HNRNPDL — 473 ClinVar variants
All ClinVar germline HNRNPDL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 241 flagged for review →
2 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 10 Conflicting · 17 Benign · 4 Benign/Likely benign · 161 Likely benign · 278 Uncertain significance
Full HNRNPDL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 241
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 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
HNRNPDL p.Arg82Leu
Conflicting
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Gln37Pro
Conflicting
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Gly366Ala
Conflicting
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Leu38Pro
Conflicting
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Pro83Leu
Conflicting
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ser92Pro
Conflicting
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Thr105Ile
Conflicting
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
Predictors lean, ClinVar uncertain 212
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 212
-
HNRNPDL p.Ala102Pro
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ala103Pro
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ala103Thr
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ala104Gly
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ala133Thr
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ala328Pro
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ala329Pro
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
- HNRNPDL p.Ala46Pro Uncertain significance Multiple submitters
-
HNRNPDL p.Ala57Ser
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ala57Thr
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ala70Val
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ala99Thr
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Arg106Gly
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Arg106Trp
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Arg109Pro
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Arg338Cys
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Arg36Leu
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Arg55Gly
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Arg56Trp
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Arg87Cys
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Arg88Cys
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Asn362Ser
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Asn386Ser
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Asp214Glu
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Gln110Arg
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Gly53Glu
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.His29Arg
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Leu14Phe
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Leu22Ser
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Leu85Phe
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Met123Thr
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Pro113Ala
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Pro113Leu
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Pro113Ser
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Pro16Leu
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Pro34Leu
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Pro40Arg
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Pro43Leu
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Pro47Ser
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Pro83Gln
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ser24Tyr
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ser28Cys
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ser92Ala
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ser93Gly
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ser94Ala
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ser94Pro
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ser98Ala
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Thr107Ser
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Thr21Ala
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Val3Ala
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ala100Thr
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ala100Val
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ala101Thr
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ala102Val
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ala103Val
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
- HNRNPDL p.Ala108Thr Uncertain significance Single submitter
- HNRNPDL p.Ala18Pro Uncertain significance Single submitter
-
HNRNPDL p.Ala18Thr
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ala20Pro
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ala20Thr
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
- HNRNPDL p.Ala20Val Uncertain significance Single submitter
-
HNRNPDL p.Ala23Thr
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ala23Val
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ala308Val
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ala327Val
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ala329Val
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ala364Thr
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ala39Thr
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
- HNRNPDL p.Ala50Ser Uncertain significance Single submitter
-
HNRNPDL p.Ala50Val
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ala63Val
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ala74Gly
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
- HNRNPDL p.Ala74Val Uncertain significance Single submitter
-
HNRNPDL p.Ala99Gly
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Arg106Pro
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
- HNRNPDL p.Arg109Cys Uncertain significance Single submitter
-
HNRNPDL p.Arg109Gly
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Arg109His
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Arg109Ser
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Arg25Gly
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Arg25His
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Arg332Gln
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Arg332Pro
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
- HNRNPDL p.Arg33Pro Uncertain significance Single submitter
-
HNRNPDL p.Arg36Trp
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Arg51Gly
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Arg59Leu
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
- HNRNPDL p.Arg59Pro Uncertain significance Single submitter
- HNRNPDL p.Arg68Gln Uncertain significance Single submitter
-
HNRNPDL p.Arg6Thr
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Arg79Leu
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Arg79Pro
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Arg81Gln
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
- HNRNPDL p.Arg81Gly Uncertain significance Single submitter
-
HNRNPDL p.Arg82His
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Arg82Pro
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Arg88His
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
- HNRNPDL p.Asn139His Uncertain significance Single submitter
-
HNRNPDL p.Asp115Asn
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Asp122Tyr
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Asp198Glu
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Asp243Gly
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Asp267Ala
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Asp378Tyr
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Asp84Ala
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Cys303Phe
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
- HNRNPDL p.Cys303Trp Uncertain significance Single submitter
-
HNRNPDL p.Gln369Glu
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Gln400Glu
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Gln52His
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Gln52Leu
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Gln64Arg
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Gln64His
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Gln65Arg
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Gln96Arg
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Glu210Lys
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
- HNRNPDL p.Gly215Ala Uncertain significance Single submitter
-
HNRNPDL p.Gly275Arg
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Gly330Ala
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Gly333Asp
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
- HNRNPDL p.Gly375Asp Uncertain significance Single submitter
-
HNRNPDL p.Gly376Glu
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Gly381Glu
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Gly381Val
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Gly53Val
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.His111Gln
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.His111Pro
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.His60Asp
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.His60Gln
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.His60Tyr
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
- HNRNPDL p.His89Arg Uncertain significance Single submitter
-
HNRNPDL p.His9Leu
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ile129Thr
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ile129Val
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ile249Val
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
- HNRNPDL p.Ile259Phe Uncertain significance Single submitter
-
HNRNPDL p.Ile75Thr
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ile95Leu
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
- HNRNPDL p.Ile95Met Uncertain significance Single submitter
-
HNRNPDL p.Ile95Thr
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ile95Val
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Leu14Ser
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Leu264Pro
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Leu38Arg
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Leu45Phe
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Leu45Val
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Leu7Phe
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Lys204Glu
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Lys233Arg
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
- HNRNPDL p.Lys233Gln Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
-
HNRNPDL p.Arg81Trp
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Arg82Cys
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Asp378Asn
Pathogenic/Likely pathogenic
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Phe350Ser
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ser136Phe
Uncertain significance
Multiple submitters
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Arg33Trp
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Arg80Ser
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
- HNRNPDL p.Asn370His Uncertain significance Single submitter
-
HNRNPDL p.Asp163Asn
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Cys303Gly
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Glu263Asp
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Glu292Lys
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Ile179Val
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
- HNRNPDL p.Leu217Trp Uncertain significance Single submitter
-
HNRNPDL p.Phe15Leu
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Phe256Ile
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Phe90Leu
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
- HNRNPDL p.Pro242Leu Uncertain significance Single submitter
-
HNRNPDL p.Ser245Cys
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Thr244Ile
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
-
HNRNPDL p.Tyr365Cys
Uncertain significance
Single submitter
autosomal dominant limb-girdle muscular dystrophy type 1G
- HNRNPDL p.Tyr420His Uncertain significance Single submitter
All HNRNPDL variants
Pathogenic/Likely pathogenic 2
- p.Asp378Asn Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Asp378His Multiple submitters HNRNPDL-related myopathy with protein aggregates and rimmed vacuoles
Likely pathogenic 1
- p.Ala39Phe Single submitter
Conflicting classifications of pathogenicity 10
- p.31RP[3] Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Arg109_Ala114del Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Arg82Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Gln37Pro Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Gly366Ala Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Leu38Pro Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Leu42Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Pro83Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ser92Pro Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Thr105Ile Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
Benign 17
- c.-111G>A Multiple submitters
- p.Gln110= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Leu27= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Thr119Ile Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Tyr403= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- c.1021+16T>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.1022-205A>C Single submitter
- c.1022-60dup Single submitter
- c.1193-31_1193-28del Single submitter
- c.613-15A>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.613-17A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.774+193A>G Single submitter
- c.775-181A>G Single submitter
- c.-10G>A Single submitter
- c.-762C>A Single submitter
- c.*22+84A>G Single submitter
- p.Thr244= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
Benign/Likely benign 4
- c.907-8del Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Arg33_Gln37del Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Leu42Phe Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Leu42Pro Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
Likely benign 161
- c.444-14_444-13del Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- c.612+13T>A Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- c.612+19A>G Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ala23= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ala364= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ala39= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Arg79= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Gly326= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Gly375= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Leu38= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Leu7= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Lys76= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Phe151= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Pro19= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Pro83= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ser17= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ser26= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ser401= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ser94= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Val237= Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- c.1021+20A>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.1021+7C>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.1021+9T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.1022-14G>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.1022-17A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.1192+12_1192+13insG Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.1192+18A>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.1193-16T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.1193-9T>C Single submitter
- c.443+10G>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.443+12T>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.443+13T>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.443+14C>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.443+14C>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.443+15T>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.443+17C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.443+18C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.443+19C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.443+20C>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.443+9C>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.443+9C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.444-15C>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.444-20_444-11del Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.444-20A>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.613-4G>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.774+11A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.775-12T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.775-13A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.775-15G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.775-16T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.775-20A>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.906+12T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.906+17A>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.906+19T>C Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.907-11T>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.907-15G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.907-17A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.907-4A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.907-5T>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ala100= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ala101= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ala103= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ala104= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ala18= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ala308= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ala328= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ala394= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ala57= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ala99= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Arg106= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Arg109= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Arg315= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Arg33= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Arg340= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Arg51= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Arg59= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Arg80= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Arg81= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Arg82= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Arg87= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Arg88= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Arg97= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Asn139= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Asn416= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Asp147= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Cys277= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Gln320= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Gln321= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Gln369= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Gln64= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Gln96= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Glu131= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Glu2= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Glu284= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Glu285= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Gly135= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Gly154= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Gly192= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Gly254= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Gly323= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Gly385= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Gly53= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Gly71= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Gly77= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Gly78= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.His111= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.His29= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.His413= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.His60= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ile249= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ile305= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Leu164= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Leu208= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Leu213= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Leu22= Single submitter
- p.Leu290= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Leu41= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Leu45= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Leu85= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Lys91= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Phe132= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Phe15= Single submitter
- p.Phe278= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Phe86= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Pro11= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Pro112= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Pro12= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Pro13= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Pro16= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Pro220= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Pro231= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Pro32= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Pro34= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Pro35= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Pro4= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Pro40= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Pro47= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Pro5= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ser117= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ser245= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ser28= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ser44= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ser49= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ser67= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ser93= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ser98= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Thr105= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Thr107= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Thr165= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Thr280= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Tyr281= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Tyr295= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Tyr354= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Tyr377= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Tyr417= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Tyr420= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Val10= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Val118= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Val184= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Val3= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Val313= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
Uncertain significance 278
- p.Ala102Pro Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala103Pro Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala103Thr Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala104Gly Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala133Thr Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala327_Gly333del Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ala328Pro Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala329Pro Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala46Pro Multiple submitters ⚠
- p.Ala57Ser Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala57Thr Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala70Val Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala99Thr Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg106Gly Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg106Trp Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg109Pro Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg338Cys Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg36_Gln37insProProArg Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Arg36Leu Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg55Gly Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg56Trp Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg81Trp Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg82Cys Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg87Cys Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg88Cys Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Asn362Ser Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Asn386Ser Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Asp214Glu Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Gln110Arg Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Gln37_Leu38delinsProPro Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Glu272Ile Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Gly53Glu Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.His29Arg Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Leu14Phe Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Leu22Ser Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Leu85Phe Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Met123Thr Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Phe350Ser Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro113Ala Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro113Leu Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro113Ser Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro16Leu Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro34_Arg36del Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Pro34Leu Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro40Arg Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro43Leu Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro47Ser Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro83Gln Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ser136Phe Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ser24Tyr Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ser28Cys Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ser92Ala Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ser93Gly Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ser94Ala Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ser94Pro Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ser98Ala Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Thr107Ser Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Thr21Ala Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Val3Ala Multiple submitters autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- c.1021+5G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.1021+6A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.1193-4A>G Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.443+6G>T Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.444-10_444-9del Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.612+5G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- c.774+3G>A Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ala100Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala100Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala101Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala102Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala103_Ala104del Single submitter
- p.Ala103Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala104dup Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ala108Thr Single submitter ⚠
- p.Ala114fs Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ala18Pro Single submitter ⚠
- p.Ala18Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala20Pro Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala20Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala20Val Single submitter ⚠
- p.Ala23Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala23Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala308Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala327Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala329Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala364Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala39Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala50Ser Single submitter ⚠
- p.Ala50Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala57fs Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ala63Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala74Gly Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ala74Val Single submitter ⚠
- p.Ala99Gly Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg106Pro Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg109Cys Single submitter ⚠
- p.Arg109Gly Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg109His Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg109Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg25Gly Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg25His Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg294= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Arg332Gln Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg332Pro Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg33Pro Single submitter ⚠
- p.Arg33Trp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg36_Leu38del Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Arg36Trp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg408Ter Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Arg51Gly Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg59_His60insArgAlaGlnArg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Arg59Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg59Pro Single submitter ⚠
- p.Arg68Gln Single submitter ⚠
- p.Arg6Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Arg6Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg79Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg79Pro Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg80Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg81Gln Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg81Gly Single submitter ⚠
- p.Arg82His Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg82Pro Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Arg88His Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Asn139His Single submitter ⚠
- p.Asn271fs Single submitter
- p.Asn370His Single submitter ⚠
- p.Asn412_His413delinsLysAsn Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Asp115Asn Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Asp122Tyr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Asp163Asn Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Asp198Glu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Asp219fs Single submitter
- p.Asp243Asn Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Asp243Gly Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Asp267Ala Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Asp283Gly Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Asp378Tyr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Asp84Ala Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Cys303Gly Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Cys303Phe Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Cys303Trp Single submitter ⚠
- p.Gln110Ter Single submitter
- p.Gln318Ter Single submitter
- p.Gln320_Gln321del Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Gln321del Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Gln356Glu Single submitter
- p.Gln369Glu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Gln400Glu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Gln52His Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Gln52Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Gln64Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Gln64His Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Gln65Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Gln96Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Gln96Ter Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Glu210Lys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Glu263Asp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Glu285del Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Glu292Lys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Gly215Ala Single submitter ⚠
- p.Gly275Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Gly330Ala Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Gly331_Arg332insGly Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Gly333Asp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Gly375Asp Single submitter ⚠
- p.Gly376Glu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Gly381Glu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Gly381Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Gly53Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.His111Gln Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.His111Pro Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.His60Asp Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.His60Gln Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.His60Tyr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.His89Arg Single submitter ⚠
- p.His89fs Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.His9Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ile129Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ile129Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ile179Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ile249Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ile259Phe Single submitter ⚠
- p.Ile75fs Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ile75Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ile95Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ile95Met Single submitter ⚠
- p.Ile95Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ile95Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Leu14Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Leu217Trp Single submitter ⚠
- p.Leu264Pro Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Leu38_Ala39insVal Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Leu38Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Leu45Phe Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Leu45Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Leu7Phe Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Lys204= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Lys204Glu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Lys233Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Lys233Gln Single submitter ⚠
- p.Met120Val Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Met150Ile Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Met266Val Single submitter ⚠
- p.Phe15Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Phe256Ile Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Phe86fs Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Phe90Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro112Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro112Ser Single submitter ⚠
- p.Pro113Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro113fs Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Pro113Thr Single submitter ⚠
- p.Pro11Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro11Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro11Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro12Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro13Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro16Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro16Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro19Arg Single submitter ⚠
- p.Pro19Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro19Thr Single submitter ⚠
- p.Pro242Leu Single submitter ⚠
- p.Pro265Ala Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro286Leu Single submitter ⚠
- p.Pro32Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro34_Leu38del Single submitter
- p.Pro34Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro35Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro35Leu Single submitter ⚠
- p.Pro35Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro40Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro43Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro47Ala Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro4Ala Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro4Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro83Ala Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro83Arg Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Pro83Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ser116Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ser245Cys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ser245Pro Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ser24Ala Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ser24Cys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ser28Phe Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ser300Ala Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ser300Phe Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Ser397Asn Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ser44Leu Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ser48Gly Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ser49Phe Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ser8Pro Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ser92Thr Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ser94Cys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ser94Phe Single submitter ⚠
- p.Ser98Cys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Ser98Pro Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Thr107Pro Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Thr119Ala Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Thr244Ile Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Thr270fs Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Thr282Ser Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Trp30Cys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Trp30Gly Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Tyr167= Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Tyr353Cys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Tyr365Cys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Tyr377Cys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Tyr379Cys Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Tyr420His Single submitter ⚠
- p.Val10Ala Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Val118Ile Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Val184Ile Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Val237Gly Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Val313fs Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G
- p.Val3Ile Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠
- p.Val61Phe Single submitter autosomal dominant limb-girdle muscular dystrophy type 1G ⚠