PYGM — 1508 ClinVar variants

Pathogenic 93

• c.1239_1239+1delinsAT Multiple submitters glycogen storage disease V
• c.1403+1G>A Multiple submitters glycogen storage disease V
• p.Ala452fs Multiple submitters glycogen storage disease V
• p.Ala55fs Multiple submitters glycogen storage disease V
• p.Arg650Ter Multiple submitters glycogen storage disease V
• p.Arg94Trp Multiple submitters glycogen storage disease V
• p.Gln169Ter Multiple submitters glycogen storage disease V
• p.Glu125fs Multiple submitters glycogen storage disease V
• p.Glu27fs Multiple submitters PYGM-related disorder
• p.Glu797fs Multiple submitters glycogen storage disease V
• p.Gly136fs Multiple submitters glycogen storage disease V
• p.Gly695Arg Multiple submitters disorder of glycogen metabolism
• p.Leu493fs Multiple submitters glycogen storage disease V
• p.Leu5fs Multiple submitters glycogen storage disease V
• p.Lys609= Multiple submitters glycogen storage disease V
• p.Met1Leu Multiple submitters glycogen storage disease V
• p.Met1Val Multiple submitters glycogen storage disease V
• p.Ser211fs Multiple submitters glycogen storage disease V
• p.Thr692fs Multiple submitters glycogen storage disease V
• p.Trp388fs Multiple submitters glycogen storage disease V
• p.Tyr733Ter Multiple submitters glycogen storage disease V
• p.Tyr75Ter Multiple submitters glycogen storage disease V
• p.Tyr85Ter Multiple submitters PYGM-related disorder
• c.1403+2T>C Single submitter glycogen storage disease V
• c.1970-1G>A Single submitter glycogen storage disease V
• c.772+1G>T Single submitter glycogen storage disease V
• c.772+2_772+3del Single submitter glycogen storage disease V
• c.773-2A>T Single submitter glycogen storage disease V
• p.Ala155fs Single submitter glycogen storage disease V
• p.Ala448fs Single submitter glycogen storage disease V
• p.Ala696fs Single submitter glycogen storage disease V
• p.Arg11fs Single submitter glycogen storage disease V
• p.Arg185_Tyr186insTer Single submitter glycogen storage disease V
• p.Arg387fs Single submitter glycogen storage disease V
• p.Arg650fs Single submitter glycogen storage disease V
• p.Asn259fs Single submitter glycogen storage disease V
• p.Asn559fs Single submitter glycogen storage disease V
• p.Asn728fs Single submitter glycogen storage disease V
• p.Asp307fs Single submitter glycogen storage disease V
• p.Asp43fs Single submitter glycogen storage disease V
• p.Asp718fs Single submitter glycogen storage disease V
• p.Gln337Ter Single submitter glycogen storage disease V
• p.Gln666Ter Single submitter glycogen storage disease V
• p.Gln730fs Single submitter glycogen storage disease V
• p.Gln755fs Single submitter glycogen storage disease V
• p.Glu124Ter Single submitter glycogen storage disease V
• p.Glu358fs Single submitter glycogen storage disease V
• p.Glu553Ter Single submitter glycogen storage disease V
• p.Glu797_Trp798insTer Single submitter glycogen storage disease V
• p.Gly133fs Single submitter glycogen storage disease V
• p.Gly165fs Single submitter glycogen storage disease V
• p.Gly174fs Single submitter glycogen storage disease V
• p.Gly705fs Single submitter glycogen storage disease V
• p.His37fs Single submitter glycogen storage disease V
• p.His451_Ala457del Single submitter glycogen storage disease V
• p.Ile459fs Single submitter glycogen storage disease V
• p.Ile508fs Single submitter glycogen storage disease V
• p.Ile621fs Single submitter glycogen storage disease V
• p.Leu132fs Single submitter glycogen storage disease V
• p.Leu19fs Single submitter glycogen storage disease V
• p.Leu244fs Single submitter glycogen storage disease V
• p.Leu268fs Single submitter glycogen storage disease V
• p.Leu653fs Single submitter glycogen storage disease V
• p.Leu791fs Single submitter glycogen storage disease V
• p.Lys521Ter Single submitter glycogen storage disease V
• p.Lys592Ter Single submitter glycogen storage disease V
• p.Met1Ile Single submitter glycogen storage disease V
• p.Met619fs Single submitter glycogen storage disease V
• p.Phe38fs Single submitter glycogen storage disease V
• p.Ser15fs Single submitter glycogen storage disease V
• p.Thr372fs Single submitter glycogen storage disease V
• p.Thr48fs Single submitter glycogen storage disease V
• p.Thr817fs Single submitter glycogen storage disease V
• p.Trp175fs Single submitter glycogen storage disease V
• p.Trp190Ter Single submitter glycogen storage disease V
• p.Trp216Ter Single submitter glycogen storage disease V
• p.Trp245Ter Single submitter glycogen storage disease V
• p.Trp366Ter Single submitter glycogen storage disease V
• p.Tyr114fs Single submitter glycogen storage disease V
• p.Tyr186Ter Single submitter glycogen storage disease V
• p.Tyr227Ter Single submitter glycogen storage disease V
• p.Tyr234fs Single submitter glycogen storage disease V
• p.Tyr405Ter Single submitter glycogen storage disease V
• p.Tyr53fs Single submitter glycogen storage disease V
• p.Tyr588fs Single submitter glycogen storage disease V
• p.Tyr76Ter Single submitter glycogen storage disease V
• p.Val380fs Single submitter glycogen storage disease V
• p.Val41fs Single submitter glycogen storage disease V
• p.Val453fs Single submitter glycogen storage disease V
• p.Val774fs Single submitter glycogen storage disease V
• p.Glu541Ter No assertion criteria glycogen storage disease V
• p.Leu396Pro No assertion criteria glycogen storage disease V
• p.Lys575fs No assertion criteria glycogen storage disease V

Pathogenic/Likely pathogenic 63

• c.1239+1G>A Multiple submitters PYGM-related disorder
• c.1768+1G>A Multiple submitters PYGM-related disorder
• c.1768+2T>G Multiple submitters glycogen storage disease V
• c.1970-2A>T Multiple submitters glycogen storage disease V
• c.2178-1G>A Multiple submitters glycogen storage disease V
• c.2379+2_2379+3delinsAT Multiple submitters glycogen storage disease V
• c.2380-1G>A Multiple submitters glycogen storage disease V
• c.345+2T>A Multiple submitters glycogen storage disease V
• c.425-26A>G Multiple submitters glycogen storage disease V
• c.425-2A>G Multiple submitters glycogen storage disease V
• c.661-601G>A Multiple submitters glycogen storage disease V
• p.Ala704Val Multiple submitters glycogen storage disease V ⚠
• p.Arg139Trp Multiple submitters glycogen storage disease V
• p.Arg161_Tyr162insTer Multiple submitters glycogen storage disease V
• p.Arg194fs Multiple submitters glycogen storage disease V
• p.Arg270Ter Multiple submitters Acute rhabdomyolysis
• p.Arg490fs Multiple submitters glycogen storage disease V
• p.Arg490Gln Multiple submitters glycogen storage disease V
• p.Arg50Ter Multiple submitters Skeletal muscle channelopathy
• p.Arg570Gln Multiple submitters PYGM-related disorder
• p.Arg576Ter Multiple submitters glycogen storage disease V
• p.Arg771Gln Multiple submitters glycogen storage disease V ⚠
• p.Asn168Ter Multiple submitters glycogen storage disease V
• p.Asn454_Leu464del Multiple submitters glycogen storage disease V
• p.Cys373Ter Multiple submitters glycogen storage disease V
• p.Cys784Ter Multiple submitters PYGM-related disorder
• p.Gln220fs Multiple submitters glycogen storage disease V
• p.Gln220Ter Multiple submitters glycogen storage disease V
• p.Glu349Lys Multiple submitters glycogen storage disease V
• p.Glu383Lys Multiple submitters PYGM-related disorder
• p.Glu573Ter Multiple submitters glycogen storage disease V
• p.Glu655Lys Multiple submitters glycogen storage disease V
• p.Gly455Arg Multiple submitters glycogen storage disease V
• p.Gly686Arg Multiple submitters PYGM-related disorder
• p.Ile308fs Multiple submitters glycogen storage disease V
• p.Leu116Pro Multiple submitters glycogen storage disease V
• p.Leu397Pro Multiple submitters glycogen storage disease V
• p.Leu516fs Multiple submitters glycogen storage disease V
• p.Leu587Pro Multiple submitters glycogen storage disease V
• p.Lys10fs Multiple submitters glycogen storage disease V
• p.Lys170del Multiple submitters glycogen storage disease V
• p.Lys42fs Multiple submitters glycogen storage disease V
• p.Lys543Thr Multiple submitters glycogen storage disease V
• p.Lys754fs Multiple submitters PYGM-related disorder
• p.Met351fs Multiple submitters glycogen storage disease V
• p.Phe599fs Multiple submitters PYGM-related disorder
• p.Phe710del Multiple submitters glycogen storage disease V
• p.Phe759fs Multiple submitters glycogen storage disease V
• p.Pro230fs Multiple submitters glycogen storage disease V
• p.Pro489Arg Multiple submitters glycogen storage disease V
• p.Ser430fs Multiple submitters glycogen storage disease V
• p.Ser87fs Multiple submitters glycogen storage disease V
• p.Trp183Ter Multiple submitters glycogen storage disease V
• p.Trp492Ter Multiple submitters glycogen storage disease V
• p.Trp68Ter Multiple submitters glycogen storage disease V
• p.Trp798Arg Multiple submitters glycogen storage disease V
• p.Tyr84fs Multiple submitters glycogen storage disease V
• p.Tyr84Ter Multiple submitters glycogen storage disease V
• p.Val456Met Multiple submitters glycogen storage disease V
• p.Val503fs Multiple submitters glycogen storage disease V
• p.Val716fs Multiple submitters glycogen storage disease V
• p.Val788fs Multiple submitters glycogen storage disease V
• p.Tyr574Ter No assertion criteria glycogen storage disease V

Likely pathogenic 121

• c.1092+1G>A Multiple submitters glycogen storage disease V
• c.1092+1G>C Multiple submitters glycogen storage disease V
• c.1240-2A>G Multiple submitters PYGM-related disorder
• c.1827+1G>C Multiple submitters glycogen storage disease V
• c.1969+1G>A Multiple submitters glycogen storage disease V
• c.1969+1G>C Multiple submitters glycogen storage disease V
• c.1970-1G>C Multiple submitters glycogen storage disease V
• c.2177_2177+3del Multiple submitters glycogen storage disease V
• c.2177+1G>A Multiple submitters glycogen storage disease V
• c.2177+1G>T Multiple submitters PYGM-related disorder
• c.2313-1G>A Multiple submitters glycogen storage disease V
• c.424+1G>T Multiple submitters glycogen storage disease V
• c.528+2T>G Multiple submitters glycogen storage disease V
• c.660+1G>A Multiple submitters glycogen storage disease V
• c.772+2T>A Multiple submitters PYGM-related disorder
• p.Asp284fs Multiple submitters glycogen storage disease V
• p.Asp511fs Multiple submitters glycogen storage disease V
• p.Asp51Gly Multiple submitters glycogen storage disease V
• p.Asp694Glu Multiple submitters glycogen storage disease V
• p.Gln73Ter Multiple submitters glycogen storage disease V
• p.Leu137fs Multiple submitters PYGM-related disorder
• p.Phe546fs Multiple submitters glycogen storage disease V
• p.Ser450fs Multiple submitters PYGM-related disorder
• p.Tyr85fs Multiple submitters glycogen storage disease V
• c.1093-1G>A Single submitter glycogen storage disease V
• c.1093-1G>C Single submitter glycogen storage disease V
• c.1093-1G>T Single submitter glycogen storage disease V
• c.1093-2A>T Single submitter glycogen storage disease V
• c.1239+1G>T Single submitter glycogen storage disease V
• c.1403+1dup Single submitter glycogen storage disease V
• c.1404-1G>C Single submitter glycogen storage disease V
• c.1518+1G>A Single submitter glycogen storage disease V
• c.1519-1G>A Single submitter glycogen storage disease V
• c.1519-2A>G Single submitter glycogen storage disease V
• c.1519-3T>G Single submitter glycogen storage disease V
• c.1620+1G>T Single submitter glycogen storage disease V
• c.1769-1G>A Single submitter glycogen storage disease V
• c.1828-1G>A Single submitter glycogen storage disease V
• c.1828-1G>T Single submitter glycogen storage disease V
• c.1828-2A>G Single submitter glycogen storage disease V
• c.1970-2A>C Single submitter glycogen storage disease V
• c.2313-2A>G Single submitter glycogen storage disease V
• c.2379+1G>A Single submitter glycogen storage disease V
• c.2380-1G>T Single submitter
• c.2380-2A>G Single submitter glycogen storage disease V
• c.243+1G>T Single submitter glycogen storage disease V
• c.244-1G>A Single submitter glycogen storage disease V
• c.424+1G>A Single submitter glycogen storage disease V
• c.528+1G>A Single submitter glycogen storage disease V
• c.528+1G>T Single submitter glycogen storage disease V
• c.661-2A>C Single submitter glycogen storage disease V
• c.772+1G>C Single submitter glycogen storage disease V
• c.773-1G>C Single submitter glycogen storage disease V
• c.855+1G>A Single submitter glycogen storage disease V
• c.855+2T>C Single submitter glycogen storage disease V
• c.856-2A>C Single submitter glycogen storage disease V
• c.999+1G>A Single submitter glycogen storage disease V
• p.Ala365Glu Single submitter glycogen storage disease V
• p.Ala384Val Single submitter glycogen storage disease V
• p.Ala660Asp Single submitter glycogen storage disease V
• p.Arg139Gly Single submitter glycogen storage disease V
• p.Arg161His Single submitter glycogen storage disease V
• p.Arg17fs Single submitter glycogen storage disease V
• p.Arg490Pro Single submitter glycogen storage disease V
• p.Arg67fs Single submitter glycogen storage disease V
• p.Asn33fs Single submitter glycogen storage disease V
• p.Asn45fs Single submitter glycogen storage disease V
• p.Asp228fs Single submitter glycogen storage disease V
• p.Asp422fs Single submitter glycogen storage disease V
• p.Cys496_Asn497delinsTer Single submitter glycogen storage disease V
• p.Cys581fs Single submitter glycogen storage disease V
• p.Glu111Ter Single submitter Abnormality of metabolism/homeostasis
• p.Glu23fs Single submitter glycogen storage disease V
• p.Glu288Ter Single submitter glycogen storage disease V
• p.Glu297Ter Single submitter glycogen storage disease V
• p.Glu349fs Single submitter glycogen storage disease V
• p.Glu462fs Single submitter glycogen storage disease V
• p.Glu786fs Single submitter glycogen storage disease V
• p.Glu786Ter Single submitter glycogen storage disease V
• p.Gly133Ser Single submitter
• p.Gly136Asp Single submitter glycogen storage disease V
• p.Gly157Val Single submitter glycogen storage disease V
• p.Gly174Asp Single submitter glycogen storage disease V
• p.Gly205Cys Single submitter glycogen storage disease V
• p.Gly686Glu Single submitter glycogen storage disease V
• p.Gly695Trp Single submitter glycogen storage disease V
• p.Gly93Val Single submitter
• p.His451fs Single submitter glycogen storage disease V
• p.Ile276fs Single submitter glycogen storage disease V
• p.Ile336fs Single submitter glycogen storage disease V
• p.Leu280fs Single submitter glycogen storage disease V
• p.Leu36Pro Single submitter glycogen storage disease V
• p.Leu40fs Single submitter glycogen storage disease V
• p.Leu426fs Single submitter glycogen storage disease V
• p.Leu579del Single submitter glycogen storage disease V
• p.Lys483fs Single submitter glycogen storage disease V
• p.Lys575Glu Single submitter glycogen storage disease V
• p.Lys681fs Single submitter glycogen storage disease V
• p.Met1_Pro4del Single submitter glycogen storage disease V
• p.Met1fs Single submitter glycogen storage disease V
• p.Met1Thr Single submitter glycogen storage disease V
• p.Phe709fs Single submitter glycogen storage disease V
• p.Ser809fs Single submitter glycogen storage disease V
• p.Trp798Gly Single submitter glycogen storage disease V
• p.Trp798Ter Single submitter glycogen storage disease V
• p.Tyr158fs Single submitter glycogen storage disease V
• p.Tyr281Ter Single submitter PYGM-related disorder
• p.Tyr53del Single submitter glycogen storage disease V
• p.Tyr727Ter Single submitter glycogen storage disease V
• p.Val16fs Single submitter glycogen storage disease V
• p.Val231fs Single submitter glycogen storage disease V
• p.Val651Leu Single submitter glycogen storage disease V
• c.1969+1G>T No assertion criteria glycogen storage disease V
• p.Ala149fs No assertion criteria glycogen storage disease V
• p.Asn561fs No assertion criteria glycogen storage disease V
• p.Glu744fs No assertion criteria glycogen storage disease V
• p.Gly713fs No assertion criteria glycogen storage disease V
• p.His37Arg No assertion criteria glycogen storage disease V
• p.His74fs No assertion criteria glycogen storage disease V
• p.Leu88fs No assertion criteria glycogen storage disease V
• p.Ter843Leu No assertion criteria glycogen storage disease V

Conflicting classifications of pathogenicity 94

• c.1092+15C>T Single submitter glycogen storage disease V
• c.1092+6dup Single submitter glycogen storage disease V
• c.1239+12G>A Single submitter glycogen storage disease V
• c.1239+8C>T Single submitter glycogen storage disease V
• c.1403+2dup Single submitter glycogen storage disease V
• c.1403+5G>A Single submitter glycogen storage disease V
• c.1620+1G>A Single submitter glycogen storage disease V
• c.1769-7T>C Single submitter glycogen storage disease V
• c.2177+7G>A Single submitter glycogen storage disease V
• c.346-20T>G Single submitter glycogen storage disease V
• c.346-5T>G Single submitter glycogen storage disease V
• c.346-9C>T Single submitter glycogen storage disease V
• c.660+17G>A Single submitter glycogen storage disease V
• c.661-9C>T Single submitter glycogen storage disease V
• c.855+4C>T Single submitter glycogen storage disease V
• c.999+20C>T Single submitter glycogen storage disease V
• c.-20C>T Single submitter Tip-toe gait
• p.Ala180= Single submitter glycogen storage disease V
• p.Ala365Val Single submitter PYGM-related disorder ⚠
• p.Ala452Thr Single submitter Tip-toe gait ⚠
• p.Ala674Val Single submitter glycogen storage disease V ⚠
• p.Arg161Cys Single submitter glycogen storage disease V ⚠
• p.Arg194Trp Single submitter glycogen storage disease V ⚠
• p.Arg293Trp Single submitter Inborn genetic diseases ⚠
• p.Arg34= Single submitter glycogen storage disease V
• p.Arg387His Single submitter glycogen storage disease V ⚠
• p.Arg439Cys Single submitter Tip-toe gait ⚠
• p.Arg490Trp Single submitter glycogen storage disease V ⚠
• p.Arg570Trp Single submitter disorder of glycogen metabolism ⚠
• p.Arg590His Single submitter glycogen storage disease V ⚠
• p.Arg602Gln Single submitter glycogen storage disease V ⚠
• p.Arg602Trp Single submitter Skeletal muscle channelopathy ⚠
• p.Arg61= Single submitter glycogen storage disease V
• p.Arg61His Single submitter glycogen storage disease V ⚠
• p.Arg642Cys Single submitter Inborn genetic diseases ⚠
• p.Arg642His Single submitter Inborn genetic diseases ⚠
• p.Arg715Trp Single submitter glycogen storage disease V ⚠
• p.Arg816Cys Single submitter Inborn genetic diseases ⚠
• p.Asn283Ser Single submitter glycogen storage disease V ⚠
• p.Asn377Tyr Single submitter glycogen storage disease V ⚠
• p.Asn413Tyr Single submitter glycogen storage disease V ⚠
• p.Asn596Ser Single submitter glycogen storage disease V ⚠
• p.Asn728Asp Single submitter glycogen storage disease V ⚠
• p.Asn764Asp Single submitter glycogen storage disease V ⚠
• p.Asp110= Single submitter glycogen storage disease V
• p.Asp361= Single submitter glycogen storage disease V
• p.Asp422= Single submitter glycogen storage disease V
• p.Asp515= Single submitter glycogen storage disease V
• p.Asp694= Single submitter glycogen storage disease V
• p.Gln176Pro Single submitter glycogen storage disease V ⚠
• p.Gln220= Single submitter glycogen storage disease V
• p.Gln337= Single submitter glycogen storage disease V
• p.Gln337Arg Single submitter glycogen storage disease V ⚠
• p.Gln666Glu Single submitter glycogen storage disease V ⚠
• p.Glu179= Single submitter glycogen storage disease V
• p.Gly135Arg Single submitter glycogen storage disease V ⚠
• p.Gly173Arg Single submitter glycogen storage disease V ⚠
• p.Gly205Asp Single submitter glycogen storage disease V ⚠
• p.Gly205Ser Single submitter Skeletal muscle channelopathy ⚠
• p.Gly449Arg Single submitter PYGM-related disorder ⚠
• p.Gly455Ser Single submitter glycogen storage disease V ⚠
• p.Gly486Ser Single submitter ⚠
• p.Gly810= Single submitter glycogen storage disease V
• p.Ile308= Single submitter glycogen storage disease V
• p.Ile513Val Single submitter PYGM-related disorder ⚠
• p.Ile627= Single submitter glycogen storage disease V
• p.Ile762Met Single submitter glycogen storage disease V ⚠
• p.Ile83Phe Single submitter glycogen storage disease V ⚠
• p.Leu292Pro Single submitter glycogen storage disease V ⚠
• p.Leu36Arg Single submitter glycogen storage disease V ⚠
• p.Leu381= Single submitter glycogen storage disease V
• p.Leu393= Single submitter glycogen storage disease V
• p.Leu516= Single submitter glycogen storage disease V
• p.Leu653Val Single submitter glycogen storage disease V ⚠
• p.Leu739Pro Single submitter Inborn genetic diseases ⚠
• p.Leu86= Single submitter glycogen storage disease V
• p.Lys215= Single submitter Inborn genetic diseases
• p.Lys543Asn Single submitter glycogen storage disease V ⚠
• p.Phe564= Single submitter glycogen storage disease V
• p.Pro398Leu Single submitter glycogen storage disease V ⚠
• p.Pro489Ser Single submitter glycogen storage disease V ⚠
• p.Pro635= Single submitter glycogen storage disease V
• p.Pro756= Single submitter glycogen storage disease V
• p.Ser450Leu Single submitter glycogen storage disease V ⚠
• p.Ser675Leu Single submitter glycogen storage disease V ⚠
• p.Thr379Met Single submitter glycogen storage disease V ⚠
• p.Tyr204= Single submitter glycogen storage disease V
• p.Tyr733= Single submitter glycogen storage disease V
• p.Val370= Single submitter glycogen storage disease V
• p.Val423Ile Single submitter glycogen storage disease V ⚠
• p.Val538= Single submitter glycogen storage disease V
• p.Val624Ile Single submitter glycogen storage disease V ⚠
• p.Val630Met Single submitter glycogen storage disease V ⚠
• c.661-599G>T No assertion criteria PYGM-related disorder

Benign 33

• c.1403+49C>A Multiple submitters glycogen storage disease V
• c.1768+51C>T Multiple submitters glycogen storage disease V
• c.1827+7A>G Multiple submitters glycogen storage disease V
• c.1969+272T>C Multiple submitters
• c.2313-47T>C Multiple submitters glycogen storage disease V
• c.243+48A>G Multiple submitters glycogen storage disease V
• c.425-22C>T Multiple submitters
• c.528+74C>A Multiple submitters glycogen storage disease V
• c.529-82G>A Multiple submitters glycogen storage disease V
• c.660+35G>A Multiple submitters glycogen storage disease V
• c.999+99T>C Multiple submitters glycogen storage disease V
• c.-381T>C Multiple submitters
• c.-76A>G Multiple submitters glycogen storage disease V
• p.Arg414Gly Multiple submitters glycogen storage disease V ⚠
• p.Pro498= Multiple submitters glycogen storage disease V
• p.Thr395Met Multiple submitters glycogen storage disease V
• c.1000-15del Single submitter glycogen storage disease V
• c.1093-10del Single submitter glycogen storage disease V
• c.1093-13dup Single submitter glycogen storage disease V
• c.1518+171A>T Single submitter
• c.1519-279G>C Single submitter
• c.1969+266_1969+267insAC Single submitter
• c.1969+277G>A Single submitter
• c.1969+280A>G Single submitter
• c.1969+286G>C Single submitter
• c.1969+293A>G Single submitter
• c.1970-17dup Single submitter glycogen storage disease V
• c.1970-3C>T Single submitter Tip-toe gait
• c.661-464G>T Single submitter
• c.661-5del Single submitter glycogen storage disease V
• c.855+13del Single submitter glycogen storage disease V
• p.Leu397= Single submitter glycogen storage disease V
• p.Leu5Pro Single submitter Tip-toe gait ⚠

Benign/Likely benign 13

• c.1240-16G>A Multiple submitters glycogen storage disease V
• c.1519-12G>A Multiple submitters glycogen storage disease V
• c.1621-19del Multiple submitters glycogen storage disease V
• c.1970-6C>T Multiple submitters Tip-toe gait
• c.424+17G>A Multiple submitters glycogen storage disease V
• c.661-5C>G Multiple submitters glycogen storage disease V
• p.Ala193Ser Multiple submitters glycogen storage disease V ⚠
• p.Ala670Val Multiple submitters glycogen storage disease V
• p.Asn794= Multiple submitters glycogen storage disease V
• p.Glu703= Multiple submitters glycogen storage disease V
• p.Gly509= Multiple submitters glycogen storage disease V
• p.His202= Multiple submitters glycogen storage disease V
• p.Tyr405= Multiple submitters glycogen storage disease V

Likely benign 621

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

• c.1093-10C>T Multiple submitters glycogen storage disease V
• c.1239+18G>C Multiple submitters glycogen storage disease V
• c.1239+72G>A Multiple submitters
• c.1404-19G>A Multiple submitters glycogen storage disease V
• c.1518+7G>C Multiple submitters glycogen storage disease V
• c.1519-10C>T Multiple submitters glycogen storage disease V
• c.1621-8G>A Multiple submitters glycogen storage disease V
• c.2177+20C>T Multiple submitters glycogen storage disease V
• c.2312+13_2312+50del Multiple submitters glycogen storage disease V
• c.2312+16C>T Multiple submitters glycogen storage disease V
• c.2312+19G>A Multiple submitters glycogen storage disease V
• c.345+11G>A Multiple submitters glycogen storage disease V
• c.345+17G>A Multiple submitters glycogen storage disease V
• c.424+16C>T Multiple submitters glycogen storage disease V
• c.424+9_424+12del Multiple submitters glycogen storage disease V
• c.660+13_660+15del Multiple submitters glycogen storage disease V
• c.661-4G>A Multiple submitters glycogen storage disease V
• c.661-606A>C Multiple submitters
• c.773-18C>T Multiple submitters glycogen storage disease V
• c.999+10G>A Multiple submitters glycogen storage disease V
• p.Ala130= Multiple submitters glycogen storage disease V
• p.Ala20= Multiple submitters glycogen storage disease V
• p.Ala452= Multiple submitters glycogen storage disease V
• p.Ala704= Multiple submitters glycogen storage disease V
• p.Asn134= Multiple submitters glycogen storage disease V
• p.Asn283= Multiple submitters glycogen storage disease V
• p.Gly152= Multiple submitters glycogen storage disease V
• p.Gly66= Multiple submitters glycogen storage disease V
• p.His451= Multiple submitters glycogen storage disease V
• p.Ile447Leu Multiple submitters glycogen storage disease V ⚠
• p.Ile508= Multiple submitters glycogen storage disease V
• p.Leu153= Multiple submitters glycogen storage disease V
• p.Leu19= Multiple submitters glycogen storage disease V
• p.Leu5= Multiple submitters glycogen storage disease V
• p.Leu64= Multiple submitters glycogen storage disease V
• p.Phe287= Multiple submitters glycogen storage disease V
• p.Phe317= Multiple submitters glycogen storage disease V
• p.Phe327= Multiple submitters glycogen storage disease V
• p.Pro322= Multiple submitters glycogen storage disease V
• p.Ser172= Multiple submitters glycogen storage disease V
• p.Ser461= Multiple submitters glycogen storage disease V
• p.Thr198= Multiple submitters glycogen storage disease V
• p.Thr241= Multiple submitters glycogen storage disease V
• p.Thr325= Multiple submitters glycogen storage disease V
• p.Thr799= Multiple submitters glycogen storage disease V
• p.Thr95= Multiple submitters glycogen storage disease V
• p.Tyr186= Multiple submitters glycogen storage disease V
• c.1000-10C>T Single submitter glycogen storage disease V
• c.1000-12C>T Single submitter glycogen storage disease V
• c.1000-13C>A Single submitter glycogen storage disease V
• c.1000-15C>T Single submitter glycogen storage disease V
• c.1000-17C>T Single submitter glycogen storage disease V
• c.1000-18C>T Single submitter glycogen storage disease V
• c.1000-20G>T Single submitter glycogen storage disease V
• c.1000-24_1000-14dup Single submitter glycogen storage disease V
• c.1000-6C>T Single submitter glycogen storage disease V
• c.1000-9C>G Single submitter glycogen storage disease V
• c.1092+7T>G Single submitter glycogen storage disease V
• c.1093-13C>A Single submitter glycogen storage disease V
• c.1093-16C>G Single submitter glycogen storage disease V
• c.1093-18G>T Single submitter glycogen storage disease V
• c.1093-20C>T Single submitter glycogen storage disease V
• c.1093-5G>A Single submitter glycogen storage disease V
• c.1093-6T>C Single submitter glycogen storage disease V
• c.1093-9G>A Single submitter glycogen storage disease V
• c.1093-9G>C Single submitter glycogen storage disease V
• c.1239+13G>C Single submitter glycogen storage disease V
• c.1239+17G>T Single submitter glycogen storage disease V
• c.1239+7C>T Single submitter glycogen storage disease V
• c.1239+8C>A Single submitter glycogen storage disease V
• c.1239+9G>A Single submitter glycogen storage disease V
• c.1240-13_1240-12delinsAA Single submitter glycogen storage disease V
• c.1240-19C>A Single submitter glycogen storage disease V
• c.1240-22_1240-20del Single submitter glycogen storage disease V
• c.1240-9T>C Single submitter glycogen storage disease V
• c.1403+12T>C Single submitter glycogen storage disease V
• c.1403+15C>G Single submitter glycogen storage disease V
• c.1403+7C>A Single submitter glycogen storage disease V
• c.1403+7C>T Single submitter glycogen storage disease V
• c.1403+8C>A Single submitter glycogen storage disease V
• c.1403+9C>T Single submitter glycogen storage disease V
• c.1404-16C>T Single submitter glycogen storage disease V
• c.1404-4G>A Single submitter glycogen storage disease V
• c.1404-4G>T Single submitter glycogen storage disease V
• c.1404-9A>C Single submitter glycogen storage disease V
• c.1518+10C>T Single submitter glycogen storage disease V
• c.1518+12C>T Single submitter glycogen storage disease V
• c.1518+13C>T Single submitter glycogen storage disease V
• c.1518+14G>A Single submitter glycogen storage disease V
• c.1518+15T>C Single submitter glycogen storage disease V
• c.1518+18G>A Single submitter glycogen storage disease V
• c.1518+20C>T Single submitter glycogen storage disease V
• c.1518+9C>G Single submitter glycogen storage disease V
• c.1519-11T>C Single submitter glycogen storage disease V
• c.1519-13C>G Single submitter glycogen storage disease V
• c.1519-13C>T Single submitter glycogen storage disease V
• c.1519-14C>A Single submitter glycogen storage disease V
• c.1519-4A>G Single submitter glycogen storage disease V
• c.1519-5C>T Single submitter glycogen storage disease V
• c.1519-5del Single submitter glycogen storage disease V
• c.1519-7C>T Single submitter glycogen storage disease V
• c.1620+13G>A Single submitter glycogen storage disease V
• c.1620+15A>C Single submitter glycogen storage disease V
• c.1620+16A>G Single submitter glycogen storage disease V
• c.1620+17T>C Single submitter glycogen storage disease V
• c.1620+7A>G Single submitter glycogen storage disease V
• c.1621-13T>A Single submitter glycogen storage disease V
• c.1621-14G>A Single submitter glycogen storage disease V
• c.1621-15C>T Single submitter glycogen storage disease V
• c.1621-16C>G Single submitter glycogen storage disease V
• c.1621-17C>T Single submitter glycogen storage disease V
• c.1621-18C>G Single submitter glycogen storage disease V
• c.1621-20T>C Single submitter glycogen storage disease V
• c.1768+13C>G Single submitter glycogen storage disease V
• c.1768+17C>G Single submitter glycogen storage disease V
• c.1768+19A>G Single submitter glycogen storage disease V
• c.1768+8_1768+11dup Single submitter glycogen storage disease V
• c.1768+9C>T Single submitter glycogen storage disease V
• c.1769-10T>G Single submitter glycogen storage disease V
• c.1769-12G>A Single submitter glycogen storage disease V
• c.1769-12G>C Single submitter glycogen storage disease V
• c.1769-13C>T Single submitter glycogen storage disease V
• c.1769-16T>C Single submitter glycogen storage disease V
• c.1769-19C>A Single submitter glycogen storage disease V
• c.1769-3C>T Single submitter
• c.1769-4A>C Single submitter glycogen storage disease V
• c.1769-6C>T Single submitter glycogen storage disease V
• c.1769-8C>T Single submitter glycogen storage disease V
• c.1769-9T>A Single submitter glycogen storage disease V
• c.1827+10C>T Single submitter glycogen storage disease V
• c.1827+13G>C Single submitter glycogen storage disease V
• c.1827+16C>T Single submitter glycogen storage disease V
• c.1827+17C>T Single submitter glycogen storage disease V
• c.1827+18A>C Single submitter glycogen storage disease V
• c.1827+20C>T Single submitter glycogen storage disease V
• c.1827+9C>A Single submitter glycogen storage disease V
• c.1827+9C>T Single submitter glycogen storage disease V
• c.1828-11_1828-9del Single submitter glycogen storage disease V
• c.1828-11T>C Single submitter glycogen storage disease V
• c.1828-16G>C Single submitter glycogen storage disease V
• c.1828-19C>T Single submitter glycogen storage disease V
• c.1828-5C>A Single submitter glycogen storage disease V
• c.1828-5C>T Single submitter glycogen storage disease V
• c.1828-7C>A Single submitter glycogen storage disease V
• c.1828-8C>T Single submitter glycogen storage disease V
• c.1969+16_1969+17del Single submitter glycogen storage disease V
• c.1969+19G>C Single submitter glycogen storage disease V
• c.1969+20A>G Single submitter glycogen storage disease V
• c.1969+7G>T Single submitter glycogen storage disease V
• c.1969+9T>C Single submitter glycogen storage disease V
• c.1970-19C>T Single submitter glycogen storage disease V
• c.1970-20_1970-5dup Single submitter glycogen storage disease V
• c.1970-20C>T Single submitter glycogen storage disease V
• c.1970-290C>T Single submitter
• c.1970-4A>C Single submitter glycogen storage disease V
• c.1970-5C>G Single submitter glycogen storage disease V
• c.1970-5C>T Single submitter glycogen storage disease V
• c.2177+11C>G Single submitter glycogen storage disease V
• c.2177+15G>A Single submitter glycogen storage disease V
• c.2177+6G>C Single submitter
• c.2177+8G>A Single submitter glycogen storage disease V
• c.2177+9G>A Single submitter glycogen storage disease V
• c.2178-12dup Single submitter glycogen storage disease V
• c.2178-14C>T Single submitter glycogen storage disease V
• c.2178-16A>T Single submitter glycogen storage disease V
• c.2178-4del Single submitter glycogen storage disease V
• c.2178-8C>T Single submitter glycogen storage disease V
• c.2312+10T>G Single submitter glycogen storage disease V
• c.2312+15C>T Single submitter glycogen storage disease V
• c.2312+16del Single submitter glycogen storage disease V
• c.2312+17G>A Single submitter glycogen storage disease V
• c.2312+19del Single submitter glycogen storage disease V
• c.2312+7del Single submitter
• c.2312+8G>C Single submitter glycogen storage disease V
• c.2312+9G>C Single submitter glycogen storage disease V
• c.2313-13C>T Single submitter glycogen storage disease V
• c.2313-16A>C Single submitter glycogen storage disease V
• c.2313-4C>T Single submitter glycogen storage disease V
• c.2313-7C>T Single submitter glycogen storage disease V
• c.2313-8C>T Single submitter glycogen storage disease V
• c.2379+10C>A Single submitter glycogen storage disease V
• c.2379+11C>A Single submitter glycogen storage disease V
• c.2379+11C>T Single submitter glycogen storage disease V
• c.2379+43C>T Single submitter
• c.2379+7G>A Single submitter glycogen storage disease V
• c.2379+8G>A Single submitter glycogen storage disease V
• c.2380-11T>G Single submitter glycogen storage disease V
• c.2380-14C>T Single submitter glycogen storage disease V
• c.2380-15C>G Single submitter glycogen storage disease V
• c.2380-16T>C Single submitter glycogen storage disease V
• c.2380-6C>G Single submitter glycogen storage disease V
• c.2380-6C>T Single submitter glycogen storage disease V
• c.2380-7C>T Single submitter glycogen storage disease V
• c.2380-8A>G Single submitter glycogen storage disease V
• c.243+13A>C Single submitter glycogen storage disease V
• c.243+14G>A Single submitter glycogen storage disease V
• c.243+14G>T Single submitter glycogen storage disease V
• c.243+167G>A Single submitter
• c.243+16C>T Single submitter glycogen storage disease V
• c.243+18G>C Single submitter glycogen storage disease V
• c.243+8T>C Single submitter glycogen storage disease V
• c.244-14G>A Single submitter glycogen storage disease V
• c.244-15C>T Single submitter glycogen storage disease V
• c.244-18A>G Single submitter glycogen storage disease V
• c.244-20C>G Single submitter glycogen storage disease V
• c.244-310_244-309insGGGCCTTGGCCTTGCCCTCCTGGGGAGCTCTTGGAGGCGCTTCCACATGTCCTGGCATCCTGCTGGGCTGTGCGG Single submitter glycogen storage disease V
• c.244-4G>A Single submitter glycogen storage disease V
• c.244-5G>C Single submitter glycogen storage disease V
• c.244-5G>T Single submitter
• c.244-7T>C Single submitter glycogen storage disease V
• c.244-9T>C Single submitter glycogen storage disease V
• c.345+12G>A Single submitter glycogen storage disease V
• c.345+12G>T Single submitter glycogen storage disease V
• c.345+14G>A Single submitter glycogen storage disease V
• c.345+17G>C Single submitter glycogen storage disease V
• c.345+18C>A Single submitter
• c.345+18C>T Single submitter glycogen storage disease V
• c.345+20A>T Single submitter glycogen storage disease V
• c.345+2TG[3] Single submitter glycogen storage disease V
• c.345+37G>T Single submitter
• c.345+7G>A Single submitter glycogen storage disease V
• c.345+8T>G Single submitter glycogen storage disease V
• c.345+9G>A Single submitter glycogen storage disease V
• c.346-11C>T Single submitter glycogen storage disease V
• c.346-12T>C Single submitter glycogen storage disease V
• c.346-13C>T Single submitter glycogen storage disease V
• c.346-16A>G Single submitter glycogen storage disease V
• c.346-19G>A Single submitter glycogen storage disease V
• c.346-20T>A Single submitter glycogen storage disease V
• c.346-4C>T Single submitter glycogen storage disease V
• c.346-5T>C Single submitter glycogen storage disease V
• c.424+12G>C Single submitter glycogen storage disease V
• c.424+14G>A Single submitter glycogen storage disease V
• c.424+6A>G Single submitter
• c.424+7A>C Single submitter glycogen storage disease V
• c.424+8G>A Single submitter glycogen storage disease V
• c.424+8G>C Single submitter glycogen storage disease V
• c.425-10A>G Single submitter glycogen storage disease V
• c.425-18C>A Single submitter glycogen storage disease V
• c.425-18C>T Single submitter glycogen storage disease V
• c.425-4C>T Single submitter glycogen storage disease V
• c.425-5C>A Single submitter glycogen storage disease V
• c.425-5C>T Single submitter glycogen storage disease V
• c.425-6C>T Single submitter glycogen storage disease V
• c.528+12T>C Single submitter glycogen storage disease V
• c.528+13G>A Single submitter glycogen storage disease V
• c.528+4AGC[3] Single submitter glycogen storage disease V
• c.528+9C>A Single submitter glycogen storage disease V
• c.528+9C>G Single submitter glycogen storage disease V
• c.528+9C>T Single submitter glycogen storage disease V
• c.529-12C>T Single submitter glycogen storage disease V
• c.529-13_529-10del Single submitter glycogen storage disease V
• c.529-15C>G Single submitter glycogen storage disease V
• c.529-18G>C Single submitter glycogen storage disease V
• c.529-63_529-57del Single submitter
• c.660+10A>G Single submitter glycogen storage disease V
• c.660+134_660+135del Single submitter
• c.660+13C>T Single submitter glycogen storage disease V
• c.660+18G>C Single submitter glycogen storage disease V
• c.660+18G>T Single submitter glycogen storage disease V
• c.660+9G>A Single submitter glycogen storage disease V
• c.661-10C>G Single submitter glycogen storage disease V
• c.661-10C>T Single submitter glycogen storage disease V
• c.661-18C>G Single submitter glycogen storage disease V
• c.661-4G>C Single submitter glycogen storage disease V
• c.661-551T>C Single submitter
• c.661-5C>T Single submitter glycogen storage disease V
• c.661-6_661-5dup Single submitter glycogen storage disease V
• c.661-7C>A Single submitter glycogen storage disease V
• c.772+10T>C Single submitter glycogen storage disease V
• c.772+11C>T Single submitter glycogen storage disease V
• c.772+14C>T Single submitter glycogen storage disease V
• c.772+16G>A Single submitter glycogen storage disease V
• c.772+18T>G Single submitter glycogen storage disease V
• c.772+8C>G Single submitter glycogen storage disease V
• c.772+9A>G Single submitter glycogen storage disease V
• c.773-14C>T Single submitter glycogen storage disease V
• c.773-5C>G Single submitter glycogen storage disease V
• c.773-5C>T Single submitter glycogen storage disease V
• c.773-6C>G Single submitter glycogen storage disease V
• c.773-6C>T Single submitter glycogen storage disease V
• c.773-7C>T Single submitter glycogen storage disease V
• c.773-9G>A Single submitter glycogen storage disease V
• c.855+10C>A Single submitter glycogen storage disease V
• c.855+11C>T Single submitter glycogen storage disease V
• c.855+14T>G Single submitter glycogen storage disease V
• c.855+15G>A Single submitter glycogen storage disease V
• c.855+19T>G Single submitter glycogen storage disease V
• c.855+20G>A Single submitter glycogen storage disease V
• c.855+7C>A Single submitter glycogen storage disease V
• c.855+7C>T Single submitter glycogen storage disease V
• c.855+8A>G Single submitter glycogen storage disease V
• c.855+9C>A Single submitter glycogen storage disease V
• c.855+9C>T Single submitter glycogen storage disease V
• c.856-11G>C Single submitter
• c.856-12T>C Single submitter glycogen storage disease V
• c.856-17C>A Single submitter glycogen storage disease V
• c.856-6C>A Single submitter glycogen storage disease V
• c.856-8G>A Single submitter glycogen storage disease V
• c.856-8G>C Single submitter glycogen storage disease V

Uncertain significance 470

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

• c.855+5G>A Multiple submitters glycogen storage disease V
• p.Ala130Val Multiple submitters glycogen storage disease V ⚠
• p.Ala193Val Multiple submitters glycogen storage disease V ⚠
• p.Ala273Val Multiple submitters glycogen storage disease V ⚠
• p.Ala436Thr Multiple submitters glycogen storage disease V ⚠
• p.Ala443Val Multiple submitters glycogen storage disease V ⚠
• p.Ala448Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ala448Val Multiple submitters glycogen storage disease V ⚠
• p.Ala776Thr Multiple submitters glycogen storage disease V ⚠
• p.Arg17His Multiple submitters Inborn genetic diseases ⚠
• p.Arg185Cys Multiple submitters glycogen storage disease V ⚠
• p.Arg235Cys Multiple submitters glycogen storage disease V ⚠
• p.Arg235His Multiple submitters glycogen storage disease V ⚠
• p.Arg243Cys Multiple submitters glycogen storage disease V ⚠
• p.Arg243His Multiple submitters glycogen storage disease V ⚠
• p.Arg278Cys Multiple submitters glycogen storage disease V ⚠
• p.Arg278His Multiple submitters glycogen storage disease V ⚠
• p.Arg310Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg310His Multiple submitters Inborn genetic diseases ⚠
• p.Arg320His Multiple submitters glycogen storage disease V ⚠
• p.Arg34Trp Multiple submitters glycogen storage disease V ⚠
• p.Arg352Lys Multiple submitters glycogen storage disease V ⚠
• p.Arg359Gln Multiple submitters glycogen storage disease V ⚠
• p.Arg359Trp Multiple submitters glycogen storage disease V ⚠
• p.Arg399Gln Multiple submitters glycogen storage disease V ⚠
• p.Arg3Gln Multiple submitters glycogen storage disease V ⚠
• p.Arg3Gly Multiple submitters glycogen storage disease V ⚠
• p.Arg3Trp Multiple submitters glycogen storage disease V ⚠
• p.Arg410Cys Multiple submitters glycogen storage disease V ⚠
• p.Arg414Gln Multiple submitters glycogen storage disease V ⚠
• p.Arg414Trp Multiple submitters glycogen storage disease V ⚠
• p.Arg425Gln Multiple submitters glycogen storage disease V ⚠
• p.Arg427Gln Multiple submitters glycogen storage disease V ⚠
• p.Arg428Cys Multiple submitters glycogen storage disease V ⚠
• p.Arg428His Multiple submitters Inborn genetic diseases ⚠
• p.Arg44His Multiple submitters glycogen storage disease V ⚠
• p.Arg507His Multiple submitters glycogen storage disease V ⚠
• p.Arg50Gln Multiple submitters Inborn genetic diseases
• p.Arg520Cys Multiple submitters glycogen storage disease V ⚠
• p.Arg533Gln Multiple submitters glycogen storage disease V ⚠
• p.Arg576Gln Multiple submitters glycogen storage disease V ⚠
• p.Arg61Cys Multiple submitters glycogen storage disease V ⚠
• p.Arg640Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg640His Multiple submitters glycogen storage disease V ⚠
• p.Arg67Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg70Cys Multiple submitters glycogen storage disease V ⚠
• p.Arg735Cys Multiple submitters glycogen storage disease V ⚠
• p.Arg735His Multiple submitters glycogen storage disease V ⚠
• p.Arg771Gly Multiple submitters glycogen storage disease V ⚠
• p.Arg771Trp Multiple submitters glycogen storage disease V ⚠
• p.Arg800Trp Multiple submitters glycogen storage disease V ⚠
• p.Arg804Gln Multiple submitters glycogen storage disease V ⚠
• p.Arg816His Multiple submitters glycogen storage disease V ⚠
• p.Arg823Trp Multiple submitters glycogen storage disease V ⚠
• p.Arg832Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg834Cys Multiple submitters glycogen storage disease V ⚠
• p.Arg834Gly Multiple submitters glycogen storage disease V ⚠
• p.Asn168His Multiple submitters glycogen storage disease V ⚠
• p.Asn237Ser Multiple submitters Inborn genetic diseases ⚠
• p.Asn251Ser Multiple submitters glycogen storage disease V ⚠
• p.Asn254Ile Multiple submitters glycogen storage disease V ⚠
• p.Asn259Ser Multiple submitters glycogen storage disease V ⚠
• p.Asn33Ser Multiple submitters glycogen storage disease V ⚠
• p.Asn45Ser Multiple submitters glycogen storage disease V
• p.Asn589Ser Multiple submitters glycogen storage disease V ⚠
• p.Asn685Ser Multiple submitters Inborn genetic diseases ⚠
• p.Asp181Asn Multiple submitters glycogen storage disease V ⚠
• p.Asp328His Multiple submitters Inborn genetic diseases ⚠
• p.Asp356Glu Multiple submitters glycogen storage disease V ⚠
• p.Asp422Asn Multiple submitters glycogen storage disease V ⚠
• p.Asp424Glu Multiple submitters Inborn genetic diseases ⚠
• p.Asp527Gly Multiple submitters glycogen storage disease V ⚠
• p.Asp534Tyr Multiple submitters glycogen storage disease V ⚠
• p.Asp629Tyr Multiple submitters glycogen storage disease V ⚠
• p.Asp757Asn Multiple submitters Inborn genetic diseases ⚠
• p.Asp757Glu Multiple submitters Inborn genetic diseases ⚠
• p.Asp839Asn Multiple submitters glycogen storage disease V ⚠
• p.Gln220Lys Multiple submitters glycogen storage disease V ⚠
• p.Glu106Gln Multiple submitters Inborn genetic diseases ⚠
• p.Glu406Lys Multiple submitters Inborn genetic diseases ⚠
• p.Glu462Lys Multiple submitters glycogen storage disease V
• p.Glu702Lys Multiple submitters glycogen storage disease V ⚠
• p.Glu703Lys Multiple submitters Inborn genetic diseases ⚠
• p.Glu706Lys Multiple submitters glycogen storage disease V ⚠
• p.Glu779Lys Multiple submitters glycogen storage disease V ⚠
• p.Glu797Gln Multiple submitters glycogen storage disease V ⚠
• p.Gly136Ser Multiple submitters glycogen storage disease V ⚠
• p.Gly136Val Multiple submitters glycogen storage disease V ⚠
• p.Gly157Asp Multiple submitters glycogen storage disease V ⚠
• p.Gly21Ser Multiple submitters glycogen storage disease V ⚠
• p.Gly628Arg Multiple submitters glycogen storage disease V ⚠
• p.Gly638Val Multiple submitters Inborn genetic diseases ⚠
• p.Gly678Ser Multiple submitters Inborn genetic diseases ⚠
• p.His206Gln Multiple submitters glycogen storage disease V ⚠
• p.His391Gln Multiple submitters Inborn genetic diseases ⚠
• p.His391Pro Multiple submitters Inborn genetic diseases ⚠
• p.His400Tyr Multiple submitters glycogen storage disease V ⚠
• p.His444Arg Multiple submitters Inborn genetic diseases ⚠
• p.His478Arg Multiple submitters glycogen storage disease V ⚠
• p.His583Arg Multiple submitters glycogen storage disease V ⚠
• p.His74Gln Multiple submitters Inborn genetic diseases ⚠
• p.Ile276Met Multiple submitters Inborn genetic diseases ⚠
• p.Ile353Asn Multiple submitters ⚠
• p.Ile508Met Multiple submitters glycogen storage disease V ⚠
• p.Ile606Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ile620Thr Multiple submitters glycogen storage disease V ⚠
• p.Ile782Thr Multiple submitters glycogen storage disease V ⚠
• p.Ile806Thr Multiple submitters glycogen storage disease V ⚠
• p.Leu153Arg Multiple submitters glycogen storage disease V ⚠
• p.Leu184Val Multiple submitters glycogen storage disease V ⚠
• p.Leu392Pro Multiple submitters Inborn genetic diseases ⚠
• p.Leu563Phe Multiple submitters glycogen storage disease V ⚠
• p.Leu722Arg Multiple submitters glycogen storage disease V ⚠
• p.Lys470Arg Multiple submitters glycogen storage disease V ⚠
• p.Lys479Arg Multiple submitters glycogen storage disease V ⚠
• p.Lys760Gln Multiple submitters glycogen storage disease V ⚠
• p.Met120Thr Multiple submitters glycogen storage disease V ⚠
• p.Met693Thr Multiple submitters Inborn genetic diseases ⚠
• p.Phe54Tyr Multiple submitters Inborn genetic diseases ⚠
• p.Phe54Val Multiple submitters glycogen storage disease V ⚠
• p.Pro343Ser Multiple submitters glycogen storage disease V ⚠
• p.Pro389Gln Multiple submitters glycogen storage disease V ⚠
• p.Pro498Ser Multiple submitters glycogen storage disease V ⚠
• p.Pro49Gln Multiple submitters glycogen storage disease V ⚠
• p.Pro612Ala Multiple submitters glycogen storage disease V ⚠
• p.Pro612Leu Multiple submitters glycogen storage disease V ⚠
• p.Pro635Leu Multiple submitters glycogen storage disease V ⚠
• p.Pro756Leu Multiple submitters glycogen storage disease V ⚠
• p.Pro838Ala Multiple submitters glycogen storage disease V ⚠
• p.Ser752Phe Multiple submitters Inborn genetic diseases ⚠
• p.Ser813Pro Multiple submitters glycogen storage disease V ⚠
• p.Thr113Ile Multiple submitters glycogen storage disease V ⚠
• p.Thr198Met Multiple submitters glycogen storage disease V ⚠
• p.Thr376Ala Multiple submitters glycogen storage disease V ⚠
• p.Thr488Ile Multiple submitters glycogen storage disease V ⚠
• p.Thr71Arg Multiple submitters glycogen storage disease V ⚠
• p.Thr799Met Multiple submitters glycogen storage disease V ⚠
• p.Trp245Cys Multiple submitters glycogen storage disease V ⚠
• p.Trp826Ser Multiple submitters glycogen storage disease V ⚠
• p.Tyr75Cys Multiple submitters glycogen storage disease V ⚠
• p.Tyr792Cys Multiple submitters Inborn genetic diseases ⚠
• p.Tyr85His Multiple submitters glycogen storage disease V ⚠
• p.Val22Met Multiple submitters glycogen storage disease V ⚠
• p.Val231Met Multiple submitters glycogen storage disease V ⚠
• p.Val267Leu Multiple submitters glycogen storage disease V ⚠
• p.Val300Met Multiple submitters glycogen storage disease V
• p.Val334Ala Multiple submitters glycogen storage disease V ⚠
• p.Val334Met Multiple submitters glycogen storage disease V ⚠
• p.Val41Ile Multiple submitters glycogen storage disease V ⚠
• p.Val453Ile Multiple submitters Inborn genetic diseases ⚠
• p.Val503Ile Multiple submitters Inborn genetic diseases ⚠
• p.Val568Met Multiple submitters glycogen storage disease V ⚠
• p.Val604Ala Multiple submitters Inborn genetic diseases ⚠
• p.Val604Leu Multiple submitters Inborn genetic diseases
• p.Val60Met Multiple submitters glycogen storage disease V ⚠
• p.Val65Met Multiple submitters glycogen storage disease V ⚠
• c.1000-16_1000-9del Single submitter glycogen storage disease V
• c.1093-3C>T Single submitter glycogen storage disease V
• c.1240-5C>G Single submitter
• c.1404-20C>T Single submitter glycogen storage disease V
• c.1518+171A>G Single submitter glycogen storage disease V
• c.1620+3G>T Single submitter glycogen storage disease V
• c.1620+5G>A Single submitter glycogen storage disease V
• c.1620+5G>T Single submitter glycogen storage disease V
• c.1621-11T>G Single submitter glycogen storage disease V
• c.2312+3G>C Single submitter glycogen storage disease V
• c.243+20G>T Single submitter glycogen storage disease V
• c.244-19C>T Single submitter
• c.345+17_345+18delinsAA Single submitter glycogen storage disease V
• c.424+4A>G Single submitter glycogen storage disease V
• c.424+5G>A Single submitter glycogen storage disease V
• c.529-4G>A Single submitter glycogen storage disease V
• c.529-7G>A Single submitter glycogen storage disease V
• c.855+3G>A Single submitter glycogen storage disease V
• c.855+3G>T Single submitter glycogen storage disease V
• c.999+6A>G Single submitter glycogen storage disease V
• c.-146C>A Single submitter
• c.-23G>A Single submitter glycogen storage disease V
• c.*80G>A Single submitter glycogen storage disease V
• p.Ala155Thr Single submitter glycogen storage disease V ⚠
• p.Ala247Thr Single submitter glycogen storage disease V ⚠
• p.Ala266Pro Single submitter ⚠
• p.Ala335Ser Single submitter Inborn genetic diseases ⚠
• p.Ala416Val Single submitter glycogen storage disease V ⚠
• p.Ala418Thr Single submitter glycogen storage disease V ⚠
• p.Ala452Ile Single submitter glycogen storage disease V
• p.Ala457Thr Single submitter glycogen storage disease V ⚠
• p.Ala457Val Single submitter glycogen storage disease V ⚠
• p.Ala505Ser Single submitter glycogen storage disease V ⚠
• p.Ala547Ser Single submitter glycogen storage disease V ⚠
• p.Ala611Val Single submitter glycogen storage disease V ⚠
• p.Ala670Glu Single submitter glycogen storage disease V ⚠
• p.Ala674Thr Single submitter glycogen storage disease V ⚠
• p.Ala696Thr Single submitter glycogen storage disease V ⚠
• p.Ala701Val Single submitter Acute rhabdomyolysis ⚠
• p.Ala790Thr Single submitter glycogen storage disease V ⚠
• p.Ala819Asp Single submitter Inborn genetic diseases ⚠
• p.Ala822Asp Single submitter glycogen storage disease V ⚠
• p.Ala822Val Single submitter glycogen storage disease V ⚠
• p.Arg185His Single submitter glycogen storage disease V ⚠
• p.Arg194Gln Single submitter ⚠
• p.Arg278Pro Single submitter glycogen storage disease V ⚠
• p.Arg293Gln Single submitter glycogen storage disease V ⚠
• p.Arg311Cys Single submitter ⚠
• p.Arg311His Single submitter glycogen storage disease V ⚠
• p.Arg324Gly Single submitter glycogen storage disease V ⚠
• p.Arg34Gln Single submitter glycogen storage disease V ⚠
• p.Arg371Ser Single submitter Inborn genetic diseases ⚠
• p.Arg387Cys Single submitter glycogen storage disease V ⚠
• p.Arg399Trp Single submitter glycogen storage disease V ⚠
• p.Arg425Trp Single submitter glycogen storage disease V ⚠
• p.Arg439His Single submitter Inborn genetic diseases ⚠
• p.Arg44Cys Single submitter glycogen storage disease V ⚠
• p.Arg458Cys Single submitter Inborn genetic diseases ⚠
• p.Arg458His Single submitter glycogen storage disease V ⚠
• p.Arg490Gly Single submitter glycogen storage disease V ⚠
• p.Arg507Cys Single submitter glycogen storage disease V ⚠
• p.Arg520His Single submitter Inborn genetic diseases ⚠
• p.Arg570Gly Single submitter ⚠
• p.Arg576Pro Single submitter glycogen storage disease V ⚠
• p.Arg590Cys Single submitter ⚠
• p.Arg650Gln Single submitter Inborn genetic diseases ⚠
• p.Arg70del Single submitter glycogen storage disease V
• p.Arg70His Single submitter ⚠
• p.Arg715Gln Single submitter ⚠
• p.Arg740Gln Single submitter glycogen storage disease V ⚠
• p.Arg771Leu Single submitter glycogen storage disease V ⚠
• p.Arg796Lys Single submitter Inborn genetic diseases ⚠
• p.Arg800Gln Single submitter glycogen storage disease V ⚠
• p.Arg804Pro Single submitter ⚠
• p.Arg823Gln Single submitter Inborn genetic diseases ⚠
• p.Arg834His Single submitter glycogen storage disease V ⚠
• p.Asn188Asp Single submitter ⚠
• p.Asn285Lys Single submitter glycogen storage disease V ⚠
• p.Asn326Ile Single submitter glycogen storage disease V ⚠
• p.Asn339Tyr Single submitter glycogen storage disease V ⚠
• p.Asn33Lys Single submitter Inborn genetic diseases ⚠
• p.Asn413Lys Single submitter glycogen storage disease V ⚠
• p.Asn413Ser Single submitter glycogen storage disease V ⚠
• p.Asn497Lys Single submitter ⚠
• p.Asn542Asp Single submitter ⚠
• p.Asn685His Single submitter glycogen storage disease V ⚠
• p.Asn685Tyr Single submitter ⚠
• p.Asn708Ile Single submitter glycogen storage disease V ⚠
• p.Asn764Ser Single submitter glycogen storage disease V ⚠
• p.Asp228Asn Single submitter glycogen storage disease V ⚠
• p.Asp228His Single submitter glycogen storage disease V ⚠
• p.Asp422Glu Single submitter
• p.Asp511Glu Single submitter glycogen storage disease V ⚠
• p.Asp62Asn Single submitter Inborn genetic diseases ⚠
• p.Asp639Tyr Single submitter glycogen storage disease V ⚠
• p.Asp761Asn Single submitter glycogen storage disease V ⚠
• p.Asp839Val Single submitter glycogen storage disease V ⚠
• p.Cys373Arg Single submitter ⚠
• p.Gln115His Single submitter glycogen storage disease V ⚠
• p.Gln169Glu Single submitter ⚠
• p.Gln176Arg Single submitter glycogen storage disease V ⚠
• p.Gln212Arg Single submitter Inborn genetic diseases ⚠
• p.Gln402Pro Single submitter glycogen storage disease V ⚠
• p.Gln481His Single submitter glycogen storage disease V ⚠
• p.Gln540His Single submitter glycogen storage disease V ⚠
• p.Gln567Glu Single submitter glycogen storage disease V ⚠
• p.Gln72Arg Single submitter Inborn genetic diseases ⚠
• p.Gln8Lys Single submitter glycogen storage disease V ⚠
• p.Glu111Lys Single submitter ⚠
• p.Glu125Lys Single submitter ⚠
• p.Glu128Gly Single submitter ⚠
• p.Glu179Gln Single submitter glycogen storage disease V ⚠
• p.Glu196Lys Single submitter glycogen storage disease V ⚠
• p.Glu27Gly Single submitter glycogen storage disease V ⚠
• p.Glu297Gln Single submitter glycogen storage disease V ⚠
• p.Glu406Asp Single submitter ⚠
• p.Glu434del Single submitter glycogen storage disease V
• p.Glu462Gln Single submitter Inborn genetic diseases ⚠
• p.Glu553Lys Single submitter glycogen storage disease V ⚠
• p.Glu699Ala Single submitter glycogen storage disease V ⚠
• p.Glu840Lys Single submitter glycogen storage disease V ⚠
• p.Gly131Arg Single submitter glycogen storage disease V ⚠
• p.Gly152Ser Single submitter glycogen storage disease V ⚠
• p.Gly157= Single submitter glycogen storage disease V
• p.Gly159Arg Single submitter glycogen storage disease V ⚠
• p.Gly261Ser Single submitter glycogen storage disease V ⚠
• p.Gly421Glu Single submitter glycogen storage disease V ⚠
• p.Gly449Ala Single submitter glycogen storage disease V ⚠
• p.Gly449Glu Single submitter glycogen storage disease V ⚠
• p.Gly486Arg Single submitter Inborn genetic diseases ⚠
• p.Gly499Arg Single submitter glycogen storage disease V ⚠
• p.Gly509Arg Single submitter ⚠
• p.Gly638Asp Single submitter glycogen storage disease V ⚠
• p.Gly671Cys Single submitter glycogen storage disease V ⚠
• p.Gly678Arg Single submitter glycogen storage disease V ⚠
• p.Gly726= Single submitter glycogen storage disease V
• p.Gly810Ser Single submitter glycogen storage disease V ⚠
• p.His202Tyr Single submitter PYGM-related disorder ⚠
• p.His206Tyr Single submitter Inborn genetic diseases ⚠
• p.His378Gln Single submitter glycogen storage disease V ⚠
• p.His444Tyr Single submitter Inborn genetic diseases ⚠
• p.His460Arg Single submitter glycogen storage disease V ⚠
• p.His769Arg Single submitter glycogen storage disease V ⚠
• p.His769Pro Single submitter glycogen storage disease V ⚠