LARGE1 — 960 ClinVar variants

All ClinVar germline LARGE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 268 flagged for review →

26 Pathogenic · 1 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 37 Conflicting · 62 Benign · 19 Benign/Likely benign · 479 Likely benign · 325 Uncertain significance

Full LARGE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 268

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 8

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

LARGE1 p.Arg195His Conflicting Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Gln87Lys Conflicting Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Glu179Lys Conflicting Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Glu598Lys Conflicting Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Glu71Lys Conflicting Single submitter
muscular dystrophy
LARGE1 p.Thr631Met Conflicting Single submitter
Inborn genetic diseases
LARGE1 p.Val131Ile Conflicting Single submitter
Inborn genetic diseases
LARGE1 p.Val474Ile Conflicting Single submitter
muscular dystrophy-dystroglycanopathy type B6

Predictors lean, ClinVar uncertain 200

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 200

LARGE1 p.Ala149Ser Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Ala252Val Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Ala478Thr Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Ala752Gly Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg165Trp Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg286His Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
LARGE1 p.Arg448Gln Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg450His Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg601His Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg60Gln Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg60Trp Uncertain significance Multiple submitters
Inborn genetic diseases
LARGE1 p.Arg718Cys Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg77His Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg89Gln Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg95Gln Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg9Gln Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
LARGE1 p.Asn200Ser Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Asn410Ser Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Asn700Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LARGE1 p.Asp584Asn Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Gln314Glu Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Gln314Leu Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Gln82Arg Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Gln82His Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Glu112Lys Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Glu203Lys Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Glu207Asp Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Glu436Asp Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Glu464Lys Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Glu63Gly Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Glu74Ala Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Glu74Asp Uncertain significance Multiple submitters
Inborn genetic diseases
LARGE1 p.Glu74Lys Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
LARGE1 p.Glu753Lys Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Gly743Asp Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
LARGE1 p.Ile142Val Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Ile533Val Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Ile696Thr Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Leu430Val Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Lys100Glu Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Lys552Asn Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Lys748Arg Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Met559Ile Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Met569Val Uncertain significance Multiple submitters
LARGE1 p.Met738Thr Uncertain significance Multiple submitters
Inborn genetic diseases
LARGE1 p.Met738Val Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
LARGE1 p.Pro44Leu Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Pro659Leu Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Pro707Leu Uncertain significance Multiple submitters
LARGE1 p.Ser471Arg Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Ser555Asn Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Ser555Gly Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Thr184Ala Uncertain significance Multiple submitters
LARGE1 p.Thr184Met Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Thr472Met Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Thr55Arg Uncertain significance Multiple submitters
LARGE1 p.Thr55Lys Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Val140Ile Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Val154Ile Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
LARGE1 p.Val160Ile Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Val266Leu Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Val40Leu Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Val40Met Uncertain significance Multiple submitters
Inborn genetic diseases
LARGE1 p.Val534Met Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
LARGE1 p.Ala116Ser Uncertain significance Single submitter
LARGE1 p.Ala178Val Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Ala193Thr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Ala256Ser Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Ala469Val Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Ala49Glu Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Ala517Thr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Ala591Val Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg115Leu Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg165Gln Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg286Cys Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg365Cys Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg398Cys Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg447Gln Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg447Trp Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg515His Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg547His Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg62His Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg62Leu Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg643Trp Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg664Thr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg672Gln Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg673Ser Uncertain significance Single submitter
LARGE1 p.Arg718Pro Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg724Gly Uncertain significance Single submitter
Inborn genetic diseases
LARGE1 p.Arg724His Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg740His Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg741His Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg77Gly Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg89Gly Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg94His Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg95Pro Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg9Trp Uncertain significance Single submitter
LARGE1 p.Asn148Ser Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Asn339Ser Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Asn426Thr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Asn755Ser Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Asp197Ala Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Asp202Glu Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Asp244Gly Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Asp424Glu Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Asp473Val Uncertain significance Single submitter
LARGE1 p.Asp507Glu Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Asp666Glu Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Cys354Gly Uncertain significance Single submitter
LARGE1 p.Gln433His Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Gln518Pro Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
LARGE1 p.Gln59Leu Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Gln736Glu Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Glu106Ala Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Glu112Asp Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Glu125Val Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Glu466Lys Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Glu496Gly Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Glu66Lys Uncertain significance Single submitter
LARGE1 p.Glu75Ala Uncertain significance Single submitter
LARGE1 p.Gly109Ala Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Gly3Ala Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Gly409Ser Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Gly96Asp Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.His163Arg Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.His171Arg Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.His380Asp Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.His462Arg Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.His98Arg Uncertain significance Single submitter
LARGE1 p.Ile173Val Uncertain significance Single submitter
LARGE1 p.Ile251Asn Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Ile27Val Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Ile499Met Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Ile581Met Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Ile725Met Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Leu18Phe Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Leu204Pro Uncertain significance Single submitter
LARGE1 p.Leu222Pro Uncertain significance Single submitter
LARGE1 p.Leu291His Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Leu501Val Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Leu613Phe Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Leu622Val Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Lys158Thr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Lys262Glu Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Lys385Arg Uncertain significance Single submitter
LARGE1 p.Lys390Arg Uncertain significance Single submitter
LARGE1 p.Lys552Glu Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Lys721Arg Uncertain significance Single submitter
LARGE1 p.Met104Ile Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Met190Lys Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6

Predictors split 60

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

LARGE1 p.Ala252Thr Uncertain significance Multiple submitters
LARGE1 p.Ala635Thr Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg388Trp Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg414Gln Uncertain significance Multiple submitters
Inborn genetic diseases
LARGE1 p.Arg526His Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Asn76Thr Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Leu83Phe Uncertain significance Multiple submitters
Inborn genetic diseases
LARGE1 p.Met706Val Uncertain significance Multiple submitters
Inborn genetic diseases
LARGE1 p.Thr249Asn Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Val549Met Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Ala141Thr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Ala320Ser Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Ala320Thr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Ala340Val Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Ala478Val Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Ala645Thr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg195Cys Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg398His Uncertain significance Single submitter
LARGE1 p.Arg450Cys Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg455His Uncertain significance Single submitter
LARGE1 p.Arg603Gln Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg643Gln Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg650Trp Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Arg741Cys Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Asn122Lys Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Asn399Thr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Asn587Asp Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Asp334Glu Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Asp441Asn Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Asp656Asn Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Asp671Asn Uncertain significance Single submitter
Inborn genetic diseases
LARGE1 p.Gln314His Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Gln486Arg Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Glu323Asp Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Gly538Ser Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
LARGE1 p.Gly571Arg Uncertain significance Single submitter
LARGE1 p.Ile181Asn Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Leu231Ile Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Leu387Val Uncertain significance Single submitter
LARGE1 p.Leu485Ile Uncertain significance Single submitter
LARGE1 p.Leu600Pro Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Leu617Met Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Lys578Met Uncertain significance Single submitter
LARGE1 p.Lys589Glu Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Met325Thr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Met569Thr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Met592Thr Uncertain significance Single submitter
LARGE1 p.Phe170Leu Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Phe198Ile Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Phe417Cys Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Pro167Arg Uncertain significance Single submitter
LARGE1 p.Ser562Phe Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Thr621Ile Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Tyr602Asn Uncertain significance Single submitter
LARGE1 p.Tyr693Cys Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Val132Met Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Val299Met Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Val534Ala Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy type B6
LARGE1 p.Val697Leu Pathogenic Single submitter
retinitis pigmentosa
LARGE1 p.Arg665Cys Uncertain significance No assertion criteria

All LARGE1 variants

Pathogenic 26

p.Arg95Ter Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Ala256fs Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Arg53fs Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Arg89Ter Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Gln344Ter Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Gln368Ter Single submitter
p.Gln539fs Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Glu112Ter Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Glu207fs Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Glu464Ter Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Glu61fs Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Glu63fs Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Leu514fs Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Leu567fs Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Leu604fs Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Phe404fs Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Ser33fs Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Ser58fs Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Trp288Ter Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Trp316fs Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Trp630Ter Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Tyr558fs Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Val697Leu Single submitter retinitis pigmentosa ⚠
p.Cys667fs No assertion criteria muscular dystrophy-dystroglycanopathy type B6
p.Ser331Phe No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
p.Trp495Arg No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6

Pathogenic/Likely pathogenic 1

p.Glu509Lys Multiple submitters LARGE1-Related Disorders

Likely pathogenic 11

c.1132-2A>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1287+1G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1287+1G>C Single submitter muscular dystrophy-dystroglycanopathy type B6
c.2074-2A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.788-2A>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.788-5_826del Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Phe162fs Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Trp653Ter Single submitter
p.Tyr370Ter Single submitter LARGE-related disorder
p.Asn345fs No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
p.Lys283Ter No assertion criteria LARGE1-related disorder

Conflicting classifications of pathogenicity 37

c.1005+15T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.1132-8C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1287+11C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1730+1G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.2073+11C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.2073+12G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.408+8G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.492-4A>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.492-6C>G Single submitter Inborn genetic diseases
c.615+8C>T Single submitter muscular dystrophy
p.Ala596= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Arg195His Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg70= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Asn357= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Asn429= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
p.Asn548= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
p.Asp372= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Asp440= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Gln736= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
p.Gln87Lys Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Glu179Lys Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Glu537= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Glu598Lys Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Glu654= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Glu71Lys Single submitter muscular dystrophy ⚠
p.Ile24= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Ile533= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Leu303= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Leu412= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Pro659= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Ser33= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Ser84= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Thr364= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Thr631Met Single submitter Inborn genetic diseases ⚠
p.Tyr463= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
p.Val131Ile Single submitter Inborn genetic diseases ⚠
p.Val474Ile Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠

Benign 62

c.107-184G>C Multiple submitters
c.1451+197T>C Multiple submitters
c.1730+118G>A Multiple submitters
c.1730+67A>G Multiple submitters
c.1731-87G>T Multiple submitters
c.1731-88G>T Multiple submitters
c.1731-91C>G Multiple submitters
c.1877+89G>A Multiple submitters
c.2073+36C>T Multiple submitters
c.2074-69C>T Multiple submitters
c.408+144G>A Multiple submitters
c.408+247G>A Multiple submitters
c.615+139G>C Multiple submitters
c.615+191A>G Multiple submitters
c.788-181G>A Multiple submitters
c.892+79T>G Multiple submitters
c.893-235T>G Multiple submitters
c.-177C>T Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.-397C>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.-63C>T Multiple submitters muscular dystrophy-dystroglycanopathy type B6
c.*154C>A Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.*921C>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
p.Asp336= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
p.Ser609= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Thr184= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.1006-195G>A Single submitter
c.1006-280A>G Single submitter
c.1131+258C>G Single submitter
c.1132-153C>T Single submitter
c.1132-175A>G Single submitter
c.1132-190G>T Single submitter
c.1132-208G>A Single submitter
c.1132-318A>G Single submitter
c.1287+105G>C Single submitter
c.1288-214G>A Single submitter
c.1452-209T>C Single submitter
c.1452-225C>G Single submitter
c.1452-254A>C Single submitter
c.1730+239G>A Single submitter
c.1730+286A>G Single submitter
c.1877+183C>T Single submitter
c.2074-109G>A Single submitter
c.409-65del Single submitter
c.615+246A>G Single submitter
c.787+120G>C Single submitter
c.787+158T>C Single submitter
c.787+286G>T Single submitter
c.788-330A>C Single submitter
c.788-331_788-330insATGCATGA Single submitter
c.788-331_788-330insATGCATGAATGA Single submitter
c.788-331_788-330insATGCGTGA Single submitter
c.788-333ATGA[10] Single submitter
c.788-333ATGA[8] Single submitter
c.893-64_893-55del Single submitter
c.-82-194_-82-192del Single submitter
c.-82-269A>G Single submitter
c.-83+62952T>C Single submitter
c.-83+63217G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.-83+63438C>T Single submitter
c.*1201A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.*740A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.*856G>A Single submitter muscular dystrophy-dystroglycanopathy type B6

Benign/Likely benign 19

c.1452-28C>T Multiple submitters
c.1731-24T>C Multiple submitters
c.1878-11G>T Multiple submitters muscular dystrophy-dystroglycanopathy type B6
c.892+50C>T Multiple submitters
c.893-17C>G Multiple submitters muscular dystrophy-dystroglycanopathy type B6
c.-31G>A Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.-83+63202T>G Multiple submitters muscular dystrophy-dystroglycanopathy type B6
c.*207G>A Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
p.Ala145= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
p.Arg650Gln Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
p.Arg665His Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
p.Asn700= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Cys667= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Met592Ile Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Ser103= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
p.Ser84Thr Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
p.Thr55= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Thr55Ala Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Tyr516= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6

Likely benign 479

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

c.1005+98G>A Multiple submitters
c.1006-5C>T Multiple submitters muscular dystrophy-dystroglycanopathy type B6
c.107-11T>C Multiple submitters muscular dystrophy-dystroglycanopathy type B6
c.1131+12A>T Multiple submitters muscular dystrophy-dystroglycanopathy type B6
c.1287+12G>A Multiple submitters muscular dystrophy-dystroglycanopathy type B6
c.1287+13C>T Multiple submitters muscular dystrophy-dystroglycanopathy type B6
c.1451+12G>A Multiple submitters muscular dystrophy-dystroglycanopathy type B6
c.1451+38C>T Multiple submitters
c.1730+8C>T Multiple submitters muscular dystrophy-dystroglycanopathy type B6
c.1731-17C>T Multiple submitters muscular dystrophy-dystroglycanopathy type B6
c.1877+20G>A Multiple submitters muscular dystrophy-dystroglycanopathy type B6
c.1878-24A>G Multiple submitters
c.2073+12G>T Multiple submitters muscular dystrophy-dystroglycanopathy type B6
c.2073+152G>A Multiple submitters
c.2074-98G>C Multiple submitters
c.408+269G>A Multiple submitters
c.408+7G>A Multiple submitters muscular dystrophy-dystroglycanopathy type B6
c.409-19C>T Multiple submitters muscular dystrophy-dystroglycanopathy type B6
c.491+14C>A Multiple submitters muscular dystrophy-dystroglycanopathy type B6
c.491+204G>A Multiple submitters
c.492-11A>G Multiple submitters muscular dystrophy-dystroglycanopathy type B6
c.492-8C>T Multiple submitters muscular dystrophy-dystroglycanopathy type B6
c.615+19G>A Multiple submitters muscular dystrophy-dystroglycanopathy type B6
c.787+14A>T Multiple submitters muscular dystrophy-dystroglycanopathy type B6
c.788-29A>G Multiple submitters
c.788-65A>G Multiple submitters
p.Ala611= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Ala635= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Ala78= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Arg6= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Arg62= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Asn528= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Asp202= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Cys144= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Glu66= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Gly519= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Gly538= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.His139= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.His634= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Ile239= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Ile27= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Leu12= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Leu302= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Leu79= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Phe597= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Phe712= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Pro595= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Pro668= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Ser111= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Ser159= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Ser739= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Thr230= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Thr319= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Thr472= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Thr647= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Tyr742= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Val153= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Val72= Multiple submitters muscular dystrophy-dystroglycanopathy type B6
c.1005+11A>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1005+12G>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1005+13G>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1005+176C>T Single submitter
c.1005+17G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1005+17G>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1005+282G>A Single submitter
c.1005+9C>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1006-11del Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1006-14C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1006-20C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1006-4C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1006-6C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1006-7C>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.106+10G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.106+14C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.106+7A>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.107-16G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.107-19C>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.107-6C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.107-7T>C Single submitter muscular dystrophy-dystroglycanopathy type B6
c.107-8C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.107-9G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1131+10A>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1131+110G>T Single submitter
c.1131+11C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1131+12_1131+13insAACAGAGGGACATCCCTGGAGGTAGGGTG Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1131+15G>C Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1131+16G>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1131+17G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1131+20A>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1131+221C>T Single submitter
c.1131+58C>T Single submitter
c.1132-10T>C Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1132-11C>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1132-16del Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1132-4C>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1132-4C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1132-5G>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1287+12G>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1287+146C>T Single submitter
c.1287+15_1287+16insGGCTCGCAAAA Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1287+17G>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1287+19T>C Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1287+56A>G Single submitter
c.1288-10T>C Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1288-11C>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1288-125G>A Single submitter
c.1288-12C>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1288-17T>C Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1288-18C>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1288-18C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1288-19C>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1288-19C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1288-6C>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1288-6C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1288-7C>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1288-8C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1451+10A>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1451+11C>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1451+11C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1451+12G>C Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1451+13G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1451+273A>G Single submitter
c.1451+9G>C Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1452-1058A>T Single submitter
c.1452-13C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1452-13dup Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1452-19C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1452-226_1452-225insGATATCA Single submitter
c.1452-293A>G Single submitter
c.1452-5T>C Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1452-7C>T Single submitter
c.1452-9C>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1730+13A>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1730+16G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1730+7A>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1731-10C>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1731-10C>T Single submitter
c.1731-11C>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1731-18C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1731-19G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1731-8_1731-7del Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1731-9T>C Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1877+11C>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1877+12T>C Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1877+13A>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1877+16T>C Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1877+17G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1877+17G>C Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1877+19T>C Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1877+8del Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1877+99C>T Single submitter
c.1878-11G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1878-11GT[2] Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1878-12C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1878-13C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1878-20C>T Single submitter
c.1878-4T>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.2073+13G>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.2073+16C>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.2073+20C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.2074-11T>C Single submitter muscular dystrophy-dystroglycanopathy type B6
c.2074-11T>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.2074-12G>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.2074-16T>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.2074-18G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.2074-18G>C Single submitter muscular dystrophy-dystroglycanopathy type B6
c.2074-18G>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.2074-265G>A Single submitter
c.2074-3del Single submitter muscular dystrophy-dystroglycanopathy type B6
c.2074-4C>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.2074-6T>C Single submitter muscular dystrophy-dystroglycanopathy type B6
c.2074-7C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.2074-8T>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.408+17G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.408+18C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.408+19C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.408+42C>T Single submitter
c.409-15T>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.409-16C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.409-18G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.409-21C>T Single submitter
c.409-39G>C Single submitter
c.491+11C>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.491+11C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.491+14C>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.491+19C>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.491+19C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.491+20T>C Single submitter muscular dystrophy-dystroglycanopathy type B6
c.491+20T>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.491+9A>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.492-10C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.492-14C>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.492-20C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.492-5C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.492-6C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.615+10G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.615+12A>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.615+15G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.615+7dup Single submitter muscular dystrophy-dystroglycanopathy type B6
c.615+7G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.616-13T>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.616-14C>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.616-18C>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.616-20C>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.616-20C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.616-26CT[6] Single submitter muscular dystrophy-dystroglycanopathy type B6
c.616-304T>G Single submitter
c.616-39del Single submitter
c.616-4C>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.616-7T>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.787+10G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.787+11C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.787+12_787+19dup Single submitter muscular dystrophy-dystroglycanopathy type B6
c.787+14del Single submitter muscular dystrophy-dystroglycanopathy type B6
c.787+17C>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.787+17C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.787+18G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.787+20T>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.787+5T>C Single submitter muscular dystrophy-dystroglycanopathy type B6
c.788-11G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.788-11G>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.788-15C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.788-15CT[3] Single submitter
c.788-17T>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.788-17T>C Single submitter muscular dystrophy-dystroglycanopathy type B6
c.788-18A>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.788-331_788-330insATGCATGCATGA Single submitter
c.788-333ATGA[11] Single submitter
c.788-346CATG[5] Single submitter
c.788-7C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.788-8C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.892+11_892+12del Single submitter muscular dystrophy-dystroglycanopathy type B6
c.892+11A>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.892+19A>C Single submitter muscular dystrophy-dystroglycanopathy type B6
c.892+7C>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.892+8C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.893-10T>C Single submitter muscular dystrophy-dystroglycanopathy type B6
c.893-13T>C Single submitter muscular dystrophy-dystroglycanopathy type B6
c.893-14G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.893-15T>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.893-16C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.893-18T>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.893-19A>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.893-21_893-20del Single submitter muscular dystrophy-dystroglycanopathy type B6
c.893-7T>C Single submitter muscular dystrophy-dystroglycanopathy type B6
c.893-9G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.-82-16_-82-15del Single submitter
c.-82-19T>C Single submitter
c.-83+187C>T Single submitter
c.-83+63134A>G Single submitter
c.-83+63195C>A Single submitter
c.-83+63246C>T Single submitter
c.-83+63247G>A Single submitter
c.*1235A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.*796C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
p.Ala149= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Ala178= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Ala183= Single submitter
p.Ala252= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Ala340= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Ala478= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Ala508= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Ala517= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Ala640= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Ala655= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Ala745= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Ala752= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Arg165= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Arg308= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Arg365= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Arg371= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Arg414= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Arg515= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Arg526= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Arg53= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Arg650= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Arg68= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Arg77= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Arg8= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Arg81= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Arg9= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Arg95= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Asn213= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Asn587= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Asn638= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Asn720= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Asn754= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Asp175= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Asp250= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Asp408= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Asp424= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Asp438= Single submitter
p.Asp473= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Asp507= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Asp666= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Asp713= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Cys135= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Cys419= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Cys5= Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Gln129= Single submitter muscular dystrophy-dystroglycanopathy type B6

Uncertain significance 325

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

c.*155C>T Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Ala149Ser Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ala252Thr Multiple submitters ⚠
p.Ala252Val Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ala478Thr Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ala635Thr Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ala752Gly Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg165Trp Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg286His Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 ⚠
p.Arg308Gln Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Arg365His Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Arg388Trp Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg414Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg448Gln Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg450His Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg526His Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg601His Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg60Gln Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg60Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg718Cys Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg77His Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg89Gln Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg95Gln Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg9Gln Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 ⚠
p.Asn200Ser Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Asn410Ser Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Asn700Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn76Thr Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Asp584Asn Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Gln314Glu Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Gln314Leu Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Gln82Arg Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Gln82His Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Glu112Lys Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Glu203Lys Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Glu207Asp Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Glu436Asp Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Glu464Lys Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Glu63Gly Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Glu74Ala Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Glu74Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu74Lys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 ⚠
p.Glu753Lys Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Gly743Asp Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 ⚠
p.Ile142Val Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ile533Val Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ile696Thr Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Leu430Val Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Leu476Met Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
p.Leu83Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu85_Ala86dup Multiple submitters muscular dystrophy-dystroglycanopathy type B6
p.Lys100Glu Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Lys552Asn Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Lys748Arg Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Met559Ile Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Met569Val Multiple submitters ⚠
p.Met706Val Multiple submitters Inborn genetic diseases ⚠
p.Met738Thr Multiple submitters Inborn genetic diseases ⚠
p.Met738Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 ⚠
p.Pro44Leu Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Pro659Leu Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Pro707Leu Multiple submitters ⚠
p.Ser471Arg Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ser555Asn Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ser555Gly Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Thr184Ala Multiple submitters ⚠
p.Thr184Met Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Thr249Asn Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Thr472Met Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Thr55Arg Multiple submitters ⚠
p.Thr55Lys Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Val140Ile Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Val154Ile Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 ⚠
p.Val160Ile Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Val266Leu Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Val40Leu Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Val40Met Multiple submitters Inborn genetic diseases ⚠
p.Val534Met Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 ⚠
p.Val549Met Multiple submitters muscular dystrophy-dystroglycanopathy type B6 ⚠
c.1005+3G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1005+5G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.106+3A>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.106+6A>C Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1131+4G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1132-3C>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.1287+2dup Single submitter muscular dystrophy-dystroglycanopathy type B6
c.408+5A>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.491+3A>G Single submitter
c.492-3C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.616-3del Single submitter
c.893-9_893-8insATCCTGTGCTGCTGCCCAGGGGTG Single submitter muscular dystrophy-dystroglycanopathy type B6
c.-194G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.-202C>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.-242C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.-247T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.-271G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.-277T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.-287A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.-292G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.-343C>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.-359C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.-377C>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.-399A>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.-455G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.-47C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.-480C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.-83+63184A>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.*100C>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.*1229G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.*186C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.*455C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.*479A>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.*499G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.*501T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.*566G>A Single submitter muscular dystrophy-dystroglycanopathy type B6
c.*580C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.*639T>G Single submitter muscular dystrophy-dystroglycanopathy type B6
c.*699G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.*798G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.*833A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.*849C>T Single submitter muscular dystrophy-dystroglycanopathy type B6
c.*969G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.*995T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
c.*998A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
p.Ala116Ser Single submitter ⚠
p.Ala141Thr Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ala178Val Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ala193Thr Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ala256Ser Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ala320Ser Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ala320Thr Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ala340Val Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ala469Val Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ala478Val Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ala49Glu Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ala517Thr Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ala591Val Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ala645Thr Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ala745Asp Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Arg115Leu Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg165Gln Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg195Cys Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg286Cys Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg308Lys Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Arg365Cys Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg398Cys Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg398His Single submitter ⚠
p.Arg447Gln Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg447Trp Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg450Cys Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg455His Single submitter ⚠
p.Arg515His Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg547His Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg603Gln Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg62His Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg62Leu Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg643Gln Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg643Trp Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg650Trp Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg664Thr Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg672Gln Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg673Ser Single submitter ⚠
p.Arg718Pro Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg724Gly Single submitter Inborn genetic diseases ⚠
p.Arg724His Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg740His Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg741Cys Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg741His Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg77Gly Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg80Leu Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Arg89Gly Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg94His Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg95Pro Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Arg9Trp Single submitter ⚠
p.Asn122Lys Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Asn148His Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Asn148Ser Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Asn339Ser Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Asn399Thr Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Asn426Thr Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Asn587Asp Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Asn755del Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Asn755Ser Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Asp197Ala Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Asp202Glu Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Asp244Gly Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Asp334Glu Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Asp424Glu Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Asp441Asn Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Asp473Val Single submitter ⚠
p.Asp507Glu Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Asp656Asn Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Asp666Glu Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Asp671Asn Single submitter Inborn genetic diseases ⚠
p.Cys354Gly Single submitter ⚠
p.Gln314His Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Gln433His Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Gln486Arg Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Gln518Pro Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 ⚠
p.Gln59Leu Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Gln736Glu Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Glu106Ala Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Glu112Asp Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Glu125Val Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Glu323Asp Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Glu466Lys Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Glu496Gly Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Glu66Lys Single submitter ⚠
p.Glu692Ter Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Glu694_Tyr702delinsAsp Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Glu75Ala Single submitter ⚠
p.Gly109Ala Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Gly3Ala Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Gly409Ser Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Gly538Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 ⚠
p.Gly571Arg Single submitter ⚠
p.Gly96Asp Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.His163Arg Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.His169Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
p.His171Arg Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.His380Asp Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.His462Arg Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.His98Arg Single submitter ⚠
p.Ile173Val Single submitter ⚠
p.Ile181Asn Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ile251Asn Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ile27Val Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ile499Met Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ile581Met Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ile725Met Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Leu16Trp Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Leu18Phe Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Leu204Pro Single submitter ⚠
p.Leu222Pro Single submitter ⚠
p.Leu231Ile Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Leu291His Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Leu387Val Single submitter ⚠
p.Leu485Ile Single submitter ⚠
p.Leu501Val Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Leu600Pro Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Leu613Phe Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Leu617Met Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Leu622Val Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Leu65Pro Single submitter muscular dystrophy-dystroglycanopathy type B6
p.Lys158Thr Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Lys262Glu Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Lys385Arg Single submitter ⚠
p.Lys390Arg Single submitter ⚠
p.Lys552Glu Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Lys578Met Single submitter ⚠
p.Lys589Glu Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Lys721Arg Single submitter ⚠
p.Met104Ile Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Met190Lys Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Met310Lys Single submitter ⚠
p.Met325Thr Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Met524Leu Single submitter ⚠
p.Met559Lys Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Met559Val Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Met569Thr Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Met592Thr Single submitter ⚠
p.Met616Leu Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Met69Thr Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Phe170Leu Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Phe170Val Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Phe198Ile Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Phe198Leu Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Phe30Leu Single submitter
p.Phe417Cys Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Phe717Leu Single submitter ⚠
p.Pro167Arg Single submitter ⚠
p.Pro39Ser Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Pro568Ala Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Pro568Arg Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Pro707Ala Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Pro91Gln Single submitter ⚠
p.Ser33Asn Single submitter ⚠
p.Ser41Phe Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ser421Gly Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ser427Gly Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ser471Gly Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ser47Phe Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ser51Asn Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ser51Gly Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ser562Phe Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ser58Asn Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Ser84Ile Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Thr108Ala Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Thr243Arg Single submitter ⚠
p.Thr243Met Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Thr25Ala Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Thr25Ile Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Thr452Ile Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 ⚠
p.Thr55Met Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Thr621Ile Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Thr637Pro Single submitter ⚠
p.Thr647Met Single submitter muscular dystrophy-dystroglycanopathy type B6 ⚠
p.Trp288Arg Single submitter ⚠
p.Tyr102His Single submitter ⚠
p.Tyr401Leu Single submitter muscular dystrophy-dystroglycanopathy type B6