CLN3 — 1128 ClinVar variants

All ClinVar germline CLN3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 312 flagged for review →

61 Pathogenic · 48 Pathogenic/Likely pathogenic · 97 Likely pathogenic · 38 Conflicting · 27 Benign · 15 Benign/Likely benign · 488 Likely benign · 354 Uncertain significance

Full CLN3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 312

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 13

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

CLN3 p.Arg127Trp Conflicting Single submitter
neuronal ceroid lipofuscinosis 3
CLN3 p.Arg272Gln Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Cys435Trp Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Gly189Trp Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Gly419Glu Conflicting Single submitter
neuronal ceroid lipofuscinosis 3
CLN3 p.Leu170Pro Conflicting Single submitter
neuronal ceroid lipofuscinosis 3
CLN3 p.Met216Lys Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Pro81Leu Conflicting Single submitter
Inborn genetic diseases
CLN3 p.Thr80Ser Conflicting Single submitter
Inborn genetic diseases
CLN3 p.Val140Ile Conflicting Single submitter
Inborn genetic diseases
CLN3 p.Val155Gly Conflicting Single submitter
neuronal ceroid lipofuscinosis 3
CLN3 p.Val290Leu Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Val390Met Conflicting Single submitter
inherited retinal dystrophy

Predictors lean, ClinVar uncertain 186

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 186

CLN3 p.Ala103Val Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Ala158Pro Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 3
CLN3 p.Ala236Val Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Ala248Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Ala258Val Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Ala397Thr Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Arg127Gln Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Arg255Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Arg338Cys Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 3
CLN3 p.Arg338His Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Arg89Gln Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Asn49Lys Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 3
CLN3 p.Asn93Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Asp29Glu Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Asp362Asn Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Asp362Glu Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Cys353Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Gln204Pro Uncertain significance Multiple submitters
retinitis pigmentosa
CLN3 p.Glu257Asp Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Gly192Glu Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.His146Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.His146Tyr Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.His34Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.His84Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Ile254Thr Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Ile285Val Uncertain significance Multiple submitters
inherited retinal dystrophy
CLN3 p.Ile414Val Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 3
CLN3 p.Ile82Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Leu214Pro Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Leu222Gln Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Leu313Pro Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Lys66Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Phe11Ser Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 3
CLN3 p.Pro107Ser Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Pro259Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Pro287Ser Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Ser261Leu Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 3
CLN3 p.Ser265Ala Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Ser401Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Ser421Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Ser423Leu Uncertain significance Multiple submitters
retinitis pigmentosa
CLN3 p.Ser51Phe Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Ser69Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Thr108Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Thr412Ala Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 3
CLN3 p.Val130Ile Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Val291Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Val363Met Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Ala103Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ala221Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ala245Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ala258Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ala316Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ala316Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ala316Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ala328Pro Uncertain significance Single submitter
CLN3 p.Ala332Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ala411Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ala98Asp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ala98Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Arg178Ser Uncertain significance Single submitter
retinitis pigmentosa
CLN3 p.Arg250Gln Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Arg8Gln Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Asn48Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Asn49His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Asn49Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Asp29Asn Uncertain significance Single submitter
CLN3 p.Asp402Gly Uncertain significance Single submitter
CLN3 p.Asp61Asn Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Cys134Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Cys339Trp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Cys353Arg Uncertain significance Single submitter
CLN3 p.Cys92Trp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Gln31Lys Uncertain significance Single submitter
Inborn genetic diseases
CLN3 p.Gln72His Uncertain significance Single submitter
CLN3 p.Glu166Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Glu18Asp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Glu18Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Glu242Asp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Glu244Ala Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Gly118Asp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Gly154Asp Uncertain significance Single submitter
CLN3 p.Gly187Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Gly189Glu Uncertain significance Single submitter
CLN3 p.Gly190Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Gly241Glu Uncertain significance Single submitter
Inborn genetic diseases
CLN3 p.Gly264Arg Uncertain significance Single submitter
inherited retinal dystrophy
CLN3 p.Gly32Val Uncertain significance Single submitter
Inborn genetic diseases
CLN3 p.Gly366Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Gly366Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Gly386Ser Uncertain significance Single submitter
CLN3 p.Gly3Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Gly3Asp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Gly3Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.His30Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.His315Asp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.His34Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.His431Tyr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.His84Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ile105Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ile111Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ile133Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ile133Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ile378Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ile396Asn Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ile396Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Leu106His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 3
CLN3 p.Leu109Pro Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Leu121Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Leu122Val Uncertain significance Single submitter
Inborn genetic diseases
CLN3 p.Leu141Pro Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Leu141Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Leu170Phe Uncertain significance Single submitter
Inborn genetic diseases
CLN3 p.Leu197Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Leu207Pro Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Leu224Pro Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Leu27Pro Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Leu306His Uncertain significance Single submitter
retinitis pigmentosa 101
CLN3 p.Leu350Arg Uncertain significance Single submitter
Inborn genetic diseases
CLN3 p.Leu373Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Leu373Val Uncertain significance Single submitter
CLN3 p.Leu398Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Leu426Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Leu437Phe Uncertain significance Single submitter
CLN3 p.Lys262Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Lys66Asn Uncertain significance Single submitter
Inborn genetic diseases
CLN3 p.Lys66Gln Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Lys66Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Phe169Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Phe278Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Phe367Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Pro107Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Pro107Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Pro123Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Pro126Leu Uncertain significance Single submitter
CLN3 p.Pro177Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Pro21Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Pro21Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Pro23Leu Uncertain significance Single submitter
Inborn genetic diseases
CLN3 p.Pro23Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Pro259Gln Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Pro259Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Pro287Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Pro287Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Pro79Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Pro83Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ser145Pro Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ser147Ala Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ser151Asn Uncertain significance Single submitter
Inborn genetic diseases
CLN3 p.Ser159Thr Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 113

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

CLN3 p.Ala143Thr Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Ala158Thr Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 3
CLN3 p.Ala388Val Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Arg250Trp Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 3
CLN3 p.Arg272Trp Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Arg341His Likely benign Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Arg343His Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Arg405Trp Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
CLN3 p.Asn85His Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Asn93Asp Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Cys340Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Glu17Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Glu257Lys Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Gly206Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Gly264Cys Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.His404Tyr Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Ile105Val Benign/Likely benign Multiple submitters
Inborn genetic diseases
CLN3 p.Leu121Val Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 3
CLN3 p.Leu217Met Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Leu383Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Met409Val Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Phe90Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Pro209Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Pro252Ser Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Pro429Ser Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 3
CLN3 p.Ser131Asn Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Ser215Tyr Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 3
CLN3 p.Ser69Trp Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Thr19Ile Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Thr256Ile Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Thr345Ser Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Thr80Met Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Thr97Met Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Tyr176His Uncertain significance Multiple submitters
Inborn genetic diseases
CLN3 p.Val180Met Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN3 p.Val330Ile Pathogenic/Likely pathogenic Multiple submitters
Inborn genetic diseases
CLN3 p.Val374Ile Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis 3
CLN3 p.Ala135Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ala136Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ala196Ser Uncertain significance Single submitter
CLN3 p.Ala349Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ala387Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ala387Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ala388Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ala410Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Arg10His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Arg250Pro Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Arg320Cys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Arg341Cys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Arg343Cys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Arg405Gln Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Arg89Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Asn37Lys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Asn395Asp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Asn395Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Asn48Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Asp13Tyr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Asp402Asn Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Cys153Tyr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Cys353Tyr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Gln251Pro Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Gln317Arg Uncertain significance Single submitter
CLN3 p.Gln318His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Glu15Lys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Glu246Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Glu399Asp Uncertain significance Single submitter
CLN3 p.Gly16Arg Uncertain significance Single submitter
CLN3 p.Gly201Val Uncertain significance Single submitter
Inborn genetic diseases
CLN3 p.Gly70Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.His120Asn Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.His120Gln Uncertain significance Single submitter
Inborn genetic diseases
CLN3 p.His120Tyr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.His394Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Leu102Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Leu164Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Leu230Met Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Leu230Phe Uncertain significance Single submitter
Inborn genetic diseases
CLN3 p.Leu230Trp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Leu253Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Leu269Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Leu306Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Leu348Pro Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Leu46Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Met216Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Phe393Tyr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Pro252Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ser125Asn Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ser131Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ser14Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ser151Cys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ser182Cys Uncertain significance Single submitter
CLN3 p.Ser215Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ser226Gly Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ser265Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ser268Asn Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ser314Asn Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 3
CLN3 p.Ser370Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ser73Asn Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Ser87Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Thr108Ala Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Thr203Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Thr417Ala Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Tyr284His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Tyr380His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Tyr389Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Val130Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Val156Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Val180Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Val363Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Val374Ala Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN3 p.Phe278Leu Uncertain significance No assertion criteria
juvenile neuronal ceroid lipofuscinosis
CLN3 p.Phe278Ser Uncertain significance No assertion criteria
juvenile neuronal ceroid lipofuscinosis
CLN3 p.Ser7Trp Uncertain significance No assertion criteria
juvenile neuronal ceroid lipofuscinosis

All CLN3 variants

Pathogenic 61

c.1197+2T>A Multiple submitters cone-rod dystrophy
c.125+1G>C Multiple submitters neuronal ceroid lipofuscinosis
c.461-280_677+382del Multiple submitters retinitis pigmentosa
c.533+1G>C Multiple submitters juvenile neuronal ceroid lipofuscinosis
p.Ala191fs Multiple submitters neuronal ceroid lipofuscinosis
p.Gln211Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Gln352Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Glu295Lys Multiple submitters juvenile neuronal ceroid lipofuscinosis
p.Glu295Ter Multiple submitters juvenile neuronal ceroid lipofuscinosis
p.Glu399Ter Multiple submitters neuronal ceroid lipofuscinosis 3
p.Lys262Ter Multiple submitters neuronal ceroid lipofuscinosis 3
p.Ser208fs Multiple submitters neuronal ceroid lipofuscinosis
p.Trp35Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Tyr199Ter Multiple submitters juvenile neuronal ceroid lipofuscinosis
p.Val142fs Multiple submitters neuronal ceroid lipofuscinosis
c.1198-2A>C Single submitter neuronal ceroid lipofuscinosis
c.(460+1_461-1 Single submitter inherited retinal dystrophy
c.460+376_677+388del Single submitter neuronal ceroid lipofuscinosis 3
c.461-1G>A Single submitter neuronal ceroid lipofuscinosis
c.461-279_677+384del Single submitter neuronal ceroid lipofuscinosis 3
c.790+532_1056+1445del Single submitter neuronal ceroid lipofuscinosis 3
c.962+2T>G Single submitter neuronal ceroid lipofuscinosis
p.Ala135fs Single submitter neuronal ceroid lipofuscinosis 3
p.Asp416fs Single submitter neuronal ceroid lipofuscinosis
p.Gln237Ter Single submitter neuronal ceroid lipofuscinosis
p.Gln300Ter Single submitter neuronal ceroid lipofuscinosis 3
p.Gln323Ter Single submitter neuronal ceroid lipofuscinosis
p.Glu15Ter Single submitter neuronal ceroid lipofuscinosis
p.Glu17Ter Single submitter neuronal ceroid lipofuscinosis
p.Glu235Ter Single submitter neuronal ceroid lipofuscinosis
p.Gly201fs Single submitter neuronal ceroid lipofuscinosis
p.Gly329fs Single submitter neuronal ceroid lipofuscinosis
p.Gly6fs Single submitter
p.His34_Trp35insTer Single submitter neuronal ceroid lipofuscinosis
p.Leu119fs Single submitter neuronal ceroid lipofuscinosis 3
p.Leu200fs Single submitter neuronal ceroid lipofuscinosis
p.Leu28fs Single submitter neuronal ceroid lipofuscinosis
p.Leu337fs Single submitter neuronal ceroid lipofuscinosis
p.Met1Leu Single submitter neuronal ceroid lipofuscinosis
p.Phe228fs Single submitter neuronal ceroid lipofuscinosis
p.Phe278fs Single submitter neuronal ceroid lipofuscinosis
p.Ser12fs Single submitter neuronal ceroid lipofuscinosis
p.Ser131fs Single submitter neuronal ceroid lipofuscinosis
p.Ser138fs Single submitter neuronal ceroid lipofuscinosis
p.Ser161fs Single submitter neuronal ceroid lipofuscinosis
p.Ser161Leu Single submitter neuronal ceroid lipofuscinosis
p.Ser162Ter Single submitter neuronal ceroid lipofuscinosis 3
p.Ser198fs Single submitter neuronal ceroid lipofuscinosis
p.Ser69Ter Single submitter
p.Thr108fs Single submitter neuronal ceroid lipofuscinosis
p.Thr80fs Single submitter neuronal ceroid lipofuscinosis
p.Trp183Ter Single submitter neuronal ceroid lipofuscinosis
p.Trp275Ter Single submitter neuronal ceroid lipofuscinosis
p.Tyr319fs Single submitter Inborn genetic diseases
p.Val128fs Single submitter neuronal ceroid lipofuscinosis 3
p.Val291fs Single submitter neuronal ceroid lipofuscinosis
c.295-2A>G No assertion criteria inherited retinal dystrophy
c.(374+1_375-1 No assertion criteria retinitis pigmentosa
c.375-3C>G No assertion criteria retinitis pigmentosa 101
p.Gly165Glu No assertion criteria CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED
p.Ser125fs No assertion criteria neuronal ceroid lipofuscinosis 3

Pathogenic/Likely pathogenic 48

c.1056+3A>C Multiple submitters neuronal ceroid lipofuscinosis
c.1197+1G>A Multiple submitters neuronal ceroid lipofuscinosis
c.1198-1G>T Multiple submitters neuronal ceroid lipofuscinosis
c.125+5G>A Multiple submitters neuronal ceroid lipofuscinosis
c.460+1G>A Multiple submitters neuronal ceroid lipofuscinosis
c.461-1G>T Multiple submitters neuronal ceroid lipofuscinosis
c.461-2A>G Multiple submitters neuronal ceroid lipofuscinosis
c.461-3C>G Multiple submitters neuronal ceroid lipofuscinosis
c.534-2A>G Multiple submitters neuronal ceroid lipofuscinosis
c.678-2A>G Multiple submitters juvenile neuronal ceroid lipofuscinosis
c.790+1del Multiple submitters neuronal ceroid lipofuscinosis 3
c.790+2T>C Multiple submitters neuronal ceroid lipofuscinosis 3
c.906+2T>A Multiple submitters neuronal ceroid lipofuscinosis
c.954_962+18del Multiple submitters juvenile neuronal ceroid lipofuscinosis
c.963-1G>A Multiple submitters neuronal ceroid lipofuscinosis
p.Ala59Thr Multiple submitters inherited retinal dystrophy
p.Arg127fs Multiple submitters juvenile neuronal ceroid lipofuscinosis
p.Arg334Cys Multiple submitters juvenile neuronal ceroid lipofuscinosis
p.Arg334His Multiple submitters juvenile neuronal ceroid lipofuscinosis
p.Arg405Trp Multiple submitters inherited retinal dystrophy ⚠
p.Arg89Ter Multiple submitters Inborn genetic diseases
p.Asp416Gly Multiple submitters neuronal ceroid lipofuscinosis
p.Cys353Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Gln204Ter Multiple submitters neuronal ceroid lipofuscinosis 3
p.Gln251Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Gln317Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Gln72Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Glu244fs Multiple submitters neuronal ceroid lipofuscinosis
p.Glu273fs Multiple submitters neuronal ceroid lipofuscinosis 3
p.Gly187fs Multiple submitters neuronal ceroid lipofuscinosis
p.Gly189Arg Multiple submitters neuronal ceroid lipofuscinosis
p.His315fs Multiple submitters neuronal ceroid lipofuscinosis
p.Leu214fs Multiple submitters juvenile neuronal ceroid lipofuscinosis
p.Leu359fs Multiple submitters neuronal ceroid lipofuscinosis
p.Leu46_Cys47insTer Multiple submitters neuronal ceroid lipofuscinosis
p.Met1Ile Multiple submitters juvenile neuronal ceroid lipofuscinosis
p.Met1Val Multiple submitters CLN3-related disorder
p.Phe331fs Multiple submitters Inborn genetic diseases
p.Pro81fs Multiple submitters neuronal ceroid lipofuscinosis
p.Ser171Phe Multiple submitters retinitis pigmentosa
p.Ser7fs Multiple submitters neuronal ceroid lipofuscinosis 3
p.Trp184Ter Multiple submitters juvenile neuronal ceroid lipofuscinosis
p.Trp283Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Trp42Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Tyr124fs Multiple submitters retinitis pigmentosa
p.Val330Ile Multiple submitters Inborn genetic diseases ⚠
p.Val330Phe Multiple submitters neuronal ceroid lipofuscinosis
p.Val374fs Multiple submitters neuronal ceroid lipofuscinosis 3

Likely pathogenic 97

c.1056+1G>T Multiple submitters Inborn genetic diseases
c.222+1G>A Multiple submitters juvenile neuronal ceroid lipofuscinosis
c.375-2del Multiple submitters juvenile neuronal ceroid lipofuscinosis
c.46+1G>A Multiple submitters juvenile neuronal ceroid lipofuscinosis
c.47-1G>A Multiple submitters neuronal ceroid lipofuscinosis
c.534-1G>C Multiple submitters neuronal ceroid lipofuscinosis
c.790+1G>A Multiple submitters neuronal ceroid lipofuscinosis
p.Ser312_Leu313insTer Multiple submitters juvenile neuronal ceroid lipofuscinosis
p.Ser423Ter Multiple submitters neuronal ceroid lipofuscinosis 3
p.Val167Asp Multiple submitters neuronal ceroid lipofuscinosis
c.1050_1056+19del Single submitter neuronal ceroid lipofuscinosis
c.1056+1G>A Single submitter neuronal ceroid lipofuscinosis
c.1057-1G>A Single submitter neuronal ceroid lipofuscinosis
c.1057-2A>G Single submitter neuronal ceroid lipofuscinosis
c.125+2T>C Single submitter neuronal ceroid lipofuscinosis 3
c.374+1G>A Single submitter neuronal ceroid lipofuscinosis
c.375-1_375delinsA Single submitter juvenile neuronal ceroid lipofuscinosis
c.375-2A>G Single submitter juvenile neuronal ceroid lipofuscinosis
c.375-2A>T Single submitter neuronal ceroid lipofuscinosis
c.46+1G>T Single submitter juvenile neuronal ceroid lipofuscinosis
c.460+2_460+3del Single submitter juvenile neuronal ceroid lipofuscinosis
c.460+2T>G Single submitter neuronal ceroid lipofuscinosis
c.461dup Single submitter neuronal ceroid lipofuscinosis 3
c.47-2A>T Single submitter neuronal ceroid lipofuscinosis
c.47-2del Single submitter neuronal ceroid lipofuscinosis 3
c.533+1G>A Single submitter inherited retinal dystrophy
c.677+1G>A Single submitter neuronal ceroid lipofuscinosis 3
c.677+1G>T Single submitter neuronal ceroid lipofuscinosis 3
c.678-1_680del Single submitter neuronal ceroid lipofuscinosis 3
c.678-2A>C Single submitter neuronal ceroid lipofuscinosis 3
c.790+1G>T Single submitter neuronal ceroid lipofuscinosis
c.791-2A>G Single submitter neuronal ceroid lipofuscinosis
c.837+1G>A Single submitter juvenile neuronal ceroid lipofuscinosis
c.837+1G>T Single submitter neuronal ceroid lipofuscinosis
c.838-3C>G Single submitter neuronal ceroid lipofuscinosis 3
c.906+2T>G Single submitter neuronal ceroid lipofuscinosis
c.906+5G>A Single submitter juvenile neuronal ceroid lipofuscinosis
c.907-2A>G Single submitter neuronal ceroid lipofuscinosis
c.963-2A>G Single submitter neuronal ceroid lipofuscinosis
p.Ala245fs Single submitter juvenile neuronal ceroid lipofuscinosis
p.Arg274fs Single submitter juvenile neuronal ceroid lipofuscinosis
p.Asp61del Single submitter neuronal ceroid lipofuscinosis 3
p.Asp61fs Single submitter juvenile neuronal ceroid lipofuscinosis
p.Cys353fs Single submitter neuronal ceroid lipofuscinosis 3
p.Cys92Ter Single submitter neuronal ceroid lipofuscinosis 3
p.Gln251fs Single submitter
p.Gln300fs Single submitter
p.Glu295Gly Single submitter neuronal ceroid lipofuscinosis
p.Glu304Ter Single submitter neuronal ceroid lipofuscinosis 3
p.Gly301fs Single submitter neuronal ceroid lipofuscinosis 3
p.His65fs Single submitter juvenile neuronal ceroid lipofuscinosis
p.His84fs Single submitter neuronal ceroid lipofuscinosis 3
p.Leu106fs Single submitter juvenile neuronal ceroid lipofuscinosis
p.Leu122fs Single submitter neuronal ceroid lipofuscinosis 3
p.Leu253fs Single submitter juvenile neuronal ceroid lipofuscinosis
p.Leu313fs Single submitter neuronal ceroid lipofuscinosis 3
p.Leu350fs Single submitter juvenile neuronal ceroid lipofuscinosis
p.Leu422Pro Single submitter neuronal ceroid lipofuscinosis
p.Lys66fs Single submitter neuronal ceroid lipofuscinosis 3
p.Met1Thr Single submitter neuronal ceroid lipofuscinosis 3
p.Phe308fs Single submitter juvenile neuronal ceroid lipofuscinosis
p.Ser186fs Single submitter neuronal ceroid lipofuscinosis 3
p.Ser335Tyr Single submitter
p.Ser336fs Single submitter neuronal ceroid lipofuscinosis 3
p.Trp283fs Single submitter neuronal ceroid lipofuscinosis 3
p.Trp321Ter Single submitter neuronal ceroid lipofuscinosis 3
p.Trp346Ter Single submitter neuronal ceroid lipofuscinosis 3
p.Tyr124Ter Single submitter neuronal ceroid lipofuscinosis 3
p.Tyr176Ter Single submitter neuronal ceroid lipofuscinosis 3
p.Tyr284Ter Single submitter neuronal ceroid lipofuscinosis 3
p.Val140fs Single submitter neuronal ceroid lipofuscinosis 3
p.Val156fs Single submitter neuronal ceroid lipofuscinosis 3
p.Val95fs Single submitter juvenile neuronal ceroid lipofuscinosis
c.125+1del No assertion criteria neuronal ceroid lipofuscinosis 3
c.126-1G>A No assertion criteria neuronal ceroid lipofuscinosis 3
c.222+2T>G No assertion criteria neuronal ceroid lipofuscinosis 3
c.223-1G>A No assertion criteria neuronal ceroid lipofuscinosis 3
c.295-2A>C No assertion criteria neuronal ceroid lipofuscinosis 3
c.46+1G>C No assertion criteria neuronal ceroid lipofuscinosis 3
c.461-13G>C No assertion criteria neuronal ceroid lipofuscinosis 3
c.461-1G>C No assertion criteria neuronal ceroid lipofuscinosis 3
c.791-1G>A No assertion criteria neuronal ceroid lipofuscinosis 3
c.962+1G>A No assertion criteria neuronal ceroid lipofuscinosis 3
c.963-1G>T No assertion criteria neuronal ceroid lipofuscinosis 3
c.963-2A>C No assertion criteria neuronal ceroid lipofuscinosis 3
p.Ala196fs No assertion criteria neuronal ceroid lipofuscinosis 3
p.Gln327Ter No assertion criteria neuronal ceroid lipofuscinosis 3
p.Gln352His No assertion criteria neuronal ceroid lipofuscinosis 3
p.Gly187Ala No assertion criteria neuronal ceroid lipofuscinosis 3
p.Gly190fs No assertion criteria neuronal ceroid lipofuscinosis 3
p.Leu101Pro No assertion criteria neuronal ceroid lipofuscinosis 3
p.Leu230fs No assertion criteria neuronal ceroid lipofuscinosis 3
p.Leu376fs No assertion criteria neuronal ceroid lipofuscinosis 3
p.Ser161Ter No assertion criteria neuronal ceroid lipofuscinosis 3
p.Ser94fs No assertion criteria neuronal ceroid lipofuscinosis 3
p.Tyr372Ter No assertion criteria neuronal ceroid lipofuscinosis 3
p.Val357fs No assertion criteria neuronal ceroid lipofuscinosis 3

Conflicting classifications of pathogenicity 38

c.1057-14C>A Single submitter neuronal ceroid lipofuscinosis
c.1198-5C>T Single submitter neuronal ceroid lipofuscinosis
c.125+3G>A Single submitter neuronal ceroid lipofuscinosis 3
c.126-8C>T Single submitter neuronal ceroid lipofuscinosis 3
c.461-4C>A Single submitter Inborn genetic diseases
c.47-11C>A Single submitter neuronal ceroid lipofuscinosis
c.677+8G>A Single submitter neuronal ceroid lipofuscinosis
c.790+3A>C Single submitter neuronal ceroid lipofuscinosis
c.791-7C>A Single submitter neuronal ceroid lipofuscinosis 3
c.837+5G>A Single submitter neuronal ceroid lipofuscinosis
c.962+3A>T Single submitter neuronal ceroid lipofuscinosis
c.-129G>C Single submitter neuronal ceroid lipofuscinosis 3
c.-264C>G Single submitter neuronal ceroid lipofuscinosis 3
c.-41C>A Single submitter neuronal ceroid lipofuscinosis 3
p.Ala410= Single submitter Inborn genetic diseases
p.Arg127Trp Single submitter neuronal ceroid lipofuscinosis 3 ⚠
p.Arg272Gln Single submitter neuronal ceroid lipofuscinosis ⚠
p.Cys435Trp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu403= Single submitter neuronal ceroid lipofuscinosis
p.Gly189Trp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly419Glu Single submitter neuronal ceroid lipofuscinosis 3 ⚠
p.His74= Single submitter neuronal ceroid lipofuscinosis
p.Ile133= Single submitter neuronal ceroid lipofuscinosis
p.Leu109= Single submitter neuronal ceroid lipofuscinosis
p.Leu170Pro Single submitter neuronal ceroid lipofuscinosis 3 ⚠
p.Leu172= Single submitter Inborn genetic diseases
p.Leu231= Single submitter neuronal ceroid lipofuscinosis
p.Leu373= Single submitter neuronal ceroid lipofuscinosis
p.Met216Lys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro81Leu Single submitter Inborn genetic diseases ⚠
p.Ser131= Single submitter neuronal ceroid lipofuscinosis
p.Ser226Gly Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr80Ser Single submitter Inborn genetic diseases ⚠
p.Val140Ile Single submitter Inborn genetic diseases ⚠
p.Val155Gly Single submitter neuronal ceroid lipofuscinosis 3 ⚠
p.Val277= Single submitter Inborn genetic diseases
p.Val290Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val390Met Single submitter inherited retinal dystrophy ⚠

Benign 27

c.295-59G>A Multiple submitters
c.790+16C>A Multiple submitters neuronal ceroid lipofuscinosis
p.Glu15= Multiple submitters Inborn genetic diseases
p.Glu257= Multiple submitters Inborn genetic diseases
c.1056+102dup Single submitter
c.1056+140G>A Single submitter
c.1057-144C>T Single submitter
c.1057-148A>G Single submitter
c.1057-22dup Single submitter
c.1057-55C>T Single submitter
c.294+236A>G Single submitter
c.294+253T>A Single submitter
c.294+265A>T Single submitter
c.294+266_294+267del Single submitter
c.295-229T>C Single submitter
c.375-5del Single submitter neuronal ceroid lipofuscinosis
c.375-5dup Single submitter neuronal ceroid lipofuscinosis
c.46+63A>G Single submitter
c.461-3del Single submitter neuronal ceroid lipofuscinosis
c.461-3dup Single submitter neuronal ceroid lipofuscinosis
c.47-60C>G Single submitter
c.677+147C>G Single submitter
c.678-313G>A Single submitter
c.790+281_790+292del Single submitter
c.790+292del Single submitter
c.-76-4G>T Single submitter
c.-77+85G>A Single submitter

Benign/Likely benign 15

c.1197+13C>T Multiple submitters neuronal ceroid lipofuscinosis
c.1197+8T>C Multiple submitters neuronal ceroid lipofuscinosis
c.295-17C>T Multiple submitters neuronal ceroid lipofuscinosis
c.678-18C>A Multiple submitters neuronal ceroid lipofuscinosis
c.963-16C>G Multiple submitters neuronal ceroid lipofuscinosis
c.*99C>T Multiple submitters neuronal ceroid lipofuscinosis 3
p.Ala58= Multiple submitters Inborn genetic diseases
p.His404Arg Multiple submitters Inborn genetic diseases
p.His404Asn Multiple submitters Inborn genetic diseases
p.Ile105Val Multiple submitters Inborn genetic diseases ⚠
p.Leu106= Multiple submitters Inborn genetic diseases
p.Leu325= Multiple submitters Inborn genetic diseases
p.Phe90= Multiple submitters neuronal ceroid lipofuscinosis
p.Ser138= Multiple submitters neuronal ceroid lipofuscinosis
p.Thr80= Multiple submitters Inborn genetic diseases

Likely benign 488

Showing the top 300 by review status; the full set is in the sitemap.

c.1057-11C>T Multiple submitters neuronal ceroid lipofuscinosis
c.1197+13C>A Multiple submitters neuronal ceroid lipofuscinosis
c.1197+14G>A Multiple submitters neuronal ceroid lipofuscinosis
c.1198-14C>G Multiple submitters neuronal ceroid lipofuscinosis
c.1198-17G>A Multiple submitters neuronal ceroid lipofuscinosis
c.125+49A>G Multiple submitters
c.222+9CT[2] Multiple submitters neuronal ceroid lipofuscinosis
c.223-8C>T Multiple submitters neuronal ceroid lipofuscinosis
c.295-13T>A Multiple submitters neuronal ceroid lipofuscinosis
c.295-17C>G Multiple submitters neuronal ceroid lipofuscinosis
c.375-19_375-4dup Multiple submitters Inborn genetic diseases
c.46+13G>A Multiple submitters neuronal ceroid lipofuscinosis
c.461-19G>C Multiple submitters neuronal ceroid lipofuscinosis
c.47-4C>T Multiple submitters neuronal ceroid lipofuscinosis
c.533+18G>A Multiple submitters neuronal ceroid lipofuscinosis
c.534-18C>T Multiple submitters neuronal ceroid lipofuscinosis
c.677+19G>A Multiple submitters neuronal ceroid lipofuscinosis
c.677+201G>A Multiple submitters
c.790+168C>T Multiple submitters
c.791-112G>T Multiple submitters
c.837+12G>A Multiple submitters neuronal ceroid lipofuscinosis
c.963-16C>A Multiple submitters neuronal ceroid lipofuscinosis
c.*155A>C Multiple submitters neuronal ceroid lipofuscinosis 3
p.Ala103= Multiple submitters neuronal ceroid lipofuscinosis 3
p.Ala205= Multiple submitters neuronal ceroid lipofuscinosis
p.Arg334= Multiple submitters Inborn genetic diseases
p.Arg341His Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Gly329= Multiple submitters Inborn genetic diseases
p.Gly386= Multiple submitters Inborn genetic diseases
p.His60= Multiple submitters neuronal ceroid lipofuscinosis
p.Leu113= Multiple submitters neuronal ceroid lipofuscinosis
p.Leu28= Multiple submitters Inborn genetic diseases
p.Leu383= Multiple submitters neuronal ceroid lipofuscinosis
p.Phe11= Multiple submitters neuronal ceroid lipofuscinosis
p.Pro23= Multiple submitters neuronal ceroid lipofuscinosis
p.Pro239= Multiple submitters neuronal ceroid lipofuscinosis
p.Pro259= Multiple submitters neuronal ceroid lipofuscinosis
p.Ser423= Multiple submitters Inborn genetic diseases
p.Ser69= Multiple submitters neuronal ceroid lipofuscinosis
p.Ser96= Multiple submitters neuronal ceroid lipofuscinosis
p.Thr173= Multiple submitters neuronal ceroid lipofuscinosis
p.Thr97= Multiple submitters neuronal ceroid lipofuscinosis
p.Tyr389= Multiple submitters neuronal ceroid lipofuscinosis
c.1056+10C>G Single submitter neuronal ceroid lipofuscinosis
c.1056+118del Single submitter
c.1056+12C>G Single submitter neuronal ceroid lipofuscinosis
c.1056+16C>A Single submitter neuronal ceroid lipofuscinosis
c.1056+16C>T Single submitter neuronal ceroid lipofuscinosis
c.1056+18C>T Single submitter neuronal ceroid lipofuscinosis
c.1056+20C>T Single submitter neuronal ceroid lipofuscinosis
c.1056+8A>C Single submitter
c.1057-11C>A Single submitter neuronal ceroid lipofuscinosis
c.1057-11C>G Single submitter neuronal ceroid lipofuscinosis
c.1057-12C>T Single submitter neuronal ceroid lipofuscinosis
c.1057-14C>G Single submitter neuronal ceroid lipofuscinosis
c.1057-14C>T Single submitter neuronal ceroid lipofuscinosis
c.1057-16C>T Single submitter neuronal ceroid lipofuscinosis
c.1057-17T>A Single submitter neuronal ceroid lipofuscinosis
c.1057-18C>A Single submitter neuronal ceroid lipofuscinosis
c.1057-18C>T Single submitter neuronal ceroid lipofuscinosis
c.1057-19C>T Single submitter neuronal ceroid lipofuscinosis
c.1057-302A>G Single submitter
c.1057-5C>G Single submitter neuronal ceroid lipofuscinosis
c.1057-5C>T Single submitter neuronal ceroid lipofuscinosis
c.1197+10G>A Single submitter neuronal ceroid lipofuscinosis
c.1197+11G>T Single submitter neuronal ceroid lipofuscinosis
c.1197+13C>G Single submitter neuronal ceroid lipofuscinosis
c.1197+15G>T Single submitter neuronal ceroid lipofuscinosis
c.1197+16G>A Single submitter neuronal ceroid lipofuscinosis
c.1197+17C>G Single submitter neuronal ceroid lipofuscinosis
c.1197+18A>G Single submitter neuronal ceroid lipofuscinosis
c.1197+20G>A Single submitter neuronal ceroid lipofuscinosis
c.1197+8_1197+10del Single submitter neuronal ceroid lipofuscinosis
c.1198-10G>A Single submitter neuronal ceroid lipofuscinosis
c.1198-10G>T Single submitter neuronal ceroid lipofuscinosis
c.1198-16C>G Single submitter neuronal ceroid lipofuscinosis
c.1198-16C>T Single submitter neuronal ceroid lipofuscinosis
c.1198-19C>G Single submitter neuronal ceroid lipofuscinosis
c.1198-19C>T Single submitter neuronal ceroid lipofuscinosis
c.1198-4C>G Single submitter neuronal ceroid lipofuscinosis
c.1198-7C>T Single submitter neuronal ceroid lipofuscinosis
c.1198-8C>A Single submitter neuronal ceroid lipofuscinosis
c.1198-9C>T Single submitter neuronal ceroid lipofuscinosis
c.125+13A>C Single submitter neuronal ceroid lipofuscinosis
c.125+16C>T Single submitter neuronal ceroid lipofuscinosis
c.125+19C>A Single submitter neuronal ceroid lipofuscinosis
c.125+9C>A Single submitter neuronal ceroid lipofuscinosis
c.125+9C>G Single submitter neuronal ceroid lipofuscinosis
c.126-11G>A Single submitter neuronal ceroid lipofuscinosis
c.126-11G>C Single submitter neuronal ceroid lipofuscinosis
c.126-14C>T Single submitter neuronal ceroid lipofuscinosis
c.126-16G>A Single submitter neuronal ceroid lipofuscinosis
c.126-18C>T Single submitter neuronal ceroid lipofuscinosis
c.126-20A>G Single submitter neuronal ceroid lipofuscinosis
c.126-211A>T Single submitter
c.126-4C>A Single submitter neuronal ceroid lipofuscinosis
c.126-9T>C Single submitter neuronal ceroid lipofuscinosis
c.222+10T>C Single submitter neuronal ceroid lipofuscinosis
c.222+11C>G Single submitter neuronal ceroid lipofuscinosis
c.222+13C>T Single submitter neuronal ceroid lipofuscinosis
c.222+14T>A Single submitter neuronal ceroid lipofuscinosis
c.222+17C>T Single submitter neuronal ceroid lipofuscinosis
c.222+18A>G Single submitter neuronal ceroid lipofuscinosis
c.222+19C>T Single submitter neuronal ceroid lipofuscinosis
c.222+20C>T Single submitter neuronal ceroid lipofuscinosis
c.222+7G>A Single submitter neuronal ceroid lipofuscinosis
c.222+9C>G Single submitter neuronal ceroid lipofuscinosis
c.223-10C>G Single submitter neuronal ceroid lipofuscinosis
c.223-10C>T Single submitter neuronal ceroid lipofuscinosis
c.223-15C>T Single submitter neuronal ceroid lipofuscinosis
c.223-16G>A Single submitter neuronal ceroid lipofuscinosis
c.223-18A>G Single submitter neuronal ceroid lipofuscinosis
c.223-18A>T Single submitter neuronal ceroid lipofuscinosis
c.223-20A>G Single submitter neuronal ceroid lipofuscinosis
c.223-5A>G Single submitter neuronal ceroid lipofuscinosis
c.223-6del Single submitter neuronal ceroid lipofuscinosis
c.223-7C>T Single submitter neuronal ceroid lipofuscinosis
c.223-9T>C Single submitter neuronal ceroid lipofuscinosis
c.294+10C>G Single submitter neuronal ceroid lipofuscinosis
c.294+10C>T Single submitter neuronal ceroid lipofuscinosis
c.294+12_294+14del Single submitter neuronal ceroid lipofuscinosis
c.294+16A>T Single submitter neuronal ceroid lipofuscinosis
c.294+17C>T Single submitter neuronal ceroid lipofuscinosis
c.294+251A>T Single submitter
c.294+265_294+266insT Single submitter
c.294+286A>G Single submitter
c.294+7A>G Single submitter neuronal ceroid lipofuscinosis
c.294+8C>T Single submitter neuronal ceroid lipofuscinosis
c.294+9T>C Single submitter neuronal ceroid lipofuscinosis
c.295-127C>T Single submitter
c.295-12C>T Single submitter neuronal ceroid lipofuscinosis
c.295-17del Single submitter neuronal ceroid lipofuscinosis
c.295-18T>C Single submitter neuronal ceroid lipofuscinosis
c.295-19C>T Single submitter neuronal ceroid lipofuscinosis
c.295-5C>T Single submitter neuronal ceroid lipofuscinosis
c.295-7G>A Single submitter neuronal ceroid lipofuscinosis
c.295-7G>T Single submitter neuronal ceroid lipofuscinosis
c.374+14T>C Single submitter neuronal ceroid lipofuscinosis
c.374+15A>G Single submitter neuronal ceroid lipofuscinosis
c.374+16G>T Single submitter neuronal ceroid lipofuscinosis
c.374+7G>A Single submitter neuronal ceroid lipofuscinosis
c.374+7G>C Single submitter neuronal ceroid lipofuscinosis
c.374+9G>A Single submitter neuronal ceroid lipofuscinosis
c.375-10A>G Single submitter neuronal ceroid lipofuscinosis
c.375-11C>A Single submitter neuronal ceroid lipofuscinosis
c.375-11C>T Single submitter neuronal ceroid lipofuscinosis
c.375-12T>A Single submitter neuronal ceroid lipofuscinosis
c.375-13C>A Single submitter neuronal ceroid lipofuscinosis
c.375-4del Single submitter neuronal ceroid lipofuscinosis
c.375-5C>G Single submitter neuronal ceroid lipofuscinosis
c.375-6C>A Single submitter neuronal ceroid lipofuscinosis
c.375-6C>G Single submitter neuronal ceroid lipofuscinosis
c.375-6C>T Single submitter neuronal ceroid lipofuscinosis
c.375-7C>T Single submitter neuronal ceroid lipofuscinosis
c.375-8C>T Single submitter neuronal ceroid lipofuscinosis
c.375-9C>T Single submitter neuronal ceroid lipofuscinosis
c.46+10C>T Single submitter neuronal ceroid lipofuscinosis
c.46+11C>G Single submitter neuronal ceroid lipofuscinosis
c.46+11C>T Single submitter neuronal ceroid lipofuscinosis
c.46+12C>A Single submitter neuronal ceroid lipofuscinosis
c.46+12C>T Single submitter neuronal ceroid lipofuscinosis
c.46+13G>T Single submitter neuronal ceroid lipofuscinosis
c.46+14C>T Single submitter neuronal ceroid lipofuscinosis
c.46+15C>T Single submitter neuronal ceroid lipofuscinosis
c.46+16C>A Single submitter neuronal ceroid lipofuscinosis
c.46+16C>T Single submitter neuronal ceroid lipofuscinosis
c.46+18C>T Single submitter neuronal ceroid lipofuscinosis
c.46+7A>G Single submitter neuronal ceroid lipofuscinosis
c.46+9T>C Single submitter neuronal ceroid lipofuscinosis
c.460+10T>C Single submitter neuronal ceroid lipofuscinosis
c.460+12G>A Single submitter neuronal ceroid lipofuscinosis
c.460+12G>C Single submitter neuronal ceroid lipofuscinosis
c.460+12G>T Single submitter neuronal ceroid lipofuscinosis
c.460+16T>C Single submitter neuronal ceroid lipofuscinosis
c.460+17G>A Single submitter neuronal ceroid lipofuscinosis
c.460+20T>A Single submitter neuronal ceroid lipofuscinosis
c.460+7G>A Single submitter neuronal ceroid lipofuscinosis
c.460+7G>C Single submitter neuronal ceroid lipofuscinosis
c.460+9G>A Single submitter neuronal ceroid lipofuscinosis
c.461-10C>T Single submitter neuronal ceroid lipofuscinosis
c.461-11C>G Single submitter neuronal ceroid lipofuscinosis
c.461-13G>A Single submitter neuronal ceroid lipofuscinosis
c.461-16C>T Single submitter neuronal ceroid lipofuscinosis
c.461-4C>G Single submitter neuronal ceroid lipofuscinosis
c.461-4C>T Single submitter neuronal ceroid lipofuscinosis
c.461-5C>G Single submitter neuronal ceroid lipofuscinosis
c.461-5C>T Single submitter neuronal ceroid lipofuscinosis
c.461-6C>T Single submitter neuronal ceroid lipofuscinosis
c.461-7C>T Single submitter neuronal ceroid lipofuscinosis
c.461-8C>A Single submitter neuronal ceroid lipofuscinosis
c.47-13C>T Single submitter neuronal ceroid lipofuscinosis
c.47-4C>G Single submitter neuronal ceroid lipofuscinosis
c.47-5C>G Single submitter neuronal ceroid lipofuscinosis
c.47-7C>G Single submitter neuronal ceroid lipofuscinosis
c.47-7C>T Single submitter neuronal ceroid lipofuscinosis
c.47-8T>C Single submitter neuronal ceroid lipofuscinosis
c.47-9C>T Single submitter neuronal ceroid lipofuscinosis
c.533+10T>G Single submitter neuronal ceroid lipofuscinosis
c.533+11G>A Single submitter neuronal ceroid lipofuscinosis
c.533+12G>A Single submitter neuronal ceroid lipofuscinosis
c.533+12G>T Single submitter neuronal ceroid lipofuscinosis
c.533+14G>C Single submitter neuronal ceroid lipofuscinosis
c.533+15C>T Single submitter neuronal ceroid lipofuscinosis
c.533+19del Single submitter neuronal ceroid lipofuscinosis
c.534-11C>T Single submitter neuronal ceroid lipofuscinosis
c.534-17T>C Single submitter neuronal ceroid lipofuscinosis
c.534-20T>A Single submitter neuronal ceroid lipofuscinosis
c.534-5C>T Single submitter neuronal ceroid lipofuscinosis
c.534-7T>C Single submitter neuronal ceroid lipofuscinosis
c.677+10_677+12del Single submitter neuronal ceroid lipofuscinosis
c.677+10C>A Single submitter neuronal ceroid lipofuscinosis
c.677+10C>T Single submitter neuronal ceroid lipofuscinosis
c.677+11C>T Single submitter neuronal ceroid lipofuscinosis
c.677+16_677+18del Single submitter neuronal ceroid lipofuscinosis
c.677+17C>T Single submitter neuronal ceroid lipofuscinosis
c.677+18G>A Single submitter neuronal ceroid lipofuscinosis
c.677+18G>T Single submitter neuronal ceroid lipofuscinosis
c.677+7T>G Single submitter neuronal ceroid lipofuscinosis
c.677+8G>T Single submitter neuronal ceroid lipofuscinosis
c.677+9C>A Single submitter neuronal ceroid lipofuscinosis
c.677+9C>T Single submitter neuronal ceroid lipofuscinosis
c.678-14C>T Single submitter neuronal ceroid lipofuscinosis
c.678-19G>A Single submitter neuronal ceroid lipofuscinosis
c.678-336A>T Single submitter
c.678-6T>C Single submitter neuronal ceroid lipofuscinosis
c.678-7C>T Single submitter neuronal ceroid lipofuscinosis
c.678-8A>G Single submitter neuronal ceroid lipofuscinosis
c.790+10A>G Single submitter neuronal ceroid lipofuscinosis
c.790+14A>C Single submitter neuronal ceroid lipofuscinosis
c.790+19C>G Single submitter neuronal ceroid lipofuscinosis
c.790+267dup Single submitter
c.790+288_790+292del Single submitter
c.790+7G>A Single submitter neuronal ceroid lipofuscinosis
c.790+7G>C Single submitter neuronal ceroid lipofuscinosis
c.790+9C>G Single submitter neuronal ceroid lipofuscinosis
c.790+9C>T Single submitter neuronal ceroid lipofuscinosis
c.791-11T>G Single submitter neuronal ceroid lipofuscinosis
c.791-13T>C Single submitter neuronal ceroid lipofuscinosis
c.791-15T>C Single submitter neuronal ceroid lipofuscinosis
c.791-16C>G Single submitter neuronal ceroid lipofuscinosis
c.791-20C>T Single submitter neuronal ceroid lipofuscinosis
c.791-5T>G Single submitter neuronal ceroid lipofuscinosis
c.791-6C>T Single submitter
c.791-6del Single submitter neuronal ceroid lipofuscinosis
c.791-7C>T Single submitter neuronal ceroid lipofuscinosis
c.791-8C>T Single submitter neuronal ceroid lipofuscinosis
c.791-9C>A Single submitter neuronal ceroid lipofuscinosis
c.791-9C>T Single submitter neuronal ceroid lipofuscinosis
c.837+10A>T Single submitter neuronal ceroid lipofuscinosis
c.837+13G>A Single submitter neuronal ceroid lipofuscinosis
c.837+17G>C Single submitter neuronal ceroid lipofuscinosis
c.837+8T>A Single submitter neuronal ceroid lipofuscinosis
c.837+9dup Single submitter neuronal ceroid lipofuscinosis
c.837+9G>A Single submitter neuronal ceroid lipofuscinosis
c.838-10C>T Single submitter neuronal ceroid lipofuscinosis
c.838-11G>A Single submitter neuronal ceroid lipofuscinosis
c.838-12T>C Single submitter neuronal ceroid lipofuscinosis
c.838-17T>A Single submitter neuronal ceroid lipofuscinosis
c.838-20A>T Single submitter neuronal ceroid lipofuscinosis
c.838-35C>G Single submitter
c.838-9C>T Single submitter neuronal ceroid lipofuscinosis
c.906+10G>A Single submitter neuronal ceroid lipofuscinosis
c.906+11G>A Single submitter neuronal ceroid lipofuscinosis
c.906+15C>A Single submitter neuronal ceroid lipofuscinosis
c.906+15C>G Single submitter neuronal ceroid lipofuscinosis
c.906+16T>C Single submitter neuronal ceroid lipofuscinosis
c.906+17A>G Single submitter neuronal ceroid lipofuscinosis
c.906+18G>A Single submitter neuronal ceroid lipofuscinosis
c.906+18G>C Single submitter neuronal ceroid lipofuscinosis
c.906+20A>C Single submitter neuronal ceroid lipofuscinosis
c.906+9G>C Single submitter neuronal ceroid lipofuscinosis
c.907-12dup Single submitter neuronal ceroid lipofuscinosis
c.907-12T>C Single submitter neuronal ceroid lipofuscinosis
c.907-17T>A Single submitter neuronal ceroid lipofuscinosis
c.907-18G>A Single submitter neuronal ceroid lipofuscinosis
c.907-19del Single submitter
c.907-20_907-19del Single submitter neuronal ceroid lipofuscinosis
c.907-4G>A Single submitter neuronal ceroid lipofuscinosis
c.907-7G>A Single submitter neuronal ceroid lipofuscinosis
c.962+10G>A Single submitter neuronal ceroid lipofuscinosis
c.962+11C>T Single submitter neuronal ceroid lipofuscinosis
c.962+12G>A Single submitter neuronal ceroid lipofuscinosis
c.962+18A>G Single submitter neuronal ceroid lipofuscinosis
c.962+7G>A Single submitter neuronal ceroid lipofuscinosis
c.962+8G>A Single submitter neuronal ceroid lipofuscinosis
c.963-10C>G Single submitter neuronal ceroid lipofuscinosis
c.963-10C>T Single submitter neuronal ceroid lipofuscinosis
c.963-15C>G Single submitter neuronal ceroid lipofuscinosis
c.963-15C>T Single submitter neuronal ceroid lipofuscinosis
c.963-16C>T Single submitter neuronal ceroid lipofuscinosis
c.963-17C>A Single submitter neuronal ceroid lipofuscinosis
c.963-17C>G Single submitter neuronal ceroid lipofuscinosis
c.963-20C>T Single submitter neuronal ceroid lipofuscinosis
c.963-5C>A Single submitter neuronal ceroid lipofuscinosis
c.963-6C>A Single submitter neuronal ceroid lipofuscinosis
c.963-8A>C Single submitter neuronal ceroid lipofuscinosis
c.963-8A>G Single submitter neuronal ceroid lipofuscinosis
c.-105T>A Single submitter
c.-17G>A Single submitter
c.-33C>A Single submitter

Uncertain significance 354

Showing the top 300 by review status; the full set is in the sitemap.

c.125+6T>C Multiple submitters neuronal ceroid lipofuscinosis
c.461-3C>A Multiple submitters neuronal ceroid lipofuscinosis 3
c.461-3C>T Multiple submitters neuronal ceroid lipofuscinosis
c.47-3C>T Multiple submitters neuronal ceroid lipofuscinosis
c.837+3del Multiple submitters neuronal ceroid lipofuscinosis
c.-1G>T Multiple submitters neuronal ceroid lipofuscinosis 3
c.-2C>G Multiple submitters Inborn genetic diseases
c.*29A>G Multiple submitters neuronal ceroid lipofuscinosis 3
p.Ala103Val Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ala143Thr Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ala158Pro Multiple submitters neuronal ceroid lipofuscinosis 3 ⚠
p.Ala158Thr Multiple submitters neuronal ceroid lipofuscinosis 3 ⚠
p.Ala236Val Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ala245del Multiple submitters Inborn genetic diseases
p.Ala248Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala258Val Multiple submitters Inborn genetic diseases ⚠
p.Ala388Val Multiple submitters Inborn genetic diseases ⚠
p.Ala397Thr Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Arg127Gln Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Arg250Trp Multiple submitters neuronal ceroid lipofuscinosis 3 ⚠
p.Arg255Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg272Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg338Cys Multiple submitters neuronal ceroid lipofuscinosis 3 ⚠
p.Arg338His Multiple submitters Inborn genetic diseases ⚠
p.Arg343His Multiple submitters Inborn genetic diseases ⚠
p.Arg89Gln Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Asn49Lys Multiple submitters neuronal ceroid lipofuscinosis 3 ⚠
p.Asn85His Multiple submitters Inborn genetic diseases ⚠
p.Asn93Asp Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Asn93Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp29Glu Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Asp362Asn Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Asp362Glu Multiple submitters Inborn genetic diseases ⚠
p.Cys340Tyr Multiple submitters Inborn genetic diseases ⚠
p.Cys353Phe Multiple submitters Inborn genetic diseases ⚠
p.Gln204Pro Multiple submitters retinitis pigmentosa ⚠
p.Glu17Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu257Asp Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Glu257Lys Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Gly192Glu Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Gly206Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly264Cys Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.His146Arg Multiple submitters Inborn genetic diseases ⚠
p.His146Tyr Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.His34Arg Multiple submitters Inborn genetic diseases ⚠
p.His404Tyr Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.His84Asn Multiple submitters Inborn genetic diseases ⚠
p.Ile254Thr Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ile285Val Multiple submitters inherited retinal dystrophy ⚠
p.Ile414Val Multiple submitters neuronal ceroid lipofuscinosis 3 ⚠
p.Ile82Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu121Val Multiple submitters neuronal ceroid lipofuscinosis 3 ⚠
p.Leu214Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu217Met Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Leu222Gln Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Leu313Pro Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Leu383Phe Multiple submitters Inborn genetic diseases ⚠
p.Lys66Arg Multiple submitters Inborn genetic diseases ⚠
p.Met409Val Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Phe11Ser Multiple submitters neuronal ceroid lipofuscinosis 3 ⚠
p.Phe90Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro107Ser Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Pro209Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro252Ser Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Pro259Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro287Ser Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Pro429Ser Multiple submitters neuronal ceroid lipofuscinosis 3 ⚠
p.Ser131Asn Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ser215Tyr Multiple submitters neuronal ceroid lipofuscinosis 3 ⚠
p.Ser261Leu Multiple submitters neuronal ceroid lipofuscinosis 3 ⚠
p.Ser265Ala Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ser401Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser421Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser423Leu Multiple submitters retinitis pigmentosa ⚠
p.Ser51Phe Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ser69Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser69Trp Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Thr108Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr19Ile Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Thr256Ile Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Thr345Ser Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Thr412Ala Multiple submitters neuronal ceroid lipofuscinosis 3 ⚠
p.Thr80Met Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Thr97Met Multiple submitters Inborn genetic diseases ⚠
p.Tyr176His Multiple submitters Inborn genetic diseases ⚠
p.Val130Ile Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Val148del Multiple submitters neuronal ceroid lipofuscinosis
p.Val180Met Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Val291Leu Multiple submitters Inborn genetic diseases ⚠
p.Val363Met Multiple submitters Inborn genetic diseases ⚠
p.Val374Ile Multiple submitters neuronal ceroid lipofuscinosis 3 ⚠
c.1056+5C>A Single submitter neuronal ceroid lipofuscinosis
c.1056+6A>G Single submitter neuronal ceroid lipofuscinosis
c.1057-9del Single submitter neuronal ceroid lipofuscinosis
c.1198-3C>T Single submitter neuronal ceroid lipofuscinosis
c.222+3A>T Single submitter neuronal ceroid lipofuscinosis 3
c.222+5G>C Single submitter neuronal ceroid lipofuscinosis
c.223-3T>C Single submitter neuronal ceroid lipofuscinosis
c.294+4C>T Single submitter neuronal ceroid lipofuscinosis
c.294+5G>A Single submitter neuronal ceroid lipofuscinosis
c.294+5G>T Single submitter
c.294+8_294+10inv Single submitter neuronal ceroid lipofuscinosis
c.295-3C>T Single submitter neuronal ceroid lipofuscinosis
c.46+5G>A Single submitter neuronal ceroid lipofuscinosis
c.460+3G>A Single submitter neuronal ceroid lipofuscinosis
c.533+3_533+10del Single submitter neuronal ceroid lipofuscinosis
c.533+6C>T Single submitter neuronal ceroid lipofuscinosis
c.677+5G>C Single submitter neuronal ceroid lipofuscinosis
c.837+4C>T Single submitter neuronal ceroid lipofuscinosis
c.907-3C>T Single submitter neuronal ceroid lipofuscinosis
c.962+2dup Single submitter neuronal ceroid lipofuscinosis
c.962+4A>G Single submitter neuronal ceroid lipofuscinosis
c.-112C>T Single submitter neuronal ceroid lipofuscinosis 3
c.-210G>T Single submitter neuronal ceroid lipofuscinosis 3
c.-218G>A Single submitter neuronal ceroid lipofuscinosis 3
c.-279G>C Single submitter neuronal ceroid lipofuscinosis 3
c.-364C>T Single submitter neuronal ceroid lipofuscinosis 3
c.-3G>A Single submitter
c.-77+14G>T Single submitter neuronal ceroid lipofuscinosis 3
c.*111G>T Single submitter neuronal ceroid lipofuscinosis 3
c.*187G>A Single submitter neuronal ceroid lipofuscinosis 3
c.*200A>G Single submitter neuronal ceroid lipofuscinosis 3
c.*205G>A Single submitter neuronal ceroid lipofuscinosis 3
c.*55C>A Single submitter neuronal ceroid lipofuscinosis 3
c.*58A>C Single submitter neuronal ceroid lipofuscinosis 3
c.*78G>A Single submitter neuronal ceroid lipofuscinosis 3
p.Ala103Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala135Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala136Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala196Ser Single submitter ⚠
p.Ala221Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala245Glu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala258Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala316Gly Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala316Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala316Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala328Pro Single submitter ⚠
p.Ala332Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala349Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala387Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala387Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala388Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala410Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala411Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala98Asp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala98Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg10His Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg178Ser Single submitter retinitis pigmentosa ⚠
p.Arg250Gln Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg250Pro Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg320Cys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg341Cys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg343Cys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg405Gln Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg89Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg8Gln Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn37Lys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn395Asp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn395Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn48Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn48Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn49His Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn49Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asp13Tyr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asp29Asn Single submitter ⚠
p.Asp402Asn Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asp402Gly Single submitter ⚠
p.Asp61Asn Single submitter neuronal ceroid lipofuscinosis ⚠
p.Cys134Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Cys153Tyr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Cys339Trp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Cys353Arg Single submitter ⚠
p.Cys353Tyr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Cys92Trp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gln251Pro Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gln317Arg Single submitter ⚠
p.Gln318His Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gln31Lys Single submitter Inborn genetic diseases ⚠
p.Gln352= Single submitter retinitis pigmentosa
p.Gln72del Single submitter neuronal ceroid lipofuscinosis
p.Gln72His Single submitter ⚠
p.Glu15Lys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu166Gly Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu18Asp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu18Gly Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu242Asp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu244Ala Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu244del Single submitter neuronal ceroid lipofuscinosis 3
p.Glu246Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu399Asp Single submitter ⚠
p.Gly118Asp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly154Asp Single submitter ⚠
p.Gly16Arg Single submitter ⚠
p.Gly187Glu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly189Glu Single submitter ⚠
p.Gly190Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly201Val Single submitter Inborn genetic diseases ⚠
p.Gly241Glu Single submitter Inborn genetic diseases ⚠
p.Gly264Arg Single submitter inherited retinal dystrophy ⚠
p.Gly32Val Single submitter Inborn genetic diseases ⚠
p.Gly366Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly366Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly386Ser Single submitter ⚠
p.Gly3Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly3Asp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly3Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly70Glu Single submitter neuronal ceroid lipofuscinosis ⚠
p.His120Asn Single submitter neuronal ceroid lipofuscinosis ⚠
p.His120Gln Single submitter Inborn genetic diseases ⚠
p.His120Tyr Single submitter neuronal ceroid lipofuscinosis ⚠
p.His30Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.His315Asp Single submitter neuronal ceroid lipofuscinosis ⚠
p.His34Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.His394Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.His431Tyr Single submitter neuronal ceroid lipofuscinosis ⚠
p.His84Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile105Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile111Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile133Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile133Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile378Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile396Asn Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile396Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu102Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu106His Single submitter neuronal ceroid lipofuscinosis 3 ⚠
p.Leu109Pro Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu121Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu122Val Single submitter Inborn genetic diseases ⚠
p.Leu129Pro Single submitter neuronal ceroid lipofuscinosis
p.Leu141Pro Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu141Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu164Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu170Phe Single submitter Inborn genetic diseases ⚠
p.Leu197Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu207Pro Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu224Pro Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu230Met Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu230Phe Single submitter Inborn genetic diseases ⚠
p.Leu230Trp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu253Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu269Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu27Pro Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu282_Trp283insLeu Single submitter neuronal ceroid lipofuscinosis
p.Leu306His Single submitter retinitis pigmentosa 101 ⚠
p.Leu306Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu348Pro Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu350Arg Single submitter Inborn genetic diseases ⚠
p.Leu373Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu373Val Single submitter ⚠
p.Leu398Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu425fs Single submitter Syndromic inherited retinal disease
p.Leu426Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu437Phe Single submitter ⚠
p.Leu46Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys262Glu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys66Asn Single submitter Inborn genetic diseases ⚠
p.Lys66Gln Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys66Glu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Met216Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Phe169Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Phe278Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Phe367Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Phe393Tyr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro107Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro107Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro123Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro126Leu Single submitter ⚠
p.Pro177Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro21Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro21Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro23Leu Single submitter Inborn genetic diseases ⚠
p.Pro23Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro252Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro259Gln Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro259Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro287Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro287Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro79Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro83Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser125= Single submitter neuronal ceroid lipofuscinosis
p.Ser125Asn Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser131Gly Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser145Pro Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser147Ala Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser14Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser151Asn Single submitter Inborn genetic diseases ⚠
p.Ser151Cys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser159Thr Single submitter Inborn genetic diseases ⚠
p.Ser182Cys Single submitter ⚠
p.Ser185Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser215Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser233Tyr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser247Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser247Asn Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser265Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser268Asn Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser314Asn Single submitter neuronal ceroid lipofuscinosis 3 ⚠
p.Ser333Pro Single submitter neuronal ceroid lipofuscinosis 3 ⚠
p.Ser335Pro Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser370Gly Single submitter neuronal ceroid lipofuscinosis ⚠