CLN5 — 596 ClinVar variants

All ClinVar germline CLN5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 184 flagged for review →

52 Pathogenic · 28 Pathogenic/Likely pathogenic · 53 Likely pathogenic · 32 Conflicting · 15 Benign · 13 Benign/Likely benign · 188 Likely benign · 215 Uncertain significance

Full CLN5 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 agree, ClinVar conflicts 9

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

CLN5 p.Arg63Cys Conflicting Single submitter
Inborn genetic diseases
CLN5 p.Asn190Ser Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Asn193Lys Conflicting Single submitter
Inborn genetic diseases
CLN5 p.Cys159Arg Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Pro156Ser Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Trp158Arg Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Trp26Arg Conflicting Single submitter
Inborn genetic diseases
CLN5 p.Trp330Cys Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Tyr325Cys Conflicting Single submitter
neuronal ceroid lipofuscinosis

Predictors lean, ClinVar uncertain 84

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

CLN5 p.Ala11Ser Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Arg258Lys Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Arg51Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CLN5 p.Arg59Cys Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Asn213His Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Asn255Lys Uncertain significance Multiple submitters
CLN5 p.Asn255Thr Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Asp89Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CLN5 p.Gln310Glu Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Gln320Glu Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Ile350Val Uncertain significance Multiple submitters
Inborn genetic diseases
CLN5 p.Leu149Pro Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Met133Arg Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Met153Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CLN5 p.Met191Thr Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Pro349Ser Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Thr273Ile Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Thr7Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CLN5 p.Val182Ile Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Ala196Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Ala20Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Ala247Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Ala31Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Ala36Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Arg150Gln Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Arg23Leu Uncertain significance Single submitter
Inborn genetic diseases
CLN5 p.Arg351Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Asn251Asp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Asp108Ala Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Asp6Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Cys231Tyr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Gln310His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Gln320Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Gln9Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Glu244Ala Uncertain significance Single submitter
Inborn genetic diseases
CLN5 p.Glu244Gly Uncertain significance Single submitter
CLN5 p.Glu253Gln Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Glu4Ala Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Glu4Asp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Glu93Asp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Gly169Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Gly16Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Gly285Asp Uncertain significance Single submitter
Inborn genetic diseases
CLN5 p.His112Gln Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.His112Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.His298Tyr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Ile120Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Ile259Leu Uncertain significance Single submitter
CLN5 p.Ile259Val Uncertain significance Single submitter
CLN5 p.Ile341Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Ile350Met Uncertain significance Single submitter
Inborn genetic diseases
CLN5 p.Ile83Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Ile83Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Ile83Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Leu113Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Leu269Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 5
CLN5 p.Leu358Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Lys289Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Lys353Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Met13Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Met13Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Met191Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Phe166Ser Uncertain significance Single submitter
Inborn genetic diseases
CLN5 p.Phe167Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Phe192Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Phe234Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Phe249Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Pro297Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Pro337Ala Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Pro54Leu Uncertain significance Single submitter
CLN5 p.Ser263Asn Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Ser307Asn Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 5
CLN5 p.Ser45Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Thr132Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Thr75Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Thr75Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 5
CLN5 p.Thr79Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Thr7Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Trp225Cys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Tyr131His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Tyr262His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Tyr322Cys Uncertain significance Single submitter
Inborn genetic diseases
CLN5 p.Val184Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Val235Ala Uncertain significance Single submitter
neuronal ceroid lipofuscinosis

Predictors split 91

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

CLN5 p.Ala164Ser Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Arg15Trp Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Arg258Ile Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Arg290Ile Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 5
CLN5 p.Arg59His Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Arg63His Pathogenic/Likely pathogenic Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Arg63Leu Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Arg96Gln Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 5
CLN5 p.Asn143Ser Pathogenic/Likely pathogenic Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Asn213Lys Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Asn271Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CLN5 p.Asp154His Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Cys144Tyr Pathogenic Multiple submitters
neuronal ceroid lipofuscinosis 5
CLN5 p.Cys27Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
CLN5 p.Cys77Tyr Likely pathogenic Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Glu219Ala Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Gly221Arg Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 5
CLN5 p.Gly221Glu Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Gly40Arg Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Gly46Cys Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.His148Tyr Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Lys176Glu Uncertain significance Multiple submitters
Inborn genetic diseases
CLN5 p.Lys302Glu Uncertain significance Multiple submitters
Inborn genetic diseases
CLN5 p.Lys340Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CLN5 p.Phe295Leu Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Phe312Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CLN5 p.Ser124Asn Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Thr254Ile Uncertain significance Multiple submitters
CLN5 p.Thr301Asn Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN5 p.Trp102Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CLN5 p.Val5Ile Uncertain significance Multiple submitters
CLN5-related disorder
CLN5 p.Ala155Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Ala163Thr Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Ala2Val Conflicting Single submitter
Inborn genetic diseases
CLN5 p.Ala31Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Ala36Pro Conflicting Single submitter
Inborn genetic diseases
CLN5 p.Ala72Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Ala72Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Ala99Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Arg15Gln Uncertain significance Single submitter
Inborn genetic diseases
CLN5 p.Arg50Trp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Arg59Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Arg59Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Arg63Pro Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Arg96Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Asn130Ser Uncertain significance Single submitter
Inborn genetic diseases
CLN5 p.Asn255Ser Uncertain significance Single submitter
Inborn genetic diseases
CLN5 p.Asp172Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Asp230Asn Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Asp90Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Cys144Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Cys70Arg Conflicting Single submitter
pontocerebellar hypoplasia type 2D
CLN5 p.Cys77Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Gln320His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Glu137Lys Uncertain significance Single submitter
CLN5 p.Gly142Arg Conflicting Single submitter
Inborn genetic diseases
CLN5 p.Gly179Trp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Ile120Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Ile187Val Uncertain significance Single submitter
CLN5 p.Ile252Met Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Ile252Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Ile288Met Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 5
CLN5 p.Ile316Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Ile316Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Ile341Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Leu141Pro Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Leu33His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Leu348Phe Uncertain significance Single submitter
Inborn genetic diseases
CLN5 p.Leu97Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Lys319Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Met116Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Met334Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Phe139Leu Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Phe139Ser Uncertain significance Single submitter
CLN5 p.Phe260Leu Uncertain significance Single submitter
Inborn genetic diseases
CLN5 p.Phe276Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 5
CLN5 p.Phe312Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Pro100Thr Uncertain significance Single submitter
CLN5 p.Pro151Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Pro156Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Pro333Ser Likely pathogenic Single submitter
neuronal ceroid lipofuscinosis 5
CLN5 p.Pro48Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Pro68Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Pro82Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Ser188Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Ser228Phe Uncertain significance Single submitter
CLN5 p.Ser263Gly Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Thr145Lys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 5
CLN5 p.Thr254Ser Uncertain significance Single submitter
Inborn genetic diseases
CLN5 p.Tyr292Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN5 p.Val199Ala Uncertain significance Single submitter
Inborn genetic diseases

All CLN5 variants

Pathogenic 52

p.Arg150Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Arg96Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Asn271fs Multiple submitters neuronal ceroid lipofuscinosis
p.Cys144Tyr Multiple submitters neuronal ceroid lipofuscinosis 5 ⚠
p.Gln194Ter Multiple submitters neuronal ceroid lipofuscinosis 5
p.Gln320Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Glu303Ter Multiple submitters neuronal ceroid lipofuscinosis
p.His52fs Multiple submitters neuronal ceroid lipofuscinosis
p.Leu309fs Multiple submitters neuronal ceroid lipofuscinosis
p.Thr342_Tyr343insTer Multiple submitters neuronal ceroid lipofuscinosis
p.Trp135Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Trp175fs Multiple submitters neuronal ceroid lipofuscinosis
p.Trp26Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Tyr322fs Multiple submitters neuronal ceroid lipofuscinosis
c.174-1G>A Single submitter Abnormality of metabolism/homeostasis
c.679C>T Single submitter neurodevelopmental disorder
p.Asn255fs Single submitter neuronal ceroid lipofuscinosis
p.Asp202fs Single submitter neuronal ceroid lipofuscinosis
p.Asp227fs Single submitter neuronal ceroid lipofuscinosis
p.Asp6fs Single submitter neuronal ceroid lipofuscinosis
p.Glu219fs Single submitter neuronal ceroid lipofuscinosis
p.Glu303fs Single submitter neuronal ceroid lipofuscinosis
p.Glu93Ter Single submitter neuronal ceroid lipofuscinosis
p.Gly189fs Single submitter neuronal ceroid lipofuscinosis
p.Gly280fs Single submitter neuronal ceroid lipofuscinosis
p.Ile207_Tyr208insTer Single submitter neuronal ceroid lipofuscinosis
p.Leu236fs Single submitter neuronal ceroid lipofuscinosis
p.Leu305_Leu306insTer Single submitter neuronal ceroid lipofuscinosis
p.Leu33fs Single submitter neuronal ceroid lipofuscinosis
p.Leu97fs Single submitter inherited retinal dystrophy
p.Lys200fs Single submitter neuronal ceroid lipofuscinosis
p.Lys319fs Single submitter neuronal ceroid lipofuscinosis
p.Lys73fs Single submitter neuronal ceroid lipofuscinosis
p.Phe167fs Single submitter neuronal ceroid lipofuscinosis
p.Phe249fs Single submitter neuronal ceroid lipofuscinosis
p.Phe276fs Single submitter neuronal ceroid lipofuscinosis
p.Phe295fs Single submitter neuronal ceroid lipofuscinosis
p.Phe338fs Single submitter neuronal ceroid lipofuscinosis
p.Pro278fs Single submitter neuronal ceroid lipofuscinosis
p.Pro84fs Single submitter neuronal ceroid lipofuscinosis
p.Ser81Ter Single submitter neuronal ceroid lipofuscinosis
p.Thr283fs Single submitter neuronal ceroid lipofuscinosis
p.Trp212Ter Single submitter neuronal ceroid lipofuscinosis
p.Tyr209Ter Single submitter neuronal ceroid lipofuscinosis
p.Tyr229Ter Single submitter neuronal ceroid lipofuscinosis
p.Tyr256Ter Single submitter neuronal ceroid lipofuscinosis
p.Tyr262Ter Single submitter neuronal ceroid lipofuscinosis
p.Tyr57fs Single submitter neuronal ceroid lipofuscinosis
p.Val214fs Single submitter neuronal ceroid lipofuscinosis 5
p.Val37fs Single submitter neuronal ceroid lipofuscinosis
c.339+2T>A No assertion criteria neuronal ceroid lipofuscinosis 5
c.566-42_*46del No assertion criteria neuronal ceroid lipofuscinosis 5

Pathogenic/Likely pathogenic 28

p.Arg258fs Multiple submitters neuronal ceroid lipofuscinosis
p.Arg63fs Multiple submitters neuronal ceroid lipofuscinosis
p.Arg63His Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Asn143Ser Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Asn240Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Asp172fs Multiple submitters neuronal ceroid lipofuscinosis 5
p.Cys144fs Multiple submitters neuronal ceroid lipofuscinosis
p.Gln183Ter Multiple submitters neuronal ceroid lipofuscinosis 5
p.Glu177Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Glu265Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Glu328Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Gly270fs Multiple submitters neuronal ceroid lipofuscinosis
p.Gly280Ter Multiple submitters neuronal ceroid lipofuscinosis 5
p.His148fs Multiple submitters neuronal ceroid lipofuscinosis
p.His174_Trp175insTer Multiple submitters Inborn genetic diseases
p.Leu126Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Leu305fs Multiple submitters neuronal ceroid lipofuscinosis
p.Phe260fs Multiple submitters Inborn genetic diseases
p.Phe312fs Multiple submitters neuronal ceroid lipofuscinosis
p.Pro68_Tyr69insTer Multiple submitters neuronal ceroid lipofuscinosis 5
p.Ser49fs Multiple submitters neuronal ceroid lipofuscinosis
p.Thr238fs Multiple submitters neuronal ceroid lipofuscinosis 5
p.Trp198Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Trp225Ter Multiple submitters neuronal ceroid lipofuscinosis 5
p.Trp28Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Trp330Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Tyr209Asp Multiple submitters neuronal ceroid lipofuscinosis
p.Tyr329Ter Multiple submitters neuronal ceroid lipofuscinosis

Likely pathogenic 53

c.174-2A>G Multiple submitters neuronal ceroid lipofuscinosis
c.340-52_365delinsTAACGGG Multiple submitters neuronal ceroid lipofuscinosis
p.Cys77Tyr Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Leu323fs Multiple submitters neuronal ceroid lipofuscinosis
p.Tyr209Cys Multiple submitters neuronal ceroid lipofuscinosis
c.339+1G>A Single submitter neuronal ceroid lipofuscinosis
c.339+1G>T Single submitter neuronal ceroid lipofuscinosis
c.339+2T>G Single submitter neuronal ceroid lipofuscinosis
c.340-1del Single submitter neuronal ceroid lipofuscinosis
c.340-1G>C Single submitter neuronal ceroid lipofuscinosis
c.565+1G>C Single submitter neuronal ceroid lipofuscinosis
p.Arg15fs Single submitter neuronal ceroid lipofuscinosis 5
p.Arg96Pro Single submitter neuronal ceroid lipofuscinosis
p.Asn190fs Single submitter neuronal ceroid lipofuscinosis 5
p.Asn203fs Single submitter neuronal ceroid lipofuscinosis 5
p.Cys165Ter Single submitter neuronal ceroid lipofuscinosis
p.Gln98Ter Single submitter neuronal ceroid lipofuscinosis
p.Glu12fs Single submitter neuronal ceroid lipofuscinosis
p.Glu134Ter Single submitter neuronal ceroid lipofuscinosis 5
p.Glu219Ter Single submitter neuronal ceroid lipofuscinosis 5
p.Gly121Arg Single submitter neuronal ceroid lipofuscinosis 5
p.His117Pro Single submitter neuronal ceroid lipofuscinosis 5
p.Ile207fs Single submitter neuronal ceroid lipofuscinosis 5
p.Leu113Ter Single submitter neuronal ceroid lipofuscinosis 5
p.Leu323Ter Single submitter neuronal ceroid lipofuscinosis 5
p.Lys197_Trp198insTer Single submitter neuronal ceroid lipofuscinosis 5
p.Lys233fs Single submitter neuronal ceroid lipofuscinosis
p.Lys73Ter Single submitter neuronal ceroid lipofuscinosis
p.Met116fs Single submitter neuronal ceroid lipofuscinosis 5
p.Phe122Ser Single submitter neuronal ceroid lipofuscinosis 5
p.Phe157fs Single submitter neuronal ceroid lipofuscinosis 5
p.Phe327fs Single submitter neuronal ceroid lipofuscinosis 5
p.Pro333Ser Single submitter neuronal ceroid lipofuscinosis 5 ⚠
p.Ser124fs Single submitter neuronal ceroid lipofuscinosis
p.Ser188fs Single submitter neuronal ceroid lipofuscinosis
p.Ser42fs Single submitter neuronal ceroid lipofuscinosis 5
p.Ser45fs Single submitter neuronal ceroid lipofuscinosis 5
p.Trp102Ter Single submitter neuronal ceroid lipofuscinosis 5
p.Trp158fs Single submitter neuronal ceroid lipofuscinosis 5
p.Trp158Ser Single submitter neuronal ceroid lipofuscinosis
p.Trp175Ter Single submitter neuronal ceroid lipofuscinosis 5
p.Trp26fs Single submitter neuronal ceroid lipofuscinosis 5
p.Tyr293Ter Single submitter neuronal ceroid lipofuscinosis
p.Tyr343fs Single submitter neuronal ceroid lipofuscinosis 5
p.Tyr74Ter Single submitter neuronal ceroid lipofuscinosis
p.Val38fs Single submitter neuronal ceroid lipofuscinosis
c.565+1G>A No assertion criteria neuronal ceroid lipofuscinosis 5
p.Gln140Ter No assertion criteria neuronal ceroid lipofuscinosis 5
p.Gly128fs No assertion criteria neuronal ceroid lipofuscinosis 5
p.Leu332fs No assertion criteria neuronal ceroid lipofuscinosis 5
p.Pro64fs No assertion criteria neuronal ceroid lipofuscinosis 5
p.Thr127fs No assertion criteria neuronal ceroid lipofuscinosis 5
p.Trp225fs No assertion criteria neuronal ceroid lipofuscinosis 5

Conflicting classifications of pathogenicity 32

c.173+5G>A Single submitter neuronal ceroid lipofuscinosis 5
c.565+3_565+4dup Single submitter Inborn genetic diseases
c.566-7A>G Single submitter neuronal ceroid lipofuscinosis 5
c.-146T>C Single submitter Inborn genetic diseases
c.-21G>A Single submitter Inborn genetic diseases
c.-4C>T Single submitter Inborn genetic diseases
c.-8G>A Single submitter neuronal ceroid lipofuscinosis 5
c.-97del Single submitter Inborn genetic diseases
p.16GA[3] Single submitter neuronal ceroid lipofuscinosis
p.Ala163Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala2Val Single submitter Inborn genetic diseases ⚠
p.Ala36Pro Single submitter Inborn genetic diseases ⚠
p.Arg63Cys Single submitter Inborn genetic diseases ⚠
p.Arg63Pro Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn190Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn193Lys Single submitter Inborn genetic diseases ⚠
p.Asp230Asn Single submitter neuronal ceroid lipofuscinosis ⚠
p.Cys159Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Cys70Arg Single submitter pontocerebellar hypoplasia type 2D ⚠
p.Gln140= Single submitter neuronal ceroid lipofuscinosis
p.Gly142Arg Single submitter Inborn genetic diseases ⚠
p.Lys114= Single submitter neuronal ceroid lipofuscinosis
p.Phe139Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro156Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser263Gly Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser356fs Single submitter neuronal ceroid lipofuscinosis
p.Thr342= Single submitter neuronal ceroid lipofuscinosis
p.Trp158Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Trp26Arg Single submitter Inborn genetic diseases ⚠
p.Trp330Cys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Tyr325Cys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val214= Single submitter neuronal ceroid lipofuscinosis 5

Benign 15

c.173+18C>T Multiple submitters neuronal ceroid lipofuscinosis
c.173+238C>T Multiple submitters
c.173+8C>T Multiple submitters neuronal ceroid lipofuscinosis
c.340-136G>A Multiple submitters
c.340-185C>G Multiple submitters
c.566-97G>A Multiple submitters
c.-115A>G Multiple submitters
c.-144C>T Multiple submitters Inborn genetic diseases
c.173+213G>A Single submitter
c.339+309T>C Single submitter
c.566-321A>C Single submitter
c.566-55del Single submitter
c.566-55dup Single submitter
c.*1132A>G Single submitter neuronal ceroid lipofuscinosis 5
c.*1159G>A Single submitter neuronal ceroid lipofuscinosis 5

Benign/Likely benign 13

c.566-8dup Multiple submitters neuronal ceroid lipofuscinosis
c.-76A>G Multiple submitters Inborn genetic diseases
c.-87C>T Multiple submitters neuronal ceroid lipofuscinosis
c.-99G>C Multiple submitters neuronal ceroid lipofuscinosis
c.*1279G>C Multiple submitters neuronal ceroid lipofuscinosis 5
c.*155C>T Multiple submitters neuronal ceroid lipofuscinosis 5
c.*158C>G Multiple submitters neuronal ceroid lipofuscinosis 5
c.*292G>A Multiple submitters neuronal ceroid lipofuscinosis 5
c.*33A>G Multiple submitters neuronal ceroid lipofuscinosis 5
p.Lys319Arg Multiple submitters neuronal ceroid lipofuscinosis
p.Pro347= Multiple submitters Inborn genetic diseases
p.Thr127= Multiple submitters Inborn genetic diseases
p.Val235= Multiple submitters neuronal ceroid lipofuscinosis

Likely benign 188

c.173+13GC[6] Multiple submitters neuronal ceroid lipofuscinosis
c.173+166G>A Multiple submitters
c.173+9G>T Multiple submitters neuronal ceroid lipofuscinosis
c.339+11A>G Multiple submitters neuronal ceroid lipofuscinosis
c.340-248T>C Multiple submitters
c.565+15T>G Multiple submitters neuronal ceroid lipofuscinosis
c.565+20C>T Multiple submitters neuronal ceroid lipofuscinosis
c.565+90T>A Multiple submitters
c.*180C>T Multiple submitters neuronal ceroid lipofuscinosis 5
c.*269G>A Multiple submitters neuronal ceroid lipofuscinosis 5
p.Ala8= Multiple submitters Inborn genetic diseases
p.Asp6= Multiple submitters neuronal ceroid lipofuscinosis
p.Gly40= Multiple submitters neuronal ceroid lipofuscinosis
p.Phe139= Multiple submitters Inborn genetic diseases
p.Pro218= Multiple submitters Inborn genetic diseases
p.Thr7= Multiple submitters neuronal ceroid lipofuscinosis
p.Tyr209= Multiple submitters Inborn genetic diseases
p.Tyr229= Multiple submitters Inborn genetic diseases
p.Tyr69= Multiple submitters neuronal ceroid lipofuscinosis
c.173+11C>T Single submitter neuronal ceroid lipofuscinosis
c.173+12G>A Single submitter neuronal ceroid lipofuscinosis
c.173+12G>C Single submitter neuronal ceroid lipofuscinosis
c.173+16C>T Single submitter neuronal ceroid lipofuscinosis
c.173+198G>T Single submitter
c.173+7G>T Single submitter neuronal ceroid lipofuscinosis
c.173+7GCG[2] Single submitter neuronal ceroid lipofuscinosis
c.173+9G>C Single submitter neuronal ceroid lipofuscinosis
c.174-19G>A Single submitter neuronal ceroid lipofuscinosis
c.174-20G>A Single submitter neuronal ceroid lipofuscinosis
c.174-284C>A Single submitter
c.174-3del Single submitter neuronal ceroid lipofuscinosis
c.174-5A>G Single submitter neuronal ceroid lipofuscinosis
c.174-6T>C Single submitter neuronal ceroid lipofuscinosis
c.174-7T>C Single submitter neuronal ceroid lipofuscinosis
c.174-8_174-6del Single submitter neuronal ceroid lipofuscinosis
c.174-9_174-6del Single submitter neuronal ceroid lipofuscinosis
c.174-9C>A Single submitter neuronal ceroid lipofuscinosis
c.174-9del Single submitter neuronal ceroid lipofuscinosis
c.339+13C>T Single submitter neuronal ceroid lipofuscinosis
c.339+15T>C Single submitter neuronal ceroid lipofuscinosis
c.339+17G>A Single submitter neuronal ceroid lipofuscinosis
c.339+19C>A Single submitter neuronal ceroid lipofuscinosis
c.339+7A>G Single submitter neuronal ceroid lipofuscinosis
c.340-12G>A Single submitter neuronal ceroid lipofuscinosis
c.340-14C>A Single submitter neuronal ceroid lipofuscinosis
c.340-14C>T Single submitter neuronal ceroid lipofuscinosis
c.340-8T>C Single submitter neuronal ceroid lipofuscinosis
c.565+10G>A Single submitter neuronal ceroid lipofuscinosis
c.565+17T>C Single submitter neuronal ceroid lipofuscinosis
c.565+19G>C Single submitter neuronal ceroid lipofuscinosis
c.565+20C>G Single submitter
c.565+262C>A Single submitter
c.565+7del Single submitter neuronal ceroid lipofuscinosis
c.566-10T>C Single submitter neuronal ceroid lipofuscinosis
c.566-147G>A Single submitter
c.566-14T>C Single submitter neuronal ceroid lipofuscinosis
c.566-15_566-11del Single submitter neuronal ceroid lipofuscinosis
c.566-15G>A Single submitter neuronal ceroid lipofuscinosis
c.566-15G>T Single submitter neuronal ceroid lipofuscinosis
c.566-20_566-19insA Single submitter neuronal ceroid lipofuscinosis
c.566-56_566-55dup Single submitter
c.566-7A>C Single submitter neuronal ceroid lipofuscinosis
c.566-8T>A Single submitter neuronal ceroid lipofuscinosis
c.-103G>T Single submitter neuronal ceroid lipofuscinosis
c.-109T>A Single submitter neuronal ceroid lipofuscinosis
c.-10G>C Single submitter neuronal ceroid lipofuscinosis
c.-11G>C Single submitter
c.-13T>C Single submitter neuronal ceroid lipofuscinosis
c.-1G>C Single submitter neuronal ceroid lipofuscinosis
c.-3C>T Single submitter neuronal ceroid lipofuscinosis
c.-7C>T Single submitter neuronal ceroid lipofuscinosis
c.*310T>C Single submitter neuronal ceroid lipofuscinosis 5
p.Ala11= Single submitter neuronal ceroid lipofuscinosis
p.Ala155= Single submitter neuronal ceroid lipofuscinosis
p.Ala163= Single submitter neuronal ceroid lipofuscinosis
p.Ala164= Single submitter neuronal ceroid lipofuscinosis
p.Ala185= Single submitter neuronal ceroid lipofuscinosis
p.Ala19= Single submitter neuronal ceroid lipofuscinosis
p.Ala196= Single submitter neuronal ceroid lipofuscinosis
p.Ala2= Single submitter neuronal ceroid lipofuscinosis
p.Ala222= Single submitter neuronal ceroid lipofuscinosis
p.Ala243= Single submitter neuronal ceroid lipofuscinosis
p.Ala287= Single submitter neuronal ceroid lipofuscinosis
p.Ala29= Single submitter neuronal ceroid lipofuscinosis
p.Ala31= Single submitter neuronal ceroid lipofuscinosis
p.Arg150= Single submitter neuronal ceroid lipofuscinosis
p.Arg21= Single submitter neuronal ceroid lipofuscinosis
p.Arg23= Single submitter neuronal ceroid lipofuscinosis
p.Arg2Pro Single submitter
p.Arg351= Single submitter neuronal ceroid lipofuscinosis
p.Arg43= Single submitter neuronal ceroid lipofuscinosis
p.Arg50= Single submitter neuronal ceroid lipofuscinosis
p.Arg51= Single submitter neuronal ceroid lipofuscinosis
p.Arg59= Single submitter neuronal ceroid lipofuscinosis
p.Arg63= Single submitter neuronal ceroid lipofuscinosis
p.Asn160= Single submitter neuronal ceroid lipofuscinosis
p.Asn178= Single submitter neuronal ceroid lipofuscinosis
p.Asn203= Single submitter neuronal ceroid lipofuscinosis
p.Asn213= Single submitter neuronal ceroid lipofuscinosis
p.Asn240= Single submitter neuronal ceroid lipofuscinosis
p.Asn251Ser Single submitter
p.Asn326= Single submitter neuronal ceroid lipofuscinosis
p.Asp118= Single submitter neuronal ceroid lipofuscinosis
p.Asp154= Single submitter neuronal ceroid lipofuscinosis
p.Asp171= Single submitter neuronal ceroid lipofuscinosis
p.Asp202= Single submitter neuronal ceroid lipofuscinosis
p.Asp90= Single submitter neuronal ceroid lipofuscinosis
p.Cys165= Single submitter neuronal ceroid lipofuscinosis
p.Cys77= Single submitter neuronal ceroid lipofuscinosis
p.Gln71= Single submitter neuronal ceroid lipofuscinosis
p.Gln9= Single submitter neuronal ceroid lipofuscinosis
p.Glu137= Single submitter neuronal ceroid lipofuscinosis
p.Glu223= Single submitter neuronal ceroid lipofuscinosis
p.Glu328= Single submitter neuronal ceroid lipofuscinosis
p.Gly10= Single submitter neuronal ceroid lipofuscinosis
p.Gly107= Single submitter neuronal ceroid lipofuscinosis
p.Gly111= Single submitter neuronal ceroid lipofuscinosis
p.Gly142= Single submitter neuronal ceroid lipofuscinosis
p.Gly16= Single submitter neuronal ceroid lipofuscinosis
p.Gly162= Single submitter neuronal ceroid lipofuscinosis
p.Gly18= Single submitter neuronal ceroid lipofuscinosis
p.Gly206= Single submitter neuronal ceroid lipofuscinosis
p.Gly277= Single submitter neuronal ceroid lipofuscinosis
p.Gly80= Single submitter neuronal ceroid lipofuscinosis
p.His112= Single submitter neuronal ceroid lipofuscinosis
p.His117= Single submitter neuronal ceroid lipofuscinosis
p.His318= Single submitter neuronal ceroid lipofuscinosis
p.Ile346= Single submitter neuronal ceroid lipofuscinosis
p.Ile47= Single submitter neuronal ceroid lipofuscinosis
p.Ile83= Single submitter neuronal ceroid lipofuscinosis
p.Leu109= Single submitter neuronal ceroid lipofuscinosis
p.Leu113= Single submitter neuronal ceroid lipofuscinosis
p.Leu149= Single submitter Inborn genetic diseases
p.Leu242= Single submitter neuronal ceroid lipofuscinosis
p.Leu305= Single submitter neuronal ceroid lipofuscinosis
p.Leu309= Single submitter neuronal ceroid lipofuscinosis
p.Leu32= Single submitter neuronal ceroid lipofuscinosis
p.Leu323= Single submitter neuronal ceroid lipofuscinosis
p.Leu35= Single submitter neuronal ceroid lipofuscinosis
p.Leu355= Single submitter neuronal ceroid lipofuscinosis
p.Leu358= Single submitter neuronal ceroid lipofuscinosis
p.Leu97= Single submitter neuronal ceroid lipofuscinosis
p.Lys129= Single submitter neuronal ceroid lipofuscinosis
p.Lys176= Single submitter neuronal ceroid lipofuscinosis
p.Lys197= Single submitter neuronal ceroid lipofuscinosis
p.Lys289= Single submitter neuronal ceroid lipofuscinosis
p.Lys319= Single submitter neuronal ceroid lipofuscinosis
p.Lys335= Single submitter neuronal ceroid lipofuscinosis
p.Phe104= Single submitter neuronal ceroid lipofuscinosis
p.Phe122= Single submitter neuronal ceroid lipofuscinosis
p.Phe166= Single submitter neuronal ceroid lipofuscinosis
p.Phe192= Single submitter neuronal ceroid lipofuscinosis
p.Phe321= Single submitter neuronal ceroid lipofuscinosis
p.Phe76= Single submitter neuronal ceroid lipofuscinosis
p.Pro147= Single submitter neuronal ceroid lipofuscinosis
p.Pro156= Single submitter neuronal ceroid lipofuscinosis
p.Pro266= Single submitter neuronal ceroid lipofuscinosis
p.Pro297= Single submitter neuronal ceroid lipofuscinosis
p.Pro349= Single submitter neuronal ceroid lipofuscinosis
p.Pro48= Single submitter neuronal ceroid lipofuscinosis
p.Pro64= Single submitter neuronal ceroid lipofuscinosis
p.Pro68= Single submitter neuronal ceroid lipofuscinosis
p.Pro78= Single submitter neuronal ceroid lipofuscinosis
p.Ser25= Single submitter neuronal ceroid lipofuscinosis
p.Ser307= Single submitter neuronal ceroid lipofuscinosis
p.Ser356= Single submitter neuronal ceroid lipofuscinosis
p.Thr125= Single submitter neuronal ceroid lipofuscinosis
p.Thr145= Single submitter neuronal ceroid lipofuscinosis
p.Thr180= Single submitter neuronal ceroid lipofuscinosis
p.Thr205= Single submitter neuronal ceroid lipofuscinosis
p.Thr238= Single submitter neuronal ceroid lipofuscinosis
p.Thr254= Single submitter neuronal ceroid lipofuscinosis
p.Thr257= Single submitter neuronal ceroid lipofuscinosis
p.Thr283= Single submitter neuronal ceroid lipofuscinosis
p.Thr301= Single submitter neuronal ceroid lipofuscinosis
p.Thr354= Single submitter
p.Tyr131= Single submitter neuronal ceroid lipofuscinosis
p.Tyr256= Single submitter neuronal ceroid lipofuscinosis
p.Tyr268= Single submitter neuronal ceroid lipofuscinosis
p.Tyr322= Single submitter neuronal ceroid lipofuscinosis
p.Tyr325= Single submitter neuronal ceroid lipofuscinosis
p.Tyr74= Single submitter neuronal ceroid lipofuscinosis
p.Val101= Single submitter neuronal ceroid lipofuscinosis
p.Val199= Single submitter neuronal ceroid lipofuscinosis
p.Val317= Single submitter neuronal ceroid lipofuscinosis
p.Val38= Single submitter neuronal ceroid lipofuscinosis
p.Val5= Single submitter neuronal ceroid lipofuscinosis
c.173+30G>A No assertion criteria

Uncertain significance 215

c.-123C>T Multiple submitters Inborn genetic diseases
c.-141C>T Multiple submitters neuronal ceroid lipofuscinosis
c.-23C>T Multiple submitters Inborn genetic diseases
c.-47C>G Multiple submitters neuronal ceroid lipofuscinosis
c.-74T>C Multiple submitters neuronal ceroid lipofuscinosis
c.-84C>A Multiple submitters neuronal ceroid lipofuscinosis
c.-94A>T Multiple submitters Inborn genetic diseases
c.-96C>G Multiple submitters Inborn genetic diseases
c.-96C>T Multiple submitters neuronal ceroid lipofuscinosis 5
p.Ala11Ser Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ala164Ser Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ala26Glu Multiple submitters Inborn genetic diseases
p.Arg15Trp Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Arg258Ile Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Arg258Lys Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Arg290Ile Multiple submitters neuronal ceroid lipofuscinosis 5 ⚠
p.Arg51Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg59Cys Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Arg59His Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Arg63Leu Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Arg96Gln Multiple submitters neuronal ceroid lipofuscinosis 5 ⚠
p.Asn213His Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Asn213Lys Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Asn255Lys Multiple submitters ⚠
p.Asn255Thr Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Asn271Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp154His Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Asp89Asn Multiple submitters Inborn genetic diseases ⚠
p.Cys27Tyr Multiple submitters Inborn genetic diseases ⚠
p.Gln310Glu Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Gln320Glu Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Glu219Ala Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Gly221Arg Multiple submitters neuronal ceroid lipofuscinosis 5 ⚠
p.Gly221Glu Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Gly40Arg Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Gly46Cys Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.His148Tyr Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ile350Val Multiple submitters Inborn genetic diseases ⚠
p.Leu149Pro Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Lys176Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys302Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys340Thr Multiple submitters Inborn genetic diseases ⚠
p.Met133Arg Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Met153Ile Multiple submitters Inborn genetic diseases ⚠
p.Met191Thr Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Met1Ile Multiple submitters neuronal ceroid lipofuscinosis 5
p.Met1Leu Multiple submitters neuronal ceroid lipofuscinosis
p.Phe295Leu Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Phe312Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro349Ser Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ser124Asn Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Thr254Ile Multiple submitters ⚠
p.Thr273Ile Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Thr301Asn Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Thr7Ala Multiple submitters Inborn genetic diseases ⚠
p.Trp102Gly Multiple submitters Inborn genetic diseases ⚠
p.Val182Ile Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Val5Ile Multiple submitters CLN5-related disorder ⚠
c.339+5G>C Single submitter neuronal ceroid lipofuscinosis
c.339+6G>A Single submitter neuronal ceroid lipofuscinosis
c.565+6T>C Single submitter neuronal ceroid lipofuscinosis
c.-113G>T Single submitter neuronal ceroid lipofuscinosis
c.-11G>A Single submitter neuronal ceroid lipofuscinosis
c.-14C>T Single submitter neuronal ceroid lipofuscinosis
c.-17G>A Single submitter Inborn genetic diseases
c.-2T>A Single submitter Inborn genetic diseases
c.-75C>G Single submitter neuronal ceroid lipofuscinosis
c.-78G>T Single submitter neuronal ceroid lipofuscinosis
c.-83G>T Single submitter neuronal ceroid lipofuscinosis
c.-86C>T Single submitter neuronal ceroid lipofuscinosis
c.-99G>A Single submitter neuronal ceroid lipofuscinosis
c.*1169T>C Single submitter neuronal ceroid lipofuscinosis 5
c.*1490A>G Single submitter neuronal ceroid lipofuscinosis 5
c.*163G>A Single submitter neuronal ceroid lipofuscinosis 5
c.*177A>C Single submitter neuronal ceroid lipofuscinosis 5
c.*263A>T Single submitter neuronal ceroid lipofuscinosis 5
c.*468G>C Single submitter neuronal ceroid lipofuscinosis 5
c.*609A>G Single submitter neuronal ceroid lipofuscinosis 5
c.*614C>T Single submitter neuronal ceroid lipofuscinosis 5
c.*636A>G Single submitter neuronal ceroid lipofuscinosis 5
c.*721G>A Single submitter neuronal ceroid lipofuscinosis 5
c.*833C>T Single submitter neuronal ceroid lipofuscinosis 5
c.*954T>C Single submitter neuronal ceroid lipofuscinosis 5
c.*963T>G Single submitter neuronal ceroid lipofuscinosis 5
c.*975G>A Single submitter neuronal ceroid lipofuscinosis 5
p.Ala155Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala196Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala20Gly Single submitter Inborn genetic diseases
p.Ala20Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala247Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala31Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala31Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala36Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala72Gly Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala72Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala99Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg150Gln Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg15Gln Single submitter Inborn genetic diseases ⚠
p.Arg23Leu Single submitter Inborn genetic diseases ⚠
p.Arg351Gly Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg50Trp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg59Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg59Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg96Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn130Ser Single submitter Inborn genetic diseases ⚠
p.Asn251Asp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn255Ser Single submitter Inborn genetic diseases ⚠
p.Asn4Glyfs Single submitter neuronal ceroid lipofuscinosis
p.Asp108Ala Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asp172Gly Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asp6Gly Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asp90Glu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Cys144Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Cys231Tyr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Cys77Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gln16Argfs Single submitter Inborn genetic diseases
p.Gln310His Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gln320Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gln320His Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gln9Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu137Lys Single submitter ⚠
p.Glu244Ala Single submitter Inborn genetic diseases ⚠
p.Glu244Gly Single submitter ⚠
p.Glu253Gln Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu4Ala Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu4Asp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu93Asp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly169Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly16Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly179Trp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly19Val Single submitter Inborn genetic diseases
p.Gly24Arg Single submitter neuronal ceroid lipofuscinosis 5
p.Gly285Asp Single submitter Inborn genetic diseases ⚠
p.His112Gln Single submitter neuronal ceroid lipofuscinosis ⚠
p.His112Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.His298Tyr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile120Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile120Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile187Val Single submitter ⚠
p.Ile252Met Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile252Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile259Leu Single submitter ⚠
p.Ile259Val Single submitter ⚠
p.Ile288Met Single submitter neuronal ceroid lipofuscinosis 5 ⚠
p.Ile316Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile316Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile341Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile341Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile350Met Single submitter Inborn genetic diseases ⚠
p.Ile83Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile83Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile83Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu113Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu141Pro Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu269Arg Single submitter neuronal ceroid lipofuscinosis 5 ⚠
p.Leu33His Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu348Phe Single submitter Inborn genetic diseases ⚠
p.Leu358Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu5Pro Single submitter
p.Leu97Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys289Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys319Glu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys353Glu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Met116Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Met13Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Met13Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Met191Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Met334Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Phe139Ser Single submitter ⚠
p.Phe166Ser Single submitter Inborn genetic diseases ⚠
p.Phe167Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Phe192Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Phe234Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Phe249Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Phe260Leu Single submitter Inborn genetic diseases ⚠
p.Phe276Leu Single submitter neuronal ceroid lipofuscinosis 5 ⚠
p.Phe312Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro100Thr Single submitter ⚠
p.Pro151Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro156Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro297Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro337Ala Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro347_Leu348= Single submitter neuronal ceroid lipofuscinosis
p.Pro48Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro54Leu Single submitter ⚠
p.Pro68Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro82Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser188Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser228Phe Single submitter ⚠
p.Ser263Asn Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser307Asn Single submitter neuronal ceroid lipofuscinosis 5 ⚠
p.Ser45Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr132Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr145Lys Single submitter neuronal ceroid lipofuscinosis 5 ⚠
p.Thr254Ser Single submitter Inborn genetic diseases ⚠
p.Thr75Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr75Ser Single submitter neuronal ceroid lipofuscinosis 5 ⚠
p.Thr79Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr7Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Trp225Cys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Tyr131His Single submitter neuronal ceroid lipofuscinosis ⚠
p.Tyr262His Single submitter neuronal ceroid lipofuscinosis ⚠
p.Tyr292Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Tyr322Cys Single submitter Inborn genetic diseases ⚠
p.Val184Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val199Ala Single submitter Inborn genetic diseases ⚠
p.Val235Ala Single submitter neuronal ceroid lipofuscinosis ⚠
c.565+2dup No assertion criteria neuronal ceroid lipofuscinosis 5
c.-7C>A No assertion criteria neuronal ceroid lipofuscinosis 5
c.-98G>T No assertion criteria neuronal ceroid lipofuscinosis 5
p.Ala185_Ile187del No assertion criteria neuronal ceroid lipofuscinosis 5
p.Arg351fs No assertion criteria neuronal ceroid lipofuscinosis 5
p.Glu12_Ala17dup No assertion criteria neuronal ceroid lipofuscinosis 5
p.Met1Val No assertion criteria neuronal ceroid lipofuscinosis 5
p.Pro347fs No assertion criteria neuronal ceroid lipofuscinosis 5