ClinVar Miner

List of variants in gene NGLY1 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: 163
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HGVS dbSNP
NC_000003.11:g.(?_25805537)_(25805822_?)del
NC_000003.12:g.(?_25719440)_(25734002_?)del
NM_018297.4(NGLY1):c.1030C>T (p.Pro344Ser)
NM_018297.4(NGLY1):c.1033_1035del (p.Ser345del)
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.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.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.120C>G (p.Asp40Glu)
NM_018297.4(NGLY1):c.1228C>T (p.Leu410Phe) rs1056459017
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.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.1260+4T>C
NM_018297.4(NGLY1):c.1260+6_1260+7delinsCG
NM_018297.4(NGLY1):c.1260G>C (p.Gln420His)
NM_018297.4(NGLY1):c.1261-3C>T
NM_018297.4(NGLY1):c.1268T>A (p.Leu423Gln) rs369598638
NM_018297.4(NGLY1):c.1289G>A (p.Arg430Lys)
NM_018297.4(NGLY1):c.1300C>G (p.Leu434Val) rs761035118
NM_018297.4(NGLY1):c.1304A>G (p.Gln435Arg)
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.1409G>A (p.Gly470Asp)
NM_018297.4(NGLY1):c.1415T>C (p.Met472Thr) rs1553652803
NM_018297.4(NGLY1):c.1447C>A (p.Pro483Thr) rs766828621
NM_018297.4(NGLY1):c.1448C>T (p.Pro483Leu)
NM_018297.4(NGLY1):c.1463A>G (p.Lys488Arg)
NM_018297.4(NGLY1):c.1469C>T (p.Ser490Phe) rs144262689
NM_018297.4(NGLY1):c.14C>A (p.Ala5Glu)
NM_018297.4(NGLY1):c.1507C>G (p.Arg503Gly)
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.1538C>G (p.Thr513Ser)
NM_018297.4(NGLY1):c.1622C>T (p.Ala541Val)
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.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.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.1732A>G (p.Thr578Ala) rs780662676
NM_018297.4(NGLY1):c.1757G>A (p.Arg586Gln)
NM_018297.4(NGLY1):c.1771C>G (p.Gln591Glu) rs765145201
NM_018297.4(NGLY1):c.1773A>G (p.Gln591=) rs1165637061
NM_018297.4(NGLY1):c.1781T>C (p.Leu594Pro)
NM_018297.4(NGLY1):c.1788C>T (p.Gly596=)
NM_018297.4(NGLY1):c.1790A>G (p.Asp597Gly)
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.1858A>G (p.Arg620Gly)
NM_018297.4(NGLY1):c.1868_1870del (p.Gly623del) rs771630737
NM_018297.4(NGLY1):c.1876G>A (p.Ala626Thr)
NM_018297.4(NGLY1):c.1889C>A (p.Thr630Asn) rs891240035
NM_018297.4(NGLY1):c.1901G>C (p.Arg634Thr)
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.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.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.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.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.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+6G>A rs200608265
NM_018297.4(NGLY1):c.493-4T>G
NM_018297.4(NGLY1):c.494T>G (p.Val165Gly)
NM_018297.4(NGLY1):c.508G>A (p.Ala170Thr)
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.554A>G (p.Tyr185Cys)
NM_018297.4(NGLY1):c.580G>A (p.Ala194Thr)
NM_018297.4(NGLY1):c.581C>T (p.Ala194Val)
NM_018297.4(NGLY1):c.586G>T (p.Ala196Ser)
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.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.646A>G (p.Lys216Glu) rs148972130
NM_018297.4(NGLY1):c.659G>A (p.Gly220Asp) rs748862974
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.728A>C (p.His243Pro) rs1553654596
NM_018297.4(NGLY1):c.729C>G (p.His243Gln)
NM_018297.4(NGLY1):c.736A>T (p.Asn246Tyr)
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.800G>T (p.Ser267Ile) rs147901411
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.841C>T (p.His281Tyr) rs200446388
NM_018297.4(NGLY1):c.854C>G (p.Ala285Gly)
NM_018297.4(NGLY1):c.872G>A (p.Arg291Gln) rs769627493
NM_018297.4(NGLY1):c.880A>G (p.Arg294Gly)
NM_018297.4(NGLY1):c.889A>T (p.Asn297Tyr)
NM_018297.4(NGLY1):c.88G>A (p.Glu30Lys)
NM_018297.4(NGLY1):c.897G>T (p.Glu299Asp) rs201068823
NM_018297.4(NGLY1):c.901C>G (p.Leu301Val)
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.959G>C (p.Cys320Ser)
NM_018297.4(NGLY1):c.962G>A (p.Arg321Gln)
NM_018297.4(NGLY1):c.967G>A (p.Val323Ile) rs1279950302
NM_018297.4(NGLY1):c.978_980del (p.Glu326_Ala327delinsAsp) rs761634625
NM_018297.4(NGLY1):c.979G>A (p.Ala327Thr)

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