PPT1 — 723 ClinVar variants

All ClinVar germline PPT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 184 flagged for review →

53 Pathogenic · 26 Pathogenic/Likely pathogenic · 79 Likely pathogenic · 29 Conflicting · 40 Benign · 13 Benign/Likely benign · 259 Likely benign · 224 Uncertain significance

Full PPT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 184

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.

PPT1 p.Thr75Asn Likely pathogenic Single submitter
neuronal ceroid lipofuscinosis 1

Predictors agree, ClinVar conflicts 9

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

PPT1 p.Ala123Thr Conflicting Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Cys96Arg Conflicting Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Cys96Tyr Conflicting Single submitter
neuronal ceroid lipofuscinosis
PPT1 p.Gly145Arg Conflicting Single submitter
Inborn genetic diseases
PPT1 p.Gly145Ser Conflicting Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Ile302Val Conflicting Single submitter
Inborn genetic diseases
PPT1 p.Phe225Ser Conflicting Single submitter
neuronal ceroid lipofuscinosis
PPT1 p.Ser241Leu Conflicting Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Trp38Cys Conflicting Single submitter
neuronal ceroid lipofuscinosis 1

Predictors lean, ClinVar uncertain 115

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

PPT1 p.Ala13Gly Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Ala98Glu Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Arg151Gln Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Arg179His Uncertain significance Multiple submitters
Inborn genetic diseases
PPT1 p.Arg268His Uncertain significance Multiple submitters
Inborn genetic diseases
PPT1 p.Asp188Glu Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Asp240Asn Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Asp275Val Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Cys6Phe Uncertain significance Multiple submitters
Inborn genetic diseases
PPT1 p.Cys6Ser Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Cys6Tyr Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Gln106Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PPT1 p.Glu254Asp Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Glu286Lys Uncertain significance Multiple submitters
Inborn genetic diseases
PPT1 p.Gly210Arg Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Gly5Ala Uncertain significance Multiple submitters
Inborn genetic diseases
PPT1 p.His143Arg Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.His158Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PPT1 p.His158Tyr Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Ile302Met Uncertain significance Multiple submitters
Inborn genetic diseases
PPT1 p.Leu149Ile Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Leu14Phe Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Lys216Arg Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Pro257Thr Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Pro29Gln Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Ser293Phe Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Ser3Leu Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Val139Ala Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Val226Met Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Val67Ile Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Ala169Ser Uncertain significance Single submitter
PPT1 p.Ala171Pro Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Ala183Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Ala20Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Ala221Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Ala23Thr Uncertain significance Single submitter
Inborn genetic diseases
PPT1 p.Ala299Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Ala2Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Ala2Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Ala98Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Arg22Pro Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Arg22Trp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Asn212Tyr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Asn232Lys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Asn232Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Asn82Lys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Asp288Asn Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Asp28Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Cys19Trp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Cys45Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Gln116Arg Uncertain significance Single submitter
PPT1 p.Gln251Pro Uncertain significance Single submitter
Inborn genetic diseases
PPT1 p.Glu192Lys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Glu273Lys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Glu81Lys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Gly141Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Gly148Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Gly170Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Gly210Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Gly210Val Uncertain significance Single submitter
Inborn genetic diseases
PPT1 p.Gly245Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Gly306Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Gly40Arg Uncertain significance Single submitter
Inborn genetic diseases
PPT1 p.Gly42Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Gly52Ala Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Gly52Asp Uncertain significance Single submitter
PPT1 p.His143Leu Uncertain significance Single submitter
Inborn genetic diseases
PPT1 p.His300Pro Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Ile137Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Ile235Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Ile301Asn Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Ile62Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Leu14Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Leu24Pro Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Leu305Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Leu33Gln Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Leu49Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Leu9Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Lys101Glu Uncertain significance Single submitter
PPT1 p.Lys174Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Lys174Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Lys216Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Lys61Arg Uncertain significance Single submitter
Inborn genetic diseases
PPT1 p.Met112Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Met112Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Met274Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Met77Val Uncertain significance Single submitter
PPT1 p.Phe114Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Pro189Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Pro303Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Pro30Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Pro30Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Pro4Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Ser156Asn Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Ser157Cys Uncertain significance Single submitter
PPT1 p.Ser293Pro Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Thr265Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Thr93Ala Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Trp17Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Trp17Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Trp38Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Tyr185His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Tyr195Asp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Tyr215Cys Uncertain significance Single submitter
PPT1 p.Tyr66Cys Uncertain significance Single submitter
PPT1 p.Val12Ala Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Val95Met Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Asn218Lys Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 1
PPT1 p.His26Gln Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 1
PPT1 p.Leu10Phe Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 1
PPT1 p.Leu68Ser Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 1
PPT1 p.Lys165Glu Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 1
PPT1 p.Thr166Ala Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 1
PPT1 p.Thr18Ser Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 1
PPT1 p.Val175Ala Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 1

Predictors split 59

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

PPT1 p.Ala171Val Uncertain significance Multiple submitters
Inborn genetic diseases
PPT1 p.Ala277Val Uncertain significance Multiple submitters
Inborn genetic diseases
PPT1 p.Arg164Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PPT1 p.Arg196Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PPT1 p.Arg196His Uncertain significance Multiple submitters
Inborn genetic diseases
PPT1 p.Arg268Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PPT1 p.Asn110Asp Uncertain significance Multiple submitters
Inborn genetic diseases
PPT1 p.Asn135Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PPT1 p.Asn212Asp Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Asn212Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PPT1 p.Leu292Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PPT1 p.Leu7Met Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Lys216Gln Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Met57Lys Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Phe147Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PPT1 p.Ser21Phe Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Tyr195His Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 1
PPT1 p.Ala203Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Arg151Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Arg179Cys Conflicting Single submitter
Inborn genetic diseases
PPT1 p.Arg209Gln Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Arg268Ser Uncertain significance Single submitter
Inborn genetic diseases
PPT1 p.Asn110Ser Conflicting Single submitter
Inborn genetic diseases
PPT1 p.Asn87Ser Uncertain significance Single submitter
Inborn genetic diseases
PPT1 p.Asn89Asp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Asp237Val Uncertain significance Single submitter
Inborn genetic diseases
PPT1 p.Asp79Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Gln144Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Gln91Glu Uncertain significance Single submitter
PPT1 p.Glu59Lys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Glu78Ala Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Glu78Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Gly148Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Gly250Asp Conflicting Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Gly250Ser Conflicting Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Gly278Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Gly64Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Gly64Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Ile134Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Ile302Thr Uncertain significance Single submitter
Inborn genetic diseases
PPT1 p.Leu231Arg Uncertain significance Single submitter
PPT1 p.Leu305Ile Uncertain significance Single submitter
Inborn genetic diseases
PPT1 p.Leu9Pro Uncertain significance Single submitter
Inborn genetic diseases
PPT1 p.Lys104Glu Conflicting Single submitter
Inborn genetic diseases
PPT1 p.Lys191Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Lys56Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Met57Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Phe297Leu Uncertain significance Single submitter
Inborn genetic diseases
PPT1 p.Phe304Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Pro129Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Pro153Ala Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Pro257Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Pro48Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Ser249Cys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Val80Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.Val80Met Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 1
PPT1 p.His187Arg Likely pathogenic No assertion criteria
neuronal ceroid lipofuscinosis 1
PPT1 p.Lys56Arg Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 1
PPT1 p.Ser50Gly Uncertain significance No assertion criteria
neuronal ceroid lipofuscinosis 1

All PPT1 variants

Pathogenic 53

c.234+1G>A Multiple submitters neuronal ceroid lipofuscinosis 1
c.433+1G>A Multiple submitters neuronal ceroid lipofuscinosis 1
c.628-1G>T Multiple submitters PPT1-related disorder
c.798+2T>C Multiple submitters neuronal ceroid lipofuscinosis 1
p.Arg122Trp Multiple submitters Inborn genetic diseases
p.Arg164Ter Multiple submitters neuronal ceroid lipofuscinosis 1
p.Glu260fs Multiple submitters neuronal ceroid lipofuscinosis 1
p.Glu59fs Multiple submitters neuronal ceroid lipofuscinosis 1
p.Leu10Ter Multiple submitters PPT1-related disorder
p.Lys55Ter Multiple submitters neuronal ceroid lipofuscinosis 1
p.Met1Leu Multiple submitters neuronal ceroid lipofuscinosis 1
p.Thr75Pro Multiple submitters Inborn genetic diseases
p.Val181Met Multiple submitters PPT1-related disorder
c.124+1215_235-103del Single submitter neuronal ceroid lipofuscinosis 1
c.124+1G>A Single submitter neuronal ceroid lipofuscinosis 1
c.125-2A>T Single submitter neuronal ceroid lipofuscinosis 1
c.628-2A>T Single submitter neuronal ceroid lipofuscinosis 1
c.727-1G>A Single submitter neuronal ceroid lipofuscinosis 1
c.798+1G>A Single submitter neuronal ceroid lipofuscinosis 1
p.Ala100fs Single submitter neuronal ceroid lipofuscinosis 1
p.Ala203fs Single submitter neuronal ceroid lipofuscinosis 1
p.Cys160_Asp161delinsTer Single submitter neuronal ceroid lipofuscinosis 1
p.Cys45Tyr Single submitter neuronal ceroid lipofuscinosis 1
p.Gln106Ter Single submitter neuronal ceroid lipofuscinosis 1
p.Gln107Ter Single submitter neuronal ceroid lipofuscinosis 1
p.Gln116fs Single submitter neuronal ceroid lipofuscinosis 1
p.Gln177Ter Single submitter neuronal ceroid lipofuscinosis 1
p.Gln259Ter Single submitter neuronal ceroid lipofuscinosis 1
p.Gln25Ter Single submitter neuronal ceroid lipofuscinosis 1
p.Gln97Ter Single submitter neuronal ceroid lipofuscinosis 1
p.Glu178fs Single submitter neuronal ceroid lipofuscinosis 1
p.Gly113fs Single submitter neuronal ceroid lipofuscinosis 1
p.Gly145fs Single submitter neuronal ceroid lipofuscinosis 1
p.Ile205fs Single submitter neuronal ceroid lipofuscinosis 1
p.Ile62fs Single submitter neuronal ceroid lipofuscinosis 1
p.Leu35fs Single submitter neuronal ceroid lipofuscinosis 1
p.Leu9fs Single submitter neuronal ceroid lipofuscinosis 1
p.Met112fs Single submitter neuronal ceroid lipofuscinosis 1
p.Met1Lys Single submitter neuronal ceroid lipofuscinosis 1
p.Met57fs Single submitter neuronal ceroid lipofuscinosis 1
p.Phe147fs Single submitter neuronal ceroid lipofuscinosis 1
p.Pro238fs Single submitter neuronal ceroid lipofuscinosis 1
p.Ser241fs Single submitter neuronal ceroid lipofuscinosis 1
p.Ser241Ter Single submitter neuronal ceroid lipofuscinosis 1
p.Trp17Ter Single submitter neuronal ceroid lipofuscinosis 1
p.Trp243Ter Single submitter neuronal ceroid lipofuscinosis 1
p.Trp38fs Single submitter neuronal ceroid lipofuscinosis 1
p.Trp38Ter Single submitter neuronal ceroid lipofuscinosis
p.Tyr109Ter Single submitter neuronal ceroid lipofuscinosis 1
p.Tyr247Ter Single submitter neuronal ceroid lipofuscinosis 1
p.Val88fs Single submitter neuronal ceroid lipofuscinosis 1
p.Gly108Arg No assertion criteria neuronal ceroid lipofuscinosis 1
p.Leu219Gln No assertion criteria neuronal ceroid lipofuscinosis 1

Pathogenic/Likely pathogenic 26

c.628-2A>G Multiple submitters PPT1-related disorder
c.727-2A>T Multiple submitters neuronal ceroid lipofuscinosis 1
c.798+1G>T Multiple submitters neuronal ceroid lipofuscinosis 1
p.Arg151Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Asp79Gly Multiple submitters neuronal ceroid lipofuscinosis 1
p.Cys152fs Multiple submitters neuronal ceroid lipofuscinosis 1
p.Cys6Ter Multiple submitters neuronal ceroid lipofuscinosis 1
p.Gln142Ter Multiple submitters neuronal ceroid lipofuscinosis 1
p.Gln177Glu Multiple submitters neuronal ceroid lipofuscinosis 1
p.Gln291Ter Multiple submitters neuronal ceroid lipofuscinosis 1
p.Gln91Pro Multiple submitters neuronal ceroid lipofuscinosis
p.Glu184Lys Multiple submitters Inborn genetic diseases
p.Glu213Ter Multiple submitters neuronal ceroid lipofuscinosis 1
p.Gly270_Leu271insTer Multiple submitters neuronal ceroid lipofuscinosis 1
p.Leu10fs Multiple submitters neuronal ceroid lipofuscinosis 1
p.Leu15fs Multiple submitters neuronal ceroid lipofuscinosis 1
p.Leu222Pro Multiple submitters neuronal ceroid lipofuscinosis
p.Met133fs Multiple submitters PPT1-related disorder
p.Met1Ile Multiple submitters Inborn genetic diseases
p.Met1Thr Multiple submitters neuronal ceroid lipofuscinosis 1
p.Pro238Leu Multiple submitters neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
p.Ser138Leu Multiple submitters neuronal ceroid lipofuscinosis 1
p.Ser3fs Multiple submitters neuronal ceroid lipofuscinosis 1
p.Tyr109Asp Multiple submitters neuronal ceroid lipofuscinosis 1
p.Tyr247His Multiple submitters neuronal ceroid lipofuscinosis
p.Val181Leu Multiple submitters neuronal ceroid lipofuscinosis 1

Likely pathogenic 79

c.362+1G>A Multiple submitters neuronal ceroid lipofuscinosis 1
c.627+1G>T Multiple submitters neuronal ceroid lipofuscinosis 1
c.799del Multiple submitters neuronal ceroid lipofuscinosis 1
p.Glu178Val Multiple submitters neuronal ceroid lipofuscinosis 1
p.Gly118Asp Multiple submitters neuronal ceroid lipofuscinosis
p.Gly42Glu Multiple submitters neuronal ceroid lipofuscinosis
p.Phe85del Multiple submitters neuronal ceroid lipofuscinosis
p.Tyr109Cys Multiple submitters neuronal ceroid lipofuscinosis 1
p.Tyr247Cys Multiple submitters neuronal ceroid lipofuscinosis 1
p.Val236Glu Multiple submitters neuronal ceroid lipofuscinosis
c.125-15T>G Single submitter neuronal ceroid lipofuscinosis 1
c.234+2T>C Single submitter neuronal ceroid lipofuscinosis 1
c.234+2T>G Single submitter neuronal ceroid lipofuscinosis 1
c.235-1G>A Single submitter neuronal ceroid lipofuscinosis 1
c.235-1G>C Single submitter neuronal ceroid lipofuscinosis 1
c.235-2A>G Single submitter neuronal ceroid lipofuscinosis 1
c.363-2A>G Single submitter neuronal ceroid lipofuscinosis 1
c.434-1G>C Single submitter neuronal ceroid lipofuscinosis 1
c.536+1G>A Single submitter congenital nervous system disorder
c.628-1G>A Single submitter neuronal ceroid lipofuscinosis 1
c.628-2_642del Single submitter neuronal ceroid lipofuscinosis 1
c.726+2T>C Single submitter neuronal ceroid lipofuscinosis 1
c.726+2T>G Single submitter neuronal ceroid lipofuscinosis 1
c.799-2del Single submitter neuronal ceroid lipofuscinosis 1
p.Ala123fs Single submitter neuronal ceroid lipofuscinosis 1
p.Asn110Lys Single submitter neuronal ceroid lipofuscinosis 1
p.Asn218fs Single submitter neuronal ceroid lipofuscinosis 1
p.Asp43Asn Single submitter neuronal ceroid lipofuscinosis 1
p.Cys46Ter Single submitter PPT1-related disorder
p.Gln97fs Single submitter neuronal ceroid lipofuscinosis 1
p.Glu184Val Single submitter neuronal ceroid lipofuscinosis 1
p.Glu295fs Single submitter neuronal ceroid lipofuscinosis 1
p.Gly148Ter Single submitter neuronal ceroid lipofuscinosis 1
p.Gly73Ala Single submitter neuronal ceroid lipofuscinosis 1
p.Gly73Glu Single submitter neuronal ceroid lipofuscinosis 1
p.His187fs Single submitter neuronal ceroid lipofuscinosis 1
p.Ile211fs Single submitter neuronal ceroid lipofuscinosis 1
p.Leu222fs Single submitter neuronal ceroid lipofuscinosis 1
p.Leu49Ter Single submitter neuronal ceroid lipofuscinosis 1
p.Leu76fs Single submitter neuronal ceroid lipofuscinosis 1
p.Leu7fs Single submitter PPT1-related disorder
p.Met112Thr Single submitter neuronal ceroid lipofuscinosis 1
p.Met1Val Single submitter neuronal ceroid lipofuscinosis 1
p.Met227fs Single submitter neuronal ceroid lipofuscinosis 1
p.Met274fs Single submitter neuronal ceroid lipofuscinosis 1
p.Pro189_Ile190insTer Single submitter neuronal ceroid lipofuscinosis 1
p.Thr75Asn Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Tyr109Ser Single submitter neuronal ceroid lipofuscinosis 1
p.Tyr195Ter Single submitter neuronal ceroid lipofuscinosis 1
c.124+2T>A No assertion criteria neuronal ceroid lipofuscinosis 1
c.125-2A>G No assertion criteria neuronal ceroid lipofuscinosis 1
c.235-3T>C No assertion criteria neuronal ceroid lipofuscinosis 1
c.363-3T>G No assertion criteria neuronal ceroid lipofuscinosis 1
c.536+2T>C No assertion criteria neuronal ceroid lipofuscinosis 1
c.537-1G>A No assertion criteria neuronal ceroid lipofuscinosis 1
c.799-2A>G No assertion criteria neuronal ceroid lipofuscinosis 1
c.*526_*529del No assertion criteria neuronal ceroid lipofuscinosis 1
p.Cys152Ter No assertion criteria neuronal ceroid lipofuscinosis 1
p.Cys152Tyr No assertion criteria neuronal ceroid lipofuscinosis 1
p.Cys46dup No assertion criteria neuronal ceroid lipofuscinosis 1
p.Gln182Ter No assertion criteria neuronal ceroid lipofuscinosis 1
p.Gln259fs No assertion criteria neuronal ceroid lipofuscinosis 1
p.Gln279Ter No assertion criteria neuronal ceroid lipofuscinosis 1
p.Gln91_Cys96delinsPhe No assertion criteria neuronal ceroid lipofuscinosis 1
p.Gly250Val No assertion criteria neuronal ceroid lipofuscinosis 1
p.His158fs No assertion criteria neuronal ceroid lipofuscinosis 1
p.His187Arg No assertion criteria neuronal ceroid lipofuscinosis 1 ⚠
p.His39Gln No assertion criteria neuronal ceroid lipofuscinosis 1
p.Leu180fs No assertion criteria neuronal ceroid lipofuscinosis 1
p.Leu305Pro No assertion criteria neuronal ceroid lipofuscinosis 1
p.Lys104Ter No assertion criteria neuronal ceroid lipofuscinosis 1
p.Pro189Arg No assertion criteria neuronal ceroid lipofuscinosis 1
p.Ser3Ter No assertion criteria neuronal ceroid lipofuscinosis 1
p.Thr94fs No assertion criteria neuronal ceroid lipofuscinosis 1
p.Trp17fs No assertion criteria neuronal ceroid lipofuscinosis 1
p.Trp186Ter No assertion criteria neuronal ceroid lipofuscinosis 1
p.Trp296Arg No assertion criteria neuronal ceroid lipofuscinosis 1
p.Tyr215fs No assertion criteria neuronal ceroid lipofuscinosis 1
p.Val228Gly No assertion criteria neuronal ceroid lipofuscinosis 1

Conflicting classifications of pathogenicity 29

c.234+6G>A Single submitter neuronal ceroid lipofuscinosis 1
c.234+7C>T Single submitter neuronal ceroid lipofuscinosis 1
c.234+8G>A Single submitter neuronal ceroid lipofuscinosis 1
c.362+4C>T Single submitter neuronal ceroid lipofuscinosis 1
c.362+5G>A Single submitter neuronal ceroid lipofuscinosis 1
c.363-5C>T Single submitter Inborn genetic diseases
c.537-12T>C Single submitter neuronal ceroid lipofuscinosis 1
c.727-10T>G Single submitter neuronal ceroid lipofuscinosis 1
c.*3C>A Single submitter Inborn genetic diseases
c.*6G>A Single submitter neuronal ceroid lipofuscinosis 1
c.*708A>C Single submitter neuronal ceroid lipofuscinosis 1
p.Ala123Thr Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Arg179Cys Single submitter Inborn genetic diseases ⚠
p.Asn110Ser Single submitter Inborn genetic diseases ⚠
p.Cys96Arg Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Cys96Tyr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly145Arg Single submitter Inborn genetic diseases ⚠
p.Gly145Ser Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Gly250Asp Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Gly250Ser Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Ile235= Single submitter neuronal ceroid lipofuscinosis 1
p.Ile302Val Single submitter Inborn genetic diseases ⚠
p.Lys104Glu Single submitter Inborn genetic diseases ⚠
p.Phe225Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Phe230= Single submitter neuronal ceroid lipofuscinosis 1
p.Ser241Leu Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Trp296Ter Single submitter neuronal ceroid lipofuscinosis 1
p.Trp38Cys Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Tyr298= Single submitter neuronal ceroid lipofuscinosis 1

Benign 40

c.124+18T>G Multiple submitters neuronal ceroid lipofuscinosis 1
c.124+336C>T Multiple submitters
c.125-77G>C Multiple submitters neuronal ceroid lipofuscinosis 1
c.362+61C>T Multiple submitters neuronal ceroid lipofuscinosis 1
c.433+59T>A Multiple submitters
c.433+79A>G Multiple submitters neuronal ceroid lipofuscinosis 1
c.434-137G>A Multiple submitters
c.434-90G>C Multiple submitters neuronal ceroid lipofuscinosis 1
c.536+25T>C Multiple submitters
c.536+40G>A Multiple submitters
c.537-50G>A Multiple submitters neuronal ceroid lipofuscinosis 1
c.627+105A>C Multiple submitters neuronal ceroid lipofuscinosis 1
c.-109C>A Multiple submitters neuronal ceroid lipofuscinosis 1
c.-83A>G Multiple submitters neuronal ceroid lipofuscinosis 1
c.*1275G>A Multiple submitters neuronal ceroid lipofuscinosis 1
c.*161T>C Multiple submitters neuronal ceroid lipofuscinosis 1
c.*285T>G Multiple submitters neuronal ceroid lipofuscinosis 1
c.*505C>G Multiple submitters neuronal ceroid lipofuscinosis 1
c.*657G>A Multiple submitters neuronal ceroid lipofuscinosis 1
c.*878T>C Multiple submitters neuronal ceroid lipofuscinosis 1
p.Gln279His Multiple submitters Inborn genetic diseases
p.Ile134Thr Multiple submitters Inborn genetic diseases
c.124+280GCA[3] Single submitter
c.125-166A>T Single submitter
c.125-188_125-185del Single submitter
c.125-281_125-280insTTTCACATGCT Single submitter
c.125-332T>C Single submitter
c.235-20C>A Single submitter
c.362+141T>G Single submitter
c.362+179del Single submitter
c.434-215G>A Single submitter
c.536+246C>T Single submitter
c.537-8del Single submitter neuronal ceroid lipofuscinosis 1
c.627+16G>A Single submitter neuronal ceroid lipofuscinosis 1
c.628-172dup Single submitter
c.799-247C>G Single submitter
c.799-300AAGA[2] Single submitter
c.799-330C>A Single submitter
c.-29C>G Single submitter
p.Asp28Gly Single submitter neuronal ceroid lipofuscinosis 1

Benign/Likely benign 13

c.363-18C>G Multiple submitters neuronal ceroid lipofuscinosis 1
c.363-19A>G Multiple submitters neuronal ceroid lipofuscinosis 1
c.363-4G>A Multiple submitters Inborn genetic diseases
c.537-16dup Multiple submitters neuronal ceroid lipofuscinosis 1
c.537-4A>G Multiple submitters neuronal ceroid lipofuscinosis 1
c.627+4A>G Multiple submitters Inborn genetic diseases
c.798+19A>G Multiple submitters neuronal ceroid lipofuscinosis 1
c.798+8G>A Multiple submitters neuronal ceroid lipofuscinosis 1
c.799-19A>C Multiple submitters neuronal ceroid lipofuscinosis 1
c.*12T>C Multiple submitters
c.*456A>G Multiple submitters neuronal ceroid lipofuscinosis 1
c.*526_*529dup Multiple submitters neuronal ceroid lipofuscinosis 1
p.Cys6= Multiple submitters neuronal ceroid lipofuscinosis 1

Likely benign 259

c.125-5G>A Multiple submitters neuronal ceroid lipofuscinosis 1
c.125-9G>A Multiple submitters neuronal ceroid lipofuscinosis 1
c.234+18T>C Multiple submitters neuronal ceroid lipofuscinosis 1
c.235-18C>T Multiple submitters neuronal ceroid lipofuscinosis 1
c.362+19T>C Multiple submitters neuronal ceroid lipofuscinosis 1
c.363-18C>T Multiple submitters neuronal ceroid lipofuscinosis 1
c.433+11C>T Multiple submitters neuronal ceroid lipofuscinosis 1
c.433+7_433+8del Multiple submitters neuronal ceroid lipofuscinosis 1
c.536+10G>A Multiple submitters neuronal ceroid lipofuscinosis 1
c.627+15C>T Multiple submitters neuronal ceroid lipofuscinosis 1
c.627+8C>T Multiple submitters neuronal ceroid lipofuscinosis 1
c.628-8T>C Multiple submitters neuronal ceroid lipofuscinosis 1
c.726+9C>T Multiple submitters neuronal ceroid lipofuscinosis 1
c.-201G>A Multiple submitters neuronal ceroid lipofuscinosis 1
p.Ala123= Multiple submitters neuronal ceroid lipofuscinosis 1
p.Asn47= Multiple submitters neuronal ceroid lipofuscinosis 1
p.Asp79= Multiple submitters neuronal ceroid lipofuscinosis 1
p.Cys96= Multiple submitters neuronal ceroid lipofuscinosis 1
p.Glu213= Multiple submitters neuronal ceroid lipofuscinosis 1
p.Glu59= Multiple submitters neuronal ceroid lipofuscinosis 1
p.Gly145= Multiple submitters neuronal ceroid lipofuscinosis 1
p.His158= Multiple submitters neuronal ceroid lipofuscinosis 1
p.His300= Multiple submitters Inborn genetic diseases
p.Leu219= Multiple submitters neuronal ceroid lipofuscinosis 1
p.Leu7= Multiple submitters neuronal ceroid lipofuscinosis 1
p.Leu9= Multiple submitters neuronal ceroid lipofuscinosis 1
p.Pro63= Multiple submitters Inborn genetic diseases
p.Ser293= Multiple submitters neuronal ceroid lipofuscinosis 1
p.Thr18= Multiple submitters neuronal ceroid lipofuscinosis 1
p.Tyr66= Multiple submitters neuronal ceroid lipofuscinosis 1
p.Val181= Multiple submitters neuronal ceroid lipofuscinosis 1
p.Val58= Multiple submitters neuronal ceroid lipofuscinosis 1
c.124+12A>G Single submitter neuronal ceroid lipofuscinosis 1
c.124+14A>G Single submitter neuronal ceroid lipofuscinosis 1
c.124+2TGAG[2] Single submitter neuronal ceroid lipofuscinosis 1
c.124+325T>C Single submitter
c.124+7G>T Single submitter neuronal ceroid lipofuscinosis 1
c.124+9G>C Single submitter neuronal ceroid lipofuscinosis 1
c.125-14G>A Single submitter neuronal ceroid lipofuscinosis 1
c.125-18T>C Single submitter neuronal ceroid lipofuscinosis 1
c.125-19A>G Single submitter neuronal ceroid lipofuscinosis 1
c.125-22A>G Single submitter
c.125-33C>T Single submitter
c.125-6G>C Single submitter neuronal ceroid lipofuscinosis 1
c.234+10T>A Single submitter neuronal ceroid lipofuscinosis 1
c.234+13A>G Single submitter neuronal ceroid lipofuscinosis 1
c.234+14C>T Single submitter neuronal ceroid lipofuscinosis 1
c.234+7C>A Single submitter neuronal ceroid lipofuscinosis 1
c.234+7C>G Single submitter neuronal ceroid lipofuscinosis 1
c.234+8G>C Single submitter neuronal ceroid lipofuscinosis 1
c.234+8G>T Single submitter neuronal ceroid lipofuscinosis 1
c.235-20C>T Single submitter neuronal ceroid lipofuscinosis 1
c.235-5T>C Single submitter neuronal ceroid lipofuscinosis 1
c.235-6T>C Single submitter neuronal ceroid lipofuscinosis 1
c.235-7T>G Single submitter neuronal ceroid lipofuscinosis 1
c.235-8T>G Single submitter neuronal ceroid lipofuscinosis 1
c.235-9C>A Single submitter neuronal ceroid lipofuscinosis 1
c.362+10T>A Single submitter neuronal ceroid lipofuscinosis 1
c.362+11T>A Single submitter
c.362+11T>C Single submitter neuronal ceroid lipofuscinosis 1
c.362+164dup Single submitter
c.362+18A>G Single submitter neuronal ceroid lipofuscinosis 1
c.362+18A>T Single submitter
c.362+18dup Single submitter neuronal ceroid lipofuscinosis 1
c.362+19T>A Single submitter neuronal ceroid lipofuscinosis 1
c.362+20A>G Single submitter neuronal ceroid lipofuscinosis 1
c.362+8C>T Single submitter neuronal ceroid lipofuscinosis 1
c.362+9C>G Single submitter neuronal ceroid lipofuscinosis 1
c.362+9C>T Single submitter neuronal ceroid lipofuscinosis 1
c.363-106C>T Single submitter
c.363-15C>T Single submitter neuronal ceroid lipofuscinosis 1
c.363-232T>G Single submitter
c.363-4G>C Single submitter neuronal ceroid lipofuscinosis 1
c.363-4G>T Single submitter neuronal ceroid lipofuscinosis 1
c.433+10C>T Single submitter neuronal ceroid lipofuscinosis 1
c.433+13C>T Single submitter neuronal ceroid lipofuscinosis 1
c.433+14T>C Single submitter neuronal ceroid lipofuscinosis 1
c.433+15_433+16del Single submitter neuronal ceroid lipofuscinosis 1
c.433+17G>C Single submitter neuronal ceroid lipofuscinosis 1
c.433+3A>G Single submitter
c.433+5C>G Single submitter
c.433+9G>A Single submitter neuronal ceroid lipofuscinosis 1
c.433+9G>C Single submitter neuronal ceroid lipofuscinosis 1
c.434-10A>C Single submitter neuronal ceroid lipofuscinosis 1
c.434-10A>G Single submitter neuronal ceroid lipofuscinosis 1
c.434-12C>T Single submitter neuronal ceroid lipofuscinosis 1
c.434-14A>G Single submitter neuronal ceroid lipofuscinosis 1
c.434-290T>G Single submitter
c.434-7A>G Single submitter neuronal ceroid lipofuscinosis 1
c.536+18A>C Single submitter neuronal ceroid lipofuscinosis 1
c.536+20A>G Single submitter neuronal ceroid lipofuscinosis 1
c.536+7A>G Single submitter neuronal ceroid lipofuscinosis 1
c.536+8T>C Single submitter neuronal ceroid lipofuscinosis 1
c.536+8T>G Single submitter neuronal ceroid lipofuscinosis 1
c.537-12T>G Single submitter neuronal ceroid lipofuscinosis 1
c.537-13T>C Single submitter neuronal ceroid lipofuscinosis 1
c.537-15T>C Single submitter neuronal ceroid lipofuscinosis 1
c.537-15T>G Single submitter neuronal ceroid lipofuscinosis 1
c.537-16_537-10dup Single submitter
c.537-17C>G Single submitter neuronal ceroid lipofuscinosis 1
c.537-248C>T Single submitter
c.537-253C>T Single submitter
c.537-8T>A Single submitter neuronal ceroid lipofuscinosis 1
c.537-8T>C Single submitter neuronal ceroid lipofuscinosis 1
c.537-8T>G Single submitter neuronal ceroid lipofuscinosis 1
c.537-9T>C Single submitter neuronal ceroid lipofuscinosis 1
c.627+10C>G Single submitter neuronal ceroid lipofuscinosis 1
c.627+12A>T Single submitter neuronal ceroid lipofuscinosis 1
c.627+15C>G Single submitter neuronal ceroid lipofuscinosis 1
c.627+16G>C Single submitter neuronal ceroid lipofuscinosis 1
c.627+18del Single submitter neuronal ceroid lipofuscinosis 1
c.627+9C>T Single submitter neuronal ceroid lipofuscinosis 1
c.628-10T>C Single submitter neuronal ceroid lipofuscinosis 1
c.628-11C>A Single submitter neuronal ceroid lipofuscinosis 1
c.628-15_628-12del Single submitter neuronal ceroid lipofuscinosis 1
c.628-15T>G Single submitter neuronal ceroid lipofuscinosis 1
c.628-163del Single submitter
c.628-19T>A Single submitter neuronal ceroid lipofuscinosis 1
c.628-3dup Single submitter neuronal ceroid lipofuscinosis 1
c.628-5T>G Single submitter neuronal ceroid lipofuscinosis 1
c.628-9_628-8delinsGC Single submitter neuronal ceroid lipofuscinosis 1
c.726+12C>G Single submitter neuronal ceroid lipofuscinosis 1
c.726+12C>T Single submitter
c.726+13T>C Single submitter neuronal ceroid lipofuscinosis 1
c.726+17G>A Single submitter neuronal ceroid lipofuscinosis 1
c.726+18C>T Single submitter neuronal ceroid lipofuscinosis 1
c.726+19C>T Single submitter neuronal ceroid lipofuscinosis 1
c.726+8A>G Single submitter neuronal ceroid lipofuscinosis 1
c.726+9C>G Single submitter neuronal ceroid lipofuscinosis 1
c.727-11_727-3del Single submitter neuronal ceroid lipofuscinosis 1
c.727-17C>T Single submitter neuronal ceroid lipofuscinosis 1
c.727-18C>G Single submitter neuronal ceroid lipofuscinosis 1
c.798+12G>A Single submitter neuronal ceroid lipofuscinosis 1
c.798+13del Single submitter neuronal ceroid lipofuscinosis 1
c.798+14A>G Single submitter neuronal ceroid lipofuscinosis 1
c.798+16T>G Single submitter
c.798+224A>G Single submitter
c.798+7_798+22del Single submitter neuronal ceroid lipofuscinosis 1
c.799-11T>G Single submitter neuronal ceroid lipofuscinosis 1
c.799-12T>C Single submitter neuronal ceroid lipofuscinosis 1
c.799-13T>A Single submitter neuronal ceroid lipofuscinosis 1
c.799-16G>C Single submitter neuronal ceroid lipofuscinosis 1
c.799-17G>T Single submitter
c.799-18T>C Single submitter neuronal ceroid lipofuscinosis 1
c.799-193GAAA[2] Single submitter
c.799-19A>G Single submitter neuronal ceroid lipofuscinosis 1
c.799-22_799-19del Single submitter neuronal ceroid lipofuscinosis 1
c.799-288_799-287del Single submitter
c.799-290_799-287del Single submitter
c.799-4G>A Single submitter neuronal ceroid lipofuscinosis 1
c.799-6C>G Single submitter neuronal ceroid lipofuscinosis 1
c.799-7T>C Single submitter neuronal ceroid lipofuscinosis 1
c.799-8T>C Single submitter neuronal ceroid lipofuscinosis 1
c.799-9C>A Single submitter neuronal ceroid lipofuscinosis 1
c.799-9C>T Single submitter neuronal ceroid lipofuscinosis 1
c.*1061C>T Single submitter neuronal ceroid lipofuscinosis 1
c.*1154T>C Single submitter neuronal ceroid lipofuscinosis 1
c.*901C>T Single submitter neuronal ceroid lipofuscinosis 1
p.Ala169= Single submitter neuronal ceroid lipofuscinosis 1
p.Ala171= Single submitter neuronal ceroid lipofuscinosis 1
p.Ala183= Single submitter neuronal ceroid lipofuscinosis 1
p.Ala2= Single submitter neuronal ceroid lipofuscinosis 1
p.Ala20= Single submitter neuronal ceroid lipofuscinosis 1
p.Ala299= Single submitter neuronal ceroid lipofuscinosis 1
p.Ala53= Single submitter neuronal ceroid lipofuscinosis 1
p.Arg164= Single submitter neuronal ceroid lipofuscinosis 1
p.Arg196= Single submitter neuronal ceroid lipofuscinosis 1
p.Arg248= Single submitter neuronal ceroid lipofuscinosis 1
p.Asn218= Single submitter neuronal ceroid lipofuscinosis 1
p.Asn232= Single submitter neuronal ceroid lipofuscinosis 1
p.Asn276= Single submitter neuronal ceroid lipofuscinosis 1
p.Asn87= Single submitter neuronal ceroid lipofuscinosis 1
p.Asn89= Single submitter neuronal ceroid lipofuscinosis 1
p.Asp193= Single submitter neuronal ceroid lipofuscinosis 1
p.Asp237= Single submitter neuronal ceroid lipofuscinosis 1
p.Cys128= Single submitter neuronal ceroid lipofuscinosis 1
p.Cys152= Single submitter neuronal ceroid lipofuscinosis 1
p.Cys160= Single submitter neuronal ceroid lipofuscinosis 1
p.Cys19= Single submitter neuronal ceroid lipofuscinosis 1
p.Cys46= Single submitter neuronal ceroid lipofuscinosis 1
p.Gln126= Single submitter neuronal ceroid lipofuscinosis 1
p.Gln142= Single submitter neuronal ceroid lipofuscinosis 1
p.Gln291= Single submitter neuronal ceroid lipofuscinosis 1
p.Glu178= Single submitter neuronal ceroid lipofuscinosis 1
p.Glu273= Single submitter neuronal ceroid lipofuscinosis 1
p.Glu295= Single submitter neuronal ceroid lipofuscinosis 1
p.Glu71= Single submitter neuronal ceroid lipofuscinosis 1
p.Gly148= Single submitter neuronal ceroid lipofuscinosis 1
p.Gly210= Single submitter neuronal ceroid lipofuscinosis 1
p.Gly250= Single submitter neuronal ceroid lipofuscinosis 1
p.Gly270= Single submitter neuronal ceroid lipofuscinosis 1
p.Gly287= Single submitter neuronal ceroid lipofuscinosis 1
p.Gly40= Single submitter neuronal ceroid lipofuscinosis 1
p.Gly5= Single submitter neuronal ceroid lipofuscinosis 1
p.Gly73= Single submitter neuronal ceroid lipofuscinosis 1
p.His198= Single submitter neuronal ceroid lipofuscinosis 1
p.Ile137= Single submitter neuronal ceroid lipofuscinosis 1
p.Ile163= Single submitter neuronal ceroid lipofuscinosis 1
p.Ile200= Single submitter neuronal ceroid lipofuscinosis 1
p.Ile65= Single submitter Inborn genetic diseases
p.Ile72= Single submitter neuronal ceroid lipofuscinosis 1
p.Leu14= Single submitter neuronal ceroid lipofuscinosis 1
p.Leu149= Single submitter neuronal ceroid lipofuscinosis 1
p.Leu15= Single submitter neuronal ceroid lipofuscinosis 1
p.Leu167= Single submitter neuronal ceroid lipofuscinosis 1
p.Leu180= Single submitter neuronal ceroid lipofuscinosis 1
p.Leu202= Single submitter neuronal ceroid lipofuscinosis 1
p.Leu231= Single submitter neuronal ceroid lipofuscinosis 1
p.Leu24= Single submitter neuronal ceroid lipofuscinosis 1
p.Leu27= Single submitter neuronal ceroid lipofuscinosis 1
p.Leu271= Single submitter neuronal ceroid lipofuscinosis 1
p.Leu280= Single submitter neuronal ceroid lipofuscinosis 1
p.Leu283= Single submitter neuronal ceroid lipofuscinosis 1
p.Leu290= Single submitter neuronal ceroid lipofuscinosis 1
p.Leu33= Single submitter neuronal ceroid lipofuscinosis 1
p.Leu49= Single submitter neuronal ceroid lipofuscinosis 1
p.Leu68= Single submitter neuronal ceroid lipofuscinosis 1
p.Leu76= Single submitter neuronal ceroid lipofuscinosis 1
p.Leu86= Single submitter neuronal ceroid lipofuscinosis 1
p.Lys217= Single submitter neuronal ceroid lipofuscinosis 1
p.Lys223= Single submitter neuronal ceroid lipofuscinosis 1
p.Lys61= Single submitter neuronal ceroid lipofuscinosis 1
p.Phe147= Single submitter neuronal ceroid lipofuscinosis 1
p.Phe244= Single submitter neuronal ceroid lipofuscinosis 1
p.Phe85= Single submitter neuronal ceroid lipofuscinosis 1
p.Pro103= Single submitter neuronal ceroid lipofuscinosis 1
p.Pro131= Single submitter neuronal ceroid lipofuscinosis 1
p.Pro153= Single submitter neuronal ceroid lipofuscinosis 1
p.Pro16= Single submitter neuronal ceroid lipofuscinosis 1
p.Pro257= Single submitter neuronal ceroid lipofuscinosis 1
p.Pro303= Single submitter neuronal ceroid lipofuscinosis 1
p.Pro34= Single submitter neuronal ceroid lipofuscinosis 1
p.Pro4= Single submitter neuronal ceroid lipofuscinosis 1
p.Pro48= Single submitter neuronal ceroid lipofuscinosis 1
p.Ser130= Single submitter
p.Ser138= Single submitter neuronal ceroid lipofuscinosis 1
p.Ser21= Single submitter neuronal ceroid lipofuscinosis 1
p.Ser234= Single submitter neuronal ceroid lipofuscinosis 1
p.Ser241= Single submitter neuronal ceroid lipofuscinosis 1
p.Ser3= Single submitter neuronal ceroid lipofuscinosis 1
p.Ser50= Single submitter neuronal ceroid lipofuscinosis 1
p.Ser90= Single submitter neuronal ceroid lipofuscinosis 1
p.Thr166= Single submitter neuronal ceroid lipofuscinosis 1
p.Thr75= Single submitter neuronal ceroid lipofuscinosis 1
p.Thr94= Single submitter neuronal ceroid lipofuscinosis 1
p.Tyr185= Single submitter neuronal ceroid lipofuscinosis 1
p.Tyr215= Single submitter neuronal ceroid lipofuscinosis 1
p.Tyr247= Single submitter neuronal ceroid lipofuscinosis 1
p.Val12= Single submitter neuronal ceroid lipofuscinosis 1
p.Val194= Single submitter neuronal ceroid lipofuscinosis 1
p.Val226= Single submitter neuronal ceroid lipofuscinosis 1
p.Val239= Single submitter neuronal ceroid lipofuscinosis 1
p.Val281= Single submitter neuronal ceroid lipofuscinosis 1
p.Val36= Single submitter neuronal ceroid lipofuscinosis 1
p.Val88= Single submitter neuronal ceroid lipofuscinosis 1
p.Val92= Single submitter neuronal ceroid lipofuscinosis 1
p.Val95= Single submitter neuronal ceroid lipofuscinosis 1
c.536+6T>G No assertion criteria PPT1-related disorder
p.Ala11= No assertion criteria neuronal ceroid lipofuscinosis 1

Uncertain significance 224

c.124+6T>C Multiple submitters Inborn genetic diseases
c.*388G>C Multiple submitters neuronal ceroid lipofuscinosis 1
c.*969A>G Multiple submitters neuronal ceroid lipofuscinosis 1
p.Ala13Gly Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.Ala171Val Multiple submitters Inborn genetic diseases ⚠
p.Ala277Val Multiple submitters Inborn genetic diseases ⚠
p.Ala98Glu Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.Arg151Gln Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.Arg164Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg179His Multiple submitters Inborn genetic diseases ⚠
p.Arg196Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg196His Multiple submitters Inborn genetic diseases ⚠
p.Arg268Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg268His Multiple submitters Inborn genetic diseases ⚠
p.Asn110Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn135Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn212Asp Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.Asn212Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp188Glu Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.Asp240Asn Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.Asp275Val Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.Cys6Phe Multiple submitters Inborn genetic diseases ⚠
p.Cys6Ser Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.Cys6Tyr Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.Gln106Arg Multiple submitters Inborn genetic diseases ⚠
p.Glu254Asp Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.Glu286Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly210Arg Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.Gly5Ala Multiple submitters Inborn genetic diseases ⚠
p.His143Arg Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.His158Gln Multiple submitters Inborn genetic diseases ⚠
p.His158Tyr Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.Ile302Met Multiple submitters Inborn genetic diseases ⚠
p.Leu149Ile Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.Leu14Phe Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.Leu292Ser Multiple submitters Inborn genetic diseases ⚠
p.Leu7Met Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.Lys216Arg Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.Lys216Gln Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.Met57Lys Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.Phe147Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro257Thr Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.Pro29Gln Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.Ser21Phe Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.Ser293Phe Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.Ser3Leu Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.Tyr195His Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.Val139Ala Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.Val226Met Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
p.Val67Ile Multiple submitters neuronal ceroid lipofuscinosis 1 ⚠
c.124+7G>A Single submitter neuronal ceroid lipofuscinosis 1
c.125-3T>C Single submitter neuronal ceroid lipofuscinosis 1
c.363-5C>G Single submitter neuronal ceroid lipofuscinosis 1
c.433+5C>A Single submitter neuronal ceroid lipofuscinosis 1
c.536+5G>T Single submitter neuronal ceroid lipofuscinosis 1
c.537-3C>T Single submitter neuronal ceroid lipofuscinosis 1
c.798+3A>G Single submitter neuronal ceroid lipofuscinosis 1
c.-10C>T Single submitter neuronal ceroid lipofuscinosis 1
c.-158C>T Single submitter neuronal ceroid lipofuscinosis 1
c.-73G>C Single submitter neuronal ceroid lipofuscinosis 1
c.*1019C>T Single submitter neuronal ceroid lipofuscinosis 1
c.*1062G>A Single submitter neuronal ceroid lipofuscinosis 1
c.*1088G>A Single submitter neuronal ceroid lipofuscinosis 1
c.*127A>T Single submitter neuronal ceroid lipofuscinosis 1
c.*1295G>C Single submitter neuronal ceroid lipofuscinosis 1
c.*252C>T Single submitter neuronal ceroid lipofuscinosis 1
c.*340T>G Single submitter neuronal ceroid lipofuscinosis 1
c.*353C>T Single submitter neuronal ceroid lipofuscinosis 1
c.*470T>C Single submitter neuronal ceroid lipofuscinosis 1
c.*484C>T Single submitter neuronal ceroid lipofuscinosis 1
c.*568A>G Single submitter neuronal ceroid lipofuscinosis 1
c.*583G>A Single submitter neuronal ceroid lipofuscinosis 1
c.*679C>A Single submitter neuronal ceroid lipofuscinosis 1
c.*701G>A Single submitter neuronal ceroid lipofuscinosis 1
c.*709T>C Single submitter neuronal ceroid lipofuscinosis 1
c.*727A>C Single submitter neuronal ceroid lipofuscinosis 1
c.*781A>T Single submitter neuronal ceroid lipofuscinosis 1
c.*802C>T Single submitter neuronal ceroid lipofuscinosis 1
c.*811A>G Single submitter neuronal ceroid lipofuscinosis 1
c.*90C>G Single submitter neuronal ceroid lipofuscinosis 1
c.*910C>T Single submitter neuronal ceroid lipofuscinosis 1
c.*914A>G Single submitter neuronal ceroid lipofuscinosis 1
c.*991T>C Single submitter neuronal ceroid lipofuscinosis 1
p.Ala11Asp Single submitter neuronal ceroid lipofuscinosis 1
p.Ala169Ser Single submitter ⚠
p.Ala171Pro Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Ala183Val Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Ala203Thr Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Ala20Val Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Ala221Val Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Ala23Thr Single submitter Inborn genetic diseases ⚠
p.Ala284Pro Single submitter neuronal ceroid lipofuscinosis 1
p.Ala299Val Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Ala2Gly Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Ala2Val Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Ala98Val Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Arg151Gly Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Arg209Gln Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Arg22Pro Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Arg22Trp Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Arg268Ser Single submitter Inborn genetic diseases ⚠
p.Asn212Tyr Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Asn232Lys Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Asn232Ser Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Asn82Lys Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Asn87Ser Single submitter Inborn genetic diseases ⚠
p.Asn89Asp Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Asp237Val Single submitter Inborn genetic diseases ⚠
p.Asp288Asn Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Asp28Glu Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Asp79Glu Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Cys19Ser Single submitter neuronal ceroid lipofuscinosis 1
p.Cys19Trp Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Cys45Arg Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Gln116Arg Single submitter ⚠
p.Gln144Glu Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Gln251Pro Single submitter Inborn genetic diseases ⚠
p.Gln91Glu Single submitter ⚠
p.Glu192Lys Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Glu273Lys Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Glu59Lys Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Glu78Ala Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Glu78Gly Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Glu81Lys Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Gly141Glu Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Gly148Glu Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Gly148Val Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Gly170Glu Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Gly210Ser Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Gly210Val Single submitter Inborn genetic diseases ⚠
p.Gly245Arg Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Gly278Arg Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Gly306Arg Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Gly40Arg Single submitter Inborn genetic diseases ⚠
p.Gly42Arg Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Gly52Ala Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Gly52Asp Single submitter ⚠
p.Gly64Arg Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Gly64Glu Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.His143Leu Single submitter Inborn genetic diseases ⚠
p.His300Pro Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.His39_Gly40del Single submitter neuronal ceroid lipofuscinosis 1
p.Ile134Ser Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Ile137Thr Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Ile235Thr Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Ile301Asn Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Ile302Thr Single submitter Inborn genetic diseases ⚠
p.Ile62Leu Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Leu121= Single submitter neuronal ceroid lipofuscinosis 1
p.Leu14Val Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Leu231Arg Single submitter ⚠
p.Leu24Pro Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Leu305Arg Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Leu305Ile Single submitter Inborn genetic diseases ⚠
p.Leu33Gln Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Leu49Phe Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Leu9Phe Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Leu9Pro Single submitter Inborn genetic diseases ⚠
p.Lys101Glu Single submitter ⚠
p.Lys174Arg Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Lys174Glu Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Lys191Thr Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Lys216Glu Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Lys56Ile Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Lys61Arg Single submitter Inborn genetic diseases ⚠
p.Met112Leu Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Met112Val Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Met274Ile Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Met57Thr Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Met77Val Single submitter ⚠
p.Phe114Ser Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Phe297Leu Single submitter Inborn genetic diseases ⚠
p.Phe304Leu Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Pro129Leu Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Pro153Ala Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Pro189Leu Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Pro257Leu Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Pro303Leu Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Pro30Arg Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Pro30Leu Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Pro48Leu Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Pro4Ser Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Ser156Asn Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Ser157Cys Single submitter ⚠
p.Ser173Phe Single submitter neuronal ceroid lipofuscinosis 1
p.Ser249Cys Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Ser293Pro Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Ter307Leu Single submitter
p.Thr265= Single submitter
p.Thr265Arg Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Thr93Ala Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Trp17Arg Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Trp17Gly Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Trp38Ser Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Tyr185His Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Tyr195Asp Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Tyr215Cys Single submitter ⚠
p.Tyr66Cys Single submitter ⚠
p.Val12Ala Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Val80Gly Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Val80Met Single submitter neuronal ceroid lipofuscinosis 1 ⚠
p.Val95Met Single submitter neuronal ceroid lipofuscinosis 1 ⚠
c.536+5G>A No assertion criteria neuronal ceroid lipofuscinosis 1
c.726+3G>T No assertion criteria
c.-4G>A No assertion criteria neuronal ceroid lipofuscinosis 1
c.*521_*532dup No assertion criteria neuronal ceroid lipofuscinosis 1
c.*529_*530insAGCA No assertion criteria neuronal ceroid lipofuscinosis 1
c.*529_*530insATCG No assertion criteria neuronal ceroid lipofuscinosis 1
c.*529_*530insGTCA No assertion criteria neuronal ceroid lipofuscinosis 1
p.Asn218Lys No assertion criteria neuronal ceroid lipofuscinosis 1 ⚠
p.Glu59del No assertion criteria neuronal ceroid lipofuscinosis 1
p.Gly117= No assertion criteria neuronal ceroid lipofuscinosis 1
p.His26Gln No assertion criteria neuronal ceroid lipofuscinosis 1 ⚠
p.Leu10Phe No assertion criteria neuronal ceroid lipofuscinosis 1 ⚠
p.Leu263= No assertion criteria neuronal ceroid lipofuscinosis 1
p.Leu68Ser No assertion criteria neuronal ceroid lipofuscinosis 1 ⚠
p.Lys165Glu No assertion criteria neuronal ceroid lipofuscinosis 1 ⚠
p.Lys56Arg No assertion criteria neuronal ceroid lipofuscinosis 1 ⚠
p.Ser44= No assertion criteria neuronal ceroid lipofuscinosis 1
p.Ser50Gly No assertion criteria neuronal ceroid lipofuscinosis 1 ⚠
p.Thr166Ala No assertion criteria neuronal ceroid lipofuscinosis 1 ⚠
p.Thr18Ser No assertion criteria neuronal ceroid lipofuscinosis 1 ⚠
p.Thr261= No assertion criteria neuronal ceroid lipofuscinosis 1
p.Val175Ala No assertion criteria neuronal ceroid lipofuscinosis 1 ⚠