ClinVar Miner

List of variants in gene PYGM reported as uncertain significance

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Total variants: 117
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HGVS dbSNP
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.-23G>A rs886048465
NM_005609.4(PYGM):c.1011G>A (p.Gln337=) rs767039732
NM_005609.4(PYGM):c.1083C>T (p.Asp361=) rs141959242
NM_005609.4(PYGM):c.1092+6dup rs368602234
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr) rs954192338
NM_005609.4(PYGM):c.1143G>A (p.Leu381=) rs143401208
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val) rs1465752595
NM_005609.4(PYGM):c.1160G>A (p.Arg387His) rs200357590
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.1218G>T (p.Glu406Asp) rs757762621
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.1266C>T (p.Asp422=) rs769602726
NM_005609.4(PYGM):c.1272C>A (p.Asp424Glu) rs372851103
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.131G>A (p.Arg44His) rs567482511
NM_005609.4(PYGM):c.1339A>C (p.Ile447Leu) rs568496266
NM_005609.4(PYGM):c.1342G>A (p.Ala448Thr) rs749358752
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)
NM_005609.4(PYGM):c.1429C>A (p.Pro477Thr) rs1565534916
NM_005609.4(PYGM):c.1433A>G (p.His478Arg) rs758131128
NM_005609.4(PYGM):c.1436A>G (p.Lys479Arg)
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.152_154ACT[4] (p.Tyr53dup) rs1325298827
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786
NM_005609.4(PYGM):c.160T>G (p.Phe54Val)
NM_005609.4(PYGM):c.1620+3G>T rs548943016
NM_005609.4(PYGM):c.1697T>G (p.Ile566Ser) rs1565534289
NM_005609.4(PYGM):c.1723A>G (p.Lys575Glu) rs1315020035
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser) rs150622626
NM_005609.4(PYGM):c.178G>A (p.Val60Met)
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)
NM_005609.4(PYGM):c.1834C>G (p.Pro612Ala) rs1419658107
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile) rs143217651
NM_005609.4(PYGM):c.1886A>G (p.Asp629Gly) rs1451559399
NM_005609.4(PYGM):c.1915G>T (p.Asp639Tyr)
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.1957C>G (p.Leu653Val) rs61736659
NM_005609.4(PYGM):c.2024C>T (p.Ser675Leu) rs794727189
NM_005609.4(PYGM):c.2053A>C (p.Asn685His)
NM_005609.4(PYGM):c.2078T>C (p.Met693Thr)
NM_005609.4(PYGM):c.208C>T (p.Arg70Cys) rs765844107
NM_005609.4(PYGM):c.2147T>G (p.Val716Gly) rs750483467
NM_005609.4(PYGM):c.2165T>G (p.Leu722Arg) rs1131691265
NM_005609.4(PYGM):c.2177+7G>A rs201366697
NM_005609.4(PYGM):c.2249_2251TCT[1] (p.Phe751del) rs758842259
NM_005609.4(PYGM):c.2268C>T (p.Pro756=) rs144229867
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.2309A>C (p.Asp770Ala) rs1565531372
NM_005609.4(PYGM):c.2311C>G (p.Arg771Gly) rs369382075
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.2375A>G (p.Tyr792Cys)
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.2398C>T (p.Arg800Trp) rs759260599
NM_005609.4(PYGM):c.2412G>A (p.Arg804=) rs199927544
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)
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.347T>C (p.Leu116Pro) rs776680924
NM_005609.4(PYGM):c.352C>T (p.Leu118=) rs770341565
NM_005609.4(PYGM):c.395_408del (p.Leu132fs) rs1565538121
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_005609.4(PYGM):c.425-26A>G rs764313717
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.517G>A (p.Gly173Arg) rs141265458
NM_005609.4(PYGM):c.521G>A (p.Gly174Asp) rs1555136375
NM_005609.4(PYGM):c.537G>A (p.Glu179=) rs886048462
NM_005609.4(PYGM):c.541G>A (p.Asp181Asn) rs551666681
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.618T>A (p.His206Gln) rs371343340
NM_005609.4(PYGM):c.61G>A (p.Gly21Ser) rs145881639
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.660G>A (p.Gln220=) rs142234258
NM_005609.4(PYGM):c.661-5del
NM_005609.4(PYGM):c.661-9C>T rs776779910
NM_005609.4(PYGM):c.67_75del (p.Glu23_Val25del) rs1555136828
NM_005609.4(PYGM):c.735G>T (p.Trp245Cys)
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.818C>T (p.Ala273Val) rs768576604
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011
NM_005609.4(PYGM):c.855+5G>A
NM_005609.4(PYGM):c.856-2A>C rs1565536363
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.98A>G (p.Asn33Ser) rs886048463
NM_005609.4(PYGM):c.999+20C>T rs201711087

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