Sugi Variant

Sugi Variant/GRN

GRN — 785 ClinVar variants

All ClinVar germline GRN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 311 flagged for review →

107 Pathogenic · 6 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 39 Conflicting · 15 Benign · 18 Benign/Likely benign · 231 Likely benign · 348 Uncertain significance

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

⚑ Evidence disagreements 311

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.

Predictors agree, ClinVar conflicts 17

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

Predictors lean, ClinVar uncertain 245

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 245

Predictors split 46

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

All GRN variants

Pathogenic 107

  • c.1414-1G>T Multiple submitters neuronal ceroid lipofuscinosis 11
  • c.1414-2A>G Multiple submitters neuronal ceroid lipofuscinosis 11
  • c.349+1G>C Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.708+1G>A Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.709-1G>A Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.709-2A>G Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Ala9Asp Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Arg110Ter Multiple submitters GRN-related disorder
  • p.Arg198fs Multiple submitters neuronal ceroid lipofuscinosis 11
  • p.Arg418Ter Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Arg493Ter Multiple submitters GRN-related disorder
  • p.Cys157fs Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Cys253_Asp254delinsTer Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Cys260fs Multiple submitters frontotemporal dementia
  • p.Cys306Ter Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Cys31fs Multiple submitters Adult onset neurodegenerative disorder
  • p.Gln130fs Multiple submitters GRN-related disorder
  • p.Gln257fs Multiple submitters neuronal ceroid lipofuscinosis 11
  • p.Gln300Ter Multiple submitters GRN-related disorder
  • p.Gln337Ter Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Gly35fs Multiple submitters GRN-related disorder
  • p.Lys259Ter Multiple submitters GRN-related disorder
  • p.Ser226fs Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Thr272fs Multiple submitters neuronal ceroid lipofuscinosis 11
  • p.Thr382fs Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Thr52fs Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Trp304Ter Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.1179+1G>C Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.1179+3A>G Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.138+1G>A Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.264+1del Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.265-2del Single submitter neuronal ceroid lipofuscinosis 11
  • c.599-2A>G Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.708+1G>C Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.709-4_713del Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.836-1G>C Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.-8+5G>C Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Ala303fs Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Ala359fs Single submitter
  • p.Ala9fs Single submitter
  • p.Arg177fs Single submitter
  • p.Asp254fs Single submitter frontotemporal dementia
  • p.Asp441fs Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Asp477fs Single submitter GRN-related disorder
  • p.Cys26Ter Single submitter
  • p.Cys296fs Single submitter
  • p.Cys30fs Single submitter neuronal ceroid lipofuscinosis 11
  • p.Cys389fs Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Cys410fs Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Cys416fs Single submitter Cognitive impairment
  • p.Cys41Ter Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Cys474fs Single submitter
  • p.Cys482Ter Single submitter frontotemporal dementia
  • p.Cys61fs Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Cys99fs Single submitter neuronal ceroid lipofuscinosis 11
  • p.Gln130Ter Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Gln331Ter Single submitter neuronal ceroid lipofuscinosis 11
  • p.Gln406fs Single submitter
  • p.Gln406Ter Single submitter neuronal ceroid lipofuscinosis 11
  • p.Gln468Ter Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Glu385fs Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Glu385Ter Single submitter Inborn genetic diseases
  • p.Glu498fs Single submitter neuronal ceroid lipofuscinosis 11
  • p.Glu520Ter Single submitter
  • p.Glu88= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Gly79fs Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.His175fs Single submitter frontotemporal dementia
  • p.Leu14fs Single submitter neuronal ceroid lipofuscinosis 11
  • p.Leu187fs Single submitter frontotemporal dementia
  • p.Lys259fs Single submitter neuronal ceroid lipofuscinosis 11
  • p.Lys491fs Single submitter
  • p.Met142fs Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Met1Thr Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Met1Val Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Pro100fs Single submitter neuronal ceroid lipofuscinosis 11
  • p.Pro166delinsLeuTer Single submitter neuronal ceroid lipofuscinosis 11
  • p.Pro323fs Single submitter Inborn genetic diseases
  • p.Pro44fs Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Ser116Ter Single submitter GRN-related disorder
  • p.Ser129fs Single submitter frontotemporal dementia
  • p.Ser156fs Single submitter frontotemporal dementia
  • p.Ser205Ter Single submitter neuronal ceroid lipofuscinosis 11
  • p.Ser262fs Single submitter neuronal ceroid lipofuscinosis 11
  • p.Ser78fs Single submitter frontotemporal dementia
  • p.Ser82fs Single submitter GRN-related disorder
  • p.Thr238fs Single submitter neuronal ceroid lipofuscinosis 11
  • p.Thr382Asnfs Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Trp2Ter Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Trp304fs Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Trp386Ter Single submitter neuronal ceroid lipofuscinosis 11
  • p.Trp49Ter Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Trp7Ter Single submitter GRN-related disorder
  • p.Tyr229Ter Single submitter
  • p.Tyr294Ter Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Tyr486Ter Single submitter neuronal ceroid lipofuscinosis 11
  • p.Val28fs Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Val499fs Single submitter
  • c.462+1G>C No assertion criteria frontotemporal dementia
  • c.709-3C>G No assertion criteria GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Asp33fs No assertion criteria GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Cys404Ter No assertion criteria frontotemporal dementia
  • p.Gln125Ter No assertion criteria GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Gly333fs No assertion criteria GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Met1Ile No assertion criteria GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Met1Leu No assertion criteria neuronal ceroid lipofuscinosis 11
  • p.Pro512fs No assertion criteria GRN-related disorder
  • p.Thr18Ala No assertion criteria parkinsonian disorder ⚠

Pathogenic/Likely pathogenic 6

  • c.599-1G>A Multiple submitters neuronal ceroid lipofuscinosis 11
  • c.708+6_708+9del Multiple submitters Inborn genetic diseases
  • p.Asp128fs Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Gln337fs Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Gln358Ter Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Thr220fs Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

Likely pathogenic 21

  • c.264+1G>A Multiple submitters Alzheimer disease
  • c.934-1G>A Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.138+2T>C Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.139-2A>G Single submitter
  • c.1414-15_1591del Single submitter neuronal ceroid lipofuscinosis 11
  • c.264+2T>C Single submitter
  • c.265-2A>T Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.835+1G>A Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.933+1G>A Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.934-11_936del Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.-8+3A>G Single submitter
  • p.Ala199Val Single submitter ⚠
  • p.Arg440fs Single submitter
  • p.Gln249Ter Single submitter
  • p.Gln479Ter Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Gly168fs Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Leu10Ser Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Leu469fs Single submitter neuronal ceroid lipofuscinosis 11
  • p.Trp386fs Single submitter
  • p.Asp363fs No assertion criteria GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Ser301fs No assertion criteria GRN-related disorder

Conflicting classifications of pathogenicity 39

  • c.1180-3C>T Single submitter Inborn genetic diseases
  • c.1180-8C>T Single submitter neuronal ceroid lipofuscinosis 11
  • c.139-3T>C Single submitter Inborn genetic diseases
  • c.1414-5G>A Single submitter Inborn genetic diseases
  • c.1644+1G>A Single submitter
  • c.709-12G>C Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.933+15C>T Single submitter neuronal ceroid lipofuscinosis 11
  • p.Ala324Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala582Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg101Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg110Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg19= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Arg418Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg478His Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Arg547= Single submitter Inborn genetic diseases
  • p.Arg574Cys Single submitter Inborn genetic diseases ⚠
  • p.Asp33Glu Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Asp581Val Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Cys221Ser Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Glu393= Single submitter frontotemporal dementia
  • p.Gly35Arg Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Gly453Arg Single submitter neuronal ceroid lipofuscinosis 11
  • p.Gly549= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.His340Leu Single submitter Inborn genetic diseases ⚠
  • p.His447= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.His96Arg Single submitter Inborn genetic diseases ⚠
  • p.Phe507= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Pro209Leu Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Pro34= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Pro451= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Pro578Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro85Ala Single submitter Inborn genetic diseases ⚠
  • p.Ser371Thr Single submitter Inborn genetic diseases ⚠
  • p.Thr268Met Single submitter Inborn genetic diseases ⚠
  • p.Thr506= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Val141Ile Single submitter Inborn genetic diseases ⚠
  • p.Val516= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Val550Ile Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Val90Met Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠

Benign 15

  • c.264+21G>A Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.350-50_350-47dup Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.462+24G>A Multiple submitters
  • c.708+8A>T Multiple submitters neuronal ceroid lipofuscinosis 11
  • c.835+7G>A Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.-38T>C Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.*78C>T Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Arg19Trp Multiple submitters Inborn genetic diseases
  • p.Thr138= Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.1180-3del Single submitter neuronal ceroid lipofuscinosis 11
  • c.463-6dup Single submitter neuronal ceroid lipofuscinosis 11
  • c.-56T>G Single submitter
  • c.-7-320C>G Single submitter
  • c.-8+46G>T Single submitter neuronal ceroid lipofuscinosis 11
  • c.-8+50dup Single submitter

Benign/Likely benign 18

  • c.264+7G>A Multiple submitters neuronal ceroid lipofuscinosis 11
  • c.933+11del Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.-72G>T Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.*280G>A Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Ala89= Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Arg433Gln Multiple submitters Inborn genetic diseases
  • p.Arg433Trp Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Asp128= Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Asp33= Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Gly515Ala Multiple submitters Inborn genetic diseases
  • p.Leu14= Multiple submitters Inborn genetic diseases
  • p.Pro235= Multiple submitters Inborn genetic diseases
  • p.Ser120= Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Ser120Tyr Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Ser301= Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Thr182= Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Thr182Met Multiple submitters Inborn genetic diseases
  • p.Thr76= Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

Likely benign 231

  • c.1414-6C>T Multiple submitters neuronal ceroid lipofuscinosis 11
  • c.349+12G>T Multiple submitters neuronal ceroid lipofuscinosis 11
  • c.349+32G>C Multiple submitters
  • c.463-17G>C Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.708+15G>A Multiple submitters neuronal ceroid lipofuscinosis 11
  • c.709-8C>T Multiple submitters neuronal ceroid lipofuscinosis 11
  • c.836-8C>T Multiple submitters neuronal ceroid lipofuscinosis 11
  • c.933+7A>T Multiple submitters neuronal ceroid lipofuscinosis 11
  • c.-45C>G Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Ala505= Multiple submitters Inborn genetic diseases
  • p.Ala69= Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Asn236= Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Asn265= Multiple submitters neuronal ceroid lipofuscinosis 11
  • p.Asn489= Multiple submitters neuronal ceroid lipofuscinosis 11
  • p.Asp108= Multiple submitters neuronal ceroid lipofuscinosis 11
  • p.Asp210= Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Asp376Asn Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Asp518= Multiple submitters neuronal ceroid lipofuscinosis 11
  • p.Cys171= Multiple submitters Inborn genetic diseases
  • p.Cys475= Multiple submitters Inborn genetic diseases
  • p.Cys495= Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Cys92= Multiple submitters Inborn genetic diseases
  • p.Gly230= Multiple submitters Inborn genetic diseases
  • p.Gly93= Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Gly95= Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.His513= Multiple submitters Inborn genetic diseases
  • p.His525= Multiple submitters neuronal ceroid lipofuscinosis 11
  • p.Ile422= Multiple submitters neuronal ceroid lipofuscinosis 11
  • p.Leu354= Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Phe131= Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Pro166= Multiple submitters neuronal ceroid lipofuscinosis 11
  • p.Pro323= Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Pro483= Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Ser205= Multiple submitters neuronal ceroid lipofuscinosis 11
  • p.Ser241= Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Thr18= Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Thr184= Multiple submitters neuronal ceroid lipofuscinosis 11
  • p.Thr327= Multiple submitters neuronal ceroid lipofuscinosis 11
  • p.Thr382= Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Thr409= Multiple submitters Inborn genetic diseases
  • p.Val143= Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Val8= Multiple submitters Inborn genetic diseases
  • c.1179+15del Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.1180-12C>T Single submitter neuronal ceroid lipofuscinosis 11
  • c.1180-16C>A Single submitter neuronal ceroid lipofuscinosis 11
  • c.1180-4C>A Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.1180-7C>G Single submitter neuronal ceroid lipofuscinosis 11
  • c.1180-9A>C Single submitter neuronal ceroid lipofuscinosis 11
  • c.138+13C>G Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.139-10_139-7del Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.139-12C>G Single submitter neuronal ceroid lipofuscinosis 11
  • c.139-13C>T Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.139-18T>C Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.139-20C>A Single submitter neuronal ceroid lipofuscinosis 11
  • c.139-7T>G Single submitter neuronal ceroid lipofuscinosis 11
  • c.1413+13C>G Single submitter
  • c.1413+20C>T Single submitter neuronal ceroid lipofuscinosis 11
  • c.1413+8C>T Single submitter neuronal ceroid lipofuscinosis 11
  • c.1414-5G>T Single submitter neuronal ceroid lipofuscinosis 11
  • c.1414-9C>T Single submitter neuronal ceroid lipofuscinosis 11
  • c.1644+10A>T Single submitter neuronal ceroid lipofuscinosis 11
  • c.1644+13C>A Single submitter neuronal ceroid lipofuscinosis 11
  • c.1644+20C>T Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.1645-13T>C Single submitter neuronal ceroid lipofuscinosis 11
  • c.1645-15C>G Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.1645-17C>T Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.1645-19C>T Single submitter neuronal ceroid lipofuscinosis 11
  • c.1645-20G>A Single submitter neuronal ceroid lipofuscinosis 11
  • c.1645-20G>T Single submitter neuronal ceroid lipofuscinosis 11
  • c.1645-40C>T Single submitter
  • c.1645-4C>T Single submitter neuronal ceroid lipofuscinosis 11
  • c.1645-8C>T Single submitter neuronal ceroid lipofuscinosis 11
  • c.264+12A>G Single submitter neuronal ceroid lipofuscinosis 11
  • c.264+13T>C Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.264+7G>C Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.265-13C>G Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.265-19G>T Single submitter
  • c.265-7T>C Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.349+11G>A Single submitter neuronal ceroid lipofuscinosis 11
  • c.349+12G>C Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.349+16G>C Single submitter neuronal ceroid lipofuscinosis 11
  • c.349+18del Single submitter neuronal ceroid lipofuscinosis 11
  • c.349+19T>C Single submitter neuronal ceroid lipofuscinosis 11
  • c.350-13A>G Single submitter neuronal ceroid lipofuscinosis 11
  • c.350-16G>A Single submitter
  • c.350-9T>C Single submitter neuronal ceroid lipofuscinosis 11
  • c.462+13G>A Single submitter neuronal ceroid lipofuscinosis 11
  • c.462+16A>G Single submitter neuronal ceroid lipofuscinosis 11
  • c.462+20G>A Single submitter neuronal ceroid lipofuscinosis 11
  • c.462+20G>T Single submitter
  • c.463-11T>C Single submitter neuronal ceroid lipofuscinosis 11
  • c.463-5C>G Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.463-8T>A Single submitter neuronal ceroid lipofuscinosis 11
  • c.599-10C>T Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.599-11T>A Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.599-18C>T Single submitter neuronal ceroid lipofuscinosis 11
  • c.599-54G>A Single submitter
  • c.599-8T>C Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.708+20C>T Single submitter neuronal ceroid lipofuscinosis 11
  • c.708+8A>C Single submitter neuronal ceroid lipofuscinosis 11
  • c.709-17C>T Single submitter neuronal ceroid lipofuscinosis 11
  • c.709-5C>T Single submitter neuronal ceroid lipofuscinosis 11
  • c.835+9G>A Single submitter neuronal ceroid lipofuscinosis 11
  • c.836-14T>G Single submitter neuronal ceroid lipofuscinosis 11
  • c.836-19CT[2] Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.836-5C>G Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.836-7C>T Single submitter neuronal ceroid lipofuscinosis 11
  • c.933+10G>A Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.933+11G>A Single submitter neuronal ceroid lipofuscinosis 11
  • c.933+12T>G Single submitter
  • c.933+15C>G Single submitter
  • c.933+16G>A Single submitter neuronal ceroid lipofuscinosis 11
  • c.933+19T>G Single submitter
  • c.933+7A>G Single submitter
  • c.933+7del Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.934-11A>T Single submitter neuronal ceroid lipofuscinosis 11
  • c.934-12dup Single submitter neuronal ceroid lipofuscinosis 11
  • c.934-4C>T Single submitter neuronal ceroid lipofuscinosis 11
  • c.934-8del Single submitter neuronal ceroid lipofuscinosis 11
  • c.934-9C>T Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.-7-75A>G Single submitter
  • c.-8+16C>T Single submitter
  • c.-8+236G>A Single submitter
  • p.Ala107= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Ala169= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Ala211Thr Single submitter
  • p.Ala276= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Ala29= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Ala465= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Ala509= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Ala561= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Ala566= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Ala577= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Ala588= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Arg101= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Arg195Lys Single submitter Inborn genetic diseases
  • p.Arg198Gly Single submitter
  • p.Arg212= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Arg43= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Arg478= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Arg510= Single submitter
  • p.Arg555= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Arg568Lys Single submitter Inborn genetic diseases
  • p.Arg574= Single submitter
  • p.Arg590= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Asp160= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Asp363= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Asp47= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Asp581= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Cys126= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Cys158= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Cys247= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Cys26= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Cys297= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Cys404= Single submitter
  • p.Cys488= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Cys558= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Cys565= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Gln194= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Gln249= Single submitter
  • p.Gln62= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Glu427= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Glu520= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Gly109= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Gly117= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Gly183= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Gly23= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Gly293= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Gly36= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Gly407= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Gly562= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Gly569= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Gly59= Single submitter
  • p.Gly70= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Gly79= Single submitter neuronal ceroid lipofuscinosis 11
  • p.His167= Single submitter neuronal ceroid lipofuscinosis 11
  • p.His185= Single submitter neuronal ceroid lipofuscinosis 11
  • p.His245= Single submitter neuronal ceroid lipofuscinosis 11
  • p.His318= Single submitter neuronal ceroid lipofuscinosis 11
  • p.His340= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.His56= Single submitter neuronal ceroid lipofuscinosis 11
  • p.His66= Single submitter neuronal ceroid lipofuscinosis 11
  • p.His97= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Ile442= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Leu173= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Leu191= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Leu271= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Leu299= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Leu32= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Leu573= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Leu584= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Lys347= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Phe113= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Phe526= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Phe86= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Pro134= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Pro186= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Pro209= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Pro248= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Pro291= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Pro357= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Pro390= Single submitter
  • p.Pro458= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Pro587= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Ser203= Single submitter
  • p.Ser219= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Ser375= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Ser383= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Ser398= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Ser459= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Ser494= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Ser6= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Ser68= Single submitter
  • p.Ser81= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Thr180= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Thr220= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Thr251= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Thr268= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Thr272= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Thr295= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Thr330= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Thr448= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Thr80= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Tyr294= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Tyr408= Single submitter
  • p.Val141= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Val364= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Val423= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Val499= Single submitter neuronal ceroid lipofuscinosis 11
  • c.-14G>C No assertion criteria
  • c.-8+13C>A No assertion criteria GRN-related disorder

Uncertain significance 348

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

  • c.1179+6T>C Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.836-3C>T Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.-100A>G Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.-22C>T Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Ala266Pro Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Ala276Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala324Val Multiple submitters neuronal ceroid lipofuscinosis 11 ⚠
  • p.Ala505Gly Multiple submitters neuronal ceroid lipofuscinosis 11 ⚠
  • p.Ala561Gly Multiple submitters neuronal ceroid lipofuscinosis 11
  • p.Ala566Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Arg101Trp Multiple submitters neuronal ceroid lipofuscinosis 11 ⚠
  • p.Arg177Cys Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Arg177His Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Arg212Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg212Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg298Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg298His Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Arg432Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg432His Multiple submitters neuronal ceroid lipofuscinosis 11 ⚠
  • p.Arg43His Multiple submitters neuronal ceroid lipofuscinosis 11 ⚠
  • p.Arg478Cys Multiple submitters Inborn genetic diseases
  • p.Arg564Cys Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Arg564His Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Arg574His Multiple submitters neuronal ceroid lipofuscinosis 11 ⚠
  • p.Arg579Cys Multiple submitters neuronal ceroid lipofuscinosis 11 ⚠
  • p.Arg579His Multiple submitters Inborn genetic diseases ⚠
  • p.Asn119del Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 3
  • p.Asp144Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp94Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Cys139Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Cys20Arg Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Cys231Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Cys239Phe Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Cys260Arg Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Cys521Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Cys558Asp Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Gln311= Multiple submitters neuronal ceroid lipofuscinosis 11
  • p.Gln415Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Gln446Arg Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Glu287Asp Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Glu346del Multiple submitters neuronal ceroid lipofuscinosis 11
  • p.Glu496Lys Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Gly148Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly168Ser Multiple submitters GRN-related disorder ⚠
  • p.Gly414Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly443Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly70Ser Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Gly93Arg Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.His163Tyr Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.His185Arg Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.His402Asp Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.His480Tyr Multiple submitters neuronal ceroid lipofuscinosis 11 ⚠
  • p.Leu261Phe Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Leu53Val Multiple submitters neuronal ceroid lipofuscinosis 11 ⚠
  • p.Leu57Arg Multiple submitters neuronal ceroid lipofuscinosis 11 ⚠
  • p.Lys190Gln Multiple submitters neuronal ceroid lipofuscinosis 11 ⚠
  • p.Lys273Glu Multiple submitters neuronal ceroid lipofuscinosis 11
  • p.Lys571Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Met207Thr Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Phe136Val Multiple submitters neuronal ceroid lipofuscinosis 11 ⚠
  • p.Phe86Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro127Ala Multiple submitters neuronal ceroid lipofuscinosis 11 ⚠
  • p.Pro134Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro166Leu Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Pro233Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Pro34Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Pro34Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro430Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Pro451Leu Multiple submitters neuronal ceroid lipofuscinosis 11 ⚠
  • p.Pro458Leu Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Pro483Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro587fs Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Pro587Ser Multiple submitters neuronal ceroid lipofuscinosis 11 ⚠
  • p.Pro85Leu Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Ser111Phe Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Ser205Leu Multiple submitters neuronal ceroid lipofuscinosis 11 ⚠
  • p.Ser262Pro Multiple submitters neuronal ceroid lipofuscinosis 11 ⚠
  • p.Ser375del Multiple submitters Inborn genetic diseases
  • p.Ser398Leu Multiple submitters neuronal ceroid lipofuscinosis 11 ⚠
  • p.Ser68Pro Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Thr138Met Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Thr18Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr238Ile Multiple submitters GRN-related disorder ⚠
  • p.Thr251Ser Multiple submitters neuronal ceroid lipofuscinosis 11 ⚠
  • p.Thr310Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Thr330Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr3Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr3Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr409Met Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Thr487Ile Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Thr80Ser Multiple submitters neuronal ceroid lipofuscinosis 11 ⚠
  • p.Tyr294Cys Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Tyr39Phe Multiple submitters neuronal ceroid lipofuscinosis 11 ⚠
  • p.Tyr546His Multiple submitters ⚠
  • p.Val121Met Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Val452Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Val490Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val514Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val519Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val77Ile Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Val8Met Multiple submitters GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • c.1179+4_1179+8del Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.1180-8C>A Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.264+3G>T Single submitter neuronal ceroid lipofuscinosis 11
  • c.264+6C>T Single submitter neuronal ceroid lipofuscinosis 11
  • c.349+15T>A Single submitter neuronal ceroid lipofuscinosis 11
  • c.349+6G>A Single submitter
  • c.708+2dup Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.835+14G>C Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.933+5C>G Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.933+5C>T Single submitter neuronal ceroid lipofuscinosis 11
  • c.-179G>C Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.-18G>A Single submitter
  • c.-203G>C Single submitter
  • c.-212G>A Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.(?_-41 Single submitter
  • c.-8+3A>C Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.-8+5G>A Single submitter neuronal ceroid lipofuscinosis 11
  • c.*12G>T Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.*246A>G Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.*273C>T Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • c.*30G>A Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Ala16Val Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Ala188Thr Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Ala199Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala211Val Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Ala266Thr Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Ala266Val Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Ala29Val Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Ala312Val Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Ala359Val Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Ala37Val Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Ala484Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala484Thr Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Ala577Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala577Val Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Ala69Asp Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Ala9Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala9Val Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Arg19Gln Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Arg214Gln Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Arg214Trp Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Arg418Pro Single submitter neuronal ceroid lipofuscinosis 11
  • p.Arg510Cys Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Arg510His Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Arg535Gln Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Arg535Ter Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Arg538Gln Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Arg547Cys Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Arg555Gln Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Arg555Gly Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Arg555Trp Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Arg556His Single submitter Inborn genetic diseases ⚠
  • p.Arg575Thr Single submitter ⚠
  • p.Asn118Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn197Lys Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Asn236Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn368del Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Asp128His Single submitter Inborn genetic diseases ⚠
  • p.Asp217Val Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Asp242Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp242His Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Asp250Ala Single submitter Inborn genetic diseases ⚠
  • p.Asp254Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp399Glu Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Asp47Asn Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Asp529del Single submitter
  • p.Asp536Asn Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Asp554Gly Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Asp581Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp64Asn Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Cys158Tyr Single submitter ⚠
  • p.Cys164Arg Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Cys165Arg Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Cys222Tyr Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Cys232Arg Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Cys247Tyr Single submitter ⚠
  • p.Cys26Phe Single submitter ⚠
  • p.Cys335Tyr Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Cys366Tyr Single submitter ⚠
  • p.Cys378Ser Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Cys42Gly Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Cys444Arg Single submitter ⚠
  • p.Cys475Arg Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Cys481Tyr Single submitter ⚠
  • p.Cys495Arg Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Cys521Gly Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Cys534Ser Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Cys543Trp Single submitter ⚠
  • p.Cys544Arg Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Cys558Gly Single submitter ⚠
  • p.Cys558Tyr Single submitter Inborn genetic diseases ⚠
  • p.Cys61Tyr Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Cys84Arg Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Cys92Arg Single submitter Inborn genetic diseases ⚠
  • p.Cys98Tyr Single submitter ⚠
  • p.Gln194Arg Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Gln311Leu Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Gln337Arg Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Gln337His Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Gln341His Single submitter Inborn genetic diseases ⚠
  • p.Gln380Glu Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Gln406Glu Single submitter Inborn genetic diseases ⚠
  • p.Gln415Leu Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Gln417His Single submitter ⚠
  • p.Gln446Leu Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Gln479Arg Single submitter ⚠
  • p.Gln548Ter Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Glu132Lys Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Glu223Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu316Lys Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Glu336Gln Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Glu393Asp Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Glu413Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu421Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu421Lys Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Glu427Asp Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Glu476Lys Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Glu498Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu520Asp Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Glu576Lys Single submitter neuronal ceroid lipofuscinosis 11
  • p.Glu88Ala Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Gly102Asp Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Gly109Arg Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Gly117Asp Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Gly13Ala Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Gly13Glu Single submitter
  • p.Gly17Ala Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Gly227Glu Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Gly293Asp Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Gly305Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly333Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly333Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly333Val Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Gly384= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Gly414Arg Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Gly425Glu Single submitter ⚠
  • p.Gly443Arg Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Gly485Asp Single submitter neuronal ceroid lipofuscinosis 11
  • p.Gly522Arg Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Gly524Arg Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Gly524Val Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Gly540Val Single submitter ⚠
  • p.Gly569Asp Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Gly59Ala Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Gly70Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly93Glu Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.His277Leu Single submitter Inborn genetic diseases ⚠
  • p.His340Arg Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.His471= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.His480Arg Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.His557Gln Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.His557Tyr Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.His71Arg Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Ile391Val Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Ile442Met Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Ile442Val Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Leu10Phe Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Leu270Phe Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Leu360Phe Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Leu469= Single submitter
  • p.Leu592Pro Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Leu592Val Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Lys361Glu Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Lys491Gln Single submitter ⚠
  • p.Met152_Pro153delinsIleSer Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Met234Arg Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Met286Arg Single submitter Inborn genetic diseases ⚠
  • p.Met286Thr Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Met345Ile Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Phe131Leu Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Pro181Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro192Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro21Leu Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Pro225Ser Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Pro248Leu Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Pro275His Single submitter Inborn genetic diseases ⚠
  • p.Pro275Leu Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Pro275Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro339Ala Single submitter ⚠
  • p.Pro34His Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Pro34Ser Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Pro373Thr Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Pro390Leu Single submitter ⚠
  • p.Pro405Ser Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Pro439Arg Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Pro458Arg Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Pro470Leu Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Pro470Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro504Ala Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Pro504Leu Single submitter neuronal ceroid lipofuscinosis 11 ⚠
  • p.Pro50Leu Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Pro578= Single submitter neuronal ceroid lipofuscinosis 11
  • p.Ser116= Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • p.Ser129Gly Single submitter Inborn genetic diseases ⚠
  • p.Ser203Cys Single submitter Inborn genetic diseases ⚠
  • p.Ser258Asn Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Ser301Leu Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Ser353Arg Single submitter GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ⚠
  • p.Ser375Cys Single submitter Inborn genetic diseases ⚠