NEB — 11910 ClinVar variants

All ClinVar germline NEB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1934 flagged for review →

524 Pathogenic · 309 Pathogenic/Likely pathogenic · 951 Likely pathogenic · 976 Conflicting · 218 Benign · 131 Benign/Likely benign · 5488 Likely benign · 3313 Uncertain significance

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

⚑ Evidence disagreements 1934

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

Predictors vs ClinVar 2

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

NEB p.Asp498Gly Likely pathogenic Expert panel
nemaline myopathy
NEB p.Gln7493His Pathogenic/Likely pathogenic Multiple submitters
arthrogryposis multiplex congenita 6

Predictors agree, ClinVar conflicts 426

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 426

NEB p.Ala1016Thr Conflicting Single submitter
Inborn genetic diseases
NEB p.Ala1082Val Conflicting Single submitter
nemaline myopathy 2
NEB p.Ala1148Val Conflicting Single submitter
Inborn genetic diseases
NEB p.Ala114Thr Conflicting Single submitter
nemaline myopathy 2
NEB p.Ala1174Thr Conflicting Single submitter
nemaline myopathy 2
NEB p.Ala1322Ser Conflicting Single submitter
nemaline myopathy 2
NEB p.Ala1396Ser Conflicting Single submitter
nemaline myopathy 2
NEB p.Ala1400Thr Conflicting Single submitter
Inborn genetic diseases
NEB p.Ala1579Thr Conflicting Single submitter
Inborn genetic diseases
NEB p.Ala1579Val Conflicting Single submitter
nemaline myopathy 2
NEB p.Ala1583Val Conflicting Single submitter
arthrogryposis multiplex congenita 6
NEB p.Ala1804Glu Conflicting Single submitter
nemaline myopathy 2
NEB p.Ala1804Thr Conflicting Single submitter
nemaline myopathy 2
NEB p.Ala1810Val Conflicting Single submitter
Inborn genetic diseases
NEB p.Ala1881Thr Conflicting Single submitter
Inborn genetic diseases
NEB p.Ala200Thr Conflicting Single submitter
nemaline myopathy 2
NEB p.Ala2059Thr Conflicting Single submitter
nemaline myopathy 2
NEB p.Ala2130Thr Conflicting Single submitter
Inborn genetic diseases
NEB p.Ala2150Val Conflicting Single submitter
Inborn genetic diseases
NEB p.Ala2290Thr Conflicting Single submitter
NEB-related disorder
NEB p.Ala247Thr Conflicting Single submitter
nemaline myopathy 2
NEB p.Ala2681Val Conflicting Single submitter
nemaline myopathy 2
NEB p.Ala2784Thr Conflicting Single submitter
nemaline myopathy 2
NEB p.Ala3267Ser Conflicting Single submitter
nemaline myopathy 2
NEB p.Ala3537Thr Conflicting Single submitter
Inborn genetic diseases
NEB p.Ala396Val Conflicting Single submitter
Inborn genetic diseases
NEB p.Ala5683Val Conflicting Single submitter
nemaline myopathy 2
NEB p.Ala5840Thr Conflicting Single submitter
distal myopathy
NEB p.Ala5840Val Conflicting Single submitter
Inborn genetic diseases
NEB p.Ala5887Thr Conflicting Single submitter
nemaline myopathy 2
NEB p.Ala5980Thr Conflicting Single submitter
Inborn genetic diseases
NEB p.Ala6163Val Conflicting Single submitter
nemaline myopathy 2
NEB p.Ala6231Val Conflicting Single submitter
nemaline myopathy 2
NEB p.Ala6291Thr Conflicting Single submitter
nemaline myopathy 2
NEB p.Ala6338Thr Conflicting Single submitter
nemaline myopathy 2
NEB p.Ala6582Val Conflicting Single submitter
Inborn genetic diseases
NEB p.Ala7133Thr Conflicting Single submitter
nemaline myopathy 2
NEB p.Ala7426Thr Conflicting Single submitter
nemaline myopathy 2
NEB p.Ala7729Thr Conflicting Single submitter
Inborn genetic diseases
NEB p.Ala8174Thr Conflicting Single submitter
nemaline myopathy 2
NEB p.Ala8451Val Conflicting Single submitter
Inborn genetic diseases
NEB p.Ala858Val Conflicting Single submitter
Inborn genetic diseases
NEB p.Ala895Thr Conflicting Single submitter
Inborn genetic diseases
NEB p.Ala941Val Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg123Cys Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg123His Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg138Gln Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg1555Lys Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg1612Cys Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg1612His Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg1835Gln Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg1894Gly Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg2056Gly Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg2161Cys Conflicting Single submitter
arthrogryposis multiplex congenita 6
NEB p.Arg2161His Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg2313Gln Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg2323Gln Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg2437Gly Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg2437Trp Conflicting Single submitter
arthrogryposis multiplex congenita 6
NEB p.Arg2448Cys Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg2448His Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg2516Gln Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg2543Gln Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg2680Gln Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg2812His Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg301Lys Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg3259Gln Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg3515Gln Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg3528His Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg3665Cys Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg3665His Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg3693His Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg3722Gln Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg3895Gly Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg5675His Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg5688Gln Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg5733His Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg5748Gln Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg5882Gln Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg6177Cys Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg6177His Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg6270Gln Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg6287His Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg6411Thr Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg6469Gln Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg6575His Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg6656Cys Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg6678His Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg6711Gln Conflicting Single submitter
arthrogryposis multiplex congenita 6
NEB p.Arg6743His Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg6781His Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg6814His Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg6835Gln Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg6887Gln Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg68Lys Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg6954Lys Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg69Lys Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg7019Cys Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg7019His Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg7114Gln Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg7114Trp Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg7164His Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg7202His Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg7287Gln Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg73Gln Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg7497Gln Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg7684His Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg7714Gln Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg8186His Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg8217His Conflicting Single submitter
arthrogryposis multiplex congenita 6
NEB p.Arg8287Gln Conflicting Single submitter
NEB-related disorder
NEB p.Arg8388His Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg8391Gln Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg974Gln Conflicting Single submitter
Inborn genetic diseases
NEB p.Asn1198Ser Conflicting Single submitter
Inborn genetic diseases
NEB p.Asn1308Ser Conflicting Single submitter
nemaline myopathy 2
NEB p.Asn1428Ser Conflicting Single submitter
nemaline myopathy 2
NEB p.Asn1754Lys Conflicting Single submitter
Inborn genetic diseases
NEB p.Asn2131Ile Conflicting Single submitter
Inborn genetic diseases
NEB p.Asn2134Asp Conflicting Single submitter
nemaline myopathy 2
NEB p.Asn2160Ser Conflicting Single submitter
Inborn genetic diseases
NEB p.Asn2210Ser Conflicting Single submitter
Inborn genetic diseases
NEB p.Asn3248Ser Conflicting Single submitter
nemaline myopathy 2
NEB p.Asn390Lys Conflicting Single submitter
Inborn genetic diseases
NEB p.Asn3967Ser Conflicting Single submitter
Inborn genetic diseases
NEB p.Asn6093Ile Conflicting Single submitter
nemaline myopathy 2
NEB p.Asn6249Ser Conflicting Single submitter
nemaline myopathy 2
NEB p.Asn6290Lys Conflicting Single submitter
nemaline myopathy 2
NEB p.Asn6715Ser Conflicting Single submitter
nemaline myopathy 2
NEB p.Asn700Ser Conflicting Single submitter
nemaline myopathy 2
NEB p.Asn7145Lys Conflicting Single submitter
Inborn genetic diseases
NEB p.Asn7346Ile Conflicting Single submitter
nemaline myopathy 2
NEB p.Asn7760Asp Conflicting Single submitter
Inborn genetic diseases
NEB p.Asn7826Ser Conflicting Single submitter
nemaline myopathy 2
NEB p.Asp1142Val Conflicting Single submitter
nemaline myopathy 2
NEB p.Asp1176Gly Conflicting Single submitter
Inborn genetic diseases
NEB p.Asp1212Asn Conflicting Single submitter
nemaline myopathy 2
NEB p.Asp1212Glu Conflicting Single submitter
nemaline myopathy 2
NEB p.Asp142Glu Conflicting Single submitter
Inborn genetic diseases
NEB p.Asp178Gly Conflicting Single submitter
nemaline myopathy 2
NEB p.Asp1855Glu Conflicting Single submitter
nemaline myopathy 2
NEB p.Asp2083Gly Conflicting Single submitter
Inborn genetic diseases
NEB p.Asp2127Glu Conflicting Single submitter
nemaline myopathy 2
NEB p.Asp214Glu Conflicting Single submitter
nemaline myopathy 2
NEB p.Asp2380Asn Conflicting Single submitter
nemaline myopathy 2
NEB p.Asp2464Asn Conflicting Single submitter
Inborn genetic diseases
NEB p.Asp2487Asn Conflicting Single submitter
nemaline myopathy 2
NEB p.Asp2528Asn Conflicting Single submitter
Inborn genetic diseases
NEB p.Asp2675Gly Conflicting Single submitter
Inborn genetic diseases
NEB p.Asp3257Asn Conflicting Single submitter
nemaline myopathy 2

Predicted LoF vs a conflicting call 3

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

NEB c.22272+2dup Conflicting Single submitter
arthrogryposis multiplex congenita 6
NEB c.22696-1G>A Conflicting Single submitter
nemaline myopathy
NEB c.22905+1del Conflicting Single submitter
nemaline myopathy

Predictors lean, ClinVar uncertain 1333

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 1333

NEB p.Ala1075Val Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Ala1335Thr Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Ala1579Asp Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Ala1807Ser Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Ala1823Ser Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Ala1906Val Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Ala251Pro Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Ala2541Thr Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Ala2808Ser Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Ala3375Thr Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Ala3411Thr Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Ala3553Ser Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Ala3687Val Uncertain significance Multiple submitters
nemaline myopathy
NEB p.Ala3861Ser Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Ala5683Thr Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Ala579Ser Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Ala6408Val Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Ala6910Ser Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Ala7729Val Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Ala8271Val Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Ala8414Thr Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Ala8482Gly Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Arg1124Gln Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Arg1812Gly Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Arg2566Gln Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Arg3207Cys Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Arg3207His Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Arg3295Gln Uncertain significance Multiple submitters
arthrogryposis multiplex congenita 6
NEB p.Arg3373Gln Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Arg3392Lys Uncertain significance Multiple submitters
NEB p.Arg3420Cys Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Arg3420His Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Arg3450His Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Arg3538Leu Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Arg3571Lys Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Arg3652Lys Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Arg3745Cys Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Arg3745His Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Arg3745Leu Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Arg3781Gln Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Arg4083His Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Arg5675Gly Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Arg5733Cys Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Arg5733Leu Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Arg6656His Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Arg6819Gln Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Arg7026Gln Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Arg7373Trp Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Arg7723Lys Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Arg8263Gln Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Arg8280Lys Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Arg8389Gln Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Arg880Cys Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Arg880His Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Arg974Leu Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asn1376Ser Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asn1686Asp Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asn1686Ser Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Asn2474Ser Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asn3382Lys Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asn355Asp Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asn5743Ser Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asn7245Ser Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asn7558Tyr Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asn8328Ser Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asp1221Gly Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Asp2165Asn Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asp2240Gly Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asp2621Asn Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asp2829Asn Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asp3381Asn Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asp3457Asn Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Asp3542His Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Asp3620Glu Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Asp3836Asn Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asp3851Gly Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Asp3910Glu Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asp4Glu Uncertain significance Multiple submitters
NEB p.Asp594Asn Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asp671Glu Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asp671His Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asp6922Val Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asp712Glu Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Asp712Val Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Asp7617Gly Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asp7879Glu Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asp847Gly Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Asp8483His Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asp8483Tyr Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asp945Asn Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Cys4034Ser Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Gln1718Leu Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Gln1923Glu Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Gln2227Glu Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Gln2387Arg Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Gln3609Glu Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Gln515His Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Gln5759His Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Gln8267Glu Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Gln877Arg Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Glu1702Lys Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Glu1886Lys Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Glu2791Ala Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Glu2796Gly Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Glu329Lys Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Glu3359Lys Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Glu3697Asp Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Glu3845Gln Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Glu4027Gly Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Glu5680Lys Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Glu6372Lys Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Glu6904Gln Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Glu970Val Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Gly1220Ser Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Gly1489Val Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Gly2311Ser Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Gly3283Ser Uncertain significance Multiple submitters
NEB p.Gly7505Ser Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Gly7866Arg Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.His1411Gln Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.His149Arg Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.His2139Asp Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.His2235Pro Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.His3371Arg Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.His4087Arg Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.His445Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.His538Arg Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.His6438Arg Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.His6621Tyr Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.His6670Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.His6673Pro Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.His6919Tyr Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.His7232Tyr Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.His7258Arg Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.His7471Tyr Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.His785Arg Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Ile1291Val Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Ile1304Val Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Ile2806Val Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Ile2932Val Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Ile3394Thr Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Ile3535Phe Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Ile3968Val Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Ile4036Val Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Ile4080Thr Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Ile6041Phe Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Ile6065Thr Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Ile609Thr Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Ile6310Val Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Ile6951Val Uncertain significance Multiple submitters
nemaline myopathy 2

Predictors split 170

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 170

NEB p.Thr7382Pro Pathogenic Expert panel
nemaline myopathy
NEB p.Ala1070Val Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Ala236Pro Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Arg6469Pro Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Arg6575Leu Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asn1008Asp Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Asp3Gly Uncertain significance Multiple submitters
nemaline myopathy
NEB p.Asp5781His Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Gln1982Pro Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Gln3664His Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Glu7963Asp Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Gly610Arg Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Gly610Glu Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Gly6697Arg Benign/Likely benign Multiple submitters
nemaline myopathy 2
NEB p.Ile4067Thr Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Ile5650Thr Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Ile6181Phe Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Leu2295Pro Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Lys4103Asn Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Met3335Ile Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Phe2211Leu Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Pro2208Ser Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Ser593Gly Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Ser6718Arg Uncertain significance Multiple submitters
NEB p.Ser769Asn Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Trp2175Arg Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Trp5734Arg Uncertain significance Multiple submitters
Inborn genetic diseases
NEB p.Tyr13His Uncertain significance Multiple submitters
nemaline myopathy 2
NEB p.Ala1010Pro Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Ala1075Asp Likely benign Single submitter
nemaline myopathy 2
NEB p.Ala1707Glu Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Ala1807Pro Conflicting Single submitter
Inborn genetic diseases
NEB p.Ala3780Asp Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Ala3961Val Uncertain significance Single submitter
NEB p.Ala7236Pro Likely benign Single submitter
nemaline myopathy 2
NEB p.Ala7449Ser Likely benign Single submitter
nemaline myopathy 2
NEB p.Ala7528Pro Uncertain significance Single submitter
Inborn genetic diseases
NEB p.Arg1612Ser Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Arg1650Ser Uncertain significance Single submitter
Inborn genetic diseases
NEB p.Arg1812Ser Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Arg2587Ser Uncertain significance Single submitter
Inborn genetic diseases
NEB p.Arg2906Ser Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg301Ser Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg5593Thr Uncertain significance Single submitter
Inborn genetic diseases
NEB p.Arg5688Leu Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Arg5863Thr Uncertain significance Single submitter
NEB p.Arg5908Ser Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Arg633Ser Conflicting Single submitter
nemaline myopathy 2
NEB p.Arg7287Gly Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg8152Gln Uncertain significance Single submitter
NEB p.Arg8343Gln Conflicting Single submitter
Inborn genetic diseases
NEB p.Arg8355Leu Uncertain significance Single submitter
NEB p.Arg8472His Conflicting Single submitter
nemaline myopathy 2
NEB p.Asn1046Asp Conflicting Single submitter
Inborn genetic diseases
NEB p.Asn1948Ile Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Asn6191Lys Uncertain significance Single submitter
NEB p.Asn7650Lys Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Asn7846Thr Uncertain significance Single submitter
NEB p.Asn8360Lys Conflicting Single submitter
nemaline myopathy 2
NEB p.Asp1313Gly Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Asp261His Conflicting Single submitter
NEB p.Asp3986Glu Uncertain significance Single submitter
NEB p.Asp5706Glu Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Asp5911Glu Likely benign Single submitter
nemaline myopathy 2
NEB p.Asp6986His Conflicting Single submitter
nemaline myopathy 2
NEB p.Asp7678Glu Benign Single submitter
nemaline myopathy 2
NEB p.Asp8347His Likely benign Single submitter
nemaline myopathy 2
NEB p.Gln8333His Uncertain significance Single submitter
NEB-related disorder
NEB p.Gln986Pro Uncertain significance Single submitter
NEB p.Glu16Gly Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Glu16Val Conflicting Single submitter
nemaline myopathy 2
NEB p.Glu2588Asp Uncertain significance Single submitter
NEB p.Glu2831Asp Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Glu7681Gly Uncertain significance Single submitter
NEB p.Glu7717Gln Conflicting Single submitter
nemaline myopathy 2
NEB p.Glu7719Lys Uncertain significance Single submitter
Inborn genetic diseases
NEB p.Gly340Asp Likely benign Single submitter
nemaline myopathy 2
NEB p.Gly3823Arg Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Gly6556Ala Uncertain significance Single submitter
NEB p.Gly683Asp Likely benign Single submitter
nemaline myopathy 2
NEB p.Gly8512Ser Conflicting Single submitter
Inborn genetic diseases
NEB p.Gly857Arg Uncertain significance Single submitter
nemaline myopathy 2
NEB p.His2318Asp Uncertain significance Single submitter
Inborn genetic diseases
NEB p.His2318Gln Uncertain significance Single submitter
nemaline myopathy 2
NEB p.His3533Gln Uncertain significance Single submitter
nemaline myopathy 2
NEB p.His5835Asp Conflicting Single submitter
nemaline myopathy 2
NEB p.Ile1291Lys Uncertain significance Single submitter
Inborn genetic diseases
NEB p.Ile323Asn Likely benign Single submitter
nemaline myopathy 2
NEB p.Ile575Thr Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Ile7683Thr Conflicting Single submitter
Inborn genetic diseases
NEB p.Leu1034Pro Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Leu132Phe Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Leu1711Pro Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Leu4069Pro Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Leu5876Pro Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Leu657Pro Uncertain significance Single submitter
NEB p.Leu6640Pro Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Leu758Pro Uncertain significance Single submitter
NEB p.Lys102Asn Likely benign Single submitter
nemaline myopathy 2
NEB p.Lys1306Asn Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Lys5973Asn Conflicting Single submitter
Inborn genetic diseases
NEB p.Lys7319Thr Likely benign Single submitter
nemaline myopathy 2
NEB p.Lys7447Asn Conflicting Single submitter
nemaline myopathy 2
NEB p.Lys7448Glu Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Lys774Asn Uncertain significance Single submitter
Inborn genetic diseases
NEB p.Lys781Asn Uncertain significance Single submitter
Inborn genetic diseases
NEB p.Lys7848Asn Uncertain significance Single submitter
NEB p.Met4064Ile Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Met7416Ile Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Met7475Thr Likely benign Single submitter
nemaline myopathy 2
NEB p.Phe1525Leu Likely benign Single submitter
nemaline myopathy 2
NEB p.Phe1725Ser Conflicting Single submitter
nemaline myopathy 2
NEB p.Phe316Leu Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Phe4051Leu Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Phe407Leu Likely benign Single submitter
nemaline myopathy 2
NEB p.Phe471Leu Likely benign Single submitter
nemaline myopathy 2
NEB p.Phe6101Ser Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Phe6216Leu Conflicting Single submitter
Inborn genetic diseases
NEB p.Phe6684Leu Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Phe7153Val Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Phe7500Leu Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Phe7943Leu Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Phe8324Leu Likely benign Single submitter
nemaline myopathy 2
NEB p.Pro509Ser Likely benign Single submitter
nemaline myopathy 2
NEB p.Pro5693Leu Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Pro8179Ala Uncertain significance Single submitter
Inborn genetic diseases
NEB p.Pro8277Ala Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Ser2342Thr Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Ser2443Ile Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Ser2863Asn Uncertain significance Single submitter
Inborn genetic diseases
NEB p.Ser3240Thr Likely benign Single submitter
nemaline myopathy 2
NEB p.Ser3592Asn Uncertain significance Single submitter
NEB p.Ser3963Arg Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Ser5670Gly Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Ser6457Arg Conflicting Single submitter
nemaline myopathy 2
NEB p.Ser6682Gly Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Ser8162Pro Uncertain significance Single submitter
Inborn genetic diseases
NEB p.Ser8192Gly Conflicting Single submitter
nemaline myopathy 2
NEB p.Ser8403Arg Uncertain significance Single submitter
Inborn genetic diseases
NEB p.Ser89Asn Uncertain significance Single submitter
NEB p.Thr3570Ile Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Thr5725Ile Conflicting Single submitter
nemaline myopathy 2
NEB p.Thr7450Ile Likely benign Single submitter
nemaline myopathy 2
NEB p.Thr8276Ser Likely benign Single submitter
nemaline myopathy 2
NEB p.Trp2576Arg Uncertain significance Single submitter
Inborn genetic diseases
NEB p.Trp2839Arg Uncertain significance Single submitter
nemaline myopathy 2
NEB p.Trp3390Cys Uncertain significance Single submitter
NEB p.Tyr2172Ser Conflicting Single submitter
nemaline myopathy 2
NEB p.Tyr2176Asp Conflicting Single submitter
Inborn genetic diseases
NEB p.Tyr479His Uncertain significance Single submitter
nemaline myopathy 2

All NEB variants

Pathogenic 524

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

c.78+1G>A Expert panel nemaline myopathy
p.Arg2313Ter Expert panel nemaline myopathy
p.Ser6366Ile Expert panel nemaline myopathy
p.Ser6648= Expert panel nemaline myopathy
p.Thr7382Pro Expert panel nemaline myopathy ⚠
c.10872+1G>A Multiple submitters nemaline myopathy 2
c.12639+1G>A Multiple submitters nemaline myopathy 2
c.21313-666A>G Multiple submitters nemaline myopathy
c.23742+164A>G Multiple submitters nemaline myopathy
c.3255+1G>A Multiple submitters arthrogryposis multiplex congenita 6
p.Arg138Ter Multiple submitters nemaline myopathy 2
p.Arg1473Ter Multiple submitters nemaline myopathy 2
p.Arg4474Ter Multiple submitters nemaline myopathy 2
p.Arg5745Ter Multiple submitters nemaline myopathy 2
p.Arg6063Ter Multiple submitters nemaline myopathy 2
p.Arg6270Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Arg7611Ter Multiple submitters nemaline myopathy
p.Arg7714Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Arg7935fs Multiple submitters nemaline myopathy 2
p.Arg8245fs Multiple submitters arthrogryposis multiplex congenita 6
p.Arg8330Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Arg8377Ter Multiple submitters nemaline myopathy
p.Arg8446Ter Multiple submitters NEB-related disorder
p.Asn1158fs Multiple submitters nemaline myopathy
p.Asn8221_Phe8222insTer Multiple submitters Inborn genetic diseases
p.Asp542fs Multiple submitters nemaline myopathy
p.Gln59Ter Multiple submitters nemaline myopathy 2
p.Gln6226Ter Multiple submitters nemaline myopathy 2
p.His8062fs Multiple submitters nemaline myopathy 2
p.Leu8071Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Leu8379Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Lys8228fs Multiple submitters nemaline myopathy 2
p.Pro8176fs Multiple submitters arthrogryposis multiplex congenita 6
p.Thr6949fs Multiple submitters NEB-related disorder
p.Trp4332Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Trp6551Ter Multiple submitters nemaline myopathy 2
p.Tyr1028Ter Multiple submitters nemaline myopathy 2
p.Tyr1858Ter Multiple submitters nemaline myopathy
p.Tyr5848fs Multiple submitters nemaline myopathy
p.Tyr689fs Multiple submitters nemaline myopathy 2
p.Tyr8196Ter Multiple submitters nemaline myopathy 2
p.Val6288fs Multiple submitters nemaline myopathy 2
p.Val8091fs Multiple submitters nemaline myopathy 2
c.10872+1del Single submitter nemaline myopathy 2
c.10872+1G>T Single submitter nemaline myopathy
c.10872+2T>A Single submitter nemaline myopathy 2
c.11289+1G>A Single submitter arthrogryposis multiplex congenita 6
c.1152+1G>C Single submitter nemaline myopathy 2
c.13788+1G>C Single submitter nemaline myopathy 2
c.1471-1G>A Single submitter nemaline myopathy 2
c.1674+1G>T Single submitter nemaline myopathy 2
c.1674+2T>G Single submitter nemaline myopathy 2
c.16909-1G>A Single submitter nemaline myopathy 2
c.17737-2A>T Single submitter arthrogryposis multiplex congenita 6
c.17845-1G>C Single submitter nemaline myopathy 2
c.18579+1G>A Single submitter nemaline myopathy
c.18696_18697insSVAelement Single submitter nemaline myopathy 2
c.20157+2T>A Single submitter nemaline myopathy 2
c.20466+2T>A Single submitter nemaline myopathy 2
c.20467-2A>C Single submitter nemaline myopathy 2
c.21103delG Single submitter nemaline myopathy 2
c.21628_21630+2del Single submitter nemaline myopathy 2
c.22161+1_22161+9del Single submitter nemaline myopathy
c.22378del Single submitter nemaline myopathy
c.24672+1del Single submitter nemaline myopathy 2
c.3987+1G>T Single submitter nemaline myopathy
c.3987+2T>G Single submitter nemaline myopathy
c.508-7T>A Single submitter nemaline myopathy
c.6075+1G>A Single submitter nemaline myopathy 2
c.6076-2A>G Single submitter nemaline myopathy 2
c.6184-2A>G Single submitter
c.6496-1G>A Single submitter arthrogryposis multiplex congenita 6
c.79-1G>A Single submitter nemaline myopathy 2
c.7956+1G>A Single submitter nemaline myopathy 2
c.8160+1G>A Single submitter nemaline myopathy
c.8890-2A>G Single submitter arthrogryposis multiplex congenita 6
c.9619-1G>A Single submitter nemaline myopathy 2
p.Ala1222fs Single submitter nemaline myopathy 2
p.Ala1549fs Single submitter nemaline myopathy 2
p.Ala154fs Single submitter nemaline myopathy 2
p.Ala2225fs Single submitter nemaline myopathy 2
p.Ala2296fs Single submitter nemaline myopathy 2
p.Ala2538fs Single submitter nemaline myopathy 2
p.Ala2824fs Single submitter Inborn genetic diseases
p.Ala2954fs Single submitter nemaline myopathy 2
p.Ala366fs Single submitter nemaline myopathy 2
p.Ala396fs Single submitter nemaline myopathy 2
p.Ala4184_Trp4185insTer Single submitter nemaline myopathy 2
p.Ala4462fs Single submitter nemaline myopathy 2
p.Ala5699fs Single submitter nemaline myopathy 2
p.Ala5953fs Single submitter nemaline myopathy 2
p.Ala6571fs Single submitter nemaline myopathy 2
p.Ala6639fs Single submitter nemaline myopathy 2
p.Ala7130fs Single submitter nemaline myopathy
p.Ala7419fs Single submitter nemaline myopathy 2
p.Ala8174fs Single submitter nemaline myopathy 2
p.Arg138fs Single submitter nemaline myopathy 2
p.Arg2809fs Single submitter nemaline myopathy 2
p.Arg3073fs Single submitter nemaline myopathy 2
p.Arg4146fs Single submitter nemaline myopathy 2
p.Arg4231fs Single submitter nemaline myopathy 2
p.Arg4378Ter Single submitter nemaline myopathy 2
p.Arg4531fs Single submitter nemaline myopathy 2
p.Arg4588fs Single submitter nemaline myopathy 2
p.Arg5701fs Single submitter nemaline myopathy 2
p.Arg6814fs Single submitter nemaline myopathy 2
p.Arg6816fs Single submitter nemaline myopathy 2
p.Arg7126fs Single submitter nemaline myopathy 2
p.Arg7265fs Single submitter nemaline myopathy 2
p.Arg8028fs Single submitter nemaline myopathy 2
p.Arg8090fs Single submitter nemaline myopathy
p.Arg8183fs Single submitter nemaline myopathy 2
p.Arg8389fs Single submitter nemaline myopathy 2
p.Arg974fs Single submitter nemaline myopathy 2
p.Asn1496Ter Single submitter nemaline myopathy 2
p.Asn1534fs Single submitter
p.Asn3200fs Single submitter nemaline myopathy 2
p.Asn3478fs Single submitter nemaline myopathy 2
p.Asn3685fs Single submitter nemaline myopathy 2
p.Asn4134fs Single submitter nemaline myopathy 2
p.Asn4186fs Single submitter nemaline myopathy 2
p.Asn4381fs Single submitter nemaline myopathy 2
p.Asn4384_Leu4385insTer Single submitter nemaline myopathy 2
p.Asn555delinsLeuTer Single submitter nemaline myopathy 2
p.Asn559fs Single submitter nemaline myopathy 2
p.Asn7726fs Single submitter nemaline myopathy 2
p.Asn7982fs Single submitter nemaline myopathy 2
p.Asn8013fs Single submitter nemaline myopathy 2
p.Asp1033fs Single submitter nemaline myopathy 2
p.Asp1386fs Single submitter nemaline myopathy 2
p.Asp3820fs Single submitter nemaline myopathy 2
p.Asp4094fs Single submitter nemaline myopathy 2
p.Asp4580fs Single submitter nemaline myopathy 2
p.Asp523fs Single submitter nemaline myopathy 2
p.Asp5728fs Single submitter nemaline myopathy 2
p.Asp578fs Single submitter nemaline myopathy 2
p.Asp5862fs Single submitter nemaline myopathy 2
p.Asp6635fs Single submitter nemaline myopathy 2
p.Asp6878fs Single submitter nemaline myopathy 2
p.Asp7018fs Single submitter nemaline myopathy 2
p.Asp7445fs Single submitter nemaline myopathy 2
p.Asp7836fs Single submitter nemaline myopathy 2
p.Asp8323fs Single submitter nemaline myopathy 2
p.Cys4509fs Single submitter nemaline myopathy 2
p.Cys5791Ter Single submitter nemaline myopathy 2
p.Gln1009Ter Single submitter nemaline myopathy 2
p.Gln111Ter Single submitter nemaline myopathy 2
p.Gln1185Ter Single submitter nemaline myopathy 2
p.Gln1187_Ser1188insTer Single submitter nemaline myopathy 2
p.Gln165Ter Single submitter nemaline myopathy 2
p.Gln1675Ter Single submitter nemaline myopathy 2
p.Gln1923fs Single submitter
p.Gln234Ter Single submitter nemaline myopathy 2
p.Gln2407Ter Single submitter nemaline myopathy 2
p.Gln249Ter Single submitter nemaline myopathy 2
p.Gln2801fs Single submitter nemaline myopathy 2
p.Gln313Ter Single submitter nemaline myopathy 2
p.Gln3178Ter Single submitter nemaline myopathy 2
p.Gln3680Ter Single submitter nemaline myopathy
p.Gln371fs Single submitter nemaline myopathy 2
p.Gln371Ter Single submitter nemaline myopathy 2
p.Gln3911Ter Single submitter nemaline myopathy 2
p.Gln3970Ter Single submitter nemaline myopathy 2
p.Gln4175Ter Single submitter nemaline myopathy 2
p.Gln4225Ter Single submitter nemaline myopathy 2
p.Gln4331Ter Single submitter nemaline myopathy 2
p.Gln4383fs Single submitter nemaline myopathy 2
p.Gln4418fs Single submitter nemaline myopathy 2
p.Gln4453Ter Single submitter nemaline myopathy 2
p.Gln4461Ter Single submitter nemaline myopathy 2
p.Gln4481Ter Single submitter nemaline myopathy 2
p.Gln4502Ter Single submitter nemaline myopathy 2
p.Gln4581Ter Single submitter nemaline myopathy 2
p.Gln473Ter Single submitter nemaline myopathy 2
p.Gln487Ter Single submitter nemaline myopathy 2
p.Gln520Ter Single submitter nemaline myopathy 2
p.Gln5742Ter Single submitter nemaline myopathy 2
p.Gln5808fs Single submitter nemaline myopathy 2
p.Gln5912fs Single submitter nemaline myopathy 2
p.Gln5982Ter Single submitter nemaline myopathy 2
p.Gln6042Ter Single submitter nemaline myopathy 2
p.Gln6120Ter Single submitter nemaline myopathy 2
p.Gln6319Ter Single submitter nemaline myopathy 2
p.Gln6646Ter Single submitter nemaline myopathy 2
p.Gln6776fs Single submitter nemaline myopathy 2
p.Gln6892fs Single submitter nemaline myopathy 2
p.Gln7100fs Single submitter nemaline myopathy 2
p.Gln7451Ter Single submitter nemaline myopathy 2
p.Gln7493Ter Single submitter nemaline myopathy 2
p.Gln7598Ter Single submitter nemaline myopathy 2
p.Gln7774Ter Single submitter nemaline myopathy 2
p.Gln7819Ter Single submitter nemaline myopathy
p.Gln7821Ter Single submitter nemaline myopathy 2
p.Gln7940fs Single submitter nemaline myopathy 2
p.Gln810Ter Single submitter nemaline myopathy 2
p.Gln8126fs Single submitter nemaline myopathy 2
p.Gln8126Ter Single submitter nemaline myopathy 2
p.Gln8157Ter Single submitter nemaline myopathy 2
p.Gln8333fs Single submitter nemaline myopathy 2
p.Gln8385Ter Single submitter nemaline myopathy 2
p.Glu1125Ter Single submitter nemaline myopathy 2
p.Glu1456Ter Single submitter arthrogryposis multiplex congenita 6
p.Glu1642fs Single submitter nemaline myopathy 2
p.Glu1863Ter Single submitter nemaline myopathy 2
p.Glu22fs Single submitter nemaline myopathy 2
p.Glu2796fs Single submitter nemaline myopathy 2
p.Glu3169Ter Single submitter
p.Glu3471Ter Single submitter nemaline myopathy 2
p.Glu3803fs Single submitter nemaline myopathy 2
p.Glu3809Ter Single submitter nemaline myopathy 2
p.Glu3845Ter Single submitter nemaline myopathy 2
p.Glu3889fs Single submitter nemaline myopathy 2
p.Glu4050Ter Single submitter nemaline myopathy
p.Glu4088Ter Single submitter
p.Glu4132Ter Single submitter nemaline myopathy 2
p.Glu4145Ter Single submitter nemaline myopathy 2
p.Glu4153Ter Single submitter nemaline myopathy 2
p.Glu4200fs Single submitter nemaline myopathy 2
p.Glu4245Ter Single submitter nemaline myopathy 2
p.Glu4289fs Single submitter nemaline myopathy 2
p.Glu4361Ter Single submitter nemaline myopathy 2
p.Glu4371fs Single submitter nemaline myopathy 2
p.Glu4375Ter Single submitter nemaline myopathy 2
p.Glu4396Ter Single submitter nemaline myopathy 2
p.Glu4429Ter Single submitter nemaline myopathy 2
p.Glu4431fs Single submitter nemaline myopathy 2
p.Glu5261Ter Single submitter
p.Glu5853fs Single submitter
p.Glu640_Lys641delinsAspTer Single submitter nemaline myopathy 2
p.Glu6846Ter Single submitter nemaline myopathy 2
p.Glu7077_Arg7078insAlaGlyArgGlyGlySerArgLeuTer Single submitter nemaline myopathy 2
p.Glu7549Ter Single submitter nemaline myopathy 2
p.Glu7605fs Single submitter nemaline myopathy 2
p.Glu7605Ter Single submitter nemaline myopathy 2
p.Glu7610Ter Single submitter nemaline myopathy 2
p.Glu7644fs Single submitter nemaline myopathy 2
p.Glu8096fs Single submitter nemaline myopathy 2
p.Gly1551fs Single submitter nemaline myopathy 2
p.Gly245fs Single submitter nemaline myopathy 2
p.Gly2666fs Single submitter nemaline myopathy 2
p.Gly287fs Single submitter nemaline myopathy 2
p.Gly3498_Tyr3499insTer Single submitter nemaline myopathy 2
p.Gly3498fs Single submitter nemaline myopathy 2
p.Gly4124_Trp4125insTer Single submitter nemaline myopathy 2
p.Gly4261fs Single submitter nemaline myopathy 2
p.Gly4470fs Single submitter nemaline myopathy 2
p.Gly4504fs Single submitter nemaline myopathy 2
p.Gly7292_Cys7293insTer Single submitter nemaline myopathy 2
p.Gly7292fs Single submitter nemaline myopathy 2
p.Gly7577fs Single submitter nemaline myopathy 2
p.Gly8048fs Single submitter nemaline myopathy 2
p.Gly8404fs Single submitter nemaline myopathy 2
p.His1357fs Single submitter nemaline myopathy 2
p.His149fs Single submitter nemaline myopathy 2
p.His3533fs Single submitter nemaline myopathy 2
p.His445fs Single submitter nemaline myopathy 2
p.His6428fs Single submitter nemaline myopathy 2
p.His6907fs Single submitter nemaline myopathy 2
p.His7024fs Single submitter nemaline myopathy 2
p.His8155fs Single submitter nemaline myopathy 2
p.Ile1518fs Single submitter nemaline myopathy 2
p.Ile1832fs Single submitter nemaline myopathy 2
p.Ile1987fs Single submitter nemaline myopathy 2
p.Ile3170fs Single submitter nemaline myopathy 2
p.Ile3480_Asn3481insTer Single submitter nemaline myopathy 2
p.Ile4237fs Single submitter nemaline myopathy 2
p.Ile4246fs Single submitter nemaline myopathy 2
p.Ile4403_Val4404insTer Single submitter nemaline myopathy 2
p.Ile4454fs Single submitter nemaline myopathy 2
p.Ile4480fs Single submitter nemaline myopathy 2
p.Ile4546fs Single submitter nemaline myopathy 2
p.Ile5732fs Single submitter nemaline myopathy 2
p.Ile6742fs Single submitter nemaline myopathy 2
p.Ile7312delinsPhePhePhePhePhePheXaaXaaXaaXaaValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer Single submitter nemaline myopathy 2
p.Ile7890fs Single submitter nemaline myopathy 2
p.Ile8098fs Single submitter
p.Ile8332fs Single submitter nemaline myopathy 2
p.Ile856fs Single submitter nemaline myopathy 2
p.Leu1512fs Single submitter nemaline myopathy 2
p.Leu1742fs Single submitter nemaline myopathy 2
p.Leu2015fs Single submitter nemaline myopathy 2
p.Leu206fs Single submitter nemaline myopathy 2
p.Leu2081fs Single submitter nemaline myopathy 2
p.Leu246fs Single submitter nemaline myopathy 2
p.Leu2757fs Single submitter nemaline myopathy 2
p.Leu3243fs Single submitter nemaline myopathy
p.Leu3600fs Single submitter nemaline myopathy 2
p.Leu386fs Single submitter nemaline myopathy 2
p.Leu4065Ter Single submitter arthrogryposis multiplex congenita 6
p.Leu4147_Tyr4148insTer Single submitter nemaline myopathy 2
p.Leu4386Ter Single submitter nemaline myopathy 2
p.Leu4423Ter Single submitter nemaline myopathy 2
p.Leu4473fs Single submitter nemaline myopathy 2
p.Leu4518fs Single submitter nemaline myopathy 2
p.Leu4593fs Single submitter nemaline myopathy 2
p.Leu6883fs Single submitter nemaline myopathy 2
p.Leu7339fs Single submitter nemaline myopathy 2
p.Leu7473fs Single submitter nemaline myopathy 2
p.Leu7551fs Single submitter nemaline myopathy 2
p.Leu7817fs Single submitter nemaline myopathy 2

Pathogenic/Likely pathogenic 309

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

c.1152+1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.1152+1G>T Multiple submitters nemaline myopathy
c.11806-1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.12018+1G>A Multiple submitters nemaline myopathy 2
c.12639+2T>C Multiple submitters nemaline myopathy 2
c.13788+1G>A Multiple submitters nemaline myopathy 2
c.1470+1G>A Multiple submitters nemaline myopathy 2
c.1470+1G>C Multiple submitters nemaline myopathy 2
c.1569+1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.1570-2A>G Multiple submitters nemaline myopathy 2
c.1570-2del Multiple submitters nemaline myopathy
c.1674+1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.1674+2T>C Multiple submitters arthrogryposis multiplex congenita 6
c.17118+1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.17845-1G>A Multiple submitters nemaline myopathy
c.17845-2A>T Multiple submitters nemaline myopathy
c.18157-2A>G Multiple submitters arthrogryposis multiplex congenita 6
c.18891+1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.19101+5G>A Multiple submitters arthrogryposis multiplex congenita 6
c.19836+1G>A Multiple submitters nemaline myopathy 2
c.2212-1G>A Multiple submitters nemaline myopathy 2
c.22591-1G>C Multiple submitters nemaline myopathy 2
c.22800+1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.24114+1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.2415+1G>A Multiple submitters congenital myopathy
c.24300+1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.2836-2A>G Multiple submitters arthrogryposis multiplex congenita 6
c.294+1G>A Multiple submitters nemaline myopathy 2
c.294+2T>C Multiple submitters arthrogryposis multiplex congenita 6
c.2943+1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.3042+1G>A Multiple submitters nemaline myopathy 2
c.3252_3255+3del Multiple submitters arthrogryposis multiplex congenita 6
c.3255+1G>C Multiple submitters arthrogryposis multiplex congenita 6
c.3255+1G>T Multiple submitters nemaline myopathy 2
c.3567+1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.37-1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.3879+1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.3879+2T>C Multiple submitters arthrogryposis multiplex congenita 6
c.3880-2A>G Multiple submitters nemaline myopathy 2
c.3987+1_3987+2delinsTG Multiple submitters arthrogryposis multiplex congenita 6
c.3987+1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.5343+5G>A Multiple submitters nemaline myopathy
c.5763+5G>A Multiple submitters NEB-related disorder
c.6076-2A>C Multiple submitters nemaline myopathy 2
c.612+1G>A Multiple submitters nemaline myopathy 2
c.7228-1G>A Multiple submitters nemaline myopathy 2
c.8265+1G>A Multiple submitters nemaline myopathy 2
c.8889+1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.928-1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.9414+1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.9414+1G>T Multiple submitters NEB-related disorder
c.9619-2A>G Multiple submitters arthrogryposis multiplex congenita 6
p.Ala1542fs Multiple submitters arthrogryposis multiplex congenita 6
p.Ala2117fs Multiple submitters nemaline myopathy 2
p.Ala247fs Multiple submitters arthrogryposis multiplex congenita 6
p.Ala7426fs Multiple submitters nemaline myopathy 2
p.Ala834fs Multiple submitters nemaline myopathy 2
p.Arg2516Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Arg2680Ter Multiple submitters nemaline myopathy 2
p.Arg2799fs Multiple submitters NEB-related disorder
p.Arg2809Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Arg3016Ter Multiple submitters nemaline myopathy 2
p.Arg3259Ter Multiple submitters nemaline myopathy 2
p.Arg3538Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Arg3722Ter Multiple submitters nemaline myopathy
p.Arg5748fs Multiple submitters nemaline myopathy
p.Arg6077fs Multiple submitters nemaline myopathy 2
p.Arg6289Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Arg6469Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Arg6663fs Multiple submitters nemaline myopathy
p.Arg6835Ter Multiple submitters nemaline myopathy
p.Arg6887Ter Multiple submitters NEB-related disorder
p.Arg7026Ter Multiple submitters NEB-related disorder
p.Arg7265Ter Multiple submitters nemaline myopathy
p.Arg7443Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Arg7497Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Arg7904fs Multiple submitters nemaline myopathy 2
p.Arg7966fs Multiple submitters nemaline myopathy
p.Arg8059fs Multiple submitters arthrogryposis multiplex congenita 6
p.Arg8121fs Multiple submitters arthrogryposis multiplex congenita 6
p.Arg8121fs Multiple submitters nemaline myopathy 2
p.Arg8152Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Arg8186fs Multiple submitters arthrogryposis multiplex congenita 6
p.Arg8214fs Multiple submitters arthrogryposis multiplex congenita 6
p.Arg8316Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Arg8395Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Arg883Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Arg974Ter Multiple submitters nemaline myopathy
p.Asn2509fs Multiple submitters nemaline myopathy 2
p.Asn4191fs Multiple submitters nemaline myopathy 2
p.Asn4450fs Multiple submitters nemaline myopathy 2
p.Asn5772fs Multiple submitters nemaline myopathy 2
p.Asn5811Ter Multiple submitters nemaline myopathy 2
p.Asn5943fs Multiple submitters arthrogryposis multiplex congenita 6
p.Asn604fs Multiple submitters nemaline myopathy 2
p.Asn7169fs Multiple submitters nemaline myopathy
p.Asn7951fs Multiple submitters arthrogryposis multiplex congenita 6
p.Asn8001fs Multiple submitters arthrogryposis multiplex congenita 6
p.Asn8094fs Multiple submitters arthrogryposis multiplex congenita 6
p.Asn8168fs Multiple submitters arthrogryposis multiplex congenita 6
p.Asp1091fs Multiple submitters nemaline myopathy 2
p.Asp1129fs Multiple submitters nemaline myopathy 2
p.Asp258fs Multiple submitters nemaline myopathy 2
p.Asp3516fs Multiple submitters nemaline myopathy 2
p.Asp3676fs Multiple submitters nemaline myopathy
p.Asp3863delinsValTer Multiple submitters nemaline myopathy 2
p.Asp600_Tyr601insTer Multiple submitters arthrogryposis multiplex congenita 6
p.Asp6071fs Multiple submitters nemaline myopathy 2
p.Asp617fs Multiple submitters arthrogryposis multiplex congenita 6
p.Asp6738fs Multiple submitters nemaline myopathy
p.Asp7238fs Multiple submitters nemaline myopathy 2
p.Asp929fs Multiple submitters arthrogryposis multiplex congenita 6
p.Cys1286Ter Multiple submitters nemaline myopathy 2
p.Gln166fs Multiple submitters nemaline myopathy 2
p.Gln1853Ter Multiple submitters nemaline myopathy
p.Gln194Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Gln2129Ter Multiple submitters nemaline myopathy
p.Gln2259Ter Multiple submitters nemaline myopathy 2
p.Gln2935Ter Multiple submitters nemaline myopathy
p.Gln3194Ter Multiple submitters nemaline myopathy 2
p.Gln3489Ter Multiple submitters nemaline myopathy
p.Gln3907Ter Multiple submitters nemaline myopathy 2
p.Gln4074Ter Multiple submitters nemaline myopathy 2
p.Gln4383Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Gln4418Ter Multiple submitters nemaline myopathy 2
p.Gln4586Ter Multiple submitters nemaline myopathy 2
p.Gln4594Ter Multiple submitters nemaline myopathy 2
p.Gln513Ter Multiple submitters nemaline myopathy
p.Gln5425Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Gln5759fs Multiple submitters arthrogryposis multiplex congenita 6
p.Gln6014Ter Multiple submitters nemaline myopathy 2
p.Gln6261Ter Multiple submitters nemaline myopathy
p.Gln6334Ter Multiple submitters nemaline myopathy 2
p.Gln6344Ter Multiple submitters nemaline myopathy 2
p.Gln6360Ter Multiple submitters nemaline myopathy 2
p.Gln6432Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Gln660Ter Multiple submitters nemaline myopathy 2
p.Gln7136Ter Multiple submitters nemaline myopathy 2
p.Gln7251Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Gln7277Ter Multiple submitters nemaline myopathy
p.Gln734Ter Multiple submitters nemaline myopathy
p.Gln7493His Multiple submitters arthrogryposis multiplex congenita 6 ⚠
p.Gln7598fs Multiple submitters nemaline myopathy 2
p.Gln7782Ter Multiple submitters nemaline myopathy 2
p.Gln7847Ter Multiple submitters nemaline myopathy
p.Gln7876fs Multiple submitters nemaline myopathy
p.Gln7876Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Gln8002fs Multiple submitters nemaline myopathy
p.Gln8002Ter Multiple submitters nemaline myopathy 2
p.Gln8058Ter Multiple submitters nemaline myopathy 2
p.Gln8126fs Multiple submitters nemaline myopathy
p.Gln8267fs Multiple submitters arthrogryposis multiplex congenita 6
p.Gln8444Ter Multiple submitters nemaline myopathy
p.Gln8445Ter Multiple submitters nemaline myopathy
p.Glu2069Ter Multiple submitters nemaline myopathy 2
p.Glu2188fs Multiple submitters nemaline myopathy
p.Glu6386Ter Multiple submitters nemaline myopathy 2
p.Glu6852Ter Multiple submitters nemaline myopathy
p.Glu7074Ter Multiple submitters nemaline myopathy 2
p.Glu7380fs Multiple submitters arthrogryposis multiplex congenita 6
p.Glu7593fs Multiple submitters nemaline myopathy 2
p.Glu7972fs Multiple submitters nemaline myopathy
p.Glu8003fs Multiple submitters arthrogryposis multiplex congenita 6
p.Glu8025fs Multiple submitters nemaline myopathy 2
p.Glu8034fs Multiple submitters arthrogryposis multiplex congenita 6
p.Glu8074Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Glu8120fs Multiple submitters nemaline myopathy 2
p.Glu887Ter Multiple submitters nemaline myopathy 2
p.Gly2275fs Multiple submitters nemaline myopathy
p.Gly2365Ter Multiple submitters nemaline myopathy 2
p.Gly4367Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Gly5926_Tyr5927insTer Multiple submitters arthrogryposis multiplex congenita 6
p.Gly7687fs Multiple submitters nemaline myopathy 2
p.His1231fs Multiple submitters nemaline myopathy 2
p.His692fs Multiple submitters arthrogryposis multiplex congenita 6
p.His8031fs Multiple submitters nemaline myopathy
p.His8093fs Multiple submitters nemaline myopathy 2
p.His8124fs Multiple submitters arthrogryposis multiplex congenita 6
p.Ile2508fs Multiple submitters NEB-related disorder
p.Ile3156fs Multiple submitters arthrogryposis multiplex congenita 6
p.Ile4585Ter Multiple submitters nemaline myopathy 2
p.Ile8018fs Multiple submitters arthrogryposis multiplex congenita 6
p.Ile892fs Multiple submitters nemaline myopathy 2
p.Leu1282fs Multiple submitters nemaline myopathy 2
p.Leu1770Ter Multiple submitters nemaline myopathy 2
p.Leu2271_Tyr2272insTer Multiple submitters arthrogryposis multiplex congenita 6
p.Leu2316fs Multiple submitters arthrogryposis multiplex congenita 6
p.Leu2634fs Multiple submitters arthrogryposis multiplex congenita 6
p.Leu2745Ter Multiple submitters nemaline myopathy
p.Leu4443fs Multiple submitters nemaline myopathy 2
p.Leu5899fs Multiple submitters nemaline myopathy
p.Leu624Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Leu6771fs Multiple submitters nemaline myopathy 2
p.Leu7407fs Multiple submitters nemaline myopathy
p.Leu8000fs Multiple submitters nemaline myopathy
p.Leu8071fs Multiple submitters arthrogryposis multiplex congenita 6
p.Leu8102fs Multiple submitters arthrogryposis multiplex congenita 6
p.Leu8133fs Multiple submitters arthrogryposis multiplex congenita 6
p.Lys1201Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Lys1297Ter Multiple submitters nemaline myopathy
p.Lys1342fs Multiple submitters nemaline myopathy 2
p.Lys1615Ter Multiple submitters nemaline myopathy
p.Lys1842fs Multiple submitters arthrogryposis multiplex congenita 6
p.Lys2026fs Multiple submitters arthrogryposis multiplex congenita 6
p.Lys2677fs Multiple submitters nemaline myopathy 2
p.Lys406fs Multiple submitters nemaline myopathy
p.Lys6168fs Multiple submitters nemaline myopathy 2
p.Lys6931Ter Multiple submitters nemaline myopathy 2
p.Lys6992fs Multiple submitters nemaline myopathy 2
p.Lys6992Ter Multiple submitters nemaline myopathy 2
p.Lys6999Ter Multiple submitters nemaline myopathy
p.Lys7106fs Multiple submitters arthrogryposis multiplex congenita 6
p.Lys7467fs Multiple submitters nemaline myopathy 2
p.Lys7504fs Multiple submitters nemaline myopathy 2
p.Lys7571Ter Multiple submitters nemaline myopathy 2
p.Lys8061fs Multiple submitters arthrogryposis multiplex congenita 6
p.Lys8092fs Multiple submitters arthrogryposis multiplex congenita 6
p.Lys854_Met855insTer Multiple submitters nemaline myopathy 2
p.Met1744fs Multiple submitters nemaline myopathy 2
p.Met2517fs Multiple submitters nemaline myopathy 2
p.Met2849fs Multiple submitters arthrogryposis multiplex congenita 6
p.Met7547fs Multiple submitters nemaline myopathy 2
p.Met7793fs Multiple submitters NEB-related disorder
p.Met8119fs Multiple submitters arthrogryposis multiplex congenita 6
p.Met8381fs Multiple submitters arthrogryposis multiplex congenita 6
p.Phe8222fs Multiple submitters nemaline myopathy 2
p.Pro4061fs Multiple submitters arthrogryposis multiplex congenita 6
p.Pro4407fs Multiple submitters arthrogryposis multiplex congenita 6
p.Pro509fs Multiple submitters nemaline myopathy 2
p.Pro7957Ter Multiple submitters nemaline myopathy 2
p.Pro928fs Multiple submitters nemaline myopathy
p.Ser1292Gly Multiple submitters nemaline myopathy 2
p.Ser1712fs Multiple submitters nemaline myopathy
p.Ser1908fs Multiple submitters nemaline myopathy
p.Ser4373fs Multiple submitters nemaline myopathy
p.Ser45fs Multiple submitters arthrogryposis multiplex congenita 6
p.Ser6654fs Multiple submitters nemaline myopathy
p.Ser6998fs Multiple submitters nemaline myopathy 2
p.Ser8006fs Multiple submitters arthrogryposis multiplex congenita 6
p.Ser8038Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Ser8394Ter Multiple submitters nemaline myopathy 2
p.Thr27_Ile28insTer Multiple submitters NEB-related disorder
p.Thr4056fs Multiple submitters nemaline myopathy
p.Thr4075fs Multiple submitters arthrogryposis multiplex congenita 6
p.Thr5996fs Multiple submitters nemaline myopathy
p.Thr6633fs Multiple submitters nemaline myopathy 2
p.Thr7031fs Multiple submitters arthrogryposis multiplex congenita 6
p.Thr7042fs Multiple submitters nemaline myopathy 2
p.Thr7930fs Multiple submitters nemaline myopathy 2
p.Thr7961fs Multiple submitters nemaline myopathy 2
p.Thr8175fs Multiple submitters nemaline myopathy
p.Thr8237fs Multiple submitters arthrogryposis multiplex congenita 6
p.Trp1788Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Trp2241Ter Multiple submitters nemaline myopathy 2
p.Trp2418Ter Multiple submitters nemaline myopathy 2
p.Trp2661Ter Multiple submitters nemaline myopathy 2
p.Trp2970Ter Multiple submitters nemaline myopathy 2
p.Trp3325Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Trp3639Ter Multiple submitters nemaline myopathy 2
p.Trp3876Ter Multiple submitters nemaline myopathy
p.Trp4054fs Multiple submitters arthrogryposis multiplex congenita 6
p.Trp4054Ter Multiple submitters congenital myopathy
p.Trp4185Ter Multiple submitters nemaline myopathy 2
p.Trp4520Ter Multiple submitters nemaline myopathy 2
p.Trp5754Ter Multiple submitters nemaline myopathy
p.Trp5919Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Tyr1130Ter Multiple submitters nemaline myopathy
p.Tyr1332Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Tyr13Ter Multiple submitters nemaline myopathy 2
p.Tyr1576fs Multiple submitters nemaline myopathy 2
p.Tyr1614Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Tyr1784fs Multiple submitters arthrogryposis multiplex congenita 6
p.Tyr2198Ter Multiple submitters nemaline myopathy 2
p.Tyr2515fs Multiple submitters nemaline myopathy 2
p.Tyr2549Ter Multiple submitters nemaline myopathy 2
p.Tyr2794Phe Multiple submitters arthrogryposis multiplex congenita 6
p.Tyr312fs Multiple submitters arthrogryposis multiplex congenita 6
p.Tyr3280Ter Multiple submitters nemaline myopathy
p.Tyr3353Ter Multiple submitters nemaline myopathy 2
p.Tyr3870Ter Multiple submitters nemaline myopathy 2
p.Tyr387Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Tyr4216Ter Multiple submitters nemaline myopathy 2
p.Tyr42Ter Multiple submitters nemaline myopathy 2
p.Tyr4391Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Tyr4533Ter Multiple submitters nemaline myopathy 2
p.Tyr4591Ter Multiple submitters nemaline myopathy 2
p.Tyr5674fs Multiple submitters arthrogryposis multiplex congenita 6
p.Tyr5805Ter Multiple submitters nemaline myopathy
p.Tyr6125fs Multiple submitters nemaline myopathy 2
p.Tyr6617Ter Multiple submitters nemaline myopathy 2
p.Tyr6936Ter Multiple submitters nemaline myopathy
p.Tyr6978Ter Multiple submitters nemaline myopathy
p.Tyr7390Ter Multiple submitters nemaline myopathy
p.Tyr7533fs Multiple submitters nemaline myopathy 2
p.Tyr7712fs Multiple submitters NEB-related disorder
p.Tyr7785fs Multiple submitters nemaline myopathy 2
p.Tyr7796fs Multiple submitters arthrogryposis multiplex congenita 6
p.Tyr8010fs Multiple submitters arthrogryposis multiplex congenita 6
p.Tyr8072fs Multiple submitters arthrogryposis multiplex congenita 6
p.Tyr8134Ter Multiple submitters nemaline myopathy 2

Likely pathogenic 951

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

c.11910+1G>A Expert panel nemaline myopathy
c.6076-1G>T Expert panel nemaline myopathy
p.Asp498Gly Expert panel nemaline myopathy ⚠
c.11077-1G>A Multiple submitters nemaline myopathy 2
c.12330+2T>C Multiple submitters arthrogryposis multiplex congenita 6
c.12330+5G>A Multiple submitters arthrogryposis multiplex congenita 6
c.1258-2A>G Multiple submitters arthrogryposis multiplex congenita 6
c.1365+2T>C Multiple submitters nemaline myopathy 2
c.1470+2dup Multiple submitters arthrogryposis multiplex congenita 6
c.1570-1G>C Multiple submitters arthrogryposis multiplex congenita 6
c.18472-1G>C Multiple submitters arthrogryposis multiplex congenita 6
c.20577+2T>C Multiple submitters nemaline myopathy
c.20683-2A>C Multiple submitters arthrogryposis multiplex congenita 6
c.20787+2T>C Multiple submitters nemaline myopathy
c.21313-2A>T Multiple submitters arthrogryposis multiplex congenita 6
c.21418-1G>A Multiple submitters nemaline myopathy
c.21736-2A>G Multiple submitters nemaline myopathy 2
c.22272+1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.22272+2_22272+3del Multiple submitters nemaline myopathy 2
c.22375-1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.22375-1G>C Multiple submitters arthrogryposis multiplex congenita 6
c.23016+1G>A Multiple submitters nemaline myopathy 2
c.23017-12_23022delinsAT Multiple submitters nemaline myopathy 2
c.23127+2T>A Multiple submitters arthrogryposis multiplex congenita 6
c.23127+2T>C Multiple submitters nemaline myopathy 2
c.23347-2A>G Multiple submitters nemaline myopathy 2
c.23451+1G>C Multiple submitters nemaline myopathy 2
c.23451+1G>T Multiple submitters nemaline myopathy 2
c.23650-2A>T Multiple submitters nemaline myopathy 2
c.23742+2T>C Multiple submitters arthrogryposis multiplex congenita 6
c.23743-1G>C Multiple submitters nemaline myopathy 2
c.23836-1G>A Multiple submitters nemaline myopathy 2
c.23836-2A>G Multiple submitters nemaline myopathy 2
c.24022-1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.2415+2T>C Multiple submitters nemaline myopathy 2
c.2416-1G>C Multiple submitters nemaline myopathy 2
c.24301-1G>T Multiple submitters arthrogryposis multiplex congenita 6
c.24393+1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.24394-1G>A Multiple submitters nemaline myopathy
c.25057+1G>C Multiple submitters nemaline myopathy 2
c.25058-2A>C Multiple submitters nemaline myopathy 2
c.2523+1G>A Multiple submitters nemaline myopathy
c.25297+1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.295-2A>G Multiple submitters arthrogryposis multiplex congenita 6
c.36+1G>C Multiple submitters nemaline myopathy 2
c.403-2A>G Multiple submitters nemaline myopathy 2
c.403-6_405del Multiple submitters arthrogryposis multiplex congenita 6
c.4300-1G>C Multiple submitters nemaline myopathy 2
c.4506+1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.4507-1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.4507-2A>G Multiple submitters nemaline myopathy 2
c.4611+1G>A Multiple submitters nemaline myopathy 2
c.4719+2T>A Multiple submitters nemaline myopathy 2
c.4720-2A>G Multiple submitters arthrogryposis multiplex congenita 6
c.5032-1del Multiple submitters arthrogryposis multiplex congenita 6
c.5344-1G>C Multiple submitters Inborn genetic diseases
c.5763+1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.613-1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.613-1G>C Multiple submitters nemaline myopathy 2
c.717+1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.7227+1G>A Multiple submitters nemaline myopathy
c.9102+1G>A Multiple submitters nemaline myopathy 2
c.9102+1G>C Multiple submitters nemaline myopathy
c.9724-1G>A Multiple submitters arthrogryposis multiplex congenita 6
c.9831+1G>A Multiple submitters nemaline myopathy 2
p.Ala4412fs Multiple submitters nemaline myopathy 2
p.Asn2713fs Multiple submitters arthrogryposis multiplex congenita 6
p.Asn8044fs Multiple submitters nemaline myopathy 2
p.Asp1129_Tyr1130insTer Multiple submitters arthrogryposis multiplex congenita 6
p.Cys693Ter Multiple submitters nemaline myopathy 2
p.Gln2212Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Gln2449Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Gln4270Ter Multiple submitters nemaline myopathy 2
p.Gln699Ter Multiple submitters nemaline myopathy 2
p.Gln734_Cys735insTer Multiple submitters arthrogryposis multiplex congenita 6
p.Glu3116Ter Multiple submitters nemaline myopathy 2
p.Glu7932fs Multiple submitters nemaline myopathy
p.Gly1446Val Multiple submitters nemaline myopathy 2
p.Ile7405fs Multiple submitters arthrogryposis multiplex congenita 6
p.Leu2507fs Multiple submitters nemaline myopathy 2
p.Lys5614Ter Multiple submitters nemaline myopathy
p.Ser1180fs Multiple submitters nemaline myopathy 2
p.Ser8431fs Multiple submitters arthrogryposis multiplex congenita 6
p.Trp176Ter Multiple submitters nemaline myopathy
p.Trp2839Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Trp2910fs Multiple submitters arthrogryposis multiplex congenita 6
p.Trp3390Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Tyr1680Cys Multiple submitters nemaline myopathy
p.Tyr2137Ter Multiple submitters arthrogryposis multiplex congenita 6
p.Tyr6722fs Multiple submitters nemaline myopathy
p.Tyr6895Ter Multiple submitters nemaline myopathy
c.10143+2T>G Single submitter nemaline myopathy 2
c.10348-1G>A Single submitter NEB-related disorder
c.1035+1G>A Single submitter nemaline myopathy
c.1036-1G>A Single submitter arthrogryposis multiplex congenita 6
c.10452+1G>C Single submitter arthrogryposis multiplex congenita 6
c.10453-1G>C Single submitter
c.10560+1G>A Single submitter nemaline myopathy 2
c.10560+1G>C Single submitter arthrogryposis multiplex congenita 6
c.11077-2A>G Single submitter nemaline myopathy 2
c.11077-2A>T Single submitter nemaline myopathy
c.11181+2T>C Single submitter arthrogryposis multiplex congenita 6
c.11290-1G>A Single submitter arthrogryposis multiplex congenita 6
c.1153-1_1153del Single submitter arthrogryposis multiplex congenita 6
c.1153-2A>T Single submitter nemaline myopathy 2
c.11601+2T>A Single submitter nemaline myopathy 2
c.11601+2T>C Single submitter arthrogryposis multiplex congenita 6
c.11805+1G>A Single submitter nemaline myopathy 2
c.11805+2T>A Single submitter nemaline myopathy 2
c.11911-2A>G Single submitter arthrogryposis multiplex congenita 6
c.12019-2A>G Single submitter nemaline myopathy 2
c.12330+1G>A Single submitter nemaline myopathy 2
c.12331-1G>A Single submitter nemaline myopathy 2
c.1257+2T>G Single submitter nemaline myopathy 2
c.12640-1G>A Single submitter nemaline myopathy 2
c.12747+2T>C Single submitter nemaline myopathy 2
c.12748-1_12761del Single submitter nemaline myopathy 2
c.12748-1G>A Single submitter nemaline myopathy 2
c.13060-2A>G Single submitter nemaline myopathy 2
c.13368+1G>A Single submitter nemaline myopathy 2
c.13369-2_13374del Single submitter nemaline myopathy 2
c.13369-2A>C Single submitter nemaline myopathy 2
c.13369-2A>G Single submitter nemaline myopathy 2
c.13476+1G>A Single submitter nemaline myopathy 2
c.13477-2A>G Single submitter nemaline myopathy 2
c.13477-2A>T Single submitter nemaline myopathy 2
c.1365+1G>A Single submitter arthrogryposis multiplex congenita 6
c.1365+1G>T Single submitter nemaline myopathy 2
c.1470+1del Single submitter nemaline myopathy 2
c.14827-2A>C Single submitter nemaline myopathy
c.1569+1G>C Single submitter nemaline myopathy 2
c.16705-1G>C Single submitter arthrogryposis multiplex congenita 6
c.1675-1G>C Single submitter nemaline myopathy 2
c.1675-2A>G Single submitter nemaline myopathy 2
c.16909-2A>G Single submitter nemaline myopathy 2
c.17013+1G>A Single submitter arthrogryposis multiplex congenita 6
c.17013+1G>T Single submitter nemaline myopathy 2
c.17431-2A>T Single submitter nemaline myopathy 2
c.17535+1G>T Single submitter nemaline myopathy 2
c.17736+1G>A Single submitter nemaline myopathy 2
c.17737-1G>A Single submitter arthrogryposis multiplex congenita 6
c.1782+1del Single submitter nemaline myopathy 2
c.1782+2T>G Single submitter nemaline myopathy 2
c.17953_18472-56del Single submitter nemaline myopathy 2
c.18146_18156+7del Single submitter nemaline myopathy 2
c.18157-2A>C Single submitter arthrogryposis multiplex congenita 6
c.18261+1G>A Single submitter nemaline myopathy 2
c.18261+1G>T Single submitter nemaline myopathy 2
c.18262-1G>T Single submitter arthrogryposis multiplex congenita 6
c.18366+2T>C Single submitter nemaline myopathy 2
c.18367-1_18367delinsAA Single submitter nemaline myopathy 2
c.18367-1_18370del Single submitter nemaline myopathy 2
c.18471+1G>C Single submitter nemaline myopathy 2
c.18579+1G>T Single submitter arthrogryposis multiplex congenita 6
c.18580-8_18608del Single submitter nemaline myopathy 2
c.18694-1G>A Single submitter nemaline myopathy 2
c.18694-8_18707del Single submitter arthrogryposis multiplex congenita 6
c.18892-1G>T Single submitter arthrogryposis multiplex congenita 6
c.1897-1G>A Single submitter nemaline myopathy 2
c.18996+2T>C Single submitter nemaline myopathy 2
c.19101+1G>A Single submitter nemaline myopathy 2
c.19102-1G>T Single submitter nemaline myopathy
c.19206+2_19206+3del Single submitter nemaline myopathy 2
c.19314+1G>A Single submitter nemaline myopathy 2
c.19428+1dup Single submitter arthrogryposis multiplex congenita 6
c.19836+1del Single submitter nemaline myopathy 2
c.19944+1del Single submitter nemaline myopathy 2
c.19945-2A>C Single submitter nemaline myopathy 2
c.20049+2T>A Single submitter nemaline myopathy 2
c.20050-2A>T Single submitter arthrogryposis multiplex congenita 6
c.20157+1G>A Single submitter nemaline myopathy 2
c.20467-1G>A Single submitter nemaline myopathy 2
c.20578-1G>C Single submitter arthrogryposis multiplex congenita 6
c.20578-2A>G Single submitter nemaline myopathy 2
c.20682+1G>A Single submitter nemaline myopathy 2
c.2106+3A>C Single submitter nemaline myopathy
c.21102+2_21102+3del Single submitter nemaline myopathy 2
c.21103-1G>C Single submitter nemaline myopathy 2
c.21207+2T>C Single submitter nemaline myopathy 2
c.21208-21_21209dup Single submitter nemaline myopathy 2
c.21313-1G>C Single submitter nemaline myopathy 2
c.21313-2A>G Single submitter arthrogryposis multiplex congenita 6
c.21417+1G>A Single submitter nemaline myopathy 2
c.21418-2A>C Single submitter nemaline myopathy 2
c.21523-1G>T Single submitter nemaline myopathy 2
c.21630+2T>C Single submitter arthrogryposis multiplex congenita 6
c.21631-1G>C Single submitter nemaline myopathy 2
c.21631-2A>G Single submitter arthrogryposis multiplex congenita 6
c.21735+1G>C Single submitter nemaline myopathy 2
c.21736-1G>T Single submitter nemaline myopathy 2
c.21945+1G>A Single submitter nemaline myopathy 2
c.21945+1G>C Single submitter nemaline myopathy 2
c.22051-2A>C Single submitter arthrogryposis multiplex congenita 6
c.2211+2T>A Single submitter nemaline myopathy 2
c.22161+1G>A Single submitter nemaline myopathy 2
c.22162-1G>C Single submitter arthrogryposis multiplex congenita 6
c.22272_22272+3del Single submitter arthrogryposis multiplex congenita 6
c.22273-1G>T Single submitter NEB-related disorder
c.22375-2A>G Single submitter nemaline myopathy 2
c.22480-1G>C Single submitter nemaline myopathy 2
c.22590+1G>T Single submitter nemaline myopathy 2
c.22695+1G>A Single submitter arthrogryposis multiplex congenita 6
c.22695+2T>C Single submitter nemaline myopathy
c.22696-2A>C Single submitter nemaline myopathy 2
c.22800+2T>G Single submitter nemaline myopathy 2
c.22905+2T>C Single submitter nemaline myopathy 2
c.22906-1G>C Single submitter arthrogryposis multiplex congenita 6
c.23017-3_23017del Single submitter nemaline myopathy 2
c.2310+2_2310+3delinsAC Single submitter nemaline myopathy 2
c.23127+1G>A Single submitter nemaline myopathy 2
c.23128-1G>A Single submitter arthrogryposis multiplex congenita 6
c.23128-1G>T Single submitter nemaline myopathy 2
c.23241+2T>A Single submitter nemaline myopathy 2
c.23242-2A>G Single submitter nemaline myopathy 2
c.23346+1G>A Single submitter nemaline myopathy 2
c.23346+2T>G Single submitter nemaline myopathy 2
c.23451+1G>A Single submitter nemaline myopathy 2
c.23452-1G>A Single submitter arthrogryposis multiplex congenita 6
c.23452-1G>C Single submitter nemaline myopathy 2
c.23556+1G>T Single submitter nemaline myopathy 2
c.23556+2T>A Single submitter nemaline myopathy 2
c.23650-1G>A Single submitter nemaline myopathy 2
c.23742+1G>A Single submitter nemaline myopathy 2
c.23835+2T>C Single submitter nemaline myopathy 2
c.23929-1G>C Single submitter nemaline myopathy 2
c.23929-2A>C Single submitter nemaline myopathy 2
c.24022-1G>C Single submitter nemaline myopathy 2
c.24114+1G>C Single submitter nemaline myopathy 2
c.24115-1G>A Single submitter nemaline myopathy 2
c.24115-2A>G Single submitter nemaline myopathy 2
c.2415+1G>T Single submitter
c.24297_24300+1del Single submitter nemaline myopathy 2
c.24301-296_24377del Single submitter nemaline myopathy 2
c.24394-1G>C Single submitter nemaline myopathy 2
c.24486+2T>C Single submitter nemaline myopathy 2
c.24487-1G>A Single submitter nemaline myopathy 2
c.24487-2A>G Single submitter nemaline myopathy 2
c.24487-6_24491del Single submitter nemaline myopathy 2
c.24579+1G>A Single submitter arthrogryposis multiplex congenita 6
c.24579+1G>C Single submitter arthrogryposis multiplex congenita 6
c.24579+1G>T Single submitter nemaline myopathy 2
c.24579+2T>A Single submitter nemaline myopathy 2
c.24579+2T>C Single submitter nemaline myopathy 2
c.24580-1G>C Single submitter nemaline myopathy 2
c.24672+1G>C Single submitter nemaline myopathy 2
c.24673-1G>A Single submitter nemaline myopathy 2
c.24673-1G>C Single submitter nemaline myopathy 2
c.24673-2A>G Single submitter nemaline myopathy 2
c.2472_2638-455del Single submitter nemaline myopathy 2
c.24765+1G>A Single submitter nemaline myopathy 2
c.24765+2T>A Single submitter nemaline myopathy 2
c.24873+2T>C Single submitter nemaline myopathy 2
c.25151-2A>G Single submitter arthrogryposis multiplex congenita 6
c.2523+2T>A Single submitter nemaline myopathy 2
c.25235_25297+90del Single submitter nemaline myopathy 2
c.2524-1G>C Single submitter nemaline myopathy 2
c.2524-2A>G Single submitter nemaline myopathy 2
c.25298-2A>C Single submitter nemaline myopathy 2
c.25298-2A>G Single submitter nemaline myopathy 2
c.25404+1G>A Single submitter arthrogryposis multiplex congenita 6
c.25404+1G>T Single submitter arthrogryposis multiplex congenita 6
c.25404+2_25404+3delinsATGGAG Single submitter NEB-related disorder
c.25405-1G>A Single submitter arthrogryposis multiplex congenita 6
c.25405-1G>C Single submitter nemaline myopathy 2
c.2637+2T>G Single submitter arthrogryposis multiplex congenita 6
c.2835+1G>A Single submitter nemaline myopathy 2
c.3042+1G>C Single submitter nemaline myopathy 2
c.3042+1G>T Single submitter nemaline myopathy 2
c.3042+2T>G Single submitter arthrogryposis multiplex congenita 6
c.3043-1G>A Single submitter nemaline myopathy 2
c.3148-19_3148-2del Single submitter nemaline myopathy 2
c.3567+1G>C Single submitter arthrogryposis multiplex congenita 6
c.36+1G>T Single submitter
c.37-1G>C Single submitter nemaline myopathy 2
c.3879+1G>C Single submitter arthrogryposis multiplex congenita 6
c.3880-1G>A Single submitter nemaline myopathy 2
c.3988-1G>A Single submitter nemaline myopathy 2
c.3988-2_3988-1delinsTATA Single submitter
c.3988-2A>C Single submitter nemaline myopathy
c.3988-2A>G Single submitter nemaline myopathy 2
c.402+1G>A Single submitter arthrogryposis multiplex congenita 6
c.402+1G>T Single submitter nemaline myopathy 2
c.403-1G>C Single submitter nemaline myopathy 2
c.4300-1G>A Single submitter nemaline myopathy 2
c.4506+2T>C Single submitter nemaline myopathy 2
c.4507-2A>C Single submitter nemaline myopathy 2
c.4719+1G>A Single submitter nemaline myopathy 2
c.498_507+18del Single submitter nemaline myopathy 2
c.5031+2T>C Single submitter nemaline myopathy 2
c.5032-2A>G Single submitter nemaline myopathy 2
c.507+2T>C Single submitter nemaline myopathy 2
c.508-1G>A Single submitter nemaline myopathy 2
c.5239-1G>A Single submitter nemaline myopathy 2
c.5343+1G>C Single submitter nemaline myopathy 2
c.5451+1G>A Single submitter arthrogryposis multiplex congenita 6
c.5451+1G>T Single submitter nemaline myopathy 2
c.5451+2_5451+11del Single submitter nemaline myopathy 2
c.5764-1G>A Single submitter arthrogryposis multiplex congenita 6
c.5970+4A>G Single submitter nemaline myopathy 2
c.5971-1G>A Single submitter arthrogryposis multiplex congenita 6

Conflicting classifications of pathogenicity 976

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

c.10144-2A>G Single submitter nemaline myopathy
c.10872+3A>G Single submitter
c.11076+12A>G Single submitter nemaline myopathy 2
c.11076+1G>A Single submitter arthrogryposis multiplex congenita 6
c.11182-8T>A Single submitter nemaline myopathy 2
c.1153-2A>G Single submitter arthrogryposis multiplex congenita 6
c.11602-13A>T Single submitter nemaline myopathy 2
c.1258-7C>G Single submitter nemaline myopathy 2
c.13059+5G>A Single submitter nemaline myopathy 2
c.13368+6A>G Single submitter nemaline myopathy 2
c.1365+14C>A Single submitter nemaline myopathy 2
c.1366-4A>G Single submitter nemaline myopathy 2
c.1569+339A>G Single submitter nemaline myopathy
c.16704+1G>A Single submitter nemaline myopathy 2
c.1674+3A>C Single submitter nemaline myopathy 2
c.1675-8_1675-7del Single submitter nemaline myopathy 2
c.1783-5T>C Single submitter nemaline myopathy 2
c.17845-5G>A Single submitter nemaline myopathy 2
c.17845-6C>T Single submitter nemaline myopathy 2
c.18262-13C>T Single submitter nemaline myopathy 2
c.18579+11C>T Single submitter nemaline myopathy 2
c.18579+15T>C Single submitter nemaline myopathy 2
c.18580-8C>T Single submitter nemaline myopathy 2
c.18694-7A>T Single submitter nemaline myopathy 2
c.18694-7del Single submitter nemaline myopathy 2
c.1896+2T>C Single submitter nemaline myopathy
c.19207-20_19207-18del Single submitter nemaline myopathy 2
c.19315-4A>G Single submitter nemaline myopathy 2
c.19428+8C>A Single submitter nemaline myopathy 2
c.19837-19A>G Single submitter nemaline myopathy 2
c.20158-6A>G Single submitter arthrogryposis multiplex congenita 6
c.20262+2T>C Single submitter nemaline myopathy
c.20262+2T>G Single submitter nemaline myopathy
c.20367+15G>C Single submitter nemaline myopathy 2
c.20466+11A>G Single submitter nemaline myopathy 2
c.20466+7G>A Single submitter nemaline myopathy 2
c.20467-6_20467-4dup Single submitter
c.20578-6G>A Single submitter nemaline myopathy 2
c.20578-8A>G Single submitter nemaline myopathy 2
c.2107-8C>T Single submitter nemaline myopathy 2
c.21312+8T>A Single submitter nemaline myopathy 2
c.21417+3A>G Single submitter arthrogryposis multiplex congenita 6
c.21736-13_21743del Single submitter nemaline myopathy
c.21840+13A>C Single submitter nemaline myopathy 2
c.2211+5G>A Single submitter NEB-related disorder
c.2211+5G>T Single submitter nemaline myopathy
c.2212-18G>T Single submitter nemaline myopathy 2
c.22272+2dup Single submitter arthrogryposis multiplex congenita 6 ⚠
c.22272+7T>C Single submitter nemaline myopathy 2
c.22273-8C>A Single submitter nemaline myopathy 2
c.22591-3C>G Single submitter nemaline myopathy
c.22696-1G>A Single submitter nemaline myopathy ⚠
c.22800+9A>G Single submitter nemaline myopathy 2
c.22801-7T>C Single submitter nemaline myopathy 2
c.22905+1del Single submitter nemaline myopathy ⚠
c.22905+7C>T Single submitter nemaline myopathy 2
c.22906-6C>T Single submitter nemaline myopathy 2
c.2310+5G>A Single submitter nemaline myopathy
c.23127+4G>A Single submitter nemaline myopathy 2
c.23649+10_23649+11del Single submitter nemaline myopathy 2
c.23650-5T>G Single submitter nemaline myopathy 2
c.2416-6G>T Single submitter nemaline myopathy 2
c.24874-8C>T Single submitter nemaline myopathy 2
c.25057+1G>A Single submitter NEB-related disorder
c.25057+1G>T Single submitter nemaline myopathy
c.25298-12_25298-10del Single submitter nemaline myopathy 2
c.3255+2dup Single submitter nemaline myopathy
c.36+2dup Single submitter nemaline myopathy
c.3774+1G>A Single submitter nemaline myopathy 2
c.3879+8G>A Single submitter nemaline myopathy 2
c.4299+7A>G Single submitter nemaline myopathy 2
c.5452-1G>A Single submitter nemaline myopathy
c.5763+15C>T Single submitter nemaline myopathy 2
c.5764-2A>G Single submitter nemaline myopathy
c.5971-6dup Single submitter nemaline myopathy 2
c.6075+3A>T Single submitter nemaline myopathy
c.6808-11T>C Single submitter nemaline myopathy 2
c.6916-20T>C Single submitter nemaline myopathy 2
c.7227+13T>G Single submitter nemaline myopathy 2
c.7228-5C>T Single submitter nemaline myopathy 2
c.7291G>A Single submitter arthrogryposis multiplex congenita 6
c.9832-7A>T Single submitter nemaline myopathy 2
c.*201A>T Single submitter nemaline myopathy 2
c.*212T>C Single submitter nemaline myopathy 2
p.52LAQPA[3] Single submitter nemaline myopathy 2
p.Ala1016Thr Single submitter Inborn genetic diseases ⚠
p.Ala1082Val Single submitter nemaline myopathy 2 ⚠
p.Ala1148Glu Single submitter nemaline myopathy 2
p.Ala1148Val Single submitter Inborn genetic diseases ⚠
p.Ala114Thr Single submitter nemaline myopathy 2 ⚠
p.Ala1174Thr Single submitter nemaline myopathy 2 ⚠
p.Ala1322Ser Single submitter nemaline myopathy 2 ⚠
p.Ala1396Ser Single submitter nemaline myopathy 2 ⚠
p.Ala1400Thr Single submitter Inborn genetic diseases ⚠
p.Ala1493Pro Single submitter Inborn genetic diseases
p.Ala1493Val Single submitter nemaline myopathy 2
p.Ala1532Thr Single submitter nemaline myopathy 2
p.Ala1538Pro Single submitter nemaline myopathy 2
p.Ala1579Thr Single submitter Inborn genetic diseases ⚠
p.Ala1579Val Single submitter nemaline myopathy 2 ⚠
p.Ala1583Val Single submitter arthrogryposis multiplex congenita 6 ⚠
p.Ala1804Glu Single submitter nemaline myopathy 2 ⚠
p.Ala1804Thr Single submitter nemaline myopathy 2 ⚠
p.Ala1807Pro Single submitter Inborn genetic diseases ⚠
p.Ala1807Val Single submitter Inborn genetic diseases
p.Ala1810Val Single submitter Inborn genetic diseases ⚠
p.Ala1881Thr Single submitter Inborn genetic diseases ⚠
p.Ala195= Single submitter nemaline myopathy 2
p.Ala200Thr Single submitter nemaline myopathy 2 ⚠
p.Ala2059Thr Single submitter nemaline myopathy 2 ⚠
p.Ala2130Thr Single submitter Inborn genetic diseases ⚠
p.Ala2150Val Single submitter Inborn genetic diseases ⚠
p.Ala2260Pro Single submitter nemaline myopathy 2
p.Ala2290Thr Single submitter NEB-related disorder ⚠
p.Ala2290Val Single submitter nemaline myopathy 2
p.Ala247Thr Single submitter nemaline myopathy 2 ⚠
p.Ala2681Val Single submitter nemaline myopathy 2 ⚠
p.Ala2776= Single submitter nemaline myopathy 2
p.Ala2784Thr Single submitter nemaline myopathy 2 ⚠
p.Ala2954Ser Single submitter nemaline myopathy 2
p.Ala3019Thr Single submitter nemaline myopathy 2
p.Ala3024Val Single submitter nemaline myopathy 2
p.Ala3267Ser Single submitter nemaline myopathy 2 ⚠
p.Ala3411= Single submitter nemaline myopathy 2
p.Ala3537Thr Single submitter Inborn genetic diseases ⚠
p.Ala3926Gly Single submitter nemaline myopathy 2
p.Ala396Val Single submitter Inborn genetic diseases ⚠
p.Ala3991Thr Single submitter nemaline myopathy 2
p.Ala4070= Single submitter nemaline myopathy 2
p.Ala4171Thr Single submitter nemaline myopathy 2
p.Ala4240Thr Single submitter
p.Ala4512Thr Single submitter nemaline myopathy 2
p.Ala4919Pro Single submitter
p.Ala5662Thr Single submitter nemaline myopathy 2
p.Ala5683Val Single submitter nemaline myopathy 2 ⚠
p.Ala5735Thr Single submitter nemaline myopathy 2
p.Ala5840Thr Single submitter distal myopathy ⚠
p.Ala5840Val Single submitter Inborn genetic diseases ⚠
p.Ala5869Val Single submitter nemaline myopathy 2
p.Ala5887Thr Single submitter nemaline myopathy 2 ⚠
p.Ala5980Thr Single submitter Inborn genetic diseases ⚠
p.Ala6163Val Single submitter nemaline myopathy 2 ⚠
p.Ala6231Val Single submitter nemaline myopathy 2 ⚠
p.Ala6291Thr Single submitter nemaline myopathy 2 ⚠
p.Ala6338Thr Single submitter nemaline myopathy 2 ⚠
p.Ala6429Asn Single submitter nemaline myopathy 2
p.Ala6582= Single submitter nemaline myopathy 2
p.Ala6582Val Single submitter Inborn genetic diseases ⚠
p.Ala6885Val Single submitter nemaline myopathy 2
p.Ala7111Gly Single submitter nemaline myopathy 2
p.Ala7133Thr Single submitter nemaline myopathy 2 ⚠
p.Ala7254Asp Single submitter Inborn genetic diseases
p.Ala7341Val Single submitter nemaline myopathy 2
p.Ala7426Thr Single submitter nemaline myopathy 2 ⚠
p.Ala761= Single submitter nemaline myopathy 2
p.Ala7626= Single submitter nemaline myopathy 2
p.Ala7729Thr Single submitter Inborn genetic diseases ⚠
p.Ala8174Thr Single submitter nemaline myopathy 2 ⚠
p.Ala8451Val Single submitter Inborn genetic diseases ⚠
p.Ala858Val Single submitter Inborn genetic diseases ⚠
p.Ala895Thr Single submitter Inborn genetic diseases ⚠
p.Ala941= Single submitter nemaline myopathy 2
p.Ala941Val Single submitter nemaline myopathy 2 ⚠
p.Arg1124Trp Single submitter nemaline myopathy 2
p.Arg123Cys Single submitter nemaline myopathy 2 ⚠
p.Arg123His Single submitter nemaline myopathy 2 ⚠
p.Arg1368His Single submitter Inborn genetic diseases
p.Arg138Gln Single submitter Inborn genetic diseases ⚠
p.Arg1555Lys Single submitter nemaline myopathy 2 ⚠
p.Arg1612Cys Single submitter Inborn genetic diseases ⚠
p.Arg1612His Single submitter Inborn genetic diseases ⚠
p.Arg1717Cys Single submitter Inborn genetic diseases
p.Arg1717His Single submitter nemaline myopathy 2
p.Arg1835Gln Single submitter Inborn genetic diseases ⚠
p.Arg1835Trp Single submitter nemaline myopathy 2
p.Arg1856Trp Single submitter Inborn genetic diseases
p.Arg1894Gly Single submitter Inborn genetic diseases ⚠
p.Arg1961Cys Single submitter Inborn genetic diseases
p.Arg2056Gly Single submitter nemaline myopathy 2 ⚠
p.Arg2100Gln Single submitter Inborn genetic diseases
p.Arg2100Trp Single submitter nemaline myopathy 2
p.Arg2161Cys Single submitter arthrogryposis multiplex congenita 6 ⚠
p.Arg2161His Single submitter nemaline myopathy 2 ⚠
p.Arg2205Cys Single submitter nemaline myopathy 2
p.Arg2205His Single submitter nemaline myopathy 2
p.Arg2313Gln Single submitter Inborn genetic diseases ⚠
p.Arg2323Gln Single submitter nemaline myopathy 2 ⚠
p.Arg2437Gly Single submitter nemaline myopathy 2 ⚠
p.Arg2437Trp Single submitter arthrogryposis multiplex congenita 6 ⚠
p.Arg2448Cys Single submitter nemaline myopathy 2 ⚠
p.Arg2448His Single submitter nemaline myopathy 2 ⚠
p.Arg2481Gly Single submitter Inborn genetic diseases
p.Arg2516Gln Single submitter Inborn genetic diseases ⚠
p.Arg2543Gln Single submitter nemaline myopathy 2 ⚠
p.Arg2543Trp Single submitter Inborn genetic diseases
p.Arg2644Gln Single submitter Inborn genetic diseases
p.Arg2680Gln Single submitter nemaline myopathy 2 ⚠
p.Arg2691Cys Single submitter nemaline myopathy 2
p.Arg2691His Single submitter limb-girdle muscular dystrophy
p.Arg2773Trp Single submitter
p.Arg2812His Single submitter nemaline myopathy 2 ⚠
p.Arg2830= Single submitter nemaline myopathy 2
p.Arg2906Ser Single submitter nemaline myopathy 2 ⚠
p.Arg2934Cys Single submitter nemaline myopathy 2
p.Arg2934His Single submitter nemaline myopathy 2
p.Arg2990Gly Single submitter nemaline myopathy 2
p.Arg3016Gln Single submitter arthrogryposis multiplex congenita 6
p.Arg301Lys Single submitter Inborn genetic diseases ⚠
p.Arg301Ser Single submitter Inborn genetic diseases ⚠
p.Arg3052Gln Single submitter nemaline myopathy 2
p.Arg3259Gln Single submitter nemaline myopathy 2 ⚠
p.Arg3515Gln Single submitter nemaline myopathy 2 ⚠
p.Arg3528His Single submitter nemaline myopathy 2 ⚠
p.Arg3559Cys Single submitter Inborn genetic diseases
p.Arg3663Cys Single submitter Inborn genetic diseases
p.Arg3663His Single submitter Inborn genetic diseases
p.Arg3665Cys Single submitter Inborn genetic diseases ⚠
p.Arg3665His Single submitter Inborn genetic diseases ⚠
p.Arg3693His Single submitter Inborn genetic diseases ⚠
p.Arg3722Gln Single submitter nemaline myopathy 2 ⚠
p.Arg3895Gly Single submitter nemaline myopathy 2 ⚠
p.Arg3906His Single submitter nemaline myopathy 2
p.Arg4257His Single submitter nemaline myopathy 2
p.Arg4392His Single submitter nemaline myopathy 2
p.Arg4569His Single submitter nemaline myopathy 2
p.Arg5229His Single submitter
p.Arg5239Cys Single submitter
p.Arg5546His Single submitter peripheral neuropathy
p.Arg5579Cys Single submitter Inborn genetic diseases
p.Arg5675His Single submitter Inborn genetic diseases ⚠
p.Arg5688Gln Single submitter nemaline myopathy 2 ⚠
p.Arg5733His Single submitter nemaline myopathy 2 ⚠
p.Arg5748Gln Single submitter nemaline myopathy 2 ⚠
p.Arg5748Trp Single submitter arthrogryposis multiplex congenita 6
p.Arg5821His Single submitter arthrogryposis multiplex congenita 6
p.Arg5882Gln Single submitter nemaline myopathy 2 ⚠
p.Arg5882Gly Single submitter nemaline myopathy 2
p.Arg5882Trp Single submitter nemaline myopathy 2
p.Arg6025His Single submitter Inborn genetic diseases
p.Arg6177Cys Single submitter nemaline myopathy 2 ⚠
p.Arg6177His Single submitter nemaline myopathy 2 ⚠
p.Arg6270Gln Single submitter Inborn genetic diseases ⚠
p.Arg6287Cys Single submitter Inborn genetic diseases
p.Arg6287His Single submitter nemaline myopathy 2 ⚠
p.Arg6289Gln Single submitter nemaline myopathy 2
p.Arg633Ser Single submitter nemaline myopathy 2 ⚠
p.Arg6411Thr Single submitter Inborn genetic diseases ⚠
p.Arg6442Gln Single submitter nemaline myopathy 2
p.Arg6466Gln Single submitter nemaline myopathy 2
p.Arg6466Trp Single submitter Inborn genetic diseases
p.Arg6469Gln Single submitter Inborn genetic diseases ⚠
p.Arg6575His Single submitter nemaline myopathy 2 ⚠
p.Arg6638Trp Single submitter nemaline myopathy 2
p.Arg6656Cys Single submitter nemaline myopathy 2 ⚠
p.Arg6663Ser Single submitter Inborn genetic diseases
p.Arg6678Cys Single submitter nemaline myopathy 2
p.Arg6678His Single submitter nemaline myopathy 2 ⚠
p.Arg6711Gln Single submitter arthrogryposis multiplex congenita 6 ⚠
p.Arg6711Trp Single submitter arthrogryposis multiplex congenita 6
p.Arg6723Trp Single submitter Inborn genetic diseases
p.Arg6743His Single submitter nemaline myopathy 2 ⚠
p.Arg6781Cys Single submitter Inborn genetic diseases
p.Arg6781His Single submitter Inborn genetic diseases ⚠
p.Arg6814Cys Single submitter nemaline myopathy 2
p.Arg6814His Single submitter Inborn genetic diseases ⚠
p.Arg6816Gln Single submitter Inborn genetic diseases
p.Arg6816Gly Single submitter Inborn genetic diseases
p.Arg6819Trp Single submitter nemaline myopathy 2
p.Arg6835Gln Single submitter Inborn genetic diseases ⚠
p.Arg6887Gln Single submitter Inborn genetic diseases ⚠
p.Arg68Lys Single submitter nemaline myopathy 2 ⚠
p.Arg6954Lys Single submitter Inborn genetic diseases ⚠
p.Arg6966Cys Single submitter nemaline myopathy 2
p.Arg6991His Single submitter Inborn genetic diseases
p.Arg69Lys Single submitter nemaline myopathy 2 ⚠
p.Arg7019Cys Single submitter nemaline myopathy 2 ⚠
p.Arg7019His Single submitter Inborn genetic diseases ⚠
p.Arg7114Gln Single submitter Inborn genetic diseases ⚠
p.Arg7114Trp Single submitter nemaline myopathy 2 ⚠
p.Arg7124His Single submitter nemaline myopathy 2
p.Arg7164Cys Single submitter Inborn genetic diseases
p.Arg7164His Single submitter Inborn genetic diseases ⚠
p.Arg7202Cys Single submitter Inborn genetic diseases
p.Arg7202His Single submitter nemaline myopathy 2 ⚠
p.Arg7287= Single submitter nemaline myopathy 2
p.Arg7287Gln Single submitter Inborn genetic diseases ⚠
p.Arg7287Gly Single submitter Inborn genetic diseases ⚠
p.Arg7287Trp Single submitter Inborn genetic diseases
p.Arg73Gln Single submitter Inborn genetic diseases ⚠
p.Arg73Trp Single submitter nemaline myopathy 2
p.Arg7466Cys Single submitter nemaline myopathy 2
p.Arg7466His Single submitter Inborn genetic diseases
p.Arg7478Cys Single submitter nemaline myopathy 2
p.Arg7478His Single submitter nemaline myopathy 2
p.Arg7497Gln Single submitter nemaline myopathy 2 ⚠
p.Arg7611Gln Single submitter nemaline myopathy 2
p.Arg7684His Single submitter Inborn genetic diseases ⚠
p.Arg7714Gln Single submitter Inborn genetic diseases ⚠
p.Arg7809Trp Single submitter nemaline myopathy 2
p.Arg7842Cys Single submitter nemaline myopathy 2

Benign 218

p.Asp3727Glu Expert panel nemaline myopathy
p.Gln6261= Expert panel nemaline myopathy
c.10347+6C>T Multiple submitters nemaline myopathy 2
c.10452+71T>C Multiple submitters nemaline myopathy 2
c.10452+9A>G Multiple submitters nemaline myopathy 2
c.10872+27A>C Multiple submitters nemaline myopathy 2
c.11289+99G>A Multiple submitters nemaline myopathy 2
c.1152+49A>G Multiple submitters
c.12018+29G>A Multiple submitters nemaline myopathy 2
c.16284+11A>G Multiple submitters
c.16704+12G>C Multiple submitters
c.16705-18C>T Multiple submitters arthrogryposis multiplex congenita 6
c.1674+30T>G Multiple submitters nemaline myopathy 2
c.1675-67C>T Multiple submitters nemaline myopathy 2
c.17535+90A>G Multiple submitters nemaline myopathy 2
c.18156+222T>A Multiple submitters nemaline myopathy 2
c.18366+78T>C Multiple submitters nemaline myopathy 2
c.18580-32C>T Multiple submitters
c.19101+41C>T Multiple submitters
c.19314+42C>T Multiple submitters nemaline myopathy 2
c.19731+103G>T Multiple submitters nemaline myopathy 2
c.20158-42G>A Multiple submitters nemaline myopathy 2
c.20368-57G>A Multiple submitters nemaline myopathy 2
c.20998-44A>C Multiple submitters nemaline myopathy 2
c.21418-6del Multiple submitters nemaline myopathy 2
c.21522+78C>G Multiple submitters arthrogryposis multiplex congenita 6
c.21840+82A>G Multiple submitters nemaline myopathy 2
c.22161+18G>C Multiple submitters arthrogryposis multiplex congenita 6
c.22800+32C>T Multiple submitters nemaline myopathy 2
c.23241+42T>C Multiple submitters
c.24393+60A>C Multiple submitters nemaline myopathy 2
c.24580-81A>G Multiple submitters nemaline myopathy 2
c.24766-18C>T Multiple submitters arthrogryposis multiplex congenita 6
c.24874-47A>T Multiple submitters nemaline myopathy 2
c.25150+12G>A Multiple submitters nemaline myopathy 2
c.25405-17dup Multiple submitters nemaline myopathy 2
c.25405-34T>C Multiple submitters nemaline myopathy 2
c.294+52T>G Multiple submitters nemaline myopathy 2
c.2944-9G>A Multiple submitters nemaline myopathy 2
c.3775-6T>C Multiple submitters nemaline myopathy 2
c.3879+20G>T Multiple submitters nemaline myopathy 2
c.402+101A>G Multiple submitters nemaline myopathy 2
c.4611+70T>C Multiple submitters nemaline myopathy 2
c.5031+48A>G Multiple submitters nemaline myopathy 2
c.5763+35T>C Multiple submitters nemaline myopathy 2
c.5763+4C>T Multiple submitters nemaline myopathy 2
c.6184-14T>A Multiple submitters nemaline myopathy 2
c.6807+6T>G Multiple submitters nemaline myopathy 2
c.8160+84G>A Multiple submitters nemaline myopathy 2
c.8995-14T>C Multiple submitters nemaline myopathy 2
p.Ala257= Multiple submitters arthrogryposis multiplex congenita 6
p.Ala5514= Multiple submitters nemaline myopathy 2
p.Ala8145Pro Multiple submitters arthrogryposis multiplex congenita 6
p.Arg3488His Multiple submitters nemaline myopathy 2
p.Arg5541His Multiple submitters
p.Arg6102Thr Multiple submitters arthrogryposis multiplex congenita 6
p.Asn1138Asp Multiple submitters nemaline myopathy 2
p.Asn3446= Multiple submitters nemaline myopathy 2
p.Asn3448= Multiple submitters nemaline myopathy 2
p.Asn7182= Multiple submitters nemaline myopathy 2
p.Asp2730Gly Multiple submitters nemaline myopathy 2
p.Asp2864= Multiple submitters nemaline myopathy 2
p.Asp2882= Multiple submitters nemaline myopathy 2
p.Asp6731Val Multiple submitters nemaline myopathy 2
p.Asp6922= Multiple submitters arthrogryposis multiplex congenita 6
p.Asp7286Asn Multiple submitters nemaline myopathy 2
p.Cys3042Arg Multiple submitters nemaline myopathy 2
p.Glu1469Asp Multiple submitters nemaline myopathy 2
p.Glu1790= Multiple submitters nemaline myopathy 2
p.Gly6866= Multiple submitters nemaline myopathy 2
p.Gly7635Glu Multiple submitters nemaline myopathy 2
p.Gly7685= Multiple submitters nemaline myopathy 2
p.Ile2239Met Multiple submitters nemaline myopathy 2
p.Ile3923= Multiple submitters nemaline myopathy 2
p.Ile5557Thr Multiple submitters
p.Lys1027Asn Multiple submitters arthrogryposis multiplex congenita 6
p.Lys3569= Multiple submitters nemaline myopathy 2
p.Lys5515Thr Multiple submitters
p.Lys7867Gln Multiple submitters nemaline myopathy 2
p.Met8088Ile Multiple submitters nemaline myopathy 2
p.Pro3121= Multiple submitters nemaline myopathy 2
p.Ser2912Pro Multiple submitters nemaline myopathy 2
p.Ser5483= Multiple submitters nemaline myopathy 2
p.Ser5588Thr Multiple submitters nemaline myopathy 2
p.Ser6437= Multiple submitters nemaline myopathy 2
p.Ser7173= Multiple submitters nemaline myopathy 2
p.Thr3668= Multiple submitters nemaline myopathy 2
p.Thr7195= Multiple submitters arthrogryposis multiplex congenita 6
p.Thr8514= Multiple submitters nemaline myopathy 2
p.Trp3603Cys Multiple submitters arthrogryposis multiplex congenita 6
p.Tyr1301= Multiple submitters nemaline myopathy 2
p.Tyr1301His Multiple submitters nemaline myopathy 2
p.Tyr1924= Multiple submitters nemaline myopathy 2
p.Tyr773Cys Multiple submitters nemaline myopathy 2
p.Val1479Ile Multiple submitters nemaline myopathy 2
p.Val1491Met Multiple submitters arthrogryposis multiplex congenita 6
p.Val1701Ala Multiple submitters nemaline myopathy 2
c.11077-20dup Single submitter
c.11077-35CT[9] Single submitter nemaline myopathy 2
c.11077-7_11077-5dup Single submitter
c.11289+15del Single submitter nemaline myopathy 2
c.11290-3del Single submitter nemaline myopathy 2
c.1153-10dup Single submitter nemaline myopathy 2
c.12640-11dup Single submitter nemaline myopathy 2
c.12640-4A>G Single submitter nemaline myopathy 2
c.13264-13dup Single submitter nemaline myopathy 2
c.13264-6dup Single submitter nemaline myopathy 2
c.13788+15del Single submitter nemaline myopathy 2
c.1675-7dup Single submitter nemaline myopathy 2
c.16909-168C>T Single submitter nemaline myopathy 2
c.18156+17T>G Single submitter nemaline myopathy 2
c.18694-9del Single submitter nemaline myopathy 2
c.19206+18del Single submitter nemaline myopathy 2
c.19206+18dup Single submitter nemaline myopathy 2
c.19732-15del Single submitter nemaline myopathy 2
c.19837-12T>C Single submitter nemaline myopathy 2
c.20998-13dup Single submitter nemaline myopathy 2
c.21208-5del Single submitter nemaline myopathy 2
c.21208-5dup Single submitter nemaline myopathy 2
c.21523-11dup Single submitter nemaline myopathy 2
c.21735+7_21735+10dup Single submitter nemaline myopathy 2
c.22162-108C>T Single submitter nemaline myopathy 2
c.22272+9del Single submitter nemaline myopathy 2
c.22591-12dup Single submitter nemaline myopathy 2
c.22905+13_22905+14dup Single submitter nemaline myopathy 2
c.22905+14dup Single submitter nemaline myopathy 2
c.22906-19T>G Single submitter nemaline myopathy 2
c.23242-50_23242-47dup Single submitter
c.23451+10del Single submitter nemaline myopathy 2
c.23451+14A>C Single submitter nemaline myopathy 2
c.24114+11dup Single submitter nemaline myopathy 2
c.24114+18dup Single submitter nemaline myopathy 2
c.24487-12G>T Single submitter nemaline myopathy 2
c.24672+7dup Single submitter nemaline myopathy 2
c.24673-12del Single submitter nemaline myopathy 2
c.2523+20C>G Single submitter nemaline myopathy 2
c.25298-11dup Single submitter nemaline myopathy 2
c.25298-4del Single submitter nemaline myopathy 2
c.25298-4dup Single submitter nemaline myopathy 2
c.2836-3del Single submitter nemaline myopathy 2
c.3043-10del Single submitter nemaline myopathy 2
c.3043-16dup Single submitter nemaline myopathy 2
c.36+19del Single submitter nemaline myopathy 2
c.36+19dup Single submitter nemaline myopathy 2
c.3774+15del Single submitter nemaline myopathy 2
c.4612-5dup Single submitter nemaline myopathy 2
c.5763+281G>A Single submitter nemaline myopathy 2
c.613-8dup Single submitter nemaline myopathy 2
c.6703-13del Single submitter nemaline myopathy 2
c.6703-13dup Single submitter nemaline myopathy 2
c.6807+10T>C Single submitter nemaline myopathy 2
c.6808-4del Single submitter nemaline myopathy 2
c.6808-7dup Single submitter nemaline myopathy 2
c.7645-14dup Single submitter nemaline myopathy 2
c.7645-7del Single submitter nemaline myopathy 2
c.7957-152C>T Single submitter nemaline myopathy 2
c.8161-118A>T Single submitter nemaline myopathy 2
c.822+25_822+27dup Single submitter
c.823-5del Single submitter nemaline myopathy 2
c.823-5dup Single submitter nemaline myopathy 2
c.8995-14del Single submitter nemaline myopathy 2
c.8995-14dup Single submitter nemaline myopathy 2
c.9415-12del Single submitter nemaline myopathy 2
p.Ala1083Val Single submitter nemaline myopathy 2
p.Ala2505= Single submitter nemaline myopathy 2
p.Ala3212= Single submitter nemaline myopathy 2
p.Ala3926= Single submitter nemaline myopathy 2
p.Arg1298Trp Single submitter nemaline myopathy 2
p.Arg5607Gln Single submitter nemaline myopathy 2
p.Arg6442= Single submitter nemaline myopathy 2
p.Asn1914= Single submitter nemaline myopathy 2
p.Asn222= Single submitter nemaline myopathy 2
p.Asn3005Lys Single submitter nemaline myopathy 2
p.Asn7063= Single submitter nemaline myopathy 2
p.Asn7730Ser Single submitter nemaline myopathy 2
p.Asp2947= Single submitter nemaline myopathy 2
p.Asp305= Single submitter nemaline myopathy 2
p.Asp3759= Single submitter nemaline myopathy 2
p.Asp5712Gly Single submitter nemaline myopathy 2
p.Asp7678Glu Single submitter nemaline myopathy 2 ⚠
p.Cys7119Tyr Single submitter nemaline myopathy 2
p.Gln1494Arg Single submitter nemaline myopathy 2
p.Gln2696= Single submitter nemaline myopathy 2
p.Gly1446= Single submitter nemaline myopathy 2
p.Gly1448Arg Single submitter nemaline myopathy 2
p.Gly1795= Single submitter nemaline myopathy 2
p.Gly4965Arg Single submitter
p.Gly7134= Single submitter nemaline myopathy 2
p.Gly8404= Single submitter nemaline myopathy 2
p.His1026Tyr Single submitter nemaline myopathy 2
p.His2207= Single submitter nemaline myopathy 2
p.Ile157Val Single submitter nemaline myopathy 2
p.Ile1935= Single submitter nemaline myopathy 2
p.Leu1030= Single submitter nemaline myopathy 2
p.Leu1311= Single submitter nemaline myopathy 2
p.Leu3486= Single submitter nemaline myopathy 2
p.Leu7361= Single submitter nemaline myopathy 2
p.Lys2974= Single submitter nemaline myopathy 2
p.Lys7108Ile Single submitter nemaline myopathy 2
p.Lys715= Single submitter nemaline myopathy 2
p.Lys7234= Single submitter nemaline myopathy 2
p.Lys7504= Single submitter nemaline myopathy 2
p.Pro541Arg Single submitter nemaline myopathy 2
p.Ser164= Single submitter nemaline myopathy 2
p.Ser367= Single submitter nemaline myopathy 2
p.Ser613= Single submitter nemaline myopathy 2
p.Ser6718= Single submitter nemaline myopathy 2
p.Thr1971= Single submitter nemaline myopathy 2
p.Thr6336= Single submitter nemaline myopathy 2
p.Thr6774= Single submitter nemaline myopathy 2
p.Thr7165= Single submitter nemaline myopathy 2
p.Thr8204= Single submitter nemaline myopathy 2
p.Tyr1088= Single submitter nemaline myopathy 2
p.Tyr1168= Single submitter nemaline myopathy 2
p.Tyr8505= Single submitter nemaline myopathy 2
p.Tyr893= Single submitter nemaline myopathy 2
p.Val7378= Single submitter nemaline myopathy 2
p.Val742= Single submitter nemaline myopathy 2

Benign/Likely benign 131

c.10347+18A>G Multiple submitters nemaline myopathy 2
c.1035+16C>A Multiple submitters nemaline myopathy 2
c.11077-19T>C Multiple submitters nemaline myopathy 2
c.11077-20_11077-19insC Multiple submitters nemaline myopathy 2
c.11077-4G>T Multiple submitters nemaline myopathy 2
c.11077-5del Multiple submitters
c.11911-17T>C Multiple submitters nemaline myopathy 2
c.1257+13A>T Multiple submitters nemaline myopathy 2
c.13368+11A>G Multiple submitters nemaline myopathy 2
c.14934+16_14934+17insG Multiple submitters
c.16284+6A>G Multiple submitters
c.1675-9T>G Multiple submitters nemaline myopathy 2
c.17635-3del Multiple submitters nemaline myopathy 2
c.17635-3dup Multiple submitters nemaline myopathy 2
c.17635-4_17635-3dup Multiple submitters nemaline myopathy 2
c.1897-16A>G Multiple submitters nemaline myopathy 2
c.18997-10T>C Multiple submitters nemaline myopathy 2
c.19102-6C>T Multiple submitters nemaline myopathy 2
c.19732-6C>T Multiple submitters nemaline myopathy 2
c.20263-7dup Multiple submitters nemaline myopathy 2
c.20367+16G>C Multiple submitters nemaline myopathy 2
c.20467-4del Multiple submitters nemaline myopathy
c.20467-4dup Multiple submitters nemaline myopathy 2
c.20467-4T>A Multiple submitters nemaline myopathy 2
c.20467-5_20467-4dup Multiple submitters
c.20682+13G>A Multiple submitters nemaline myopathy 2
c.20893-11dup Multiple submitters nemaline myopathy 2
c.22050+13C>T Multiple submitters nemaline myopathy 2
c.23128-19del Multiple submitters nemaline myopathy 2
c.23128-19dup Multiple submitters nemaline myopathy 2
c.23241+16C>T Multiple submitters nemaline myopathy 2
c.23346+13G>A Multiple submitters nemaline myopathy 2
c.24207+17G>C Multiple submitters nemaline myopathy 2
c.24208-7C>T Multiple submitters nemaline myopathy 2
c.2524-15G>T Multiple submitters nemaline myopathy 2
c.2637+17A>G Multiple submitters nemaline myopathy 2
c.3147+5G>A Multiple submitters nemaline myopathy 2
c.3987+11A>T Multiple submitters nemaline myopathy 2
c.4720-18C>T Multiple submitters nemaline myopathy 2
c.5032-13del Multiple submitters nemaline myopathy 2
c.5032-13dup Multiple submitters nemaline myopathy 2
c.5032-15T>C Multiple submitters nemaline myopathy 2
c.612+15C>T Multiple submitters nemaline myopathy 2
c.612+8T>C Multiple submitters nemaline myopathy 2
c.8373+13G>A Multiple submitters nemaline myopathy 2
c.8890-6dup Multiple submitters nemaline myopathy 2
c.8994+16_8994+17del Multiple submitters nemaline myopathy 2
c.9723+7G>A Multiple submitters nemaline myopathy 2
p.Ala2505Glu Multiple submitters nemaline myopathy 2
p.Ala3024= Multiple submitters nemaline myopathy 2
p.Ala4223Thr Multiple submitters nemaline myopathy 2
p.Ala4451= Multiple submitters nemaline myopathy 2
p.Ala5423= Multiple submitters
p.Ala5484Thr Multiple submitters nemaline myopathy 2
p.Ala5683= Multiple submitters nemaline myopathy 2
p.Ala5840= Multiple submitters nemaline myopathy 2
p.Ala6231= Multiple submitters nemaline myopathy 2
p.Ala6429Asp Multiple submitters arthrogryposis multiplex congenita 6
p.Ala6429Thr Multiple submitters arthrogryposis multiplex congenita 6
p.Arg1856Gln Multiple submitters nemaline myopathy 2
p.Arg2437Gln Multiple submitters nemaline myopathy 2
p.Arg2773Gln Multiple submitters nemaline myopathy 2
p.Arg6177= Multiple submitters nemaline myopathy 2
p.Arg6287= Multiple submitters nemaline myopathy 2
p.Arg880= Multiple submitters nemaline myopathy 2
p.Asn1116= Multiple submitters nemaline myopathy 2
p.Asn4912Asp Multiple submitters
p.Asn5274Ile Multiple submitters
p.Asn5596= Multiple submitters nemaline myopathy 2
p.Asn6038Ser Multiple submitters nemaline myopathy 2
p.Asp1212= Multiple submitters nemaline myopathy 2
p.Asp1267= Multiple submitters nemaline myopathy 2
p.Asp3018Asn Multiple submitters arthrogryposis multiplex congenita 6
p.Asp305Gly Multiple submitters nemaline myopathy 2
p.Asp3910Gly Multiple submitters nemaline myopathy 2
p.Asp4492= Multiple submitters nemaline myopathy 2
p.Asp6459= Multiple submitters nemaline myopathy 2
p.Asp825= Multiple submitters nemaline myopathy 2
p.Gln6432Arg Multiple submitters nemaline myopathy 2
p.Gln6935= Multiple submitters nemaline myopathy 2
p.Gln8387= Multiple submitters nemaline myopathy 2
p.Glu1990Lys Multiple submitters nemaline myopathy 2
p.Gly1934= Multiple submitters nemaline myopathy 2
p.Gly6697Arg Multiple submitters nemaline myopathy 2 ⚠
p.His1991Tyr Multiple submitters nemaline myopathy 2
p.His2822= Multiple submitters nemaline myopathy 2
p.His5060Arg Multiple submitters
p.Ile2058Phe Multiple submitters nemaline myopathy 2
p.Ile2779Val Multiple submitters nemaline myopathy 2
p.Ile3156Asn Multiple submitters nemaline myopathy 2
p.Ile5557Val Multiple submitters arthrogryposis multiplex congenita 6
p.Ile6555= Multiple submitters nemaline myopathy 2
p.Leu4855= Multiple submitters
p.Leu5341= Multiple submitters
p.Leu5974= Multiple submitters nemaline myopathy 2
p.Leu7476= Multiple submitters nemaline myopathy 2
p.Leu868= Multiple submitters nemaline myopathy 2
p.Leu868Pro Multiple submitters arthrogryposis multiplex congenita 6
p.Lys2053= Multiple submitters nemaline myopathy 2
p.Lys2613Asn Multiple submitters arthrogryposis multiplex congenita 6
p.Lys288Arg Multiple submitters nemaline myopathy 2
p.Lys4049= Multiple submitters nemaline myopathy 2
p.Lys4543Thr Multiple submitters nemaline myopathy 2
p.Lys5029Thr Multiple submitters
p.Lys5916Arg Multiple submitters arthrogryposis multiplex congenita 6
p.Lys6185= Multiple submitters nemaline myopathy 2
p.Lys619Arg Multiple submitters nemaline myopathy 2
p.Lys7321= Multiple submitters nemaline myopathy 2
p.Lys781= Multiple submitters nemaline myopathy 2
p.Met2023Ile Multiple submitters nemaline myopathy 2
p.Met3716Ile Multiple submitters nemaline myopathy 2
p.Phe471= Multiple submitters nemaline myopathy 2
p.Pro1276Thr Multiple submitters nemaline myopathy 2
p.Pro225= Multiple submitters nemaline myopathy 2
p.Pro260= Multiple submitters nemaline myopathy 2
p.Pro3423= Multiple submitters nemaline myopathy 2
p.Pro8019Leu Multiple submitters nemaline myopathy 2
p.Ser2881= Multiple submitters nemaline myopathy 2
p.Ser4972Thr Multiple submitters
p.Ser7015Cys Multiple submitters nemaline myopathy 2
p.Ser7794Leu Multiple submitters nemaline myopathy 2
p.Ser8465= Multiple submitters nemaline myopathy 2
p.Ser944= Multiple submitters nemaline myopathy 2
p.Thr3118= Multiple submitters nemaline myopathy 2
p.Thr6693Ile Multiple submitters Inborn genetic diseases
p.Thr7832Ile Multiple submitters nemaline myopathy 2
p.Thr7837= Multiple submitters nemaline myopathy 2
p.Tyr1064Cys Multiple submitters nemaline myopathy 2
p.Tyr6098= Multiple submitters arthrogryposis multiplex congenita 6
p.Val1213= Multiple submitters nemaline myopathy 2
p.Val5963Ile Multiple submitters nemaline myopathy 2

Likely benign 5488

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

p.Arg3781Trp Expert panel nemaline myopathy
p.Asn3689= Expert panel nemaline myopathy
p.Lys8488Arg Expert panel nemaline myopathy
p.Tyr6155Ser Expert panel nemaline myopathy
c.10144-15G>A Multiple submitters nemaline myopathy 2
c.10144-4C>G Multiple submitters nemaline myopathy 2
c.10873-14C>G Multiple submitters nemaline myopathy 2
c.1152+15G>A Multiple submitters nemaline myopathy 2
c.11806-7C>A Multiple submitters nemaline myopathy 2
c.1257+19A>G Multiple submitters nemaline myopathy 2
c.12639+11C>T Multiple submitters nemaline myopathy 2
c.13264-18G>A Multiple submitters nemaline myopathy 2
c.13476+16_13476+17insG Multiple submitters nemaline myopathy 2
c.13477-9A>G Multiple submitters nemaline myopathy 2
c.1366-12T>G Multiple submitters nemaline myopathy 2
c.13788+12C>G Multiple submitters nemaline myopathy 2
c.13788+18G>A Multiple submitters nemaline myopathy 2
c.14826+11G>A Multiple submitters
c.14827-14CT[2] Multiple submitters arthrogryposis multiplex congenita 6
c.15246+12C>G Multiple submitters
c.1675-4C>G Multiple submitters arthrogryposis multiplex congenita 6
c.17013+13A>G Multiple submitters nemaline myopathy 2
c.17536-17T>C Multiple submitters nemaline myopathy 2
c.18157-19T>C Multiple submitters nemaline myopathy 2
c.18157-20A>G Multiple submitters nemaline myopathy 2
c.18262-12G>A Multiple submitters nemaline myopathy 2
c.18366+15T>G Multiple submitters nemaline myopathy 2
c.18471+20A>G Multiple submitters nemaline myopathy 2
c.18472-4C>G Multiple submitters nemaline myopathy 2
c.18579+6T>C Multiple submitters nemaline myopathy 2
c.18694-9dup Multiple submitters nemaline myopathy 2
c.18891+17G>A Multiple submitters nemaline myopathy 2
c.18892-19T>C Multiple submitters nemaline myopathy 2
c.19102-15G>A Multiple submitters nemaline myopathy 2
c.19206+18T>C Multiple submitters nemaline myopathy 2
c.19206+46C>A Multiple submitters
c.19428+14T>A Multiple submitters nemaline myopathy 2
c.19428+16C>T Multiple submitters nemaline myopathy 2
c.19428+8C>T Multiple submitters nemaline myopathy 2
c.19732-8C>T Multiple submitters nemaline myopathy 2
c.19836+10C>G Multiple submitters nemaline myopathy 2
c.19944+14A>T Multiple submitters nemaline myopathy 2
c.19944+3G>A Multiple submitters nemaline myopathy 2
c.20263-18G>A Multiple submitters nemaline myopathy 2
c.20368-17C>T Multiple submitters nemaline myopathy 2
c.20467-2dup Multiple submitters nemaline myopathy 2
c.20893-11T>C Multiple submitters nemaline myopathy 2
c.20893-20T>C Multiple submitters nemaline myopathy 2
c.20998-7A>C Multiple submitters nemaline myopathy 2
c.2106+11del Multiple submitters nemaline myopathy 2
c.21208-11G>A Multiple submitters nemaline myopathy 2
c.21630+7A>G Multiple submitters nemaline myopathy 2
c.21631-14_21631-13del Multiple submitters nemaline myopathy 2
c.21736-19TC[2] Multiple submitters nemaline myopathy 2
c.21945+13T>C Multiple submitters nemaline myopathy 2
c.21945+16C>G Multiple submitters nemaline myopathy 2
c.22050+14G>A Multiple submitters nemaline myopathy 2
c.22050+20G>A Multiple submitters nemaline myopathy 2
c.2211+19A>G Multiple submitters nemaline myopathy 2
c.22273-10C>T Multiple submitters nemaline myopathy 2
c.22374+20G>C Multiple submitters nemaline myopathy 2
c.22591-6A>G Multiple submitters nemaline myopathy 2
c.22801-18A>G Multiple submitters nemaline myopathy 2
c.23017-21T>C Multiple submitters
c.23127+10C>T Multiple submitters nemaline myopathy 2
c.23242-15G>A Multiple submitters nemaline myopathy 2
c.23242-16C>T Multiple submitters nemaline myopathy 2
c.23347-13A>G Multiple submitters nemaline myopathy 2
c.23742+11T>C Multiple submitters nemaline myopathy 2
c.23835+14T>G Multiple submitters nemaline myopathy 2
c.23836-9_23836-6dup Multiple submitters nemaline myopathy 2
c.23929-45A>G Multiple submitters
c.23940+17_23940+21del Multiple submitters nemaline myopathy 2
c.24208-10T>C Multiple submitters nemaline myopathy 2
c.24301-19T>A Multiple submitters nemaline myopathy 2
c.24393+19A>G Multiple submitters nemaline myopathy 2
c.24487-20G>T Multiple submitters nemaline myopathy 2
c.24673-20T>C Multiple submitters nemaline myopathy 2
c.24873+20G>A Multiple submitters nemaline myopathy 2
c.2523+10_2523+17del Multiple submitters nemaline myopathy 2
c.25298-16G>T Multiple submitters nemaline myopathy 2
c.25405-10C>T Multiple submitters nemaline myopathy 2
c.25405-7C>T Multiple submitters nemaline myopathy 2
c.295-19T>C Multiple submitters nemaline myopathy 2
c.3043-16T>A Multiple submitters nemaline myopathy 2
c.3147+18C>T Multiple submitters nemaline myopathy 2
c.3775-18A>G Multiple submitters nemaline myopathy 2
c.3988-15A>G Multiple submitters nemaline myopathy 2
c.4299+9G>A Multiple submitters nemaline myopathy 2
c.4507-17G>A Multiple submitters nemaline myopathy 2
c.5031+4T>C Multiple submitters nemaline myopathy 2
c.5452-4A>G Multiple submitters nemaline myopathy 2
c.5971-6T>C Multiple submitters nemaline myopathy 2
c.6183+17C>T Multiple submitters nemaline myopathy 2
c.6496-17G>C Multiple submitters nemaline myopathy 2
c.6808-4T>C Multiple submitters nemaline myopathy 2
c.717+17T>C Multiple submitters nemaline myopathy 2
c.7228-20C>T Multiple submitters nemaline myopathy 2
c.7228-7T>C Multiple submitters nemaline myopathy 2
c.7644+18G>C Multiple submitters nemaline myopathy 2
c.7644+25T>C Multiple submitters
c.78+18G>C Multiple submitters nemaline myopathy 2
c.8161-4T>G Multiple submitters nemaline myopathy 2
c.822+13A>G Multiple submitters nemaline myopathy 2
c.8266-20A>C Multiple submitters nemaline myopathy 2
c.8373+16A>G Multiple submitters nemaline myopathy 2
c.8890-18G>A Multiple submitters nemaline myopathy 2
c.8995-20T>A Multiple submitters nemaline myopathy 2
c.927+14G>A Multiple submitters nemaline myopathy 2
c.928-10T>C Multiple submitters nemaline myopathy 2
c.9619-14A>G Multiple submitters nemaline myopathy 2
c.9619-20C>T Multiple submitters nemaline myopathy 2
c.9619-9C>T Multiple submitters nemaline myopathy 2
p.Ala1219= Multiple submitters nemaline myopathy 2
p.Ala1532= Multiple submitters nemaline myopathy 2
p.Ala1707= Multiple submitters nemaline myopathy 2
p.Ala2= Multiple submitters nemaline myopathy 2
p.Ala2229= Multiple submitters nemaline myopathy 2
p.Ala3733= Multiple submitters nemaline myopathy 2
p.Ala3989= Multiple submitters nemaline myopathy 2
p.Ala4937= Multiple submitters
p.Ala6004= Multiple submitters nemaline myopathy 2
p.Ala6642= Multiple submitters nemaline myopathy 2
p.Ala7341= Multiple submitters Inborn genetic diseases
p.Ala8246= Multiple submitters nemaline myopathy 2
p.Arg2300= Multiple submitters nemaline myopathy 2
p.Arg2556= Multiple submitters nemaline myopathy 2
p.Arg3903= Multiple submitters nemaline myopathy 2
p.Arg5593= Multiple submitters nemaline myopathy 2
p.Arg6466= Multiple submitters nemaline myopathy 2
p.Arg8059= Multiple submitters nemaline myopathy 2
p.Arg8183= Multiple submitters nemaline myopathy 2
p.Asn1989= Multiple submitters nemaline myopathy 2
p.Asn3853= Multiple submitters nemaline myopathy 2
p.Asn4339= Multiple submitters nemaline myopathy 2
p.Asn4936Ser Multiple submitters
p.Asn5510= Multiple submitters
p.Asn629= Multiple submitters nemaline myopathy 2
p.Asn7245= Multiple submitters nemaline myopathy 2
p.Asn7302= Multiple submitters nemaline myopathy 2
p.Asp1091Tyr Multiple submitters nemaline myopathy 2
p.Asp1173= Multiple submitters nemaline myopathy 2
p.Asp1417= Multiple submitters nemaline myopathy 2
p.Asp142= Multiple submitters nemaline myopathy 2
p.Asp1465Asn Multiple submitters Inborn genetic diseases
p.Asp151= Multiple submitters nemaline myopathy 2
p.Asp2301= Multiple submitters nemaline myopathy 2
p.Asp2621= Multiple submitters nemaline myopathy 2
p.Asp3018= Multiple submitters nemaline myopathy 2
p.Asp3160= Multiple submitters nemaline myopathy 2
p.Asp3459= Multiple submitters nemaline myopathy 2
p.Asp3659= Multiple submitters nemaline myopathy 2
p.Asp4106Asn Multiple submitters nemaline myopathy 2
p.Asp4110= Multiple submitters
p.Asp4322= Multiple submitters nemaline myopathy 2
p.Asp4349= Multiple submitters nemaline myopathy 2
p.Asp465= Multiple submitters nemaline myopathy 2
p.Asp4978= Multiple submitters
p.Asp5398Asn Multiple submitters
p.Asp5944= Multiple submitters nemaline myopathy 2
p.Asp6021= Multiple submitters nemaline myopathy 2
p.Asp658= Multiple submitters nemaline myopathy 2
p.Asp6785= Multiple submitters nemaline myopathy 2
p.Asp6986= Multiple submitters nemaline myopathy 2
p.Asp6995= Multiple submitters nemaline myopathy 2
p.Asp7174= Multiple submitters nemaline myopathy 2
p.Asp7238Asn Multiple submitters nemaline myopathy 2
p.Asp863= Multiple submitters Inborn genetic diseases
p.Cys2876= Multiple submitters nemaline myopathy 2
p.Gln2097= Multiple submitters nemaline myopathy 2
p.Gln3234= Multiple submitters nemaline myopathy 2
p.Gln7113= Multiple submitters nemaline myopathy 2
p.Gln7630= Multiple submitters nemaline myopathy 2
p.Glu3116Lys Multiple submitters nemaline myopathy 2
p.Glu478= Multiple submitters nemaline myopathy 2
p.Glu5954= Multiple submitters nemaline myopathy 2
p.Glu6127= Multiple submitters nemaline myopathy 2
p.Gly1312= Multiple submitters nemaline myopathy 2
p.Gly2073= Multiple submitters nemaline myopathy 2
p.Gly3289= Multiple submitters nemaline myopathy 2
p.Gly4372= Multiple submitters nemaline myopathy 2
p.Gly7188= Multiple submitters nemaline myopathy 2
p.Gly8303= Multiple submitters nemaline myopathy 2
p.His1475= Multiple submitters nemaline myopathy 2
p.His2688= Multiple submitters nemaline myopathy 2
p.His3115= Multiple submitters nemaline myopathy 2
p.His3551= Multiple submitters nemaline myopathy 2
p.His3950= Multiple submitters nemaline myopathy 2
p.His6428= Multiple submitters nemaline myopathy 2
p.His6519= Multiple submitters nemaline myopathy 2
p.His6909= Multiple submitters nemaline myopathy 2
p.His7193= Multiple submitters nemaline myopathy 2
p.Ile1691= Multiple submitters nemaline myopathy 2
p.Ile3156= Multiple submitters nemaline myopathy 2
p.Ile4410= Multiple submitters nemaline myopathy 2
p.Ile8020Val Multiple submitters nemaline myopathy 2
p.Leu1059= Multiple submitters nemaline myopathy 2
p.Leu1911= Multiple submitters nemaline myopathy 2
p.Leu2015= Multiple submitters nemaline myopathy 2
p.Leu2187= Multiple submitters nemaline myopathy 2
p.Leu3015Ser Multiple submitters nemaline myopathy 2
p.Leu3391= Multiple submitters nemaline myopathy 2
p.Leu3474= Multiple submitters nemaline myopathy 2
p.Leu4369= Multiple submitters nemaline myopathy 2
p.Leu4593= Multiple submitters nemaline myopathy 2
p.Leu4929= Multiple submitters
p.Leu4959= Multiple submitters
p.Leu5661= Multiple submitters nemaline myopathy 2
p.Leu7101= Multiple submitters nemaline myopathy 2
p.Leu7129= Multiple submitters nemaline myopathy 2
p.Leu7952= Multiple submitters nemaline myopathy 2
p.Lys1306= Multiple submitters nemaline myopathy 2
p.Lys1792= Multiple submitters nemaline myopathy 2
p.Lys2833= Multiple submitters nemaline myopathy 2
p.Lys2941= Multiple submitters nemaline myopathy 2
p.Lys3076= Multiple submitters nemaline myopathy 2
p.Lys3184= Multiple submitters nemaline myopathy 2
p.Lys484= Multiple submitters nemaline myopathy 2
p.Lys571= Multiple submitters nemaline myopathy 2
p.Lys64= Multiple submitters nemaline myopathy 2
p.Lys6982= Multiple submitters nemaline myopathy 2
p.Lys7170= Multiple submitters nemaline myopathy 2
p.Met685Val Multiple submitters nemaline myopathy 2
p.Phe6805= Multiple submitters nemaline myopathy 2
p.Phe8036= Multiple submitters nemaline myopathy 2
p.Phe993= Multiple submitters nemaline myopathy 2
p.Pro1904= Multiple submitters nemaline myopathy 2
p.Pro2635= Multiple submitters nemaline myopathy 2
p.Pro2878= Multiple submitters nemaline myopathy 2
p.Pro3678= Multiple submitters nemaline myopathy 2
p.Pro4407= Multiple submitters nemaline myopathy 2
p.Pro4790= Multiple submitters
p.Pro6737= Multiple submitters nemaline myopathy 2
p.Pro7733= Multiple submitters nemaline myopathy 2
p.Pro8148= Multiple submitters nemaline myopathy 2
p.Pro8236= Multiple submitters nemaline myopathy 2
p.Ser1865= Multiple submitters nemaline myopathy 2
p.Ser1908= Multiple submitters nemaline myopathy 2
p.Ser1956= Multiple submitters nemaline myopathy 2
p.Ser2439= Multiple submitters nemaline myopathy 2
p.Ser2620= Multiple submitters nemaline myopathy 2
p.Ser2705= Multiple submitters nemaline myopathy 2
p.Ser3017= Multiple submitters nemaline myopathy 2
p.Ser3349= Multiple submitters nemaline myopathy 2
p.Ser4352= Multiple submitters nemaline myopathy 2
p.Ser4511= Multiple submitters nemaline myopathy 2
p.Ser4838= Multiple submitters
p.Ser5809= Multiple submitters nemaline myopathy 2
p.Ser5832= Multiple submitters nemaline myopathy 2
p.Ser593= Multiple submitters nemaline myopathy 2
p.Ser7089Cys Multiple submitters Inborn genetic diseases
p.Ser8363= Multiple submitters nemaline myopathy 2
p.Ser8398= Multiple submitters nemaline myopathy 2
p.Ser840= Multiple submitters nemaline myopathy 2
p.Ser995= Multiple submitters nemaline myopathy 2
p.Thr108Ala Multiple submitters Inborn genetic diseases
p.Thr1478= Multiple submitters nemaline myopathy 2
p.Thr199= Multiple submitters nemaline myopathy 2
p.Thr2632= Multiple submitters nemaline myopathy 2
p.Thr2875= Multiple submitters nemaline myopathy 2
p.Thr2925= Multiple submitters nemaline myopathy 2
p.Thr450= Multiple submitters nemaline myopathy 2
p.Thr5858= Multiple submitters nemaline myopathy 2
p.Thr6137= Multiple submitters nemaline myopathy 2
p.Thr6173= Multiple submitters nemaline myopathy 2
p.Thr6352= Multiple submitters nemaline myopathy 2
p.Thr6415= Multiple submitters nemaline myopathy 2
p.Thr6631= Multiple submitters nemaline myopathy 2
p.Thr6855= Multiple submitters nemaline myopathy 2
p.Thr7303Met Multiple submitters Inborn genetic diseases
p.Thr7368= Multiple submitters nemaline myopathy 2
p.Thr7657= Multiple submitters nemaline myopathy 2
p.Thr7863= Multiple submitters nemaline myopathy 2
p.Thr7908= Multiple submitters nemaline myopathy 2
p.Tyr1749= Multiple submitters nemaline myopathy 2
p.Tyr2106= Multiple submitters nemaline myopathy 2
p.Tyr2589= Multiple submitters nemaline myopathy 2
p.Tyr2624= Multiple submitters nemaline myopathy 2
p.Tyr3110= Multiple submitters nemaline myopathy 2
p.Tyr352= Multiple submitters nemaline myopathy 2
p.Tyr5571= Multiple submitters nemaline myopathy 2
p.Tyr601= Multiple submitters nemaline myopathy 2
p.Tyr6313= Multiple submitters nemaline myopathy 2
p.Tyr6370= Multiple submitters nemaline myopathy 2
p.Tyr6558= Multiple submitters nemaline myopathy 2
p.Tyr6782= Multiple submitters nemaline myopathy 2
p.Tyr85= Multiple submitters nemaline myopathy 2
p.Val1399= Multiple submitters nemaline myopathy 2
p.Val2852= Multiple submitters nemaline myopathy 2
p.Val3161= Multiple submitters nemaline myopathy 2
p.Val3681= Multiple submitters nemaline myopathy 2
p.Val4161= Multiple submitters nemaline myopathy 2
p.Val4376= Multiple submitters nemaline myopathy 2
p.Val4647= Multiple submitters
p.Val5523= Multiple submitters
p.Val7122= Multiple submitters nemaline myopathy 2
c.10143+13G>A Single submitter nemaline myopathy 2
c.10143+16C>T Single submitter nemaline myopathy 2
c.10143+18A>G Single submitter nemaline myopathy 2
c.10143+18A>T Single submitter nemaline myopathy 2

Uncertain significance 3313

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

c.12639+2dup Expert panel nemaline myopathy
c.22590+2T>C Expert panel nemaline myopathy
p.Ala339fs Expert panel nemaline myopathy
c.10347+3G>A Multiple submitters nemaline myopathy 2
c.10452+3A>G Multiple submitters nemaline myopathy 2
c.1152+5G>A Multiple submitters nemaline myopathy
c.12330+4C>T Multiple submitters nemaline myopathy 2
c.1365+5G>T Multiple submitters nemaline myopathy 2
c.17634+5G>A Multiple submitters
c.1782+4_1782+5del Multiple submitters nemaline myopathy 2
c.18694-3T>C Multiple submitters nemaline myopathy 2
c.18694-6_18694-2del Multiple submitters arthrogryposis multiplex congenita 6
c.19101+4C>T Multiple submitters nemaline myopathy 2
c.19102-10_19102-4del Multiple submitters nemaline myopathy 2
c.1998+5G>A Multiple submitters nemaline myopathy 2
c.20262+3G>A Multiple submitters nemaline myopathy 2
c.20577+6G>A Multiple submitters nemaline myopathy 2
c.21102+5G>A Multiple submitters nemaline myopathy 2
c.21312+5G>A Multiple submitters nemaline myopathy 2
c.21313-7T>A Multiple submitters nemaline myopathy 2
c.22051-3C>A Multiple submitters nemaline myopathy 2
c.22591-3C>T Multiple submitters nemaline myopathy 2
c.23346+5G>A Multiple submitters nemaline myopathy 2
c.23557-3C>G Multiple submitters nemaline myopathy 2
c.23928+4T>C Multiple submitters nemaline myopathy 2
c.2415+6T>C Multiple submitters nemaline myopathy 2
c.24208-7C>A Multiple submitters nemaline myopathy 2
c.25150+3G>A Multiple submitters nemaline myopathy 2
c.2523+6T>C Multiple submitters nemaline myopathy 2
c.36+4A>G Multiple submitters nemaline myopathy 2
c.3774+4A>C Multiple submitters nemaline myopathy 2
c.402+4_402+27del Multiple submitters nemaline myopathy 2
c.402+4G>A Multiple submitters nemaline myopathy 2
c.6075+3A>C Multiple submitters nemaline myopathy 2
c.6807+5A>G Multiple submitters nemaline myopathy 2
c.78+6G>A Multiple submitters nemaline myopathy 2
c.8265+3A>T Multiple submitters nemaline myopathy 2
c.8685+3G>A Multiple submitters nemaline myopathy 2
c.8685+4A>T Multiple submitters nemaline myopathy 2
c.-114+3A>G Multiple submitters arthrogryposis multiplex congenita 6
p.2063KY[1] Multiple submitters nemaline myopathy 2
p.52LAQPA[1] Multiple submitters nemaline myopathy 2
p.Ala1070Val Multiple submitters Inborn genetic diseases ⚠
p.Ala1075Val Multiple submitters nemaline myopathy 2 ⚠
p.Ala1335Thr Multiple submitters nemaline myopathy 2 ⚠
p.Ala1579Asp Multiple submitters nemaline myopathy 2 ⚠
p.Ala1807Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala1823Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala1906Val Multiple submitters Inborn genetic diseases ⚠
p.Ala236Pro Multiple submitters nemaline myopathy 2 ⚠
p.Ala2438Thr Multiple submitters nemaline myopathy 2
p.Ala251Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala2541Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala2643Gly Multiple submitters Inborn genetic diseases
p.Ala2808Ser Multiple submitters nemaline myopathy 2 ⚠
p.Ala3051Thr Multiple submitters nemaline myopathy 2
p.Ala3375Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala3411Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala3553Ser Multiple submitters nemaline myopathy 2 ⚠
p.Ala3687Val Multiple submitters nemaline myopathy ⚠
p.Ala3861Ser Multiple submitters nemaline myopathy 2 ⚠
p.Ala4004Thr Multiple submitters Inborn genetic diseases
p.Ala5597Gly Multiple submitters Inborn genetic diseases
p.Ala5597Thr Multiple submitters nemaline myopathy 2
p.Ala5683Thr Multiple submitters nemaline myopathy 2 ⚠
p.Ala579Ser Multiple submitters nemaline myopathy 2 ⚠
p.Ala5801Thr Multiple submitters nemaline myopathy 2
p.Ala6012Thr Multiple submitters nemaline myopathy 2
p.Ala6187Thr Multiple submitters Inborn genetic diseases
p.Ala6408Val Multiple submitters Inborn genetic diseases ⚠
p.Ala6910Ser Multiple submitters nemaline myopathy 2 ⚠
p.Ala7729Val Multiple submitters nemaline myopathy 2 ⚠
p.Ala8271Val Multiple submitters Inborn genetic diseases ⚠
p.Ala8414Thr Multiple submitters nemaline myopathy 2 ⚠
p.Ala8482Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala8519Thr Multiple submitters Inborn genetic diseases
p.Arg1124Gln Multiple submitters nemaline myopathy 2 ⚠
p.Arg1368Cys Multiple submitters nemaline myopathy 2
p.Arg1612Leu Multiple submitters nemaline myopathy 2
p.Arg1812Gly Multiple submitters nemaline myopathy 2 ⚠
p.Arg2323Trp Multiple submitters nemaline myopathy 2
p.Arg2556His Multiple submitters nemaline myopathy 2
p.Arg2556Leu Multiple submitters nemaline myopathy 2
p.Arg2566Gln Multiple submitters nemaline myopathy 2 ⚠
p.Arg2566Trp Multiple submitters Inborn genetic diseases
p.Arg2644Trp Multiple submitters Inborn genetic diseases
p.Arg2721Cys Multiple submitters nemaline myopathy 2
p.Arg2721Ser Multiple submitters nemaline myopathy 2
p.Arg2786Gly Multiple submitters Inborn genetic diseases
p.Arg2887Gln Multiple submitters nemaline myopathy 2
p.Arg2887Trp Multiple submitters nemaline myopathy 2
p.Arg2964Cys Multiple submitters nemaline myopathy 2
p.Arg2964His Multiple submitters nemaline myopathy 2
p.Arg301Asn Multiple submitters nemaline myopathy 2
p.Arg301Gly Multiple submitters Inborn genetic diseases
p.Arg3052Trp Multiple submitters nemaline myopathy 2
p.Arg3130Gln Multiple submitters nemaline myopathy 2
p.Arg3130Trp Multiple submitters nemaline myopathy 2
p.Arg3177Cys Multiple submitters nemaline myopathy 2
p.Arg3177His Multiple submitters nemaline myopathy 2
p.Arg3207Cys Multiple submitters nemaline myopathy 2 ⚠
p.Arg3207His Multiple submitters Inborn genetic diseases ⚠
p.Arg3207Ser Multiple submitters Inborn genetic diseases
p.Arg3285Cys Multiple submitters nemaline myopathy 2
p.Arg3285His Multiple submitters Inborn genetic diseases
p.Arg3295Gln Multiple submitters arthrogryposis multiplex congenita 6 ⚠
p.Arg3295Trp Multiple submitters nemaline myopathy 2
p.Arg3373Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg3392Lys Multiple submitters ⚠
p.Arg3420Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg3420His Multiple submitters Inborn genetic diseases ⚠
p.Arg3450Cys Multiple submitters nemaline myopathy 2
p.Arg3450His Multiple submitters nemaline myopathy 2 ⚠
p.Arg3538Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg3559His Multiple submitters nemaline myopathy 2
p.Arg3571Lys Multiple submitters nemaline myopathy 2 ⚠
p.Arg3616Gln Multiple submitters nemaline myopathy 2
p.Arg3616Trp Multiple submitters nemaline myopathy 2
p.Arg3652Lys Multiple submitters nemaline myopathy 2 ⚠
p.Arg3693Cys Multiple submitters arthrogryposis multiplex congenita 6
p.Arg3745Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg3745His Multiple submitters nemaline myopathy 2 ⚠
p.Arg3745Leu Multiple submitters nemaline myopathy 2 ⚠
p.Arg3771Leu Multiple submitters nemaline myopathy 2
p.Arg3781Gln Multiple submitters nemaline myopathy 2 ⚠
p.Arg3859Trp Multiple submitters Inborn genetic diseases
p.Arg4083Cys Multiple submitters nemaline myopathy 2
p.Arg4083His Multiple submitters Inborn genetic diseases ⚠
p.Arg5546Cys Multiple submitters arthrogryposis multiplex congenita 6
p.Arg5675Cys Multiple submitters nemaline myopathy 2
p.Arg5675Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg5688Trp Multiple submitters Inborn genetic diseases
p.Arg5701Gly Multiple submitters nemaline myopathy 2
p.Arg5733Cys Multiple submitters nemaline myopathy 2 ⚠
p.Arg5733Leu Multiple submitters nemaline myopathy 2 ⚠
p.Arg5783Cys Multiple submitters nemaline myopathy 2
p.Arg5849Cys Multiple submitters nemaline myopathy 2
p.Arg5849His Multiple submitters Inborn genetic diseases
p.Arg6025Cys Multiple submitters nemaline myopathy 2
p.Arg6063Gln Multiple submitters nemaline myopathy 2
p.Arg6442Trp Multiple submitters nemaline myopathy
p.Arg6469Pro Multiple submitters nemaline myopathy 2 ⚠
p.Arg6575Cys Multiple submitters Inborn genetic diseases
p.Arg6575Leu Multiple submitters nemaline myopathy 2 ⚠
p.Arg6656His Multiple submitters Inborn genetic diseases ⚠
p.Arg6819Gln Multiple submitters nemaline myopathy 2 ⚠
p.Arg7026Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg7373Trp Multiple submitters nemaline myopathy 2 ⚠
p.Arg7443Gln Multiple submitters nemaline myopathy 2
p.Arg7723Lys Multiple submitters nemaline myopathy 2 ⚠
p.Arg7935Gly Multiple submitters nemaline myopathy 2
p.Arg8186Cys Multiple submitters Inborn genetic diseases
p.Arg8248Cys Multiple submitters nemaline myopathy 2
p.Arg8263Gln Multiple submitters nemaline myopathy 2 ⚠
p.Arg8280Lys Multiple submitters nemaline myopathy 2 ⚠
p.Arg8281Gln Multiple submitters nemaline myopathy 2
p.Arg8330Gln Multiple submitters Inborn genetic diseases
p.Arg8355Cys Multiple submitters nemaline myopathy 2
p.Arg8355His Multiple submitters Inborn genetic diseases
p.Arg8389Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg880Cys Multiple submitters nemaline myopathy 2 ⚠
p.Arg880His Multiple submitters nemaline myopathy 2 ⚠
p.Arg974Leu Multiple submitters nemaline myopathy 2 ⚠
p.Asn1008Asp Multiple submitters nemaline myopathy 2 ⚠
p.Asn1198del Multiple submitters
p.Asn1376Ser Multiple submitters nemaline myopathy 2 ⚠
p.Asn1686Asp Multiple submitters nemaline myopathy 2 ⚠
p.Asn1686Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn2474Ser Multiple submitters nemaline myopathy 2 ⚠
p.Asn3382Lys Multiple submitters nemaline myopathy 2 ⚠
p.Asn355Asp Multiple submitters nemaline myopathy 2 ⚠
p.Asn4096Lys Multiple submitters nemaline myopathy 2
p.Asn5665Thr Multiple submitters nemaline myopathy 2
p.Asn5743Ser Multiple submitters nemaline myopathy 2 ⚠
p.Asn6373Tyr Multiple submitters nemaline myopathy 2
p.Asn7120His Multiple submitters nemaline myopathy 2
p.Asn7245Ser Multiple submitters nemaline myopathy 2 ⚠
p.Asn7558Tyr Multiple submitters nemaline myopathy 2 ⚠
p.Asn8128Asp Multiple submitters nemaline myopathy 2
p.Asn8328Ser Multiple submitters nemaline myopathy 2 ⚠
p.Asp1069Glu Multiple submitters Inborn genetic diseases
p.Asp1142Asn Multiple submitters nemaline myopathy 2
p.Asp1221Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp1433Ala Multiple submitters nemaline myopathy 2
p.Asp151Val Multiple submitters nemaline myopathy 2
p.Asp1557Gly Multiple submitters nemaline myopathy 2
p.Asp1839Asn Multiple submitters Inborn genetic diseases
p.Asp1921Tyr Multiple submitters Inborn genetic diseases
p.Asp2165Asn Multiple submitters nemaline myopathy 2 ⚠
p.Asp2240Gly Multiple submitters nemaline myopathy 2 ⚠
p.Asp2496Gly Multiple submitters nemaline myopathy 2
p.Asp2621Asn Multiple submitters nemaline myopathy 2 ⚠
p.Asp2829Asn Multiple submitters nemaline myopathy 2 ⚠
p.Asp2866Gly Multiple submitters nemaline myopathy 2
p.Asp2879Asn Multiple submitters nemaline myopathy 2
p.Asp2882Asn Multiple submitters nemaline myopathy 2
p.Asp2895Asn Multiple submitters nemaline myopathy 2
p.Asp3034Glu Multiple submitters nemaline myopathy 2
p.Asp3091Asn Multiple submitters nemaline myopathy 2
p.Asp3122Glu Multiple submitters nemaline myopathy 2
p.Asp3125Asn Multiple submitters nemaline myopathy 2
p.Asp3125Gly Multiple submitters nemaline myopathy 2
p.Asp3181Ala Multiple submitters nemaline myopathy 2
p.Asp3190Tyr Multiple submitters nemaline myopathy 2
p.Asp3365Asn Multiple submitters Inborn genetic diseases
p.Asp3381Asn Multiple submitters nemaline myopathy 2 ⚠
p.Asp3433Glu Multiple submitters nemaline myopathy 2
p.Asp3457Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp3542His Multiple submitters Inborn genetic diseases ⚠
p.Asp3608Asn Multiple submitters nemaline myopathy 2
p.Asp3620Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp3836Asn Multiple submitters nemaline myopathy 2 ⚠
p.Asp3851Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp3910Glu Multiple submitters nemaline myopathy 2 ⚠
p.Asp3919Gly Multiple submitters nemaline myopathy 2
p.Asp3Gly Multiple submitters nemaline myopathy ⚠
p.Asp4094His Multiple submitters nemaline myopathy 2
p.Asp4808Asn Multiple submitters arthrogryposis multiplex congenita 6
p.Asp4Glu Multiple submitters ⚠
p.Asp523= Multiple submitters nemaline myopathy 2
p.Asp5781His Multiple submitters Inborn genetic diseases ⚠
p.Asp5794Asn Multiple submitters Inborn genetic diseases
p.Asp5877Tyr Multiple submitters nemaline myopathy 2
p.Asp594Asn Multiple submitters nemaline myopathy 2 ⚠
p.Asp6141Val Multiple submitters Inborn genetic diseases
p.Asp6303Glu Multiple submitters Inborn genetic diseases
p.Asp671Glu Multiple submitters nemaline myopathy 2 ⚠
p.Asp671His Multiple submitters nemaline myopathy 2 ⚠
p.Asp6922Val Multiple submitters nemaline myopathy 2 ⚠
p.Asp712Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp712Val Multiple submitters Inborn genetic diseases ⚠
p.Asp7247His Multiple submitters Inborn genetic diseases
p.Asp7264His Multiple submitters nemaline myopathy 2
p.Asp7280= Multiple submitters nemaline myopathy 2
p.Asp7387His Multiple submitters Inborn genetic diseases
p.Asp7480Ala Multiple submitters nemaline myopathy 2
p.Asp7617Gly Multiple submitters nemaline myopathy 2 ⚠
p.Asp7879Glu Multiple submitters nemaline myopathy 2 ⚠
p.Asp789Gly Multiple submitters nemaline myopathy 2
p.Asp847Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp8483His Multiple submitters nemaline myopathy 2 ⚠
p.Asp8483Tyr Multiple submitters nemaline myopathy 2 ⚠
p.Asp945Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp945Tyr Multiple submitters nemaline myopathy 2
p.Cys3042His Multiple submitters nemaline myopathy 2
p.Cys4034Ser Multiple submitters nemaline myopathy 2 ⚠
p.Cys488Ser Multiple submitters Inborn genetic diseases
p.Cys5791Tyr Multiple submitters nemaline myopathy 2
p.Cys650Tyr Multiple submitters nemaline myopathy 2
p.Gln1365Leu Multiple submitters Inborn genetic diseases
p.Gln1718Leu Multiple submitters nemaline myopathy 2 ⚠
p.Gln1923Glu Multiple submitters nemaline myopathy 2 ⚠
p.Gln1982Pro Multiple submitters nemaline myopathy 2 ⚠
p.Gln2163Arg Multiple submitters nemaline myopathy 2
p.Gln2227Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln2387Arg Multiple submitters nemaline myopathy 2 ⚠
p.Gln3136Arg Multiple submitters nemaline myopathy 2
p.Gln3609Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln3664His Multiple submitters nemaline myopathy 2 ⚠
p.Gln4074Leu Multiple submitters nemaline myopathy 2
p.Gln515His Multiple submitters Inborn genetic diseases ⚠
p.Gln5759His Multiple submitters nemaline myopathy 2 ⚠
p.Gln6037Arg Multiple submitters Inborn genetic diseases
p.Gln6744Lys Multiple submitters nemaline myopathy 2
p.Gln7277Lys Multiple submitters nemaline myopathy 2
p.Gln8267Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln877Arg Multiple submitters Inborn genetic diseases ⚠
p.Glu1369Lys Multiple submitters nemaline myopathy 2
p.Glu1510Lys Multiple submitters nemaline myopathy 2
p.Glu1702Lys Multiple submitters nemaline myopathy 2 ⚠
p.Glu177Lys Multiple submitters nemaline myopathy 2
p.Glu1886Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu2791Ala Multiple submitters nemaline myopathy 2 ⚠
p.Glu2796Gly Multiple submitters nemaline myopathy 2 ⚠
p.Glu3193Gly Multiple submitters nemaline myopathy 2
p.Glu329Lys Multiple submitters nemaline myopathy 2 ⚠
p.Glu332Lys Multiple submitters nemaline myopathy 2
p.Glu3359Lys Multiple submitters nemaline myopathy 2 ⚠
p.Glu3697Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu3845Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu4027Gly Multiple submitters nemaline myopathy 2 ⚠
p.Glu566Lys Multiple submitters nemaline myopathy 2
p.Glu5680Lys Multiple submitters nemaline myopathy 2 ⚠
p.Glu6215Val Multiple submitters nemaline myopathy 2
p.Glu6372Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu6386Gly Multiple submitters Inborn genetic diseases
p.Glu6446Gly Multiple submitters nemaline myopathy 2
p.Glu6904Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu6904Gly Multiple submitters nemaline myopathy 2
p.Glu6904Lys Multiple submitters Inborn genetic diseases
p.Glu6969Val Multiple submitters nemaline myopathy 2
p.Glu7074Gly Multiple submitters nemaline myopathy 2
p.Glu7787Lys Multiple submitters nemaline myopathy 2
p.Glu7870Val Multiple submitters nemaline myopathy 2
p.Glu7963Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu7996Val Multiple submitters nemaline myopathy 2
p.Glu8407del Multiple submitters nemaline myopathy 2
p.Glu970Val Multiple submitters nemaline myopathy 2 ⚠
p.Glu9Lys Multiple submitters nemaline myopathy 2
p.Gly1220Ser Multiple submitters Inborn genetic diseases ⚠