FUS — 628 ClinVar variants

All ClinVar germline FUS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 178 flagged for review →

29 Pathogenic · 5 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 35 Conflicting · 47 Benign · 30 Benign/Likely benign · 181 Likely benign · 285 Uncertain significance

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

⚑ Evidence disagreements 178

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.

FUS p.Met254Val Likely pathogenic Single submitter
FUS p.Pro508Ala Likely pathogenic Single submitter
FUS-related disorder
FUS p.Gly206Ser Pathogenic No assertion criteria
amyotrophic lateral sclerosis type 6

Predictors agree, ClinVar conflicts 11

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

FUS p.Arg216Cys Conflicting Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Arg274His Conflicting Single submitter
FUS p.Arg485Trp Conflicting Single submitter
Inborn genetic diseases
FUS p.Asn196Ser Conflicting Single submitter
Inborn genetic diseases
FUS p.Asn63Ser Conflicting Single submitter
Inborn genetic diseases
FUS p.Gly226Ser Conflicting Single submitter
Inborn genetic diseases
FUS p.Gly80Ser Conflicting Single submitter
Inborn genetic diseases
FUS p.Pro152Leu Conflicting Single submitter
Inborn genetic diseases
FUS p.Pro391Ala Conflicting Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Pro431Leu Conflicting Single submitter
Inborn genetic diseases
FUS p.Ser148Thr Conflicting Single submitter
Inborn genetic diseases

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

FUS p.Tyr526_Ter527insTer Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 81

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

FUS p.Arg269Trp Uncertain significance Multiple submitters
Inborn genetic diseases
FUS p.Arg472Cys Uncertain significance Multiple submitters
Inborn genetic diseases
FUS p.Arg514Thr Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 6
FUS p.Asn263Ser Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 6
FUS p.Gln179His Uncertain significance Multiple submitters
tremor, hereditary essential, 4
FUS p.Gln210His Uncertain significance Multiple submitters
FUS-related disorder
FUS p.Gly217Arg Uncertain significance Multiple submitters
FUS-related disorder
FUS p.Gly225Ser Uncertain significance Multiple submitters
tremor, hereditary essential, 4
FUS p.Gly465Glu Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 6
FUS p.Gly507Asp Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 6
FUS p.Gly515Ser Uncertain significance Multiple submitters
Inborn genetic diseases
FUS p.His275Tyr Uncertain significance Multiple submitters
tremor, hereditary essential, 4
FUS p.Pro152Ser Uncertain significance Multiple submitters
Inborn genetic diseases
FUS p.Pro18Ser Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 6
FUS p.Ser61Gly Uncertain significance Multiple submitters
tremor, hereditary essential, 4
FUS p.Ser89Thr Uncertain significance Multiple submitters
FUS-related disorder
FUS p.Arg213Cys Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Arg213His Uncertain significance Single submitter
FUS-related disorder
FUS p.Arg234Cys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Arg394Leu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Arg485Gln Uncertain significance Single submitter
tremor, hereditary essential, 4
FUS p.Arg491Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Arg495Gln Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Arg522Ser Uncertain significance Single submitter
tremor, hereditary essential, 4
FUS p.Arg524Trp Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Asn162Ser Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Asn295Ser Uncertain significance Single submitter
tremor, hereditary essential, 4
FUS p.Asn314Asp Uncertain significance Single submitter
FUS p.Asn381Ser Uncertain significance Single submitter
FUS p.Asn467Ser Uncertain significance Single submitter
FUS p.Asp212Glu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Asp303Asn Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Asp327Asn Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Asp352Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Gln141Pro Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Gln210Pro Uncertain significance Single submitter
FUS p.Gln519Glu Uncertain significance Single submitter
tremor, hereditary essential, 4
FUS p.Gly114Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Gly178Ser Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Gly187Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Gly191Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Gly207Ser Uncertain significance Single submitter
FUS p.Gly227Ser Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Gly237Ser Uncertain significance Single submitter
FUS p.Gly255Cys Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Gly34Glu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Gly390Val Uncertain significance Single submitter
tremor, hereditary essential, 4
FUS p.Gly403Asp Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Gly404Ser Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Gly409Glu Uncertain significance Single submitter
FUS p.Gly414Ser Uncertain significance Single submitter
FUS p.Gly457Arg Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Gly474Arg Uncertain significance Single submitter
FUS p.Gly483Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Gly486Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Gly492Arg Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Gly505Cys Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Gly515Cys Uncertain significance Single submitter
FUS p.His275Arg Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.His463Arg Uncertain significance Single submitter
FUS p.Leu324Phe Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Lys357Arg Uncertain significance Single submitter
FUS p.Met184Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Pro106Thr Uncertain significance Single submitter
tremor, hereditary essential, 4
FUS p.Pro268Ala Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Pro363Ala Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Pro429Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Pro525Ala Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Pro72Leu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Pro72Thr Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Ser121Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Ser131Asn Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Ser135Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Ser165Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Ser412Gly Uncertain significance Single submitter
tremor, hereditary essential, 4
FUS p.Ser462Phe Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Ser61Asn Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Thr11Ala Uncertain significance Single submitter
FUS p.Thr19Ser Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Thr71Ala Uncertain significance Single submitter
tremor, hereditary essential, 4
FUS p.Tyr526Asn Uncertain significance Single submitter

Predictors split 82

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

FUS p.Arg216His Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 6
FUS p.Arg514Gly Pathogenic Multiple submitters
amyotrophic lateral sclerosis type 6
FUS p.Arg521His Pathogenic Multiple submitters
amyotrophic lateral sclerosis type 6
FUS p.Gln199Glu Uncertain significance Multiple submitters
Inborn genetic diseases
FUS p.Gly404Val Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 6
FUS p.Lys510Glu Pathogenic/Likely pathogenic Multiple submitters
amyotrophic lateral sclerosis type 6
FUS p.Pro459Leu Uncertain significance Multiple submitters
tremor, hereditary essential, 4
FUS p.Tyr239Cys Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 6
FUS p.Tyr397Cys Uncertain significance Multiple submitters
Inborn genetic diseases
FUS p.Ala423Val Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Arg218Lys Uncertain significance Single submitter
FUS p.Arg234His Uncertain significance Single submitter
tremor, hereditary essential, 4
FUS p.Arg244His Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Arg248His Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Arg274Cys Uncertain significance Single submitter
FUS p.Arg371Cys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Arg371His Uncertain significance Single submitter
FUS p.Arg377Gln Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Arg377Leu Uncertain significance Single submitter
FUS p.Arg383Cys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Arg383His Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Arg386Pro Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Arg473Cys Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Arg498Gly Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Arg514Ser Pathogenic Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Arg518Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Arg518Lys Pathogenic Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Arg521Ser Pathogenic Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Arg524Ser Pathogenic Single submitter
FUS p.Asn159Lys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Asn162His Conflicting Single submitter
Inborn genetic diseases
FUS p.Asp280Asn Uncertain significance Single submitter
FUS p.Asp343Glu Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Asp512His Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Asp5Gly Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Gln519Arg Likely pathogenic Single submitter
FUS p.Glu434Lys Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Gly171Cys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Gly189Asp Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Gly217Ser Likely benign Single submitter
Inborn genetic diseases
FUS p.Gly219Val Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Gly230Cys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Gly230Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Gly231Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Gly245Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Gly246Cys Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Gly253Val Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Gly414Val Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Gly466Ser Conflicting Single submitter
Inborn genetic diseases
FUS p.Gly474Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Gly488Ser Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Gly500Ser Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Gly509Asp Likely pathogenic Single submitter
FUS p.Gly509Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Gly515Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.His517Arg Conflicting Single submitter
tremor, hereditary essential, 4
FUS p.His517Asn Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Ile310Val Likely benign Single submitter
amyotrophic lateral sclerosis
FUS p.Lys264Thr Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Met254Thr Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Phe265Val Uncertain significance Single submitter
FUS p.Pro106Leu Conflicting Single submitter
FUS-related disorder
FUS p.Pro151Leu Conflicting Single submitter
Inborn genetic diseases
FUS p.Pro268Arg Uncertain significance Single submitter
tremor, hereditary essential, 4
FUS p.Pro32Leu Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Pro345Ser Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Pro508Leu Uncertain significance Single submitter
FUS p.Ser119Cys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Ser163Arg Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Ser186Ile Conflicting Single submitter
Inborn genetic diseases
FUS p.Ser200Arg Uncertain significance Single submitter
FUS p.Ser360Phe Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Ser77Leu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Tyr143Cys Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Tyr14Cys Uncertain significance Single submitter
FUS-related disorder
FUS p.Tyr177Cys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Tyr208Cys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 6
FUS p.Tyr25Cys Uncertain significance Single submitter
FUS p.Tyr25Ser Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Tyr55Cys Uncertain significance Single submitter
Inborn genetic diseases
FUS p.Tyr75Cys Uncertain significance Single submitter
Inborn genetic diseases
FUS p.His517Gln Pathogenic No assertion criteria
Amyotrophic lateral sclerosis 6, autosomal recessive

All FUS variants

Pathogenic 29

p.Arg495Ter Multiple submitters FUS-related disorder
p.Arg514Gly Multiple submitters amyotrophic lateral sclerosis type 6 ⚠
p.Arg521Cys Multiple submitters tremor, hereditary essential, 4
p.Arg521Gly Multiple submitters tremor, hereditary essential, 4
p.Arg521His Multiple submitters amyotrophic lateral sclerosis type 6 ⚠
p.Gln519fs Multiple submitters amyotrophic lateral sclerosis type 6
p.Gly504fs Multiple submitters amyotrophic lateral sclerosis type 6
p.Pro525Leu Multiple submitters FUS-related disorder
c.1394-1G>T Single submitter amyotrophic lateral sclerosis type 6
c.1541+1G>A Single submitter amyotrophic lateral sclerosis type 6
p.Arg514Ser Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Arg518Lys Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Arg521Ser Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Arg524Ser Single submitter ⚠
p.Asp502fs Single submitter
p.Gln519Ter Single submitter amyotrophic lateral sclerosis type 6
p.Gln85Ter Single submitter amyotrophic lateral sclerosis type 6
p.Gly465fs Single submitter amyotrophic lateral sclerosis type 6
p.Gly499fs Single submitter amyotrophic lateral sclerosis type 6
p.Gly501fs Single submitter tremor, hereditary essential, 4
p.Met511fs Single submitter amyotrophic lateral sclerosis type 6
p.Phe506fs Single submitter
p.Pro525Thr Single submitter tremor, hereditary essential, 4
p.Ser340_Phe341insTer Single submitter
p.Tyr484fs Single submitter amyotrophic lateral sclerosis type 6
p.Tyr526Cys Single submitter juvenile amyotrophic lateral sclerosis
p.Gln290Ter No assertion criteria tremor, hereditary essential, 4
p.Gly206Ser No assertion criteria amyotrophic lateral sclerosis type 6 ⚠
p.His517Gln No assertion criteria Amyotrophic lateral sclerosis 6, autosomal recessive ⚠

Pathogenic/Likely pathogenic 5

c.1394-2del Multiple submitters tremor, hereditary essential, 4
p.Arg481Ter Multiple submitters tremor, hereditary essential, 4
p.Arg521Leu Multiple submitters amyotrophic lateral sclerosis type 6
p.Asp470fs Multiple submitters amyotrophic lateral sclerosis type 6
p.Lys510Glu Multiple submitters amyotrophic lateral sclerosis type 6 ⚠

Likely pathogenic 16

c.1542-1G>C Single submitter amyotrophic lateral sclerosis type 6
c.1542-5_1545del Single submitter
p.Arg495fs Single submitter nanophthalmos 4
p.Arg498fs Single submitter FUS-related disorder
p.Arg514Trp Single submitter amyotrophic lateral sclerosis type 6
p.Arg522Gly Single submitter amyotrophic lateral sclerosis type 6
p.Arg524Met Single submitter amyotrophic lateral sclerosis type 6
p.Gln519Arg Single submitter ⚠
p.Gln73Ter Single submitter
p.Gly500fs Single submitter amyotrophic lateral sclerosis type 6
p.Gly509Asp Single submitter ⚠
p.Gly509fs Single submitter amyotrophic lateral sclerosis type 6
p.Met254Val Single submitter ⚠
p.Pro508Ala Single submitter FUS-related disorder ⚠
p.Pro525Ser Single submitter amyotrophic lateral sclerosis type 6
p.Asp490fs No assertion criteria amyotrophic lateral sclerosis type 6

Conflicting classifications of pathogenicity 35

c.1067-10G>A Single submitter amyotrophic lateral sclerosis type 6
c.515_523+3del Single submitter Inborn genetic diseases
c.937-10C>T Single submitter amyotrophic lateral sclerosis type 6
c.*48G>A Single submitter FUS-related disorder
p.138GQQQSY[1] Single submitter Inborn genetic diseases
p.Arg216Cys Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Arg274His Single submitter ⚠
p.Arg485Trp Single submitter Inborn genetic diseases ⚠
p.Asn162His Single submitter Inborn genetic diseases ⚠
p.Asn196Ser Single submitter Inborn genetic diseases ⚠
p.Asn63Ser Single submitter Inborn genetic diseases ⚠
p.Gly226Ser Single submitter Inborn genetic diseases ⚠
p.Gly229_Gly231del Single submitter FUS-related disorder
p.Gly229_Gly231dup Single submitter Inborn genetic diseases
p.Gly466Ser Single submitter Inborn genetic diseases ⚠
p.Gly482= Single submitter tremor, hereditary essential, 4
p.Gly74= Single submitter Inborn genetic diseases
p.Gly80Ser Single submitter Inborn genetic diseases ⚠
p.His517Arg Single submitter tremor, hereditary essential, 4 ⚠
p.Met392Ile Single submitter Inborn genetic diseases
p.Pro106Leu Single submitter FUS-related disorder ⚠
p.Pro151Leu Single submitter Inborn genetic diseases ⚠
p.Pro152Leu Single submitter Inborn genetic diseases ⚠
p.Pro391Ala Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Pro431Leu Single submitter Inborn genetic diseases ⚠
p.Pro450Ser Single submitter amyotrophic lateral sclerosis type 6
p.Ser148Thr Single submitter Inborn genetic diseases ⚠
p.Ser186Ile Single submitter Inborn genetic diseases ⚠
p.Ser221del Single submitter amyotrophic lateral sclerosis type 6
p.Ser277= Single submitter amyotrophic lateral sclerosis type 6
p.Ser360= Single submitter tremor, hereditary essential, 4
p.Ser439= Single submitter Inborn genetic diseases
p.Ser57del Single submitter Inborn genetic diseases
p.Thr64= Single submitter Inborn genetic diseases
p.Tyr526_Ter527insTer Single submitter Inborn genetic diseases ⚠

Benign 47

c.1067-52G>A Multiple submitters
c.1541+125A>T Multiple submitters
c.190+197T>C Multiple submitters
c.190+9T>C Multiple submitters amyotrophic lateral sclerosis type 6
c.523+22C>T Multiple submitters
c.799+179G>C Multiple submitters
c.800-247G>T Multiple submitters
c.832+221G>T Multiple submitters
c.-54A>G Multiple submitters amyotrophic lateral sclerosis type 6
c.*214C>T Multiple submitters amyotrophic lateral sclerosis type 6
p.Gly49= Multiple submitters amyotrophic lateral sclerosis type 6
p.Gly51= Multiple submitters amyotrophic lateral sclerosis type 6
p.Tyr97= Multiple submitters amyotrophic lateral sclerosis type 6
c.1292+22dup Single submitter amyotrophic lateral sclerosis type 6
c.336-19_336-16del Single submitter amyotrophic lateral sclerosis type 6
c.523+42C>T Single submitter
c.523+48T>C Single submitter
c.523+59del Single submitter
c.523+59dup Single submitter
c.524-112_524-102del Single submitter
c.524-155T>C Single submitter
c.765-25C>T Single submitter
c.800-26dup Single submitter
c.833-17C>T Single submitter amyotrophic lateral sclerosis type 6
c.*10C>T Single submitter amyotrophic lateral sclerosis type 6
c.*1148A>T Single submitter amyotrophic lateral sclerosis type 6
c.*1420C>T Single submitter amyotrophic lateral sclerosis type 6
c.*1476T>C Single submitter amyotrophic lateral sclerosis type 6
c.*1803C>T Single submitter amyotrophic lateral sclerosis type 6
c.*1883T>C Single submitter amyotrophic lateral sclerosis type 6
c.*2393T>A Single submitter amyotrophic lateral sclerosis type 6
c.*2443A>G Single submitter amyotrophic lateral sclerosis type 6
c.*2486G>A Single submitter amyotrophic lateral sclerosis type 6
c.*2794G>C Single submitter amyotrophic lateral sclerosis type 6
c.*2884A>T Single submitter amyotrophic lateral sclerosis type 6
c.*2988C>T Single submitter amyotrophic lateral sclerosis type 6
c.*3230A>G Single submitter amyotrophic lateral sclerosis type 6
c.*3231T>C Single submitter amyotrophic lateral sclerosis type 6
c.*491T>G Single submitter amyotrophic lateral sclerosis type 6
c.*626G>A Single submitter amyotrophic lateral sclerosis type 6
c.*687G>A Single submitter amyotrophic lateral sclerosis type 6
c.*770G>C Single submitter amyotrophic lateral sclerosis type 6
c.*910C>T Single submitter amyotrophic lateral sclerosis type 6
c.*989C>T Single submitter amyotrophic lateral sclerosis type 6
p.Gly231_Tyr232insGly Single submitter Inborn genetic diseases
p.Gly79= Single submitter amyotrophic lateral sclerosis type 6
c.1542-6_1542-5dup No assertion criteria FUS-related disorder

Benign/Likely benign 30

c.1169-11A>G Multiple submitters amyotrophic lateral sclerosis type 6
c.1541+9_1541+10del Multiple submitters amyotrophic lateral sclerosis type 6
c.336-19_336-18insG Multiple submitters amyotrophic lateral sclerosis type 6
c.518_523del Multiple submitters amyotrophic lateral sclerosis type 6
c.521_523+3dupGAGGTG Multiple submitters amyotrophic lateral sclerosis type 6
c.524-13dup Multiple submitters amyotrophic lateral sclerosis type 6
c.524-21T>C Multiple submitters
c.524-5C>T Multiple submitters amyotrophic lateral sclerosis type 6
c.764+12A>C Multiple submitters amyotrophic lateral sclerosis type 6
c.800-275C>G Multiple submitters
c.833-29C>T Multiple submitters
c.-39A>G Multiple submitters amyotrophic lateral sclerosis type 6
c.-47G>A Multiple submitters amyotrophic lateral sclerosis type 6
c.*41G>A Multiple submitters tremor, hereditary essential, 4
p.Arg234= Multiple submitters amyotrophic lateral sclerosis type 6
p.Arg386= Multiple submitters amyotrophic lateral sclerosis type 6
p.Arg522= Multiple submitters Inborn genetic diseases
p.Asp212= Multiple submitters Inborn genetic diseases
p.Gly22= Multiple submitters Inborn genetic diseases
p.Gly225= Multiple submitters Inborn genetic diseases
p.Gly228= Multiple submitters Inborn genetic diseases
p.Gly231dup Multiple submitters amyotrophic lateral sclerosis type 6
p.Gly416= Multiple submitters Inborn genetic diseases
p.Gly488= Multiple submitters amyotrophic lateral sclerosis type 6
p.Ser135Asn Multiple submitters tremor, hereditary essential, 4
p.Ser44= Multiple submitters amyotrophic lateral sclerosis type 6
p.Ser48= Multiple submitters Inborn genetic diseases
p.Tyr66= Multiple submitters Inborn genetic diseases
p.Tyr91= Multiple submitters Inborn genetic diseases
c.1542-6_1542-5del No assertion criteria

Likely benign 181

c.1067-6C>T Multiple submitters Inborn genetic diseases
c.14-9C>G Multiple submitters tremor, hereditary essential, 4
c.1542-97G>T Multiple submitters
c.190+241G>A Multiple submitters
c.190+251C>T Multiple submitters
c.190+261A>C Multiple submitters
c.39-6A>G Multiple submitters
c.799+13A>T Multiple submitters tremor, hereditary essential, 4
c.*132C>A Multiple submitters Inborn genetic diseases
c.*1998T>C Multiple submitters amyotrophic lateral sclerosis type 6
p.Ala16Val Multiple submitters Inborn genetic diseases
p.Ala2= Multiple submitters
p.Ala302= Multiple submitters amyotrophic lateral sclerosis type 6
p.Arg216= Multiple submitters amyotrophic lateral sclerosis type 6
p.Arg487= Multiple submitters amyotrophic lateral sclerosis type 6
p.Gly192= Multiple submitters Inborn genetic diseases
p.Gly224= Multiple submitters Inborn genetic diseases
p.Gly226= Multiple submitters amyotrophic lateral sclerosis type 6
p.Gly227= Multiple submitters amyotrophic lateral sclerosis type 6
p.Gly229= Multiple submitters Inborn genetic diseases
p.Gly231del Multiple submitters amyotrophic lateral sclerosis type 6
p.Gly253= Multiple submitters tremor, hereditary essential, 4
p.Gly40Ala Multiple submitters Inborn genetic diseases
p.Gly465= Multiple submitters amyotrophic lateral sclerosis type 6
p.Pro106= Multiple submitters tremor, hereditary essential, 4
p.Pro125= Multiple submitters amyotrophic lateral sclerosis type 6
p.Pro459= Multiple submitters Inborn genetic diseases
p.Ser30= Multiple submitters Inborn genetic diseases
p.Ser89= Multiple submitters tremor, hereditary essential, 4
p.Thr432= Multiple submitters amyotrophic lateral sclerosis type 6
p.Tyr100= Multiple submitters Inborn genetic diseases
p.Tyr113= Multiple submitters Inborn genetic diseases
p.Tyr239= Multiple submitters amyotrophic lateral sclerosis type 6
p.Tyr484= Multiple submitters Inborn genetic diseases
c.1066+14G>A Single submitter amyotrophic lateral sclerosis type 6
c.1066+15G>T Single submitter amyotrophic lateral sclerosis type 6
c.1067-13T>G Single submitter amyotrophic lateral sclerosis type 6
c.1067-15T>A Single submitter tremor, hereditary essential, 4
c.1067-16T>C Single submitter amyotrophic lateral sclerosis type 6
c.1067-17del Single submitter amyotrophic lateral sclerosis type 6
c.1067-7del Single submitter
c.1168+11A>G Single submitter amyotrophic lateral sclerosis type 6
c.1168+16C>T Single submitter amyotrophic lateral sclerosis type 6
c.1168+3GAG[3] Single submitter amyotrophic lateral sclerosis type 6
c.1169-7G>A Single submitter amyotrophic lateral sclerosis type 6
c.1292+12T>G Single submitter amyotrophic lateral sclerosis type 6
c.1292+17T>A Single submitter amyotrophic lateral sclerosis type 6
c.1292+17T>C Single submitter amyotrophic lateral sclerosis type 6
c.1292+20T>A Single submitter amyotrophic lateral sclerosis type 6
c.1293-13C>T Single submitter tremor, hereditary essential, 4
c.1293-17T>C Single submitter amyotrophic lateral sclerosis type 6
c.1393+17T>C Single submitter tremor, hereditary essential, 4
c.1393+20T>G Single submitter amyotrophic lateral sclerosis type 6
c.1393+34G>T Single submitter
c.1394-12C>T Single submitter amyotrophic lateral sclerosis type 6
c.1394-13del Single submitter amyotrophic lateral sclerosis type 6
c.1394-14T>C Single submitter amyotrophic lateral sclerosis type 6
c.1394-16G>T Single submitter
c.1394-19C>A Single submitter tremor, hereditary essential, 4
c.1394-4C>G Single submitter Inborn genetic diseases
c.14-4G>A Single submitter amyotrophic lateral sclerosis type 6
c.1541+12A>C Single submitter amyotrophic lateral sclerosis type 6
c.1541+15C>G Single submitter tremor, hereditary essential, 4
c.1542-17_1542-16insG Single submitter amyotrophic lateral sclerosis type 6
c.1542-4G>T Single submitter Inborn genetic diseases
c.1542-5del Single submitter
c.1542-5dup Single submitter
c.190+16C>T Single submitter amyotrophic lateral sclerosis type 6
c.190+173C>G Single submitter
c.190+216C>T Single submitter
c.191-10A>G Single submitter tremor, hereditary essential, 4
c.191-23C>G Single submitter
c.191-41T>C Single submitter
c.191-8C>T Single submitter amyotrophic lateral sclerosis type 6
c.335+12T>G Single submitter amyotrophic lateral sclerosis type 6
c.335+19C>T Single submitter amyotrophic lateral sclerosis type 6
c.335+20G>A Single submitter amyotrophic lateral sclerosis type 6
c.335+8G>C Single submitter amyotrophic lateral sclerosis type 6
c.336-19T>G Single submitter amyotrophic lateral sclerosis type 6
c.336-20T>G Single submitter amyotrophic lateral sclerosis type 6
c.336-4C>G Single submitter amyotrophic lateral sclerosis type 6
c.336-6C>A Single submitter amyotrophic lateral sclerosis type 6
c.38+15T>C Single submitter amyotrophic lateral sclerosis type 6
c.38+19C>T Single submitter amyotrophic lateral sclerosis type 6
c.38+9T>A Single submitter amyotrophic lateral sclerosis type 6
c.39-11C>G Single submitter amyotrophic lateral sclerosis type 6
c.523+112A>G Single submitter
c.523+172C>T Single submitter
c.523+21_523+24del Single submitter amyotrophic lateral sclerosis type 6
c.523+248C>G Single submitter
c.524-12_524-9del Single submitter amyotrophic lateral sclerosis type 6
c.524-12C>A Single submitter amyotrophic lateral sclerosis type 6
c.524-13del Single submitter amyotrophic lateral sclerosis type 6
c.524-15T>A Single submitter amyotrophic lateral sclerosis type 6
c.524-20C>T Single submitter amyotrophic lateral sclerosis type 6
c.764+17C>T Single submitter amyotrophic lateral sclerosis type 6
c.764+9C>G Single submitter amyotrophic lateral sclerosis type 6
c.799+10C>A Single submitter
c.799+12G>A Single submitter amyotrophic lateral sclerosis type 6
c.799+13_799+14del Single submitter amyotrophic lateral sclerosis type 6
c.800-14C>T Single submitter amyotrophic lateral sclerosis type 6
c.800-15T>C Single submitter amyotrophic lateral sclerosis type 6
c.832+13G>A Single submitter amyotrophic lateral sclerosis type 6
c.832+46C>G Single submitter
c.833-10C>G Single submitter amyotrophic lateral sclerosis type 6
c.833-242G>T Single submitter
c.833-284A>T Single submitter
c.833-43A>G Single submitter
c.936+12G>A Single submitter tremor, hereditary essential, 4
c.936+16A>G Single submitter amyotrophic lateral sclerosis type 6
c.936+21dup Single submitter tremor, hereditary essential, 4
c.936+7G>A Single submitter amyotrophic lateral sclerosis type 6
c.937-6C>T Single submitter amyotrophic lateral sclerosis type 6
c.-44G>A Single submitter
c.*1089G>A Single submitter amyotrophic lateral sclerosis type 6
c.*1286C>G Single submitter amyotrophic lateral sclerosis type 6
c.*1375C>T Single submitter amyotrophic lateral sclerosis type 6
c.*1992A>C Single submitter amyotrophic lateral sclerosis type 6
c.*2005G>T Single submitter amyotrophic lateral sclerosis type 6
c.*2348G>A Single submitter amyotrophic lateral sclerosis type 6
c.*2955A>G Single submitter amyotrophic lateral sclerosis type 6
c.*335G>T Single submitter amyotrophic lateral sclerosis type 6
c.*561C>T Single submitter amyotrophic lateral sclerosis type 6
c.*814T>C Single submitter amyotrophic lateral sclerosis type 6
p.Arg242= Single submitter amyotrophic lateral sclerosis type 6
p.Arg248= Single submitter amyotrophic lateral sclerosis type 6
p.Arg495= Single submitter Inborn genetic diseases
p.Asn362= Single submitter amyotrophic lateral sclerosis type 6
p.Asp270= Single submitter amyotrophic lateral sclerosis type 6
p.Asp276= Single submitter
p.Asp283= Single submitter tremor, hereditary essential, 4
p.Asp343= Single submitter amyotrophic lateral sclerosis type 6
p.Asp490= Single submitter
p.Asp502= Single submitter amyotrophic lateral sclerosis type 6
p.Gln157= Single submitter amyotrophic lateral sclerosis type 6
p.Gln181= Single submitter amyotrophic lateral sclerosis type 6
p.Gln88= Single submitter Inborn genetic diseases
p.Gly138= Single submitter amyotrophic lateral sclerosis type 6
p.Gly144= Single submitter tremor, hereditary essential, 4
p.Gly154= Single submitter Inborn genetic diseases
p.Gly193= Single submitter amyotrophic lateral sclerosis type 6
p.Gly217Ser Single submitter Inborn genetic diseases ⚠
p.Gly220= Single submitter Inborn genetic diseases
p.Gly223= Single submitter amyotrophic lateral sclerosis type 6
p.Gly24= Single submitter amyotrophic lateral sclerosis type 6
p.Gly249= Single submitter Inborn genetic diseases
p.Gly379= Single submitter amyotrophic lateral sclerosis type 6
p.Gly454= Single submitter
p.Gly475= Single submitter amyotrophic lateral sclerosis type 6
p.Ile310Val Single submitter amyotrophic lateral sclerosis ⚠
p.Phe375= Single submitter tremor, hereditary essential, 4
p.Phe438= Single submitter amyotrophic lateral sclerosis type 6
p.Pro151= Single submitter amyotrophic lateral sclerosis type 6
p.Pro18Thr Single submitter amyotrophic lateral sclerosis type 6
p.Pro32= Single submitter amyotrophic lateral sclerosis type 6
p.Pro450= Single submitter Inborn genetic diseases
p.Pro525= Single submitter
p.Pro72= Single submitter amyotrophic lateral sclerosis type 6
p.Ser115= Single submitter
p.Ser205= Single submitter
p.Ser235= Single submitter amyotrophic lateral sclerosis type 6
p.Ser54Asn Single submitter Inborn genetic diseases
p.Ser77= Single submitter amyotrophic lateral sclerosis type 6
p.Ser95= Single submitter amyotrophic lateral sclerosis type 6
p.Thr317= Single submitter tremor, hereditary essential, 4
p.Thr338= Single submitter amyotrophic lateral sclerosis type 6
p.Thr45= Single submitter amyotrophic lateral sclerosis type 6
p.Thr78= Single submitter amyotrophic lateral sclerosis type 6
p.Tyr136= Single submitter Inborn genetic diseases
p.Tyr143= Single submitter Inborn genetic diseases
p.Tyr232= Single submitter Inborn genetic diseases
p.Tyr33= Single submitter amyotrophic lateral sclerosis type 6
p.Tyr468= Single submitter amyotrophic lateral sclerosis type 6
p.Tyr58= Single submitter amyotrophic lateral sclerosis type 6
c.1394-16_1394-10del No assertion criteria FUS-related disorder
c.1394-6T>C No assertion criteria FUS-related disorder
c.800-7A>G No assertion criteria FUS-related disorder
c.-5C>G No assertion criteria FUS-related disorder
c.*139T>G No assertion criteria FUS-related disorder
p.Arg481= No assertion criteria FUS-related disorder
p.Gly172= No assertion criteria FUS-related disorder

Uncertain significance 285

c.1168+6G>C Multiple submitters amyotrophic lateral sclerosis type 6
c.833-6A>G Multiple submitters Inborn genetic diseases
p.Arg216His Multiple submitters amyotrophic lateral sclerosis type 6 ⚠
p.Arg269Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg472Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg498Gln Multiple submitters Inborn genetic diseases
p.Arg514Thr Multiple submitters amyotrophic lateral sclerosis type 6 ⚠
p.Asn263Ser Multiple submitters amyotrophic lateral sclerosis type 6 ⚠
p.Gln179His Multiple submitters tremor, hereditary essential, 4 ⚠
p.Gln199Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln210His Multiple submitters FUS-related disorder ⚠
p.Gly217Arg Multiple submitters FUS-related disorder ⚠
p.Gly225Ser Multiple submitters tremor, hereditary essential, 4 ⚠
p.Gly228_Gly231del Multiple submitters tremor, hereditary essential, 4
p.Gly247_Arg248insGly Multiple submitters amyotrophic lateral sclerosis type 6
p.Gly404Val Multiple submitters amyotrophic lateral sclerosis type 6 ⚠
p.Gly458_Pro459insGly Multiple submitters amyotrophic lateral sclerosis type 6
p.Gly465Glu Multiple submitters amyotrophic lateral sclerosis type 6 ⚠
p.Gly507Asp Multiple submitters amyotrophic lateral sclerosis type 6 ⚠
p.Gly515Ser Multiple submitters Inborn genetic diseases ⚠
p.His275Tyr Multiple submitters tremor, hereditary essential, 4 ⚠
p.Pro152Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro18Ser Multiple submitters amyotrophic lateral sclerosis type 6 ⚠
p.Pro459Leu Multiple submitters tremor, hereditary essential, 4 ⚠
p.Ser165del Multiple submitters amyotrophic lateral sclerosis type 6
p.Ser402del Multiple submitters amyotrophic lateral sclerosis type 6
p.Ser61Gly Multiple submitters tremor, hereditary essential, 4 ⚠
p.Ser89Thr Multiple submitters FUS-related disorder ⚠
p.Tyr239Cys Multiple submitters amyotrophic lateral sclerosis type 6 ⚠
p.Tyr397Cys Multiple submitters Inborn genetic diseases ⚠
c.1066+4T>C Single submitter tremor, hereditary essential, 4
c.1168+3G>A Single submitter amyotrophic lateral sclerosis type 6
c.1168+6dup Single submitter Inborn genetic diseases
c.13+11_13+13del Single submitter amyotrophic lateral sclerosis type 6
c.13+4G>A Single submitter amyotrophic lateral sclerosis type 6
c.13+6T>A Single submitter amyotrophic lateral sclerosis type 6
c.13+6T>C Single submitter amyotrophic lateral sclerosis type 6
c.1541+2dup Single submitter
c.1542-1G>T Single submitter amyotrophic lateral sclerosis type 6
c.191-1G>A Single submitter Inborn genetic diseases
c.335+6G>C Single submitter amyotrophic lateral sclerosis type 6
c.336-3T>C Single submitter Inborn genetic diseases
c.336-5C>A Single submitter FUS-related disorder
c.39-12C>T Single submitter amyotrophic lateral sclerosis type 6
c.39-18G>A Single submitter amyotrophic lateral sclerosis type 6
c.520_525del Single submitter amyotrophic lateral sclerosis
c.523+6A>G Single submitter tremor, hereditary essential, 4
c.524-7C>T Single submitter amyotrophic lateral sclerosis type 6
c.764+1del Single submitter Inborn genetic diseases
c.765-4C>T Single submitter Inborn genetic diseases
c.800-5T>C Single submitter
c.833-9A>T Single submitter amyotrophic lateral sclerosis type 6
c.936+9G>A Single submitter
c.-118G>A Single submitter amyotrophic lateral sclerosis type 6
c.-15C>G Single submitter amyotrophic lateral sclerosis type 6
c.-48C>G Single submitter amyotrophic lateral sclerosis type 6
c.-49G>A Single submitter amyotrophic lateral sclerosis type 6
c.-49G>T Single submitter amyotrophic lateral sclerosis type 6
c.-51C>T Single submitter amyotrophic lateral sclerosis type 6
c.-53C>T Single submitter amyotrophic lateral sclerosis type 6
c.-6G>C Single submitter
c.*1014G>A Single submitter amyotrophic lateral sclerosis type 6
c.*1034C>T Single submitter amyotrophic lateral sclerosis type 6
c.*103dup Single submitter FUS-related disorder
c.*1067G>C Single submitter amyotrophic lateral sclerosis type 6
c.*1081T>G Single submitter amyotrophic lateral sclerosis type 6
c.*108C>T Single submitter amyotrophic lateral sclerosis type 6
c.*1183C>T Single submitter amyotrophic lateral sclerosis type 6
c.*1225C>T Single submitter amyotrophic lateral sclerosis type 6
c.*1230C>G Single submitter amyotrophic lateral sclerosis type 6
c.*1273C>T Single submitter amyotrophic lateral sclerosis type 6
c.*1302T>G Single submitter amyotrophic lateral sclerosis type 6
c.*1409C>T Single submitter amyotrophic lateral sclerosis type 6
c.*1451A>G Single submitter amyotrophic lateral sclerosis type 6
c.*1580A>G Single submitter amyotrophic lateral sclerosis type 6
c.*1581T>C Single submitter amyotrophic lateral sclerosis type 6
c.*1587G>A Single submitter amyotrophic lateral sclerosis type 6
c.*1593C>T Single submitter amyotrophic lateral sclerosis type 6
c.*1601C>T Single submitter amyotrophic lateral sclerosis type 6
c.*1610C>T Single submitter amyotrophic lateral sclerosis type 6
c.*1614T>G Single submitter amyotrophic lateral sclerosis type 6
c.*1650C>T Single submitter amyotrophic lateral sclerosis type 6
c.*1734C>T Single submitter amyotrophic lateral sclerosis type 6
c.*1750C>T Single submitter amyotrophic lateral sclerosis type 6
c.*175C>T Single submitter amyotrophic lateral sclerosis type 6
c.*1810C>A Single submitter amyotrophic lateral sclerosis type 6
c.*181C>T Single submitter FUS-related disorder
c.*1834A>G Single submitter amyotrophic lateral sclerosis type 6
c.*1843G>A Single submitter amyotrophic lateral sclerosis type 6
c.*1851G>A Single submitter amyotrophic lateral sclerosis type 6
c.*186T>C Single submitter
c.*1908C>T Single submitter amyotrophic lateral sclerosis type 6
c.*1916A>G Single submitter amyotrophic lateral sclerosis type 6
c.*1942G>A Single submitter amyotrophic lateral sclerosis type 6
c.*196C>T Single submitter amyotrophic lateral sclerosis type 6
c.*2063C>G Single submitter amyotrophic lateral sclerosis type 6
c.*2114T>C Single submitter amyotrophic lateral sclerosis type 6
c.*2145G>T Single submitter amyotrophic lateral sclerosis type 6
c.*2259G>C Single submitter amyotrophic lateral sclerosis type 6
c.*2288C>T Single submitter amyotrophic lateral sclerosis type 6
c.*2299A>C Single submitter amyotrophic lateral sclerosis type 6
c.*2314C>G Single submitter amyotrophic lateral sclerosis type 6
c.*2329G>C Single submitter amyotrophic lateral sclerosis type 6
c.*270A>G Single submitter amyotrophic lateral sclerosis type 6
c.*272T>C Single submitter amyotrophic lateral sclerosis type 6
c.*2815T>C Single submitter amyotrophic lateral sclerosis type 6
c.*282G>A Single submitter amyotrophic lateral sclerosis type 6
c.*2851T>C Single submitter amyotrophic lateral sclerosis type 6
c.*2967C>G Single submitter amyotrophic lateral sclerosis type 6
c.*3092C>T Single submitter amyotrophic lateral sclerosis type 6
c.*3174T>G Single submitter amyotrophic lateral sclerosis type 6
c.*3185A>G Single submitter amyotrophic lateral sclerosis type 6
c.*3226G>A Single submitter amyotrophic lateral sclerosis type 6
c.*3263T>G Single submitter amyotrophic lateral sclerosis type 6
c.*356G>A Single submitter amyotrophic lateral sclerosis type 6
c.*408A>C Single submitter amyotrophic lateral sclerosis type 6
c.*415A>T Single submitter amyotrophic lateral sclerosis type 6
c.*457A>G Single submitter amyotrophic lateral sclerosis type 6
c.*4G>A Single submitter FUS-related disorder
c.*59G>A Single submitter
c.*65_*66del Single submitter
c.*721A>G Single submitter amyotrophic lateral sclerosis type 6
c.*805C>G Single submitter amyotrophic lateral sclerosis type 6
c.*852A>G Single submitter amyotrophic lateral sclerosis type 6
c.*926T>G Single submitter amyotrophic lateral sclerosis type 6
c.*953G>T Single submitter amyotrophic lateral sclerosis type 6
p.Ala337fs Single submitter
p.Ala423Val Single submitter Inborn genetic diseases ⚠
p.Arg213Cys Single submitter Inborn genetic diseases ⚠
p.Arg213His Single submitter FUS-related disorder ⚠
p.Arg216_Gly223del Single submitter amyotrophic lateral sclerosis type 6
p.Arg218_Gly226del Single submitter tremor, hereditary essential, 4
p.Arg218Lys Single submitter ⚠
p.Arg234Cys Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Arg234His Single submitter tremor, hereditary essential, 4 ⚠
p.Arg244His Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Arg248His Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Arg269Gln Single submitter amyotrophic lateral sclerosis type 6
p.Arg274Cys Single submitter ⚠
p.Arg371Cys Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Arg371His Single submitter ⚠
p.Arg377Gln Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Arg377Leu Single submitter ⚠
p.Arg383Cys Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Arg383His Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Arg386Pro Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Arg394Leu Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Arg473Cys Single submitter Inborn genetic diseases ⚠
p.Arg473His Single submitter Inborn genetic diseases
p.Arg485Gln Single submitter tremor, hereditary essential, 4 ⚠
p.Arg491Ser Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Arg495Gln Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Arg498Gly Single submitter Inborn genetic diseases ⚠
p.Arg518Gly Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Arg522Ser Single submitter tremor, hereditary essential, 4 ⚠
p.Arg524Trp Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Asn159Lys Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Asn162Ser Single submitter Inborn genetic diseases ⚠
p.Asn295Ser Single submitter tremor, hereditary essential, 4 ⚠
p.Asn314Asp Single submitter ⚠
p.Asn381Ser Single submitter ⚠
p.Asn467Ser Single submitter ⚠
p.Asp212Glu Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Asp280Asn Single submitter ⚠
p.Asp303Asn Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Asp327Asn Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Asp327fs Single submitter
p.Asp343Glu Single submitter Inborn genetic diseases ⚠
p.Asp352Val Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Asp512His Single submitter Inborn genetic diseases ⚠
p.Asp5Gly Single submitter Inborn genetic diseases ⚠
p.Gln118Arg Single submitter Inborn genetic diseases
p.Gln141Pro Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Gln158His Single submitter amyotrophic lateral sclerosis type 6
p.Gln210Pro Single submitter ⚠
p.Gln519Glu Single submitter tremor, hereditary essential, 4 ⚠
p.Glu434Lys Single submitter Inborn genetic diseases ⚠
p.Gly114Ser Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Gly167Asp Single submitter amyotrophic lateral sclerosis type 6
p.Gly171Cys Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Gly178Ser Single submitter Inborn genetic diseases ⚠
p.Gly187Ser Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Gly189Asp Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Gly191Ser Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Gly203Asp Single submitter
p.Gly207Ser Single submitter ⚠
p.Gly219Val Single submitter Inborn genetic diseases ⚠
p.Gly220_Ser221insArgGlyGly Single submitter amyotrophic lateral sclerosis type 6
p.Gly224_Gly231del Single submitter amyotrophic lateral sclerosis type 6
p.Gly227Ser Single submitter Inborn genetic diseases ⚠
p.Gly228_Gly229insSerGlyGlyGlyGlyGlyGlyGly Single submitter
p.Gly228_Gly231dup Single submitter tremor, hereditary essential, 4
p.Gly22Glu Single submitter amyotrophic lateral sclerosis type 6
p.Gly230_Gly231del Single submitter amyotrophic lateral sclerosis type 6
p.Gly230_Gly231dup Single submitter amyotrophic lateral sclerosis type 6
p.Gly230Cys Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Gly230Val Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Gly231Ser Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Gly237Ser Single submitter ⚠
p.Gly245Val Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Gly246Cys Single submitter Inborn genetic diseases ⚠
p.Gly250_Arg251insGlyArgGlyGly Single submitter amyotrophic lateral sclerosis type 6
p.Gly253Val Single submitter Inborn genetic diseases ⚠
p.Gly255Cys Single submitter Inborn genetic diseases ⚠
p.Gly34Glu Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Gly390Val Single submitter tremor, hereditary essential, 4 ⚠
p.Gly403Asp Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Gly404Ser Single submitter Inborn genetic diseases ⚠
p.Gly409Glu Single submitter ⚠
p.Gly414Ser Single submitter ⚠
p.Gly414Val Single submitter Inborn genetic diseases ⚠
p.Gly457Arg Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Gly474Arg Single submitter ⚠
p.Gly474Ser Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Gly483Ser Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Gly486Val Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Gly488Ser Single submitter Inborn genetic diseases ⚠
p.Gly492Arg Single submitter Inborn genetic diseases ⚠
p.Gly500Ser Single submitter Inborn genetic diseases ⚠
p.Gly505Cys Single submitter Inborn genetic diseases ⚠
p.Gly509= Single submitter
p.Gly509Val Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Gly515_Glu516insAsp Single submitter amyotrophic lateral sclerosis type 6
p.Gly515Cys Single submitter ⚠
p.Gly515Val Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Gly79Asp Single submitter Inborn genetic diseases
p.His275Arg Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.His463Arg Single submitter ⚠
p.His517Asn Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Leu324Phe Single submitter Inborn genetic diseases ⚠
p.Lys264Thr Single submitter Inborn genetic diseases ⚠
p.Lys357Arg Single submitter ⚠
p.Met184Val Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Met254Thr Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Phe265Val Single submitter ⚠
p.Pro106Thr Single submitter tremor, hereditary essential, 4 ⚠
p.Pro268Ala Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Pro268Arg Single submitter tremor, hereditary essential, 4 ⚠
p.Pro32Leu Single submitter Inborn genetic diseases ⚠
p.Pro345Ser Single submitter Inborn genetic diseases ⚠
p.Pro363Ala Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Pro429Ser Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Pro508Leu Single submitter ⚠
p.Pro525Ala Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Pro72Leu Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Pro72Thr Single submitter Inborn genetic diseases ⚠
p.Pro98Leu Single submitter Inborn genetic diseases
p.Pro98Thr Single submitter amyotrophic lateral sclerosis type 6
p.Ser119Cys Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Ser121Gly Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Ser13= Single submitter amyotrophic lateral sclerosis type 6
p.Ser131Asn Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Ser135Gly Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Ser163Arg Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Ser165_Gly166del Single submitter
p.Ser165Gly Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Ser200Arg Single submitter ⚠
p.Ser205_Gly207del Single submitter Inborn genetic diseases
p.Ser360Phe Single submitter Inborn genetic diseases ⚠
p.Ser412Gly Single submitter tremor, hereditary essential, 4 ⚠
p.Ser439fs Single submitter
p.Ser462Phe Single submitter Inborn genetic diseases ⚠
p.Ser513= Single submitter
p.Ser61Asn Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Ser77Leu Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Thr11Ala Single submitter ⚠
p.Thr19Ser Single submitter Inborn genetic diseases ⚠
p.Thr71Ala Single submitter tremor, hereditary essential, 4 ⚠
p.Tyr143Cys Single submitter Inborn genetic diseases ⚠
p.Tyr14Asn Single submitter amyotrophic lateral sclerosis type 6
p.Tyr14Cys Single submitter FUS-related disorder ⚠
p.Tyr177Cys Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Tyr208Cys Single submitter amyotrophic lateral sclerosis type 6 ⚠
p.Tyr25Cys Single submitter ⚠
p.Tyr25Ser Single submitter Inborn genetic diseases ⚠
p.Tyr479Cys Single submitter amyotrophic lateral sclerosis type 6
p.Tyr484_Arg485insHisAspArgGlyGlyTyr Single submitter amyotrophic lateral sclerosis type 6
p.Tyr484Cys Single submitter amyotrophic lateral sclerosis type 6
p.Tyr526Asn Single submitter ⚠
p.Tyr55Cys Single submitter Inborn genetic diseases ⚠
p.Tyr75Cys Single submitter Inborn genetic diseases ⚠
c.*109G>A No assertion criteria FUS-related disorder
c.*137G>A No assertion criteria FUS-related disorder
c.*176C>T No assertion criteria FUS-related disorder
c.*2201dup No assertion criteria distal hereditary motor neuropathy