ClinVar Miner

List of variants in gene NGLY1 studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 292
Download table as spreadsheet
HGVS dbSNP
NC_000003.11:g.(?_25760931)_(25831376_?)del
NC_000003.11:g.(?_25805537)_(25805822_?)del
NC_000003.11:g.(?_25820055)_(25824881_?)del
NC_000003.12:g.(?_25719440)_(25734002_?)del
NC_000003.12:g.(?_25751078)_(25751283_?)del
NM_018297.4(NGLY1):c.1003+8A>C
NM_018297.4(NGLY1):c.1004-5A>G rs775894052
NM_018297.4(NGLY1):c.1008T>C (p.His336=)
NM_018297.4(NGLY1):c.1025A>G (p.Tyr342Cys) rs757712371
NM_018297.4(NGLY1):c.1030C>T (p.Pro344Ser)
NM_018297.4(NGLY1):c.1033_1035del (p.Ser345del)
NM_018297.4(NGLY1):c.1038G>A (p.Gln346=)
NM_018297.4(NGLY1):c.1042C>T (p.Arg348Trp)
NM_018297.4(NGLY1):c.1043G>A (p.Arg348Gln)
NM_018297.4(NGLY1):c.104T>A (p.Leu35Gln)
NM_018297.4(NGLY1):c.1067A>G (p.Glu356Gly)
NM_018297.4(NGLY1):c.1068A>G (p.Glu356=)
NM_018297.4(NGLY1):c.1084C>G (p.Pro362Ala)
NM_018297.4(NGLY1):c.1120T>C (p.Ser374Pro)
NM_018297.4(NGLY1):c.1122C>G (p.Ser374=)
NM_018297.4(NGLY1):c.1149+8A>G
NM_018297.4(NGLY1):c.1150-1G>C rs532007026
NM_018297.4(NGLY1):c.1150-6T>C
NM_018297.4(NGLY1):c.1161C>T (p.Val387=)
NM_018297.4(NGLY1):c.1164T>C (p.Thr388=)
NM_018297.4(NGLY1):c.1169G>A (p.Arg390Gln) rs1135401728
NM_018297.4(NGLY1):c.1169G>C (p.Arg390Pro) rs1135401728
NM_018297.4(NGLY1):c.1171T>C (p.Tyr391His)
NM_018297.4(NGLY1):c.1174T>G (p.Ser392Ala) rs766571083
NM_018297.4(NGLY1):c.1175C>T (p.Ser392Phe)
NM_018297.4(NGLY1):c.1185T>C (p.His395=) rs370848304
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954
NM_018297.4(NGLY1):c.1202GAA[1] (p.Arg402del) rs587777266
NM_018297.4(NGLY1):c.120C>G (p.Asp40Glu)
NM_018297.4(NGLY1):c.1228C>T (p.Leu410Phe) rs1056459017
NM_018297.4(NGLY1):c.1231C>T (p.Arg411Ter) rs146140738
NM_018297.4(NGLY1):c.1232G>A (p.Arg411Gln)
NM_018297.4(NGLY1):c.1235A>T (p.Asp412Val) rs778513258
NM_018297.4(NGLY1):c.1238C>T (p.Thr413Ile)
NM_018297.4(NGLY1):c.123C>T (p.Asn41=) rs142425326
NM_018297.4(NGLY1):c.1240A>G (p.Ile414Val) rs371004438
NM_018297.4(NGLY1):c.1249C>T (p.Leu417Phe) rs777927774
NM_018297.4(NGLY1):c.1250_1258dup (p.Leu417_Lys419dup)
NM_018297.4(NGLY1):c.1257G>A (p.Lys419=) rs1575616373
NM_018297.4(NGLY1):c.1260+4T>C
NM_018297.4(NGLY1):c.1260+6_1260+7delinsCG
NM_018297.4(NGLY1):c.1260+7T>G rs6550987
NM_018297.4(NGLY1):c.1260G>C (p.Gln420His)
NM_018297.4(NGLY1):c.1261-11A>G rs192062614
NM_018297.4(NGLY1):c.1261-3C>T
NM_018297.4(NGLY1):c.1264C>T (p.Gln422Ter) rs1575614945
NM_018297.4(NGLY1):c.1268T>A (p.Leu423Gln) rs369598638
NM_018297.4(NGLY1):c.1272T>C (p.Phe424=)
NM_018297.4(NGLY1):c.1289G>A (p.Arg430Lys)
NM_018297.4(NGLY1):c.1294G>T (p.Glu432Ter) rs992161646
NM_018297.4(NGLY1):c.12G>A (p.Ala4=)
NM_018297.4(NGLY1):c.1300C>G (p.Leu434Val) rs761035118
NM_018297.4(NGLY1):c.1304A>G (p.Gln435Arg)
NM_018297.4(NGLY1):c.1305G>A (p.Gln435=)
NM_018297.4(NGLY1):c.131+10A>G
NM_018297.4(NGLY1):c.132-14T>C rs77109827
NM_018297.4(NGLY1):c.132-8T>C rs750383442
NM_018297.4(NGLY1):c.1333A>C (p.Ile445Leu) rs144144643
NM_018297.4(NGLY1):c.1345_1346delinsTA (p.Thr449Tyr)
NM_018297.4(NGLY1):c.1354C>T (p.Pro452Ser) rs772810347
NM_018297.4(NGLY1):c.1355C>G (p.Pro452Arg) rs187892679
NM_018297.4(NGLY1):c.1363C>T (p.Leu455Phe)
NM_018297.4(NGLY1):c.1366G>C (p.Gly456Arg)
NM_018297.4(NGLY1):c.1370G>C (p.Gly457Ala)
NM_018297.4(NGLY1):c.1370dup (p.Arg458fs) rs587777265
NM_018297.4(NGLY1):c.1383G>A (p.Gly461=) rs938966609
NM_018297.4(NGLY1):c.1405C>T (p.Arg469Ter) rs768131676
NM_018297.4(NGLY1):c.1409G>A (p.Gly470Asp)
NM_018297.4(NGLY1):c.1415T>C (p.Met472Thr) rs1553652803
NM_018297.4(NGLY1):c.1426-1G>A
NM_018297.4(NGLY1):c.1436C>T (p.Thr479Ile) rs564037973
NM_018297.4(NGLY1):c.1437C>T (p.Thr479=) rs752135335
NM_018297.4(NGLY1):c.1447C>A (p.Pro483Thr) rs766828621
NM_018297.4(NGLY1):c.1448C>T (p.Pro483Leu)
NM_018297.4(NGLY1):c.1449del (p.Cys484fs)
NM_018297.4(NGLY1):c.1451G>C (p.Cys484Ser) rs544148699
NM_018297.4(NGLY1):c.1463A>G (p.Lys488Arg)
NM_018297.4(NGLY1):c.1469C>T (p.Ser490Phe) rs144262689
NM_018297.4(NGLY1):c.1470T>G (p.Ser490=) rs760580010
NM_018297.4(NGLY1):c.1481_1488del (p.His494fs) rs1575612023
NM_018297.4(NGLY1):c.14C>A (p.Ala5Glu)
NM_018297.4(NGLY1):c.1507C>G (p.Arg503Gly)
NM_018297.4(NGLY1):c.1508G>A (p.Arg503His) rs139134926
NM_018297.4(NGLY1):c.1515del (p.Arg506fs)
NM_018297.4(NGLY1):c.1517G>A (p.Arg506Gln) rs146208989
NM_018297.4(NGLY1):c.151T>C (p.Tyr51His)
NM_018297.4(NGLY1):c.1525A>G (p.Asn509Asp)
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs) rs765211108
NM_018297.4(NGLY1):c.1538C>G (p.Thr513Ser)
NM_018297.4(NGLY1):c.154A>C (p.Arg52=)
NM_018297.4(NGLY1):c.1560C>T (p.Gly520=) rs138477428
NM_018297.4(NGLY1):c.1579A>G (p.Ile527Val) rs112237307
NM_018297.4(NGLY1):c.1604G>A (p.Trp535Ter) rs767388144
NM_018297.4(NGLY1):c.1608C>A (p.His536Gln) rs138108375
NM_018297.4(NGLY1):c.1622C>T (p.Ala541Val)
NM_018297.4(NGLY1):c.1624C>T (p.Arg542Ter) rs528583612
NM_018297.4(NGLY1):c.1637C>T (p.Ser546Leu) rs1040190748
NM_018297.4(NGLY1):c.1649A>G (p.Tyr550Cys) rs373792768
NM_018297.4(NGLY1):c.164G>A (p.Arg55Gln)
NM_018297.4(NGLY1):c.165G>T (p.Arg55=)
NM_018297.4(NGLY1):c.1676C>T (p.Ser559Leu)
NM_018297.4(NGLY1):c.1681G>A (p.Gly561Ser)
NM_018297.4(NGLY1):c.1687A>G (p.Lys563Glu)
NM_018297.4(NGLY1):c.1695T>C (p.Asp565=) rs1575604083
NM_018297.4(NGLY1):c.1697G>A (p.Ser566Asn)
NM_018297.4(NGLY1):c.1709G>C (p.Arg570Thr)
NM_018297.4(NGLY1):c.1714A>G (p.Ser572Gly)
NM_018297.4(NGLY1):c.1722A>G (p.Gln574=) rs74650888
NM_018297.4(NGLY1):c.1732A>G (p.Thr578Ala) rs780662676
NM_018297.4(NGLY1):c.1740A>G (p.Thr580=) rs554503189
NM_018297.4(NGLY1):c.1743A>G (p.Val581=) rs766286658
NM_018297.4(NGLY1):c.1748G>A (p.Trp583Ter)
NM_018297.4(NGLY1):c.1757G>A (p.Arg586Gln)
NM_018297.4(NGLY1):c.1771C>G (p.Gln591Glu) rs765145201
NM_018297.4(NGLY1):c.1771C>T (p.Gln591Ter)
NM_018297.4(NGLY1):c.1773A>G (p.Gln591=) rs1165637061
NM_018297.4(NGLY1):c.177del (p.Ala60fs)
NM_018297.4(NGLY1):c.1781T>C (p.Leu594Pro)
NM_018297.4(NGLY1):c.1788C>T (p.Gly596=)
NM_018297.4(NGLY1):c.1789+8T>C
NM_018297.4(NGLY1):c.1790-6T>C
NM_018297.4(NGLY1):c.1790A>G (p.Asp597Gly)
NM_018297.4(NGLY1):c.1794C>T (p.Asn598=) rs1575603526
NM_018297.4(NGLY1):c.1795A>G (p.Ser599Gly) rs200463539
NM_018297.4(NGLY1):c.1796G>A (p.Ser599Asn)
NM_018297.4(NGLY1):c.1805C>G (p.Ser602Cys) rs899798907
NM_018297.4(NGLY1):c.1808A>G (p.Tyr603Cys) rs777069327
NM_018297.4(NGLY1):c.1829C>T (p.Thr610Ile)
NM_018297.4(NGLY1):c.182T>G (p.Phe61Cys)
NM_018297.4(NGLY1):c.1833A>C (p.Glu611Asp)
NM_018297.4(NGLY1):c.1837del (p.Ile613fs)
NM_018297.4(NGLY1):c.1857C>T (p.Ser619=)
NM_018297.4(NGLY1):c.1858A>G (p.Arg620Gly)
NM_018297.4(NGLY1):c.1868_1870del (p.Gly623del) rs771630737
NM_018297.4(NGLY1):c.1869T>C (p.Gly623=) rs73155397
NM_018297.4(NGLY1):c.1875C>G (p.Val625=) rs117889176
NM_018297.4(NGLY1):c.1875C>T (p.Val625=)
NM_018297.4(NGLY1):c.1876G>A (p.Ala626Thr)
NM_018297.4(NGLY1):c.1887C>T (p.His629=)
NM_018297.4(NGLY1):c.1889C>A (p.Thr630Asn) rs891240035
NM_018297.4(NGLY1):c.1891del (p.Gln631fs) rs587776982
NM_018297.4(NGLY1):c.1901G>C (p.Arg634Thr)
NM_018297.4(NGLY1):c.1910del (p.Ser636_Leu637insTer) rs1135401730
NM_018297.4(NGLY1):c.1913A>G (p.Asn638Ser) rs1553649841
NM_018297.4(NGLY1):c.1918C>T (p.His640Tyr) rs529998714
NM_018297.4(NGLY1):c.1941A>T (p.Ile647=)
NM_018297.4(NGLY1):c.1954A>G (p.Ser652Gly)
NM_018297.4(NGLY1):c.200C>T (p.Pro67Leu)
NM_018297.4(NGLY1):c.218A>G (p.Glu73Gly)
NM_018297.4(NGLY1):c.246+5G>A
NM_018297.4(NGLY1):c.246+8T>A rs373747843
NM_018297.4(NGLY1):c.247-1G>A rs1575650389
NM_018297.4(NGLY1):c.247-3C>A
NM_018297.4(NGLY1):c.25T>A (p.Ser9Thr)
NM_018297.4(NGLY1):c.26C>G (p.Ser9Cys)
NM_018297.4(NGLY1):c.286G>A (p.Glu96Lys) rs777476251
NM_018297.4(NGLY1):c.291G>T (p.Gln97His)
NM_018297.4(NGLY1):c.2T>C (p.Met1Thr)
NM_018297.4(NGLY1):c.304C>T (p.Arg102Cys)
NM_018297.4(NGLY1):c.305G>T (p.Arg102Leu)
NM_018297.4(NGLY1):c.319A>C (p.Ile107Leu)
NM_018297.4(NGLY1):c.319A>G (p.Ile107Val) rs757774666
NM_018297.4(NGLY1):c.334A>C (p.Arg112=) rs150281491
NM_018297.4(NGLY1):c.347C>G (p.Ser116Ter) rs907852687
NM_018297.4(NGLY1):c.354G>C (p.Lys118Asn)
NM_018297.4(NGLY1):c.362A>G (p.Lys121Arg)
NM_018297.4(NGLY1):c.364G>A (p.Val122Ile)
NM_018297.4(NGLY1):c.370T>G (p.Ser124Ala)
NM_018297.4(NGLY1):c.384T>G (p.Pro128=)
NM_018297.4(NGLY1):c.388G>A (p.Ala130Thr) rs200042243
NM_018297.4(NGLY1):c.390C>G (p.Ala130=) rs140924312
NM_018297.4(NGLY1):c.3GGC[5] (p.Ala5dup) rs753912717
NM_018297.4(NGLY1):c.403C>G (p.Pro135Ala)
NM_018297.4(NGLY1):c.406A>G (p.Thr136Ala) rs1559551887
NM_018297.4(NGLY1):c.409A>C (p.Thr137Pro)
NM_018297.4(NGLY1):c.419C>T (p.Ser140Leu)
NM_018297.4(NGLY1):c.41C>T (p.Ser14Phe)
NM_018297.4(NGLY1):c.431G>A (p.Gly144Glu) rs1553660431
NM_018297.4(NGLY1):c.448A>G (p.Arg150Gly) rs1559551749
NM_018297.4(NGLY1):c.44C>G (p.Pro15Arg) rs754904758
NM_018297.4(NGLY1):c.452A>G (p.Asn151Ser) rs969104465
NM_018297.4(NGLY1):c.455G>A (p.Arg152His) rs762498007
NM_018297.4(NGLY1):c.468A>G (p.Ser156=) rs776423647
NM_018297.4(NGLY1):c.476C>T (p.Pro159Leu)
NM_018297.4(NGLY1):c.485C>T (p.Ala162Val)
NM_018297.4(NGLY1):c.491C>T (p.Thr164Met) rs749441809
NM_018297.4(NGLY1):c.492+4A>T rs181461044
NM_018297.4(NGLY1):c.492+6G>A rs200608265
NM_018297.4(NGLY1):c.492+7T>C
NM_018297.4(NGLY1):c.493-19dup
NM_018297.4(NGLY1):c.493-4T>G
NM_018297.4(NGLY1):c.493-5A>G rs760591253
NM_018297.4(NGLY1):c.493-9del rs746574174
NM_018297.4(NGLY1):c.494T>G (p.Val165Gly)
NM_018297.4(NGLY1):c.498T>G (p.Ala166=)
NM_018297.4(NGLY1):c.508G>A (p.Ala170Thr)
NM_018297.4(NGLY1):c.519A>G (p.Glu173=) rs1197877731
NM_018297.4(NGLY1):c.521T>G (p.Val174Gly)
NM_018297.4(NGLY1):c.539A>G (p.Gln180Arg)
NM_018297.4(NGLY1):c.53C>T (p.Ala18Val) rs776883349
NM_018297.4(NGLY1):c.544G>A (p.Val182Met)
NM_018297.4(NGLY1):c.548T>C (p.Leu183Pro)
NM_018297.4(NGLY1):c.550G>A (p.Val184Ile)
NM_018297.4(NGLY1):c.550G>T (p.Val184Phe) rs139636452
NM_018297.4(NGLY1):c.552C>T (p.Val184=) rs201451376
NM_018297.4(NGLY1):c.554A>G (p.Tyr185Cys)
NM_018297.4(NGLY1):c.57G>A (p.Glu19=) rs146946624
NM_018297.4(NGLY1):c.580G>A (p.Ala194Thr)
NM_018297.4(NGLY1):c.581C>T (p.Ala194Val)
NM_018297.4(NGLY1):c.582G>A (p.Ala194=) rs373961978
NM_018297.4(NGLY1):c.586G>T (p.Ala196Ser)
NM_018297.4(NGLY1):c.588T>G (p.Ala196=)
NM_018297.4(NGLY1):c.591T>C (p.Cys197=) rs371185733
NM_018297.4(NGLY1):c.596C>T (p.Pro199Leu) rs760530009
NM_018297.4(NGLY1):c.597G>A (p.Pro199=)
NM_018297.4(NGLY1):c.603A>G (p.Gln201=)
NM_018297.4(NGLY1):c.609A>G (p.Leu203=) rs146227168
NM_018297.4(NGLY1):c.622C>T (p.Gln208Ter) rs200561967
NM_018297.4(NGLY1):c.626A>G (p.Glu209Gly)
NM_018297.4(NGLY1):c.629A>C (p.Lys210Thr) rs1553657104
NM_018297.4(NGLY1):c.633A>T (p.Leu211Phe)
NM_018297.4(NGLY1):c.636G>A (p.Ser212=) rs201479575
NM_018297.4(NGLY1):c.636G>T (p.Ser212=) rs201479575
NM_018297.4(NGLY1):c.642T>C (p.Ala214=) rs781344542
NM_018297.4(NGLY1):c.643A>G (p.Arg215Gly) rs551759932
NM_018297.4(NGLY1):c.646A>G (p.Lys216Glu) rs148972130
NM_018297.4(NGLY1):c.648A>G (p.Lys216=) rs563065066
NM_018297.4(NGLY1):c.658+1G>A
NM_018297.4(NGLY1):c.658+7G>C rs752709827
NM_018297.4(NGLY1):c.659G>A (p.Gly220Asp) rs748862974
NM_018297.4(NGLY1):c.663C>T (p.Ile221=) rs373934325
NM_018297.4(NGLY1):c.667A>G (p.Ile223Val) rs201904265
NM_018297.4(NGLY1):c.690G>T (p.Leu230Phe)
NM_018297.4(NGLY1):c.708G>T (p.Trp236Cys) rs1575622282
NM_018297.4(NGLY1):c.717A>C (p.Glu239Asp) rs754083716
NM_018297.4(NGLY1):c.726dup (p.His243fs)
NM_018297.4(NGLY1):c.728A>C (p.His243Pro) rs1553654596
NM_018297.4(NGLY1):c.729C>G (p.His243Gln)
NM_018297.4(NGLY1):c.730T>C (p.Trp244Arg) rs1135401729
NM_018297.4(NGLY1):c.736A>T (p.Asn246Tyr)
NM_018297.4(NGLY1):c.741C>T (p.Asn247=)
NM_018297.4(NGLY1):c.745T>C (p.Leu249=)
NM_018297.4(NGLY1):c.750C>T (p.Cys250=)
NM_018297.4(NGLY1):c.761G>T (p.Gly254Val)
NM_018297.4(NGLY1):c.773G>A (p.Arg258Lys)
NM_018297.4(NGLY1):c.776C>G (p.Ser259Cys)
NM_018297.4(NGLY1):c.783T>C (p.Asp261=)
NM_018297.4(NGLY1):c.800G>T (p.Ser267Ile) rs147901411
NM_018297.4(NGLY1):c.801T>C (p.Ser267=)
NM_018297.4(NGLY1):c.815A>C (p.Lys272Thr) rs1553654532
NM_018297.4(NGLY1):c.818G>C (p.Trp273Ser) rs202027326
NM_018297.4(NGLY1):c.823G>A (p.Ala275Thr)
NM_018297.4(NGLY1):c.829G>C (p.Glu277Gln)
NM_018297.4(NGLY1):c.834G>A (p.Val278=) rs1437417087
NM_018297.4(NGLY1):c.837A>G (p.Glu279=) rs920352938
NM_018297.4(NGLY1):c.841C>T (p.His281Tyr) rs200446388
NM_018297.4(NGLY1):c.849T>G (p.Cys283Trp)
NM_018297.4(NGLY1):c.854C>G (p.Ala285Gly)
NM_018297.4(NGLY1):c.857_873del (p.Cys286fs) rs1375323331
NM_018297.4(NGLY1):c.869A>G (p.Asn290Ser) rs370175393
NM_018297.4(NGLY1):c.871C>T (p.Arg291Ter) rs772994617
NM_018297.4(NGLY1):c.872G>A (p.Arg291Gln) rs769627493
NM_018297.4(NGLY1):c.880A>G (p.Arg294Gly)
NM_018297.4(NGLY1):c.881+10C>G
NM_018297.4(NGLY1):c.881+5G>T rs1135401731
NM_018297.4(NGLY1):c.881+8C>T rs143998271
NM_018297.4(NGLY1):c.882-7A>T rs1575620004
NM_018297.4(NGLY1):c.889A>T (p.Asn297Tyr)
NM_018297.4(NGLY1):c.88G>A (p.Glu30Lys)
NM_018297.4(NGLY1):c.894T>A (p.Pro298=)
NM_018297.4(NGLY1):c.897G>T (p.Glu299Asp) rs201068823
NM_018297.4(NGLY1):c.901C>G (p.Leu301Val)
NM_018297.4(NGLY1):c.904T>C (p.Leu302=)
NM_018297.4(NGLY1):c.91G>A (p.Ala31Thr)
NM_018297.4(NGLY1):c.923G>A (p.Arg308Gln)
NM_018297.4(NGLY1):c.930C>T (p.Gly310=) rs745814294
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys) rs201791209
NM_018297.4(NGLY1):c.951A>G (p.Thr317=)
NM_018297.4(NGLY1):c.954G>C (p.Leu318=)
NM_018297.4(NGLY1):c.959G>C (p.Cys320Ser)
NM_018297.4(NGLY1):c.961C>T (p.Arg321Ter) rs755009745
NM_018297.4(NGLY1):c.962G>A (p.Arg321Gln)
NM_018297.4(NGLY1):c.967G>A (p.Val323Ile) rs1279950302
NM_018297.4(NGLY1):c.96C>G (p.Ser32=) rs1454302547
NM_018297.4(NGLY1):c.978_980del (p.Glu326_Ala327delinsAsp) rs761634625
NM_018297.4(NGLY1):c.979G>A (p.Ala327Thr)
NM_018297.4(NGLY1):c.999C>A (p.Tyr333Ter)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.