ClinVar Miner

List of variants in gene PYGM reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 161
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HGVS dbSNP
NC_000011.9:g.(?_64518138_64519390del
NM_001164716.1(PYGM):c.-146C>A rs764403406
NM_001164716.1(PYGM):c.-234C>T rs886048466
NM_001164716.1(PYGM):c.-556C>G rs886048467
NM_001164716.1(PYGM):c.-668C>T rs886048468
NM_001164716.1(PYGM):c.-724C>G rs754685048
NM_001164716.1(PYGM):c.-789T>C rs143460923
NM_005609.4(PYGM):c.*80G>A
NM_005609.4(PYGM):c.-20C>T
NM_005609.4(PYGM):c.-23G>A rs886048465
NM_005609.4(PYGM):c.1011G>A (p.Gln337=) rs767039732
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg)
NM_005609.4(PYGM):c.1083C>T (p.Asp361=) rs141959242
NM_005609.4(PYGM):c.1092+15C>T
NM_005609.4(PYGM):c.1092+6dup rs368602234
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678
NM_005609.4(PYGM):c.1110G>A (p.Val370=) rs372719040
NM_005609.4(PYGM):c.1126A>G (p.Thr376Ala)
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr) rs954192338
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val) rs1465752595
NM_005609.4(PYGM):c.1164G>C (p.Trp388Cys)
NM_005609.4(PYGM):c.1175T>C (p.Leu392Pro) rs759336535
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu) rs773204705
NM_005609.4(PYGM):c.1196G>A (p.Arg399Gln) rs548646628
NM_005609.4(PYGM):c.1198C>T (p.His400Tyr)
NM_005609.4(PYGM):c.1216G>A (p.Glu406Lys)
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr) rs142054672
NM_005609.4(PYGM):c.1239+12G>A rs760471706
NM_005609.4(PYGM):c.1239+8C>T rs886048461
NM_005609.4(PYGM):c.1239+9G>A rs374937711
NM_005609.4(PYGM):c.1247C>T (p.Ala416Val)
NM_005609.4(PYGM):c.1266C>T (p.Asp422=) rs769602726
NM_005609.4(PYGM):c.1282C>T (p.Arg428Cys) rs750700202
NM_005609.4(PYGM):c.1312_1314dup (p.Lys438dup) rs1555135069
NM_005609.4(PYGM):c.1343C>T (p.Ala448Val) rs370291854
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu) rs756251887
NM_005609.4(PYGM):c.1357G>A (p.Val453Ile) rs151213354
NM_005609.4(PYGM):c.1375A>G (p.Ile459Val)
NM_005609.4(PYGM):c.1384G>A (p.Glu462Lys)
NM_005609.4(PYGM):c.1403+5G>A
NM_005609.4(PYGM):c.1433A>G (p.His478Arg) rs758131128
NM_005609.4(PYGM):c.1436A>G (p.Lys479Arg) rs750032282
NM_005609.4(PYGM):c.1463C>A (p.Thr488Asn) rs1555134900
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser) rs752622662
NM_005609.4(PYGM):c.149G>A (p.Arg50Gln)
NM_005609.4(PYGM):c.1520G>A (p.Arg507His)
NM_005609.4(PYGM):c.152ACT[4] (p.Tyr53dup) rs1325298827
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786
NM_005609.4(PYGM):c.1558C>T (p.Arg520Cys)
NM_005609.4(PYGM):c.160T>G (p.Phe54Val) rs148839812
NM_005609.4(PYGM):c.1620+6G>A
NM_005609.4(PYGM):c.1629G>A (p.Lys543=)
NM_005609.4(PYGM):c.1692C>T (p.Phe564=) rs116812032
NM_005609.4(PYGM):c.1723A>G (p.Lys575Glu) rs1315020035
NM_005609.4(PYGM):c.1748A>G (p.His583Arg)
NM_005609.4(PYGM):c.1766A>G (p.Asn589Ser)
NM_005609.4(PYGM):c.1769-7T>C
NM_005609.4(PYGM):c.177C>T (p.Thr59=)
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser) rs150622626
NM_005609.4(PYGM):c.178G>A (p.Val60Met) rs765962705
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458
NM_005609.4(PYGM):c.182G>A (p.Arg61His) rs145514333
NM_005609.4(PYGM):c.1859T>C (p.Ile620Thr)
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile) rs143217651
NM_005609.4(PYGM):c.1915G>T (p.Asp639Tyr) rs1592409000
NM_005609.4(PYGM):c.1918C>T (p.Arg640Cys) rs771016457
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys) rs116180923
NM_005609.4(PYGM):c.1925G>A (p.Arg642His) rs150098198
NM_005609.4(PYGM):c.193G>A (p.Val65Met)
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659
NM_005609.4(PYGM):c.2032G>A (p.Gly678Ser)
NM_005609.4(PYGM):c.2047A>G (p.Met683Val)
NM_005609.4(PYGM):c.2053A>C (p.Asn685His) rs1592408348
NM_005609.4(PYGM):c.2078T>C (p.Met693Thr) rs200688234
NM_005609.4(PYGM):c.2082C>T (p.Asp694=) rs773543072
NM_005609.4(PYGM):c.208C>T (p.Arg70Cys) rs765844107
NM_005609.4(PYGM):c.2107G>A (p.Glu703Lys)
NM_005609.4(PYGM):c.2143C>A (p.Arg715=)
NM_005609.4(PYGM):c.2177+7G>A rs201366697
NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp)
NM_005609.4(PYGM):c.2199C>T (p.Tyr733=) rs140102591
NM_005609.4(PYGM):c.2204G>A (p.Arg735His)
NM_005609.4(PYGM):c.2249TCT[1] (p.Phe751del) rs758842259
NM_005609.4(PYGM):c.2268C>T (p.Pro756=) rs144229867
NM_005609.4(PYGM):c.2278A>C (p.Lys760Gln)
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp) rs190548494
NM_005609.4(PYGM):c.22C>A (p.Gln8Lys) rs886048464
NM_005609.4(PYGM):c.2311C>T (p.Arg771Trp) rs369382075
NM_005609.4(PYGM):c.2312+3G>C rs1555133430
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln) rs150911354
NM_005609.4(PYGM):c.2319A>C (p.Lys773Asn)
NM_005609.4(PYGM):c.2322C>T (p.Val774=)
NM_005609.4(PYGM):c.2367C>G (p.Ser789Arg)
NM_005609.4(PYGM):c.2373G>T (p.Leu791Phe)
NM_005609.4(PYGM):c.2375A>G (p.Tyr792Cys) rs757292296
NM_005609.4(PYGM):c.2382C>T (p.Asn794=) rs540487525
NM_005609.4(PYGM):c.2389G>C (p.Glu797Gln) rs577589879
NM_005609.4(PYGM):c.2396C>T (p.Thr799Met)
NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp) rs759260599
NM_005609.4(PYGM):c.2412G>A (p.Arg804=) rs199927544
NM_005609.4(PYGM):c.2437T>C (p.Ser813Pro)
NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys) rs143177272
NM_005609.4(PYGM):c.2447G>A (p.Arg816His) rs139230055
NM_005609.4(PYGM):c.2450C>A (p.Thr817Asn) rs886048460
NM_005609.4(PYGM):c.2465C>A (p.Ala822Asp) rs747567834
NM_005609.4(PYGM):c.2494C>T (p.Arg832Cys)
NM_005609.4(PYGM):c.2516A>T (p.Asp839Val)
NM_005609.4(PYGM):c.2527T>A (p.Ter843Arg) rs1400353740
NM_005609.4(PYGM):c.256C>T (p.Leu86=) rs541817643
NM_005609.4(PYGM):c.330C>T (p.Asp110=) rs114742918
NM_005609.4(PYGM):c.338C>T (p.Thr113Ile)
NM_005609.4(PYGM):c.346-9C>T rs368998655
NM_005609.4(PYGM):c.346C>G (p.Leu116Val)
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro) rs776680924
NM_005609.4(PYGM):c.389C>T (p.Ala130Val) rs200430286
NM_005609.4(PYGM):c.391G>A (p.Gly131Arg)
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_005609.4(PYGM):c.425-26A>G rs764313717
NM_005609.4(PYGM):c.463G>A (p.Ala155Thr)
NM_005609.4(PYGM):c.470G>A (p.Gly157Asp)
NM_005609.4(PYGM):c.475G>A (p.Gly159Arg) rs760654579
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys) rs200038732
NM_005609.4(PYGM):c.502A>C (p.Asn168His)
NM_005609.4(PYGM):c.517G>A (p.Gly173Arg) rs141265458
NM_005609.4(PYGM):c.521G>A (p.Gly174Asp) rs1555136375
NM_005609.4(PYGM):c.527A>C (p.Gln176Pro)
NM_005609.4(PYGM):c.537G>A (p.Glu179=) rs886048462
NM_005609.4(PYGM):c.540C>T (p.Ala180=) rs148731983
NM_005609.4(PYGM):c.541G>A (p.Asp181Asn) rs551666681
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp)
NM_005609.4(PYGM):c.589T>C (p.Phe197Leu) rs773595572
NM_005609.4(PYGM):c.606C>T (p.His202=) rs79860859
NM_005609.4(PYGM):c.612C>T (p.Tyr204=) rs200467937
NM_005609.4(PYGM):c.61G>A (p.Gly21Ser) rs145881639
NM_005609.4(PYGM):c.63C>T (p.Gly21=) rs368124628
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896
NM_005609.4(PYGM):c.64G>A (p.Val22Met) rs140731551
NM_005609.4(PYGM):c.658C>A (p.Gln220Lys)
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258
NM_005609.4(PYGM):c.661-599G>T
NM_005609.4(PYGM):c.667C>G (p.Leu223Val)
NM_005609.4(PYGM):c.67_75del (p.Glu23_Val25del) rs1555136828
NM_005609.4(PYGM):c.728G>A (p.Arg243His)
NM_005609.4(PYGM):c.735G>T (p.Trp245Cys) rs779706675
NM_005609.4(PYGM):c.736T>C (p.Ser246Pro) rs1555135785
NM_005609.4(PYGM):c.752A>G (p.Asn251Ser) rs143071876
NM_005609.4(PYGM):c.776A>G (p.Asn259Ser) rs115690781
NM_005609.4(PYGM):c.780C>T (p.Val260=)
NM_005609.4(PYGM):c.7C>T (p.Arg3Trp)
NM_005609.4(PYGM):c.818C>T (p.Ala273Val) rs768576604
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro) rs780375860
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp) rs558267822
NM_005609.4(PYGM):c.8G>A (p.Arg3Gln) rs374812974
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186
NM_005609.4(PYGM):c.928C>T (p.Arg310Cys)
NM_005609.4(PYGM):c.951C>T (p.Phe317=) rs71581789
NM_005609.4(PYGM):c.967G>T (p.Val323Leu)
NM_005609.4(PYGM):c.982G>C (p.Asp328His)
NM_005609.4(PYGM):c.98A>G (p.Asn33Ser) rs886048463
NM_005609.4(PYGM):c.999+9C>T rs183026465

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