ClinVar Miner

List of variants in gene NAGLU reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 172
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HGVS dbSNP
NM_000263.3(NAGLU):c.-138A>G rs76407245
NM_000263.3(NAGLU):c.-200G>C rs114904267
NM_000263.4(NAGLU):c.1005T>C (p.Tyr335=) rs756871462
NM_000263.4(NAGLU):c.1021+8G>T
NM_000263.4(NAGLU):c.1032G>A (p.Glu344=) rs771833491
NM_000263.4(NAGLU):c.105C>T (p.Leu35=)
NM_000263.4(NAGLU):c.1068C>T (p.His356=)
NM_000263.4(NAGLU):c.1074G>A (p.Pro358=)
NM_000263.4(NAGLU):c.1086G>A (p.Gly362=) rs754413995
NM_000263.4(NAGLU):c.1089C>T (p.Pro363=)
NM_000263.4(NAGLU):c.108G>T (p.Val36=)
NM_000263.4(NAGLU):c.1107G>T (p.Val369=)
NM_000263.4(NAGLU):c.1113A>G (p.Gly371=) rs1469438575
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965
NM_000263.4(NAGLU):c.1124G>A (p.Arg375His)
NM_000263.4(NAGLU):c.1149G>A (p.Leu383=)
NM_000263.4(NAGLU):c.114G>C (p.Arg38=)
NM_000263.4(NAGLU):c.1176C>T (p.Thr392=)
NM_000263.4(NAGLU):c.1200G>A (p.Gln400=)
NM_000263.4(NAGLU):c.1209C>A (p.Ile403=)
NM_000263.4(NAGLU):c.120G>T (p.Leu40=)
NM_000263.4(NAGLU):c.1224C>T (p.His408=)
NM_000263.4(NAGLU):c.1233G>T (p.Gly411=)
NM_000263.4(NAGLU):c.123G>T (p.Gly41=)
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=) rs200715586
NM_000263.4(NAGLU):c.1278C>T (p.Gly426=)
NM_000263.4(NAGLU):c.1290C>T (p.Ala430=)
NM_000263.4(NAGLU):c.1299C>T (p.Phe433=)
NM_000263.4(NAGLU):c.1305C>T (p.Asn435=)
NM_000263.4(NAGLU):c.1308C>T (p.Ser436=)
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met) rs138695961
NM_000263.4(NAGLU):c.1323G>A (p.Thr441=)
NM_000263.4(NAGLU):c.1326C>A (p.Gly442=)
NM_000263.4(NAGLU):c.1332C>T (p.Ala444=)
NM_000263.4(NAGLU):c.1335C>T (p.Pro445=) rs202033889
NM_000263.4(NAGLU):c.1344C>T (p.Ile448=)
NM_000263.4(NAGLU):c.1346G>A (p.Ser449Asn) rs114605439
NM_000263.4(NAGLU):c.1347C>T (p.Ser449=)
NM_000263.4(NAGLU):c.1353C>T (p.Asn451=) rs200029453
NM_000263.4(NAGLU):c.1386C>G (p.Gly462=)
NM_000263.4(NAGLU):c.1401A>G (p.Pro467=) rs143938936
NM_000263.4(NAGLU):c.1407A>G (p.Pro469=)
NM_000263.4(NAGLU):c.141C>T (p.Asp47=)
NM_000263.4(NAGLU):c.1437C>T (p.Ala479=)
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=) rs115994665
NM_000263.4(NAGLU):c.1452G>A (p.Gly484=)
NM_000263.4(NAGLU):c.1464G>A (p.Pro488=) rs140956564
NM_000263.4(NAGLU):c.1467C>T (p.Asp489=) rs115550028
NM_000263.4(NAGLU):c.1479G>A (p.Ala493=) rs113379621
NM_000263.4(NAGLU):c.147C>T (p.Ser49=)
NM_000263.4(NAGLU):c.1488A>G (p.Leu496=) rs752971320
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577
NM_000263.4(NAGLU):c.1539T>C (p.Asn513=)
NM_000263.4(NAGLU):c.153G>C (p.Ser51=)
NM_000263.4(NAGLU):c.153G>T (p.Ser51=)
NM_000263.4(NAGLU):c.1542T>C (p.Arg514=)
NM_000263.4(NAGLU):c.1548G>A (p.Pro516=)
NM_000263.4(NAGLU):c.159G>A (p.Glu53=) rs910639529
NM_000263.4(NAGLU):c.15G>T (p.Ala5=)
NM_000263.4(NAGLU):c.1605T>C (p.Asp535=)
NM_000263.4(NAGLU):c.1617C>T (p.Ala539=) rs149875730
NM_000263.4(NAGLU):c.1621C>A (p.Arg541=)
NM_000263.4(NAGLU):c.1623G>A (p.Arg541=)
NM_000263.4(NAGLU):c.1623G>C (p.Arg541=) rs146438251
NM_000263.4(NAGLU):c.1624C>T (p.Leu542=)
NM_000263.4(NAGLU):c.1632C>A (p.Leu544=)
NM_000263.4(NAGLU):c.1638T>C (p.Ser546=)
NM_000263.4(NAGLU):c.1644C>G (p.Pro548=)
NM_000263.4(NAGLU):c.1656C>T (p.Thr552=)
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=) rs368521316
NM_000263.4(NAGLU):c.1677C>T (p.Asp559=) rs760741593
NM_000263.4(NAGLU):c.1686C>T (p.Asp562=)
NM_000263.4(NAGLU):c.1701A>G (p.Ala567=)
NM_000263.4(NAGLU):c.1722G>A (p.Leu574=)
NM_000263.4(NAGLU):c.1743C>T (p.Ser581=)
NM_000263.4(NAGLU):c.1770C>T (p.Ser590=)
NM_000263.4(NAGLU):c.1788C>G (p.Gly596=)
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) rs115166595
NM_000263.4(NAGLU):c.1794G>A (p.Leu598=)
NM_000263.4(NAGLU):c.1797C>G (p.Ala599=) rs146715254
NM_000263.4(NAGLU):c.1821C>T (p.Asp607=) rs750401625
NM_000263.4(NAGLU):c.1828C>T (p.Leu610=)
NM_000263.4(NAGLU):c.1839C>T (p.Asp613=)
NM_000263.4(NAGLU):c.183C>G (p.Gly61=)
NM_000263.4(NAGLU):c.1884G>A (p.Ala628=)
NM_000263.4(NAGLU):c.1890C>G (p.Val630=)
NM_000263.4(NAGLU):c.1899C>T (p.Ala633=) rs767268083
NM_000263.4(NAGLU):c.18G>A (p.Val6=) rs1599253491
NM_000263.4(NAGLU):c.18G>C (p.Val6=)
NM_000263.4(NAGLU):c.1905C>T (p.Ala635=)
NM_000263.4(NAGLU):c.1914C>T (p.Tyr638=)
NM_000263.4(NAGLU):c.1950G>A (p.Gly650=)
NM_000263.4(NAGLU):c.1980C>T (p.Asn660=)
NM_000263.4(NAGLU):c.198C>T (p.Ser66=)
NM_000263.4(NAGLU):c.1992G>A (p.Ala664=)
NM_000263.4(NAGLU):c.199C>T (p.Leu67=)
NM_000263.4(NAGLU):c.2016C>T (p.Thr672=)
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=) rs115401566
NM_000263.4(NAGLU):c.2055T>C (p.Ser685=)
NM_000263.4(NAGLU):c.2103C>T (p.Val701=)
NM_000263.4(NAGLU):c.2124C>T (p.Phe708=)
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=) rs114687267
NM_000263.4(NAGLU):c.219G>A (p.Ala73=)
NM_000263.4(NAGLU):c.2208_2209delinsTG (p.Arg737Gly)
NM_000263.4(NAGLU):c.2220C>T (p.Ala740=)
NM_000263.4(NAGLU):c.228G>A (p.Arg76=)
NM_000263.4(NAGLU):c.255C>T (p.Ala85=)
NM_000263.4(NAGLU):c.265C>T (p.Leu89=)
NM_000263.4(NAGLU):c.270C>T (p.His90=)
NM_000263.4(NAGLU):c.273C>T (p.Arg91=)
NM_000263.4(NAGLU):c.276C>T (p.Tyr92=)
NM_000263.4(NAGLU):c.27G>T (p.Ala9=)
NM_000263.4(NAGLU):c.282C>T (p.Arg94=) rs866267579
NM_000263.4(NAGLU):c.30G>T (p.Val10=)
NM_000263.4(NAGLU):c.340C>T (p.Leu114=)
NM_000263.4(NAGLU):c.345A>G (p.Pro115=)
NM_000263.4(NAGLU):c.348C>G (p.Ala116=)
NM_000263.4(NAGLU):c.348C>T (p.Ala116=) rs559674042
NM_000263.4(NAGLU):c.351G>T (p.Val117=) rs1436378685
NM_000263.4(NAGLU):c.366C>A (p.Thr122=)
NM_000263.4(NAGLU):c.366C>G (p.Thr122=)
NM_000263.4(NAGLU):c.383+10C>T
NM_000263.4(NAGLU):c.383+7C>T rs768602711
NM_000263.4(NAGLU):c.384-10C>T
NM_000263.4(NAGLU):c.384-5C>T
NM_000263.4(NAGLU):c.384-8G>A
NM_000263.4(NAGLU):c.417C>T (p.Ser139=)
NM_000263.4(NAGLU):c.459G>A (p.Glu153=)
NM_000263.4(NAGLU):c.474G>T (p.Ala158=)
NM_000263.4(NAGLU):c.48C>T (p.Ala16=) rs1312488945
NM_000263.4(NAGLU):c.510C>T (p.Gly170=) rs375661192
NM_000263.4(NAGLU):c.531+46_531+75del rs1555621618
NM_000263.4(NAGLU):c.543C>T (p.Ala181=)
NM_000263.4(NAGLU):c.627C>G (p.Thr209=)
NM_000263.4(NAGLU):c.648C>G (p.Pro216=)
NM_000263.4(NAGLU):c.675G>T (p.Leu225=) rs115680529
NM_000263.4(NAGLU):c.679-5T>C
NM_000263.4(NAGLU):c.69C>G (p.Gly23=)
NM_000263.4(NAGLU):c.702C>T (p.Arg234=)
NM_000263.4(NAGLU):c.708C>T (p.Phe236=) rs770221835
NM_000263.4(NAGLU):c.720A>C (p.Pro240=)
NM_000263.4(NAGLU):c.723G>A (p.Val241=) rs140945842
NM_000263.4(NAGLU):c.729T>G (p.Pro243=)
NM_000263.4(NAGLU):c.732A>C (p.Ala244=)
NM_000263.4(NAGLU):c.732A>G (p.Ala244=)
NM_000263.4(NAGLU):c.735C>T (p.Phe245=)
NM_000263.4(NAGLU):c.750C>G (p.Pro250=)
NM_000263.4(NAGLU):c.750C>T (p.Pro250=)
NM_000263.4(NAGLU):c.764+10C>T rs372400832
NM_000263.4(NAGLU):c.771C>T (p.Phe257=) rs1599258298
NM_000263.4(NAGLU):c.777G>A (p.Gln259=)
NM_000263.4(NAGLU):c.780C>T (p.Val260=) rs1411789843
NM_000263.4(NAGLU):c.783T>C (p.Asn261=)
NM_000263.4(NAGLU):c.786C>T (p.Val262=) rs1599258325
NM_000263.4(NAGLU):c.789G>A (p.Thr263=)
NM_000263.4(NAGLU):c.78C>G (p.Ala26=)
NM_000263.4(NAGLU):c.801T>C (p.Ser267=)
NM_000263.4(NAGLU):c.813T>C (p.Phe271=)
NM_000263.4(NAGLU):c.81G>C (p.Arg27=) rs1021204618
NM_000263.4(NAGLU):c.831C>T (p.Cys277=)
NM_000263.4(NAGLU):c.871A>C (p.Ile291Leu) rs199625480
NM_000263.4(NAGLU):c.873C>T (p.Ile291=) rs146734024
NM_000263.4(NAGLU):c.894G>A (p.Glu298=)
NM_000263.4(NAGLU):c.897G>T (p.Leu299=)
NM_000263.4(NAGLU):c.909T>C (p.Phe303=)
NM_000263.4(NAGLU):c.927T>C (p.Tyr309=) rs1599258507
NM_000263.4(NAGLU):c.933C>T (p.Ala311=)
NM_000263.4(NAGLU):c.957A>T (p.Pro319=)
NM_000263.4(NAGLU):c.969G>A (p.Glu323=) rs1474272372
NM_000263.4(NAGLU):c.984C>T (p.Ala328=)
NM_000263.4(NAGLU):c.996T>C (p.Thr332=) rs764483473
NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3]) rs1024697806

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