CTSD — 760 ClinVar variants

All ClinVar germline CTSD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 225 flagged for review →

34 Pathogenic · 18 Likely pathogenic · 38 Conflicting · 25 Benign · 23 Benign/Likely benign · 350 Likely benign · 272 Uncertain significance

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

⚑ Evidence disagreements 225

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 6

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

CTSD p.Ala337Thr Conflicting Single submitter
Inborn genetic diseases
CTSD p.Gly171Ser Conflicting Single submitter
Inborn genetic diseases
CTSD p.Pro3Leu Conflicting Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Pro88Ala Conflicting Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ser100Phe Conflicting Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Val52Ile Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 123

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

CTSD p.Ala116Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CTSD p.Ala48Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CTSD p.Arg176Lys Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Arg205His Uncertain significance Multiple submitters
Inborn genetic diseases
CTSD p.Arg266Cys Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Arg34Gln Uncertain significance Multiple submitters
Inborn genetic diseases
CTSD p.Arg411His Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Asp126Asn Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Asp387Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CTSD p.Asp45Glu Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Glu310Lys Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Gly170Ser Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Gly316Arg Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Gly362Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CTSD p.Gly391Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CTSD p.Gly81Arg Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Gly86Arg Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Ile384Val Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Leu169Val Uncertain significance Multiple submitters
Inborn genetic diseases
CTSD p.Leu412Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CTSD p.Lys253Arg Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Ser144Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CTSD p.Ser37Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CTSD p.Val211Met Uncertain significance Multiple submitters
Inborn genetic diseases
CTSD p.Val214Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CTSD p.Val318Met Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Val404Leu Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Val95Ile Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Ala116Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ala168Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ala337Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ala337Val Uncertain significance Single submitter
CTSD p.Ala361Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ala407Val Uncertain significance Single submitter
Inborn genetic diseases
CTSD p.Ala58Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ala61Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Arg205Cys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Arg205Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Arg33Cys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Arg33His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Arg399Cys Uncertain significance Single submitter
Inborn genetic diseases
CTSD p.Arg399His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Asn102His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Asn124Asp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Asn402Asp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Asn73Lys Uncertain significance Single submitter
Inborn genetic diseases
CTSD p.Asp126Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Asp196Asn Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Asp216Asn Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Asp306Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Asp97Asn Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Cys329Ser Uncertain significance Single submitter
Inborn genetic diseases
CTSD p.Cys91Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Gln185His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Gln312Lys Uncertain significance Single submitter
Inborn genetic diseases
CTSD p.Gln90Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Glu278Asp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Glu278Gln Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Glu288Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Glu324Lys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Glu38Lys Uncertain significance Single submitter
Inborn genetic diseases
CTSD p.Glu44Asp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Glu64Asp Uncertain significance Single submitter
CTSD p.Glu69Lys Uncertain significance Single submitter
CTSD p.Gly149Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Gly170Asp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Gly242Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Gly257Ala Uncertain significance Single submitter
CTSD p.Gly323Ser Uncertain significance Single submitter
Inborn genetic diseases
CTSD p.Gly369Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Gly405Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Gly41Val Uncertain significance Single submitter
CTSD p.Gly81Trp Uncertain significance Single submitter
CTSD p.His120Tyr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.His141Gln Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ile115Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ile119Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ile191Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ile206Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ile293Leu Uncertain significance Single submitter
CTSD p.Ile32Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ile47Met Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ile67Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Leu103Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Leu112Arg Uncertain significance Single submitter
Inborn genetic diseases
CTSD p.Leu218Pro Uncertain significance Single submitter
CTSD p.Leu26Met Uncertain significance Single submitter
CTSD p.Leu300Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Leu342Pro Uncertain significance Single submitter
Inborn genetic diseases
CTSD p.Leu412Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Leu71Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Lys127Arg Uncertain significance Single submitter
CTSD p.Lys173Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Lys267Gln Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Lys28Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Lys54Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Met219Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Met326Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Met326Thr Uncertain significance Single submitter
Inborn genetic diseases
CTSD p.Met326Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Met36Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Pro17Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 10
CTSD p.Pro328Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Pro88Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ser101Pro Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ser137Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ser144Trp Uncertain significance Single submitter
Inborn genetic diseases
CTSD p.Ser146Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ser152Thr Uncertain significance Single submitter
Inborn genetic diseases
CTSD p.Ser379Asn Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ser5Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Thr136Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Thr284Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Thr296Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Thr98Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Val158Met Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Val224Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Val277Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Val39Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Val39Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Val404Gly Uncertain significance Single submitter
CTSD p.Val43Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Val62Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis

Predictors split 96

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

CTSD p.Ala10Ser Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Ala18Pro Uncertain significance Multiple submitters
Inborn genetic diseases
CTSD p.Ala18Thr Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Ala239Val Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Arg392His Uncertain significance Multiple submitters
Inborn genetic diseases
CTSD p.Arg403Thr Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Arg411Cys Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Asp251Asn Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Asp45Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CTSD p.Glu408Lys Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Glu44Lys Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Gly282Arg Benign/Likely benign Multiple submitters
Inborn genetic diseases
CTSD p.Gly343Glu Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.His273Tyr Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Ile198Val Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Leu356Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CTSD p.Lys345Arg Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Lys357Glu Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Pro319Leu Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Pro328Ala Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Ser157Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CTSD p.Thr189Ile Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Thr30Met Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Thr355Met Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Thr395Ala Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Thr87Met Uncertain significance Multiple submitters
Inborn genetic diseases
CTSD p.Val277Met Uncertain significance Multiple submitters
Inborn genetic diseases
CTSD p.Val302Leu Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CTSD p.Val388Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CTSD p.Ala163Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ala166Val Conflicting Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ala192Ser Uncertain significance Single submitter
Inborn genetic diseases
CTSD p.Ala192Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ala314Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 10
CTSD p.Ala410Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ala410Pro Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Arg266His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Arg309His Conflicting Single submitter
Inborn genetic diseases
CTSD p.Arg34Trp Conflicting Single submitter
Inborn genetic diseases
CTSD p.Arg392Cys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Arg392Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Asn124Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Asn134Ser Uncertain significance Single submitter
Inborn genetic diseases
CTSD p.Asn401Ser Conflicting Single submitter
Inborn genetic diseases
CTSD p.Asp238Val Uncertain significance Single submitter
Inborn genetic diseases
CTSD p.Cys160Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Gln153Lys Uncertain significance Single submitter
Inborn genetic diseases
CTSD p.Gln220His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 10
CTSD p.Gln220Pro Uncertain significance Single submitter
neuronal ceroid lipofuscinosis 10
CTSD p.Gln360His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Glu44Val Uncertain significance Single submitter
CTSD p.Glu64Gln Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Glu64Lys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Gly257Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Gly282Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Gly323Asp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Gly346Arg Uncertain significance Single submitter
Inborn genetic diseases
CTSD p.Gly41Asp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ile24Met Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ile24Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ile338Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ile390Met Uncertain significance Single submitter
Inborn genetic diseases
CTSD p.Ile85Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Leu11Phe Uncertain significance Single submitter
Inborn genetic diseases
CTSD p.Lys127Met Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Lys173Ile Uncertain significance Single submitter
Inborn genetic diseases
CTSD p.Lys222Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Lys256Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Lys331Asn Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Lys72Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Met326Lys Uncertain significance Single submitter
Inborn genetic diseases
CTSD p.Met371Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Met373Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Met75Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Pro25Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Pro25Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Pro377Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Pro3His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Pro3Ser Uncertain significance Single submitter
CTSD p.Pro51Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Pro68Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Pro89Leu Uncertain significance Single submitter
CTSD p.Ser137Leu Conflicting Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ser148Phe Uncertain significance Single submitter
CTSD p.Ser164Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ser165Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ser359Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Ser56Pro Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Thr155Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Tyr203Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Val105Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Val132Met Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Val208Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Val224Met Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Val22Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CTSD p.Val62Met Uncertain significance Single submitter
neuronal ceroid lipofuscinosis

All CTSD variants

Pathogenic 34

p.Gln90fs Multiple submitters neuronal ceroid lipofuscinosis
p.Leu11fs Multiple submitters neuronal ceroid lipofuscinosis
p.Ala18fs Single submitter neuronal ceroid lipofuscinosis
p.Ala314fs Single submitter neuronal ceroid lipofuscinosis
p.Ala317fs Single submitter neuronal ceroid lipofuscinosis
p.Asn209fs Single submitter neuronal ceroid lipofuscinosis
p.Gln153Ter Single submitter neuronal ceroid lipofuscinosis
p.Gln220Ter Single submitter neuronal ceroid lipofuscinosis
p.Gln240Ter Single submitter neuronal ceroid lipofuscinosis
p.Gln57Ter Single submitter neuronal ceroid lipofuscinosis
p.Glu278Ter Single submitter neuronal ceroid lipofuscinosis
p.Glu352fs Single submitter neuronal ceroid lipofuscinosis
p.Glu44fs Single submitter neuronal ceroid lipofuscinosis
p.Glu64Ter Single submitter neuronal ceroid lipofuscinosis
p.Glu82Ter Single submitter neuronal ceroid lipofuscinosis
p.Gly243fs Single submitter neuronal ceroid lipofuscinosis
p.Gly303fs Single submitter neuronal ceroid lipofuscinosis
p.Gly343fs Single submitter neuronal ceroid lipofuscinosis
p.Leu285fs Single submitter neuronal ceroid lipofuscinosis
p.Lys184Ter Single submitter neuronal ceroid lipofuscinosis
p.Lys253fs Single submitter neuronal ceroid lipofuscinosis
p.Pro328_Cys329insTer Single submitter neuronal ceroid lipofuscinosis
p.Ser157fs Single submitter neuronal ceroid lipofuscinosis
p.Thr155fs Single submitter neuronal ceroid lipofuscinosis
p.Tyr150_Leu151insTer Single submitter neuronal ceroid lipofuscinosis
p.Val156fs Single submitter neuronal ceroid lipofuscinosis
p.Val174fs Single submitter neuronal ceroid lipofuscinosis
p.Val305fs Single submitter neuronal ceroid lipofuscinosis
p.Val318fs Single submitter neuronal ceroid lipofuscinosis
p.Val52fs Single submitter neuronal ceroid lipofuscinosis
c.486-12G>A No assertion criteria neuronal ceroid lipofuscinosis 10
p.Phe229Ile No assertion criteria neuronal ceroid lipofuscinosis 10
p.Trp383Cys No assertion criteria neuronal ceroid lipofuscinosis 10
p.Tyr255Ter No assertion criteria neuronal ceroid lipofuscinosis 10

Likely pathogenic 18

c.228+1G>A Single submitter neuronal ceroid lipofuscinosis
c.228+1G>T Single submitter neuronal ceroid lipofuscinosis
c.353-2A>G Single submitter neuronal ceroid lipofuscinosis
c.675_704+1dup Single submitter neuronal ceroid lipofuscinosis
c.68+1G>A Single submitter neuronal ceroid lipofuscinosis
c.69-1G>A Single submitter neuronal ceroid lipofuscinosis
c.69-2A>G Single submitter neuronal ceroid lipofuscinosis
c.704+1G>C Single submitter neuronal ceroid lipofuscinosis
c.704+1G>T Single submitter neuronal ceroid lipofuscinosis
c.824_827+30del Single submitter neuronal ceroid lipofuscinosis
c.827+2T>C Single submitter neuronal ceroid lipofuscinosis
c.828-2A>C Single submitter neuronal ceroid lipofuscinosis
c.972+1G>A Single submitter multiple epiphyseal dysplasia, Al-Gazali type
c.972+1G>C Single submitter neuronal ceroid lipofuscinosis
p.Gln90Ter Single submitter neuronal ceroid lipofuscinosis 10
p.Gly149Val Single submitter neuronal ceroid lipofuscinosis 10
p.Lys363fs Single submitter neuronal ceroid lipofuscinosis 10
p.Phe389_Ile390insMetGlyAspValPhe No assertion criteria Severe microlissencephaly

Conflicting classifications of pathogenicity 38

c.1071+12A>G Single submitter neuronal ceroid lipofuscinosis 10
c.1071+7G>A Single submitter neuronal ceroid lipofuscinosis
c.229-19G>A Single submitter neuronal ceroid lipofuscinosis
c.69-17C>A Single submitter neuronal ceroid lipofuscinosis
c.704+6C>T Single submitter neuronal ceroid lipofuscinosis
c.704+7G>A Single submitter neuronal ceroid lipofuscinosis
c.827+13T>C Single submitter neuronal ceroid lipofuscinosis
c.828-5C>T Single submitter Inborn genetic diseases
c.972+10G>A Single submitter neuronal ceroid lipofuscinosis
c.972+9C>T Single submitter neuronal ceroid lipofuscinosis
c.973-8C>A Single submitter neuronal ceroid lipofuscinosis
c.-37G>A Single submitter neuronal ceroid lipofuscinosis 10
p.Ala166Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala337Thr Single submitter Inborn genetic diseases ⚠
p.Arg309His Single submitter Inborn genetic diseases ⚠
p.Arg34Trp Single submitter Inborn genetic diseases ⚠
p.Asn401Ser Single submitter Inborn genetic diseases ⚠
p.Asp76= Single submitter neuronal ceroid lipofuscinosis
p.Gly171Ser Single submitter Inborn genetic diseases ⚠
p.Leu13= Single submitter Inborn genetic diseases
p.Leu233= Single submitter neuronal ceroid lipofuscinosis
p.Phe229del Single submitter neuronal ceroid lipofuscinosis
p.Pro25= Single submitter Inborn genetic diseases
p.Pro304= Single submitter Inborn genetic diseases
p.Pro3Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro88Ala Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro89= Single submitter Inborn genetic diseases
p.Ser100Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser137= Single submitter Inborn genetic diseases
p.Ser137Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser37= Single submitter neuronal ceroid lipofuscinosis
p.Ser37= Single submitter neuronal ceroid lipofuscinosis
p.Thr30= Single submitter Inborn genetic diseases
p.Tyr80= Single submitter Inborn genetic diseases
p.Val105= Single submitter neuronal ceroid lipofuscinosis
p.Val308= Single submitter neuronal ceroid lipofuscinosis
p.Val52Ile Single submitter Inborn genetic diseases ⚠
p.Val95= Single submitter neuronal ceroid lipofuscinosis

Benign 25

c.1072-34T>C Multiple submitters
c.228+133C>G Multiple submitters
c.353-17C>T Multiple submitters neuronal ceroid lipofuscinosis
c.472-99G>A Multiple submitters
c.69-63A>G Multiple submitters
c.704+58G>A Multiple submitters
c.705-74C>T Multiple submitters
c.827+111del Multiple submitters neuronal ceroid lipofuscinosis 10
c.827+41C>T Multiple submitters
c.828-17G>A Multiple submitters neuronal ceroid lipofuscinosis
c.-312A>G Multiple submitters
c.*19G>A Multiple submitters neuronal ceroid lipofuscinosis 10
c.*300G>A Multiple submitters neuronal ceroid lipofuscinosis 10
c.*597A>C Multiple submitters neuronal ceroid lipofuscinosis 10
c.*67A>G Multiple submitters neuronal ceroid lipofuscinosis 10
p.Ala317= Multiple submitters Inborn genetic diseases
p.Ala77= Multiple submitters Inborn genetic diseases
p.Gly282= Multiple submitters Inborn genetic diseases
p.Gly405= Multiple submitters Inborn genetic diseases
p.Thr155= Multiple submitters Inborn genetic diseases
c.229-87_229-86insCTTCAGGG Single submitter
c.472-161G>T Single submitter
c.472-199C>T Single submitter
c.69-17del Single submitter neuronal ceroid lipofuscinosis
c.704+233G>A Single submitter

Benign/Likely benign 23

c.1072-7G>A Multiple submitters neuronal ceroid lipofuscinosis
c.228+18G>T Multiple submitters neuronal ceroid lipofuscinosis
c.353-11G>A Multiple submitters neuronal ceroid lipofuscinosis
c.353-12C>T Multiple submitters Inborn genetic diseases
c.471+15G>C Multiple submitters neuronal ceroid lipofuscinosis
c.69-17C>T Multiple submitters neuronal ceroid lipofuscinosis
c.828-14_828-13del Multiple submitters neuronal ceroid lipofuscinosis
c.828-18C>T Multiple submitters neuronal ceroid lipofuscinosis
c.828-19A>C Multiple submitters neuronal ceroid lipofuscinosis
p.Ala58Val Multiple submitters Inborn genetic diseases
p.Asn210= Multiple submitters neuronal ceroid lipofuscinosis
p.Asp374= Multiple submitters neuronal ceroid lipofuscinosis
p.Gln90= Multiple submitters neuronal ceroid lipofuscinosis
p.Gly282Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly372= Multiple submitters Inborn genetic diseases
p.Lys72= Multiple submitters Inborn genetic diseases
p.Pro319= Multiple submitters Inborn genetic diseases
p.Pro51= Multiple submitters Inborn genetic diseases
p.Ser144= Multiple submitters Inborn genetic diseases
p.Ser359= Multiple submitters neuronal ceroid lipofuscinosis
p.Thr63= Multiple submitters Inborn genetic diseases
p.Thr87= Multiple submitters neuronal ceroid lipofuscinosis
p.Thr98= Multiple submitters neuronal ceroid lipofuscinosis

Likely benign 350

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

c.1071+12A>T Multiple submitters neuronal ceroid lipofuscinosis
c.1071+9G>A Multiple submitters neuronal ceroid lipofuscinosis
c.352+10G>C Multiple submitters neuronal ceroid lipofuscinosis
c.352+48A>G Multiple submitters
c.472-15T>C Multiple submitters neuronal ceroid lipofuscinosis
c.472-27G>T Multiple submitters
c.68+10C>G Multiple submitters neuronal ceroid lipofuscinosis
c.68+10C>T Multiple submitters neuronal ceroid lipofuscinosis
c.69-12C>T Multiple submitters neuronal ceroid lipofuscinosis
c.69-16G>A Multiple submitters neuronal ceroid lipofuscinosis
c.69-53T>C Multiple submitters
c.704+18C>T Multiple submitters neuronal ceroid lipofuscinosis
c.705-4C>T Multiple submitters neuronal ceroid lipofuscinosis
c.827+22C>T Multiple submitters
c.827+73C>T Multiple submitters
c.827+9T>A Multiple submitters neuronal ceroid lipofuscinosis
c.828-4G>A Multiple submitters neuronal ceroid lipofuscinosis
c.972+7G>A Multiple submitters neuronal ceroid lipofuscinosis
c.973-14G>A Multiple submitters neuronal ceroid lipofuscinosis
c.-358G>A Multiple submitters
p.Ala239= Multiple submitters neuronal ceroid lipofuscinosis
p.Ala410= Multiple submitters neuronal ceroid lipofuscinosis
p.Ala58= Multiple submitters neuronal ceroid lipofuscinosis
p.Asn209= Multiple submitters neuronal ceroid lipofuscinosis
p.Gly149= Multiple submitters Inborn genetic diseases
p.Gly170= Multiple submitters Inborn genetic diseases
p.Gly289= Multiple submitters neuronal ceroid lipofuscinosis
p.Gly386= Multiple submitters neuronal ceroid lipofuscinosis
p.Ile315= Multiple submitters neuronal ceroid lipofuscinosis
p.Ile390= Multiple submitters Inborn genetic diseases
p.Leu218= Multiple submitters neuronal ceroid lipofuscinosis
p.Leu367= Multiple submitters neuronal ceroid lipofuscinosis
p.Lys122= Multiple submitters neuronal ceroid lipofuscinosis
p.Lys184= Multiple submitters neuronal ceroid lipofuscinosis
p.Lys331= Multiple submitters neuronal ceroid lipofuscinosis
p.Lys341= Multiple submitters Inborn genetic diseases
p.Phe96= Multiple submitters neuronal ceroid lipofuscinosis
p.Pro17= Multiple submitters Inborn genetic diseases
p.Pro186= Multiple submitters neuronal ceroid lipofuscinosis
p.Pro60= Multiple submitters Inborn genetic diseases
p.Ser164= Multiple submitters neuronal ceroid lipofuscinosis
p.Ser379= Multiple submitters neuronal ceroid lipofuscinosis
p.Thr136= Multiple submitters Inborn genetic diseases
p.Tyr131= Multiple submitters Inborn genetic diseases
p.Val178= Multiple submitters neuronal ceroid lipofuscinosis
c.1071+10C>A Single submitter neuronal ceroid lipofuscinosis
c.1071+10C>T Single submitter neuronal ceroid lipofuscinosis
c.1071+13_1072-57del Single submitter neuronal ceroid lipofuscinosis
c.1071+15G>A Single submitter neuronal ceroid lipofuscinosis
c.1071+16G>A Single submitter neuronal ceroid lipofuscinosis
c.1071+16G>T Single submitter neuronal ceroid lipofuscinosis
c.1071+17G>A Single submitter neuronal ceroid lipofuscinosis
c.1071+17G>T Single submitter neuronal ceroid lipofuscinosis
c.1072-11G>A Single submitter neuronal ceroid lipofuscinosis
c.1072-11G>C Single submitter neuronal ceroid lipofuscinosis
c.1072-11G>T Single submitter neuronal ceroid lipofuscinosis
c.1072-12G>C Single submitter neuronal ceroid lipofuscinosis
c.1072-15C>G Single submitter neuronal ceroid lipofuscinosis
c.1072-17C>T Single submitter neuronal ceroid lipofuscinosis
c.1072-18C>T Single submitter neuronal ceroid lipofuscinosis
c.1072-41G>C Single submitter
c.1072-5C>T Single submitter neuronal ceroid lipofuscinosis
c.1072-6T>C Single submitter neuronal ceroid lipofuscinosis
c.1072-7G>T Single submitter neuronal ceroid lipofuscinosis
c.1072-8C>T Single submitter neuronal ceroid lipofuscinosis
c.1072-9C>T Single submitter neuronal ceroid lipofuscinosis
c.228+14C>A Single submitter neuronal ceroid lipofuscinosis
c.228+17A>G Single submitter neuronal ceroid lipofuscinosis
c.228+19C>A Single submitter neuronal ceroid lipofuscinosis
c.228+20C>A Single submitter neuronal ceroid lipofuscinosis
c.228+7A>T Single submitter neuronal ceroid lipofuscinosis
c.228+8T>C Single submitter neuronal ceroid lipofuscinosis
c.229-12G>A Single submitter neuronal ceroid lipofuscinosis
c.229-12G>C Single submitter neuronal ceroid lipofuscinosis
c.229-18del Single submitter neuronal ceroid lipofuscinosis
c.229-18G>T Single submitter neuronal ceroid lipofuscinosis
c.229-20C>T Single submitter neuronal ceroid lipofuscinosis
c.229-25C>T Single submitter
c.229-8C>T Single submitter neuronal ceroid lipofuscinosis
c.352+10G>A Single submitter neuronal ceroid lipofuscinosis
c.352+12A>G Single submitter neuronal ceroid lipofuscinosis
c.352+13C>G Single submitter neuronal ceroid lipofuscinosis
c.352+16T>C Single submitter neuronal ceroid lipofuscinosis
c.352+28C>T Single submitter
c.352+42T>C Single submitter
c.352+7C>G Single submitter neuronal ceroid lipofuscinosis
c.352+8A>T Single submitter neuronal ceroid lipofuscinosis
c.352+9C>T Single submitter neuronal ceroid lipofuscinosis
c.353-10C>T Single submitter neuronal ceroid lipofuscinosis
c.353-14G>C Single submitter neuronal ceroid lipofuscinosis
c.353-15T>C Single submitter neuronal ceroid lipofuscinosis
c.353-20C>T Single submitter neuronal ceroid lipofuscinosis
c.353-4G>A Single submitter neuronal ceroid lipofuscinosis
c.353-8C>G Single submitter neuronal ceroid lipofuscinosis
c.353-8C>T Single submitter neuronal ceroid lipofuscinosis
c.353-9C>T Single submitter neuronal ceroid lipofuscinosis
c.471+16G>A Single submitter neuronal ceroid lipofuscinosis
c.471+17C>A Single submitter neuronal ceroid lipofuscinosis
c.471+8C>T Single submitter neuronal ceroid lipofuscinosis
c.471+9C>T Single submitter neuronal ceroid lipofuscinosis
c.472-11C>G Single submitter neuronal ceroid lipofuscinosis
c.472-16_472-15del Single submitter neuronal ceroid lipofuscinosis
c.472-17T>G Single submitter neuronal ceroid lipofuscinosis
c.472-19A>C Single submitter neuronal ceroid lipofuscinosis
c.472-20G>C Single submitter neuronal ceroid lipofuscinosis
c.472-4G>C Single submitter neuronal ceroid lipofuscinosis
c.472-5T>C Single submitter neuronal ceroid lipofuscinosis
c.472-6C>A Single submitter neuronal ceroid lipofuscinosis
c.68+11_68+12del Single submitter neuronal ceroid lipofuscinosis
c.68+11del Single submitter neuronal ceroid lipofuscinosis
c.68+15G>T Single submitter neuronal ceroid lipofuscinosis
c.68+16C>T Single submitter neuronal ceroid lipofuscinosis
c.68+18G>A Single submitter neuronal ceroid lipofuscinosis
c.68+19G>A Single submitter neuronal ceroid lipofuscinosis
c.68+19G>C Single submitter neuronal ceroid lipofuscinosis
c.68+251G>C Single submitter
c.69-11G>A Single submitter neuronal ceroid lipofuscinosis
c.69-11G>C Single submitter neuronal ceroid lipofuscinosis
c.69-13C>T Single submitter neuronal ceroid lipofuscinosis
c.69-14C>T Single submitter neuronal ceroid lipofuscinosis
c.69-15A>G Single submitter neuronal ceroid lipofuscinosis
c.69-16G>C Single submitter neuronal ceroid lipofuscinosis
c.69-18C>T Single submitter neuronal ceroid lipofuscinosis
c.69-19C>T Single submitter neuronal ceroid lipofuscinosis
c.69-277G>A Single submitter
c.69-48C>T Single submitter
c.69-64C>T Single submitter
c.704+10T>C Single submitter neuronal ceroid lipofuscinosis
c.704+11G>A Single submitter neuronal ceroid lipofuscinosis
c.704+13G>A Single submitter neuronal ceroid lipofuscinosis
c.704+17C>T Single submitter neuronal ceroid lipofuscinosis
c.704+183G>A Single submitter
c.704+19T>C Single submitter neuronal ceroid lipofuscinosis
c.704+7G>T Single submitter neuronal ceroid lipofuscinosis
c.704+9G>C Single submitter neuronal ceroid lipofuscinosis
c.704+9G>T Single submitter neuronal ceroid lipofuscinosis
c.705-15C>T Single submitter neuronal ceroid lipofuscinosis
c.705-21A>T Single submitter
c.705-63_705-11del Single submitter neuronal ceroid lipofuscinosis
c.705-7C>T Single submitter neuronal ceroid lipofuscinosis
c.705-8C>T Single submitter neuronal ceroid lipofuscinosis
c.827+14_827+15delinsTT Single submitter neuronal ceroid lipofuscinosis
c.827+14G>A Single submitter neuronal ceroid lipofuscinosis
c.827+17G>A Single submitter neuronal ceroid lipofuscinosis
c.827+17G>C Single submitter neuronal ceroid lipofuscinosis
c.827+19C>G Single submitter neuronal ceroid lipofuscinosis
c.827+19C>T Single submitter neuronal ceroid lipofuscinosis
c.827+19del Single submitter neuronal ceroid lipofuscinosis
c.827+20G>A Single submitter neuronal ceroid lipofuscinosis
c.827+20G>T Single submitter neuronal ceroid lipofuscinosis
c.828-15C>G Single submitter neuronal ceroid lipofuscinosis
c.828-16C>T Single submitter neuronal ceroid lipofuscinosis
c.828-20C>T Single submitter neuronal ceroid lipofuscinosis
c.828-247_828-221del Single submitter
c.828-6C>G Single submitter neuronal ceroid lipofuscinosis
c.828-7C>T Single submitter neuronal ceroid lipofuscinosis
c.828-8C>T Single submitter neuronal ceroid lipofuscinosis
c.828-9T>G Single submitter neuronal ceroid lipofuscinosis
c.972+10_972+15del Single submitter neuronal ceroid lipofuscinosis
c.972+10_972+15dup Single submitter neuronal ceroid lipofuscinosis
c.972+12G>A Single submitter neuronal ceroid lipofuscinosis
c.972+13G>A Single submitter neuronal ceroid lipofuscinosis
c.972+14G>A Single submitter neuronal ceroid lipofuscinosis
c.972+14G>C Single submitter neuronal ceroid lipofuscinosis
c.972+14G>T Single submitter neuronal ceroid lipofuscinosis
c.972+15C>A Single submitter neuronal ceroid lipofuscinosis
c.972+15C>T Single submitter neuronal ceroid lipofuscinosis
c.972+17G>A Single submitter neuronal ceroid lipofuscinosis
c.972+18G>A Single submitter neuronal ceroid lipofuscinosis
c.972+7G>C Single submitter neuronal ceroid lipofuscinosis
c.972+9C>G Single submitter neuronal ceroid lipofuscinosis
c.973-10C>T Single submitter neuronal ceroid lipofuscinosis
c.973-12G>A Single submitter neuronal ceroid lipofuscinosis
c.973-12G>C Single submitter neuronal ceroid lipofuscinosis
c.973-13T>C Single submitter neuronal ceroid lipofuscinosis
c.973-14G>C Single submitter neuronal ceroid lipofuscinosis
c.973-15T>C Single submitter neuronal ceroid lipofuscinosis
c.973-18T>G Single submitter neuronal ceroid lipofuscinosis
c.973-20A>G Single submitter neuronal ceroid lipofuscinosis
c.973-7C>T Single submitter neuronal ceroid lipofuscinosis
c.973-9C>T Single submitter neuronal ceroid lipofuscinosis
c.-278G>A Single submitter
c.-32C>T Single submitter
c.-36G>C Single submitter
c.-40C>T Single submitter
c.-45A>G Single submitter
c.-6G>T Single submitter
c.*10C>T Single submitter
c.*11G>A Single submitter
c.*140G>T Single submitter neuronal ceroid lipofuscinosis 10
c.*14C>T Single submitter
c.*15G>A Single submitter
c.*17G>A Single submitter
c.*207TC[2] Single submitter
c.*288G>A Single submitter
c.*4C>G Single submitter
p.Ala163= Single submitter neuronal ceroid lipofuscinosis
p.Ala166= Single submitter neuronal ceroid lipofuscinosis
p.Ala166Thr Single submitter Inborn genetic diseases
p.Ala18= Single submitter neuronal ceroid lipofuscinosis
p.Ala20= Single submitter neuronal ceroid lipofuscinosis
p.Ala202= Single submitter neuronal ceroid lipofuscinosis
p.Ala268= Single submitter neuronal ceroid lipofuscinosis
p.Ala314= Single submitter neuronal ceroid lipofuscinosis
p.Ala337= Single submitter neuronal ceroid lipofuscinosis
p.Ala361= Single submitter neuronal ceroid lipofuscinosis
p.Ala407= Single submitter neuronal ceroid lipofuscinosis
p.Ala61= Single submitter neuronal ceroid lipofuscinosis
p.Arg309= Single submitter neuronal ceroid lipofuscinosis
p.Arg33= Single submitter
p.Arg392= Single submitter neuronal ceroid lipofuscinosis
p.Arg403= Single submitter neuronal ceroid lipofuscinosis
p.Asn102= Single submitter neuronal ceroid lipofuscinosis
p.Asn217= Single submitter neuronal ceroid lipofuscinosis
p.Asn402= Single submitter neuronal ceroid lipofuscinosis
p.Asp114= Single submitter neuronal ceroid lipofuscinosis
p.Asp154= Single submitter neuronal ceroid lipofuscinosis
p.Asp225= Single submitter neuronal ceroid lipofuscinosis
p.Asp236= Single submitter neuronal ceroid lipofuscinosis
p.Asp251= Single submitter neuronal ceroid lipofuscinosis
p.Asp295= Single submitter neuronal ceroid lipofuscinosis
p.Asp306= Single submitter neuronal ceroid lipofuscinosis
p.Asp387= Single submitter neuronal ceroid lipofuscinosis
p.Asp398= Single submitter neuronal ceroid lipofuscinosis
p.Cys110= Single submitter neuronal ceroid lipofuscinosis
p.Gln185= Single submitter neuronal ceroid lipofuscinosis
p.Gln2= Single submitter neuronal ceroid lipofuscinosis
p.Glu291= Single submitter neuronal ceroid lipofuscinosis
p.Glu330= Single submitter neuronal ceroid lipofuscinosis
p.Glu352= Single submitter neuronal ceroid lipofuscinosis
p.Glu38= Single submitter neuronal ceroid lipofuscinosis
p.Glu64= Single submitter neuronal ceroid lipofuscinosis
p.Glu69= Single submitter neuronal ceroid lipofuscinosis
p.Gly143= Single submitter neuronal ceroid lipofuscinosis
p.Gly171= Single submitter neuronal ceroid lipofuscinosis
p.Gly200= Single submitter neuronal ceroid lipofuscinosis
p.Gly242= Single submitter neuronal ceroid lipofuscinosis
p.Gly243= Single submitter neuronal ceroid lipofuscinosis
p.Gly257= Single submitter neuronal ceroid lipofuscinosis
p.Gly297= Single submitter neuronal ceroid lipofuscinosis
p.Gly303= Single submitter neuronal ceroid lipofuscinosis
p.Gly343= Single submitter neuronal ceroid lipofuscinosis
p.Gly362= Single submitter neuronal ceroid lipofuscinosis
p.Gly369= Single submitter neuronal ceroid lipofuscinosis
p.Gly380= Single submitter neuronal ceroid lipofuscinosis
p.Gly40= Single submitter neuronal ceroid lipofuscinosis
p.Gly50= Single submitter neuronal ceroid lipofuscinosis
p.Gly65= Single submitter neuronal ceroid lipofuscinosis
p.Gly81= Single submitter neuronal ceroid lipofuscinosis
p.His120= Single submitter neuronal ceroid lipofuscinosis
p.Ile115= Single submitter neuronal ceroid lipofuscinosis
p.Ile140= Single submitter neuronal ceroid lipofuscinosis
p.Ile191= Single submitter neuronal ceroid lipofuscinosis
p.Ile198= Single submitter neuronal ceroid lipofuscinosis
p.Ile228= Single submitter neuronal ceroid lipofuscinosis
p.Ile293= Single submitter neuronal ceroid lipofuscinosis
p.Ile327= Single submitter neuronal ceroid lipofuscinosis
p.Ile375= Single submitter neuronal ceroid lipofuscinosis
p.Ile47= Single submitter neuronal ceroid lipofuscinosis
p.Ile85= Single submitter neuronal ceroid lipofuscinosis
p.Leu103= Single submitter neuronal ceroid lipofuscinosis
p.Leu113= Single submitter neuronal ceroid lipofuscinosis
p.Leu169= Single submitter neuronal ceroid lipofuscinosis
p.Leu21= Single submitter neuronal ceroid lipofuscinosis
p.Leu212= Single submitter neuronal ceroid lipofuscinosis
p.Leu223= Single submitter neuronal ceroid lipofuscinosis
p.Leu245= Single submitter neuronal ceroid lipofuscinosis
p.Leu247= Single submitter neuronal ceroid lipofuscinosis
p.Leu259= Single submitter neuronal ceroid lipofuscinosis
p.Leu283= Single submitter neuronal ceroid lipofuscinosis
p.Leu311= Single submitter neuronal ceroid lipofuscinosis
p.Leu335= Single submitter neuronal ceroid lipofuscinosis
p.Leu349= Single submitter neuronal ceroid lipofuscinosis
p.Leu356= Single submitter neuronal ceroid lipofuscinosis
p.Leu382= Single submitter neuronal ceroid lipofuscinosis
p.Leu412= Single submitter neuronal ceroid lipofuscinosis
p.Leu9= Single submitter neuronal ceroid lipofuscinosis
p.Lys222= Single submitter neuronal ceroid lipofuscinosis
p.Lys253= Single submitter neuronal ceroid lipofuscinosis
p.Lys256= Single submitter neuronal ceroid lipofuscinosis
p.Lys28= Single submitter neuronal ceroid lipofuscinosis
p.Lys54= Single submitter neuronal ceroid lipofuscinosis
p.Phe179= Single submitter neuronal ceroid lipofuscinosis
p.Phe190= Single submitter neuronal ceroid lipofuscinosis
p.Phe195= Single submitter neuronal ceroid lipofuscinosis
p.Phe215= Single submitter neuronal ceroid lipofuscinosis
p.Phe231= Single submitter neuronal ceroid lipofuscinosis
p.Phe406= Single submitter neuronal ceroid lipofuscinosis
p.Phe92= Single submitter neuronal ceroid lipofuscinosis
p.Pro106= Single submitter neuronal ceroid lipofuscinosis
p.Pro213= Single submitter neuronal ceroid lipofuscinosis
p.Pro328= Single submitter neuronal ceroid lipofuscinosis
p.Pro336= Single submitter neuronal ceroid lipofuscinosis
p.Pro351= Single submitter neuronal ceroid lipofuscinosis
p.Pro376= Single submitter neuronal ceroid lipofuscinosis
p.Pro377= Single submitter neuronal ceroid lipofuscinosis
p.Pro68= Single submitter neuronal ceroid lipofuscinosis
p.Pro8= Single submitter neuronal ceroid lipofuscinosis
p.Pro88= Single submitter neuronal ceroid lipofuscinosis
p.Pro8Leu Single submitter Inborn genetic diseases

Uncertain significance 272

c.828-3C>A Multiple submitters neuronal ceroid lipofuscinosis
c.*210C>G Multiple submitters neuronal ceroid lipofuscinosis 10
p.Ala10Ser Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ala116Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala18Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala18Thr Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ala239Val Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ala48Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg176Lys Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Arg205His Multiple submitters Inborn genetic diseases ⚠
p.Arg266Cys Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Arg34Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg392His Multiple submitters Inborn genetic diseases ⚠
p.Arg403Thr Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Arg411Cys Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Arg411His Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Asp126Asn Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Asp251Asn Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Asp387Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp45Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp45Glu Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Glu310Lys Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Glu408Lys Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Glu44Lys Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Gly170Ser Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Gly316Arg Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Gly343Glu Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Gly362Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly391Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly81Arg Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Gly86Arg Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.His273Tyr Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ile198Val Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ile384Val Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Leu169Val Multiple submitters Inborn genetic diseases ⚠
p.Leu356Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu412Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys253Arg Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Lys345Arg Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Lys357Glu Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Pro319Leu Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Pro328Ala Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ser144Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser157= Multiple submitters Inborn genetic diseases
p.Ser157Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser37Leu Multiple submitters Inborn genetic diseases ⚠
p.Thr189Ile Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Thr30Met Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Thr355Met Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Thr395Ala Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Thr87Met Multiple submitters Inborn genetic diseases ⚠
p.Val211Met Multiple submitters Inborn genetic diseases ⚠
p.Val214Ile Multiple submitters Inborn genetic diseases ⚠
p.Val277Met Multiple submitters Inborn genetic diseases ⚠
p.Val302Leu Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Val318Met Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Val388Ile Multiple submitters Inborn genetic diseases ⚠
p.Val404Leu Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Val95Ile Multiple submitters neuronal ceroid lipofuscinosis ⚠
c.1071+6C>T Single submitter neuronal ceroid lipofuscinosis
c.1072-1G>A Single submitter neuronal ceroid lipofuscinosis
c.353-6G>A Single submitter neuronal ceroid lipofuscinosis
c.353-7G>A Single submitter neuronal ceroid lipofuscinosis
c.471+6T>G Single submitter neuronal ceroid lipofuscinosis
c.68+5A>C Single submitter neuronal ceroid lipofuscinosis
c.68+6G>A Single submitter neuronal ceroid lipofuscinosis
c.69-12C>A Single submitter neuronal ceroid lipofuscinosis
c.704+5del Single submitter Inborn genetic diseases
c.704+5G>A Single submitter
c.704+6C>A Single submitter neuronal ceroid lipofuscinosis
c.705-3T>G Single submitter
c.827+3G>A Single submitter neuronal ceroid lipofuscinosis
c.827+5G>A Single submitter neuronal ceroid lipofuscinosis
c.828-19_828-18delinsCT Single submitter neuronal ceroid lipofuscinosis
c.972+4_972+5dup Single submitter neuronal ceroid lipofuscinosis
c.972+4A>G Single submitter neuronal ceroid lipofuscinosis
c.972+6C>T Single submitter neuronal ceroid lipofuscinosis
c.-3G>T Single submitter neuronal ceroid lipofuscinosis 10
c.-47A>G Single submitter neuronal ceroid lipofuscinosis 10
c.*117C>T Single submitter neuronal ceroid lipofuscinosis 10
c.*130G>A Single submitter neuronal ceroid lipofuscinosis 10
c.*133G>A Single submitter neuronal ceroid lipofuscinosis 10
c.*200C>G Single submitter neuronal ceroid lipofuscinosis 10
c.*330G>T Single submitter neuronal ceroid lipofuscinosis 10
c.*342C>T Single submitter neuronal ceroid lipofuscinosis 10
c.*356C>G Single submitter neuronal ceroid lipofuscinosis 10
c.*358C>T Single submitter neuronal ceroid lipofuscinosis 10
c.*375A>G Single submitter neuronal ceroid lipofuscinosis 10
c.*390G>A Single submitter neuronal ceroid lipofuscinosis 10
c.*398G>A Single submitter neuronal ceroid lipofuscinosis 10
c.*403C>T Single submitter neuronal ceroid lipofuscinosis 10
c.*494C>T Single submitter neuronal ceroid lipofuscinosis 10
c.*509C>T Single submitter neuronal ceroid lipofuscinosis 10
c.*555C>A Single submitter neuronal ceroid lipofuscinosis 10
c.*574C>T Single submitter neuronal ceroid lipofuscinosis 10
c.*58C>T Single submitter neuronal ceroid lipofuscinosis 10
c.*651C>T Single submitter neuronal ceroid lipofuscinosis 10
c.*654C>T Single submitter neuronal ceroid lipofuscinosis 10
c.*694G>A Single submitter neuronal ceroid lipofuscinosis 10
c.*736C>G Single submitter neuronal ceroid lipofuscinosis 10
c.*98G>A Single submitter neuronal ceroid lipofuscinosis 10
p.Ala116Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala163Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala168Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala192Ser Single submitter Inborn genetic diseases ⚠
p.Ala192Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala314Thr Single submitter neuronal ceroid lipofuscinosis 10 ⚠
p.Ala337Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala337Val Single submitter ⚠
p.Ala361Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala407Val Single submitter Inborn genetic diseases ⚠
p.Ala410Gly Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala410Pro Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala58Glu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala61Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg205Cys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg205Gly Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg266His Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg33Cys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg33His Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg392Cys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg392Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg399Cys Single submitter Inborn genetic diseases ⚠
p.Arg399His Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn102His Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn124Asp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn124Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn134Ser Single submitter Inborn genetic diseases ⚠
p.Asn402Asp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn402del Single submitter neuronal ceroid lipofuscinosis
p.Asn73Lys Single submitter Inborn genetic diseases ⚠
p.Asp126Glu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asp196Asn Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asp216Asn Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asp238Val Single submitter Inborn genetic diseases ⚠
p.Asp306Glu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asp97Asn Single submitter neuronal ceroid lipofuscinosis ⚠
p.Cys160Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Cys329Ser Single submitter Inborn genetic diseases ⚠
p.Cys91Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gln153Lys Single submitter Inborn genetic diseases ⚠
p.Gln185His Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gln220His Single submitter neuronal ceroid lipofuscinosis 10 ⚠
p.Gln220Pro Single submitter neuronal ceroid lipofuscinosis 10 ⚠
p.Gln312Lys Single submitter Inborn genetic diseases ⚠
p.Gln360His Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gln90Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu278_Val279insGlu Single submitter neuronal ceroid lipofuscinosis
p.Glu278Asp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu278Gln Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu288Gly Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu324Lys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu38Lys Single submitter Inborn genetic diseases ⚠
p.Glu44Asp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu44Val Single submitter ⚠
p.Glu64Asp Single submitter ⚠
p.Glu64Gln Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu64Lys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu69Lys Single submitter ⚠
p.Gly149Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly170Asp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly187= Single submitter
p.Gly242Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly257Ala Single submitter ⚠
p.Gly257Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly282Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly303_Pro304del Single submitter neuronal ceroid lipofuscinosis
p.Gly303_Val305del Single submitter neuronal ceroid lipofuscinosis
p.Gly323= Single submitter neuronal ceroid lipofuscinosis
p.Gly323Asp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly323Ser Single submitter Inborn genetic diseases ⚠
p.Gly346Arg Single submitter Inborn genetic diseases ⚠
p.Gly369Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly405Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly41Asp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly41Val Single submitter ⚠
p.Gly81Trp Single submitter ⚠
p.His120Tyr Single submitter neuronal ceroid lipofuscinosis ⚠
p.His141Gln Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile115Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile119Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile191Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile206Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile24Met Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile24Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile293Leu Single submitter ⚠
p.Ile32Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile338Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile390Met Single submitter Inborn genetic diseases ⚠
p.Ile47Met Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile67Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile85Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu103Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu112Arg Single submitter Inborn genetic diseases ⚠
p.Leu11Phe Single submitter Inborn genetic diseases ⚠
p.Leu218Pro Single submitter ⚠
p.Leu26Met Single submitter ⚠
p.Leu300Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu342Pro Single submitter Inborn genetic diseases ⚠
p.Leu412Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu71Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys127Arg Single submitter ⚠
p.Lys127Met Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys173Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys173Ile Single submitter Inborn genetic diseases ⚠
p.Lys222Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys256Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys267Gln Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys28Glu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys331Asn Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys54Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys72Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Met1_Gln2insAla Single submitter
p.Met1Val Single submitter neuronal ceroid lipofuscinosis
p.Met219Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Met326Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Met326Lys Single submitter Inborn genetic diseases ⚠
p.Met326Thr Single submitter Inborn genetic diseases ⚠
p.Met326Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Met36Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Met371Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Met373Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Met75Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Phe231del Single submitter neuronal ceroid lipofuscinosis
p.Pro17Ser Single submitter neuronal ceroid lipofuscinosis 10 ⚠
p.Pro25Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro25Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro328Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro377Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro381fs Single submitter neuronal ceroid lipofuscinosis
p.Pro3His Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro3Ser Single submitter ⚠
p.Pro51Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro68Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro88Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro89Leu Single submitter ⚠
p.Ser101Pro Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser137Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser144Trp Single submitter Inborn genetic diseases ⚠
p.Ser146Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser148Phe Single submitter ⚠
p.Ser152Thr Single submitter Inborn genetic diseases ⚠
p.Ser164Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser165Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser230del Single submitter neuronal ceroid lipofuscinosis
p.Ser359Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser379Asn Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser56Pro Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser5Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr136Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr155Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr284Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr296Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr98Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Trp383fs Single submitter neuronal ceroid lipofuscinosis
p.Tyr203Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val105Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val132Met Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val156Met Single submitter neuronal ceroid lipofuscinosis
p.Val158Met Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val208Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val224Glu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val224Met Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val22Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val277Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val302= Single submitter neuronal ceroid lipofuscinosis
p.Val39Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val39Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val404Gly Single submitter ⚠
p.Val43Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val62Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val62Met Single submitter neuronal ceroid lipofuscinosis ⚠