ClinVar Miner

List of variants in gene GALNS reported as pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 66
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HGVS dbSNP
GALNS, 1-BP DEL, 1374T
GALNS, 2-BP DEL, 1343CA
NC_000016.10:g.(?_88822569)_(88842849_?)del
NC_000016.10:g.(?_88826682)_(88826858_?)del
NC_000016.10:g.(?_88837602)_(88842849_?)del
NC_000016.10:g.(?_88840972)_(88842849_?)del
NM_000512.4(GALNS):c.413T>C (p.Val138Ala) rs118204436
NM_000512.5(GALNS):c.1000C>T (p.Gln334Ter) rs1567526805
NM_000512.5(GALNS):c.1012C>T (p.Gln338Ter)
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp) rs267606838
NM_000512.5(GALNS):c.1139+1G>A
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437
NM_000512.5(GALNS):c.1164C>A (p.Asp388Glu) rs752339162
NM_000512.5(GALNS):c.1171A>G (p.Met391Val) rs398123429
NM_000512.5(GALNS):c.1192del (p.His398fs)
NM_000512.5(GALNS):c.121-2A>G rs1567538216
NM_000512.5(GALNS):c.1240C>T (p.Gln414Ter)
NM_000512.5(GALNS):c.1241dup (p.Ile416fs)
NM_000512.5(GALNS):c.1279del (p.Val427fs)
NM_000512.5(GALNS):c.1364+1G>A rs773746427
NM_000512.5(GALNS):c.1365-1G>C
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg) rs199638097
NM_000512.5(GALNS):c.1417C>T (p.Gln473Ter) rs118204439
NM_000512.5(GALNS):c.1429_1455del (p.Glu477_Gln485del)
NM_000512.5(GALNS):c.1460A>G (p.Asn487Ser) rs118204440
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000512.5(GALNS):c.1480A>G (p.Met494Val)
NM_000512.5(GALNS):c.155C>T (p.Pro52Leu)
NM_000512.5(GALNS):c.178G>A (p.Asp60Asn) rs118204447
NM_000512.5(GALNS):c.205T>G (p.Phe69Val) rs118204445
NM_000512.5(GALNS):c.228C>A (p.Asn76Lys)
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)
NM_000512.5(GALNS):c.239C>T (p.Ser80Leu) rs1209154325
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu) rs371429653
NM_000512.5(GALNS):c.268C>T (p.Arg90Trp) rs1028668536
NM_000512.5(GALNS):c.280C>G (p.Arg94Gly) rs118204441
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys) rs118204441
NM_000512.5(GALNS):c.331C>T (p.Gln111Ter) rs200374326
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe) rs118204438
NM_000512.5(GALNS):c.346G>A (p.Gly116Ser)
NM_000512.5(GALNS):c.405_422+1del rs398123437
NM_000512.5(GALNS):c.415G>A (p.Gly139Ser) rs146093755
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)
NM_000512.5(GALNS):c.477G>A (p.Trp159Ter) rs398123439
NM_000512.5(GALNS):c.485C>T (p.Ser162Phe) rs118204444
NM_000512.5(GALNS):c.489del (p.Asn164fs) rs1328983959
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr) rs761725425
NM_000512.5(GALNS):c.498C>G (p.His166Gln)
NM_000512.5(GALNS):c.498del (p.Phe167fs) rs772656696
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg) rs775732598
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys) rs786205899
NM_000512.5(GALNS):c.604del (p.Glu202fs)
NM_000512.5(GALNS):c.612C>G (p.Asn204Lys) rs118204435
NM_000512.5(GALNS):c.689G>A (p.Trp230Ter) rs118204449
NM_000512.5(GALNS):c.711_714dup (p.Val239fs)
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter)
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln) rs118204442
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr) rs118204448
NM_000512.5(GALNS):c.898+1G>A rs761850746
NM_000512.5(GALNS):c.898+1G>C rs761850746
NM_000512.5(GALNS):c.899-2A>C
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys) rs118204443
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser) rs118204446
NM_000512.5(GALNS):c.952A>G (p.Met318Val) rs537013895
NM_000512.5(GALNS):c.953T>G (p.Met318Arg) rs746756997

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