Sugi Variant

Sugi Variant/POMT2

POMT2 — 1246 ClinVar variants

All ClinVar germline POMT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 396 flagged for review →

63 Pathogenic · 21 Pathogenic/Likely pathogenic · 61 Likely pathogenic · 77 Conflicting · 64 Benign · 12 Benign/Likely benign · 476 Likely benign · 472 Uncertain significance

Full POMT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 396

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 1

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

Predictors agree, ClinVar conflicts 27

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

Predictors lean, ClinVar uncertain 282

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 282

Predictors split 86

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

All POMT2 variants

Pathogenic 63

  • c.1006+1G>A Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.924-2A>C Multiple submitters POMT2-related disorder
  • c.924-2A>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Ala351fs Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Arg349fs Multiple submitters
  • p.Arg413Ter Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Arg473Ter Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Arg588Ter Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Thr295fs Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Tyr213Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Tyr376fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.1006+1del Single submitter
  • c.1006+1G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.1117-1G>C Single submitter
  • c.1170_1171del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1484+1G>T Single submitter
  • c.1577-5_1577-1delinsTGA Single submitter muscular dystrophy
  • c.1726-2A>G Single submitter
  • c.2147+1G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Ala292fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Arg40fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Arg434fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Arg473fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Arg638Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Cys216Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Cys688Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Gln24fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Gln438Ter Single submitter
  • p.Gln499Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Glu415Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Glu519Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Glu544fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • p.Glu78Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • p.Gly146fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • p.Gly726Glu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Ile250fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • p.Ile387fs Single submitter
  • p.Leu128fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Leu175fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • p.Leu264fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Leu377Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Leu526Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Leu656fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Leu661fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Leu76Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Lys346Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Ser472fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Ser554fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Ser674fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Thr585fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Trp154Ter Single submitter
  • p.Trp47fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Trp497Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Trp598Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Trp647Ter Single submitter
  • p.Tyr437Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Tyr590fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Val345fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Val582fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Val643fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Arg421fs No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Gly246Asp No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • p.Val373Phe No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠

Pathogenic/Likely pathogenic 21

  • c.1333-14G>A Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.1726-1dup Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.1786-2A>T Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.248+1G>C Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.248+2T>C Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.333+1G>A Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.333+1G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.816+1G>T Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Arg421Trp Multiple submitters POMT2-related disorder
  • p.Asn553fs Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Gln320Ter Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Ile572fs Multiple submitters POMT2-related disorder
  • p.Lys43Ter Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Met432fs Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Phe147fs Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Thr184Met Multiple submitters POMT2-related disorder ⚠
  • p.Trp225fs Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Trp262Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Tyr666Cys Multiple submitters POMT2-related disorder
  • p.Tyr96Cys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • p.Val275fs Multiple submitters POMT2-related disorder

Likely pathogenic 61

  • c.1184-1G>C Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.1254-2A>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.1485-2_1485-1del Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.248+1G>A Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.248+1G>T Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Asn594Ser Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 ⚠
  • p.Asp449fs Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • p.Gln736fs Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Gly266Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Gly353Ser Multiple submitters POMT2-related disorder
  • p.Phe720fs Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Trp748Arg Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1006+1G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1183+1G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1253+1G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1253+5G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1329_1332+5del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1484+1G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1653+1G>A Single submitter
  • c.1653+1G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1654-2A>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.1891+1G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1891+1G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1891+2T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1892-1G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2032+1G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2144_2147+9delinsT Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.248+5G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.548-2A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.548-2del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.656+1G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Ala623fs Single submitter
  • p.Arg17fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Arg27fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Arg40Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Arg99Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Asp85fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Gln535fs Single submitter
  • p.Gly118fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Gly146Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Gly622fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Gly726Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • p.His569fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.His664Tyr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Leu542fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Leu607fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Leu63fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Lys388Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Lys557fs Single submitter POMT2-related disorder
  • p.Met144Arg Single submitter Abnormal brain morphology
  • p.Phe202Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Phe405fs Single submitter
  • p.Pro653fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Ser580Pro Single submitter POMT2-related disorder ⚠
  • p.Trp47Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Trp568Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Trp695Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Tyr725Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Val55fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Val589fs Single submitter
  • p.Asp104Val No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Conflicting classifications of pathogenicity 77

  • c.1006+4_1006+7del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1006+5G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.1117-7C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1332+13C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.1332+19T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1332+6_1332+9del Single submitter Inborn genetic diseases
  • c.1485-4A>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1654-10C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1654-8T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.1726-8T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1726-9A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.1726-9A>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1786-8C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2147+1del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2147+9C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.656+3C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.924-6C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*2151A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Ala217= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Ala217Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Ala28= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Ala29= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Ala34= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Ala430= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Ala627= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Arg349Trp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg413Pro Single submitter POMT2-related disorder ⚠
  • p.Arg421Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Arg466= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Arg624Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg659= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Arg659Gln Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg659Trp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg686Gln Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg99Cys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Asn561= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Asp218= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Asp77Asn Single submitter Inborn genetic diseases ⚠
  • p.Cys216= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Gln733fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Gln733Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Glu501Ala Single submitter POMT2-related disorder ⚠
  • p.Glu540= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Glu78Gln Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Gly185Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Gly22= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Gly238Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Gly581= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Gly640= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Gly741= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.His360= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.His416Gln Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 ⚠
  • p.His478Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Leu187Phe Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Leu291Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Leu543Met Single submitter Inborn genetic diseases ⚠
  • p.Lys417Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Lys468= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Met210Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Phe265= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Pro107= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Pro107Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Pro396Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro567= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Pro653Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Ser269Asn Single submitter Inborn genetic diseases ⚠
  • p.Thr297= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Thr297Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr564= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Tyr294Cys Single submitter autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Tyr339= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Tyr608= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Val275= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Val469= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Val635Ile Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Val643Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Val703Ala Single submitter Inborn genetic diseases ⚠

Benign 64

  • c.1006+148C>T Multiple submitters
  • c.1007-256G>A Multiple submitters
  • c.1007-282T>C Multiple submitters
  • c.1007-88A>G Multiple submitters
  • c.1116+165C>T Multiple submitters
  • c.1117-20C>T Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1184-152C>T Multiple submitters
  • c.1184-47A>C Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1484+136T>C Multiple submitters
  • c.1484+95A>G Multiple submitters
  • c.1576+55C>T Multiple submitters
  • c.1653+83A>C Multiple submitters
  • c.1654-41G>C Multiple submitters
  • c.1891+54A>G Multiple submitters
  • c.1892-164C>T Multiple submitters
  • c.2147+147G>A Multiple submitters
  • c.2148-18A>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.248+108C>A Multiple submitters
  • c.248+151G>A Multiple submitters
  • c.249-109A>G Multiple submitters
  • c.334-45T>C Multiple submitters
  • c.438+159A>T Multiple submitters
  • c.438+81C>T Multiple submitters
  • c.547+201T>C Multiple submitters
  • c.816+51T>C Multiple submitters
  • c.817-121C>T Multiple submitters
  • c.817-123T>C Multiple submitters
  • c.-124G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.-128C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.-64G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1058G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1137G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1501G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1516A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1742G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1748C>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1967C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1974G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*2325A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*587G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*75C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*790G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Ala54Glu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Arg461= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Leu637= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Tyr725= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1006+212A>G Single submitter
  • c.1006+261C>T Single submitter
  • c.1007-331_1007-329dup Single submitter
  • c.1007-346G>A Single submitter
  • c.1116+243T>G Single submitter
  • c.1117-7del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1577-8dup Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1653+266C>T Single submitter
  • c.1654-217A>G Single submitter
  • c.1654-248_1654-242dup Single submitter
  • c.438+267A>G Single submitter
  • c.548-11A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.656+136dup Single submitter
  • c.816+257_816+258dup Single submitter
  • c.816+257dup Single submitter
  • c.923+341A>G Single submitter
  • c.*1087C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Pro79= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Benign/Likely benign 12

  • c.1007-32G>A Multiple submitters
  • c.1116+35A>G Multiple submitters
  • c.1183+14A>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1654-6A>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1786-39C>T Multiple submitters
  • c.1891+49C>T Multiple submitters
  • c.656+16C>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.924-10C>T Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Asn513Asp Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Asp218Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Leu531= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Leu709= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N

Likely benign 476

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

  • c.1253+9A>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1254-7C>T Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1332+14G>A Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.1484+17T>C Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1577-8del Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1653+129C>T Multiple submitters
  • c.1653+38G>A Multiple submitters
  • c.1725+51G>C Multiple submitters
  • c.1726-15G>C Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1785+20C>T Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1786-18A>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1786-43A>C Multiple submitters
  • c.2033-20G>A Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2148-17C>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.248+18C>A Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.439-16T>C Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.439-45C>T Multiple submitters
  • c.439-6C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.548-77C>G Multiple submitters
  • c.816+8C>T Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.817-18G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.924-4A>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.*1337C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Ala704= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Arg282= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Asp312= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Gly30= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Leu644= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Leu661= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Leu671= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Pro224= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Pro399Ser Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Pro738= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Ser708= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1006+16C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1006+9C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1007-11C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1007-12C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1007-13C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1007-15C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.1007-17G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1007-20G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1007-20G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1007-4C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.1007-56C>T Single submitter
  • c.1007-9T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1116+10C>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1116+10C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1116+17T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1116+17T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1116+19C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.1116+267G>A Single submitter
  • c.1116+8A>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1117-11C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1117-12C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.1117-12C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1117-14C>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1117-14C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.1117-16CCCACCC[3] Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1117-17C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1117-19G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1117-19G>C Single submitter
  • c.1117-19G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1117-7C>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1117-7C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1183+11C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1183+13G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1183+257_1183+260del Single submitter
  • c.1183+67A>G Single submitter
  • c.1184-11C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1184-12T>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1184-14T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.1184-19G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1184-25A>G Single submitter
  • c.1184-288T>C Single submitter
  • c.1184-292C>G Single submitter
  • c.1184-5G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1253+13G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1253+16del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1253+20G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.1254-13_1254-12del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1254-16C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.1254-18C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.1254-6T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1254-9A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1332+10C>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1332+10del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1332+10dup Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.1332+12A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1332+17G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1332+19T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1332+20G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1332+8A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.1333-12C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.1333-12C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1333-13G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1333-16T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1333-17C>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1333-6T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1484+13G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1484+14G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1484+19G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1484+7C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1484+9C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1485-14T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1485-20G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1485-74G>C Single submitter
  • c.1576+13A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1576+14C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1576+20G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1577-13T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.1577-19C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1577-20C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.1577-3del Single submitter
  • c.1577-7C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1577-8T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.1653+10C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1653+11C>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1653+14T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1653+17C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.1653+20T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1654-11C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1654-12A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1654-13T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1654-15G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1654-4G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.1654-5T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1654-6A>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1654-7C>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1725+117G>C Single submitter
  • c.1725+11A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1725+14C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1725+15T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1725+17G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1725+18G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1725+19G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1725+8C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1725+9C>T Single submitter
  • c.1726-11C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1726-11C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1726-13C>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.1726-15G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.1726-19G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1726-20G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1785+15A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1785+17T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1785+6dup Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1785+7G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1785+8C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1786-12A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1786-15C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1786-4A>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.1786-4A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1786-5C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1786-7T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1891+12T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1891+13G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1891+14G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1891+15G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1891+165T>C Single submitter
  • c.1891+16C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1891+220C>T Single submitter
  • c.1892-11C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1892-14C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1892-15G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1892-16T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1892-17G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1892-5C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2032+14A>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2032+15C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2032+19G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2032+19G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2032+20_2032+25del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2032+7G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2032+8C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2033-11C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2033-12C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.2033-14C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2033-14C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2033-15T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2033-16C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2033-18T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2033-4C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.2033-6CT[3] Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2033-7C>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2147+10T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2147+13G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2147+14C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2147+15A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2147+7A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.2147+7A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.2148-14G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2148-15G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2148-20C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2148-6T>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.248+13A>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.248+325T>G Single submitter
  • c.248+6T>C Single submitter
  • c.248+9T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.249-11G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.249-15C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.249-16T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.249-18T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.249-19C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.249-19C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.249-8dup Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.333+10G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.333+188A>C Single submitter
  • c.333+18T>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.333+20G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.334-13C>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.334-16G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.334-35G>C Single submitter
  • c.334-8C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.438+12T>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.438+16T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.438+16T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.438+288G>C Single submitter
  • c.438+82G>T Single submitter
  • c.439-18del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.439-4A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.439-93G>A Single submitter
  • c.439-9C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.547+10C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.547+12T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.547+16del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.547+17A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.548-12C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.548-14C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.548-153C>T Single submitter
  • c.548-16A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.548-17G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.548-18C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.548-280G>A Single submitter
  • c.548-300G>A Single submitter
  • c.548-9G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.656+10T>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.656+17C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.656+18C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.656+19G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.656+20G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.656+20G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.656+9C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.657-144C>T Single submitter
  • c.657-14T>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.657-15C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.657-17G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.657-18_657-15del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.657-18C>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.657-18C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.657-20T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.657-4del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.657-4T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.657-7dup Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.657-9G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.816+13G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.816+14G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.816+20C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.817-105A>G Single submitter
  • c.817-10C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.817-12C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.817-14G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.817-15G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.817-19C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.817-20A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.817-4G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.923+12G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.923+12G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.923+14C>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • c.923+164T>C Single submitter
  • c.923+184del Single submitter
  • c.923+19C>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.923+20A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.923+7A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.923+8_923+11del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.923+8C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.923+9A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.924-12C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.924-12C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.924-16C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.924-5C>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.924-5C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.924-7C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.*1756C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1893G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*2091G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*5A>T Single submitter
  • p.Ala149= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Ala159= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Ala239= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Ala281= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Ala29Val Single submitter Inborn genetic diseases
  • p.Ala4= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Ala46= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Ala54= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Ala59= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Ala606= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Ala616= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • p.Ala618= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Ala693= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Uncertain significance 472

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

  • c.1116+4A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.1117-12C>G Multiple submitters myopathy caused by variation in POMT2
  • c.1183+6G>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.1332+4A>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1485-3C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Ala177Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala205Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Ala29Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala29Thr Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Ala321Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala368Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala54Thr Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Ala606Thr Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Ala616Thr Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Ala630Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Ala693Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Ala704Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg17Gln Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg17Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Arg282Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg282His Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg322Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg349Gln Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg369Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Arg369His Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg40Gly Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg413Gln Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg434Trp Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ⚠
  • p.Arg44del Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Arg455Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Arg455Trp Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg466Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Arg466Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Arg473Gln Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg475His Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg50Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg551Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg551Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Arg578Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg578His Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg588Gln Multiple submitters ⚠
  • p.Arg624Trp Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg638Gln Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg686Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Arg75His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg75Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Asn214His Multiple submitters Inborn genetic diseases ⚠
  • p.Asn214Lys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Asn330Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn513Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn523Thr Multiple submitters ⚠
  • p.Asn561Asp Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Asn98Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asp196Asn Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 ⚠
  • p.Asp398His Multiple submitters Inborn genetic diseases ⚠
  • p.Asp410Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Asp586Gly Multiple submitters ⚠
  • p.Cys21Arg Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Cys83Tyr Multiple submitters ⚠
  • p.Gln130Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln535Leu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Glu510Lys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Gly365Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly441Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly446Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Gly48Val Multiple submitters ⚠
  • p.Gly641Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly646Ser Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Gly691Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.His336Tyr Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.His424Arg Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.His436Tyr Multiple submitters ⚠
  • p.His546Pro Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.His702Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ile198Asn Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Ile249Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Ile615Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Ile82Phe Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Ile82Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu14Pro Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Leu286Phe Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Leu348Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Leu361Phe Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Leu610Phe Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Lys277Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Lys379Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Lys43Arg Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Lys462Asn Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Met142Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met207Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met207Thr Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Met675Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Met92Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Phe265Leu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Phe319Leu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Pro16Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Pro16Ser Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Pro220Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Pro23Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Pro334Ser Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Pro396Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro42Ser Multiple submitters ⚠
  • p.Pro45Arg Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Pro45Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro45Ser Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Pro567Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro567Ser Multiple submitters ⚠
  • p.Pro571Ser Multiple submitters myopathy caused by variation in POMT2 ⚠
  • p.Pro595Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro626Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Pro696Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Ser171Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Ser215Pro Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Ser269Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ser324Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser425Thr Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ⚠
  • p.Ser450Ala Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Thr257Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr295Arg Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Thr295Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Thr344Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Thr374Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Thr375Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr564Met Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Thr677Lys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Trp570Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Trp57Gly Multiple submitters ⚠
  • p.Trp695_Pro696delinsCysSer Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Trp695Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Tyr136His Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Tyr160Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Tyr381Cys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Tyr381His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Tyr574Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Val211Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Val345Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val484Ala Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Val518Met Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Val597Ala Multiple submitters Inborn genetic diseases
  • p.Val64Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val660Phe Multiple submitters Inborn genetic diseases
  • c.1006+10T>C Single submitter
  • c.1184-4_1184-3delinsTT Single submitter
  • c.1254-3T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1484+1_1484+3dup Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1484+5G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1576+10G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.1576+5G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1653+3A>T Single submitter
  • c.1653+4T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1653+5G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.1654-1652C>T Single submitter
  • c.1654-5T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.1725+13G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.1725+4G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.2147+2T>G Single submitter
  • c.2147+5G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.248+5G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.334-3C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.547+14G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.547+5G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.657-3C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.923+5A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • c.-136G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.-149C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.-176C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*103C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1043C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1053A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*119T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*11A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1252C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1265T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1285T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1317A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1317A>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*13G>T Single submitter
  • c.*1474G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1548G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1579C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*15T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1603C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1610T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1641C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1724C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1734A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1749C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*176C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1774C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1805G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1818T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*186C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*1906G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*196G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*2053C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*2072C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*2077T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*2080G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*2093A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*2165T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*2200G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*2359A>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*2369dup Single submitter
  • c.*2381A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*289G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*316C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*349G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*574T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*594G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*597C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*601G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*605C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*605C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*606G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*622C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*637C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*693C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*727C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*758G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*766C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*809G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • c.*927G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Ala159Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Ala178Asp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Ala206Pro Single submitter ⚠
  • p.Ala239Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Ala25Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Ala292Pro Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Ala296Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Ala299Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Ala29Gly Single submitter ⚠
  • p.Ala338Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Ala34Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Ala54Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Ala627Val Single submitter Inborn genetic diseases ⚠
  • p.Ala630Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Ala630Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala698Pro Single submitter ⚠
  • p.Ala70Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Ala714Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala724Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg15His Single submitter ⚠
  • p.Arg17Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg20Cys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg219Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg282Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg322Gly Single submitter ⚠
  • p.Arg349Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg369Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg434Gln Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg461Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg475Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg50Trp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg51His Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Arg638_Leu645del Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • p.Arg743Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg743Met Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N
  • p.Asn214Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn256Ile Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Asn347Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 ⚠
  • p.Asn347Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Asn422Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Asn465Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Asn523Ile Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Asn523Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Asn98His Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Asn98Thr Single submitter ⚠
  • p.Asp183Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Asp183Val Single submitter Inborn genetic diseases ⚠
  • p.Asp196Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Asp218Tyr Single submitter ⚠
  • p.Asp260Glu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Asp312Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp520Asn Single submitter ⚠
  • p.Asp734fs Single submitter
  • p.Cys186Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N ⚠
  • p.Cys186Trp Single submitter ⚠
  • p.Cys186Tyr Single submitter
  • p.Cys285Trp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Cys504Gly Single submitter ⚠
  • p.Cys83Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 ⚠
  • p.Gln252= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • p.Gln370Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Gln499His Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Glu13Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Glu364Lys Single submitter ⚠
  • p.Glu36Gln Single submitter ⚠
  • p.Glu404Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Gly110Glu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Gly115Ala Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Gly122Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly276Glu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Gly309Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Gly313Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Gly340Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 ⚠
  • p.Gly353Asp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Gly353Cys Single submitter ⚠
  • p.Gly367Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly482Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ⚠
  • p.Gly489= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2N