CLN6 — 742 ClinVar variants

All ClinVar germline CLN6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 229 flagged for review →

49 Pathogenic · 17 Pathogenic/Likely pathogenic · 41 Likely pathogenic · 52 Conflicting · 23 Benign · 8 Benign/Likely benign · 314 Likely benign · 238 Uncertain significance

Full CLN6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 229

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

CLN6 p.Arg103Gln Pathogenic/Likely pathogenic Multiple submitters
ceroid lipofuscinosis, neuronal, 6A
CLN6 p.Arg28Lys Pathogenic Multiple submitters
ceroid lipofuscinosis, neuronal, 6A
CLN6 p.Val273Ala Likely pathogenic Single submitter
neurodevelopmental disorder

Predictors agree, ClinVar conflicts 25

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

CLN6 p.Ala12Thr Conflicting Single submitter
ceroid lipofuscinosis, neuronal, 6A
CLN6 p.Ala267Thr Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Arg103Trp Conflicting Single submitter
CLN6-related disorder
CLN6 p.Arg136Cys Conflicting Single submitter
ceroid lipofuscinosis, neuronal, 6A
CLN6 p.Arg136His Conflicting Single submitter
ceroid lipofuscinosis, neuronal, 6B (Kufs type)
CLN6 p.Arg252His Conflicting Single submitter
Inborn genetic diseases
CLN6 p.Arg5Trp Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Arg62His Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Asp35Asn Conflicting Single submitter
Inborn genetic diseases
CLN6 p.Glu227Lys Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Glu2Gly Conflicting Single submitter
ceroid lipofuscinosis, neuronal, 6A
CLN6 p.Gly123Asp Conflicting Single submitter
ceroid lipofuscinosis, neuronal, 6A
CLN6 p.Gly17Ser Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Gly259Ser Conflicting Single submitter
ceroid lipofuscinosis, neuronal, 6B (Kufs type)
CLN6 p.Leu146Pro Conflicting Single submitter
ceroid lipofuscinosis, neuronal, 6A
CLN6 p.Leu169His Conflicting Single submitter
ceroid lipofuscinosis, neuronal, 6B (Kufs type)
CLN6 p.Leu169Pro Conflicting Single submitter
ceroid lipofuscinosis, neuronal, 6A
CLN6 p.Ser308Thr Conflicting Single submitter
ceroid lipofuscinosis, neuronal, 6A
CLN6 p.Thr113Met Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Thr93Met Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Tyr142Cys Conflicting Single submitter
Inborn genetic diseases
CLN6 p.Tyr221Ser Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Val245Ile Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Val91Ile Conflicting Single submitter
Inborn genetic diseases
CLN6 p.Leu47Phe Conflicting No assertion criteria
ceroid lipofuscinosis, neuronal, 6B (Kufs type)

Predictors lean, ClinVar uncertain 96

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

CLN6 p.Ala22Thr Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Ala274Val Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Ala34Thr Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Arg252Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CLN6 p.Arg310Gln Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Arg39Gly Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Asp46Asn Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Gln19His Uncertain significance Multiple submitters
Inborn genetic diseases
CLN6 p.Glu102Lys Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Glu36Asp Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Gly14Asp Uncertain significance Multiple submitters
adult neuronal ceroid lipofuscinosis
CLN6 p.Gly228Ser Uncertain significance Multiple submitters
CLN6 p.Ile101Val Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Ile121Met Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Ile183Val Uncertain significance Multiple submitters
Inborn genetic diseases
CLN6 p.Ile188Thr Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Ile235Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CLN6 p.Ile64Val Uncertain significance Multiple submitters
Inborn genetic diseases
CLN6 p.Leu100Arg Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Leu10Val Uncertain significance Multiple submitters
Inborn genetic diseases
CLN6 p.Lys201Glu Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Phe234Ser Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Pro209Ser Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Thr4Met Uncertain significance Multiple submitters
Inborn genetic diseases
CLN6 p.Tyr170Cys Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Val296Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CLN6 p.Val307Ile Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Val307Phe Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Val32Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CLN6 p.Ala124Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Ala301Gly Uncertain significance Single submitter
CLN6 p.Ala38Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Ala3Thr Uncertain significance Single submitter
Inborn genetic diseases
CLN6 p.Arg149Pro Uncertain significance Single submitter
CLN6 p.Arg287Trp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Arg28Thr Uncertain significance Single submitter
Inborn genetic diseases
CLN6 p.Asn134His Uncertain significance Single submitter
Inborn genetic diseases
CLN6 p.Asn55Tyr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Asn90Asp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Asn90Lys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Asp164Tyr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Asp283Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Gln26Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Gln54Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Gly11Ala Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Gly130Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Gly14Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Gly208Arg Uncertain significance Single submitter
CLN6 p.Gly218Asp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Gly21Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Gly228Asp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Gly259Arg Uncertain significance Single submitter
ceroid lipofuscinosis, neuronal, 6A
CLN6 p.Gly292Asp Uncertain significance Single submitter
CLN6 p.His135Asp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Ile119Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Ile126Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Leu137Gln Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Leu138Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Leu157Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Leu187Ile Uncertain significance Single submitter
CLN6 p.Leu270Pro Uncertain significance Single submitter
CLN6 p.Leu45Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Leu53Arg Uncertain significance Single submitter
ceroid lipofuscinosis, neuronal, 6A
CLN6 p.Leu67Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Lys201Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Lys289Arg Uncertain significance Single submitter
CLN6 p.Met191Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Phe166Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Phe185Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Phe266Ser Uncertain significance Single submitter
CLN6 p.Phe60Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Phe95Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Pro152Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Pro184Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Pro42Ala Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Pro75Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Ser104Pro Uncertain significance Single submitter
CLN6 p.Ser104Tyr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Ser111Pro Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Ser116Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Ser165Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Ser165Pro Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Ser265Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Ser309Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Ser309Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Thr198Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Thr40Lys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Trp48Arg Uncertain significance Single submitter
CLN6 p.Tyr220Ser Uncertain significance Single submitter
ceroid lipofuscinosis, neuronal, 6A
CLN6 p.Tyr84Asn Uncertain significance Single submitter
ceroid lipofuscinosis, neuronal, 6A
CLN6 p.Tyr89Cys Uncertain significance Single submitter
Inborn genetic diseases
CLN6 p.Val214Leu Uncertain significance Single submitter
CLN6 p.Val32Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Val68Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Gly259Cys Uncertain significance No assertion criteria
ceroid lipofuscinosis, neuronal, 6A
CLN6 p.Val148Asp Uncertain significance No assertion criteria
ceroid lipofuscinosis, neuronal, 6A

Predictors split 105

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

CLN6 p.Ala240Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CLN6 p.Ala243Val Uncertain significance Multiple submitters
ceroid lipofuscinosis, neuronal, 6A
CLN6 p.Arg106Cys Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Arg106His Uncertain significance Multiple submitters
ceroid lipofuscinosis, neuronal, 6A
CLN6 p.Arg110Cys Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Arg110Leu Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Arg149His Uncertain significance Multiple submitters
ceroid lipofuscinosis, neuronal, 6A
CLN6 p.Arg250His Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Arg39Cys Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Asn134Ser Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Glu2Lys Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Glu72Gln Benign/Likely benign Multiple submitters
Inborn genetic diseases
CLN6 p.Glu72Lys Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Gly15Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CLN6 p.Gly195Ser Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Leu108Val Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Leu253Val Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Lys288Asn Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Met87Val Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Phe236Val Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Phe69Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CLN6 p.Phe85Leu Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Phe95Leu Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Pro284Ser Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Pro299Leu Pathogenic Multiple submitters
ceroid lipofuscinosis, neuronal, 6A
CLN6 p.Ser125Gly Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Ser194Ile Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Ser257Gly Benign/Likely benign Multiple submitters
Inborn genetic diseases
CLN6 p.Thr161Met Uncertain significance Multiple submitters
ceroid lipofuscinosis, neuronal, 6A
CLN6 p.Thr40Met Uncertain significance Multiple submitters
Inborn genetic diseases
CLN6 p.Tyr114His Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Val115Met Uncertain significance Multiple submitters
neuronal ceroid lipofuscinosis
CLN6 p.Ala18Val Conflicting Single submitter
Inborn genetic diseases
CLN6 p.Ala240Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Ala278Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Arg106Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Arg110His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Arg250Cys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Arg250Gly Uncertain significance Single submitter
CLN6 p.Arg28Trp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Arg310Trp Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Arg39His Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Arg5Gln Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Asn258Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Asn77Ser Uncertain significance Single submitter
CLN6 p.Asn77Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Asn90Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Asp164Asn Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Gln229Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Gly208Glu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Gly218Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Gly21Val Uncertain significance Single submitter
CLN6 p.Gly292Ala Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.His144Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Ile119Met Uncertain significance Single submitter
CLN6 p.Ile206Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Ile232Met Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Ile92Met Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Leu138Arg Uncertain significance Single submitter
Inborn genetic diseases
CLN6 p.Leu187Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Leu189Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Leu212Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Leu212Pro Uncertain significance Single submitter
CLN6 p.Leu244Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Leu253Phe Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Leu262Phe Uncertain significance Single submitter
CLN6 p.Leu272Val Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Leu280Met Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Leu71Arg Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Lys249Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Lys99Arg Conflicting Single submitter
Inborn genetic diseases
CLN6 p.Met122Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Met122Thr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Met122Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Met241Ile Conflicting Single submitter
ceroid lipofuscinosis, neuronal, 6A
CLN6 p.Met241Leu Uncertain significance Single submitter
CLN6-related disorder
CLN6 p.Met241Val Conflicting Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Met66Leu Uncertain significance Single submitter
CLN6 p.Met66Val Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Phe120Ile Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Phe120Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Phe234Leu Uncertain significance Single submitter
CLN6 p.Phe236Ser Uncertain significance Single submitter
Inborn genetic diseases
CLN6 p.Phe261Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Phe49Tyr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Phe74Cys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Pro105Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Pro109Ser Uncertain significance Single submitter
CLN6 p.Pro291Leu Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Pro42Ser Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Ser104Phe Conflicting Single submitter
ceroid lipofuscinosis, neuronal, 6A
CLN6 p.Ser200Cys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Ser217Gly Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Ser23Cys Uncertain significance Single submitter
Inborn genetic diseases
CLN6 p.Ser23Tyr Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Ser31Cys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Thr237Ile Uncertain significance Single submitter
CLN6 p.Trp276Cys Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Trp300Arg Conflicting Single submitter
ceroid lipofuscinosis, neuronal, 6B (Kufs type)
CLN6 p.Tyr221Cys Conflicting Single submitter
ceroid lipofuscinosis, neuronal, 6A
CLN6 p.Tyr223His Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Tyr295His Uncertain significance Single submitter
ceroid lipofuscinosis, neuronal, 6A
CLN6 p.Val214Met Uncertain significance Single submitter
neuronal ceroid lipofuscinosis
CLN6 p.Arg6Thr Pathogenic No assertion criteria
ceroid lipofuscinosis, neuronal, 6B (Kufs type)
CLN6 p.Cys196Phe Uncertain significance No assertion criteria
ceroid lipofuscinosis, neuronal, 6A

All CLN6 variants

Pathogenic 49

p.Arg106fs Multiple submitters ceroid lipofuscinosis, neuronal, 6B (Kufs type)
p.Arg28Lys Multiple submitters ceroid lipofuscinosis, neuronal, 6A ⚠
p.Glu72Ter Multiple submitters neuronal ceroid lipofuscinosis
p.Pro299Leu Multiple submitters ceroid lipofuscinosis, neuronal, 6A ⚠
p.Ser132fs Multiple submitters ceroid lipofuscinosis, neuronal, 6B (Kufs type)
p.Val133fs Multiple submitters neuronal ceroid lipofuscinosis
p.Val277fs Multiple submitters neuronal ceroid lipofuscinosis
p.Val91fs Multiple submitters neuronal ceroid lipofuscinosis
c.198+1G>A Single submitter
c.486+2T>C Single submitter
p.Ala41fs Single submitter neuronal ceroid lipofuscinosis
p.Arg136fs Single submitter neuronal ceroid lipofuscinosis
p.Arg62fs Single submitter neuronal ceroid lipofuscinosis
p.Asp83fs Single submitter neuronal ceroid lipofuscinosis
p.Gln229Ter Single submitter neuronal ceroid lipofuscinosis
p.Gly195fs Single submitter neuronal ceroid lipofuscinosis
p.Gly61fs Single submitter neuronal ceroid lipofuscinosis
p.His247fs Single submitter neuronal ceroid lipofuscinosis
p.Ile153fs Single submitter neuronal ceroid lipofuscinosis
p.Leu219fs Single submitter neuronal ceroid lipofuscinosis
p.Leu97fs Single submitter neuronal ceroid lipofuscinosis
p.Lys201Ter Single submitter neuronal ceroid lipofuscinosis
p.Met1fs Single submitter
p.Met1Leu Single submitter neuronal ceroid lipofuscinosis
p.Met66fs Single submitter neuronal ceroid lipofuscinosis
p.Ser23fs Single submitter neuronal ceroid lipofuscinosis
p.Thr93Lys Single submitter ceroid lipofuscinosis, neuronal, 6A
p.Trp181_Tyr182insTer Single submitter neuronal ceroid lipofuscinosis
p.Trp181Ter Single submitter neuronal ceroid lipofuscinosis
p.Trp279fs Single submitter neuronal ceroid lipofuscinosis
p.Trp279Ter Single submitter neuronal ceroid lipofuscinosis
p.Trp48Ter Single submitter
p.Trp73Ter Single submitter neuronal ceroid lipofuscinosis
p.Tyr114Ter Single submitter neuronal ceroid lipofuscinosis
p.Tyr142fs Single submitter neuronal ceroid lipofuscinosis
p.Tyr142Ter Single submitter neuronal ceroid lipofuscinosis
p.Tyr170Ter Single submitter neuronal ceroid lipofuscinosis
p.Tyr220fs Single submitter neuronal ceroid lipofuscinosis
p.Tyr223Ter Single submitter
p.Tyr50Ter Single submitter neuronal ceroid lipofuscinosis
p.Tyr89Ter Single submitter neuronal ceroid lipofuscinosis
p.Val293fs Single submitter neuronal ceroid lipofuscinosis
p.Ala3fs No assertion criteria ceroid lipofuscinosis, neuronal, 6A
p.Arg6Thr No assertion criteria ceroid lipofuscinosis, neuronal, 6B (Kufs type) ⚠
p.Ile117Ser No assertion criteria ceroid lipofuscinosis, neuronal, 6B (Kufs type)
p.Leu67Pro No assertion criteria ceroid lipofuscinosis, neuronal, 6B (Kufs type)
p.Phe185fs No assertion criteria ceroid lipofuscinosis, neuronal, 6A
p.Trp73dup No assertion criteria ceroid lipofuscinosis, neuronal, 6A
p.Tyr221Ter No assertion criteria ceroid lipofuscinosis, neuronal, 6A

Pathogenic/Likely pathogenic 17

c.297+1G>A Multiple submitters neuronal ceroid lipofuscinosis
c.665+1G>A Multiple submitters neuronal ceroid lipofuscinosis
c.84-1G>A Multiple submitters ceroid lipofuscinosis, neuronal, 6A
p.Arg103Gln Multiple submitters ceroid lipofuscinosis, neuronal, 6A ⚠
p.Asp256Glu Multiple submitters ceroid lipofuscinosis, neuronal, 6A
p.Asp256Gly Multiple submitters neuronal ceroid lipofuscinosis
p.Glu167Ter Multiple submitters ceroid lipofuscinosis, neuronal, 6A
p.Met1Ile Multiple submitters ceroid lipofuscinosis, neuronal, 6A
p.Met241Thr Multiple submitters neuronal ceroid lipofuscinosis
p.Phe120_Met122del Multiple submitters ceroid lipofuscinosis, neuronal, 6A
p.Phe238Thr Multiple submitters ceroid lipofuscinosis, neuronal, 6A
p.Phe60fs Multiple submitters neuronal ceroid lipofuscinosis
p.Pro159Leu Multiple submitters ceroid lipofuscinosis, neuronal, 6A
p.Pro297fs Multiple submitters neuronal ceroid lipofuscinosis
p.Trp276Ter Multiple submitters ceroid lipofuscinosis, neuronal, 6A
p.Trp56Ter Multiple submitters ceroid lipofuscinosis, neuronal, 6A
p.Tyr172Ter Multiple submitters ceroid lipofuscinosis, neuronal, 6A

Likely pathogenic 41

c.486+1G>A Multiple submitters ceroid lipofuscinosis, neuronal, 6A
c.543-1G>A Multiple submitters neuronal ceroid lipofuscinosis
c.665+1G>T Multiple submitters ceroid lipofuscinosis, neuronal, 6A
c.83+1G>C Multiple submitters ceroid lipofuscinosis, neuronal, 6A
p.Arg149Cys Multiple submitters ceroid lipofuscinosis, neuronal, 6B (Kufs type)
p.Arg62Cys Multiple submitters neuronal ceroid lipofuscinosis
p.Lys99Asn Multiple submitters ceroid lipofuscinosis, neuronal, 6A
p.Tyr172His Multiple submitters ceroid lipofuscinosis, neuronal, 6A
c.199-1G>A Single submitter ceroid lipofuscinosis, neuronal, 6A
c.199-2A>G Single submitter neuronal ceroid lipofuscinosis
c.297+2T>C Single submitter neuronal ceroid lipofuscinosis
c.298-1G>C Single submitter neuronal ceroid lipofuscinosis
c.486+1G>C Single submitter neuronal ceroid lipofuscinosis
c.487-1G>T Single submitter neuronal ceroid lipofuscinosis
c.542+2T>C Single submitter neuronal ceroid lipofuscinosis
c.543-2A>G Single submitter neuronal ceroid lipofuscinosis
c.83+2T>G Single submitter ceroid lipofuscinosis, neuronal, 6A
c.84-2A>G Single submitter neuronal ceroid lipofuscinosis
p.Gln143Ter Single submitter neuronal ceroid lipofuscinosis
p.His29fs Single submitter ceroid lipofuscinosis, neuronal, 6B (Kufs type)
p.Ile126fs Single submitter neuronal ceroid lipofuscinosis
p.Leu108fs Single submitter neuronal ceroid lipofuscinosis
p.Leu58fs Single submitter ceroid lipofuscinosis, neuronal, 6A
p.Phe254fs Single submitter ceroid lipofuscinosis, neuronal, 6A
p.Phe261Ser Single submitter neurodevelopmental disorder
p.Pro209fs Single submitter ceroid lipofuscinosis, neuronal, 6A
p.Pro299His Single submitter ceroid lipofuscinosis, neuronal, 6A
p.Pro70fs Single submitter ceroid lipofuscinosis, neuronal, 6A
p.Pro75fs Single submitter congenital nervous system disorder
p.Ter312Arg Single submitter ceroid lipofuscinosis, neuronal, 6A
p.Trp281Cys Single submitter
p.Trp281Ter Single submitter ceroid lipofuscinosis, neuronal, 6A
p.Tyr295Cys Single submitter ceroid lipofuscinosis, neuronal, 6A
p.Val129fs Single submitter neuronal ceroid lipofuscinosis
p.Val273Ala Single submitter neurodevelopmental disorder ⚠
p.Val32fs Single submitter ceroid lipofuscinosis, neuronal, 6A
c.542+1G>T No assertion criteria ceroid lipofuscinosis, neuronal, 6A
p.Asp256fs No assertion criteria ceroid lipofuscinosis, neuronal, 6A
p.Met1Val No assertion criteria ceroid lipofuscinosis, neuronal, 6A
p.Phe263fs No assertion criteria ceroid lipofuscinosis, neuronal, 6A
p.Trp222Ter No assertion criteria ceroid lipofuscinosis, neuronal, 6A

Conflicting classifications of pathogenicity 52

c.199-4G>A Single submitter neuronal ceroid lipofuscinosis
c.199-5C>T Single submitter Inborn genetic diseases
c.298-15C>T Single submitter neuronal ceroid lipofuscinosis
c.487-12T>A Single submitter neuronal ceroid lipofuscinosis
c.487-15C>T Single submitter neuronal ceroid lipofuscinosis
c.83+11G>A Single submitter neuronal ceroid lipofuscinosis
c.-38C>T Single submitter neuronal ceroid lipofuscinosis
c.*42T>G Single submitter neuronal ceroid lipofuscinosis
p.Ala12= Single submitter neuronal ceroid lipofuscinosis
p.Ala12Thr Single submitter ceroid lipofuscinosis, neuronal, 6A ⚠
p.Ala18Val Single submitter Inborn genetic diseases ⚠
p.Ala22= Single submitter neuronal ceroid lipofuscinosis
p.Ala267Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala274= Single submitter neuronal ceroid lipofuscinosis
p.Arg103Trp Single submitter CLN6-related disorder ⚠
p.Arg136Cys Single submitter ceroid lipofuscinosis, neuronal, 6A ⚠
p.Arg136His Single submitter ceroid lipofuscinosis, neuronal, 6B (Kufs type) ⚠
p.Arg252His Single submitter Inborn genetic diseases ⚠
p.Arg39His Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg5Trp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg62His Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn90= Single submitter neuronal ceroid lipofuscinosis
p.Asp35Asn Single submitter Inborn genetic diseases ⚠
p.Glu227Lys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Glu2Gly Single submitter ceroid lipofuscinosis, neuronal, 6A ⚠
p.Gly123Asp Single submitter ceroid lipofuscinosis, neuronal, 6A ⚠
p.Gly17Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly195= Single submitter Inborn genetic diseases
p.Gly259Ser Single submitter ceroid lipofuscinosis, neuronal, 6B (Kufs type) ⚠
p.Leu146Pro Single submitter ceroid lipofuscinosis, neuronal, 6A ⚠
p.Leu169His Single submitter ceroid lipofuscinosis, neuronal, 6B (Kufs type) ⚠
p.Leu169Pro Single submitter ceroid lipofuscinosis, neuronal, 6A ⚠
p.Leu272Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu71= Single submitter neuronal ceroid lipofuscinosis
p.Lys99Arg Single submitter Inborn genetic diseases ⚠
p.Met241Ile Single submitter ceroid lipofuscinosis, neuronal, 6A ⚠
p.Met241Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Phe266= Single submitter neuronal ceroid lipofuscinosis
p.Pro94= Single submitter Inborn genetic diseases
p.Ser104Phe Single submitter ceroid lipofuscinosis, neuronal, 6A ⚠
p.Ser265del Single submitter ceroid lipofuscinosis, neuronal, 6A
p.Ser308Thr Single submitter ceroid lipofuscinosis, neuronal, 6A ⚠
p.Thr113= Single submitter Inborn genetic diseases
p.Thr113Met Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr93Met Single submitter neuronal ceroid lipofuscinosis ⚠
p.Trp300Arg Single submitter ceroid lipofuscinosis, neuronal, 6B (Kufs type) ⚠
p.Tyr142Cys Single submitter Inborn genetic diseases ⚠
p.Tyr221Cys Single submitter ceroid lipofuscinosis, neuronal, 6A ⚠
p.Tyr221Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val245Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val91Ile Single submitter Inborn genetic diseases ⚠
p.Leu47Phe No assertion criteria ceroid lipofuscinosis, neuronal, 6B (Kufs type) ⚠

Benign 23

c.198+104T>C Multiple submitters ceroid lipofuscinosis, neuronal, 6A
c.198+181A>G Multiple submitters
c.297+19del Multiple submitters neuronal ceroid lipofuscinosis
c.486+51C>T Multiple submitters
c.487-8T>C Multiple submitters neuronal ceroid lipofuscinosis
c.83+14dup Multiple submitters neuronal ceroid lipofuscinosis
c.83+35C>G Multiple submitters
c.*817C>T Multiple submitters neuronal ceroid lipofuscinosis
c.199-252A>C Single submitter
c.297+19dup Single submitter neuronal ceroid lipofuscinosis
c.298-196A>G Single submitter
c.298-248G>A Single submitter
c.298-3del Single submitter neuronal ceroid lipofuscinosis
c.665+265G>A Single submitter
c.83+188T>C Single submitter
c.*1015T>C Single submitter neuronal ceroid lipofuscinosis
c.*141GT[11] Single submitter
c.*141GT[13] Single submitter
c.*141GT[8] Single submitter
c.*38A>G Single submitter
c.*667G>A Single submitter neuronal ceroid lipofuscinosis
c.*690A>G Single submitter neuronal ceroid lipofuscinosis
c.*725C>T Single submitter neuronal ceroid lipofuscinosis

Benign/Likely benign 8

c.298-6C>T Multiple submitters ceroid lipofuscinosis, neuronal, 6A
c.486+8C>T Multiple submitters Inborn genetic diseases
c.84-18C>T Multiple submitters neuronal ceroid lipofuscinosis
p.Ala22Ser Multiple submitters Inborn genetic diseases
p.Glu72Gln Multiple submitters Inborn genetic diseases ⚠
p.Gly14= Multiple submitters neuronal ceroid lipofuscinosis
p.Gly21= Multiple submitters neuronal ceroid lipofuscinosis
p.Ser257Gly Multiple submitters Inborn genetic diseases ⚠

Likely benign 314

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

c.199-70G>A Multiple submitters
c.297+158C>T Multiple submitters
c.486+8C>A Multiple submitters neuronal ceroid lipofuscinosis
c.487-13G>A Multiple submitters neuronal ceroid lipofuscinosis
c.487-20C>T Multiple submitters neuronal ceroid lipofuscinosis
c.84-81C>T Multiple submitters
c.-23G>A Multiple submitters
c.*393G>A Multiple submitters neuronal ceroid lipofuscinosis
c.*646C>G Multiple submitters neuronal ceroid lipofuscinosis
c.*75G>C Multiple submitters neuronal ceroid lipofuscinosis
p.Ala18= Multiple submitters neuronal ceroid lipofuscinosis
p.Asn258= Multiple submitters neuronal ceroid lipofuscinosis
p.Gly141= Multiple submitters Inborn genetic diseases
p.Gly228= Multiple submitters neuronal ceroid lipofuscinosis
p.Gly292= Multiple submitters neuronal ceroid lipofuscinosis
p.His247= Multiple submitters neuronal ceroid lipofuscinosis
p.His306= Multiple submitters neuronal ceroid lipofuscinosis
p.Ile118= Multiple submitters neuronal ceroid lipofuscinosis
p.Ile188= Multiple submitters Inborn genetic diseases
p.Leu270= Multiple submitters neuronal ceroid lipofuscinosis
p.Phe239= Multiple submitters ceroid lipofuscinosis, neuronal, 6A
p.Phe24= Multiple submitters neuronal ceroid lipofuscinosis
p.Phe263= Multiple submitters neuronal ceroid lipofuscinosis
p.Phe60= Multiple submitters neuronal ceroid lipofuscinosis
p.Pro159= Multiple submitters neuronal ceroid lipofuscinosis
p.Pro291= Multiple submitters neuronal ceroid lipofuscinosis
p.Ser194= Multiple submitters neuronal ceroid lipofuscinosis
p.Ser33= Multiple submitters neuronal ceroid lipofuscinosis
p.Ser80= Multiple submitters neuronal ceroid lipofuscinosis
p.Thr40= Multiple submitters Inborn genetic diseases
p.Tyr172= Multiple submitters neuronal ceroid lipofuscinosis
p.Tyr290= Multiple submitters neuronal ceroid lipofuscinosis
c.198+11A>C Single submitter neuronal ceroid lipofuscinosis
c.198+12A>G Single submitter neuronal ceroid lipofuscinosis
c.198+17G>A Single submitter neuronal ceroid lipofuscinosis
c.198+19A>C Single submitter neuronal ceroid lipofuscinosis
c.198+20C>T Single submitter neuronal ceroid lipofuscinosis
c.198+8T>C Single submitter neuronal ceroid lipofuscinosis
c.199-12T>C Single submitter neuronal ceroid lipofuscinosis
c.199-13A>G Single submitter neuronal ceroid lipofuscinosis
c.199-14C>A Single submitter neuronal ceroid lipofuscinosis
c.199-14C>T Single submitter neuronal ceroid lipofuscinosis
c.199-14del Single submitter neuronal ceroid lipofuscinosis
c.199-16T>A Single submitter neuronal ceroid lipofuscinosis
c.199-18C>A Single submitter neuronal ceroid lipofuscinosis
c.199-19dup Single submitter neuronal ceroid lipofuscinosis
c.199-6C>G Single submitter neuronal ceroid lipofuscinosis
c.199-6C>T Single submitter neuronal ceroid lipofuscinosis
c.199-7T>C Single submitter neuronal ceroid lipofuscinosis
c.199-84C>T Single submitter
c.297+15C>T Single submitter neuronal ceroid lipofuscinosis
c.297+17C>T Single submitter neuronal ceroid lipofuscinosis
c.297+18C>G Single submitter neuronal ceroid lipofuscinosis
c.297+18C>T Single submitter neuronal ceroid lipofuscinosis
c.297+20A>C Single submitter neuronal ceroid lipofuscinosis
c.297+9C>T Single submitter neuronal ceroid lipofuscinosis
c.298-11C>G Single submitter neuronal ceroid lipofuscinosis
c.298-13C>T Single submitter neuronal ceroid lipofuscinosis
c.298-14A>T Single submitter neuronal ceroid lipofuscinosis
c.298-168C>T Single submitter
c.298-16C>A Single submitter neuronal ceroid lipofuscinosis
c.298-17C>G Single submitter neuronal ceroid lipofuscinosis
c.298-20A>C Single submitter neuronal ceroid lipofuscinosis
c.298-8A>T Single submitter neuronal ceroid lipofuscinosis
c.486+11C>A Single submitter neuronal ceroid lipofuscinosis
c.486+11C>T Single submitter neuronal ceroid lipofuscinosis
c.486+12T>G Single submitter neuronal ceroid lipofuscinosis
c.486+13C>T Single submitter neuronal ceroid lipofuscinosis
c.486+15dup Single submitter neuronal ceroid lipofuscinosis
c.486+16dup Single submitter neuronal ceroid lipofuscinosis
c.486+16G>A Single submitter neuronal ceroid lipofuscinosis
c.486+16G>C Single submitter neuronal ceroid lipofuscinosis
c.486+17C>A Single submitter neuronal ceroid lipofuscinosis
c.486+19C>G Single submitter neuronal ceroid lipofuscinosis
c.486+7C>G Single submitter neuronal ceroid lipofuscinosis
c.487-10C>G Single submitter neuronal ceroid lipofuscinosis
c.487-10C>T Single submitter neuronal ceroid lipofuscinosis
c.487-140G>A Single submitter
c.487-14C>T Single submitter neuronal ceroid lipofuscinosis
c.487-19C>T Single submitter neuronal ceroid lipofuscinosis
c.487-39C>T Single submitter
c.487-5C>A Single submitter neuronal ceroid lipofuscinosis
c.487-7C>A Single submitter neuronal ceroid lipofuscinosis
c.487-7C>G Single submitter neuronal ceroid lipofuscinosis
c.487-7C>T Single submitter neuronal ceroid lipofuscinosis
c.487-9C>G Single submitter neuronal ceroid lipofuscinosis
c.487-9C>T Single submitter neuronal ceroid lipofuscinosis
c.542+11G>A Single submitter neuronal ceroid lipofuscinosis
c.542+12G>T Single submitter neuronal ceroid lipofuscinosis
c.542+13C>G Single submitter neuronal ceroid lipofuscinosis
c.542+13C>T Single submitter neuronal ceroid lipofuscinosis
c.542+14C>T Single submitter neuronal ceroid lipofuscinosis
c.542+15del Single submitter neuronal ceroid lipofuscinosis
c.542+165C>T Single submitter
c.542+16A>T Single submitter neuronal ceroid lipofuscinosis
c.542+20G>A Single submitter neuronal ceroid lipofuscinosis
c.542+20G>C Single submitter neuronal ceroid lipofuscinosis
c.542+212C>T Single submitter
c.542+33G>A Single submitter
c.542+8A>G Single submitter
c.543-10C>A Single submitter neuronal ceroid lipofuscinosis
c.543-10C>T Single submitter neuronal ceroid lipofuscinosis
c.543-13C>G Single submitter neuronal ceroid lipofuscinosis
c.543-14C>A Single submitter neuronal ceroid lipofuscinosis
c.543-17T>C Single submitter neuronal ceroid lipofuscinosis
c.543-19A>G Single submitter neuronal ceroid lipofuscinosis
c.543-20C>T Single submitter neuronal ceroid lipofuscinosis
c.543-303G>A Single submitter
c.543-6T>C Single submitter neuronal ceroid lipofuscinosis
c.543-8T>C Single submitter neuronal ceroid lipofuscinosis
c.543-9C>T Single submitter neuronal ceroid lipofuscinosis
c.665+10C>T Single submitter neuronal ceroid lipofuscinosis
c.665+11A>T Single submitter neuronal ceroid lipofuscinosis
c.665+12T>A Single submitter neuronal ceroid lipofuscinosis
c.665+14A>T Single submitter neuronal ceroid lipofuscinosis
c.665+16C>G Single submitter neuronal ceroid lipofuscinosis
c.665+18T>C Single submitter neuronal ceroid lipofuscinosis
c.665+18T>G Single submitter neuronal ceroid lipofuscinosis
c.665+19G>A Single submitter neuronal ceroid lipofuscinosis
c.665+7G>A Single submitter neuronal ceroid lipofuscinosis
c.665+8G>A Single submitter neuronal ceroid lipofuscinosis
c.666-10G>A Single submitter neuronal ceroid lipofuscinosis
c.666-12T>C Single submitter neuronal ceroid lipofuscinosis
c.666-14C>T Single submitter neuronal ceroid lipofuscinosis
c.666-15C>T Single submitter neuronal ceroid lipofuscinosis
c.666-16C>T Single submitter neuronal ceroid lipofuscinosis
c.666-19_666-16del Single submitter neuronal ceroid lipofuscinosis
c.666-20C>T Single submitter
c.666-45C>T Single submitter
c.666-4C>T Single submitter neuronal ceroid lipofuscinosis
c.666-5T>A Single submitter neuronal ceroid lipofuscinosis
c.666-5T>C Single submitter neuronal ceroid lipofuscinosis
c.666-5T>G Single submitter neuronal ceroid lipofuscinosis
c.666-9C>T Single submitter neuronal ceroid lipofuscinosis
c.83+10C>T Single submitter neuronal ceroid lipofuscinosis
c.83+13C>G Single submitter neuronal ceroid lipofuscinosis
c.83+13C>T Single submitter neuronal ceroid lipofuscinosis
c.83+14G>A Single submitter neuronal ceroid lipofuscinosis
c.83+16G>C Single submitter neuronal ceroid lipofuscinosis
c.83+188_83+191del Single submitter
c.83+218G>T Single submitter
c.83+225del Single submitter
c.83+7G>A Single submitter neuronal ceroid lipofuscinosis
c.83+9G>A Single submitter neuronal ceroid lipofuscinosis
c.83+9G>C Single submitter neuronal ceroid lipofuscinosis
c.84-12G>C Single submitter neuronal ceroid lipofuscinosis
c.84-16T>A Single submitter neuronal ceroid lipofuscinosis
c.84-17_84-15del Single submitter neuronal ceroid lipofuscinosis
c.84-17G>A Single submitter neuronal ceroid lipofuscinosis
c.84-17G>T Single submitter neuronal ceroid lipofuscinosis
c.84-18C>A Single submitter neuronal ceroid lipofuscinosis
c.84-3del Single submitter neuronal ceroid lipofuscinosis
c.84-4C>G Single submitter neuronal ceroid lipofuscinosis
c.84-4C>T Single submitter neuronal ceroid lipofuscinosis
c.84-8C>T Single submitter neuronal ceroid lipofuscinosis
c.84-9C>T Single submitter neuronal ceroid lipofuscinosis
c.-27C>A Single submitter
c.-29G>T Single submitter
c.-34G>A Single submitter
c.-37C>T Single submitter
c.-5C>T Single submitter
c.*141GT[12] Single submitter
c.*141GT[14] Single submitter
c.*141GT[9] Single submitter
c.*30T>G Single submitter
c.*655C>T Single submitter neuronal ceroid lipofuscinosis
c.*934G>T Single submitter neuronal ceroid lipofuscinosis
p.Ala199= Single submitter neuronal ceroid lipofuscinosis
p.Ala202= Single submitter neuronal ceroid lipofuscinosis
p.Ala210= Single submitter neuronal ceroid lipofuscinosis
p.Ala240= Single submitter neuronal ceroid lipofuscinosis
p.Ala267= Single submitter neuronal ceroid lipofuscinosis
p.Ala27= Single submitter neuronal ceroid lipofuscinosis
p.Ala278= Single submitter neuronal ceroid lipofuscinosis
p.Ala3= Single submitter neuronal ceroid lipofuscinosis
p.Ala38= Single submitter neuronal ceroid lipofuscinosis
p.Ala41= Single submitter neuronal ceroid lipofuscinosis
p.Ala65= Single submitter neuronal ceroid lipofuscinosis
p.Arg103= Single submitter neuronal ceroid lipofuscinosis
p.Arg106= Single submitter neuronal ceroid lipofuscinosis
p.Arg110= Single submitter neuronal ceroid lipofuscinosis
p.Arg149= Single submitter neuronal ceroid lipofuscinosis
p.Arg16Trp Single submitter
p.Arg250= Single submitter neuronal ceroid lipofuscinosis
p.Arg252= Single submitter neuronal ceroid lipofuscinosis
p.Arg39= Single submitter neuronal ceroid lipofuscinosis
p.Arg5= Single submitter neuronal ceroid lipofuscinosis
p.Arg6= Single submitter neuronal ceroid lipofuscinosis
p.Arg7= Single submitter neuronal ceroid lipofuscinosis
p.Asp173= Single submitter neuronal ceroid lipofuscinosis
p.Asp35= Single submitter neuronal ceroid lipofuscinosis
p.Asp46= Single submitter neuronal ceroid lipofuscinosis
p.Cys196= Single submitter neuronal ceroid lipofuscinosis
p.Gln143= Single submitter neuronal ceroid lipofuscinosis
p.Gln26= Single submitter neuronal ceroid lipofuscinosis
p.Gln8= Single submitter neuronal ceroid lipofuscinosis
p.Glu167= Single submitter neuronal ceroid lipofuscinosis
p.Glu174= Single submitter neuronal ceroid lipofuscinosis
p.Glu203= Single submitter neuronal ceroid lipofuscinosis
p.Glu227= Single submitter neuronal ceroid lipofuscinosis
p.Glu298= Single submitter neuronal ceroid lipofuscinosis
p.Glu72= Single submitter neuronal ceroid lipofuscinosis
p.Gly11= Single submitter neuronal ceroid lipofuscinosis
p.Gly15= Single submitter neuronal ceroid lipofuscinosis
p.Gly17= Single submitter neuronal ceroid lipofuscinosis
p.Gly208= Single submitter neuronal ceroid lipofuscinosis
p.Gly259= Single submitter neuronal ceroid lipofuscinosis
p.Gly28= Single submitter
p.Gly30= Single submitter neuronal ceroid lipofuscinosis
p.Gly30Ala Single submitter
p.His135= Single submitter neuronal ceroid lipofuscinosis
p.His178= Single submitter neuronal ceroid lipofuscinosis
p.His44= Single submitter neuronal ceroid lipofuscinosis
p.His9= Single submitter neuronal ceroid lipofuscinosis
p.Ile101= Single submitter neuronal ceroid lipofuscinosis
p.Ile117= Single submitter neuronal ceroid lipofuscinosis
p.Ile121= Single submitter neuronal ceroid lipofuscinosis
p.Ile154= Single submitter neuronal ceroid lipofuscinosis
p.Ile163= Single submitter neuronal ceroid lipofuscinosis
p.Ile183= Single submitter neuronal ceroid lipofuscinosis
p.Ile230= Single submitter neuronal ceroid lipofuscinosis
p.Leu10= Single submitter neuronal ceroid lipofuscinosis
p.Leu100= Single submitter neuronal ceroid lipofuscinosis
p.Leu108= Single submitter neuronal ceroid lipofuscinosis
p.Leu128= Single submitter neuronal ceroid lipofuscinosis
p.Leu137= Single submitter neuronal ceroid lipofuscinosis
p.Leu138= Single submitter neuronal ceroid lipofuscinosis
p.Leu146= Single submitter neuronal ceroid lipofuscinosis
p.Leu157= Single submitter neuronal ceroid lipofuscinosis
p.Leu168= Single submitter neuronal ceroid lipofuscinosis
p.Leu169= Single submitter neuronal ceroid lipofuscinosis
p.Leu176= Single submitter neuronal ceroid lipofuscinosis
p.Leu189= Single submitter neuronal ceroid lipofuscinosis
p.Leu20= Single submitter neuronal ceroid lipofuscinosis
p.Leu205= Single submitter neuronal ceroid lipofuscinosis
p.Leu211= Single submitter neuronal ceroid lipofuscinosis
p.Leu212= Single submitter neuronal ceroid lipofuscinosis
p.Leu213= Single submitter neuronal ceroid lipofuscinosis
p.Leu219= Single submitter neuronal ceroid lipofuscinosis
p.Leu224= Single submitter neuronal ceroid lipofuscinosis
p.Leu233= Single submitter neuronal ceroid lipofuscinosis
p.Leu242= Single submitter neuronal ceroid lipofuscinosis
p.Leu244= Single submitter neuronal ceroid lipofuscinosis
p.Leu25= Single submitter neuronal ceroid lipofuscinosis
p.Leu253= Single submitter neuronal ceroid lipofuscinosis
p.Leu255= Single submitter neuronal ceroid lipofuscinosis
p.Leu262= Single submitter neuronal ceroid lipofuscinosis
p.Leu268= Single submitter neuronal ceroid lipofuscinosis
p.Leu271= Single submitter neuronal ceroid lipofuscinosis
p.Leu275= Single submitter neuronal ceroid lipofuscinosis
p.Leu280= Single submitter neuronal ceroid lipofuscinosis
p.Leu286= Single submitter neuronal ceroid lipofuscinosis
p.Leu45= Single submitter neuronal ceroid lipofuscinosis
p.Leu47= Single submitter neuronal ceroid lipofuscinosis
p.Leu53= Single submitter neuronal ceroid lipofuscinosis
p.Leu76= Single submitter neuronal ceroid lipofuscinosis
p.Leu96= Single submitter neuronal ceroid lipofuscinosis
p.Leu97= Single submitter neuronal ceroid lipofuscinosis
p.Leu98= Single submitter neuronal ceroid lipofuscinosis
p.Lys155= Single submitter neuronal ceroid lipofuscinosis
p.Lys201= Single submitter neuronal ceroid lipofuscinosis
p.Lys249= Single submitter neuronal ceroid lipofuscinosis
p.Lys251= Single submitter neuronal ceroid lipofuscinosis
p.Phe185= Single submitter neuronal ceroid lipofuscinosis
p.Phe186= Single submitter neuronal ceroid lipofuscinosis
p.Phe238= Single submitter neuronal ceroid lipofuscinosis
p.Phe261= Single submitter neuronal ceroid lipofuscinosis
p.Phe69= Single submitter neuronal ceroid lipofuscinosis
p.Phe85= Single submitter neuronal ceroid lipofuscinosis
p.Pro152= Single submitter neuronal ceroid lipofuscinosis
p.Pro16= Single submitter neuronal ceroid lipofuscinosis
p.Pro184= Single submitter neuronal ceroid lipofuscinosis
p.Pro284= Single submitter neuronal ceroid lipofuscinosis
p.Pro75= Single submitter neuronal ceroid lipofuscinosis
p.Pro79= Single submitter neuronal ceroid lipofuscinosis
p.Ser111= Single submitter neuronal ceroid lipofuscinosis
p.Ser116= Single submitter neuronal ceroid lipofuscinosis
p.Ser125= Single submitter neuronal ceroid lipofuscinosis
p.Ser132= Single submitter neuronal ceroid lipofuscinosis
p.Ser147= Single submitter neuronal ceroid lipofuscinosis
p.Ser165= Single submitter neuronal ceroid lipofuscinosis
p.Ser23= Single submitter neuronal ceroid lipofuscinosis
p.Ser265= Single submitter neuronal ceroid lipofuscinosis
p.Ser308= Single submitter neuronal ceroid lipofuscinosis
p.Ser31= Single submitter neuronal ceroid lipofuscinosis
p.Thr107= Single submitter neuronal ceroid lipofuscinosis
p.Thr13= Single submitter neuronal ceroid lipofuscinosis
p.Thr161= Single submitter neuronal ceroid lipofuscinosis
p.Thr226= Single submitter neuronal ceroid lipofuscinosis
p.Thr237= Single submitter neuronal ceroid lipofuscinosis
p.Thr304= Single submitter neuronal ceroid lipofuscinosis
p.Thr4= Single submitter neuronal ceroid lipofuscinosis
p.Thr93= Single submitter neuronal ceroid lipofuscinosis
p.Tyr114= Single submitter neuronal ceroid lipofuscinosis
p.Tyr142= Single submitter neuronal ceroid lipofuscinosis
p.Tyr171= Single submitter neuronal ceroid lipofuscinosis
p.Tyr175= Single submitter neuronal ceroid lipofuscinosis
p.Tyr182= Single submitter neuronal ceroid lipofuscinosis
p.Tyr221= Single submitter neuronal ceroid lipofuscinosis
p.Tyr223= Single submitter neuronal ceroid lipofuscinosis

Uncertain significance 238

c.297+113G>C Multiple submitters ceroid lipofuscinosis, neuronal, 6A
c.297+4C>T Multiple submitters Inborn genetic diseases
c.542+5G>T Multiple submitters neuronal ceroid lipofuscinosis
c.666-3C>T Multiple submitters neuronal ceroid lipofuscinosis
c.83+6C>T Multiple submitters neuronal ceroid lipofuscinosis
c.*131G>T Multiple submitters neuronal ceroid lipofuscinosis
p.Ala22Thr Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ala240Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala243Val Multiple submitters ceroid lipofuscinosis, neuronal, 6A ⚠
p.Ala274Val Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ala34Thr Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Arg106Cys Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Arg106His Multiple submitters ceroid lipofuscinosis, neuronal, 6A ⚠
p.Arg110Cys Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Arg110Leu Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Arg149His Multiple submitters ceroid lipofuscinosis, neuronal, 6A ⚠
p.Arg250His Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Arg252Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg310Gln Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Arg39Cys Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Arg39Gly Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Asn134Ser Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Asp46Asn Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Gln19His Multiple submitters Inborn genetic diseases ⚠
p.Glu102Lys Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Glu2Lys Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Glu36Asp Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Glu72Lys Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Gly14Asp Multiple submitters adult neuronal ceroid lipofuscinosis ⚠
p.Gly15Cys Multiple submitters Inborn genetic diseases ⚠
p.Gly195Ser Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Gly228Ser Multiple submitters ⚠
p.Ile101Val Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ile121Met Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ile183Val Multiple submitters Inborn genetic diseases ⚠
p.Ile188Thr Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ile235Asn Multiple submitters Inborn genetic diseases ⚠
p.Ile64Val Multiple submitters Inborn genetic diseases ⚠
p.Leu100Arg Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Leu108Val Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Leu10Val Multiple submitters Inborn genetic diseases ⚠
p.Leu253Val Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Lys201Glu Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Lys288Asn Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Met87Val Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Phe234Ser Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Phe236Val Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Phe69Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe85Leu Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Phe95Leu Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Pro209Ser Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Pro284Ser Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ser125Gly Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Ser194Ile Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Thr161Met Multiple submitters ceroid lipofuscinosis, neuronal, 6A ⚠
p.Thr40Met Multiple submitters Inborn genetic diseases ⚠
p.Thr4Met Multiple submitters Inborn genetic diseases ⚠
p.Tyr114His Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Tyr170Cys Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Val115Met Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Val296Ile Multiple submitters Inborn genetic diseases ⚠
p.Val307Ile Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Val307Phe Multiple submitters neuronal ceroid lipofuscinosis ⚠
p.Val32Leu Multiple submitters Inborn genetic diseases ⚠
c.198+3G>C Single submitter neuronal ceroid lipofuscinosis
c.198+5G>A Single submitter neuronal ceroid lipofuscinosis
c.199-12T>G Single submitter neuronal ceroid lipofuscinosis
c.298-346G>T Single submitter
c.487-3C>G Single submitter neuronal ceroid lipofuscinosis
c.666-6T>C Single submitter Inborn genetic diseases
c.83+15G>A Single submitter neuronal ceroid lipofuscinosis
c.-101A>G Single submitter neuronal ceroid lipofuscinosis
c.-108G>C Single submitter neuronal ceroid lipofuscinosis
c.-22C>A Single submitter neuronal ceroid lipofuscinosis
c.-92C>T Single submitter neuronal ceroid lipofuscinosis
c.*1023G>A Single submitter neuronal ceroid lipofuscinosis
c.*1103G>A Single submitter neuronal ceroid lipofuscinosis
c.*1109G>A Single submitter neuronal ceroid lipofuscinosis
c.*175C>T Single submitter neuronal ceroid lipofuscinosis
c.*179G>C Single submitter neuronal ceroid lipofuscinosis
c.*224T>C Single submitter neuronal ceroid lipofuscinosis
c.*246G>A Single submitter neuronal ceroid lipofuscinosis
c.*264T>C Single submitter neuronal ceroid lipofuscinosis
c.*284C>T Single submitter neuronal ceroid lipofuscinosis
c.*300C>T Single submitter neuronal ceroid lipofuscinosis
c.*312C>T Single submitter neuronal ceroid lipofuscinosis
c.*345C>T Single submitter neuronal ceroid lipofuscinosis
c.*446C>T Single submitter neuronal ceroid lipofuscinosis
c.*470C>T Single submitter neuronal ceroid lipofuscinosis
c.*481T>G Single submitter neuronal ceroid lipofuscinosis
c.*526A>G Single submitter neuronal ceroid lipofuscinosis
c.*532T>A Single submitter neuronal ceroid lipofuscinosis
c.*69G>T Single submitter neuronal ceroid lipofuscinosis
c.*749T>C Single submitter neuronal ceroid lipofuscinosis
c.*882C>T Single submitter neuronal ceroid lipofuscinosis
c.*887G>T Single submitter neuronal ceroid lipofuscinosis
c.*88G>A Single submitter neuronal ceroid lipofuscinosis
c.*991C>A Single submitter neuronal ceroid lipofuscinosis
p.Ala124Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala240Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala278Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala301Gly Single submitter ⚠
p.Ala38Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ala3Thr Single submitter Inborn genetic diseases ⚠
p.Arg106Gly Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg110His Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg149Pro Single submitter ⚠
p.Arg250Cys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg250Gly Single submitter ⚠
p.Arg287Trp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg28Thr Single submitter Inborn genetic diseases ⚠
p.Arg28Trp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg310Trp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Arg35Pro Single submitter
p.Arg5Gln Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn134His Single submitter Inborn genetic diseases ⚠
p.Asn258Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn55Tyr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn77Ser Single submitter ⚠
p.Asn77Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn90Asp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn90Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asn90Lys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asp164Asn Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asp164Tyr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Asp173del Single submitter neuronal ceroid lipofuscinosis
p.Asp283Glu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gln229Glu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gln26Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gln54Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly11Ala Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly130Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly14Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly208Arg Single submitter ⚠
p.Gly208Glu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly218Asp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly218Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly21Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly21Val Single submitter ⚠
p.Gly228Asp Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly259Arg Single submitter ceroid lipofuscinosis, neuronal, 6A ⚠
p.Gly292Ala Single submitter neuronal ceroid lipofuscinosis ⚠
p.Gly292Asp Single submitter ⚠
p.His135Asp Single submitter neuronal ceroid lipofuscinosis ⚠
p.His144Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.His306fs Single submitter neuronal ceroid lipofuscinosis
p.Ile119Met Single submitter ⚠
p.Ile119Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile126Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile206Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile232Met Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ile92Met Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu137Gln Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu138Arg Single submitter Inborn genetic diseases ⚠
p.Leu138Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu157Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu187Ile Single submitter ⚠
p.Leu187Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu189Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu20_Gly21insAla Single submitter neuronal ceroid lipofuscinosis
p.Leu212Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu212Pro Single submitter ⚠
p.Leu244Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu253Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu262Phe Single submitter ⚠
p.Leu270Pro Single submitter ⚠
p.Leu280Met Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu45Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu53Arg Single submitter ceroid lipofuscinosis, neuronal, 6A ⚠
p.Leu67Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Leu71Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys201Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys249Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Lys289Arg Single submitter ⚠
p.Met122Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Met122Thr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Met122Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Met191Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Met241Leu Single submitter CLN6-related disorder ⚠
p.Met66Leu Single submitter ⚠
p.Met66Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Phe120Ile Single submitter neuronal ceroid lipofuscinosis ⚠
p.Phe120Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Phe166Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Phe185Val Single submitter neuronal ceroid lipofuscinosis ⚠
p.Phe186del Single submitter neuronal ceroid lipofuscinosis
p.Phe190_Met191delinsLeu Single submitter neuronal ceroid lipofuscinosis
p.Phe234Leu Single submitter ⚠
p.Phe236Ser Single submitter Inborn genetic diseases ⚠
p.Phe261Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Phe266Ser Single submitter ⚠
p.Phe49Tyr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Phe60Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Phe74Cys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Phe95Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro105Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro109Ser Single submitter ⚠
p.Pro152Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro184Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro291Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro42Ala Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro42Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Pro75Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser104Pro Single submitter ⚠
p.Ser104Tyr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser111Pro Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser116Gly Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser165Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser165Pro Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser200Cys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser217Gly Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser23Cys Single submitter Inborn genetic diseases ⚠
p.Ser23Tyr Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser265Phe Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser308Arg Single submitter neuronal ceroid lipofuscinosis
p.Ser309Arg Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser309Gly Single submitter neuronal ceroid lipofuscinosis ⚠
p.Ser31Cys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr198Ser Single submitter neuronal ceroid lipofuscinosis ⚠
p.Thr237Ile Single submitter ⚠
p.Thr40Lys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Trp276Cys Single submitter neuronal ceroid lipofuscinosis ⚠
p.Trp48Arg Single submitter ⚠
p.Tyr172del Single submitter
p.Tyr220Ser Single submitter ceroid lipofuscinosis, neuronal, 6A ⚠
p.Tyr223His Single submitter neuronal ceroid lipofuscinosis ⚠
p.Tyr295His Single submitter ceroid lipofuscinosis, neuronal, 6A ⚠
p.Tyr84Asn Single submitter ceroid lipofuscinosis, neuronal, 6A ⚠
p.Tyr89Cys Single submitter Inborn genetic diseases ⚠
p.Val214Leu Single submitter ⚠
p.Val214Met Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val32Gly Single submitter neuronal ceroid lipofuscinosis ⚠
p.Val68Leu Single submitter neuronal ceroid lipofuscinosis ⚠
p.Cys196Phe No assertion criteria ceroid lipofuscinosis, neuronal, 6A ⚠
p.Gly259Cys No assertion criteria ceroid lipofuscinosis, neuronal, 6A ⚠
p.Ile119del No assertion criteria ceroid lipofuscinosis, neuronal, 6A
p.Tyr303Ter No assertion criteria ceroid lipofuscinosis, neuronal, 6A
p.Val148Asp No assertion criteria ceroid lipofuscinosis, neuronal, 6A ⚠