonal neuropathy 1 ⚠
- p.Lys177Arg Single submitter Inborn genetic diseases ⚠
- p.Lys177Asn Single submitter giant axonal neuropathy 1 ⚠
- p.Lys186Asn Single submitter Inborn genetic diseases ⚠
- p.Lys211Asn Single submitter giant axonal neuropathy 1 ⚠
- p.Lys215Met Single submitter Inborn genetic diseases ⚠
- p.Lys267Arg Single submitter giant axonal neuropathy 1 ⚠
- p.Lys287Arg Single submitter Inborn genetic diseases ⚠
- p.Lys338Gln Single submitter Inborn genetic diseases ⚠