Sugi Variant

Sugi Variant/SQSTM1

SQSTM1 — 839 ClinVar variants

All ClinVar germline SQSTM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 379 flagged for review →

36 Pathogenic · 4 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 36 Conflicting · 43 Benign · 16 Benign/Likely benign · 261 Likely benign · 427 Uncertain significance

Full SQSTM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 379

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 1

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

Predictors agree, ClinVar conflicts 14

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

Predictors lean, ClinVar uncertain 271

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 271

Predictors split 93

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

All SQSTM1 variants

Pathogenic 36

  • p.Arg139fs Multiple submitters neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
  • p.Glu104fs Multiple submitters Neurodegeneration with ataxia
  • p.Glu389Gln Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Met404Val Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Ser176fs Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Ser275fs Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.1165+1G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Gln325Ter Single submitter Paget disease of bone 2, early-onset
  • p.Gln371Ter Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Glu274Ter Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Glu280Ter Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Glu301fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Glu301Ter Single submitter Paget disease of bone 2, early-onset
  • p.Glu327fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Glu36Ter Single submitter neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
  • p.Glu379fs Single submitter neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
  • p.Glu82Ter Single submitter Paget disease of bone 2, early-onset
  • p.Gly191Ter Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Met404Thr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Met87fs Single submitter Paget disease of bone 2, early-onset
  • p.Pro392fs Single submitter Paget disease of bone 2, early-onset
  • p.Ser229Ter Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Ser332Ter Single submitter Paget disease of bone 2, early-onset
  • p.Trp206fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Tyr383Ter Single submitter Paget disease of bone 3
  • p.Val255fs Single submitter Paget disease of bone 2, early-onset
  • p.Val271_Ser272insTer Single submitter Paget disease of bone 2, early-onset
  • p.Val271fs Single submitter Paget disease of bone 2, early-onset
  • p.Val51fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.301+2T>A No assertion criteria neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
  • p.Arg312Ter No assertion criteria neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
  • p.Glu409Ter No assertion criteria Paget disease of bone 3
  • p.Gly262fs No assertion criteria neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
  • p.Lys378Ter No assertion criteria Paget disease of bone 3
  • p.Met1Lys No assertion criteria neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
  • p.Ser294fs No assertion criteria neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset

Pathogenic/Likely pathogenic 4

  • c.301+1G>T Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Arg96Ter Multiple submitters neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
  • p.Asp391fs Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Glu396Ter Multiple submitters Paget disease of bone 2, early-onset

Likely pathogenic 16

  • c.205+2T>C Single submitter Paget disease of bone 2, early-onset
  • c.206-1G>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.206-2A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.531+1G>A Single submitter
  • c.969+1G>C Single submitter neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
  • c.970-2A>G Single submitter Paget disease of bone 2, early-onset
  • p.Glu389fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Gly376_Leu377insTer Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 3
  • p.Gly42fs Single submitter
  • p.His123fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 3
  • p.Ile20fs Single submitter
  • p.Leu382fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Leu394fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Leu83fs Single submitter neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
  • p.Phe77fs Single submitter
  • p.Asp336fs No assertion criteria SQSTM1-related disorder

Conflicting classifications of pathogenicity 36

  • c.1166-2A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.205+7G>C Single submitter Paget disease of bone 2, early-onset
  • c.302-4G>A Single submitter Paget disease of bone 2, early-onset
  • c.-18G>A Single submitter Paget disease of bone 3
  • p.Ala225Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Ala245Val Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Ala303Val Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Ala308= Single submitter Paget disease of bone 2, early-onset
  • p.Ala33Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Arg110Cys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Arg183Cys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Arg183His Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Asn125Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Asn205= Single submitter Paget disease of bone 3
  • p.Cys151Gly Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Cys154= Single submitter Paget disease of bone 3
  • p.Glu280del Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Glu319fs Single submitter SQSTM1-related disorder
  • p.Glu352Ter Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Gly204= Single submitter Paget disease of bone 3
  • p.Gly363Glu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Gly411Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Gly425Arg Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Ile99Leu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Met1Val Single submitter Paget disease of bone 2, early-onset
  • p.Pro124= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Pro171= Single submitter Paget disease of bone 3
  • p.Pro387Leu Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Pro392Leu Single submitter SQSTM1-related multisystem proteinopathy ⚠
  • p.Ser275Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser332= Single submitter Paget disease of bone 2, early-onset
  • p.Ser370Pro Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Ser403Thr Single submitter Inborn genetic diseases ⚠
  • p.Thr304= Single submitter Paget disease of bone 3
  • p.Val153Ile Single submitter Paget disease of bone 3 ⚠
  • p.Val255Leu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠

Benign 43

Benign/Likely benign 16

  • c.1166-14_1166-11del Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.301+12C>G Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Ala117Val Multiple submitters Paget disease of bone 2, early-onset
  • p.Arg321Cys Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Arg415= Multiple submitters Paget disease of bone 3
  • p.Glu274Asp Multiple submitters Paget disease of bone 3
  • p.Gly263= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Leu316= Multiple submitters Paget disease of bone 2, early-onset
  • p.Leu74= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Lys238Glu Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Pro273= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Pro392= Multiple submitters myopathy, distal, with rimmed vacuoles
  • p.Ser318= Multiple submitters Paget disease of bone 3
  • p.Ser328= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Val144Ile Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Val346= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1

Likely benign 261

  • c.1165+7G>T Multiple submitters Paget disease of bone 2, early-onset
  • c.205+11C>G Multiple submitters Paget disease of bone 2, early-onset
  • c.206-11A>G Multiple submitters Paget disease of bone 2, early-onset
  • c.302-269C>T Multiple submitters
  • c.302-5T>C Multiple submitters Paget disease of bone 2, early-onset
  • c.302-96C>T Multiple submitters
  • c.532-19C>T Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.674-5C>T Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.755-7C>T Multiple submitters Paget disease of bone 2, early-onset
  • c.969+35G>A Multiple submitters
  • c.-47-2056G>C Multiple submitters
  • c.-47-2160G>C Multiple submitters
  • c.-47-2240G>A Multiple submitters
  • c.*83G>A Multiple submitters Paget disease of bone 3
  • p.Ala426= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Asp368= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Cys128= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Glu396= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Gly252= Multiple submitters Paget disease of bone 2, early-onset
  • p.Gly410= Multiple submitters Paget disease of bone 2, early-onset
  • p.Gly72= Multiple submitters Paget disease of bone 2, early-onset
  • p.His190= Multiple submitters Paget disease of bone 2, early-onset
  • p.Ile424= Multiple submitters SQSTM1-related disorder
  • p.Leu166= Multiple submitters Paget disease of bone 2, early-onset
  • p.Leu428= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Pro112= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Pro203= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Pro270= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Pro359= Multiple submitters Paget disease of bone 2, early-onset
  • p.Ser152= Multiple submitters Paget disease of bone 2, early-onset
  • p.Ser180= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Ser361= Multiple submitters Inborn genetic diseases
  • p.Thr221= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Tyr89= Multiple submitters Paget disease of bone 2, early-onset
  • c.1165+10C>T Single submitter Paget disease of bone 2, early-onset
  • c.1165+12A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.1165+13A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.1165+15A>T Single submitter Paget disease of bone 2, early-onset
  • c.1165+251G>A Single submitter
  • c.1165+9del Single submitter Paget disease of bone 2, early-onset
  • c.1166-12C>T Single submitter Paget disease of bone 2, early-onset
  • c.1166-20C>T Single submitter Paget disease of bone 2, early-onset
  • c.1166-6C>T Single submitter Paget disease of bone 2, early-onset
  • c.205+14G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.205+16A>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.205+7G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.206-4C>G Single submitter Paget disease of bone 2, early-onset
  • c.206-4C>T Single submitter Paget disease of bone 2, early-onset
  • c.206-7_206-4del Single submitter Paget disease of bone 2, early-onset
  • c.206-7A>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.206-8C>T Single submitter Paget disease of bone 2, early-onset
  • c.301+10T>A Single submitter Paget disease of bone 2, early-onset
  • c.301+12C>T Single submitter Paget disease of bone 2, early-onset
  • c.301+13_301+24del Single submitter Paget disease of bone 2, early-onset
  • c.301+20G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.301+8G>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.302-10C>A Single submitter Paget disease of bone 2, early-onset
  • c.302-10C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.302-11C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.302-13A>G Single submitter Paget disease of bone 2, early-onset
  • c.302-13dup Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.302-15T>C Single submitter Paget disease of bone 2, early-onset
  • c.302-17C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.302-20T>C Single submitter Paget disease of bone 2, early-onset
  • c.531+14C>G Single submitter Paget disease of bone 2, early-onset
  • c.531+15dup Single submitter Paget disease of bone 2, early-onset
  • c.531+15T>C Single submitter Paget disease of bone 2, early-onset
  • c.531+16G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.531+16G>T Single submitter Paget disease of bone 2, early-onset
  • c.531+7A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.532-14A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.532-18T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.532-4C>T Single submitter
  • c.532-5C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.532-6C>T Single submitter Paget disease of bone 2, early-onset
  • c.532-7C>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.532-7C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.532-9C>T Single submitter Paget disease of bone 2, early-onset
  • c.673+10G>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.673+127A>G Single submitter
  • c.673+15G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.673+19C>A Single submitter Paget disease of bone 2, early-onset
  • c.673+19C>T Single submitter Paget disease of bone 2, early-onset
  • c.673+237T>G Single submitter
  • c.673+287C>T Single submitter
  • c.673+8T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.673+9T>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.674-11A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.674-13G>A Single submitter Paget disease of bone 2, early-onset
  • c.674-17C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.674-7A>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.754+10C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.754+11C>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.754+11C>T Single submitter Paget disease of bone 2, early-onset
  • c.754+134C>T Single submitter
  • c.754+13C>A Single submitter Paget disease of bone 2, early-onset
  • c.754+13C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.754+18C>T Single submitter Paget disease of bone 2, early-onset
  • c.754+213C>A Single submitter
  • c.754+8C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.755-10C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.755-11T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.755-12C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.755-13C>T Single submitter Paget disease of bone 2, early-onset
  • c.755-15C>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.755-17T>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.755-20C>G Single submitter Paget disease of bone 2, early-onset
  • c.755-4C>T Single submitter Paget disease of bone 2, early-onset
  • c.755-6C>T Single submitter Paget disease of bone 2, early-onset
  • c.755-8G>A Single submitter Paget disease of bone 2, early-onset
  • c.755-8G>T Single submitter Paget disease of bone 2, early-onset
  • c.755-9C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.969+14C>T Single submitter Paget disease of bone 2, early-onset
  • c.969+19C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.970-104C>T Single submitter
  • c.970-13_970-12del Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.970-13A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.970-14G>A Single submitter Paget disease of bone 2, early-onset
  • c.970-18T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.970-20C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.970-4C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.970-8T>C Single submitter Paget disease of bone 2, early-onset
  • c.-47-2192T>C Single submitter
  • c.-47-2236del Single submitter
  • c.-47-2346C>T Single submitter
  • c.*1111G>C Single submitter Paget disease of bone 3
  • c.*66A>C Single submitter Paget disease of bone 3
  • c.*786G>A Single submitter Paget disease of bone 3
  • p.Ala117= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Ala213= Single submitter Paget disease of bone 2, early-onset
  • p.Ala247= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Ala38= Single submitter Paget disease of bone 2, early-onset
  • p.Ala39= Single submitter Paget disease of bone 2, early-onset
  • p.Ala390= Single submitter Paget disease of bone 2, early-onset
  • p.Ala427= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Ala57= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Ala65= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Ala8= Single submitter Paget disease of bone 2, early-onset
  • p.Ala86= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Arg107= Single submitter Paget disease of bone 2, early-onset
  • p.Arg21= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Arg217= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Arg312= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Asn125= Single submitter Paget disease of bone 2, early-onset
  • p.Asn235= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Asn239= Single submitter Paget disease of bone 2, early-onset
  • p.Asn299= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Asn421= Single submitter Paget disease of bone 2, early-onset
  • p.Asp129= Single submitter Paget disease of bone 2, early-onset
  • p.Asp15= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Asp335= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Asp336= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Asp423= Single submitter Paget disease of bone 2, early-onset
  • p.Asp71= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Asp80= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Cys105= Single submitter Paget disease of bone 2, early-onset
  • p.Cys113= Single submitter Paget disease of bone 2, early-onset
  • p.Cys142= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Cys26= Single submitter Paget disease of bone 2, early-onset
  • p.Gln400= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Gln432= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Glu104= Single submitter Paget disease of bone 2, early-onset
  • p.Glu155= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Glu19= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Glu242= Single submitter Paget disease of bone 2, early-onset
  • p.Glu279= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Glu309= Single submitter Paget disease of bone 2, early-onset
  • p.Glu32= Single submitter Paget disease of bone 2, early-onset
  • p.Glu36Lys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Gly133= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Gly137= Single submitter Paget disease of bone 2, early-onset
  • p.Gly158= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Gly162= Single submitter Paget disease of bone 2, early-onset
  • p.Gly219= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Gly241= Single submitter Paget disease of bone 2, early-onset
  • p.Gly262= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Gly297= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Gly320= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Gly334= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Gly363= Single submitter Paget disease of bone 2, early-onset
  • p.Gly373= Single submitter
  • p.Gly376= Single submitter Paget disease of bone 2, early-onset
  • p.Gly40= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Gly405= Single submitter Paget disease of bone 2, early-onset
  • p.Gly42= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Gly61= Single submitter Paget disease of bone 2, early-onset
  • p.Gly62= Single submitter Paget disease of bone 2, early-onset
  • p.His109= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.His160= Single submitter Paget disease of bone 2, early-onset
  • p.His163= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.His174= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.His261= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.His66= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Ile127= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Ile257= Single submitter Paget disease of bone 2, early-onset
  • p.Ile314= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Ile94= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Leu10= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Leu11= Single submitter Paget disease of bone 2, early-onset
  • p.Leu175= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Leu251= Single submitter Paget disease of bone 2, early-onset
  • p.Leu307= Single submitter Paget disease of bone 2, early-onset
  • p.Leu341= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Leu382= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Leu386= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Leu4= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Leu402= Single submitter Paget disease of bone 2, early-onset
  • p.Leu417= Single submitter Paget disease of bone 2, early-onset
  • p.Leu440= Single submitter Paget disease of bone 2, early-onset
  • p.Leu58= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Lys13= Single submitter Paget disease of bone 2, early-onset
  • p.Lys295= Single submitter Paget disease of bone 2, early-onset
  • p.Lys344= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Lys378= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Met401Leu Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Phe172= Single submitter Paget disease of bone 2, early-onset
  • p.Phe193= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Phe23= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Phe55= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Pro111= Single submitter Paget disease of bone 2, early-onset
  • p.Pro134= Single submitter Paget disease of bone 2, early-onset
  • p.Pro196= Single submitter Paget disease of bone 2, early-onset
  • p.Pro202= Single submitter Paget disease of bone 2, early-onset
  • p.Pro218= Single submitter Paget disease of bone 2, early-onset
  • p.Pro228= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Pro232= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Pro29= Single submitter Paget disease of bone 2, early-onset
  • p.Pro296= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Pro374= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Pro384= Single submitter Paget disease of bone 2, early-onset
  • p.Pro387= Single submitter Paget disease of bone 2, early-onset
  • p.Pro41= Single submitter
  • p.Pro43= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Pro438= Single submitter Paget disease of bone 2, early-onset
  • p.Pro439= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Pro56= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Ser143= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Ser182= Single submitter Paget disease of bone 2, early-onset
  • p.Ser207= Single submitter Paget disease of bone 2, early-onset
  • p.Ser229= Single submitter Paget disease of bone 2, early-onset
  • p.Ser24= Single submitter Paget disease of bone 2, early-onset
  • p.Ser28= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Ser3= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Ser306= Single submitter Paget disease of bone 2, early-onset
  • p.Ser365= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Ser434= Single submitter Paget disease of bone 2, early-onset
  • p.Ser78= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Ter441= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Thr164= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Thr269= Single submitter Paget disease of bone 2, early-onset
  • p.Thr339= Single submitter
  • p.Thr350= Single submitter Paget disease of bone 2, early-onset
  • p.Thr414= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Thr430= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Thr5= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Thr84= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Tyr148= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Tyr383= Single submitter Paget disease of bone 2, early-onset
  • c.1166-23T>C No assertion criteria SQSTM1-related disorder
  • c.-6C>T No assertion criteria SQSTM1-related disorder
  • p.Thr419= No assertion criteria SQSTM1-related disorder

Uncertain significance 427

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

  • c.1166-5G>A Multiple submitters Paget disease of bone 3
  • c.205+14G>T Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.754+5G>A Multiple submitters Paget disease of bone 2, early-onset
  • c.970del Multiple submitters myopathy, distal, with rimmed vacuoles
  • c.*710G>C Multiple submitters Paget disease of bone 3
  • p.Ala16Thr Multiple submitters SQSTM1-related disorder ⚠
  • p.Ala17Val Multiple submitters Paget disease of bone 3 ⚠
  • p.Ala2Val Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Ala308Val Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Ala33Gly Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Ala33Thr Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Ala380Val Multiple submitters SQSTM1-related disorder ⚠
  • p.Ala381Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala426Val Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Ala427Thr Multiple submitters neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset ⚠
  • p.Ala52Ser Multiple submitters SQSTM1-related disorder ⚠
  • p.Ala53Val Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Arg106Trp Multiple submitters Paget disease of bone 3 ⚠
  • p.Arg107Gln Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Arg110His Multiple submitters SQSTM1-related disorder ⚠
  • p.Arg139Cys Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Arg139His Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Arg186Gln Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Arg209Cys Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 3 ⚠
  • p.Arg209His Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Arg212Cys Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Arg212Gly Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Arg212His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg217Cys Multiple submitters Paget disease of bone 3 ⚠
  • p.Arg217His Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Arg267Cys Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Arg267His Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Arg321His Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Arg393Trp Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Arg68= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Asn120Ile Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Asn235Asp Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Asp149Asn Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Asp258Asn Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Asp329Gly Multiple submitters Paget disease of bone 3 ⚠
  • p.Asp335Glu Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Asp391Gly Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Asp92Gly Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Cys289Tyr Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Gln305Arg Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Gln418His Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Glu177Gln Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Glu345del Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Glu362Lys Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Glu45Gln Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Glu70Asp Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Gly12Val Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Gly191Arg Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Gly262Arg Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Gly302Ser Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Gly320Glu Multiple submitters Paget disease of bone 3 ⚠
  • p.Gly333Glu Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Gly334del Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Gly351Ala Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Ile257Val Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Leu268Val Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Leu377Val Multiple submitters SQSTM1-related disorder ⚠
  • p.Lys103Arg Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Lys238del Multiple submitters Paget disease of bone 2, early-onset
  • p.Lys344Gln Multiple submitters Paget disease of bone 2, early-onset
  • p.Met311Ile Multiple submitters Inborn genetic diseases
  • p.Met358Ile Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Pro111Leu Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Pro118Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro146Ser Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Pro211Arg Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Pro211del Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Pro211Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro228Leu Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Pro348Leu Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Pro384Ser Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Pro41Leu Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Pro438Leu Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Pro439Leu Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Pro43Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ser143Arg Multiple submitters Paget disease of bone 3 ⚠
  • p.Ser180Leu Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Ser207Asn Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Ser266Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser276Phe Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Ser276Tyr Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Ser28Arg Multiple submitters Paget disease of bone 3 ⚠
  • p.Ser349Thr Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Ser88Phe Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Thr221Met Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Thr269Ile Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Thr430Pro Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Tyr9Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Val144Asp Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Val188Met Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Val240Ala Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Val271Ile Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Val346Ala Multiple submitters Paget disease of bone 2, early-onset ⚠
  • p.Val75Ile Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Val90Met Multiple submitters Inborn genetic diseases ⚠
  • c.1166-1G>A Single submitter Paget disease of bone 2, early-onset
  • c.205+9G>A Single submitter Paget disease of bone 3
  • c.206-6A>G Single submitter
  • c.206-9A>G Single submitter Paget disease of bone 2, early-onset
  • c.301+11_301+12delinsCT Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.301+5G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.301+6G>C Single submitter Paget disease of bone 2, early-onset
  • c.531+6C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.674-18T>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.674-8A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • c.970-1G>C Single submitter
  • c.-17C>T Single submitter Paget disease of bone 3
  • c.-26C>T Single submitter Paget disease of bone 3
  • c.-27C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 3
  • c.-5T>G Single submitter
  • c.-7G>C Single submitter Paget disease of bone 3
  • c.*1141G>A Single submitter Paget disease of bone 3 ⚠
  • c.*1235T>C Single submitter Paget disease of bone 3 ⚠
  • c.*1273C>T Single submitter Paget disease of bone 3
  • c.*1336C>T Single submitter Paget disease of bone 3
  • c.*1353C>T Single submitter Paget disease of bone 3
  • c.*1394C>T Single submitter Paget disease of bone 3
  • c.*1480C>T Single submitter Paget disease of bone 3
  • c.*175T>G Single submitter Paget disease of bone 3
  • c.*39C>G Single submitter Paget disease of bone 3
  • c.*60C>T Single submitter Paget disease of bone 3
  • c.*624T>G Single submitter Paget disease of bone 3
  • c.*722T>C Single submitter Paget disease of bone 3
  • c.*82C>T Single submitter Paget disease of bone 3
  • c.*986C>T Single submitter ⚠
  • p.Ala117del Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Ala167_Phe168del Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Ala167Thr Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Ala225Pro Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Ala247Pro Single submitter SQSTM1-related disorder ⚠
  • p.Ala247Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Ala2Thr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Ala303Thr Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Ala308Glu Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Ala315Thr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Ala315Val Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Ala33Glu Single submitter Paget disease of bone 3 ⚠
  • p.Ala33Ser Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Ala35Gly Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Ala35Thr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Ala35Val Single submitter SQSTM1-related disorder ⚠
  • p.Ala37_Ala38insGluAlaGluAlaGluAla Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Ala37_Ala39delinsPro Single submitter Paget disease of bone 2, early-onset
  • p.Ala37Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Ala38Glu Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Ala390Thr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Ala39Val Single submitter ⚠
  • p.Ala426Thr Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Ala65Thr Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Ala86Asp Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Ala86Pro Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Ala8Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg106Gln Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Arg107Trp Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Arg119Cys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Arg119Gly Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Arg119His Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Arg119Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg161Gln Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Arg161Leu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Arg161Trp Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Arg183Leu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Arg186Trp Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Arg18His Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Arg209Pro Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Arg212Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg212Pro Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Arg22His Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Arg265_Ser266delinsSerArg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Arg265del Single submitter Paget disease of bone 2, early-onset
  • p.Arg312Gly Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Arg312Lys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Arg393Gln Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Arg415Gly Single submitter ⚠
  • p.Arg59Gln Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Asn125Ile Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Asn132Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Asn330Asp Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Asn330Thr Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Asp129Asn Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Asp129Tyr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Asp149Gly Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Asp15Asn Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Asp256Ala Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Asp256Gly Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Asp256Leu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Asp258Gly Single submitter SQSTM1-related disorder ⚠
  • p.Asp292Glu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Asp329Asn Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Asp336Asn Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Asp337del Single submitter Paget disease of bone 2, early-onset
  • p.Asp347Asn Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Asp368Glu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Asp391Asn Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Asp71Asn Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Asp71Glu Single submitter ⚠
  • p.Asp80Glu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 3 ⚠
  • p.Asp80Gly Single submitter Paget disease of bone 3
  • p.Asp92Asn Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Cys105Gly Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Cys113Tyr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Cys131Tyr Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Cys145Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Cys154_Glu155insProAspTyrAspLeuCysSerValCys Single submitter Paget disease of bone 2, early-onset
  • p.Cys154Phe Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Cys26Arg Single submitter Inborn genetic diseases ⚠
  • p.Cys331Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Gln285Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Gln354fs Single submitter Paget disease of bone 2, early-onset
  • p.Gln354His Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Gln354Lys Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Gln357Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Gln357Glu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Gln357His Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Gln371Lys Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Gln400His Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Gln400Lys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Gln432Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Gln432Ter Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Glu104del Single submitter Paget disease of bone 2, early-onset
  • p.Glu116Gly Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Glu155Lys Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Glu177Ala Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Glu19Asp Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Glu301Asp Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Glu301Gln Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Glu30Lys Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Glu323= Single submitter Paget disease of bone 2, early-onset
  • p.Glu324Lys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Glu327Lys Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Glu34_Ala39del Single submitter
  • p.Glu352Gln Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Glu352Val Single submitter Inborn genetic diseases ⚠
  • p.Glu81Gln Single submitter ⚠
  • p.Glu81Lys Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Gly12= Single submitter Paget disease of bone 2, early-onset
  • p.Gly12Arg Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Gly130Val Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Gly133Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly133Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Gly158Asp Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Gly173Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Gly194Ala Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Gly194Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Gly194Glu Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Gly197Glu Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Gly262Glu Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Gly263Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Gly297Arg Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Gly298Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Gly302Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Gly334Glu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Gly363Arg Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Gly411Arg Single submitter ⚠
  • p.Gly61Ser Single submitter Paget disease of bone 3 ⚠
  • p.Gly72Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.His123Tyr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.His160Asn Single submitter ⚠
  • p.His174Tyr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.His192Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.His385Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.His436Tyr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 3 ⚠
  • p.His66Gln Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Ile127Met Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Ile253Thr Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Ile257Met Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • p.Ile257Thr Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Ile314Met Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Ile395Thr Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Ile424Asn Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Ile424Val Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Ile94Val Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Ile97Thr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Leu10Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu166Val Single submitter ⚠
  • p.Leu251Pro Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Leu268Pro Single submitter
  • p.Leu341Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Leu353Pro Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Leu386Ile Single submitter
  • p.Leu386Phe Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Leu386Val Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Leu394Arg Single submitter Inborn genetic diseases ⚠
  • p.Leu394Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Leu398= Single submitter
  • p.Leu398Arg Single submitter ⚠
  • p.Leu413Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Leu416His Single submitter Inborn genetic diseases ⚠
  • p.Leu417Pro Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Leu428Val Single submitter ⚠
  • p.Leu440fs Single submitter Paget disease of bone 2, early-onset
  • p.Lys13Glu Single submitter Paget disease of bone 2, early-onset ⚠
  • p.Lys141Gln Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Lys157Glu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ⚠
  • p.Lys187Asn Single submitter Paget disease of bone 2, early-onset ⚠