SUN2 — 538 ClinVar variants

All ClinVar germline SUN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 266 flagged for review →

6 Conflicting · 35 Benign · 4 Benign/Likely benign · 196 Likely benign · 297 Uncertain significance

Full SUN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 266

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 6

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

SUN2 p.Ala93Thr Conflicting Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg10His Conflicting Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg379Gln Conflicting Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Ser434Leu Conflicting Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Val141Met Conflicting Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Val146Ala Conflicting Single submitter
Emery-Dreifuss muscular dystrophy

Predictors lean, ClinVar uncertain 213

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 213

SUN2 p.Ala158Thr Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala251Val Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala380Asp Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala508Val Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala56Val Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg100Gln Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg104Lys Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg121His Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg154Trp Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg161Gln Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg175Gln Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg190Leu Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg206Ser Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg285Gln Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg311Gln Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg338His Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg339Leu Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg379Trp Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg450Gln Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg467Gln Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg467Gly Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg52Cys Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg538Cys Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg538His Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg614Cys Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg7Cys Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg83Gly Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Asp372Gly Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Asp37Asn Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Asp668Asn Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Gln58Lys Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Glu437Ala Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Glu714Lys Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Glu77Asp Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Glu77Lys Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Gly14Val Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Gly174Val Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Ile521Thr Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Met398Ile Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Pro61Leu Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Ser144Leu Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Ser150Thr Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Ser151Cys Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Ser25Asn Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Ser267Leu Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Ser503Leu Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Thr171Ile Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Thr224Met Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Thr666Ile Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Thr9Met Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Tyr11His Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Val202Ile Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala184Ser Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala230Val Uncertain significance Single submitter
SUN2 p.Ala251Gly Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala289Asp Uncertain significance Single submitter
SUN2 p.Ala292Thr Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala330Val Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala353Gly Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala353Thr Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala361Ser Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala436Val Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala466Thr Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala535Pro Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala550Thr Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala603Thr Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala611Thr Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala623Ser Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala632Thr Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala647Thr Uncertain significance Single submitter
SUN2 p.Ala647Val Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala681Thr Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala716Asp Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg100Trp Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg103Ser Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg121Cys Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg190His Uncertain significance Single submitter
SUN2 p.Arg206Leu Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg264Lys Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg275His Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg307His Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg311Trp Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg348Leu Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg354His Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg363Lys Uncertain significance Single submitter
SUN2 p.Arg387His Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg413Gln Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg472Cys Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg472His Uncertain significance Single submitter
SUN2 p.Arg505Thr Uncertain significance Single submitter
SUN2 p.Arg614His Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg620His Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg693Gln Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg693Leu Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg708Cys Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg7His Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg83Lys Uncertain significance Single submitter
SUN2 p.Asn94Lys Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Asn94Ser Uncertain significance Single submitter
SUN2 p.Asp139Asn Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Asp16Asn Uncertain significance Single submitter
SUN2 p.Asp253Glu Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Asp372Tyr Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Asp451Gly Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Asp542Gly Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Asp652Asn Uncertain significance Single submitter
SUN2 p.Cys705Ser Uncertain significance Single submitter
SUN2 p.Gln31Arg Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Gln367Arg Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Gln390Arg Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Gln417His Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Gln422Leu Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Gln516Arg Uncertain significance Single submitter
SUN2 p.Gln527Glu Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Gln657Arg Uncertain significance Single submitter
SUN2 p.Gln680Arg Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Gln680Pro Uncertain significance Single submitter
SUN2 p.Glu125Ala Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Glu273Gln Uncertain significance Single submitter
SUN2 p.Glu273Lys Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Glu326Lys Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Glu333Gly Uncertain significance Single submitter
SUN2 p.Glu358Gln Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Glu385Lys Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Glu424Lys Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Glu438Asp Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Glu454Asp Uncertain significance Single submitter
SUN2 p.Glu479Gln Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Glu518Gly Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Glu568Lys Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Glu627Gln Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Glu653Lys Uncertain significance Single submitter
SUN2 p.Glu658Lys Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Glu672Lys Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Glu691Asp Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Glu702Gln Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Glu702Gly Uncertain significance Single submitter
SUN2 p.Glu97Lys Uncertain significance Single submitter
SUN2 p.Gly174Arg Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Gly18Asp Uncertain significance Single submitter
SUN2 p.Gly237Trp Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Gly24Ala Uncertain significance Single submitter
SUN2 p.Gly260Asp Uncertain significance Single submitter
SUN2 p.Gly260Ser Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Gly313Arg Uncertain significance Single submitter
SUN2 p.Gly318Arg Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Gly420Ser Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Gly469Ala Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Gly470Ala Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Gly474Glu Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy

Predictors split 47

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

SUN2 p.Ala330Pro Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg102Gln Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg102Trp Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg279Trp Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg304Gln Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg304Trp Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg307Cys Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg348Cys Benign Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg3Gln Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg450Trp Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg589Gln Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg620Cys Likely benign Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Asp595Glu Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Glu489Asp Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Gly671Ser Benign Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Leu465His Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Pro458Leu Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Pro673Thr Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Ser78Phe Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala195Pro Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala230Pro Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala364Pro Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala504Pro Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala56Pro Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Ala632Pro Uncertain significance Single submitter
SUN2 p.Arg275Cys Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg285Trp Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg339Cys Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg354Cys Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg413Trp Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Arg543Cys Uncertain significance Single submitter
SUN2 p.Arg614Ser Uncertain significance Single submitter
SUN2 p.Glu72Val Uncertain significance Single submitter
SUN2 p.Gly174Asp Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Gly319Cys Uncertain significance Single submitter
SUN2 p.Gly545Arg Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Gly578Ser Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Leu310Pro Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Leu331Pro Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Leu662Ile Uncertain significance Single submitter
SUN2 p.Lys631Asn Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Ser455Phe Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Thr571Met Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Trp167Cys Uncertain significance Single submitter
SUN2 p.Trp182Arg Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy
SUN2 p.Val528Ala Uncertain significance Single submitter
SUN2 p.Val532Met Uncertain significance Single submitter

All SUN2 variants

Conflicting classifications of pathogenicity 6

p.Ala93Thr Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg10His Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg379Gln Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ser434Leu Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Val141Met Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Val146Ala Single submitter Emery-Dreifuss muscular dystrophy ⚠

Benign 35

c.122+29C>T Multiple submitters
c.122+60C>T Multiple submitters
c.1578+28A>G Multiple submitters
c.2041-216T>A Multiple submitters
c.286+18C>T Multiple submitters Emery-Dreifuss muscular dystrophy
c.614+50G>A Multiple submitters
c.614+6C>T Multiple submitters Emery-Dreifuss muscular dystrophy
c.813+89C>T Multiple submitters
c.-37-126G>T Multiple submitters
p.Ala162Val Multiple submitters Emery-Dreifuss muscular dystrophy
p.Arg348Cys Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg52His Multiple submitters Emery-Dreifuss muscular dystrophy
p.Asp452= Multiple submitters Emery-Dreifuss muscular dystrophy
p.Asp92= Multiple submitters Emery-Dreifuss muscular dystrophy
p.Gln608= Multiple submitters Emery-Dreifuss muscular dystrophy
p.Gly671Ser Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Ile531Val Multiple submitters Emery-Dreifuss muscular dystrophy
p.Leu89Arg Multiple submitters Emery-Dreifuss muscular dystrophy
p.Pro219Leu Multiple submitters Emery-Dreifuss muscular dystrophy
p.Thr33Ala Multiple submitters Emery-Dreifuss muscular dystrophy
p.Tyr667= Multiple submitters Emery-Dreifuss muscular dystrophy
p.Val378Ile Multiple submitters Emery-Dreifuss muscular dystrophy
c.1147-195_1147-194dup Single submitter
c.424+17C>T Single submitter Emery-Dreifuss muscular dystrophy
c.425-202G>A Single submitter
c.615-19G>A Single submitter Emery-Dreifuss muscular dystrophy
c.-37-192A>G Single submitter
p.Ala632= Single submitter Emery-Dreifuss muscular dystrophy
p.His325= Single submitter Emery-Dreifuss muscular dystrophy
p.Pro458Ser Single submitter Emery-Dreifuss muscular dystrophy
p.Pro580= Single submitter Emery-Dreifuss muscular dystrophy
p.Ser157= Single submitter Emery-Dreifuss muscular dystrophy
p.Ser434= Single submitter Emery-Dreifuss muscular dystrophy
p.Tyr140= Single submitter Emery-Dreifuss muscular dystrophy
p.Val449Met Single submitter Emery-Dreifuss muscular dystrophy

Benign/Likely benign 4

c.1663+10C>G Multiple submitters Emery-Dreifuss muscular dystrophy
c.614+7G>A Multiple submitters Emery-Dreifuss muscular dystrophy
p.Ala508= Multiple submitters Emery-Dreifuss muscular dystrophy
p.Tyr567= Multiple submitters Emery-Dreifuss muscular dystrophy

Likely benign 196

c.425-11G>A Multiple submitters Emery-Dreifuss muscular dystrophy
p.Ala419= Multiple submitters Emery-Dreifuss muscular dystrophy
p.Arg10Cys Multiple submitters Emery-Dreifuss muscular dystrophy
p.Arg620Cys Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Asp452Asn Multiple submitters Emery-Dreifuss muscular dystrophy
p.Pro219= Multiple submitters Emery-Dreifuss muscular dystrophy
p.Ser144= Multiple submitters Emery-Dreifuss muscular dystrophy
p.Tyr549= Multiple submitters Emery-Dreifuss muscular dystrophy
p.Gly474= Single submitter Emery-Dreifuss muscular dystrophy
c.1068+16C>T Single submitter Emery-Dreifuss muscular dystrophy
c.1068+7G>A Single submitter Emery-Dreifuss muscular dystrophy
c.1069-10C>T Single submitter Emery-Dreifuss muscular dystrophy
c.1069-9G>A Single submitter Emery-Dreifuss muscular dystrophy
c.1146+14C>T Single submitter Emery-Dreifuss muscular dystrophy
c.1146+15G>A Single submitter Emery-Dreifuss muscular dystrophy
c.1146+7G>A Single submitter Emery-Dreifuss muscular dystrophy
c.1146+9G>T Single submitter Emery-Dreifuss muscular dystrophy
c.1147-11T>C Single submitter Emery-Dreifuss muscular dystrophy
c.1147-19G>C Single submitter Emery-Dreifuss muscular dystrophy
c.1190+10G>A Single submitter Emery-Dreifuss muscular dystrophy
c.1190+15C>A Single submitter Emery-Dreifuss muscular dystrophy
c.1190+9C>T Single submitter Emery-Dreifuss muscular dystrophy
c.1191-4C>T Single submitter Emery-Dreifuss muscular dystrophy
c.122+17G>A Single submitter Emery-Dreifuss muscular dystrophy
c.123-12G>T Single submitter Emery-Dreifuss muscular dystrophy
c.123-14T>C Single submitter Emery-Dreifuss muscular dystrophy
c.123-19C>G Single submitter Emery-Dreifuss muscular dystrophy
c.1356+20del Single submitter Emery-Dreifuss muscular dystrophy
c.1356+4_1356+8dup Single submitter Emery-Dreifuss muscular dystrophy
c.1357-10G>T Single submitter Emery-Dreifuss muscular dystrophy
c.1357-9T>A Single submitter Emery-Dreifuss muscular dystrophy
c.1663+13C>T Single submitter Emery-Dreifuss muscular dystrophy
c.1664-11T>C Single submitter Emery-Dreifuss muscular dystrophy
c.1664-18C>T Single submitter Emery-Dreifuss muscular dystrophy
c.1664-8T>C Single submitter Emery-Dreifuss muscular dystrophy
c.1779+16G>C Single submitter Emery-Dreifuss muscular dystrophy
c.1779+17C>A Single submitter Emery-Dreifuss muscular dystrophy
c.1779+7A>T Single submitter Emery-Dreifuss muscular dystrophy
c.1947+12T>C Single submitter Emery-Dreifuss muscular dystrophy
c.1947+7A>G Single submitter Emery-Dreifuss muscular dystrophy
c.1948-13G>A Single submitter Emery-Dreifuss muscular dystrophy
c.1948-14C>T Single submitter Emery-Dreifuss muscular dystrophy
c.1948-9T>C Single submitter Emery-Dreifuss muscular dystrophy
c.2040+19C>G Single submitter Emery-Dreifuss muscular dystrophy
c.2040+8A>G Single submitter Emery-Dreifuss muscular dystrophy
c.2041-16T>C Single submitter Emery-Dreifuss muscular dystrophy
c.286+12G>T Single submitter Emery-Dreifuss muscular dystrophy
c.286+15del Single submitter Emery-Dreifuss muscular dystrophy
c.286+18C>A Single submitter Emery-Dreifuss muscular dystrophy
c.286+19G>A Single submitter Emery-Dreifuss muscular dystrophy
c.287-16G>A Single submitter Emery-Dreifuss muscular dystrophy
c.287-17G>C Single submitter Emery-Dreifuss muscular dystrophy
c.287-7T>C Single submitter Emery-Dreifuss muscular dystrophy
c.425-12C>T Single submitter Emery-Dreifuss muscular dystrophy
c.425-4G>A Single submitter Emery-Dreifuss muscular dystrophy
c.425-4G>T Single submitter Emery-Dreifuss muscular dystrophy
c.425-9T>C Single submitter Emery-Dreifuss muscular dystrophy
c.520+14C>T Single submitter Emery-Dreifuss muscular dystrophy
c.520+15G>A Single submitter Emery-Dreifuss muscular dystrophy
c.520+18C>G Single submitter Emery-Dreifuss muscular dystrophy
c.520+8G>A Single submitter Emery-Dreifuss muscular dystrophy
c.521-20C>T Single submitter Emery-Dreifuss muscular dystrophy
c.614+14C>T Single submitter Emery-Dreifuss muscular dystrophy
c.614+18C>T Single submitter Emery-Dreifuss muscular dystrophy
c.615-10C>T Single submitter Emery-Dreifuss muscular dystrophy
c.615-11G>A Single submitter Emery-Dreifuss muscular dystrophy
c.615-12C>T Single submitter Emery-Dreifuss muscular dystrophy
c.615-9G>A Single submitter Emery-Dreifuss muscular dystrophy
c.685+12T>A Single submitter Emery-Dreifuss muscular dystrophy
c.686-12C>T Single submitter Emery-Dreifuss muscular dystrophy
c.686-13C>G Single submitter Emery-Dreifuss muscular dystrophy
c.686-13C>T Single submitter Emery-Dreifuss muscular dystrophy
c.686-5C>T Single submitter Emery-Dreifuss muscular dystrophy
c.814-17T>G Single submitter Emery-Dreifuss muscular dystrophy
c.814-4C>G Single submitter Emery-Dreifuss muscular dystrophy
p.Ala158= Single submitter Emery-Dreifuss muscular dystrophy
p.Ala162= Single submitter Emery-Dreifuss muscular dystrophy
p.Ala251= Single submitter Emery-Dreifuss muscular dystrophy
p.Ala330= Single submitter Emery-Dreifuss muscular dystrophy
p.Ala341= Single submitter Emery-Dreifuss muscular dystrophy
p.Ala364= Single submitter Emery-Dreifuss muscular dystrophy
p.Ala426= Single submitter Emery-Dreifuss muscular dystrophy
p.Ala436= Single submitter Emery-Dreifuss muscular dystrophy
p.Ala448= Single submitter Emery-Dreifuss muscular dystrophy
p.Ala507= Single submitter Emery-Dreifuss muscular dystrophy
p.Ala509= Single submitter
p.Ala56= Single submitter Emery-Dreifuss muscular dystrophy
p.Ala572= Single submitter Emery-Dreifuss muscular dystrophy
p.Ala623= Single submitter Emery-Dreifuss muscular dystrophy
p.Ala681= Single submitter Emery-Dreifuss muscular dystrophy
p.Arg102= Single submitter Emery-Dreifuss muscular dystrophy
p.Arg114= Single submitter Emery-Dreifuss muscular dystrophy
p.Arg154Gln Single submitter Emery-Dreifuss muscular dystrophy
p.Arg156Gln Single submitter Emery-Dreifuss muscular dystrophy
p.Arg255= Single submitter Emery-Dreifuss muscular dystrophy
p.Arg279Gln Single submitter Emery-Dreifuss muscular dystrophy
p.Arg304= Single submitter Emery-Dreifuss muscular dystrophy
p.Arg348His Single submitter Emery-Dreifuss muscular dystrophy
p.Arg349= Single submitter Emery-Dreifuss muscular dystrophy
p.Arg472= Single submitter Emery-Dreifuss muscular dystrophy
p.Arg83= Single submitter Emery-Dreifuss muscular dystrophy
p.Asn49= Single submitter Emery-Dreifuss muscular dystrophy
p.Asp15= Single submitter Emery-Dreifuss muscular dystrophy
p.Asp17= Single submitter Emery-Dreifuss muscular dystrophy
p.Asp199= Single submitter Emery-Dreifuss muscular dystrophy
p.Asp258Gly Single submitter Emery-Dreifuss muscular dystrophy
p.Asp372Ala Single submitter
p.Asp451= Single submitter Emery-Dreifuss muscular dystrophy
p.Asp670= Single submitter Emery-Dreifuss muscular dystrophy
p.Gln422= Single submitter Emery-Dreifuss muscular dystrophy
p.Glu111= Single submitter Emery-Dreifuss muscular dystrophy
p.Glu371= Single submitter Emery-Dreifuss muscular dystrophy
p.Glu383= Single submitter Emery-Dreifuss muscular dystrophy
p.Glu405= Single submitter Emery-Dreifuss muscular dystrophy
p.Glu479= Single submitter Emery-Dreifuss muscular dystrophy
p.Glu506= Single submitter
p.Glu525= Single submitter Emery-Dreifuss muscular dystrophy
p.Glu77= Single submitter Emery-Dreifuss muscular dystrophy
p.Glu87= Single submitter Emery-Dreifuss muscular dystrophy
p.Gly129= Single submitter Emery-Dreifuss muscular dystrophy
p.Gly334= Single submitter Emery-Dreifuss muscular dystrophy
p.Gly474= Single submitter Emery-Dreifuss muscular dystrophy
p.Gly578= Single submitter Emery-Dreifuss muscular dystrophy
p.Gly599= Single submitter Emery-Dreifuss muscular dystrophy
p.Gly650= Single submitter Emery-Dreifuss muscular dystrophy
p.His242= Single submitter Emery-Dreifuss muscular dystrophy
p.His495= Single submitter Emery-Dreifuss muscular dystrophy
p.His678= Single submitter Emery-Dreifuss muscular dystrophy
p.Ile446= Single submitter Emery-Dreifuss muscular dystrophy
p.Ile531= Single submitter Emery-Dreifuss muscular dystrophy
p.Ile559= Single submitter Emery-Dreifuss muscular dystrophy
p.Ile648Val Single submitter
p.Leu210= Single submitter Emery-Dreifuss muscular dystrophy
p.Leu305= Single submitter Emery-Dreifuss muscular dystrophy
p.Leu308= Single submitter Emery-Dreifuss muscular dystrophy
p.Leu331= Single submitter Emery-Dreifuss muscular dystrophy
p.Leu332= Single submitter Emery-Dreifuss muscular dystrophy
p.Leu391= Single submitter Emery-Dreifuss muscular dystrophy
p.Leu411Val Single submitter Emery-Dreifuss muscular dystrophy
p.Leu425= Single submitter Emery-Dreifuss muscular dystrophy
p.Leu430= Single submitter Emery-Dreifuss muscular dystrophy
p.Leu485= Single submitter Emery-Dreifuss muscular dystrophy
p.Leu493= Single submitter Emery-Dreifuss muscular dystrophy
p.Leu511= Single submitter Emery-Dreifuss muscular dystrophy
p.Leu692= Single submitter Emery-Dreifuss muscular dystrophy
p.Lys211= Single submitter Emery-Dreifuss muscular dystrophy
p.Phe201= Single submitter Emery-Dreifuss muscular dystrophy
p.Phe464= Single submitter Emery-Dreifuss muscular dystrophy
p.Phe610= Single submitter Emery-Dreifuss muscular dystrophy
p.Pro235= Single submitter Emery-Dreifuss muscular dystrophy
p.Pro257= Single submitter Emery-Dreifuss muscular dystrophy
p.Pro458= Single submitter Emery-Dreifuss muscular dystrophy
p.Pro55= Single submitter Emery-Dreifuss muscular dystrophy
p.Pro61= Single submitter Emery-Dreifuss muscular dystrophy
p.Pro701= Single submitter Emery-Dreifuss muscular dystrophy
p.Pro715= Single submitter Emery-Dreifuss muscular dystrophy
p.Pro81= Single submitter Emery-Dreifuss muscular dystrophy
p.Ser116= Single submitter Emery-Dreifuss muscular dystrophy
p.Ser132= Single submitter Emery-Dreifuss muscular dystrophy
p.Ser135= Single submitter Emery-Dreifuss muscular dystrophy
p.Ser150= Single submitter Emery-Dreifuss muscular dystrophy
p.Ser153= Single submitter Emery-Dreifuss muscular dystrophy
p.Ser172= Single submitter Emery-Dreifuss muscular dystrophy
p.Ser19= Single submitter Emery-Dreifuss muscular dystrophy
p.Ser208= Single submitter Emery-Dreifuss muscular dystrophy
p.Ser22= Single submitter Emery-Dreifuss muscular dystrophy
p.Ser247= Single submitter Emery-Dreifuss muscular dystrophy
p.Ser26= Single submitter Emery-Dreifuss muscular dystrophy
p.Ser267= Single submitter Emery-Dreifuss muscular dystrophy
p.Ser295= Single submitter Emery-Dreifuss muscular dystrophy
p.Ser384= Single submitter Emery-Dreifuss muscular dystrophy
p.Ser406= Single submitter Emery-Dreifuss muscular dystrophy
p.Ser433= Single submitter Emery-Dreifuss muscular dystrophy
p.Ser503= Single submitter Emery-Dreifuss muscular dystrophy
p.Ser557= Single submitter Emery-Dreifuss muscular dystrophy
p.Ser640= Single submitter Emery-Dreifuss muscular dystrophy
p.Ser84= Single submitter Emery-Dreifuss muscular dystrophy
p.Ser84Asn Single submitter
p.Ser85= Single submitter Emery-Dreifuss muscular dystrophy
p.Thr107= Single submitter Emery-Dreifuss muscular dystrophy
p.Thr187= Single submitter Emery-Dreifuss muscular dystrophy
p.Thr212= Single submitter Emery-Dreifuss muscular dystrophy
p.Thr212Met Single submitter Emery-Dreifuss muscular dystrophy
p.Thr224= Single submitter Emery-Dreifuss muscular dystrophy
p.Thr227= Single submitter Emery-Dreifuss muscular dystrophy
p.Thr42= Single submitter Emery-Dreifuss muscular dystrophy
p.Thr514= Single submitter Emery-Dreifuss muscular dystrophy
p.Thr514Met Single submitter Emery-Dreifuss muscular dystrophy
p.Thr571= Single submitter
p.Thr676= Single submitter Emery-Dreifuss muscular dystrophy
p.Thr686= Single submitter Emery-Dreifuss muscular dystrophy
p.Tyr189= Single submitter Emery-Dreifuss muscular dystrophy
p.Val119= Single submitter Emery-Dreifuss muscular dystrophy
p.Val276= Single submitter Emery-Dreifuss muscular dystrophy
p.Val408Met Single submitter
p.Val453= Single submitter Emery-Dreifuss muscular dystrophy

Uncertain significance 297

p.Ala158Thr Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Ala251Val Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Ala330Pro Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Ala380Asp Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Ala508Val Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Ala56Val Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg100Gln Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg102Gln Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg102Trp Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg104Lys Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg121His Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg154Trp Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg161Gln Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg175Gln Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg190Leu Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg206Ser Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg279Trp Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg285Gln Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg304Gln Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg304Trp Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg307Cys Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg311Gln Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg338His Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg339Leu Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg379Trp Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg3Gln Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg450Gln Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg450Trp Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg467Gln Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg467Gly Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg52Cys Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg538Cys Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg538His Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg589Gln Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg614Cys Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg693Trp Multiple submitters Emery-Dreifuss muscular dystrophy
p.Arg7Cys Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Arg83Gly Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Asp372Gly Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Asp37Asn Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Asp595Glu Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Asp668Asn Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Gln58Lys Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Glu437Ala Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Glu489Asp Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Glu702Lys Multiple submitters Emery-Dreifuss muscular dystrophy
p.Glu714Lys Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Glu77Asp Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Glu77Lys Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Gly14Val Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Gly174Val Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Ile521Thr Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Leu465His Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Met398Ile Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Pro458Leu Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Pro61Leu Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Pro673Thr Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Ser144Leu Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Ser150Thr Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Ser151Cys Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Ser25Asn Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Ser267Leu Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Ser503Leu Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Ser73Leu Multiple submitters Emery-Dreifuss muscular dystrophy
p.Ser78Phe Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Thr171Ile Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Thr224Met Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Thr666Ile Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Thr9Met Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Tyr11His Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Val202Ile Multiple submitters Emery-Dreifuss muscular dystrophy ⚠
p.Val612Met Multiple submitters Emery-Dreifuss muscular dystrophy
c.1146+3C>A Single submitter Emery-Dreifuss muscular dystrophy
c.1190+4C>A Single submitter Emery-Dreifuss muscular dystrophy
c.1190+6G>A Single submitter Emery-Dreifuss muscular dystrophy
c.1191-3C>T Single submitter Emery-Dreifuss muscular dystrophy
c.1579-16G>A Single submitter Emery-Dreifuss muscular dystrophy
c.1663+4C>G Single submitter Emery-Dreifuss muscular dystrophy
c.1663+4C>T Single submitter Emery-Dreifuss muscular dystrophy
c.1663+5G>A Single submitter Emery-Dreifuss muscular dystrophy
c.2040+19_2040+21delinsGCGTACCTGGGCAGATGCAGGTACGGGAT Single submitter Emery-Dreifuss muscular dystrophy
c.2040+4C>T Single submitter Emery-Dreifuss muscular dystrophy
c.2040+5G>A Single submitter Emery-Dreifuss muscular dystrophy
c.286+3G>C Single submitter Emery-Dreifuss muscular dystrophy
c.424+6C>T Single submitter Emery-Dreifuss muscular dystrophy
c.425-3C>A Single submitter Emery-Dreifuss muscular dystrophy
c.425-3C>T Single submitter Emery-Dreifuss muscular dystrophy
c.614+3G>A Single submitter Emery-Dreifuss muscular dystrophy
c.615-2A>G Single submitter Emery-Dreifuss muscular dystrophy
c.813+5G>A Single submitter Emery-Dreifuss muscular dystrophy
p.Ala184Ser Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ala195Pro Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ala230Pro Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ala230Val Single submitter ⚠
p.Ala251Gly Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ala289Asp Single submitter ⚠
p.Ala292Thr Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ala330Val Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ala353Gly Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ala353Thr Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ala361Ser Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ala364Pro Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ala436Val Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ala466Thr Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ala504Pro Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ala535Pro Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ala550fs Single submitter Emery-Dreifuss muscular dystrophy
p.Ala550Thr Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ala56Pro Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ala603Thr Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ala611Thr Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ala623Ser Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ala632Pro Single submitter ⚠
p.Ala632Thr Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ala647Thr Single submitter ⚠
p.Ala647Val Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ala681Thr Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ala685fs Single submitter Emery-Dreifuss muscular dystrophy
p.Ala716Asp Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg100Trp Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg103Ser Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg105del Single submitter Emery-Dreifuss muscular dystrophy
p.Arg121Cys Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg190His Single submitter ⚠
p.Arg206Leu Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg264Lys Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg275Cys Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg275His Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg285Trp Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg307His Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg311Trp Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg339Cys Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg348Leu Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg354Cys Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg354His Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg363Lys Single submitter ⚠
p.Arg387His Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg413Gln Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg413Trp Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg472Cys Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg472His Single submitter ⚠
p.Arg486Ter Single submitter Emery-Dreifuss muscular dystrophy
p.Arg505Thr Single submitter ⚠
p.Arg543Cys Single submitter ⚠
p.Arg562Ter Single submitter Emery-Dreifuss muscular dystrophy
p.Arg589Ter Single submitter Emery-Dreifuss muscular dystrophy
p.Arg614His Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg614Ser Single submitter ⚠
p.Arg620His Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg693Gln Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg693Leu Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg708Cys Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg7His Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Arg83Lys Single submitter ⚠
p.Asn94Lys Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Asn94Ser Single submitter ⚠
p.Asp139Asn Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Asp16Asn Single submitter ⚠
p.Asp253Glu Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Asp372Tyr Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Asp451Gly Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Asp542Gly Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Asp652Asn Single submitter ⚠
p.Cys705Ser Single submitter ⚠
p.Gln31Arg Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Gln367Arg Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Gln390Arg Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Gln417His Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Gln422Leu Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Gln516Arg Single submitter ⚠
p.Gln527Glu Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Gln657Arg Single submitter ⚠
p.Gln680Arg Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Gln680Pro Single submitter ⚠
p.Glu125Ala Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Glu273Gln Single submitter ⚠
p.Glu273Lys Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Glu326Lys Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Glu333Gly Single submitter ⚠
p.Glu358Gln Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Glu371del Single submitter Emery-Dreifuss muscular dystrophy
p.Glu385Lys Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Glu424Lys Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Glu438Asp Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Glu454Asp Single submitter ⚠
p.Glu479Gln Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Glu518Gly Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Glu568Lys Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Glu627Gln Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Glu653Lys Single submitter ⚠
p.Glu658Lys Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Glu672Lys Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Glu691Asp Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Glu702Gln Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Glu702Gly Single submitter ⚠
p.Glu72Val Single submitter ⚠
p.Glu97Lys Single submitter ⚠
p.Gly174Arg Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Gly174Asp Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Gly18Asp Single submitter ⚠
p.Gly237Trp Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Gly24Ala Single submitter ⚠
p.Gly260Asp Single submitter ⚠
p.Gly260Ser Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Gly313Arg Single submitter ⚠
p.Gly318Arg Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Gly319Cys Single submitter ⚠
p.Gly420Ser Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Gly469Ala Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Gly470Ala Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Gly474_Gln477delinsGlu Single submitter Emery-Dreifuss muscular dystrophy
p.Gly474Glu Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Gly501Ser Single submitter ⚠
p.Gly545Arg Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Gly578Ser Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Gly609Ala Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Gly671= Single submitter Emery-Dreifuss muscular dystrophy
p.His242Tyr Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.His529Tyr Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.His678Tyr Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.His700Pro Single submitter ⚠
p.His717Asp Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.His717Gln Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.His90Arg Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ile388Val Single submitter ⚠
p.Ile544Val Single submitter ⚠
p.Leu180Pro Single submitter Emery-Dreifuss muscular dystrophy
p.Leu310Pro Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Leu331Pro Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Leu421Val Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Leu43Trp Single submitter ⚠
p.Leu53Pro Single submitter ⚠
p.Leu581Val Single submitter
p.Leu662Ile Single submitter ⚠
p.Leu89Trp Single submitter Emery-Dreifuss muscular dystrophy
p.Lys122Glu Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Lys44del Single submitter Emery-Dreifuss muscular dystrophy
p.Lys631Asn Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Lys664Gln Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Met168Ile Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Met398Arg Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Phe207Leu Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Phe207Ser Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Phe233Ile Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Pro243Leu Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Pro257Leu Single submitter ⚠
p.Pro598Leu Single submitter ⚠
p.Pro635Arg Single submitter ⚠
p.Pro715Ser Single submitter ⚠
p.Pro82His Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ser151Ala Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ser152Arg Single submitter ⚠
p.Ser153Leu Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ser157Asn Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ser172Leu Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ser19_Ser20insGlySer Single submitter Emery-Dreifuss muscular dystrophy
p.Ser19Gly Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ser209Phe Single submitter ⚠
p.Ser22del Single submitter Emery-Dreifuss muscular dystrophy
p.Ser267Pro Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ser26Leu Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ser402Phe Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ser455Phe Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ser47Phe Single submitter ⚠
p.Ser540Gly Single submitter ⚠
p.Ser564Cys Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ser62Cys Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ser641Cys Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Ser85Tyr Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Thr107Arg Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Thr227Ala Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Thr571Met Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Thr683Met Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Thr686Arg Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Thr686Met Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Trp167Cys Single submitter ⚠
p.Trp182Arg Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Trp183Ter Single submitter Emery-Dreifuss muscular dystrophy
p.Trp395Ter Single submitter Emery-Dreifuss muscular dystrophy
p.Trp582Cys Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Trp698Cys Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Trp95Ter Single submitter Emery-Dreifuss muscular dystrophy
p.Tyr181Cys Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Val146Gly Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Val146Met Single submitter ⚠
p.Val159Ala Single submitter ⚠
p.Val159Ile Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Val246Ile Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Val449Leu Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Val473Met Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Val520Ala Single submitter ⚠
p.Val528Ala Single submitter ⚠
p.Val532Met Single submitter ⚠
p.Val558Ile Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Val613Ala Single submitter Emery-Dreifuss muscular dystrophy ⚠
p.Val624Ile Single submitter ⚠
p.Val629Ala Single submitter Emery-Dreifuss muscular dystrophy ⚠