Sugi Variant

Sugi Variant/BICD2

BICD2 — 924 ClinVar variants

All ClinVar germline BICD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 456 flagged for review →

12 Pathogenic · 5 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 67 Conflicting · 35 Benign · 29 Benign/Likely benign · 347 Likely benign · 409 Uncertain significance

Full BICD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 456

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

Predictors vs ClinVar 3

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

Predictors agree, ClinVar conflicts 29

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

Predictors lean, ClinVar uncertain 221

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 221

Predictors split 203

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 203

All BICD2 variants

Pathogenic 12

  • p.Ser107Leu Multiple submitters distal myopathy ⚠
  • p.Asn700Lys Single submitter
  • p.Glu705Lys Single submitter
  • p.Glu774Gly Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu198Pro Single submitter
  • p.Leu641Gln Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Lys508del Single submitter Spastic paraplegia
  • p.Ser744Phe Single submitter
  • p.Tyr114Ter Single submitter BICD2-related Autosomal recessive Cohen Like syndrome
  • p.Tyr556Cys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ala535Val No assertion criteria neuronopathy, distal hereditary motor, autosomal dominant
  • p.Gln194Arg No assertion criteria spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant ⚠

Pathogenic/Likely pathogenic 5

  • p.Arg694Cys Multiple submitters Spinal muscular atrophy, lower extremity-predominant, 2, AD
  • p.Arg694His Multiple submitters spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
  • p.Asn546del Multiple submitters muscular atrophy
  • p.Glu774Lys Multiple submitters spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
  • p.Thr703Met Multiple submitters Inborn genetic diseases

Likely pathogenic 20

  • p.Tyr556Ser Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg558Pro Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg694Gly Single submitter Inborn genetic diseases
  • p.Asn545Asp Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Asp180Asn Single submitter spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
  • p.Gln179Ter Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gln702Arg Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu187Gly Single submitter
  • p.Glu515Lys Single submitter spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant ⚠
  • p.His210Pro Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ile189Met Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ile189Phe Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Lys686Asn Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Lys686Glu Single submitter spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
  • p.Lys734del Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Lys734Glu Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Phe530Ser Single submitter Inborn genetic diseases
  • p.Pro549Leu Single submitter
  • p.Ser190Arg Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu641Arg No assertion criteria autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

Conflicting classifications of pathogenicity 67

  • c.2106+3G>A Single submitter Inborn genetic diseases
  • c.2258+6C>T Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala243Val Single submitter Inborn genetic diseases ⚠
  • p.Ala476= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala480Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg129His Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg214Cys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg214His Single submitter Inborn genetic diseases ⚠
  • p.Arg231Cys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg357Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg399Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg399His Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg416Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg463His Single submitter Inborn genetic diseases ⚠
  • p.Arg473Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg493Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg501Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg566Cys Single submitter BICD2-related disorder ⚠
  • p.Arg566Leu Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg572His Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg581His Single submitter Inborn genetic diseases ⚠
  • p.Arg622Trp Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg655Cys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg747Cys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg747Leu Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Asn201Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn268Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn629Ser Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu374Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu724Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly514Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly563Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly565Ser Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gly839Arg Single submitter Inborn genetic diseases
  • p.Ile631= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu119Ile Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Leu390Ile Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Lys213Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys254Arg Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Lys27Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys404Arg Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Lys54Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys686Met Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Lys714Asn Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Lys90Arg Single submitter Inborn genetic diseases ⚠
  • p.Met553Ile Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Met749Val Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Phe271del Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Pro815Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser137Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser331Gly Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ser681Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser780Leu Single submitter Inborn genetic diseases ⚠
  • p.Thr135Met Single submitter Inborn genetic diseases ⚠
  • p.Thr459Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr459Met Single submitter Inborn genetic diseases ⚠
  • p.Thr482Met Single submitter Inborn genetic diseases ⚠
  • p.Thr602Met Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Thr723= Single submitter Inborn genetic diseases
  • p.Thr777= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Thr821Ala Single submitter Inborn genetic diseases ⚠
  • p.Tyr474Cys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Tyr538Cys Single submitter Inborn genetic diseases ⚠
  • p.Val665Leu Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg501Pro No assertion criteria autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Asn188Thr No assertion criteria autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Lys508Thr No assertion criteria hereditary spastic paraplegia 3A ⚠

Benign 35

  • c.1062+46C>G Multiple submitters
  • c.1063-111G>C Multiple submitters spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
  • c.1063-130G>A Multiple submitters
  • c.2107-21C>T Multiple submitters
  • c.2258+17C>T Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.240+102C>T Multiple submitters
  • c.240+120C>G Multiple submitters
  • c.-69A>G Multiple submitters
  • c.*1499C>T Multiple submitters
  • c.*1789C>A Multiple submitters
  • p.Ser847= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.2106+14C>T Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.2259-206C>A Single submitter
  • c.240+20C>A Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.453+212A>G Single submitter
  • c.453+9G>T Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.454-234_454-233insGTGTCAG Single submitter
  • c.607-161T>C Single submitter
  • c.-66GGC[4] Single submitter
  • c.*16G>A Single submitter
  • p.Ala326Val Single submitter
  • p.Ala671Val Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala771= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Arg580Gln Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg580Trp Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Asp228Glu Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu848= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gly560= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ile676_Leu677= Single submitter
  • p.Lys686= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ser510= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ser823= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Thr365Met Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Val512= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Arg766Trp No assertion criteria

Benign/Likely benign 29

  • c.2258+15G>C Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.2258+18G>A Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.2258+18G>C Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.240+8G>T Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.454-19T>C Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.454-7C>G Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala360Val Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ala513= Multiple submitters Inborn genetic diseases
  • p.Arg251= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Arg398Trp Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg450Cys Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg457His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg463Cys Multiple submitters Inborn genetic diseases
  • p.Asn393Lys Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Asn430= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Asp287= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Asp833Asn Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gln350= Multiple submitters Inborn genetic diseases
  • p.Gln494Arg Multiple submitters Inborn genetic diseases
  • p.His467= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu348= Multiple submitters Inborn genetic diseases
  • p.Met784Val Multiple submitters Inborn genetic diseases
  • p.Phe271= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Pro327= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Pro575= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Pro815= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Thr602= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Val485Phe Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Val512Ile Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

Likely benign 347

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

  • c.2106+17dup Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.2259-19A>G Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala480= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala500= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala523= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala595= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala644= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala671= Multiple submitters Inborn genetic diseases
  • p.Ala704= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala769= Multiple submitters Inborn genetic diseases
  • p.Ala814Ser Multiple submitters Inborn genetic diseases
  • p.Arg162His Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Arg251His Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Arg457= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Arg578His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg581Cys Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg655His Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg808His Multiple submitters Inborn genetic diseases ⚠
  • p.Asn412= Multiple submitters Inborn genetic diseases
  • p.Asn731Ser Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Asp417Gly Multiple submitters Inborn genetic diseases
  • p.Asp739= Multiple submitters Inborn genetic diseases
  • p.Asp95= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Cys846Arg Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gln147Arg Multiple submitters Inborn genetic diseases
  • p.Gln239His Multiple submitters Inborn genetic diseases ⚠
  • p.Gln401His Multiple submitters Inborn genetic diseases
  • p.Gln517= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gln654= Multiple submitters Inborn genetic diseases
  • p.Glu20Lys Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu420Ala Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu732= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gly306= Multiple submitters Inborn genetic diseases
  • p.Gly571Val Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gly601Glu Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.His540= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.His55= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ile676= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ile71= Multiple submitters Inborn genetic diseases
  • p.Leu103= Multiple submitters Inborn genetic diseases
  • p.Leu177= Multiple submitters Inborn genetic diseases
  • p.Leu586= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu677= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Lys818Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Met265Val Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Pro327Leu Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Pro327Ser Multiple submitters Inborn genetic diseases
  • p.Pro330= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Pro569= Multiple submitters Inborn genetic diseases
  • p.Pro583= Multiple submitters Inborn genetic diseases
  • p.Pro663= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ser334= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Thr123= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Thr123Met Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Thr249Met Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Thr319= Multiple submitters Inborn genetic diseases
  • p.Thr376= Multiple submitters Inborn genetic diseases
  • p.Thr376Met Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Thr482= Multiple submitters Inborn genetic diseases
  • p.Thr649= Multiple submitters Inborn genetic diseases
  • p.Thr692= Multiple submitters Inborn genetic diseases
  • p.Val66= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Val665Met Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Val824Ile Multiple submitters Inborn genetic diseases
  • c.1062+120A>G Single submitter
  • c.1062+19C>T Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.1063-10G>A Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.1063-7T>A Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.1063-9C>T Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.2106+11A>C Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.2106+13G>A Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.2106+212C>T Single submitter
  • c.2106+86G>A Single submitter
  • c.2106+8G>A Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.2106+9C>G Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.2107-11C>T Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.2107-15A>G Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.2107-16C>T Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.2107-7C>A Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.2107-7C>G Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.2107-83C>T Single submitter
  • c.2258+101G>A Single submitter
  • c.2258+11T>C Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.2258+14T>C Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.2258+17C>G Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.2258+294G>A Single submitter
  • c.2258+7G>A Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.2259-285G>A Single submitter
  • c.240+10G>T Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.240+11C>T Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.240+14C>T Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.240+222G>A Single submitter
  • c.240+8G>A Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.241-12C>T Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.241-14G>A Single submitter
  • c.241-16T>A Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.241-19G>A Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.241-267A>C Single submitter
  • c.241-294C>T Single submitter
  • c.241-4G>A Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.453+13G>A Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.453+17G>A Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.453+20C>T Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.453+8G>T Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.453+9G>A Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.454-10C>T Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.454-5A>G Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.454-6C>T Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.454-7C>A Single submitter
  • c.454-9C>A Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.606+111A>C Single submitter
  • c.606+18G>T Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.606+7C>G Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.607-15G>T Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.607-18G>A Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.607-18G>C Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.607-19C>T Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.607-8C>T Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.-32C>T Single submitter
  • c.-46C>T Single submitter
  • c.-5C>T Single submitter
  • c.-66GGC[5] Single submitter
  • c.-66GGC[7] Single submitter
  • c.*136G>A Single submitter
  • c.*20G>A Single submitter
  • p.Ala24= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala243= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala290= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala296= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala3= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala309= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala326Ser Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala34= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala360= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala436= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala44= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala462Thr Single submitter Inborn genetic diseases
  • p.Ala468= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala491= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala564= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala577= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala664= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala664Thr Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala709= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala741= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala785= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala791= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala813= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala831= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala835= Single submitter
  • p.Arg116= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Arg116Gln Single submitter Inborn genetic diseases
  • p.Arg12= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Arg162Cys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg199= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Arg23= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Arg238= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Arg238Gln Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Arg28= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Arg377Gln Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Arg389His Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Arg450= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Arg450His Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg457Cys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg493His Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg496= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Arg501= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Arg558= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Arg566His Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg572= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Arg572Cys Single submitter ⚠
  • p.Arg578Cys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg653= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Arg753= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Arg810His Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg834Gly Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Asn130= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Asn293Ser Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Asn294= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Asn301= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Asn315= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Asn626= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Asp166Asn Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Asp411= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Asp417= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Asp511= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Asp668= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Asp755= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Asp773= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gln18= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gln253= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gln354Glu Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gln384= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gln401= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gln407= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gln466= Single submitter
  • p.Gln494= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gln767= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gln788= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gln843Glu Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu16= Single submitter
  • p.Glu217= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu241= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu250Gln Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu252= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu291= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu323= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu413Lys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu426Gln Single submitter
  • p.Glu433= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu445= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu461Lys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu464= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu469= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu489= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu497= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu52= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu6= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu65= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu688= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu74= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu804= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu836Lys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu97= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gly302Val Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gly307Ser Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gly361= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gly431= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gly447= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gly47= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gly478Ser Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gly514= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gly518Arg Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gly562= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gly570Arg Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gly571= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gly571Ser Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.His275Tyr Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.His305= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.His460= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.His539= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.His86= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ile167= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ile342= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ile633Val Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ile786= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu121= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu13= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu132= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu178= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu215= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu22= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu240= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu283= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu299= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu308= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu311= Single submitter
  • p.Leu325= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu332= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu340= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu366= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu380= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu410= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu456= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu481= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu488= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu498= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu502= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu51= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu590= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu64= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu697= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu778= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu790= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu796= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu799= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu801= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Lys126= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Lys171= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Lys347= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Lys349= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Lys40= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Lys404= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Lys504= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Lys728= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Lys812= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Phe172= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Phe743= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Phe82= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Pro292= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Pro4= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Pro614= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Pro822= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ser107= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ser109= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ser137= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ser182= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ser2= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ser262= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ser279= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

Uncertain significance 409

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

  • c.1062+5G>A Multiple submitters Inborn genetic diseases
  • p.Ala326Pro Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ala595Val Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ala735fs Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala740Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala740Val Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg116Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg141Leu Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg160Cys Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg160His Multiple submitters BICD2-related disorder ⚠
  • p.Arg160Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg176His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg23Pro Multiple submitters BICD2-related disorder ⚠
  • p.Arg28Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg389Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg398Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg406Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg493Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg501Gln Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg581Ser Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg597Gln Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg687Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg783Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg795Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg795Trp Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg807Gln Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg99Trp Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Asn294del Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Asn301Ser Multiple submitters spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant ⚠
  • p.Gln122Arg Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gln370Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gln659Glu Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gln689Arg Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu101Lys Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu124Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu20Gln Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu245Lys Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu291Lys Multiple submitters spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant ⚠
  • p.Glu426Lys Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu451Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu45Gln Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu497Ser Multiple submitters Inborn genetic diseases
  • p.Glu576Lys Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu62Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Glu670Lys Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu800Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Glu800Lys Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu9del Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gly306Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly324Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly431Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly472Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly570_Pro575dup Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gly579Asp Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gly96Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His31Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.His375Asp Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.His539Gln Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.His55Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Leu390Phe Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Leu641Pro Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Lys849Gln Multiple submitters Inborn genetic diseases
  • p.Met355Leu Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Met727Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro330Arg Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Pro330His Multiple submitters Inborn genetic diseases ⚠
  • p.Ser30Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Ser318Phe Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ser329Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser458Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ser519Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Ser618Asn Multiple submitters spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant ⚠
  • p.Ser745Leu Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Thr319Met Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Thr703= Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Tyr68Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Val387Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val528Met Multiple submitters Inborn genetic diseases ⚠
  • c.2106+6G>C Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.2107-3C>T Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.2258+757_2305del Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.2259-3C>T Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.454-4A>G Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • c.-2C>T Single submitter
  • p.Ala17_Gln18insArgLeuValMetGluAla Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala17Glu Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ala290Thr Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ala34Ile Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala3Val Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ala402_Gln407del Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala402Thr Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ala444Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala468Thr Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ala491Ser Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ala577Val Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ala643Val Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ala644Asp Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ala709Ser Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ala720Thr Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ala740Thr Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ala769Val Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ala811Thr Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ala814Thr Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ala81Pro Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ala820Pro Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ala829Thr Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Ala85Thr Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg116Gly Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg129Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg12Gln Single submitter BICD2-related disorder ⚠
  • p.Arg141Cys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg141His Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg164Trp Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg173Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg173Gly Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg173Trp Single submitter ⚠
  • p.Arg176Leu Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg199Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg214Leu Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg231His Single submitter ⚠
  • p.Arg238Trp Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg357Gln Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg406Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg457Ser Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg473His Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg496Cys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg501Gly Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg551His Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg558Cys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg558His Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg558Leu Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg578fs Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Arg578Gly Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg621His Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg622Gln Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg635Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg635Gly Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg635His Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg647_Asp666del Single submitter BICD2-related disorder
  • p.Arg647His Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg653Cys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg653His Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg655Leu Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg730Leu Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg747His Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg766Gln Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg783His Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg807Trp Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg808Cys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg810Cys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Arg99Gln Single submitter Inborn genetic diseases ⚠
  • p.Asn130Ser Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Asn153Ile Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Asn155Ser Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Asn294Ile Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Asn412del Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Asn430Lys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Asn430Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn536Ser Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Asn545Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn546Ser Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Asn550Ser Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Asn842Ser Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Asp228Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp288Asn Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Asp288Glu Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Asp335Asn Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Asp417Asn Single submitter ⚠
  • p.Asp421Val Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Asp495His Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Asp511Asn Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Asp511Glu Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Asp636Glu Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Asp666Ala Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Asp739Glu Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Asp762Val Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Asp855Asn Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Asp95Val Single submitter Inborn genetic diseases ⚠
  • p.Cys437Ser Single submitter ⚠
  • p.Cys544Tyr Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Cys754Tyr Single submitter Inborn genetic diseases ⚠
  • p.Gln112Glu Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gln18Pro Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gln200Glu Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gln253Arg Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gln253His Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gln351His Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gln354His Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gln370His Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gln452Lys Single submitter ⚠
  • p.Gln466Arg Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gln637Arg Single submitter ⚠
  • p.Gln689Glu Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gln765Arg Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gln843Ter Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu111Ter Single submitter
  • p.Glu120Lys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu174Lys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu183Ter Single submitter
  • p.Glu20Gly Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu227Asp Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu234Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu237Gly Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu242Gly Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu245Asp Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu252Lys Single submitter ⚠
  • p.Glu260Ter Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu297Lys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu304Gly Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu304Lys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu32Asp Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu32Gln Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu374Gly Single submitter ⚠
  • p.Glu382Gly Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu385Lys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu392Lys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu445Lys Single submitter ⚠
  • p.Glu448Lys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu469Asp Single submitter ⚠
  • p.Glu469Gln Single submitter ⚠
  • p.Glu469Lys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu477Gln Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu497Ala Single submitter Inborn genetic diseases ⚠
  • p.Glu497Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu559_Arg566del Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu559Lys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu576Gly Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu65Lys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu660Lys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu670Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu674Gly Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu675Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu69Val Single submitter ⚠
  • p.Glu705Val Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu724Lys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu732Asp Single submitter ⚠
  • p.Glu772Lys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Glu7Ala Single submitter Inborn genetic diseases ⚠
  • p.Glu80Ter Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu848Lys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu9_Tyr10insGlu Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Glu97Lys Single submitter ⚠
  • p.Glu9Asp Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gly207Ser Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gly306Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly378Ala Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gly378Cys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gly422Glu Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gly478Asp Single submitter ⚠
  • p.Gly514Val Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gly560Asp Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gly563Glu Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gly570_Pro575del Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gly589Glu Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gly596Val Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gly600Cys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gly601Trp Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gly662Val Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Gly809Val Single submitter Inborn genetic diseases ⚠
  • p.Gly837Val Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Gly83Arg Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.His263Arg Single submitter Inborn genetic diseases ⚠
  • p.His305Arg Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.His305Tyr Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.His419Gln Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.His467Arg Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.His540Arg Single submitter BICD2-related disorder ⚠
  • p.His540Asp Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.His55Asp Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.His89Arg Single submitter BICD2-related disorder ⚠
  • p.Ile152Asn Single submitter Inborn genetic diseases ⚠
  • p.Ile152Phe Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ile167Val Single submitter Inborn genetic diseases ⚠
  • p.Ile235Leu Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ile235Met Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ile342Val Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ile638Met Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ile656Val Single submitter Inborn genetic diseases ⚠
  • p.Ile71Thr Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Ile758Val Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Leu121Val Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Leu13Arg Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Leu142Val Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Leu163Arg Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Leu208Pro Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Leu22Val Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Leu247Met Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Leu261Pro Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Leu276Met Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Leu29Val Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Leu311Val Single submitter Inborn genetic diseases ⚠
  • p.Leu332del Single submitter
  • p.Leu336= Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • p.Leu336Pro Single submitter ⚠
  • p.Leu394Met Single submitter amyotrophic lateral sclerosis ⚠
  • p.Leu397Val Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Leu481His Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Leu488Pro Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Leu502Pro Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠
  • p.Leu506Pro Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ⚠