CLN8 — 541 ClinVar variants

All ClinVar germline CLN8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 248 flagged for review →

41 Pathogenic · 15 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 28 Conflicting · 12 Benign · 7 Benign/Likely benign · 170 Likely benign · 240 Uncertain significance

Full CLN8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 248

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.

CLN8 p.Ala155Val Likely pathogenic No assertion criteria
neuronal ceroid lipofuscinosis 8

Predictors agree, ClinVar conflicts 13

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

CLN8 p.Ala266Thr Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Ala4Val Conflicting Single submitter
Inborn genetic diseases
CLN8 p.Ala51Thr Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Ala67Val Conflicting Single submitter
neuronal ceroid lipofuscinosis 8 northern epilepsy variant
CLN8 p.Arg204Leu Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Arg70Pro Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Asn125Ser Conflicting Single submitter
Inborn genetic diseases
CLN8 p.Asn152Ser Conflicting Single submitter
Inborn genetic diseases
CLN8 p.Glu269Val Conflicting Single submitter
Inborn genetic diseases
CLN8 p.Pro260Leu Conflicting Single submitter
neuronal ceroid lipofuscinosis 8 northern epilepsy variant
CLN8 p.Thr170Met Conflicting Single submitter
neuronal ceroid lipofuscinosis 8
CLN8 p.Thr242Met Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Val175Ile Conflicting Single submitter
neuronal ceroid lipofuscinosis

Predictors lean, ClinVar uncertain 138

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

CLN8 p.Ala19Val Uncertain significance Multiple submitters
Inborn genetic diseases
CLN8 p.Ala239Val Uncertain significance Multiple submitters
Inborn genetic diseases
CLN8 p.Ala80Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CLN8 p.Ala96Val Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Asn125Ile Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 8
CLN8 p.Asp262Asn Uncertain significance Multiple submitters
CLN8 p.Asp6Asn Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Asp6Gly Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Asp6His Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Asp94His Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Cys149Tyr Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Gln279His Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Glu186Lys Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Glu269Gly Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Gly221Ser Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.His210Gln Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Ile13Met Uncertain significance Multiple submitters
Inborn genetic diseases
CLN8 p.Leu133Phe Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Leu207Val Uncertain significance Multiple submitters
Inborn genetic diseases
CLN8 p.Leu233Val Uncertain significance Multiple submitters
Inborn genetic diseases
CLN8 p.Met200Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CLN8 p.Phe201Ile Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 8
CLN8 p.Phe32Leu Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Pro171Arg Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Pro286Ser Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Ser176Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CLN8 p.Thr108Met Uncertain significance Multiple submitters
Inborn genetic diseases
CLN8 p.Thr162Ser Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Thr163Met Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Trp102Leu Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Trp190Cys Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 8 northern epilepsy variant
CLN8 p.Trp212Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CLN8 p.Tyr18Phe Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Val136Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CLN8 p.Val29Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CLN8 p.Val38Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CLN8 p.Ala120Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Ala160Val Uncertain significance Single submitter
Inborn genetic diseases
CLN8 p.Ala266Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Ala266Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Ala270Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Ala30Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 8
CLN8 p.Ala30Thr Uncertain significance Single submitter
CLN8 p.Ala79Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Arg129Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Arg70Leu Uncertain significance Single submitter
CLN8 p.Arg97Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Arg97Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Asn193Lys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Asn277Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Asn2Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Asn50Ser Uncertain significance Single submitter
Inborn genetic diseases
CLN8 p.Asp6Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Cys115Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Gln100Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Gln194His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Gln76Pro Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Glu167Lys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Glu269Lys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Glu275Gln Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Gly112Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Gly37Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Gly7Ala Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Gly7Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Gly8Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.His106Tyr Uncertain significance Single submitter
Inborn genetic diseases
CLN8 p.His122Tyr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.His139Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 8
CLN8 p.His139Tyr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.His251Arg Uncertain significance Single submitter
Inborn genetic diseases
CLN8 p.His43Gln Uncertain significance Single submitter
Inborn genetic diseases
CLN8 p.Ile127Met Uncertain significance Single submitter
CLN8 p.Ile127Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Ile137Met Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Ile13Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Ile244Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Leu153Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Leu196Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Leu228Pro Uncertain significance Single submitter
Inborn genetic diseases
CLN8 p.Leu228Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Leu235Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Leu27Pro Uncertain significance Single submitter
CLN8 p.Lys191Asn Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Lys271Arg Uncertain significance Single submitter
Inborn genetic diseases
CLN8 p.Lys61Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Lys95Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Met200Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Met200Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Met205Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Met211Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Met211Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 8
CLN8 p.Phe113Leu Uncertain significance Single submitter
CLN8 p.Phe116Leu Uncertain significance Single submitter
CLN8 p.Phe116Ser Uncertain significance Single submitter
CLN8 p.Phe128Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Phe143Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Phe39Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Pro229Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Pro274Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Pro3Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Ser10Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Ser12Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Ser46Tyr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Ser55Ala Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Ser5Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Ser77Asn Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Thr108Ala Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Thr111Ala Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Thr162Asn Uncertain significance Single submitter
CLN8 p.Thr170Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Thr170Ser Uncertain significance Single submitter
CLN8 p.Thr26Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Thr26Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Thr9Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Trp102Cys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Trp195Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Trp195Cys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Trp217Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Trp249Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Tyr227Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Val121Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Val151Ala Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Val175Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Val206Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Val223Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Val236Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Val236Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Val33Ala Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 8 northern epilepsy variant
CLN8 p.Val33Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Gly276Arg Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 8
CLN8 p.Gly7Val Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 8
CLN8 p.Gly81Ser Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 8
CLN8 p.His138Tyr Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 8
CLN8 p.Leu147Phe Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 8
CLN8 p.Leu66Gln Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 8
CLN8 p.Met28Val Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 8
CLN8 p.Pro171Thr Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 8
CLN8 p.Tyr35Ser Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 8

Predictors split 96

The independent predictors disagree with each other — read with care.

CLN8 p.Ala182Val Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Arg129Gln Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Arg129Trp Uncertain significance Multiple submitters
Inborn genetic diseases
CLN8 p.Arg24Cys Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Arg282Gln Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Arg282Trp Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Arg54Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CLN8 p.Arg54His Uncertain significance Multiple submitters
Inborn genetic diseases
CLN8 p.Asn118Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CLN8 p.Asn193Ser Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Asn259Asp Uncertain significance Multiple submitters
Inborn genetic diseases
CLN8 p.Asp17Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CLN8 p.Asp94Asn Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Ile244Met Uncertain significance Multiple submitters
Inborn genetic diseases
CLN8 p.Leu16Met Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Leu36Phe Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Met205Thr Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Phe131Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CLN8 p.Phe32Val Uncertain significance Multiple submitters
Inborn genetic diseases
CLN8 p.Pro89Arg Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Ser124Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
CLN8 p.Ser20Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CLN8 p.Ser47Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CLN8 p.Thr111Met Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Thr26Met Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Thr69Met Uncertain significance Multiple submitters
Inborn genetic diseases
CLN8 p.Trp263Cys Pathogenic Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Val38Phe Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN8 p.Ala120Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Ala120Thr Uncertain significance Single submitter
CLN8 p.Ala155Asp Likely pathogenic Single submitter
CLN8 p.Ala182Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Ala93Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Arg24His Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Arg282Pro Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Arg54Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Arg59Thr Uncertain significance Single submitter
CLN8 p.Arg97Cys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Asn101Lys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Asn118Ser Uncertain significance Single submitter
Inborn genetic diseases
CLN8 p.Asn125Thr Uncertain significance Single submitter
CLN8 p.Asn259Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Asn259Ser Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Asn264Lys Conflicting Single submitter
neuronal ceroid lipofuscinosis 8
CLN8 p.Asp17Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Asp65Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Asp6Tyr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Gln255Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Gln267His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Gln99Arg Uncertain significance Single submitter
CLN8 p.Gly278Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.His157Arg Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.His157Gln Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.His202Gln Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.His230Gln Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.His43Tyr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.His92Asp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Ile107Met Uncertain significance Single submitter
CLN8 p.Leu16Arg Uncertain significance Single submitter
CLN8 p.Leu241Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Leu36Met Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Lys191Gln Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Lys284Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Met168Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Met211Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Met211Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Phe14Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Phe234Ile Uncertain significance Single submitter
Inborn genetic diseases
CLN8 p.Phe63Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Pro89Ala Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Pro89Ser Uncertain significance Single submitter
CLN8 p.Pro89Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Ser187Cys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Ser20Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Ser77Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Thr130Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Thr173Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Thr208Asn Uncertain significance Single submitter
CLN8 p.Thr232Pro Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Trp104Cys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Trp184Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Tyr18Cys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Tyr248Cys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Val261Ala Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Val261Met Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Val41Gly Uncertain significance Single submitter
CLN8 p.Val90Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN8 p.Asn259Thr Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 8
CLN8 p.Cys103Phe Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 8
CLN8 p.Gln256Glu Likely pathogenic No assertion criteria
neuronal ceroid lipofuscinosis 8
CLN8 p.His157Asn Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 8
CLN8 p.Phe131Leu Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 8
CLN8 p.Ser20Thr Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 8
CLN8 p.Thr173Ala Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 8
CLN8 p.Thr250Ile Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 8
CLN8 p.Val72Ala Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 8

All CLN8 variants

Pathogenic 41

p.Arg24Gly Multiple submitters neuronal ceroid lipofuscinosis 8 northern epilepsy variant
p.Gln255Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Trp104Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Trp263Cys Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Val236fs Multiple submitters Inborn genetic diseases
c.543+1G>A Single submitter neuronal ceroid lipofuscinosis
p.Ala142fs Single submitter neuronal ceroid lipofuscinosis 8
p.Ala160fs Single submitter neuronal ceroid lipofuscinosis
p.Ala80fs Single submitter neuronal ceroid lipofuscinosis
p.Arg54fs Single submitter neuronal ceroid lipofuscinosis
p.Asp88fs Single submitter neuronal ceroid lipofuscinosis
p.Asp94fs Single submitter neuronal ceroid lipofuscinosis
p.Cys149Ter Single submitter neuronal ceroid lipofuscinosis 8
p.Cys42Ter Single submitter neuronal ceroid lipofuscinosis
p.Gln100Ter Single submitter neuronal ceroid lipofuscinosis
p.Gln256Ter Single submitter neuronal ceroid lipofuscinosis
p.Gln44Ter Single submitter neuronal ceroid lipofuscinosis
p.Gln76Ter Single submitter neuronal ceroid lipofuscinosis
p.Glu186fs Single submitter neuronal ceroid lipofuscinosis
p.Gly183fs Single submitter neuronal ceroid lipofuscinosis
p.His106fs Single submitter neuronal ceroid lipofuscinosis
p.Ile23_Ser25del Single submitter neuronal ceroid lipofuscinosis
p.Leu126Ter Single submitter neuronal ceroid lipofuscinosis
p.Leu180Ter Single submitter neuronal ceroid lipofuscinosis
p.Lys95Ter Single submitter neuronal ceroid lipofuscinosis
p.Met1* Single submitter neuronal ceroid lipofuscinosis 8 northern epilepsy variant
p.Met1Leu Single submitter neuronal ceroid lipofuscinosis
p.Phe143fs Single submitter neuronal ceroid lipofuscinosis
p.Trp177Ter Single submitter neuronal ceroid lipofuscinosis
p.Trp184Ter Single submitter neuronal ceroid lipofuscinosis
p.Trp212Ter Single submitter neuronal ceroid lipofuscinosis
p.Trp263Ter Single submitter neuronal ceroid lipofuscinosis
p.Trp64Ter Single submitter neuronal ceroid lipofuscinosis
p.Trp83Ter Single submitter neuronal ceroid lipofuscinosis
p.Tyr209Ter Single submitter neuronal ceroid lipofuscinosis
p.Tyr227fs Single submitter neuronal ceroid lipofuscinosis
p.Tyr35Ter Single submitter neuronal ceroid lipofuscinosis
p.Tyr53Ter Single submitter neuronal ceroid lipofuscinosis
p.Val38fs Single submitter neuronal ceroid lipofuscinosis
p.Val41fs Single submitter neuronal ceroid lipofuscinosis
p.Ala30Pro No assertion criteria neuronal ceroid lipofuscinosis 8

Pathogenic/Likely pathogenic 15

p.Arg204Cys Multiple submitters neuronal ceroid lipofuscinosis 8 northern epilepsy variant
p.Arg70Cys Multiple submitters neuronal ceroid lipofuscinosis 8
p.Arg70His Multiple submitters neuronal ceroid lipofuscinosis
p.Gln99Ter Multiple submitters neuronal ceroid lipofuscinosis 8
p.Glu167Ter Multiple submitters Inborn genetic diseases
p.Gly237Arg Multiple submitters neuronal ceroid lipofuscinosis
p.Leu133Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Leu188fs Multiple submitters neuronal ceroid lipofuscinosis
p.Met1Val Multiple submitters neuronal ceroid lipofuscinosis
p.Met200fs Multiple submitters neuronal ceroid lipofuscinosis 8
p.Ser10Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Tyr158Cys Multiple submitters neuronal ceroid lipofuscinosis 8
p.Ala30fs No assertion criteria neuronal ceroid lipofuscinosis 8
p.Ile23fs No assertion criteria neuronal ceroid lipofuscinosis 8
p.Lys61del No assertion criteria neuronal ceroid lipofuscinosis 8

Likely pathogenic 28

p.Arg204His Multiple submitters neuronal ceroid lipofuscinosis
p.Leu207Arg Multiple submitters neuronal ceroid lipofuscinosis
c.543+1G>T Single submitter neuronal ceroid lipofuscinosis
c.544-1G>T Single submitter neuronal ceroid lipofuscinosis 8
p.Ala155Asp Single submitter ⚠
p.Arg204Gly Single submitter neuronal ceroid lipofuscinosis
p.Arg24Leu Single submitter neuronal ceroid lipofuscinosis
p.Asn118fs Single submitter neuronal ceroid lipofuscinosis 8 northern epilepsy variant
p.Asp15fs Single submitter neuronal ceroid lipofuscinosis
p.Cys203Arg Single submitter neuronal ceroid lipofuscinosis 8
p.Cys203Ter Single submitter neuronal ceroid lipofuscinosis 8 northern epilepsy variant
p.Gly31Asp Single submitter Inborn genetic diseases
p.Lys253Glu Single submitter Seizure
p.Thr242fs Single submitter neuronal ceroid lipofuscinosis
p.Trp213del Single submitter neuronal ceroid lipofuscinosis 8
p.Tyr158Ser Single submitter neuronal ceroid lipofuscinosis
c.544-2A>G No assertion criteria neuronal ceroid lipofuscinosis 8
p.Ala155Val No assertion criteria neuronal ceroid lipofuscinosis 8 ⚠
p.Asp17fs No assertion criteria neuronal ceroid lipofuscinosis 8
p.Gln194Arg No assertion criteria neuronal ceroid lipofuscinosis 8
p.Gln256Glu No assertion criteria neuronal ceroid lipofuscinosis 8 ⚠
p.Gln76Arg No assertion criteria neuronal ceroid lipofuscinosis 8
p.His199fs No assertion criteria neuronal ceroid lipofuscinosis 8
p.Ile107Ser No assertion criteria neuronal ceroid lipofuscinosis 8
p.Leu16fs No assertion criteria neuronal ceroid lipofuscinosis 8
p.Met1Thr No assertion criteria neuronal ceroid lipofuscinosis 8
p.Thr69fs No assertion criteria neuronal ceroid lipofuscinosis 8
p.Trp102Ter No assertion criteria neuronal ceroid lipofuscinosis 8

Conflicting classifications of pathogenicity 28

c.544-6A>T Single submitter neuronal ceroid lipofuscinosis
p.Ala266Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala4Val Single submitter Inborn genetic diseases ⚠
p.Ala51Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala67Val Single submitter neuronal ceroid lipofuscinosis 8 northern epilepsy variant ⚠
p.Arg204Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg24His Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg70Pro Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn125Ser Single submitter Inborn genetic diseases ⚠
p.Asn152Ser Single submitter Inborn genetic diseases ⚠
p.Asn259Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn264Lys Single submitter neuronal ceroid lipofuscinosis 8 ⚠
p.Cys174= Single submitter neuronal ceroid lipofuscinosis
p.Gln279= Single submitter neuronal ceroid lipofuscinosis
p.Gln279Ter Single submitter neuronal ceroid lipofuscinosis
p.Glu269Val Single submitter Inborn genetic diseases ⚠
p.Gly276fs Single submitter neuronal ceroid lipofuscinosis 8
p.His157Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu86= Single submitter neuronal ceroid lipofuscinosis
p.Phe216= Single submitter Inborn genetic diseases
p.Pro260Leu Single submitter neuronal ceroid lipofuscinosis 8 northern epilepsy variant ⚠
p.Thr170Met Single submitter neuronal ceroid lipofuscinosis 8 ⚠
p.Thr242Met Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr69= Single submitter Inborn genetic diseases
p.Trp213fs Single submitter neuronal ceroid lipofuscinosis 8
p.Val175Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val261Ala Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser169= No assertion criteria neuronal ceroid lipofuscinosis 8

Benign 12

c.544-124T>C Multiple submitters neuronal ceroid lipofuscinosis 8 northern epilepsy variant
c.544-227A>G Multiple submitters neuronal ceroid lipofuscinosis 8
c.-123-127C>T Multiple submitters
c.-126C>T Multiple submitters
p.Pro229Ala Multiple submitters Inborn genetic diseases
c.543+1327G>A Single submitter
c.-108G>A Single submitter
c.-123-225G>C Single submitter
c.-124+113G>A Single submitter
c.-129G>T Single submitter
c.-46C>T Single submitter
p.Trp213Cys Single submitter neuronal ceroid lipofuscinosis

Benign/Likely benign 7

c.-123-4T>C Multiple submitters neuronal ceroid lipofuscinosis 8 northern epilepsy variant
p.Arg282= Multiple submitters neuronal ceroid lipofuscinosis
p.Arg97His Multiple submitters Inborn genetic diseases
p.Asn259= Multiple submitters Inborn genetic diseases
p.His106= Multiple submitters Inborn genetic diseases
p.His92Tyr Multiple submitters Inborn genetic diseases
p.Leu188= Multiple submitters neuronal ceroid lipofuscinosis

Likely benign 170

p.Ala93= Multiple submitters neuronal ceroid lipofuscinosis
p.Ala96= Multiple submitters neuronal ceroid lipofuscinosis 8 northern epilepsy variant
p.Asn277= Multiple submitters neuronal ceroid lipofuscinosis
p.Gln100= Multiple submitters neuronal ceroid lipofuscinosis 8 northern epilepsy variant
p.Gln99= Multiple submitters neuronal ceroid lipofuscinosis
p.Leu165= Multiple submitters neuronal ceroid lipofuscinosis
p.Leu222= Multiple submitters Inborn genetic diseases
p.Ser5= Multiple submitters neuronal ceroid lipofuscinosis
p.Thr111= Multiple submitters Inborn genetic diseases
p.Val121= Multiple submitters neuronal ceroid lipofuscinosis
p.Val236= Multiple submitters neuronal ceroid lipofuscinosis
p.Val62= Multiple submitters neuronal ceroid lipofuscinosis
p.Val90= Multiple submitters neuronal ceroid lipofuscinosis
c.543+12_543+20dup Single submitter neuronal ceroid lipofuscinosis
c.543+12C>G Single submitter neuronal ceroid lipofuscinosis
c.543+1329G>A Single submitter
c.543+1358A>C Single submitter
c.543+13A>C Single submitter neuronal ceroid lipofuscinosis
c.543+14T>G Single submitter neuronal ceroid lipofuscinosis
c.543+17G>T Single submitter neuronal ceroid lipofuscinosis
c.543+19A>C Single submitter neuronal ceroid lipofuscinosis
c.543+7G>A Single submitter neuronal ceroid lipofuscinosis
c.543+9A>C Single submitter neuronal ceroid lipofuscinosis
c.543+9A>G Single submitter neuronal ceroid lipofuscinosis
c.544-15C>T Single submitter neuronal ceroid lipofuscinosis
c.544-19T>G Single submitter neuronal ceroid lipofuscinosis
c.544-4G>A Single submitter neuronal ceroid lipofuscinosis
c.544-5T>C Single submitter neuronal ceroid lipofuscinosis
c.544-6A>C Single submitter neuronal ceroid lipofuscinosis
c.544-8C>A Single submitter neuronal ceroid lipofuscinosis
c.-113G>T Single submitter
c.-116A>T Single submitter
c.-120G>A Single submitter
c.-121T>A Single submitter
c.-122T>G Single submitter
c.-123-328C>G Single submitter
c.-124+7G>A Single submitter
c.-1A>T Single submitter
c.*14G>T Single submitter
c.*25G>A Single submitter
p.Ala110= Single submitter neuronal ceroid lipofuscinosis
p.Ala120= Single submitter neuronal ceroid lipofuscinosis
p.Ala142= Single submitter neuronal ceroid lipofuscinosis
p.Ala182= Single submitter neuronal ceroid lipofuscinosis
p.Ala19= Single submitter neuronal ceroid lipofuscinosis
p.Ala266= Single submitter neuronal ceroid lipofuscinosis
p.Ala270= Single submitter neuronal ceroid lipofuscinosis
p.Ala30= Single submitter neuronal ceroid lipofuscinosis
p.Ala4= Single submitter neuronal ceroid lipofuscinosis
p.Ala51= Single submitter neuronal ceroid lipofuscinosis
p.Ala58= Single submitter neuronal ceroid lipofuscinosis
p.Ala67= Single submitter neuronal ceroid lipofuscinosis
p.Ala68= Single submitter neuronal ceroid lipofuscinosis
p.Ala71= Single submitter neuronal ceroid lipofuscinosis
p.Ala79= Single submitter neuronal ceroid lipofuscinosis
p.Arg129= Single submitter neuronal ceroid lipofuscinosis
p.Arg204= Single submitter neuronal ceroid lipofuscinosis
p.Arg24= Single submitter neuronal ceroid lipofuscinosis
p.Arg285= Single submitter neuronal ceroid lipofuscinosis
p.Arg70= Single submitter neuronal ceroid lipofuscinosis
p.Arg97= Single submitter neuronal ceroid lipofuscinosis
p.Asn101= Single submitter neuronal ceroid lipofuscinosis
p.Asn125= Single submitter neuronal ceroid lipofuscinosis
p.Asn246= Single submitter neuronal ceroid lipofuscinosis
p.Asn264= Single submitter neuronal ceroid lipofuscinosis
p.Asp220= Single submitter neuronal ceroid lipofuscinosis
p.Asp6= Single submitter neuronal ceroid lipofuscinosis
p.Cys115= Single submitter neuronal ceroid lipofuscinosis
p.Cys203= Single submitter neuronal ceroid lipofuscinosis
p.Cys42= Single submitter neuronal ceroid lipofuscinosis
p.Gln154= Single submitter neuronal ceroid lipofuscinosis
p.Gln194= Single submitter neuronal ceroid lipofuscinosis
p.Gln76= Single submitter neuronal ceroid lipofuscinosis
p.Glu11= Single submitter neuronal ceroid lipofuscinosis
p.Glu186= Single submitter neuronal ceroid lipofuscinosis
p.Glu60= Single submitter neuronal ceroid lipofuscinosis
p.Gly112= Single submitter neuronal ceroid lipofuscinosis
p.Gly145= Single submitter neuronal ceroid lipofuscinosis
p.Gly156= Single submitter neuronal ceroid lipofuscinosis
p.Gly22= Single submitter neuronal ceroid lipofuscinosis
p.Gly221= Single submitter neuronal ceroid lipofuscinosis
p.Gly278= Single submitter neuronal ceroid lipofuscinosis
p.Gly31= Single submitter neuronal ceroid lipofuscinosis
p.Gly37= Single submitter neuronal ceroid lipofuscinosis
p.Gly7= Single submitter neuronal ceroid lipofuscinosis
p.Gly74= Single submitter neuronal ceroid lipofuscinosis
p.Gly87= Single submitter neuronal ceroid lipofuscinosis
p.Gly98= Single submitter neuronal ceroid lipofuscinosis
p.His122= Single submitter neuronal ceroid lipofuscinosis
p.His210= Single submitter neuronal ceroid lipofuscinosis
p.His251= Single submitter neuronal ceroid lipofuscinosis
p.Ile107= Single submitter neuronal ceroid lipofuscinosis
p.Ile13= Single submitter neuronal ceroid lipofuscinosis
p.Ile137= Single submitter neuronal ceroid lipofuscinosis
p.Leu123= Single submitter neuronal ceroid lipofuscinosis
p.Leu126= Single submitter neuronal ceroid lipofuscinosis
p.Leu133= Single submitter neuronal ceroid lipofuscinosis
p.Leu135= Single submitter neuronal ceroid lipofuscinosis
p.Leu140= Single submitter neuronal ceroid lipofuscinosis
p.Leu153= Single submitter neuronal ceroid lipofuscinosis
p.Leu159= Single submitter neuronal ceroid lipofuscinosis
p.Leu16= Single submitter neuronal ceroid lipofuscinosis
p.Leu164= Single submitter neuronal ceroid lipofuscinosis
p.Leu166= Single submitter neuronal ceroid lipofuscinosis
p.Leu179= Single submitter neuronal ceroid lipofuscinosis
p.Leu192= Single submitter neuronal ceroid lipofuscinosis
p.Leu196= Single submitter neuronal ceroid lipofuscinosis
p.Leu226= Single submitter neuronal ceroid lipofuscinosis
p.Leu228= Single submitter neuronal ceroid lipofuscinosis
p.Leu231= Single submitter neuronal ceroid lipofuscinosis
p.Leu233= Single submitter neuronal ceroid lipofuscinosis
p.Leu235= Single submitter neuronal ceroid lipofuscinosis
p.Leu238= Single submitter neuronal ceroid lipofuscinosis
p.Leu240= Single submitter neuronal ceroid lipofuscinosis
p.Leu258= Single submitter neuronal ceroid lipofuscinosis
p.Leu280= Single submitter neuronal ceroid lipofuscinosis
p.Leu281= Single submitter neuronal ceroid lipofuscinosis
p.Leu45= Single submitter neuronal ceroid lipofuscinosis
p.Leu49= Single submitter neuronal ceroid lipofuscinosis
p.Leu66= Single submitter neuronal ceroid lipofuscinosis
p.Leu82= Single submitter neuronal ceroid lipofuscinosis
p.Leu91= Single submitter neuronal ceroid lipofuscinosis
p.Lys191= Single submitter neuronal ceroid lipofuscinosis
p.Lys253= Single submitter neuronal ceroid lipofuscinosis
p.Lys271= Single submitter neuronal ceroid lipofuscinosis
p.Lys283= Single submitter neuronal ceroid lipofuscinosis
p.Phe128= Single submitter neuronal ceroid lipofuscinosis
p.Phe143= Single submitter neuronal ceroid lipofuscinosis
p.Phe234= Single submitter neuronal ceroid lipofuscinosis
p.Phe265= Single submitter neuronal ceroid lipofuscinosis
p.Phe34= Single submitter neuronal ceroid lipofuscinosis
p.Pro171= Single submitter neuronal ceroid lipofuscinosis
p.Pro247= Single submitter neuronal ceroid lipofuscinosis
p.Pro260= Single submitter neuronal ceroid lipofuscinosis
p.Pro268= Single submitter neuronal ceroid lipofuscinosis
p.Pro274= Single submitter neuronal ceroid lipofuscinosis
p.Pro286= Single submitter neuronal ceroid lipofuscinosis
p.Pro3= Single submitter neuronal ceroid lipofuscinosis
p.Ser124= Single submitter neuronal ceroid lipofuscinosis
p.Ser185= Single submitter neuronal ceroid lipofuscinosis
p.Ser187= Single submitter neuronal ceroid lipofuscinosis
p.Ser225= Single submitter neuronal ceroid lipofuscinosis
p.Ser25= Single submitter neuronal ceroid lipofuscinosis
p.Ser48= Single submitter neuronal ceroid lipofuscinosis
p.Ser77= Single submitter neuronal ceroid lipofuscinosis
p.Ter287= Single submitter neuronal ceroid lipofuscinosis
p.Thr108= Single submitter neuronal ceroid lipofuscinosis
p.Thr109= Single submitter neuronal ceroid lipofuscinosis
p.Thr130= Single submitter neuronal ceroid lipofuscinosis
p.Thr162= Single submitter neuronal ceroid lipofuscinosis
p.Thr163= Single submitter neuronal ceroid lipofuscinosis
p.Thr170= Single submitter neuronal ceroid lipofuscinosis
p.Thr208= Single submitter neuronal ceroid lipofuscinosis
p.Thr232= Single submitter neuronal ceroid lipofuscinosis
p.Thr242= Single submitter neuronal ceroid lipofuscinosis
p.Thr250= Single submitter neuronal ceroid lipofuscinosis
p.Thr26= Single submitter neuronal ceroid lipofuscinosis
p.Thr78= Single submitter neuronal ceroid lipofuscinosis
p.Thr9= Single submitter neuronal ceroid lipofuscinosis
p.Tyr158= Single submitter neuronal ceroid lipofuscinosis
p.Tyr248= Single submitter neuronal ceroid lipofuscinosis
p.Tyr53= Single submitter neuronal ceroid lipofuscinosis
p.Val136= Single submitter neuronal ceroid lipofuscinosis
p.Val151= Single submitter neuronal ceroid lipofuscinosis
p.Val206= Single submitter neuronal ceroid lipofuscinosis
p.Val223= Single submitter neuronal ceroid lipofuscinosis
p.Val29= Single submitter neuronal ceroid lipofuscinosis
p.Val38= Single submitter neuronal ceroid lipofuscinosis
p.Val41= Single submitter neuronal ceroid lipofuscinosis
p.Val72= Single submitter neuronal ceroid lipofuscinosis

Uncertain significance 240

c.-125_-124+19dup Multiple submitters neuronal ceroid lipofuscinosis
p.Ala182Val Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ala19Val Multiple submitters Inborn genetic diseases ⚠
p.Ala239Val Multiple submitters Inborn genetic diseases ⚠
p.Ala80Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala96Val Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Arg129Gln Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Arg129Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg24Cys Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Arg282Gln Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Arg282Trp Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Arg54Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg54His Multiple submitters Inborn genetic diseases ⚠
p.Asn118Thr Multiple submitters Inborn genetic diseases ⚠
p.Asn125Ile Multiple submitters neuronal ceroid lipofuscinosis 8 ⚠
p.Asn193Ser Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Asn259Asp Multiple submitters Inborn genetic diseases ⚠
p.Asp17Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp262Asn Multiple submitters ⚠
p.Asp6Asn Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Asp6Gly Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Asp6His Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Asp94Asn Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Asp94His Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Cys149Tyr Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Gln279His Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Glu186Lys Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Glu269Gly Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Gly221Ser Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.His210Gln Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ile13Met Multiple submitters Inborn genetic diseases ⚠
p.Ile244Met Multiple submitters Inborn genetic diseases ⚠
p.Leu133Phe Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Leu16Met Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Leu207Val Multiple submitters Inborn genetic diseases ⚠
p.Leu233Val Multiple submitters Inborn genetic diseases ⚠
p.Leu36Phe Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Met200Thr Multiple submitters Inborn genetic diseases ⚠
p.Met205Thr Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Phe131Cys Multiple submitters Inborn genetic diseases ⚠
p.Phe201Ile Multiple submitters neuronal ceroid lipofuscinosis 8 ⚠
p.Phe32Leu Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Phe32Val Multiple submitters Inborn genetic diseases ⚠
p.Pro171Arg Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Pro286Ser Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Pro89Arg Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ser124Tyr Multiple submitters Inborn genetic diseases ⚠
p.Ser176Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser20Cys Multiple submitters Inborn genetic diseases ⚠
p.Ser47Phe Multiple submitters Inborn genetic diseases ⚠
p.Thr108Met Multiple submitters Inborn genetic diseases ⚠
p.Thr111Met Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Thr162Ser Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Thr163Met Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Thr26Met Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Thr69Met Multiple submitters Inborn genetic diseases ⚠
p.Trp102Leu Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Trp190Cys Multiple submitters neuronal ceroid lipofuscinosis 8 northern epilepsy variant ⚠
p.Trp212Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr18Phe Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Val136Phe Multiple submitters Inborn genetic diseases ⚠
p.Val29Phe Multiple submitters Inborn genetic diseases ⚠
p.Val38Ile Multiple submitters Inborn genetic diseases ⚠
p.Val38Phe Multiple submitters neuronal ceroid lipofuscinosis ⚠
c.543+5G>C Single submitter neuronal ceroid lipofuscinosis
c.544-2A>C Single submitter neuronal ceroid lipofuscinosis
c.544-3C>T Single submitter
c.-139_-124+21del Single submitter
p.Ala120Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala120Thr Single submitter ⚠
p.Ala120Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala160Val Single submitter Inborn genetic diseases ⚠
p.Ala182Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala266Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala266Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala270Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala30Ser Single submitter neuronal ceroid lipofuscinosis 8 ⚠
p.Ala30Thr Single submitter ⚠
p.Ala79Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala93Gly Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg129Gly Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg282Pro Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg54Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg59Thr Single submitter ⚠
p.Arg70Leu Single submitter ⚠
p.Arg97Cys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg97Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg97Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn101Lys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn118Ser Single submitter Inborn genetic diseases ⚠
p.Asn125Thr Single submitter ⚠
p.Asn193Lys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn259Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn277Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn2Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn50Ser Single submitter Inborn genetic diseases ⚠
p.Asp17Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asp65Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asp6Glu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asp6Tyr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Cys115Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gln100Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gln194His Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gln255Glu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gln267His Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gln76Pro Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gln99Arg Single submitter ⚠
p.Glu167Lys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu269Lys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu275Gln Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu275Ter Single submitter neuronal ceroid lipofuscinosis 8
p.Gly112Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly278Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly37Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly7Ala Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly7Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly8Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.His106Tyr Single submitter Inborn genetic diseases ⚠
p.His122Tyr Single submitter neuronal ceroid lipofuscinosis ⚠
p.His139Arg Single submitter neuronal ceroid lipofuscinosis 8 ⚠
p.His139Tyr Single submitter neuronal ceroid lipofuscinosis ⚠
p.His157Gln Single submitter neuronal ceroid lipofuscinosis ⚠
p.His202Gln Single submitter neuronal ceroid lipofuscinosis ⚠
p.His230Gln Single submitter neuronal ceroid lipofuscinosis ⚠
p.His251Arg Single submitter Inborn genetic diseases ⚠
p.His43Gln Single submitter Inborn genetic diseases ⚠
p.His43Tyr Single submitter neuronal ceroid lipofuscinosis ⚠
p.His92Asp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile107Met Single submitter ⚠
p.Ile127Met Single submitter ⚠
p.Ile127Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile137Met Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile13Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile244Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu153Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu16Arg Single submitter ⚠
p.Leu196Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu228Pro Single submitter Inborn genetic diseases ⚠
p.Leu228Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu235Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu241Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu27Pro Single submitter ⚠
p.Leu36Met Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys191Asn Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys191Gln Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys271Arg Single submitter Inborn genetic diseases ⚠
p.Lys284Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys61Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys95Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Met168Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Met200Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Met200Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Met205Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Met211Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Met211Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Met211Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Met211Val Single submitter neuronal ceroid lipofuscinosis 8 ⚠
p.Phe113Leu Single submitter ⚠
p.Phe116Leu Single submitter ⚠
p.Phe116Ser Single submitter ⚠
p.Phe128Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Phe143Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Phe14Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Phe234Ile Single submitter Inborn genetic diseases ⚠
p.Phe39Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Phe63Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro229Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro268fs Single submitter neuronal ceroid lipofuscinosis
p.Pro274Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro3Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro89Ala Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro89Ser Single submitter ⚠
p.Pro89Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser10Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser12Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser187Cys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser20Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser46Tyr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser55Ala Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser5Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser77Asn Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser77Gly Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ter287LeuextTer? Single submitter neuronal ceroid lipofuscinosis
p.Ter287Tyr Single submitter
p.Thr108Ala Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr111Ala Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr130Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr162Asn Single submitter ⚠
p.Thr170Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr170Ser Single submitter ⚠
p.Thr173Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr208Asn Single submitter ⚠
p.Thr232Pro Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr26Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr26Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr9Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Trp102Cys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Trp104Cys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Trp184Gly Single submitter neuronal ceroid lipofuscinosis ⚠
p.Trp195Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Trp195Cys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Trp217Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Trp249Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Tyr18Cys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Tyr227Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Tyr248Cys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val121Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val151Ala Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val175Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val206Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val223Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val236Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val236Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val261Met Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val33Ala Single submitter neuronal ceroid lipofuscinosis 8 northern epilepsy variant ⚠
p.Val33Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val41Gly Single submitter ⚠
p.Val90Leu Single submitter neuronal ceroid lipofuscinosis ⚠
c.-123-1G>C No assertion criteria neuronal ceroid lipofuscinosis 8
c.-131_-124+13del No assertion criteria neuronal ceroid lipofuscinosis 8
p.Asn259Thr No assertion criteria neuronal ceroid lipofuscinosis 8 ⚠
p.Cys103Phe No assertion criteria neuronal ceroid lipofuscinosis 8 ⚠
p.Gly276Arg No assertion criteria neuronal ceroid lipofuscinosis 8 ⚠
p.Gly7Val No assertion criteria neuronal ceroid lipofuscinosis 8 ⚠
p.Gly81Ser No assertion criteria neuronal ceroid lipofuscinosis 8 ⚠
p.His138Tyr No assertion criteria neuronal ceroid lipofuscinosis 8 ⚠
p.His157Asn No assertion criteria neuronal ceroid lipofuscinosis 8 ⚠
p.Leu144= No assertion criteria neuronal ceroid lipofuscinosis 8
p.Leu147Phe No assertion criteria neuronal ceroid lipofuscinosis 8 ⚠
p.Leu66Gln No assertion criteria neuronal ceroid lipofuscinosis 8 ⚠
p.Lys95= No assertion criteria neuronal ceroid lipofuscinosis 8
p.Met28Val No assertion criteria neuronal ceroid lipofuscinosis 8 ⚠
p.Phe131Leu No assertion criteria neuronal ceroid lipofuscinosis 8 ⚠
p.Pro171Thr No assertion criteria neuronal ceroid lipofuscinosis 8 ⚠
p.Ser20Thr No assertion criteria neuronal ceroid lipofuscinosis 8 ⚠
p.Thr173Ala No assertion criteria neuronal ceroid lipofuscinosis 8 ⚠
p.Thr250Ile No assertion criteria neuronal ceroid lipofuscinosis 8 ⚠
p.Tyr227Ter No assertion criteria neuronal ceroid lipofuscinosis 8
p.Tyr35Ser No assertion criteria neuronal ceroid lipofuscinosis 8 ⚠
p.Val72Ala No assertion criteria neuronal ceroid lipofuscinosis 8 ⚠