ClinVar Miner

List of variants reported as likely pathogenic for GM1 gangliosidosis type 2; Gangliosidosis GM1 type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP
NM_000404.2(GLB1):c.245C>T rs72555393
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn) rs749980306
NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn) rs749980306
NM_000404.4(GLB1):c.1144-2A>G rs1553607014
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs) rs398123348
NM_000404.4(GLB1):c.1233+1G>A rs1553606984
NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn) rs780724173
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) rs564428355
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val) rs757926581
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs) rs398123349
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) rs72555358
NM_000404.4(GLB1):c.1479+1G>A rs1022476871
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) rs72555368
NM_000404.4(GLB1):c.1500_1503del (p.Leu501fs) rs1553606130
NM_000404.4(GLB1):c.1510_1511insGA (p.Asn504fs) rs1553606128
NM_000404.4(GLB1):c.1609G>T (p.Glu537Ter) rs1553606091
NM_000404.4(GLB1):c.1634dup (p.Asn545fs) rs754131566
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu) rs776327443
NM_000404.4(GLB1):c.1714C>T (p.Gln572Ter) rs1803200
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter) rs398123350
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) rs371582179
NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter) rs778375259
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) rs756878418
NM_000404.4(GLB1):c.245+1G>A rs778423653
NM_000404.4(GLB1):c.245+1G>C rs778423653
NM_000404.4(GLB1):c.302del (p.Asp101fs) rs1553612213
NM_000404.4(GLB1):c.397-1G>A rs398123353
NM_000404.4(GLB1):c.425_426del (p.Lys142fs) rs1553612150
NM_000404.4(GLB1):c.433_437del (p.Ile145fs) rs1553612145
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser) rs192732174
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys) rs192732174
NM_000404.4(GLB1):c.443G>A (p.Arg148His) rs745864233
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg) rs376710410
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly) rs398123355
NM_000404.4(GLB1):c.523C>T (p.Gln175Ter) rs1553611789
NM_000404.4(GLB1):c.552+2T>C rs1553611778
NM_000404.4(GLB1):c.602G>A (p.Arg201His) rs189115557
NM_000404.4(GLB1):c.626del (p.His209fs) rs1553611044
NM_000404.4(GLB1):c.645_648del (p.Val216fs) rs1553611040
NM_000404.4(GLB1):c.65_75+1del rs1382394474
NM_000404.4(GLB1):c.694dup (p.Ala232fs) rs1553611025
NM_000404.4(GLB1):c.733+1G>A rs1041204916
NM_000404.4(GLB1):c.733+2_733+4del rs1553611016
NM_000404.4(GLB1):c.765G>C (p.Gln255His) rs1553610553
NM_000404.4(GLB1):c.769_792+13del rs1282958432
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) rs376663785
NM_000404.4(GLB1):c.841C>T (p.His281Tyr) rs745386663
NM_000404.4(GLB1):c.902C>T (p.Ala301Val) rs750531880
NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys) rs72555361

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.