ClinVar Miner

List of variants in gene NAGLU reported as likely pathogenic by Counsyl

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Total variants: 44
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HGVS dbSNP
NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter) rs376090795
NM_000263.4(NAGLU):c.1063del (p.Gln355fs) rs1180591588
NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter) rs1555622242
NM_000263.4(NAGLU):c.1112del (p.Gly371fs) rs1555622250
NM_000263.4(NAGLU):c.1200del (p.Gln400fs) rs1485628563
NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter) rs138387856
NM_000263.4(NAGLU):c.13_16del (p.Ala5fs) rs1555621402
NM_000263.4(NAGLU):c.1421G>A (p.Trp474Ter) rs1555622351
NM_000263.4(NAGLU):c.1425del (p.Thr476fs) rs1250949842
NM_000263.4(NAGLU):c.1438_1447del (p.Ala480fs) rs1555622354
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs) rs778021009
NM_000263.4(NAGLU):c.1463dup (p.Asp489fs) rs1396150639
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp) rs992677795
NM_000263.4(NAGLU):c.1674C>G (p.Tyr558Ter) rs762031686
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598
NM_000263.4(NAGLU):c.1705C>T (p.Gln569Ter) rs1555622441
NM_000263.4(NAGLU):c.1708G>T (p.Glu570Ter) rs1555622443
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu) rs751203469
NM_000263.4(NAGLU):c.1863G>A (p.Trp621Ter) rs1555622488
NM_000263.4(NAGLU):c.1893_1903del (p.Glu632fs) rs1555622505
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter) rs555145190
NM_000263.4(NAGLU):c.1932C>G (p.Tyr644Ter) rs1555622533
NM_000263.4(NAGLU):c.193del (p.Tyr65fs) rs1555621432
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu) rs527236037
NM_000263.4(NAGLU):c.1995del (p.Leu666fs) rs1555622545
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys) rs763299645
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590
NM_000263.4(NAGLU):c.2053_2054del (p.Ser685fs) rs1555622559
NM_000263.4(NAGLU):c.2062C>T (p.Gln688Ter) rs1195831432
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter) rs752527478
NM_000263.4(NAGLU):c.219_237del (p.Arg74fs) rs1431589133
NM_000263.4(NAGLU):c.220dup (p.Arg74fs) rs1555621448
NM_000263.4(NAGLU):c.2T>C (p.Met1Thr) rs1013345784
NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser) rs758785463
NM_000263.4(NAGLU):c.383+1G>T rs727504028
NM_000263.4(NAGLU):c.384-1G>A rs764134891
NM_000263.4(NAGLU):c.4G>T (p.Glu2Ter) rs1555621397
NM_000263.4(NAGLU):c.798_805del (p.Ser267fs) rs1555622000
NM_000263.4(NAGLU):c.809del (p.His270fs) rs1555622002
NM_000263.4(NAGLU):c.82del (p.Glu28fs) rs1430122594
NM_000263.4(NAGLU):c.834_837CTTC[1] (p.Leu280fs) rs756865833
NM_000263.4(NAGLU):c.867del (p.Ile290fs) rs1555622019
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) rs1358994052

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