Sugi Variant

Sugi Variant/AGL

AGL — 2898 ClinVar variants

All ClinVar germline AGL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 954 flagged for review →

246 Pathogenic · 102 Pathogenic/Likely pathogenic · 239 Likely pathogenic · 72 Conflicting · 96 Benign · 21 Benign/Likely benign · 1078 Likely benign · 1044 Uncertain significance

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

⚑ Evidence disagreements 954

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 2

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

Predictors agree, ClinVar conflicts 28

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

Predictors lean, ClinVar uncertain 560

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 560

Predictors split 364

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 364

All AGL variants

Pathogenic 246

  • c.1423+1G>A Multiple submitters glycogen storage disease III
  • c.1423+1G>C Multiple submitters glycogen storage disease III
  • c.2309-1G>A Multiple submitters Glycogen storage disease IIIa
  • c.2681+1G>A Multiple submitters AGL-related disorder
  • c.3481_3589-407del Multiple submitters glycogen storage disease III
  • c.958+1G>A Multiple submitters glycogen storage disease III
  • p.Ala117fs Multiple submitters glycogen storage disease III
  • p.Ala1222fs Multiple submitters glycogen storage disease III
  • p.Ala1400fs Multiple submitters glycogen storage disease III
  • p.Arg1218Ter Multiple submitters glycogen storage disease III
  • p.Arg285Ter Multiple submitters glycogen storage disease III
  • p.Arg34Ter Multiple submitters glycogen storage disease III
  • p.Arg408Ter Multiple submitters Glycogen storage disease IIIa
  • p.Arg524His Multiple submitters glycogen storage disease III
  • p.Arg595Ter Multiple submitters glycogen storage disease III
  • p.Arg864Ter Multiple submitters Acute rhabdomyolysis
  • p.Arg898fs Multiple submitters glycogen storage disease III
  • p.Arg910Ter Multiple submitters glycogen storage disease III
  • p.Arg977Ter Multiple submitters glycogen storage disease III
  • p.Asp251fs Multiple submitters glycogen storage disease III
  • p.Asp501fs Multiple submitters disorder of glycogen metabolism
  • p.Gln1079Ter Multiple submitters glycogen storage disease III
  • p.Gln1162Ter Multiple submitters glycogen storage disease III
  • p.Gln1205Ter Multiple submitters glycogen storage disease III
  • p.Gln199Ter Multiple submitters glycogen storage disease III
  • p.Gln393Ter Multiple submitters AGL-related disorder
  • p.Gln395Ter Multiple submitters glycogen storage disease III
  • p.Gln40Ter Multiple submitters glycogen storage disease III
  • p.Gln667Ter Multiple submitters glycogen storage disease III
  • p.Gln695Ter Multiple submitters glycogen storage disease III
  • p.Gln92fs Multiple submitters glycogen storage disease III
  • p.Gln97Ter Multiple submitters glycogen storage disease III
  • p.Glu1072fs Multiple submitters Glycogen storage disease IIIa
  • p.Glu340fs Multiple submitters glycogen storage disease III
  • p.Gly1442fs Multiple submitters glycogen storage disease III
  • p.Leu147fs Multiple submitters glycogen storage disease III
  • p.Leu168fs Multiple submitters glycogen storage disease III
  • p.Leu22fs Multiple submitters glycogen storage disease III
  • p.Leu35Ter Multiple submitters glycogen storage disease III
  • p.Lys205Ter Multiple submitters glycogen storage disease III
  • p.Pro999fs Multiple submitters glycogen storage disease III
  • p.Ser1060Ter Multiple submitters glycogen storage disease III
  • p.Ser1323_Tyr1324insTer Multiple submitters glycogen storage disease III
  • p.Ser1486fs Multiple submitters glycogen storage disease III
  • p.Ser530Ter Multiple submitters glycogen storage disease III
  • p.Thr1185fs Multiple submitters glycogen storage disease III
  • p.Thr334fs Multiple submitters Inborn genetic diseases
  • p.Thr825fs Multiple submitters glycogen storage disease III
  • p.Trp1099Ter Multiple submitters glycogen storage disease III
  • p.Trp1327Ter Multiple submitters Autosomal recessive AGL-related disorders
  • p.Trp461_Val462insTer Multiple submitters glycogen storage disease III
  • p.Trp987Ter Multiple submitters glycogen storage disease III
  • p.Tyr1068_Arg1069delinsTer Multiple submitters glycogen storage disease III
  • p.Tyr1428Ter Multiple submitters glycogen storage disease III
  • p.Tyr1457Ter Multiple submitters glycogen storage disease III
  • p.Tyr192Ter Multiple submitters glycogen storage disease III
  • p.Tyr512fs Multiple submitters glycogen storage disease III
  • p.Val1322fs Multiple submitters glycogen storage disease III
  • c.1083-1G>A Single submitter glycogen storage disease III
  • c.1083-2A>G Single submitter Glycogen storage disease IIIa
  • c.1735+1_1735+15del Single submitter glycogen storage disease III
  • c.1735+1G>A Single submitter glycogen storage disease III
  • c.1900-2A>G Single submitter glycogen storage disease III
  • c.2001+5G>A Single submitter glycogen storage disease III
  • c.2157+1G>T Single submitter glycogen storage disease III
  • c.2158-1G>A Single submitter
  • c.2433+2T>C Single submitter glycogen storage disease III
  • c.2546+1G>A Single submitter glycogen storage disease III
  • c.2546+1G>T Single submitter glycogen storage disease III
  • c.2681+1G>C Single submitter glycogen storage disease III
  • c.2681+2T>G Single submitter glycogen storage disease III
  • c.2682-8A>G Single submitter glycogen storage disease III
  • c.293+2T>G Single submitter glycogen storage disease III
  • c.2950-2A>G Single submitter Glycogen storage disease IIIa
  • c.3259+927A>G Single submitter glycogen storage disease III
  • c.3481_3589-405del Single submitter glycogen storage disease III
  • c.3588+1G>A Single submitter glycogen storage disease III
  • c.3836+1G>A Single submitter glycogen storage disease III
  • c.3837-1G>A Single submitter Glycogen storage disease IIIa
  • c.4161+5G>A Single submitter glycogen storage disease III
  • c.4260-1G>T Single submitter glycogen storage disease III
  • c.4260-2A>C Single submitter glycogen storage disease III
  • c.4347+1G>A Single submitter glycogen storage disease III
  • c.4347+1G>C Single submitter glycogen storage disease III
  • c.4481+1G>T Single submitter glycogen storage disease III
  • c.461-2A>G Single submitter glycogen storage disease III
  • c.958+1G>T Single submitter glycogen storage disease III
  • p.Ala1106fs Single submitter glycogen storage disease III
  • p.Ala1153fs Single submitter glycogen storage disease III
  • p.Ala1239delinsIleTer Single submitter glycogen storage disease III
  • p.Ala176fs Single submitter glycogen storage disease III
  • p.Arg1097fs Single submitter glycogen storage disease III
  • p.Arg1147fs Single submitter glycogen storage disease III
  • p.Arg1253fs Single submitter glycogen storage disease III
  • p.Arg146fs Single submitter glycogen storage disease III
  • p.Arg285fs Single submitter glycogen storage disease III
  • p.Arg323fs Single submitter glycogen storage disease III
  • p.Arg342fs Single submitter
  • p.Arg34fs Single submitter glycogen storage disease III
  • p.Arg494_Tyr495insTer Single submitter
  • p.Arg59fs Single submitter glycogen storage disease III
  • p.Arg658Ter Single submitter glycogen storage disease III
  • p.Asn177fs Single submitter glycogen storage disease III
  • p.Asn240fs Single submitter glycogen storage disease III
  • p.Asn459fs Single submitter glycogen storage disease III
  • p.Asn69fs Single submitter glycogen storage disease III
  • p.Asn785fs Single submitter glycogen storage disease III
  • p.Asn905fs Single submitter
  • p.Asp110fs Single submitter glycogen storage disease III
  • p.Asp1420fs Single submitter glycogen storage disease III
  • p.Asp465fs Single submitter glycogen storage disease III
  • p.Asp564fs Single submitter glycogen storage disease III
  • p.Asp723fs Single submitter glycogen storage disease III
  • p.Cys1373_Asp1374delinsTer Single submitter glycogen storage disease III
  • p.Cys212fs Single submitter glycogen storage disease III
  • p.Cys502fs Single submitter glycogen storage disease III
  • p.Gln1025fs Single submitter glycogen storage disease III
  • p.Gln1209Ter Single submitter glycogen storage disease III
  • p.Gln1213Ter Single submitter glycogen storage disease III
  • p.Gln130Ter Single submitter glycogen storage disease III
  • p.Gln1447Ter Single submitter glycogen storage disease III
  • p.Gln319Ter Single submitter glycogen storage disease III
  • p.Gln547Ter Single submitter glycogen storage disease III
  • p.Gln741Ter Single submitter glycogen storage disease III
  • p.Gln765Ter Single submitter glycogen storage disease III
  • p.Gln820Ter Single submitter glycogen storage disease III
  • p.Gln833fs Single submitter glycogen storage disease III
  • p.Gln833Ter Single submitter glycogen storage disease III
  • p.Glu1072Ter Single submitter glycogen storage disease III
  • p.Glu1233Ter Single submitter glycogen storage disease III
  • p.Glu1310Ter Single submitter glycogen storage disease III
  • p.Glu1326fs Single submitter glycogen storage disease III
  • p.Glu1343Ter Single submitter glycogen storage disease III
  • p.Glu14Ter Single submitter glycogen storage disease III
  • p.Glu19fs Single submitter glycogen storage disease III
  • p.Glu368fs Single submitter glycogen storage disease III
  • p.Glu394Ter Single submitter glycogen storage disease III
  • p.Glu500fs Single submitter glycogen storage disease III
  • p.Glu774Ter Single submitter glycogen storage disease III
  • p.Glu834fs Single submitter glycogen storage disease III
  • p.Glu903Ter Single submitter glycogen storage disease III
  • p.Gly1100Glu Single submitter glycogen storage disease III
  • p.Gly1250fs Single submitter glycogen storage disease III
  • p.Gly1413fs Single submitter glycogen storage disease III
  • p.Gly411fs Single submitter glycogen storage disease III
  • p.Gly522fs Single submitter glycogen storage disease III
  • p.Gly798delinsAlaLeuTer Single submitter glycogen storage disease III
  • p.Gly979fs Single submitter glycogen storage disease III
  • p.His392fs Single submitter glycogen storage disease III
  • p.His735fs Single submitter glycogen storage disease III
  • p.Ile1012fs Single submitter glycogen storage disease III
  • p.Ile275fs Single submitter glycogen storage disease III
  • p.Ile573fs Single submitter glycogen storage disease III
  • p.Ile624fs Single submitter glycogen storage disease III
  • p.Ile699fs Single submitter glycogen storage disease III
  • p.Ile782fs Single submitter glycogen storage disease III
  • p.Ile832fs Single submitter glycogen storage disease III
  • p.Ile9fs Single submitter glycogen storage disease III
  • p.Leu1088fs Single submitter glycogen storage disease III
  • p.Leu11_Leu12insTer Single submitter glycogen storage disease III
  • p.Leu1125Ter Single submitter glycogen storage disease III
  • p.Leu1172fs Single submitter glycogen storage disease III
  • p.Leu1348Ter Single submitter glycogen storage disease III
  • p.Leu137fs Single submitter glycogen storage disease III
  • p.Leu1417Ter Single submitter glycogen storage disease III
  • p.Leu163Ter Single submitter glycogen storage disease III
  • p.Leu25fs Single submitter glycogen storage disease III
  • p.Leu381_Glu384delinsTer Single submitter glycogen storage disease III
  • p.Leu505fs Single submitter glycogen storage disease III
  • p.Leu612Ter Single submitter glycogen storage disease III
  • p.Leu988fs Single submitter glycogen storage disease III
  • p.Lys1038Ter Single submitter glycogen storage disease III
  • p.Lys1291Ter Single submitter glycogen storage disease III
  • p.Lys1363Ter Single submitter glycogen storage disease III
  • p.Lys1407fs Single submitter glycogen storage disease III
  • p.Lys203fs Single submitter glycogen storage disease III
  • p.Lys265fs Single submitter glycogen storage disease III
  • p.Lys269fs Single submitter glycogen storage disease III
  • p.Lys297fs Single submitter glycogen storage disease III
  • p.Lys297Ter Single submitter glycogen storage disease III
  • p.Lys326fs Single submitter glycogen storage disease III
  • p.Lys715fs Single submitter glycogen storage disease III
  • p.Lys755fs Single submitter glycogen storage disease III
  • p.Lys932fs Single submitter glycogen storage disease III
  • p.Met1064fs Single submitter glycogen storage disease III
  • p.Phe140fs Single submitter glycogen storage disease III
  • p.Phe313fs Single submitter glycogen storage disease III
  • p.Phe357fs Single submitter glycogen storage disease III
  • p.Phe471fs Single submitter glycogen storage disease III
  • p.Phe567fs Single submitter glycogen storage disease III
  • p.Phe717fs Single submitter glycogen storage disease III
  • p.Pro1501fs Single submitter glycogen storage disease III
  • p.Pro433fs Single submitter glycogen storage disease III
  • p.Pro53fs Single submitter glycogen storage disease III
  • p.Pro800fs Single submitter glycogen storage disease III
  • p.Pro842fs Single submitter glycogen storage disease III
  • p.Ser1180fs Single submitter Acute rhabdomyolysis
  • p.Ser1342fs Single submitter glycogen storage disease III
  • p.Ser153Ter Single submitter glycogen storage disease III
  • p.Ser225Ter Single submitter glycogen storage disease III
  • p.Ser490fs Single submitter glycogen storage disease III
  • p.Ser530fs Single submitter Abnormality of metabolism/homeostasis
  • p.Ser760fs Single submitter glycogen storage disease III
  • p.Thr1017fs Single submitter glycogen storage disease III
  • p.Thr128fs Single submitter glycogen storage disease III
  • p.Thr1393fs Single submitter glycogen storage disease III
  • p.Thr1474fs Single submitter glycogen storage disease III
  • p.Thr193_Trp194insTer Single submitter glycogen storage disease III
  • p.Thr420fs Single submitter glycogen storage disease III
  • p.Thr45fs Single submitter glycogen storage disease III
  • p.Thr56_Phe57insTer Single submitter glycogen storage disease III
  • p.Trp1155Ter Single submitter glycogen storage disease III
  • p.Trp1157Ter Single submitter glycogen storage disease III
  • p.Trp1259_Met1260delinsTer Single submitter glycogen storage disease III
  • p.Trp1451fs Single submitter glycogen storage disease III
  • p.Trp1451Ter Single submitter glycogen storage disease III
  • p.Trp1497Ter Single submitter glycogen storage disease III
  • p.Trp194fs Single submitter glycogen storage disease III
  • p.Trp255Ter Single submitter glycogen storage disease III
  • p.Trp299fs Single submitter glycogen storage disease III
  • p.Trp461Ter Single submitter glycogen storage disease III
  • p.Tyr1001Ter Single submitter glycogen storage disease III
  • p.Tyr1006Ter Single submitter glycogen storage disease III
  • p.Tyr1145fs Single submitter glycogen storage disease III
  • p.Tyr1164Ter Single submitter glycogen storage disease III
  • p.Tyr1183Ter Single submitter glycogen storage disease III
  • p.Tyr1375Ter Single submitter glycogen storage disease III
  • p.Tyr1424fs Single submitter glycogen storage disease III
  • p.Tyr1437Ter Single submitter glycogen storage disease III
  • p.Tyr1464fs Single submitter glycogen storage disease III
  • p.Tyr218Ter Single submitter glycogen storage disease III
  • p.Tyr504Ter Single submitter glycogen storage disease III
  • p.Tyr50fs Single submitter glycogen storage disease III
  • p.Tyr512_Thr513insTer Single submitter glycogen storage disease III
  • p.Tyr538Ter Single submitter glycogen storage disease III
  • p.Tyr596Ter Single submitter glycogen storage disease III
  • p.Tyr677Ter Single submitter glycogen storage disease III
  • p.Tyr94fs Single submitter glycogen storage disease III
  • p.Tyr969fs Single submitter glycogen storage disease III
  • p.Val1045fs Single submitter glycogen storage disease III
  • p.Val419fs Single submitter glycogen storage disease III
  • p.Val860fs Single submitter glycogen storage disease III
  • p.Val942fs Single submitter glycogen storage disease III
  • p.Arg1147Gly No assertion criteria Glycogen storage disease IIIc
  • p.Gln667fs No assertion criteria Glycogen storage disease IIIb
  • p.Gly1448Arg No assertion criteria Glycogen storage disease IIIa

Pathogenic/Likely pathogenic 102

  • c.1423+1G>T Multiple submitters glycogen storage disease III
  • c.1612-1G>A Multiple submitters glycogen storage disease III
  • c.1735+1G>T Multiple submitters glycogen storage disease III
  • c.1736-11A>G Multiple submitters glycogen storage disease III
  • c.2681+1G>T Multiple submitters Inborn genetic diseases
  • c.293+1del Multiple submitters glycogen storage disease III
  • c.293+1G>T Multiple submitters glycogen storage disease III
  • c.294-2A>T Multiple submitters glycogen storage disease III
  • c.2950-1G>C Multiple submitters glycogen storage disease III
  • c.3259+1G>A Multiple submitters glycogen storage disease III
  • c.3362+1G>A Multiple submitters glycogen storage disease III
  • c.3362+2T>C Multiple submitters glycogen storage disease III
  • c.3588_3588+14del Multiple submitters glycogen storage disease III
  • c.3589-1G>A Multiple submitters glycogen storage disease III
  • c.3589-3C>G Multiple submitters glycogen storage disease III
  • c.4260-12A>G Multiple submitters AGL-related disorder
  • c.664+3A>G Multiple submitters Glycogen storage disease IIIa
  • p.Ala1388_Pro1389insTer Multiple submitters glycogen storage disease III
  • p.Ala1475fs Multiple submitters glycogen storage disease III
  • p.Arg1228Ter Multiple submitters glycogen storage disease III
  • p.Arg1270Ter Multiple submitters glycogen storage disease III
  • p.Arg1487Ter Multiple submitters disorder of glycogen metabolism
  • p.Arg323Ter Multiple submitters glycogen storage disease III
  • p.Arg387Ter Multiple submitters glycogen storage disease III
  • p.Arg469Ter Multiple submitters glycogen storage disease III
  • p.Arg610fs Multiple submitters glycogen storage disease III
  • p.Arg675fs Multiple submitters glycogen storage disease III
  • p.Arg784fs Multiple submitters glycogen storage disease III
  • p.Arg8fs Multiple submitters glycogen storage disease III
  • p.Arg8Ter Multiple submitters glycogen storage disease III
  • p.Asn1221fs Multiple submitters glycogen storage disease III
  • p.Asn1304fs Multiple submitters glycogen storage disease III
  • p.Asn13fs Multiple submitters glycogen storage disease III
  • p.Asn1483fs Multiple submitters glycogen storage disease III
  • p.Asn224fs Multiple submitters glycogen storage disease III
  • p.Asn390fs Multiple submitters glycogen storage disease III
  • p.Asn84fs Multiple submitters glycogen storage disease III
  • p.Cys1005fs Multiple submitters glycogen storage disease III
  • p.Cys126Ter Multiple submitters glycogen storage disease III
  • p.Gln1031Ter Multiple submitters glycogen storage disease III
  • p.Gln1376Ter Multiple submitters glycogen storage disease III
  • p.Gln1509fs Multiple submitters glycogen storage disease III
  • p.Gln1509Ter Multiple submitters glycogen storage disease III
  • p.Gln199fs Multiple submitters glycogen storage disease III
  • p.Gln229Ter Multiple submitters glycogen storage disease III
  • p.Gln303Ter Multiple submitters glycogen storage disease III
  • p.Gln32Ter Multiple submitters glycogen storage disease III
  • p.Gln6fs Multiple submitters glycogen storage disease III
  • p.Gln6Ter Multiple submitters glycogen storage disease III
  • p.Gln719Ter Multiple submitters glycogen storage disease III
  • p.Gln741fs Multiple submitters glycogen storage disease III
  • p.Gln820fs Multiple submitters glycogen storage disease III
  • p.Gln869Ter Multiple submitters glycogen storage disease III
  • p.Gln86Ter Multiple submitters Glycogen storage disease IIIa
  • p.Gln997Ter Multiple submitters glycogen storage disease III
  • p.Glu1076fs Multiple submitters glycogen storage disease III
  • p.Glu1450Ter Multiple submitters glycogen storage disease III
  • p.Glu1502fs Multiple submitters glycogen storage disease III
  • p.Glu152Ter Multiple submitters glycogen storage disease III
  • p.Glu369fs Multiple submitters glycogen storage disease III
  • p.Glu72fs Multiple submitters glycogen storage disease III
  • p.Glu74_Asp75insTer Multiple submitters glycogen storage disease III
  • p.Gly1100fs Multiple submitters glycogen storage disease III
  • p.Gly1273fs Multiple submitters glycogen storage disease III
  • p.Gly1367fs Multiple submitters glycogen storage disease III
  • p.Gly270Ter Multiple submitters glycogen storage disease III
  • p.His360Tyr Multiple submitters glycogen storage disease III ⚠
  • p.His666_Gln667delinsTer Multiple submitters glycogen storage disease III
  • p.Ile288fs Multiple submitters glycogen storage disease III
  • p.Ile336fs Multiple submitters glycogen storage disease III
  • p.Ile847fs Multiple submitters glycogen storage disease III
  • p.Leu1408fs Multiple submitters glycogen storage disease III
  • p.Leu179fs Multiple submitters glycogen storage disease III
  • p.Leu298fs Multiple submitters glycogen storage disease III
  • p.Leu316fs Multiple submitters glycogen storage disease III
  • p.Leu546Ter Multiple submitters glycogen storage disease III
  • p.Leu550Ter Multiple submitters glycogen storage disease III
  • p.Leu563fs Multiple submitters glycogen storage disease III
  • p.Lys1077fs Multiple submitters glycogen storage disease III
  • p.Lys1210fs Multiple submitters glycogen storage disease III
  • p.Lys415Ter Multiple submitters glycogen storage disease III
  • p.Lys679fs Multiple submitters glycogen storage disease III
  • p.Met157fs Multiple submitters glycogen storage disease III
  • p.Pro1004fs Multiple submitters glycogen storage disease III
  • p.Pro891fs Multiple submitters glycogen storage disease III
  • p.Ser383Ter Multiple submitters glycogen storage disease III
  • p.Ser636Ter Multiple submitters glycogen storage disease III
  • p.Ser648fs Multiple submitters glycogen storage disease III
  • p.Ser738fs Multiple submitters glycogen storage disease III
  • p.Thr1258fs Multiple submitters glycogen storage disease III
  • p.Trp1372Ter Multiple submitters glycogen storage disease III
  • p.Trp1398Ter Multiple submitters glycogen storage disease III
  • p.Trp1451Cys Multiple submitters glycogen storage disease III
  • p.Trp680Ter Multiple submitters Glycogen storage disease IIIa
  • p.Tyr1510Ter Multiple submitters Inborn genetic diseases
  • p.Tyr406Ter Multiple submitters glycogen storage disease III
  • p.Tyr479Ter Multiple submitters glycogen storage disease III
  • p.Tyr909Ter Multiple submitters glycogen storage disease III
  • p.Tyr933Ter Multiple submitters glycogen storage disease III
  • p.Val1030fs Multiple submitters glycogen storage disease III
  • p.Val348fs Multiple submitters glycogen storage disease III
  • p.Val593fs Multiple submitters glycogen storage disease III

Likely pathogenic 239

Conflicting classifications of pathogenicity 72

Benign 96

Benign/Likely benign 21

  • c.2546+10T>C Multiple submitters glycogen storage disease III
  • c.2949+20C>T Multiple submitters glycogen storage disease III
  • c.3084-8T>C Multiple submitters glycogen storage disease III
  • c.3259+26A>G Multiple submitters
  • c.3588+36T>G Multiple submitters glycogen storage disease III
  • c.82+1565T>G Multiple submitters glycogen storage disease III
  • p.Ala1128= Multiple submitters glycogen storage disease III
  • p.Arg1253His Multiple submitters glycogen storage disease III ⚠
  • p.Arg494His Multiple submitters glycogen storage disease III ⚠
  • p.Arg961= Multiple submitters glycogen storage disease III
  • p.Asn13= Multiple submitters glycogen storage disease III
  • p.Glu1343Lys Multiple submitters glycogen storage disease III ⚠
  • p.Gly1264= Multiple submitters glycogen storage disease III
  • p.His534= Multiple submitters glycogen storage disease III
  • p.Lys385Asn Multiple submitters glycogen storage disease III
  • p.Ser440Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ser760= Multiple submitters glycogen storage disease III
  • p.Ser841Phe Multiple submitters Inborn genetic diseases
  • p.Thr1477Ser Multiple submitters glycogen storage disease III ⚠
  • p.Thr38Ala Multiple submitters glycogen storage disease III
  • p.Tyr1068Cys Multiple submitters glycogen storage disease III

Likely benign 1078

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

Uncertain significance 1044

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