Sugi Variant

Sugi Variant/TNPO3

TNPO3 — 756 ClinVar variants

All ClinVar germline TNPO3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 303 flagged for review →

3 Pathogenic · 6 Likely pathogenic · 41 Conflicting · 47 Benign · 5 Benign/Likely benign · 276 Likely benign · 378 Uncertain significance

Full TNPO3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 303

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

Predictors agree, ClinVar conflicts 13

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

Predictors lean, ClinVar uncertain 232

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 232

Predictors split 58

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

All TNPO3 variants

Pathogenic 3

  • p.Gln55Ter Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Arg818Pro No assertion criteria autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ter924CysextTer? No assertion criteria autosomal dominant limb-girdle muscular dystrophy type 1F

Likely pathogenic 6

  • p.Arg923fs Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1920+1G>A Single submitter
  • c.2430+1G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Arg920fs Single submitter
  • p.Leu515fs Single submitter
  • p.Thr475fs Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F

Conflicting classifications of pathogenicity 41

  • c.120+9C>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1358+12A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1359-5C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2062-8C>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2274-5A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2599-6A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.696+8A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.873-3C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ala445Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ala63= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ala914Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg286Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg286His Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg614His Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg769Gln Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Asn690= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Asp194= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Gln268= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Glu277Asp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Glu906= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.His374= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.His693= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ile369Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ile604Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ile776Val Single submitter Inborn genetic diseases ⚠
  • p.Ile94= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu302= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu78= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Pro608= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ser178= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ser875= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Thr106= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Thr393= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Thr475Met Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Thr686= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Thr805Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr849Ala Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Thr92Ile Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Tyr368= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Val485Ile Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Val617= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F

Benign 47

Benign/Likely benign 5

  • c.1158+17A>G Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1359-12G>A Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2273+16G>A Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2431-6A>C Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ile760= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F

Likely benign 276

  • c.1011+20A>G Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1267-14C>T Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1359-11C>T Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1359-13C>T Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1921-205A>G Multiple submitters
  • c.2061+179C>T Multiple submitters
  • c.2061+17C>T Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2061+18G>A Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2598+20G>A Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2599-78G>A Multiple submitters
  • c.321+31T>C Multiple submitters
  • p.Ala252= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ala283= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Arg531= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu184= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu752= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Pro457= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Pro501= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ser246= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Val403= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Val795= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1011+148T>A Single submitter
  • c.1011+322A>C Single submitter
  • c.1011+56T>C Single submitter
  • c.1011+9T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1012-271A>G Single submitter
  • c.1012-326C>T Single submitter
  • c.1012-4A>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1159-11del Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1159-15G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1159-7A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.120+13G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.120+14A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.120+184C>G Single submitter
  • c.120+20A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.120+7G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.121-30T>G Single submitter
  • c.121-8G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.121-9C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1266+13G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1266+13G>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1266+19T>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1266+20_1266+30del Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1266+7C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1267-13del Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1267-16A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1267-18C>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1267-4C>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1358+16G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1359-14C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1498+19C>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1498+19C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1499-13C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1499-21_1499-20del Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1499-5C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1691-13_1691-10del Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1782+11T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1782+16G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1783-18G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1783-303AAT[3] Single submitter
  • c.1783-7T>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1783-8C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1859+11A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1859+16C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1859+19G>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1859+242C>G Single submitter
  • c.1860-18G>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1860-5C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1920+16T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1921-7G>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2061+10T>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2061+17C>A Single submitter
  • c.2061+17C>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2061+188G>A Single submitter
  • c.2061+18dup Single submitter
  • c.2061+26G>A Single submitter
  • c.2061+75T>C Single submitter
  • c.2061+9A>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2062-17G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2062-34G>A Single submitter
  • c.2178+12A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2178+13T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2178+17G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2178+20T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2178+26C>T Single submitter
  • c.2178+9T>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2179-15A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2179-8T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2179-8T>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2273+133A>G Single submitter
  • c.2273+18G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2274-15C>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2274-15C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2274-17C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2430+154A>G Single submitter
  • c.2430+16A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2430+199dup Single submitter
  • c.2430+9A>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2430+9A>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2431-12T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2598+10T>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2598+17G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2598+245A>G Single submitter
  • c.2598+9G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2599-18C>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2599-268C>T Single submitter
  • c.2711+11C>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2711+16G>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2711+17G>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2711+287G>A Single submitter
  • c.2711+9T>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2712-267A>G Single submitter
  • c.321+10G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.321+27A>G Single submitter
  • c.322-12T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.322-13CT[2] Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.322-14T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.322-16A>G Single submitter
  • c.395+15T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.395+19C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.395+29G>A Single submitter
  • c.395+7A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.396-19C>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.552+11T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.552+15A>G Single submitter
  • c.552+9G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.553-116T>C Single submitter
  • c.553-7T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.696+12C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.696+16A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.697-10A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.697-16C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.697-20T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.697-249C>T Single submitter
  • c.697-5C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.697-9C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.872+11G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.873-11G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.873-17del Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.873-4A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.873-5T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.873-7T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.873-9C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ala14= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ala17= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ala174= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ala220= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ala421= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ala439= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ala520= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ala558= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ala591= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ala678= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ala780= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Arg165= Single submitter
  • p.Arg29= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Arg322= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Arg400= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Arg478= Single submitter
  • p.Arg614= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Asn357= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Asn431= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Asn525= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Asn827= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Asp56= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Asp723Asn Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Asp99= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Cys296= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Cys663= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Cys844= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Gln316= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Gln335= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Gln370= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Gln497His Single submitter
  • p.Gln734= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Gln743= Single submitter
  • p.Glu145= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Glu195= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Glu351= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Glu435= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Glu483= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Glu487= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Glu543= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Glu583= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Glu599= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Glu660= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Glu859= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Gly206= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Gly332= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Gly415= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Gly629= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Gly676= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Gly720= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.His155= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.His20= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.His362= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.His621= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.His652Tyr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.His788= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.His839= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ile361= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ile364= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ile730= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ile860= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu150= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu183= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu214= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu225= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu227= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu321= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu349= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu353= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu382= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu463= Single submitter
  • p.Leu469= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu484= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu50= Single submitter
  • p.Leu541= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu542= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu548= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu584= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu592= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu649= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu680= Single submitter
  • p.Leu707= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu725= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu736= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu802= Single submitter
  • p.Leu838= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Lys123= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Lys200= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Lys236= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Lys508= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Lys651= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Pro384= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Pro470= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Pro555= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Pro6= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Pro633= Single submitter
  • p.Pro643= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Pro775= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Pro847= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ser101= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ser238= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ser251= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ser31= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ser582= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ser59= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ser646= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ser794= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Thr179= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Thr261= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Thr472= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Thr578= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Thr609= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Thr631= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Thr66= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Thr732= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Thr757= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Thr849= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Thr891= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Tyr354= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Tyr505= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Tyr692= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Tyr848= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Val130= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Val249= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Val491= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Val559= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Val659= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Val689= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Val694= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Val773= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Val825Met Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Val834= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Val902= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F

Uncertain significance 378

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

  • c.2431-2A>C Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.697-4_697-3delinsGA Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ala111Val Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ala331Ser Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ala367Asp Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ala439Val Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ala654Val Multiple submitters Inborn genetic diseases ⚠
  • p.Arg160Ter Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Arg166His Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg203His Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg297Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg297His Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg322Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg322Ter Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Arg348Ter Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Arg468Cys Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg468His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg478Gln Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg531Gln Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Arg546Cys Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg546His Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg54Trp Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg653Leu Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg657Trp Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg671Cys Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg818Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg923Gln Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Asn357Asp Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Asn455Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Asn456Ser Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Asn539Ser Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Asp235Val Multiple submitters Inborn genetic diseases ⚠
  • p.Asp288His Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Asp358Gly Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Asp549Asn Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Asp814Gly Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Cys729Gly Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Cys729Ser Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Gln268Arg Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Gln52Pro Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Gln536Pro Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Gln630His Multiple submitters Inborn genetic diseases
  • p.Gln738Glu Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Gln743Arg Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Gln778Arg Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Glu230Ter Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Glu325Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu579Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly192Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly317Asp Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Gly741Asp Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ile364Leu Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ile625Thr Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ile803Met Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Leu198Phe Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Leu263Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Lys521Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys594= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Met219Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Met417Val Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Met861Val Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Phe175Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Phe343Tyr Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Phe868Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Phe922fs Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Pro384Ser Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Pro470Leu Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Pro846Arg Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ser207Gly Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ser238Leu Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ser835Gly Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Thr903Ser Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Trp44Arg Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Trp858Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Trp871Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr254Cys Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Val103Ile Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Val181Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val389Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val473Ile Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Val492Ile Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Val529Leu Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Val691Met Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Val885Met Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Val888Ile Multiple submitters Inborn genetic diseases ⚠
  • c.1011+3A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1011+4G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1011+4G>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1012-12T>G Single submitter
  • c.1012-2A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1159-3T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.121-2A>G Single submitter
  • c.1358+1G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1359-13C>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1359-19A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1359-1G>C Single submitter
  • c.1359-52A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1498+3A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1499-3T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1690+1G>T Single submitter
  • c.1782+2dup Single submitter
  • c.1859+15_1859+16delinsAA Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1859+3A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.1860-20G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2062-4A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2273+2T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2431-3C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.2599-2A>G Single submitter
  • c.2599-3_2599-2del Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.321+1G>T Single submitter
  • c.321+4A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.396-1G>C Single submitter
  • c.552+4A>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • c.552+6T>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ala226Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ala245Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ala266Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ala448Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ala448Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala616Pro Single submitter ⚠
  • p.Ala64Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Ala727Val Single submitter
  • p.Ala756Pro Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ala84Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ala914Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg157Cys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg157His Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Arg166Cys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg297Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg371Lys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg400His Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg494Gln Single submitter ⚠
  • p.Arg531Ter Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Arg54Gln Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg571fs Single submitter
  • p.Arg571Gln Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg614Cys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg620Met Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg653Gln Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg653Pro Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg667Cys Single submitter ⚠
  • p.Arg718Gln Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg718Trp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg754Gln Single submitter ⚠
  • p.Arg758Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg762Cys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg762His Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg818Gln Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg865Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg870Gln Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg87Trp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg916Gln Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Arg916Ter Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Asn262Asp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Asn262Ter Single submitter
  • p.Asn431Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Asn495Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Asn525Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Asn602Ile Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Asn690Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Asn809Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Asp114Glu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Asp194Glu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Asp215Asn Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Asp358Asn Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Asp385Tyr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Asp395Glu Single submitter ⚠
  • p.Asp549His Single submitter Inborn genetic diseases ⚠
  • p.Asp56Ala Single submitter Inborn genetic diseases ⚠
  • p.Asp575Gly Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Asp575Tyr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Asp655Gly Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Asp787Asn Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Asp790Gly Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Asp864Asn Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Asp864Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp917Glu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Cys187Gly Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Cys312Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Cys312Ser Single submitter ⚠
  • p.Cys419Ter Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Cys419Tyr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Cys511Arg Single submitter ⚠
  • p.Cys527Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Cys60Ter Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Cys634Tyr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Cys663Arg Single submitter Inborn genetic diseases ⚠
  • p.Cys663Ser Single submitter Inborn genetic diseases ⚠
  • p.Cys672Phe Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Gln107Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Gln127His Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Gln268His Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Gln268Lys Single submitter ⚠
  • p.Gln271Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Gln335Arg Single submitter ⚠
  • p.Gln370Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln422Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Gln49Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln588Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Gln682His Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Gln726Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Gln726Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Gln738Pro Single submitter Inborn genetic diseases ⚠
  • p.Glu438Asp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Glu543fs Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Glu640Gln Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Glu647Gln Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Glu714Asp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Glu714Val Single submitter ⚠
  • p.Glu715Asp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Gly124Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly124Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Gly206Glu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Gly212Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Gly315Arg Single submitter
  • p.Gly363Asp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Gly504Ala Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Gly504Asp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Gly504Cys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Gly509Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Gly716Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly806Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly830Ala Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Gly830Glu Single submitter ⚠
  • p.Gly878Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.His281fs Single submitter
  • p.His374Tyr Single submitter ⚠
  • p.His386Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.His474Arg Single submitter ⚠
  • p.His537Asn Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.His537Gln Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.His693Asp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.His839Pro Single submitter ⚠
  • p.His83Asp Single submitter ⚠
  • p.His892Asn Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.His892Asp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.His892Gln Single submitter ⚠
  • p.His892Tyr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ile104Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ile146Asn Single submitter ⚠
  • p.Ile161Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ile256Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ile298Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ile361fs Single submitter
  • p.Ile364Val Single submitter ⚠
  • p.Ile414Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ile447Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ile523Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ile544Met Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ile544Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ile625Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ile638Met Single submitter Inborn genetic diseases
  • p.Ile638Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Ile760Met Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Leu140Phe Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Leu184Trp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Leu211Trp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Leu253Pro Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Leu276Trp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Leu318Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Leu406Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu499Phe Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Leu503fs Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Leu506Val Single submitter
  • p.Leu574Phe Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Leu581Arg Single submitter Inborn genetic diseases ⚠
  • p.Leu584fs Single submitter
  • p.Leu645Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Leu78Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Leu802Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Leu845Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Leu850Pro Single submitter Inborn genetic diseases ⚠
  • p.Lys123fs Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Lys223fs Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Lys309Asn Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Lys521Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Lys593Glu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Lys636Glu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Lys651Glu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Lys893Gln Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Met219Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Met401Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Met444Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Met507Ile Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Met67Ile Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Met688Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Met69Val Single submitter Inborn genetic diseases ⚠
  • p.Met861Ile Single submitter TNPO3-related disorder ⚠
  • p.Phe175Ala Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Phe611Cys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Phe611Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Phe62Cys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Phe759Cys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Phe918fs Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F
  • p.Phe922Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Pro120Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Pro390Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Pro432Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro433Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠
  • p.Pro453Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1F ⚠