DNAJC5 — 403 ClinVar variants

All ClinVar germline DNAJC5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 94 flagged for review →

4 Pathogenic · 15 Conflicting · 54 Benign · 25 Benign/Likely benign · 129 Likely benign · 176 Uncertain significance

Full DNAJC5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 94

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 3

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

DNAJC5 p.Ala140Val Conflicting Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Ala63Val Conflicting Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Pro175Leu Conflicting Single submitter
ceroid lipofuscinosis, neuronal, 4 (Kufs type)

Predictors lean, ClinVar uncertain 49

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

DNAJC5 p.Ala176Val Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
DNAJC5 p.Ala63Thr Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
DNAJC5 p.Arg164Lys Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
DNAJC5 p.Arg36Pro Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
DNAJC5 p.Asn50Thr Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
DNAJC5 p.Asp77Tyr Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
DNAJC5 p.Leu20Phe Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
DNAJC5 p.Pro170Leu Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
DNAJC5 p.Thr146Met Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJC5 p.Ala108Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Ala178Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Ala26Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Ala53Val Uncertain significance Single submitter
DNAJC5 p.Ala70Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Arg36Gln Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Arg36Trp Uncertain significance Single submitter
DNAJC5 p.Arg7Cys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Arg7His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Asn198Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Asn25Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Asn47Lys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Asp162Glu Uncertain significance Single submitter
Inborn genetic diseases
DNAJC5 p.Asp29Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Asp77Asn Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Cys124Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Gln160Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Glu144Asp Uncertain significance Single submitter
DNAJC5 p.Glu153Lys Uncertain significance Single submitter
DNAJC5 p.Glu163Gln Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Glu180Lys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Glu88Asp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Glu88Lys Uncertain significance Single submitter
Inborn genetic diseases
DNAJC5 p.Gly134Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Gly196Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Gly80Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.His193Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Ile173Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Ile173Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Lys107Asn Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Lys107Gln Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Lys24Gln Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Lys24Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Lys33Gln Uncertain significance Single submitter
ceroid lipofuscinosis, neuronal, 4 (Kufs type)
DNAJC5 p.Phe112Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Ser81Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Thr146Ala Uncertain significance Single submitter
DNAJC5 p.Thr27Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Tyr76His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Val86Met Uncertain significance Single submitter
neuronal ceroid lipofuscinosis

Predictors split 42

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

DNAJC5 p.Ala54Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJC5 p.Ala54Val Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
DNAJC5 p.Asn130Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJC5 p.Asp3Gly Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
DNAJC5 p.Gly114Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJC5 p.Gly143Ala Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJC5 p.Gly196Arg Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
DNAJC5 p.His189Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJC5 p.Ser161Cys Uncertain significance Multiple submitters
ceroid lipofuscinosis, neuronal, 4 (Kufs type)
DNAJC5 p.Ser188Phe Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJC5 p.Thr11Ala Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
DNAJC5 p.Thr68Met Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJC5 p.Val150Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJC5 p.Val150Met Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
DNAJC5 p.Ala65Ser Conflicting Single submitter
Inborn genetic diseases
DNAJC5 p.Ala65Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Arg5Lys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Asn25Lys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Asn62Lys Uncertain significance Single submitter
DNAJC5 p.Asp29Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Asp3His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Asp49Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Gln174His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Glu144Lys Uncertain significance Single submitter
DNAJC5 p.Glu14Asp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Glu163Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.His18Asn Uncertain significance Single submitter
DNAJC5 p.His18Asp Likely benign Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.His18Tyr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Ile171Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Ile31Val Uncertain significance Single submitter
DNAJC5 p.Leu101Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Leu116Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Lys41Arg Conflicting Single submitter
ceroid lipofuscinosis, neuronal, 4 (Kufs type)
DNAJC5 p.Lys78Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Pro141Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Pro152Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Thr167Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Thr169Met Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Thr185Ile Likely benign Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Thr71Pro Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
DNAJC5 p.Val19Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis

All DNAJC5 variants

Pathogenic 4

p.Leu115Arg Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
p.Leu116del Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
p.Cys124_Cys133dup Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
p.Leu116Arg Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)

Conflicting classifications of pathogenicity 15

c.*158A>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*853C>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
p.Ala140Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala54= Single submitter neuronal ceroid lipofuscinosis
p.Ala63Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala65Ser Single submitter Inborn genetic diseases ⚠
p.Asn25= Single submitter Inborn genetic diseases
p.Asp168= Single submitter Inborn genetic diseases
p.Cys113= Single submitter neuronal ceroid lipofuscinosis
p.Gly143= Single submitter neuronal ceroid lipofuscinosis
p.Lys41Arg Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type) ⚠
p.Phe148= Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
p.Pro175Leu Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type) ⚠
p.Pro51= Single submitter neuronal ceroid lipofuscinosis
p.Thr146= Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)

Benign 54

c.107+159G>A Multiple submitters
c.321+20C>T Multiple submitters neuronal ceroid lipofuscinosis
c.321+73G>A Multiple submitters
c.322-10C>T Multiple submitters neuronal ceroid lipofuscinosis
c.-12+20G>A Multiple submitters
c.-12+43G>A Multiple submitters
c.*1106T>G Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*2701C>T Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*2790C>T Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*2912C>T Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*4007G>C Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*4070C>G Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
p.Pro48= Multiple submitters Inborn genetic diseases
c.108-157C>T Single submitter
c.108-266C>T Single submitter
c.321+116T>A Single submitter
c.321+159_321+160insGTCACTCCTGCCGTGCGGGCG Single submitter
c.321+159A>G Single submitter
c.321+185_321+210dup Single submitter
c.321+240C>T Single submitter
c.322-3dup Single submitter neuronal ceroid lipofuscinosis
c.-140GCC[10] Single submitter
c.-140GCC[8] Single submitter
c.*1079T>C Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*1183G>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*1342G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*13C>G Single submitter
c.*1433G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*1556A>G Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*1604C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*1630C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*1643T>C Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*1820C>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*1936T>C Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*195G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*2039C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*2563A>C Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*2878T>C Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*3269C>G Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*3413A>G Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*3432G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*3670A>G Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*4006C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*4065G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*4129G>C Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*4131C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*4385A>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*727C>G Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*728G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*817C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*853C>G Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*895C>G Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*909G>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
p.Thr167= Single submitter

Benign/Likely benign 25

c.107+10C>T Multiple submitters neuronal ceroid lipofuscinosis
c.107+12A>G Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.108-3C>T Multiple submitters neuronal ceroid lipofuscinosis
c.494-17G>A Multiple submitters neuronal ceroid lipofuscinosis
c.*1235C>T Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*1303C>T Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*1364C>T Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*1442A>G Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*1648C>T Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*2208C>T Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*2218A>G Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*2601C>T Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*2711G>A Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*2723A>G Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*2725G>A Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*3204C>T Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*4117C>T Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*4300C>T Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*727C>A Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*750G>T Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
p.Asn94= Multiple submitters Inborn genetic diseases
p.Pro152= Multiple submitters neuronal ceroid lipofuscinosis
p.Pro44= Multiple submitters Inborn genetic diseases
p.Ser15= Multiple submitters Inborn genetic diseases
p.Tyr76= Multiple submitters Inborn genetic diseases

Likely benign 129

c.108-62C>T Multiple submitters
c.108-64C>T Multiple submitters
c.321+14G>A Multiple submitters neuronal ceroid lipofuscinosis
c.321+9G>A Multiple submitters neuronal ceroid lipofuscinosis
c.322-35G>A Multiple submitters
c.322-5C>A Multiple submitters neuronal ceroid lipofuscinosis
c.493+22C>T Multiple submitters
c.494-18T>C Multiple submitters neuronal ceroid lipofuscinosis
c.*3995A>G Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
p.Ala108= Multiple submitters neuronal ceroid lipofuscinosis
p.Ala140= Multiple submitters neuronal ceroid lipofuscinosis
p.Ala63= Multiple submitters neuronal ceroid lipofuscinosis
p.Asp187= Multiple submitters Inborn genetic diseases
p.Asp69= Multiple submitters neuronal ceroid lipofuscinosis
p.Ile171= Multiple submitters Inborn genetic diseases
p.Leu22= Multiple submitters neuronal ceroid lipofuscinosis
p.Leu9= Multiple submitters neuronal ceroid lipofuscinosis
p.Lys33= Multiple submitters neuronal ceroid lipofuscinosis
p.Ser102= Multiple submitters neuronal ceroid lipofuscinosis
p.Ser177= Multiple submitters neuronal ceroid lipofuscinosis
p.Thr169= Multiple submitters neuronal ceroid lipofuscinosis
p.Tyr149= Multiple submitters Inborn genetic diseases
p.Tyr79= Multiple submitters neuronal ceroid lipofuscinosis
p.Tyr85= Multiple submitters neuronal ceroid lipofuscinosis
c.107+115G>A Single submitter
c.107+15G>A Single submitter neuronal ceroid lipofuscinosis
c.108-61G>A Single submitter
c.321+14G>C Single submitter neuronal ceroid lipofuscinosis
c.321+158_321+159insGCCCG Single submitter
c.321+160_321+203del Single submitter
c.321+180_321+181insAGGCGCCCGAGTCACTCCTGCCGTGC Single submitter
c.321+210_321+211insGCCCG Single submitter
c.321+211_321+212insGTCACTCCTGCCGTGCGGGCG Single submitter
c.321+211A>G Single submitter
c.321+38_321+63del Single submitter neuronal ceroid lipofuscinosis
c.321+38_321+63dup Single submitter neuronal ceroid lipofuscinosis
c.321+90_321+141del Single submitter neuronal ceroid lipofuscinosis
c.322-13C>T Single submitter neuronal ceroid lipofuscinosis
c.322-15_322-14delinsAC Single submitter neuronal ceroid lipofuscinosis
c.322-17C>T Single submitter neuronal ceroid lipofuscinosis
c.322-18_322-16del Single submitter neuronal ceroid lipofuscinosis
c.322-4C>A Single submitter neuronal ceroid lipofuscinosis
c.322-4C>G Single submitter neuronal ceroid lipofuscinosis
c.322-5C>G Single submitter neuronal ceroid lipofuscinosis
c.322-7C>T Single submitter neuronal ceroid lipofuscinosis
c.322-9T>A Single submitter neuronal ceroid lipofuscinosis
c.493+10C>T Single submitter neuronal ceroid lipofuscinosis
c.493+11G>A Single submitter neuronal ceroid lipofuscinosis
c.493+11G>C Single submitter neuronal ceroid lipofuscinosis
c.493+17G>C Single submitter neuronal ceroid lipofuscinosis
c.493+19G>A Single submitter neuronal ceroid lipofuscinosis
c.493+20C>A Single submitter neuronal ceroid lipofuscinosis
c.493+22del Single submitter neuronal ceroid lipofuscinosis
c.493+8C>T Single submitter neuronal ceroid lipofuscinosis
c.494-15G>A Single submitter neuronal ceroid lipofuscinosis
c.494-16T>A Single submitter neuronal ceroid lipofuscinosis
c.494-16T>C Single submitter
c.494-19C>T Single submitter neuronal ceroid lipofuscinosis
c.494-20C>T Single submitter neuronal ceroid lipofuscinosis
c.-11-9T>C Single submitter
c.-12+125G>C Single submitter
c.-12+12G>T Single submitter
c.-21_-14del Single submitter
c.-35GCGG[5] Single submitter
c.-45C>G Single submitter
c.-59CGGAGCCG[3] Single submitter
c.*1197_*1249del Single submitter
c.*18G>A Single submitter
c.*3629A>G Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*373G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
p.Ala176= Single submitter neuronal ceroid lipofuscinosis
p.Ala186= Single submitter neuronal ceroid lipofuscinosis
p.Ala53= Single submitter neuronal ceroid lipofuscinosis
p.Ala87= Single submitter neuronal ceroid lipofuscinosis
p.Arg7= Single submitter
p.Asn50= Single submitter neuronal ceroid lipofuscinosis
p.Asn62= Single submitter neuronal ceroid lipofuscinosis
p.Asp162= Single submitter neuronal ceroid lipofuscinosis
p.Asp195= Single submitter neuronal ceroid lipofuscinosis
p.Asp29= Single submitter
p.Asp3= Single submitter neuronal ceroid lipofuscinosis
p.Asp49= Single submitter neuronal ceroid lipofuscinosis
p.Asp77= Single submitter neuronal ceroid lipofuscinosis
p.Cys122= Single submitter neuronal ceroid lipofuscinosis
p.Cys123= Single submitter neuronal ceroid lipofuscinosis
p.Cys133= Single submitter neuronal ceroid lipofuscinosis
p.Gln160= Single submitter neuronal ceroid lipofuscinosis
p.Gln4= Single submitter
p.Gln6= Single submitter neuronal ceroid lipofuscinosis
p.Glu147= Single submitter neuronal ceroid lipofuscinosis
p.Gly114= Single submitter neuronal ceroid lipofuscinosis
p.Gly13= Single submitter neuronal ceroid lipofuscinosis
p.His18= Single submitter neuronal ceroid lipofuscinosis
p.His18Asp Single submitter neuronal ceroid lipofuscinosis ⚠
p.His64= Single submitter neuronal ceroid lipofuscinosis
p.Ile75= Single submitter neuronal ceroid lipofuscinosis
p.Leu101= Single submitter neuronal ceroid lipofuscinosis
p.Leu109= Single submitter neuronal ceroid lipofuscinosis
p.Leu125= Single submitter neuronal ceroid lipofuscinosis
p.Leu16= Single submitter neuronal ceroid lipofuscinosis
p.Leu20= Single submitter neuronal ceroid lipofuscinosis
p.Leu82= Single submitter neuronal ceroid lipofuscinosis
p.Leu84= Single submitter Inborn genetic diseases
p.Lys139= Single submitter neuronal ceroid lipofuscinosis
p.Lys32= Single submitter neuronal ceroid lipofuscinosis
p.Lys37= Single submitter neuronal ceroid lipofuscinosis
p.Lys56= Single submitter neuronal ceroid lipofuscinosis
p.Lys58= Single submitter neuronal ceroid lipofuscinosis
p.Phe112= Single submitter neuronal ceroid lipofuscinosis
p.Phe99= Single submitter neuronal ceroid lipofuscinosis
p.Pro170= Single submitter neuronal ceroid lipofuscinosis
p.Pro175= Single submitter neuronal ceroid lipofuscinosis
p.Pro190= Single submitter neuronal ceroid lipofuscinosis
p.Ser151= Single submitter neuronal ceroid lipofuscinosis
p.Ser161= Single submitter neuronal ceroid lipofuscinosis
p.Ser81= Single submitter neuronal ceroid lipofuscinosis
p.Thr117= Single submitter neuronal ceroid lipofuscinosis
p.Thr179= Single submitter neuronal ceroid lipofuscinosis
p.Thr185= Single submitter neuronal ceroid lipofuscinosis
p.Thr185Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr68= Single submitter neuronal ceroid lipofuscinosis
p.Thr71= Single submitter neuronal ceroid lipofuscinosis
p.Tyr120= Single submitter neuronal ceroid lipofuscinosis
p.Tyr42= Single submitter neuronal ceroid lipofuscinosis
p.Val111= Single submitter neuronal ceroid lipofuscinosis
p.Val150= Single submitter
p.Val172= Single submitter neuronal ceroid lipofuscinosis
p.Val19= Single submitter neuronal ceroid lipofuscinosis
p.Val95= Single submitter neuronal ceroid lipofuscinosis

Uncertain significance 176

c.-109A>G Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.-11-2A>G Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type)
p.Ala176Val Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ala54Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala54Val Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ala63Thr Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Arg164Lys Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Arg36Pro Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Asn130Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn50Thr Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Asp3Gly Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Asp77Tyr Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Cys133_Gly134insLeuCysCysCysPheAsnCysCysCys Multiple submitters
p.Gly114Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly143Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly196Arg Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.His189Tyr Multiple submitters Inborn genetic diseases ⚠
p.Leu20Phe Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Pro170Leu Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ser161Cys Multiple submitters ceroid lipofuscinosis, neuronal, 4 (Kufs type) ⚠
p.Ser188Phe Multiple submitters Inborn genetic diseases ⚠
p.Thr11Ala Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Thr146Met Multiple submitters Inborn genetic diseases ⚠
p.Thr68Met Multiple submitters Inborn genetic diseases ⚠
p.Val150Leu Multiple submitters Inborn genetic diseases ⚠
p.Val150Met Multiple submitters neuronal ceroid lipofuscinosis ⚠
c.107+4A>C Single submitter neuronal ceroid lipofuscinosis
c.107+8G>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.108-6T>G Single submitter
c.321+19_321+20insTGTGCGGGCACCCGAGTCACTCCTGCCGTGCGGGCACCCGAGTCTCTCCTGC Single submitter neuronal ceroid lipofuscinosis
c.321+37_321+38insTCTCCTGCCGTGCGGGCACCCGAGTCACTCCTGCCGTGCGGGCACCCGAGTCACTCCTGCCGTGCGGGCACCCGAGTC Single submitter neuronal ceroid lipofuscinosis
c.321+8C>T Single submitter neuronal ceroid lipofuscinosis
c.322-3C>A Single submitter neuronal ceroid lipofuscinosis
c.493+1dup Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.-12+1_-12+28del Single submitter
c.-12+11T>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.-12+15G>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.-185G>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.-186C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.-194C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.-89C>G Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.-95G>C Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*1137A>G Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*1182C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*1220G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*1304G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*135C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*1391G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*1391G>C Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*1557T>G Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*177T>C Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*1836C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*1873C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*1893C>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*1895C>G Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*1915C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*1927G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*1934T>G Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*2171G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*2191G>C Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*2385G>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*243G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*2482G>C Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*2545C>G Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*2633G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*273C>G Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*274C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*276C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*2849A>G Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*286G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*2913G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*2933C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*2980C>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*2983C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*298C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*2993C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*3009G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*3116T>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*3184G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*3213G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*3215C>G Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*3224C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*322G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*3239C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*3252G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*3375C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*3480G>C Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*3550C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*3608G>C Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*3839G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*3870G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*4036G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*4057C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*4070C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*412C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*4253C>G Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*4317G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*4375C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*4387C>G Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*458G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*486G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*66C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*686C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*736G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*80A>G Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*853C>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*944A>T Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
c.*948G>A Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type)
p.Ala108Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala178Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala26Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala53Val Single submitter ⚠
p.Ala65Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala70Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg36= Single submitter neuronal ceroid lipofuscinosis
p.Arg36Gln Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg36Trp Single submitter ⚠
p.Arg5Lys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg7Cys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg7His Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn198Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn25Lys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn25Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn47Lys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn62Lys Single submitter ⚠
p.Asp162Glu Single submitter Inborn genetic diseases ⚠
p.Asp29Glu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asp29Gly Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asp3His Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asp49Glu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asp77Asn Single submitter neuronal ceroid lipofuscinosis ⚠
p.Cys124Gly Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gln160Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gln174His Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gln174Ter Single submitter neuronal ceroid lipofuscinosis
p.Glu144Asp Single submitter ⚠
p.Glu144Lys Single submitter ⚠
p.Glu14Asp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu153Lys Single submitter ⚠
p.Glu163Gln Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu163Gly Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu180Lys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu88Asp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu88Lys Single submitter Inborn genetic diseases ⚠
p.Gly134Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly196Glu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly80Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.His18Asn Single submitter ⚠
p.His18Tyr Single submitter neuronal ceroid lipofuscinosis ⚠
p.His193Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile171Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile173Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile173Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile31Val Single submitter ⚠
p.Leu101Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu116Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys107Asn Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys107Gln Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys24Gln Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys24Glu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys33Gln Single submitter ceroid lipofuscinosis, neuronal, 4 (Kufs type) ⚠
p.Lys78Glu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Phe112Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro141Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro152Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser15Ter Single submitter
p.Ser81Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr146Ala Single submitter ⚠
p.Thr146Leu Single submitter neuronal ceroid lipofuscinosis
p.Thr167Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr169Met Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr27Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr71Pro Single submitter neuronal ceroid lipofuscinosis ⚠
p.Tyr76His Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val19Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val86Met Single submitter neuronal ceroid lipofuscinosis ⚠