MATR3 — 592 ClinVar variants

All ClinVar germline MATR3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 241 flagged for review →

1 Pathogenic · 14 Conflicting · 48 Benign · 9 Benign/Likely benign · 211 Likely benign · 309 Uncertain significance

Full MATR3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 241

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

Predictors agree, ClinVar conflicts 7

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

MATR3 p.Ala378Thr Conflicting Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ala751Thr Conflicting Single submitter
MATR3-related disorder
MATR3 p.Asn835Ser Conflicting Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Gln627Glu Conflicting Single submitter
Inborn genetic diseases
MATR3 p.Ser705Ile Conflicting Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Tyr773Cys Conflicting Single submitter
Inborn genetic diseases
MATR3 p.Tyr773Ser 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.

MATR3 c.2371+2_2371+3insATAGACTATG…[25 bp] Conflicting Single submitter
amyotrophic lateral sclerosis type 21

Predictors lean, ClinVar uncertain 170

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 170

MATR3 p.Ala745Val Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 21
MATR3 p.Arg102His Uncertain significance Multiple submitters
Inborn genetic diseases
MATR3 p.Arg167Trp Uncertain significance Multiple submitters
neurodegenerative disease
MATR3 p.Arg19His Uncertain significance Multiple submitters
Inborn genetic diseases
MATR3 p.Asn110Thr Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 21
MATR3 p.Asn380Ser Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 21
MATR3 p.Asn755Ser Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 21
MATR3 p.Asn761Ser Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 21
MATR3 p.Asp131Glu Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 21
MATR3 p.Asp757Asn Uncertain significance Multiple submitters
Inborn genetic diseases
MATR3 p.Asp767Glu Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 21
MATR3 p.Asp772Asn Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 21
MATR3 p.Gln320His Uncertain significance Multiple submitters
Inborn genetic diseases
MATR3 p.Glu721Lys Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 21
MATR3 p.Gly624Val Uncertain significance Multiple submitters
Inborn genetic diseases
MATR3 p.Gly691Glu Uncertain significance Multiple submitters
Inborn genetic diseases
MATR3 p.Ile425Val Uncertain significance Multiple submitters
Inborn genetic diseases
MATR3 p.Ile498Val Uncertain significance Multiple submitters
Inborn genetic diseases
MATR3 p.Ile792Val Uncertain significance Multiple submitters
Inborn genetic diseases
MATR3 p.Ile86Val Uncertain significance Multiple submitters
Inborn genetic diseases
MATR3 p.Leu652Phe Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 21
MATR3 p.Lys712Arg Uncertain significance Multiple submitters
Inborn genetic diseases
MATR3 p.Lys719Glu Uncertain significance Multiple submitters
Inborn genetic diseases
MATR3 p.Met389Val Uncertain significance Multiple submitters
Inborn genetic diseases
MATR3 p.Met546Val Uncertain significance Multiple submitters
Inborn genetic diseases
MATR3 p.Pro776Leu Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 21
MATR3 p.Ser533Asn Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 21
MATR3 p.Ser748Pro Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 21
MATR3 p.Thr456Ala Uncertain significance Multiple submitters
Inborn genetic diseases
MATR3 p.Thr758Lys Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 21
MATR3 p.Tyr779Cys Uncertain significance Multiple submitters
Inborn genetic diseases
MATR3 p.Ala119Pro Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ala23Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ala272Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ala272Thr Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ala449Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ala512Thr Uncertain significance Single submitter
Inborn genetic diseases
MATR3 p.Ala69Ser Uncertain significance Single submitter
Inborn genetic diseases
MATR3 p.Ala708Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ala709Thr Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ala710Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ala729Thr Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ala730Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ala745Pro Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ala762Gly Uncertain significance Single submitter
Inborn genetic diseases
MATR3 p.Ala76Gly Uncertain significance Single submitter
Inborn genetic diseases
MATR3 p.Ala76Ser Uncertain significance Single submitter
MATR3 p.Arg147Lys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Arg160Lys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Arg192His Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Arg207His Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Arg252Lys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Arg255His Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Arg841Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Arg841His Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Asn333Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Asn380His Uncertain significance Single submitter
Inborn genetic diseases
MATR3 p.Asn727Lys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Asn727Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Asn737Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Asn740Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Asp222Asn Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Asp232Asn Uncertain significance Single submitter
MATR3 p.Asp233Asn Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Asp452Glu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Asp489Asn Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Asp600Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Asp638His Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Asp642Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Asp724His Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Asp724Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Asp753Glu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Asp757Gly Uncertain significance Single submitter
Inborn genetic diseases
MATR3 p.Asp763Val Uncertain significance Single submitter
Inborn genetic diseases
MATR3 p.Asp767Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Cys230Phe Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Cys293Tyr Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Gln100Glu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Gln15Arg Uncertain significance Single submitter
Inborn genetic diseases
MATR3 p.Gln209Arg Uncertain significance Single submitter
amyotrophic lateral sclerosis
MATR3 p.Gln261Arg Uncertain significance Single submitter
Inborn genetic diseases
MATR3 p.Gln346Glu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Gln492His Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Gln643Lys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Gln66Lys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Gln725Lys Uncertain significance Single submitter
Inborn genetic diseases
MATR3 p.Gln843Glu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Gln843Lys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Glu251Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Glu262Asp Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Glu626Asp Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Glu628Ala Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Glu726Lys Uncertain significance Single submitter
Inborn genetic diseases
MATR3 p.Glu738Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Glu746Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Glu760Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Gly377Arg Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Gly632Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Gly685Asp Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Gly744Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Gly93Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.His241Arg Uncertain significance Single submitter
MATR3 p.His337Leu Uncertain significance Single submitter
Inborn genetic diseases
MATR3 p.His364Tyr Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.His81Arg Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ile26Val Uncertain significance Single submitter
Inborn genetic diseases
MATR3 p.Ile278Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ile295Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ile735Leu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ile735Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ile775Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Leu265Ile Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Leu284His Uncertain significance Single submitter
Inborn genetic diseases
MATR3 p.Leu365Pro Uncertain significance Single submitter
Inborn genetic diseases
MATR3 p.Leu415Pro Uncertain significance Single submitter
Inborn genetic diseases
MATR3 p.Leu553Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Leu723Phe Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Lys487Arg Uncertain significance Single submitter
Inborn genetic diseases
MATR3 p.Lys692Arg Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Lys712Glu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Lys719Arg Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Lys736Thr Uncertain significance Single submitter
MATR3 p.Lys770Asn Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Lys845Glu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Met339Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Met38Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Met539Ile Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Met546Ile Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Met650Leu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Pro154Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Pro194Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Pro257Ala Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Pro259Leu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Pro286Leu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Pro605Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Pro743Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Pro776Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Pro825Ala Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ser109Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ser14Pro Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ser164Phe Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ser188Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ser206Gly Uncertain significance Single submitter
MATR3 p.Ser240Leu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ser276Asn Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ser307Asn Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ser316Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ser62Thr Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ser705Cys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ser71Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21

Predictors split 63

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

MATR3 p.Arg127Cys Uncertain significance Multiple submitters
Inborn genetic diseases
MATR3 p.Arg317Leu Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 21
MATR3 p.Arg412Lys Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 21
MATR3 p.Arg496Cys Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 21
MATR3 p.Arg496His Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 21
MATR3 p.Arg496Ser Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 21
MATR3 p.Arg841Cys Benign/Likely benign Multiple submitters
amyotrophic lateral sclerosis type 21
MATR3 p.Arg842Thr Uncertain significance Multiple submitters
Inborn genetic diseases
MATR3 p.Tyr250Cys Uncertain significance Multiple submitters
Inborn genetic diseases
MATR3 p.Ala512Gly Uncertain significance Single submitter
Inborn genetic diseases
MATR3 p.Ala535Val Uncertain significance Single submitter
MATR3 p.Ala665Glu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Arg102Cys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Arg120Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Arg149Lys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Arg216Lys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Arg216Thr Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Arg229Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Arg51Cys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Arg51His Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Asn435Ser Uncertain significance Single submitter
Inborn genetic diseases
MATR3 p.Asp201Gly Uncertain significance Single submitter
Inborn genetic diseases
MATR3 p.Asp221Tyr Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Asp452Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Cys319Ser Uncertain significance Single submitter
MATR3 p.Cys552Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Gln34Arg Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Gln390His Uncertain significance Single submitter
Inborn genetic diseases
MATR3 p.Gln448His Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Gln472Leu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Gln828Arg Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Gly205Glu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Leu29Phe Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Leu415Ile Uncertain significance Single submitter
Inborn genetic diseases
MATR3 p.Leu416Ile Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Leu500Phe Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Leu731Trp Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Lys245Ile Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Lys475Thr Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Lys524Asn Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Lys836Thr Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Met217Thr Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Met548Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Phe115Cys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Phe266Leu Uncertain significance Single submitter
Inborn genetic diseases
MATR3 p.Phe462Cys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Phe488Leu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Phe559Leu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Phe809Leu Uncertain significance Single submitter
MATR3 p.Pro327Ala Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Pro465Ser Uncertain significance Single submitter
Inborn genetic diseases
MATR3 p.Pro783Arg Uncertain significance Single submitter
MATR3-related disorder
MATR3 p.Pro783Gln Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Pro786Arg Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ser511Cys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ser689Tyr Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ser747Tyr Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Ser80Cys Uncertain significance Single submitter
Inborn genetic diseases
MATR3 p.Trp178Arg Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Tyr214His Uncertain significance Single submitter
Inborn genetic diseases
MATR3 p.Val788Ala Uncertain significance Single submitter
amyotrophic lateral sclerosis type 21
MATR3 p.Glu436Lys Uncertain significance No assertion criteria
MATR3 p.Pro135Ser Uncertain significance No assertion criteria
MATR3-related disorder

All MATR3 variants

Pathogenic 1

p.Ser85Cys Multiple submitters amyotrophic lateral sclerosis type 21

Conflicting classifications of pathogenicity 14

c.1603-7_1603-4del Single submitter amyotrophic lateral sclerosis type 21
c.1734+11T>G Single submitter amyotrophic lateral sclerosis type 21
c.1778+3A>G Single submitter amyotrophic lateral sclerosis type 21
c.2371+2_2371+3insATAGACTATGTGATACCTAAAACAG Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ala378Thr Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ala751Thr Single submitter MATR3-related disorder ⚠
p.Arg225= Single submitter amyotrophic lateral sclerosis type 21
p.Asn835Ser Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Asp677= Single submitter amyotrophic lateral sclerosis type 21
p.Gln627Glu Single submitter Inborn genetic diseases ⚠
p.Ser63= Single submitter amyotrophic lateral sclerosis type 21
p.Ser705Ile Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Tyr773Cys Single submitter Inborn genetic diseases ⚠
p.Tyr773Ser Single submitter Inborn genetic diseases ⚠

Benign 48

c.2494-14C>A Multiple submitters amyotrophic lateral sclerosis type 21
c.-43T>A Multiple submitters amyotrophic lateral sclerosis type 21
c.*177A>G Multiple submitters amyotrophic lateral sclerosis type 21
c.*275C>T Multiple submitters amyotrophic lateral sclerosis type 21
p.Ala449= Multiple submitters amyotrophic lateral sclerosis type 21
p.Asn761= Multiple submitters amyotrophic lateral sclerosis type 21
p.Leu731= Multiple submitters amyotrophic lateral sclerosis type 21
c.1130-5T>A Single submitter amyotrophic lateral sclerosis type 21
c.1182+110G>A Single submitter
c.1183-191G>A Single submitter
c.1309-257C>T Single submitter
c.1309-276G>A Single submitter
c.1435-20G>A Single submitter amyotrophic lateral sclerosis type 21
c.1603-109_1603-103del Single submitter
c.1603-17T>C Single submitter amyotrophic lateral sclerosis type 21
c.1734+32A>C Single submitter
c.2493+154dup Single submitter
c.2494-12_2494-11del Single submitter amyotrophic lateral sclerosis type 21
c.974+36G>A Single submitter
c.-103dup Single submitter
c.-178+469T>G Single submitter
c.-247C>T Single submitter amyotrophic lateral sclerosis type 21
c.-610C>G Single submitter amyotrophic lateral sclerosis type 21
c.-643A>G Single submitter amyotrophic lateral sclerosis type 21
c.*1076T>C Single submitter amyotrophic lateral sclerosis type 21
c.*1087G>C Single submitter amyotrophic lateral sclerosis type 21
c.*1259G>C Single submitter amyotrophic lateral sclerosis type 21
c.*1278T>C Single submitter amyotrophic lateral sclerosis type 21
c.*1288T>G Single submitter amyotrophic lateral sclerosis type 21
c.*1394G>A Single submitter amyotrophic lateral sclerosis type 21
c.*1425C>G Single submitter amyotrophic lateral sclerosis type 21
c.*1482A>T Single submitter amyotrophic lateral sclerosis type 21
c.*1535A>G Single submitter amyotrophic lateral sclerosis type 21
c.*1767C>T Single submitter amyotrophic lateral sclerosis type 21
c.*2054T>A Single submitter amyotrophic lateral sclerosis type 21
c.*2174C>T Single submitter amyotrophic lateral sclerosis type 21
c.*2194T>A Single submitter amyotrophic lateral sclerosis type 21
c.*2200C>T Single submitter amyotrophic lateral sclerosis type 21
c.*305A>C Single submitter amyotrophic lateral sclerosis type 21
c.*313A>G Single submitter amyotrophic lateral sclerosis type 21
c.*406A>G Single submitter amyotrophic lateral sclerosis type 21
c.*496C>T Single submitter amyotrophic lateral sclerosis type 21
c.*640A>G Single submitter amyotrophic lateral sclerosis type 21
c.*672G>A Single submitter amyotrophic lateral sclerosis type 21
c.*708T>C Single submitter amyotrophic lateral sclerosis type 21
c.*747G>C Single submitter amyotrophic lateral sclerosis type 21
c.*769G>A Single submitter amyotrophic lateral sclerosis type 21
c.*97C>G Single submitter amyotrophic lateral sclerosis type 21

Benign/Likely benign 9

c.1130-4A>G Multiple submitters amyotrophic lateral sclerosis type 21
c.1183-5G>A Multiple submitters amyotrophic lateral sclerosis type 21
c.1602+6A>G Multiple submitters amyotrophic lateral sclerosis type 21
p.Ala23= Multiple submitters amyotrophic lateral sclerosis type 21
p.Ala762Thr Multiple submitters amyotrophic lateral sclerosis type 21
p.Arg841Cys Multiple submitters amyotrophic lateral sclerosis type 21 ⚠
p.Asn787Ser Multiple submitters amyotrophic lateral sclerosis type 21
p.Asp757= Multiple submitters amyotrophic lateral sclerosis type 21
p.Leu97= Multiple submitters amyotrophic lateral sclerosis type 21

Likely benign 211

c.1129+19T>C Multiple submitters amyotrophic lateral sclerosis type 21
c.1129+20G>A Multiple submitters amyotrophic lateral sclerosis type 21
c.2494-6T>A Multiple submitters amyotrophic lateral sclerosis type 21
c.912+11_912+15del Multiple submitters amyotrophic lateral sclerosis type 21
c.975-12G>A Multiple submitters amyotrophic lateral sclerosis type 21
c.-56G>A Multiple submitters amyotrophic lateral sclerosis type 21
p.Asn649= Multiple submitters amyotrophic lateral sclerosis type 21
p.Asn818= Multiple submitters amyotrophic lateral sclerosis type 21
p.Glu846= Multiple submitters amyotrophic lateral sclerosis type 21
p.Gly27= Multiple submitters amyotrophic lateral sclerosis type 21
p.His337Arg Multiple submitters amyotrophic lateral sclerosis type 21
p.His428= Multiple submitters amyotrophic lateral sclerosis type 21
p.Ile498= Multiple submitters amyotrophic lateral sclerosis type 21
p.Phe5= Multiple submitters amyotrophic lateral sclerosis type 21
p.Ter848= Multiple submitters amyotrophic lateral sclerosis type 21
p.Tyr219= Multiple submitters amyotrophic lateral sclerosis type 21
p.Val815= Multiple submitters amyotrophic lateral sclerosis type 21
c.1016+13T>C Single submitter amyotrophic lateral sclerosis type 21
c.1016+9A>T Single submitter amyotrophic lateral sclerosis type 21
c.1017-16G>A Single submitter amyotrophic lateral sclerosis type 21
c.1017-20T>G Single submitter amyotrophic lateral sclerosis type 21
c.1017-4C>T Single submitter amyotrophic lateral sclerosis type 21
c.1017-4dup Single submitter amyotrophic lateral sclerosis type 21
c.1129+18A>G Single submitter amyotrophic lateral sclerosis type 21
c.1129+7A>G Single submitter amyotrophic lateral sclerosis type 21
c.1129+8T>C Single submitter
c.1129+97G>A Single submitter
c.1129+9A>G Single submitter amyotrophic lateral sclerosis type 21
c.1129+9A>T Single submitter amyotrophic lateral sclerosis type 21
c.1130-14C>G Single submitter amyotrophic lateral sclerosis type 21
c.1130-18C>A Single submitter amyotrophic lateral sclerosis type 21
c.1130-6A>G Single submitter amyotrophic lateral sclerosis type 21
c.1130-7C>G Single submitter amyotrophic lateral sclerosis type 21
c.1130-9C>T Single submitter amyotrophic lateral sclerosis type 21
c.1182+11A>G Single submitter amyotrophic lateral sclerosis type 21
c.1182+17T>G Single submitter amyotrophic lateral sclerosis type 21
c.1183-15T>C Single submitter amyotrophic lateral sclerosis type 21
c.1183-4A>G Single submitter amyotrophic lateral sclerosis type 21
c.1183-4A>T Single submitter amyotrophic lateral sclerosis type 21
c.1183-5del Single submitter amyotrophic lateral sclerosis type 21
c.1183-7T>C Single submitter amyotrophic lateral sclerosis type 21
c.1308+15A>G Single submitter amyotrophic lateral sclerosis type 21
c.1308+18G>A Single submitter amyotrophic lateral sclerosis type 21
c.1308+24_1308+26del Single submitter amyotrophic lateral sclerosis type 21
c.1308+25T>C Single submitter
c.1309-10A>G Single submitter amyotrophic lateral sclerosis type 21
c.1434+10del Single submitter amyotrophic lateral sclerosis type 21
c.1434+17T>C Single submitter amyotrophic lateral sclerosis type 21
c.1435-10T>C Single submitter amyotrophic lateral sclerosis type 21
c.1435-11A>G Single submitter amyotrophic lateral sclerosis type 21
c.1435-14_1435-11del Single submitter amyotrophic lateral sclerosis type 21
c.1435-17G>A Single submitter amyotrophic lateral sclerosis type 21
c.1435-7A>G Single submitter
c.1435-8T>C Single submitter amyotrophic lateral sclerosis type 21
c.1602+10A>G Single submitter amyotrophic lateral sclerosis type 21
c.1602+10A>T Single submitter amyotrophic lateral sclerosis type 21
c.1602+192C>G Single submitter
c.1602+9C>T Single submitter amyotrophic lateral sclerosis type 21
c.1603-11T>C Single submitter amyotrophic lateral sclerosis type 21
c.1603-11T>G Single submitter amyotrophic lateral sclerosis type 21
c.1603-13_1603-12del Single submitter amyotrophic lateral sclerosis type 21
c.1603-17T>G Single submitter amyotrophic lateral sclerosis type 21
c.1603-18C>G Single submitter amyotrophic lateral sclerosis type 21
c.1603-18C>T Single submitter amyotrophic lateral sclerosis type 21
c.1603-19T>C Single submitter amyotrophic lateral sclerosis type 21
c.1603-7T>C Single submitter amyotrophic lateral sclerosis type 21
c.1603-9_1603-6del Single submitter amyotrophic lateral sclerosis type 21
c.1603-9_1603-8del Single submitter amyotrophic lateral sclerosis type 21
c.1603-9C>A Single submitter amyotrophic lateral sclerosis type 21
c.1734+10A>G Single submitter amyotrophic lateral sclerosis type 21
c.1734+19G>A Single submitter amyotrophic lateral sclerosis type 21
c.1734+7A>G Single submitter amyotrophic lateral sclerosis type 21
c.1735-19C>G Single submitter amyotrophic lateral sclerosis type 21
c.1778+15T>C Single submitter amyotrophic lateral sclerosis type 21
c.1778+17T>C Single submitter amyotrophic lateral sclerosis type 21
c.1778+7del Single submitter amyotrophic lateral sclerosis type 21
c.1779-19T>G Single submitter amyotrophic lateral sclerosis type 21
c.1779-20G>C Single submitter amyotrophic lateral sclerosis type 21
c.1779-20G>T Single submitter amyotrophic lateral sclerosis type 21
c.2148+14C>G Single submitter amyotrophic lateral sclerosis type 21
c.2149-237dup Single submitter
c.2149-8A>G Single submitter amyotrophic lateral sclerosis type 21
c.2371+10A>G Single submitter amyotrophic lateral sclerosis type 21
c.2371+11A>T Single submitter
c.2371+13T>G Single submitter amyotrophic lateral sclerosis type 21
c.2372-16A>G Single submitter amyotrophic lateral sclerosis type 21
c.2372-19T>A Single submitter amyotrophic lateral sclerosis type 21
c.2372-4C>T Single submitter amyotrophic lateral sclerosis type 21
c.2493+12T>A Single submitter amyotrophic lateral sclerosis type 21
c.2493+154del Single submitter
c.2493+19C>T Single submitter amyotrophic lateral sclerosis type 21
c.2494-8_2494-5del Single submitter amyotrophic lateral sclerosis type 21
c.2494-9T>C Single submitter amyotrophic lateral sclerosis type 21
c.913-4G>A Single submitter amyotrophic lateral sclerosis type 21
c.974+20T>C Single submitter amyotrophic lateral sclerosis type 21
c.974+7G>A Single submitter amyotrophic lateral sclerosis type 21
c.975-15C>T Single submitter amyotrophic lateral sclerosis type 21
c.975-20A>C Single submitter amyotrophic lateral sclerosis type 21
c.-177-190_-177-188del Single submitter
c.-177-90dup Single submitter
c.-178+210C>T Single submitter
c.-42T>A Single submitter
p.Ala24= Single submitter amyotrophic lateral sclerosis type 21
p.Ala30= Single submitter amyotrophic lateral sclerosis type 21
p.Ala31= Single submitter amyotrophic lateral sclerosis type 21
p.Ala459= Single submitter amyotrophic lateral sclerosis type 21
p.Ala556= Single submitter amyotrophic lateral sclerosis type 21
p.Ala709= Single submitter amyotrophic lateral sclerosis type 21
p.Ala729= Single submitter amyotrophic lateral sclerosis type 21
p.Ala730= Single submitter amyotrophic lateral sclerosis type 21
p.Ala745= Single submitter amyotrophic lateral sclerosis type 21
p.Ala816= Single submitter amyotrophic lateral sclerosis type 21
p.Arg102= Single submitter amyotrophic lateral sclerosis type 21
p.Arg147= Single submitter amyotrophic lateral sclerosis type 21
p.Arg467= Single submitter amyotrophic lateral sclerosis type 21
p.Arg51= Single submitter amyotrophic lateral sclerosis type 21
p.Asn727= Single submitter amyotrophic lateral sclerosis type 21
p.Asn733= Single submitter amyotrophic lateral sclerosis type 21
p.Asn740= Single submitter amyotrophic lateral sclerosis type 21
p.Asn750= Single submitter
p.Asn755= Single submitter amyotrophic lateral sclerosis type 21
p.Asp106= Single submitter amyotrophic lateral sclerosis type 21
p.Asp177= Single submitter amyotrophic lateral sclerosis type 21
p.Asp221= Single submitter amyotrophic lateral sclerosis type 21
p.Asp332= Single submitter
p.Asp767= Single submitter amyotrophic lateral sclerosis type 21
p.Asp771= Single submitter amyotrophic lateral sclerosis type 21
p.Asp777= Single submitter amyotrophic lateral sclerosis type 21
p.Cys296= Single submitter amyotrophic lateral sclerosis type 21
p.Cys563= Single submitter amyotrophic lateral sclerosis type 21
p.Gln140= Single submitter amyotrophic lateral sclerosis type 21
p.Gln308= Single submitter amyotrophic lateral sclerosis type 21
p.Gln34= Single submitter amyotrophic lateral sclerosis type 21
p.Gln486= Single submitter amyotrophic lateral sclerosis type 21
p.Gln6= Single submitter amyotrophic lateral sclerosis type 21
p.Gln643= Single submitter amyotrophic lateral sclerosis type 21
p.Glu168= Single submitter amyotrophic lateral sclerosis type 21
p.Glu249= Single submitter amyotrophic lateral sclerosis type 21
p.Glu493= Single submitter amyotrophic lateral sclerosis type 21
p.Glu543= Single submitter amyotrophic lateral sclerosis type 21
p.Glu633= Single submitter amyotrophic lateral sclerosis type 21
p.Glu636= Single submitter amyotrophic lateral sclerosis type 21
p.Glu746= Single submitter amyotrophic lateral sclerosis type 21
p.Gly153= Single submitter amyotrophic lateral sclerosis type 21
p.Gly271= Single submitter amyotrophic lateral sclerosis type 21
p.Gly43= Single submitter amyotrophic lateral sclerosis type 21
p.Gly48= Single submitter amyotrophic lateral sclerosis type 21
p.Gly495= Single submitter amyotrophic lateral sclerosis type 21
p.Gly507= Single submitter amyotrophic lateral sclerosis type 21
p.Gly521= Single submitter amyotrophic lateral sclerosis type 21
p.Gly744= Single submitter amyotrophic lateral sclerosis type 21
p.His244= Single submitter amyotrophic lateral sclerosis type 21
p.His820= Single submitter amyotrophic lateral sclerosis type 21
p.Ile141= Single submitter amyotrophic lateral sclerosis type 21
p.Ile720= Single submitter amyotrophic lateral sclerosis type 21
p.Ile89= Single submitter amyotrophic lateral sclerosis type 21
p.Ile89Val Single submitter amyotrophic lateral sclerosis type 21
p.Leu112= Single submitter amyotrophic lateral sclerosis type 21
p.Leu143= Single submitter amyotrophic lateral sclerosis type 21
p.Leu21= Single submitter amyotrophic lateral sclerosis type 21
p.Leu224= Single submitter amyotrophic lateral sclerosis type 21
p.Leu260= Single submitter amyotrophic lateral sclerosis type 21
p.Leu265= Single submitter amyotrophic lateral sclerosis type 21
p.Leu322= Single submitter amyotrophic lateral sclerosis type 21
p.Leu411= Single submitter amyotrophic lateral sclerosis type 21
p.Leu415= Single submitter amyotrophic lateral sclerosis type 21
p.Leu418= Single submitter amyotrophic lateral sclerosis type 21
p.Leu429= Single submitter amyotrophic lateral sclerosis type 21
p.Leu55= Single submitter amyotrophic lateral sclerosis type 21
p.Leu575= Single submitter
p.Leu64= Single submitter amyotrophic lateral sclerosis type 21
p.Leu808= Single submitter amyotrophic lateral sclerosis type 21
p.Lys532= Single submitter amyotrophic lateral sclerosis type 21
p.Lys640= Single submitter amyotrophic lateral sclerosis type 21
p.Phe189= Single submitter amyotrophic lateral sclerosis type 21
p.Phe281= Single submitter amyotrophic lateral sclerosis type 21
p.Pro154= Single submitter amyotrophic lateral sclerosis type 21
p.Pro169= Single submitter amyotrophic lateral sclerosis type 21
p.Pro290= Single submitter amyotrophic lateral sclerosis type 21
p.Pro299= Single submitter amyotrophic lateral sclerosis type 21
p.Pro372= Single submitter amyotrophic lateral sclerosis type 21
p.Pro421= Single submitter amyotrophic lateral sclerosis type 21
p.Pro504= Single submitter amyotrophic lateral sclerosis type 21
p.Ser471= Single submitter amyotrophic lateral sclerosis type 21
p.Ser604= Single submitter amyotrophic lateral sclerosis type 21
p.Ser747= Single submitter
p.Thr444= Single submitter amyotrophic lateral sclerosis type 21
p.Thr456= Single submitter amyotrophic lateral sclerosis type 21
p.Thr622= Single submitter amyotrophic lateral sclerosis type 21
p.Thr741= Single submitter amyotrophic lateral sclerosis type 21
p.Tyr128= Single submitter amyotrophic lateral sclerosis type 21
p.Tyr158= Single submitter amyotrophic lateral sclerosis type 21
p.Tyr572= Single submitter amyotrophic lateral sclerosis type 21
p.Tyr810= Single submitter
p.Val199= Single submitter amyotrophic lateral sclerosis type 21
p.Val451= Single submitter amyotrophic lateral sclerosis type 21
p.Val461= Single submitter amyotrophic lateral sclerosis type 21
p.Val466= Single submitter amyotrophic lateral sclerosis type 21
p.Val468= Single submitter amyotrophic lateral sclerosis type 21
c.1602+3_1602+4insTTG No assertion criteria MATR3-related disorder
c.1602+5T>G No assertion criteria MATR3-related disorder
c.1602+7_1602+8insTG No assertion criteria MATR3-related disorder
c.1602+9C>G No assertion criteria MATR3-related disorder
c.2494-4A>T No assertion criteria MATR3-related disorder
c.-178+181A>G No assertion criteria MATR3-related disorder
c.-178+229_-178+230insAA No assertion criteria MATR3-related disorder
c.-178+229C>G No assertion criteria MATR3-related disorder
p.Arg229= No assertion criteria MATR3-related disorder
p.Lys473= No assertion criteria MATR3-related disorder
p.Phe809= No assertion criteria MATR3-related disorder
p.Pro786= No assertion criteria MATR3-related disorder

Uncertain significance 309

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

p.Ala108Ser Multiple submitters Inborn genetic diseases
p.Ala745Val Multiple submitters amyotrophic lateral sclerosis type 21 ⚠
p.Arg102His Multiple submitters Inborn genetic diseases ⚠
p.Arg127Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg167Trp Multiple submitters neurodegenerative disease ⚠
p.Arg19His Multiple submitters Inborn genetic diseases ⚠
p.Arg317Leu Multiple submitters amyotrophic lateral sclerosis type 21 ⚠
p.Arg393= Multiple submitters amyotrophic lateral sclerosis type 21
p.Arg412Lys Multiple submitters amyotrophic lateral sclerosis type 21 ⚠
p.Arg496Cys Multiple submitters amyotrophic lateral sclerosis type 21 ⚠
p.Arg496His Multiple submitters amyotrophic lateral sclerosis type 21 ⚠
p.Arg496Ser Multiple submitters amyotrophic lateral sclerosis type 21 ⚠
p.Arg842Thr Multiple submitters Inborn genetic diseases ⚠
p.Asn110Thr Multiple submitters amyotrophic lateral sclerosis type 21 ⚠
p.Asn380Ser Multiple submitters amyotrophic lateral sclerosis type 21 ⚠
p.Asn755Ser Multiple submitters amyotrophic lateral sclerosis type 21 ⚠
p.Asn761Ser Multiple submitters amyotrophic lateral sclerosis type 21 ⚠
p.Asp131Glu Multiple submitters amyotrophic lateral sclerosis type 21 ⚠
p.Asp187Glu Multiple submitters amyotrophic lateral sclerosis type 21
p.Asp753del Multiple submitters distal myopathy with vocal cord weakness
p.Asp757Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp767Glu Multiple submitters amyotrophic lateral sclerosis type 21 ⚠
p.Asp772Asn Multiple submitters amyotrophic lateral sclerosis type 21 ⚠
p.Gln320His Multiple submitters Inborn genetic diseases ⚠
p.Glu721Lys Multiple submitters amyotrophic lateral sclerosis type 21 ⚠
p.Gly624Val Multiple submitters Inborn genetic diseases ⚠
p.Gly691Glu Multiple submitters Inborn genetic diseases ⚠
p.Ile425Val Multiple submitters Inborn genetic diseases ⚠
p.Ile498Val Multiple submitters Inborn genetic diseases ⚠
p.Ile792Val Multiple submitters Inborn genetic diseases ⚠
p.Ile86Val Multiple submitters Inborn genetic diseases ⚠
p.Leu323del Multiple submitters amyotrophic lateral sclerosis type 21
p.Leu652Phe Multiple submitters amyotrophic lateral sclerosis type 21 ⚠
p.Lys712Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys719Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys845del Multiple submitters amyotrophic lateral sclerosis type 21
p.Met389Val Multiple submitters Inborn genetic diseases ⚠
p.Met546Val Multiple submitters Inborn genetic diseases ⚠
p.Pro776Leu Multiple submitters amyotrophic lateral sclerosis type 21 ⚠
p.Ser533Asn Multiple submitters amyotrophic lateral sclerosis type 21 ⚠
p.Ser748Pro Multiple submitters amyotrophic lateral sclerosis type 21 ⚠
p.Thr456Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr758Lys Multiple submitters amyotrophic lateral sclerosis type 21 ⚠
p.Tyr250Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr779Cys Multiple submitters Inborn genetic diseases ⚠
c.1129+6T>C Single submitter amyotrophic lateral sclerosis type 21
c.1130-15T>A Single submitter amyotrophic lateral sclerosis type 21
c.1130-15T>C Single submitter amyotrophic lateral sclerosis type 21
c.1130-8C>G Single submitter amyotrophic lateral sclerosis type 21
c.1182+4A>C Single submitter amyotrophic lateral sclerosis type 21
c.1602+5_1602+13del Single submitter amyotrophic lateral sclerosis type 21
c.1735-2_1735-1insAA Single submitter amyotrophic lateral sclerosis type 21
c.2148+3A>G Single submitter amyotrophic lateral sclerosis type 21
c.2149-5T>C Single submitter amyotrophic lateral sclerosis type 21
c.2372-3dup Single submitter amyotrophic lateral sclerosis type 21
c.2493+3A>G Single submitter amyotrophic lateral sclerosis type 21
c.2494-11T>C Single submitter
c.2494-14_2494-11del Single submitter amyotrophic lateral sclerosis type 21
c.2494-9_2494-8delinsAA Single submitter amyotrophic lateral sclerosis type 21
c.974+20T>G Single submitter amyotrophic lateral sclerosis type 21
c.975-9T>G Single submitter amyotrophic lateral sclerosis type 21
c.-124T>C Single submitter amyotrophic lateral sclerosis type 21
c.-139G>A Single submitter amyotrophic lateral sclerosis type 21
c.-16_-15del Single submitter
c.-178+224G>T Single submitter
c.-339+8C>A Single submitter
c.-563T>C Single submitter amyotrophic lateral sclerosis type 21
c.-5C>G Single submitter amyotrophic lateral sclerosis type 21
c.-649C>T Single submitter amyotrophic lateral sclerosis type 21
c.*1111T>C Single submitter amyotrophic lateral sclerosis type 21
c.*1143G>A Single submitter amyotrophic lateral sclerosis type 21
c.*1239A>G Single submitter amyotrophic lateral sclerosis type 21
c.*138T>C Single submitter amyotrophic lateral sclerosis type 21
c.*1633T>C Single submitter amyotrophic lateral sclerosis type 21
c.*1757T>C Single submitter amyotrophic lateral sclerosis type 21
c.*1821T>G Single submitter amyotrophic lateral sclerosis type 21
c.*1891T>G Single submitter amyotrophic lateral sclerosis type 21
c.*1999G>T Single submitter amyotrophic lateral sclerosis type 21
c.*2077A>C Single submitter amyotrophic lateral sclerosis type 21
c.*2098A>G Single submitter amyotrophic lateral sclerosis type 21
c.*2142G>A Single submitter amyotrophic lateral sclerosis type 21
c.*2170T>G Single submitter amyotrophic lateral sclerosis type 21
c.*2171C>T Single submitter amyotrophic lateral sclerosis type 21
c.*2222G>T Single submitter amyotrophic lateral sclerosis type 21
c.*2241A>G Single submitter amyotrophic lateral sclerosis type 21
c.*262A>G Single submitter amyotrophic lateral sclerosis type 21
c.*413A>T Single submitter amyotrophic lateral sclerosis type 21
c.*441C>G Single submitter amyotrophic lateral sclerosis type 21
c.*487C>T Single submitter amyotrophic lateral sclerosis type 21
c.*493T>C Single submitter amyotrophic lateral sclerosis type 21
c.*587A>G Single submitter amyotrophic lateral sclerosis type 21
c.*60A>G Single submitter amyotrophic lateral sclerosis type 21
c.*770A>G Single submitter amyotrophic lateral sclerosis type 21
c.*857C>T Single submitter amyotrophic lateral sclerosis type 21
c.*929G>A Single submitter amyotrophic lateral sclerosis type 21
p.Ala119Pro Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ala165del Single submitter amyotrophic lateral sclerosis type 21
p.Ala23Val Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ala272Gly Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ala272Thr Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ala32_Thr33insAla Single submitter amyotrophic lateral sclerosis type 21
p.Ala449Ser Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ala450Thr Single submitter amyotrophic lateral sclerosis type 21
p.Ala512Gly Single submitter Inborn genetic diseases ⚠
p.Ala512Thr Single submitter Inborn genetic diseases ⚠
p.Ala535Val Single submitter ⚠
p.Ala665Glu Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ala69Ser Single submitter Inborn genetic diseases ⚠
p.Ala708Val Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ala709Thr Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ala710Ser Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ala729Thr Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ala730Gly Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ala745Pro Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ala762Gly Single submitter Inborn genetic diseases ⚠
p.Ala76Gly Single submitter Inborn genetic diseases ⚠
p.Ala76Ser Single submitter ⚠
p.Arg102Cys Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Arg120Gly Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Arg147Lys Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Arg149Lys Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Arg160Lys Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Arg192His Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Arg207His Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Arg216Lys Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Arg216Thr Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Arg229Ser Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Arg252Lys Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Arg255His Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Arg318= Single submitter amyotrophic lateral sclerosis type 21
p.Arg51Cys Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Arg51His Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Arg841Gly Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Arg841His Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Asn333del Single submitter amyotrophic lateral sclerosis type 21
p.Asn333Ser Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Asn380His Single submitter Inborn genetic diseases ⚠
p.Asn435Ser Single submitter Inborn genetic diseases ⚠
p.Asn727Lys Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Asn727Ser Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Asn737Ser Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Asn740Ser Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Asp201Gly Single submitter Inborn genetic diseases ⚠
p.Asp221Tyr Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Asp222Asn Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Asp232Asn Single submitter ⚠
p.Asp233Asn Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Asp341Asn Single submitter amyotrophic lateral sclerosis type 21
p.Asp452Glu Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Asp452Gly Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Asp489Asn Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Asp600Gly Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Asp638His Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Asp642Gly Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Asp680His Single submitter amyotrophic lateral sclerosis type 21
p.Asp724His Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Asp724Val Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Asp753Glu Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Asp757Gly Single submitter Inborn genetic diseases ⚠
p.Asp763Val Single submitter Inborn genetic diseases ⚠
p.Asp767Val Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Asp793Asn Single submitter amyotrophic lateral sclerosis type 21
p.Cys230Phe Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Cys293Tyr Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Cys319Ser Single submitter ⚠
p.Cys552Ser Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Gln100Glu Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Gln15Arg Single submitter Inborn genetic diseases ⚠
p.Gln209Arg Single submitter amyotrophic lateral sclerosis ⚠
p.Gln261Arg Single submitter Inborn genetic diseases ⚠
p.Gln346Glu Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Gln34Arg Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Gln384= Single submitter amyotrophic lateral sclerosis type 21
p.Gln390His Single submitter Inborn genetic diseases ⚠
p.Gln448Arg Single submitter amyotrophic lateral sclerosis type 21
p.Gln448His Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Gln472Leu Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Gln492His Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Gln643Lys Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Gln66Lys Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Gln725Lys Single submitter Inborn genetic diseases ⚠
p.Gln828Arg Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Gln843Glu Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Gln843Lys Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Glu210del Single submitter amyotrophic lateral sclerosis type 21
p.Glu251Gly Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Glu262Asp Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Glu626Asp Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Glu628Ala Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Glu629del Single submitter amyotrophic lateral sclerosis type 21
p.Glu726Lys Single submitter Inborn genetic diseases ⚠
p.Glu738Gly Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Glu746Gly Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Glu760Gly Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Glu768del Single submitter amyotrophic lateral sclerosis type 21
p.Gly205Glu Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Gly237Cys Single submitter amyotrophic lateral sclerosis type 21
p.Gly237Val Single submitter amyotrophic lateral sclerosis type 21
p.Gly377Arg Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Gly632Ser Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Gly685Asp Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Gly744Val Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Gly93Ser Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.His241Arg Single submitter ⚠
p.His282fs Single submitter amyotrophic lateral sclerosis type 21
p.His337Leu Single submitter Inborn genetic diseases ⚠
p.His364Tyr Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.His81Arg Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ile26Val Single submitter Inborn genetic diseases ⚠
p.Ile278Val Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ile295Val Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ile735Leu Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ile735Val Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ile775Val Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Leu265Ile Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Leu284His Single submitter Inborn genetic diseases ⚠
p.Leu29Phe Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Leu365Pro Single submitter Inborn genetic diseases ⚠
p.Leu415Ile Single submitter Inborn genetic diseases ⚠
p.Leu415Pro Single submitter Inborn genetic diseases ⚠
p.Leu416Ile Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Leu500Phe Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Leu553Ser Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Leu723Phe Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Leu731Trp Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Lys245Ile Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Lys475Thr Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Lys487Arg Single submitter Inborn genetic diseases ⚠
p.Lys524Asn Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Lys617Met Single submitter amyotrophic lateral sclerosis type 21
p.Lys692Arg Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Lys712Glu Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Lys719Arg Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Lys736Thr Single submitter ⚠
p.Lys770Asn Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Lys832= Single submitter amyotrophic lateral sclerosis type 21
p.Lys836Thr Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Lys845Glu Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Met217Thr Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Met339Val Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Met38Val Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Met539Ile Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Met546Ile Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Met548Val Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Met650Leu Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Phe115Cys Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Phe266Leu Single submitter Inborn genetic diseases ⚠
p.Phe462Cys Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Phe488Leu Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Phe559Leu Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Phe809Leu Single submitter ⚠
p.Pro154Ser Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Pro194Ser Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Pro257Ala Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Pro259Leu Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Pro286Leu Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Pro327Ala Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Pro465Ser Single submitter Inborn genetic diseases ⚠
p.Pro519fs Single submitter amyotrophic lateral sclerosis type 21
p.Pro605Ser Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Pro743Ser Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Pro776Ser Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Pro783Arg Single submitter MATR3-related disorder ⚠
p.Pro783Gln Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Pro786Arg Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Pro825Ala Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ser109Gly Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ser14Pro Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ser164Phe Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ser188Gly Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ser206Gly Single submitter ⚠
p.Ser240Leu Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ser248Ile Single submitter amyotrophic lateral sclerosis type 21
p.Ser276Asn Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ser307Asn Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ser316Gly Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ser511Cys Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ser62Thr Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ser689Tyr Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ser705Cys Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ser71Gly Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ser747Tyr Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ser80Cys Single submitter Inborn genetic diseases ⚠
p.Ser823Asn Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ser91Asn Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Ser9Phe Single submitter amyotrophic lateral sclerosis type 21
p.Thr150Ser Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Thr155Pro Single submitter MATR3-related disorder ⚠
p.Thr239Ile Single submitter Inborn genetic diseases ⚠
p.Thr335Ala Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Thr338Ala Single submitter Inborn genetic diseases ⚠
p.Thr338Arg Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Thr396Ser Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Thr443Asn Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Thr455Ala Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Thr639Ser Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Thr774Ile Single submitter amyotrophic lateral sclerosis ⚠
p.Thr78Asn Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Thr847Ala Single submitter amyotrophic lateral sclerosis type 21 ⚠
p.Trp178Arg Single submitter amyotrophic lateral sclerosis type 21 ⚠