Sugi Variant

Sugi Variant/FKRP

FKRP — 1074 ClinVar variants

All ClinVar germline FKRP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 489 flagged for review →

71 Pathogenic · 51 Pathogenic/Likely pathogenic · 87 Likely pathogenic · 68 Conflicting · 5 Benign · 7 Benign/Likely benign · 313 Likely benign · 472 Uncertain significance

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

⚑ Evidence disagreements 489

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

Predictors vs ClinVar 6

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

Predictors agree, ClinVar conflicts 30

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

Predictors lean, ClinVar uncertain 308

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 308

Predictors split 145

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

All FKRP variants

Pathogenic 71

  • p.Ala150fs Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Ala381fs Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Ala397fs Multiple submitters Cardiovascular phenotype
  • p.Ala455Asp Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Arg54Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Gln73Ter Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Gly219fs Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Gly391fs Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Ile367Thr Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Pro419fs Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Thr314Met Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Trp231Ter Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Tyr182Cys Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • c.-39-2934_564del Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala241fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala266fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala267fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala321fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2I
  • p.Ala82fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg181fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg312Pro Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg327fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Asp360Asn Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Asp360fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Asp438fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Cys296fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Cys317fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Cys375Ter Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gln28Ter Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gln437fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Gln437Ter Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gln447Ter Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Glu260fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Glu57Ter Single submitter
  • p.His435fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ile367Asn Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu272fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu276_Val277insTer Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu322fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu333_Val338del Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu413fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu452fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Met1Leu Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Met1Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Phe392fs Single submitter myopathy caused by variation in FKRP
  • p.Phe59_Asp60insTer Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Pro247fs Single submitter
  • p.Pro316fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Pro75fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ser221fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Thr293Ala Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Trp279fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Trp279Ter Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Trp286Ter Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Trp313Ter Single submitter
  • p.Trp359fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Trp394Ter Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Tyr307fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Tyr407Ter Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Tyr465Ser Single submitter ⚠
  • p.Tyr88fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Tyr88Ter Single submitter
  • p.Val160Phe Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Val218fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Val300fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Val329Met Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Val477fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Val51Phe Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Val79fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Val99fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Asp131delinsThrTer No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2I

Pathogenic/Likely pathogenic 51

  • p.Ala157Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Ala321Glu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ⚠
  • p.Arg176Ter Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Arg229fs Multiple submitters Cardiovascular phenotype
  • p.Arg275Cys Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Arg404fs Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Arg423fs Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Arg48fs Multiple submitters FKRP-related disorder
  • p.Asn172fs Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Asn424Ter Multiple submitters Cardiovascular phenotype
  • p.Asn463Asp Multiple submitters muscular dystrophy
  • p.Cys191fs Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Gln105Ter Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Gln406Ter Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Gln460Ter Multiple submitters Cardiovascular phenotype
  • p.Gln72Ter Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Gln77fs Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Gln77Ter Multiple submitters Cardiovascular phenotype
  • p.Glu260Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2I
  • p.Glu310Ter Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Glu324Ter Multiple submitters muscular dystrophy-dystroglycanopathy type B5
  • p.Glu334Ter Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Glu343Ter Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Glu55fs Multiple submitters Cardiovascular phenotype
  • p.Gly298Ter Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Gly345Ala Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Ile478Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Leu171fs Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Leu238fs Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Leu276Ile Multiple submitters hereditary skeletal muscle disorder ⚠
  • p.Leu446fs Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Lys472fs Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Phe56fs Multiple submitters FKRP-related disorder
  • p.Pro316Arg Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Pro316Thr Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Pro448Leu Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Pro462Ser Multiple submitters Cardiovascular phenotype
  • p.Pro89Ala Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Pro89Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Ser385Ter Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Ser69del Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Ter496Arg Multiple submitters FKRP-related disorder
  • p.Thr226fs Multiple submitters FKRP-related disorder
  • p.Trp359Ter Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Trp418Ter Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Trp432Ter Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Tyr307Asn Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Tyr340Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2I
  • p.Tyr361Ter Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Val300Ala Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Val338Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy

Likely pathogenic 87

  • p.Arg54Gly Multiple submitters autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Glu55Ter Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Pro117Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Pro89Ser Multiple submitters FKRP-related disorder
  • p.Ser211fs Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Trp26Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2I
  • p.Trp341Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2I
  • p.Ala263_Arg264insLeuGluGlyTer Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Ala326Asp Single submitter FKRP-related disorder
  • p.Ala336fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2I
  • p.Ala350fs Single submitter muscular dystrophy-dystroglycanopathy type B5
  • p.Arg176Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2I ⚠
  • p.Arg295fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Arg312Ser Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg327_Tyr328insTer Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Arg339Cys Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg339Pro Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg352Pro Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg37fs Single submitter Cardiovascular phenotype
  • p.Arg54Gln Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Asn411fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2I
  • p.Asn463Lys Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Asn463Ser Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Asp74fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2I
  • p.Cys168Tyr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2I
  • p.Cys317Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Cys318Tyr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Gln30Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Gln377fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Gln377Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Gln7Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Glu118Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Glu310fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2I
  • p.Glu443Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Glu470Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2I
  • p.Gly196Val Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gly288Arg Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gly288Val Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gly373fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.His414fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2I
  • p.Ile356Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ⚠
  • p.Ile478Val Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Leu52fs Single submitter muscular dystrophy-dystroglycanopathy type B5
  • p.Leu52Pro Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Met1Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Phe223fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Phe403fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2I
  • p.Pro186fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2I
  • p.Pro189fs Single submitter Autosomal recessive FKRP-related disorders
  • p.Pro247_Thr250del Single submitter
  • p.Pro315Arg Single submitter FKRP-related disorder
  • p.Pro315Thr Single submitter FKRP-related disorder
  • p.Pro316Ala Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Pro462Arg Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Pro462Leu Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Pro89Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2I ⚠
  • p.Ser221Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ⚠
  • p.Ser25fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Thr314Ala Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Trp178Cys Single submitter
  • p.Trp255Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2I
  • p.Trp286Arg Single submitter FKRP-related disorder
  • p.Trp341Arg Single submitter
  • p.Tyr182fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Tyr309Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Tyr328Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Tyr368Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Val145fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Val300Glu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Val393fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Val405Glu Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Val405Leu Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Val405Met Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala187fs No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2I
  • p.Ala455Val No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2I ⚠
  • p.Arg116fs No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2I
  • p.Arg134_Ala135insTer No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Arg295Gly No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • p.Asn374fs No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2I
  • p.Glu311Ter No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2I
  • p.Gly230fs No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2I
  • p.Leu155fs No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2I
  • p.Phe287fs No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2I
  • p.Pro90fs No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2I
  • p.Ser346Pro No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2I
  • p.Thr492fs No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2I
  • p.Val63fs No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2I

Conflicting classifications of pathogenicity 68

  • c.-253+9G>A Single submitter
  • c.-272G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2I
  • c.*10A>G Single submitter
  • p.Ala114Gly Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala122Thr Single submitter Cardiovascular phenotype ⚠
  • p.Ala161= Single submitter Cardiovascular phenotype
  • p.Ala227Pro Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 ⚠
  • p.Ala243= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala249Thr Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala321Thr Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala42Gly Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala455Ser Single submitter Cardiovascular phenotype ⚠
  • p.Ala455Thr Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg110Pro Single submitter autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Arg110Trp Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg167_Cys168delinsSerArg Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg216Trp Single submitter Cardiovascular phenotype ⚠
  • p.Arg244His Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg312Gly Single submitter Cardiovascular phenotype ⚠
  • p.Arg312Leu Single submitter Abnormality of the musculature ⚠
  • p.Arg323His Single submitter muscular dystrophy-dystroglycanopathy type B5 ⚠
  • p.Arg339Gly Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg339His Single submitter Cardiovascular phenotype ⚠
  • p.Arg352Cys Single submitter Cardiovascular phenotype ⚠
  • p.Arg379= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg379Pro Single submitter muscular dystrophy-dystroglycanopathy type B5 ⚠
  • p.Arg404Cys Single submitter muscular dystrophy-dystroglycanopathy type B5 ⚠
  • p.Asn463Ile Single submitter Cardiovascular phenotype ⚠
  • p.Cys168Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ⚠
  • p.Cys318= Single submitter Cardiovascular phenotype
  • p.Glu177= Single submitter Cardiovascular phenotype
  • p.Glu285Ala Single submitter muscular dystrophy-dystroglycanopathy type B5 ⚠
  • p.Glu310= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Glu311Asp Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Glu343Gln Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Glu57Lys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2I ⚠
  • p.Gly196Arg Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Gly288Ser Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Gly302Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ⚠
  • p.Gly354Glu Single submitter Cardiovascular phenotype ⚠
  • p.His412= Single submitter Cardiovascular phenotype
  • p.His412fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ile274Met Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Leu108Pro Single submitter Cardiovascular phenotype ⚠
  • p.Leu18= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu202= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Phe473Cys Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Pro189= Single submitter Cardiovascular phenotype
  • p.Pro247Gln Single submitter Cardiovascular phenotype
  • p.Pro316Ser Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Pro358Leu Single submitter Cardiovascular phenotype ⚠
  • p.Pro481Ala Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Pro94= Single submitter muscular dystrophy-dystroglycanopathy type B5
  • p.Pro97= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ser152Arg Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ser211Leu Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ser385Leu Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ser69Pro Single submitter Cardiovascular phenotype ⚠
  • p.Trp231Cys Single submitter muscular dystrophy-dystroglycanopathy type B5 ⚠
  • p.Tyr182His Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Tyr309Cys Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Tyr340Phe Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Val233= Single submitter Cardiovascular phenotype
  • p.Val300Met Single submitter Cardiovascular phenotype ⚠
  • p.Val372Gly Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Val393Ile Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Val51Ile Single submitter Cardiovascular phenotype ⚠
  • p.Val79Met Single submitter Cardiovascular phenotype

Benign 5

Benign/Likely benign 7

  • p.Ala212= Multiple submitters Cardiovascular phenotype
  • p.Ala83= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Arg143Ser Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Asn480= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Asp195= Multiple submitters Cardiovascular phenotype
  • p.Tyr340= Multiple submitters Cardiovascular phenotype
  • p.Val393= Multiple submitters muscular dystrophy-dystroglycanopathy, type A

Likely benign 313

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

  • c.-272GGC[8] Multiple submitters
  • p.Ala133= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Ala157= Multiple submitters Cardiovascular phenotype
  • p.Ala180= Multiple submitters Cardiovascular phenotype
  • p.Ala198= Multiple submitters Cardiovascular phenotype
  • p.Ala241= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Ala253= Multiple submitters Cardiovascular phenotype
  • p.Ala271= Multiple submitters Cardiovascular phenotype
  • p.Ala321= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Ala326= Multiple submitters Cardiovascular phenotype
  • p.Ala336= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Ala350= Multiple submitters Cardiovascular phenotype
  • p.Ala36= Multiple submitters Cardiovascular phenotype
  • p.Ala381= Multiple submitters Cardiovascular phenotype
  • p.Ala42= Multiple submitters Cardiovascular phenotype
  • p.Ala45= Multiple submitters Cardiovascular phenotype
  • p.Ala487= Multiple submitters Cardiovascular phenotype
  • p.Ala62= Multiple submitters Cardiovascular phenotype
  • p.Arg116= Multiple submitters Cardiovascular phenotype
  • p.Arg167= Multiple submitters Cardiovascular phenotype
  • p.Arg176= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Arg262= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Arg265= Multiple submitters Cardiovascular phenotype
  • p.Arg275= Multiple submitters Cardiovascular phenotype
  • p.Arg312= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Arg320= Multiple submitters Cardiovascular phenotype
  • p.Arg323= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Arg352= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Arg37= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Arg5= Multiple submitters Cardiovascular phenotype
  • p.Asn172= Multiple submitters Cardiovascular phenotype
  • p.Asn290= Multiple submitters Cardiovascular phenotype
  • p.Asn411= Multiple submitters Cardiovascular phenotype
  • p.Asn424= Multiple submitters Cardiovascular phenotype
  • p.Asp362= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Asp388= Multiple submitters Cardiovascular phenotype
  • p.Cys191= Multiple submitters Cardiovascular phenotype
  • p.Cys6= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Gln406= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Glu260= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Glu311= Multiple submitters Cardiovascular phenotype
  • p.Glu382= Multiple submitters Cardiovascular phenotype
  • p.Glu440= Multiple submitters Cardiovascular phenotype
  • p.Gly282= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Gly337= Multiple submitters Cardiovascular phenotype
  • p.Gly344= Multiple submitters Cardiovascular phenotype
  • p.Gly349= Multiple submitters Cardiovascular phenotype
  • p.Gly380= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Gly391= Multiple submitters Cardiovascular phenotype
  • p.Gly456= Multiple submitters Cardiovascular phenotype
  • p.Gly474= Multiple submitters Cardiovascular phenotype
  • p.His252= Multiple submitters Cardiovascular phenotype
  • p.His353= Multiple submitters Cardiovascular phenotype
  • p.Leu148= Multiple submitters Cardiovascular phenotype
  • p.Leu16= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Leu236= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Leu378= Multiple submitters Cardiovascular phenotype
  • p.Leu413= Multiple submitters Cardiovascular phenotype
  • p.Leu469= Multiple submitters Cardiovascular phenotype
  • p.Leu489= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Leu71= Multiple submitters Cardiovascular phenotype
  • p.Phe22= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Phe297= Multiple submitters Cardiovascular phenotype
  • p.Phe392= Multiple submitters Cardiovascular phenotype
  • p.Phe402= Multiple submitters Cardiovascular phenotype
  • p.Phe70= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Pro117= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Pro186= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Pro217= Multiple submitters Cardiovascular phenotype
  • p.Pro316= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Pro419= Multiple submitters Cardiovascular phenotype
  • p.Pro422= Multiple submitters Cardiovascular phenotype
  • p.Pro442= Multiple submitters Cardiovascular phenotype
  • p.Pro448= Multiple submitters Cardiovascular phenotype
  • p.Pro451= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Pro89= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Ser115= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Ser152= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Ser346= Multiple submitters Cardiovascular phenotype
  • p.Ser408= Multiple submitters Cardiovascular phenotype
  • p.Ser494= Multiple submitters Cardiovascular phenotype
  • p.Thr119= Multiple submitters Cardiovascular phenotype
  • p.Thr162= Multiple submitters Cardiovascular phenotype
  • p.Thr250= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Thr299= Multiple submitters Cardiovascular phenotype
  • p.Tyr120= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Tyr23= Multiple submitters Cardiovascular phenotype
  • p.Tyr309= Multiple submitters Cardiovascular phenotype
  • p.Tyr421= Multiple submitters Cardiovascular phenotype
  • p.Val145= Multiple submitters Cardiovascular phenotype
  • p.Val200= Multiple submitters Cardiovascular phenotype
  • p.Val218= Multiple submitters Cardiovascular phenotype
  • p.Val386= Multiple submitters Cardiovascular phenotype
  • p.Val80= Multiple submitters Cardiovascular phenotype
  • c.-195A>G Single submitter
  • c.-197C>T Single submitter
  • c.-206G>T Single submitter
  • c.-246A>G Single submitter
  • c.-252-125G>A Single submitter
  • c.-253+5GGCCG[3] Single submitter
  • c.-272GGC[3] Single submitter
  • c.-30G>A Single submitter
  • c.-39-15G>A Single submitter
  • c.-39-16C>T Single submitter
  • c.-39-205dup Single submitter
  • c.-39-206_-39-205del Single submitter
  • c.-39-243A>G Single submitter
  • c.-40+86G>C Single submitter
  • c.-52_-50del Single submitter
  • p.Ala107= Single submitter
  • p.Ala11= Single submitter
  • p.Ala112= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala113= Single submitter Cardiovascular phenotype
  • p.Ala137= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala147= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala158= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala166= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala185= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala187= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala232= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala251= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala257= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala263= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala266= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala267= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala306= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala383= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala397= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala455= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala459= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala461= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala76= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala82= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala9= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg110= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg2= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg203= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg205= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg216= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg229= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg259= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg270= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg283= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg295= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg327= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg35= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg390= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg404= Single submitter Cardiovascular phenotype
  • p.Arg423= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg54= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Asn374= Single submitter Cardiovascular phenotype
  • p.Asn463= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Asn485= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Asn98= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Asp109= Single submitter Cardiovascular phenotype
  • p.Asp192= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Asp197= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Asp206= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Asp303= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Asp355= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Asp364= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Asp401= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Asp438= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Asp84= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Cys289= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Cys296= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Cys317= Single submitter Cardiovascular phenotype
  • p.Gln234= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gln30= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gln377= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gln447= Single submitter Cardiovascular phenotype
  • p.Gln72= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gln77= Single submitter Cardiovascular phenotype
  • p.Glu146= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Glu258= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Glu285= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Glu292= Single submitter Cardiovascular phenotype
  • p.Glu343= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Glu389= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Glu399= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Glu409= Single submitter Cardiovascular phenotype
  • p.Glu443= Single submitter Cardiovascular phenotype
  • p.Gly132= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gly183= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gly196= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gly230= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gly261= Single submitter
  • p.Gly273= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gly281= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gly302= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gly331= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gly354= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gly366= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gly373= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gly38= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gly400= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gly425= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gly46= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gly476= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.His414= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.His435= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.His444= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ile274= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ile367= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu10= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu104= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu108= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu128= Single submitter Cardiovascular phenotype
  • p.Leu140= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu141= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu171= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu175= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu19= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu194= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu201= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu207= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu21= Single submitter Cardiovascular phenotype
  • p.Leu214= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu222= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu235= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu238= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu248= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu269= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu27= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu276= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu284= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu3= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu319= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu342= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu347= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu369= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu417= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu433= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu446= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu449= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu471= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu66= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu91= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu93= Single submitter Cardiovascular phenotype
  • p.Lys429= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Lys472= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Phe125= Single submitter
  • p.Phe208= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Phe240= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Phe287= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Phe420= Single submitter
  • p.Phe441= Single submitter Cardiovascular phenotype
  • p.Phe454= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Phe468= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Phe473= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Phe59= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Pro106= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Pro111= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Pro130= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Pro138= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Pro159= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Pro213= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Pro246= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Pro247= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Pro305= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Pro31= Single submitter Cardiovascular phenotype
  • p.Pro315= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Pro358= Single submitter Cardiovascular phenotype
  • p.Pro39= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Pro462= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Pro47= Single submitter Cardiovascular phenotype
  • p.Pro481= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Pro486= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Pro64= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Pro75= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Pro87= Single submitter Cardiovascular phenotype
  • p.Pro90= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ser174= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ser174Cys Single submitter
  • p.Ser211= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ser25= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ser278= Single submitter Cardiovascular phenotype
  • p.Ser385= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Thr123= Single submitter Cardiovascular phenotype
  • p.Thr15= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Thr179= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Thr226= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Thr239= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Thr293= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Thr294= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Thr304= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Thr314= Single submitter Cardiovascular phenotype
  • p.Thr325= Single submitter
  • p.Thr50= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Thr85= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Tyr328= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Tyr361= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Tyr407= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Tyr483= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Tyr88= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Val121= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Val129= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Val199= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Val20= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Val300= Single submitter muscular dystrophy-dystroglycanopathy, type A

Uncertain significance 472

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

  • c.-253+4A>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • c.-253+5G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2I
  • c.-2C>A Multiple submitters Cardiovascular phenotype
  • p.Ala102Glu Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala107Ser Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala113Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala127Thr Multiple submitters Cardiovascular phenotype
  • p.Ala135Asp Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala13Thr Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Ala163Gly Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala184Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ⚠
  • p.Ala185Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala188Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala188Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala212Val Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala242Val Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala253Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala266Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala321_Arg323dup Multiple submitters
  • p.Ala326Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala335Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala336Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala351Pro Multiple submitters ⚠
  • p.Ala351Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala36Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala381Pro Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala397Val Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala459Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala58Thr Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala62Val Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala8Thr Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala92Ser Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg100His Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg116Cys Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg116Leu Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg134Pro Multiple submitters ⚠
  • p.Arg143Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg149His Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg176Gln Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg181Cys Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Arg181Ser Multiple submitters muscular dystrophy-dystroglycanopathy type B5 ⚠
  • p.Arg190His Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg203Cys Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg205Cys Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg205Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg216Gln Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg244Leu Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg259Cys Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg264Gly Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg265Leu Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg270His Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg2Trp Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg320His Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg327Gly Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg35Gln Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg379Gln Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg37Gln Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg390Gly Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg40Ser Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg41His Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg41Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg423Pro Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg436Trp Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Arg466His Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg95Cys Multiple submitters Cardiovascular phenotype
  • p.Asn172Lys Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Asn290Lys Multiple submitters Cardiovascular phenotype ⚠
  • p.Asn33Asp Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Asn424His Multiple submitters Cardiovascular phenotype ⚠
  • p.Asn424Ser Multiple submitters muscular dystrophy-dystroglycanopathy type B5 ⚠
  • p.Asn480Ile Multiple submitters Cardiovascular phenotype ⚠
  • p.Asp197Val Multiple submitters Cardiovascular phenotype
  • p.Asp206Asn Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ⚠
  • p.Asp303Asn Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Asp401Asn Multiple submitters Cardiovascular phenotype ⚠
  • p.Asp60Glu Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Asp68Ala Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Cys317Tyr Multiple submitters Cardiovascular phenotype ⚠
  • p.Cys375Ser Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Cys6Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Gln105His Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Gln225Lys Multiple submitters Cardiovascular phenotype ⚠
  • p.Gln28Arg Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Gln28Glu Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu124Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu177Lys Multiple submitters Cardiovascular phenotype
  • p.Glu260Ala Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu280Lys Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Glu310Gln Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Glu310Lys Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Glu324Asp Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu324Gln Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Glu334_Arg339dup Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Glu382Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu395Lys Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Glu399Lys Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Glu479Lys Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly132Glu Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Gly151Ala Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Gly183Asp Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly219Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly282Ala Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly282Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly298Ala Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly298Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly354Arg Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Gly373Asp Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly373Ser Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Gly380Glu Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly391Ser Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Gly476Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly476Glu Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.His29Tyr Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.His353Gln Multiple submitters ⚠
  • p.Ile274Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu148Ile Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Leu171Val Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Leu175Pro Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu210Val Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Leu214Val Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Leu228Phe Multiple submitters Cardiovascular phenotype
  • p.Leu236Pro Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Leu236Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ⚠
  • p.Leu268Arg Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Leu284Pro Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Leu322Val Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Leu449Pro Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu489Arg Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Leu93_Pro94dup Multiple submitters Cardiovascular phenotype
  • p.Phe125Ser Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Phe240Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Pro106Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Pro186Leu Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Pro217Thr Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Pro451Leu Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Pro475Leu Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Pro481His Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Pro78Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Pro94His Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Pro94Ser Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ser115Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Ser115Trp Multiple submitters Cardiovascular phenotype ⚠
  • p.Ser34Phe Multiple submitters Cardiovascular phenotype ⚠
  • p.Ser43Cys Multiple submitters Cardiovascular phenotype ⚠
  • p.Ser494Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Ser69Phe Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Thr15Pro Multiple submitters Cardiovascular phenotype
  • p.Thr226Asn Multiple submitters Cardiovascular phenotype ⚠
  • p.Thr294Lys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ⚠
  • p.Thr428Ala Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Thr431Ala Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Thr4Ala Multiple submitters muscular dystrophy-dystroglycanopathy type B5 ⚠
  • p.Thr4Ser Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Trp279Arg Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ⚠
  • p.Tyr23Cys Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Tyr307Cys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ⚠
  • p.Tyr328del Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Tyr421His Multiple submitters Cardiovascular phenotype ⚠
  • p.Val129Leu Multiple submitters Cardiovascular phenotype
  • p.Val145Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Val145Met Multiple submitters Cardiovascular phenotype
  • p.Val156Met Multiple submitters Cardiovascular phenotype ⚠
  • p.Val173Ile Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Val20Ala Multiple submitters Cardiovascular phenotype
  • p.Val332Met Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Val363Leu Multiple submitters ⚠
  • p.Val398Ile Multiple submitters Cardiovascular phenotype ⚠
  • p.Val439Glu Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Val477Ile Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Val51Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Val63Met Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Val79Ala Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Val99Met Multiple submitters Cardiovascular phenotype ⚠
  • c.-253+331C>A Single submitter
  • c.-4C>T Single submitter Cardiovascular phenotype
  • c.-7_-1delinsT Single submitter Cardiovascular phenotype
  • p.Ala113Thr Single submitter Cardiovascular phenotype ⚠
  • p.Ala133Ser Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala133Val Single submitter Cardiovascular phenotype ⚠
  • p.Ala135Ser Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala135Thr Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala135Val Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala13del Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala150Thr Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala157Gly Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala158Thr Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala161Thr Single submitter Cardiovascular phenotype ⚠
  • p.Ala161Val Single submitter ⚠
  • p.Ala163Thr Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala166Gly Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala170Ser Single submitter Cardiovascular phenotype ⚠
  • p.Ala180Asp Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala180Ser Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala184Thr Single submitter Cardiovascular phenotype ⚠
  • p.Ala187Asn Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala193Val Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala198Ser Single submitter Cardiovascular phenotype ⚠
  • p.Ala198Thr Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala204Thr Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala215Asp Single submitter Cardiovascular phenotype ⚠
  • p.Ala241Thr Single submitter Cardiovascular phenotype ⚠
  • p.Ala243Pro Single submitter Cardiovascular phenotype ⚠
  • p.Ala263Val Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala271Thr Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala306Thr Single submitter Cardiovascular phenotype ⚠
  • p.Ala326Ser Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala336Thr Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala381Ser Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala381Thr Single submitter Cardiovascular phenotype ⚠
  • p.Ala381Val Single submitter ⚠
  • p.Ala461Gly Single submitter ⚠
  • p.Ala82Val Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala9Val Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg100Cys Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg100Pro Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg116His Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg134Trp Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg143Cys Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg143His Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg143Pro Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg190Cys Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg190Pro Single submitter Cardiovascular phenotype ⚠
  • p.Arg203His Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg205Pro Single submitter Cardiovascular phenotype ⚠
  • p.Arg254Cys Single submitter ⚠
  • p.Arg254His Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg259Gly Single submitter Cardiovascular phenotype ⚠
  • p.Arg264Pro Single submitter Cardiovascular phenotype ⚠
  • p.Arg265Gln Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg270Cys Single submitter ⚠
  • p.Arg283Pro Single submitter Cardiovascular phenotype ⚠
  • p.Arg2Gln Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg2Leu Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg312His Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg320Cys Single submitter ⚠
  • p.Arg320Ser Single submitter
  • p.Arg327Cys Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg327His Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg339Ser Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg35Trp Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg390His Single submitter Cardiovascular phenotype ⚠
  • p.Arg404His Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg40His Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ⚠
  • p.Arg41Ser Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg436Gln Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg467His Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg48Ser Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg5Cys Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg5His Single submitter ⚠
  • p.Arg95Leu Single submitter Cardiovascular phenotype ⚠
  • p.Asn164Ser Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Asn209Lys Single submitter ⚠
  • p.Asn464Ile Single submitter ⚠
  • p.Asn464Lys Single submitter Cardiovascular phenotype ⚠
  • p.Asn480Lys Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Asn61Lys Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Asn98Ser Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Asn98Tyr Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Asp192Gly Single submitter Cardiovascular phenotype ⚠
  • p.Asp195Tyr Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Asp303Glu Single submitter Cardiovascular phenotype ⚠
  • p.Asp362Ala Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ⚠
  • p.Asp362Asn Single submitter Cardiovascular phenotype ⚠
  • p.Asp362Glu Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Asp371Glu Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Asp434Gly Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Asp60Tyr Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Asp68His Single submitter ⚠
  • p.Asp84Gly Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Gln105_Pro106insHisAlaLeuAspArg Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gln105Glu Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Gln225Pro Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Gln28His Single submitter Cardiovascular phenotype
  • p.Gln377Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2I ⚠
  • p.Gln406Pro Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Gln437Arg Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Gln437Lys Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Gln460Arg Single submitter Cardiovascular phenotype ⚠
  • p.Gln482fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gln482Ter Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gln72Arg Single submitter Cardiovascular phenotype ⚠
  • p.Gln73Arg Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Gln77Arg Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Glu124Asp Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Glu142Asp Single submitter ⚠
  • p.Glu142Lys Single submitter Cardiovascular phenotype ⚠
  • p.Glu146Lys Single submitter Cardiovascular phenotype ⚠
  • p.Glu260Asp Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Glu292Lys Single submitter Cardiovascular phenotype
  • p.Glu311Lys Single submitter ⚠
  • p.Glu334Lys Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Glu395Gln Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Glu443Gly Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Glu479Gly Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Glu55Lys Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Gly132Ala Single submitter autosomal recessive limb-girdle muscular dystrophy type 2I
  • p.Gly132Arg Single submitter Cardiovascular phenotype ⚠
  • p.Gly196Glu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2I ⚠
  • p.Gly230Cys Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Gly230Ser Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠