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Links from MedGen

Items: 1 to 100 of 134

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr3:33099601
GRCh38:
Chr3:33058109
GLB1T208I, T238I, T286IGM1 gangliosidosis type 2Uncertain significancecriteria provided, single submitter
2.
GRCh37:
Chr3:33087656-33087657
GRCh38:
Chr3:33046164-33046165
GLB1D211fs, D312fs, D342fs, D390fsGM1 gangliosidosis type 3, GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis
Likely pathogenic
(Dec 31, 2021)		criteria provided, single submitter
3.
GRCh37:
Chr3:33058300-33058301
GRCh38:
Chr3:33016808-33016809
GLB1V329fs, V430fs, V460fs, V508fsGM1 gangliosidosis type 3, GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis
Likely pathogenic
(Dec 16, 2021)		criteria provided, single submitter
4.
GRCh37:
Chr3:33114050-33114051
GRCh38:
Chr3:33072558-33072559
GLB1L125fs, L47fs, L77fsGM1 gangliosidosis type 3, GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis
Likely pathogenic
(Mar 31, 2022)		criteria provided, single submitter
5.
GRCh37:
Chr3:33107019-33107020
GRCh38:
Chr3:33065527-33065528
GLB1G133fs, G163fs, G211fs, G92fsGM1 gangliosidosis type 3, GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis
Likely pathogenic
(Mar 30, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr3:33107006-33107007
GRCh38:
Chr3:33065514-33065515
GLB1P137fs, P167fs, P215fs, Q97fsGM1 gangliosidosis type 3, GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis
Likely pathogenic
(Mar 15, 2022)		criteria provided, single submitter
7.
GRCh37:
Chr3:33065764
GRCh38:
Chr3:33024272
GLB1Y243*, Y344*, Y374*, Y422*GM1 gangliosidosis type 3, GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis
Likely pathogenic
(Feb 28, 2022)		criteria provided, single submitter
8.
GRCh37:
Chr3:33093454
GRCh38:
Chr3:33051962
GLB1Q148fs, Q249fs, Q279fs, Q327fsGM1 gangliosidosis type 3, GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis
Likely pathogenic
(Nov 11, 2021)		criteria provided, single submitter
9.
GRCh37:
Chr3:33060031
GRCh38:
Chr3:33018539
GLB1R419Q, R389Q, R288Q, R467QGM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B, Infantile GM1 gangliosidosis,
GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3
Conflicting interpretations of pathogenicity
(Oct 28, 2022)		criteria provided, conflicting interpretations
10.
GRCh37:
Chr3:33065744
GRCh38:
Chr3:33024252
GLB1K351fs, K381fs, K250fs, K429fsMucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis, GM1 gangliosidosis type 3,
GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis		Pathogenic/Likely pathogenic
(Dec 22, 2021)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr3:33099722-33099723
GRCh38:
Chr3:33058230-33058231
GLB1D168*, D246*, D198*Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis, Infantile GM1 gangliosidosis,
GM1 gangliosidosis type 3, GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B,
Infantile GM1 gangliosidosis		Pathogenic
(Oct 1, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr3:33038787
GRCh38:
Chr3:32997295
GLB1R464Q, R565Q, R595Q, R643QGM1 gangliosidosis type 2, GM1 gangliosidosis type 3, Infantile GM1 gangliosidosis,
Inborn genetic diseases, GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B,
Mucopolysaccharidosis, MPS-IV-B		Uncertain significance
(Mar 28, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr3:33093468
GRCh38:
Chr3:33051976
GLB1L143P, L244P, L274P, L322PGM1 gangliosidosis type 2, GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B,
Infantile GM1 gangliosidosis		Uncertain significance
(Jul 22, 2021)		criteria provided, single submitter
14.
GRCh37:
Chr3:33055624
GRCh38:
Chr3:33014132
GLB1M422T, M523T, M553T, M601TGM1 gangliosidosis type 2, GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B,
Infantile GM1 gangliosidosis		Uncertain significance
(Jul 14, 2021)		criteria provided, single submitter
15.
GRCh37:
Chr3:33095000
GRCh38:
Chr3:33053508
GLB1E128*, E229*, E259*, E307*GM1 gangliosidosis type 3, GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis
Likely pathogenic
(Jan 1, 2020)		criteria provided, single submitter
16.
GRCh37:
Chr3:33093470
GRCh38:
Chr3:33051978
GLB1W142*, W243*, W273*, W321*GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis		Pathogenic/Likely pathogenic
(Sep 22, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr3:33093287
GRCh38:
Chr3:33051795
GLB1Y175*, Y276*, Y306*, Y354*GM1 gangliosidosis type 3, GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis
Likely pathogenic
(Dec 21, 2019)		criteria provided, single submitter
18.
GRCh37:
Chr3:33059975
GRCh38:
Chr3:33018483
GLB1G307*, G408*, G438*, G486*GM1 gangliosidosis type 3, GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis
Likely pathogenic
(Mar 8, 2019)		criteria provided, single submitter
19.
GRCh37:
Chr3:33059988-33059989
GRCh38:
Chr3:33018496-33018497
GLB1S302fs, S481fs, S433fs, S403fsGM1 gangliosidosis type 2, Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3,
Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis		Pathogenic/Likely pathogenic
(Apr 1, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr3:33099598
GRCh38:
Chr3:33058106
GLB1T239M, T287M, T209MMucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis, not provided,
GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, Infantile GM1 gangliosidosis
Pathogenic/Likely pathogenic
(Mar 28, 2023)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr3:33038555
GRCh38:
Chr3:32997063
GLB1GM1 gangliosidosis, Infantile GM1 gangliosidosis, GM1 gangliosidosis,
Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 2, GM1 gangliosidosis type 3,
Mucopolysaccharidosis, MPS-IV-B		Conflicting interpretations of pathogenicity
(Oct 20, 2022)		criteria provided, conflicting interpretations
22.
GRCh37:
Chr3:33110455
GRCh38:
Chr3:33068963
GLB1P55T, P85T, P133TGM1 gangliosidosis type 2Uncertain significance
(May 7, 2019)		criteria provided, single submitter
23.
GRCh37:
Chr3:33107010-33107012
GRCh38:
Chr3:33065518-33065520
GLB1L136del, L166del, L214del, S95delGM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis
Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
24.
GRCh37:
Chr3:33099691
GRCh38:
Chr3:33058199
GLB1R208H, R256H, R178HGM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis,
Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 2, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Conflicting interpretations of pathogenicity
(Nov 2, 2022)		criteria provided, conflicting interpretations
25.
GRCh37:
Chr3:33109753-33109754
GRCh38:
Chr3:33068261-33068262
GLB1K142fs, K112fs, K190fsGM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Likely pathogenic
(Jun 6, 2018)		criteria provided, single submitter
26.
GRCh37:
Chr3:33038539
GRCh38:
Chr3:32997047
GLB1GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Uncertain significance
(Jun 6, 2018)		criteria provided, single submitter
27.
GRCh37:
Chr3:33114093
GRCh38:
Chr3:33072601
GLB1F63Y, F33Y, F111YGM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Uncertain significance
(May 30, 2018)		criteria provided, single submitter
28.
GRCh37:
Chr3:33058209
GRCh38:
Chr3:33016717
GLB1D491N, D360N, D539N, D461NMucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B,
GM1 gangliosidosis type 3, Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B,
GM1 gangliosidosis		Uncertain significance
(Apr 14, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr3:33087642
GRCh38:
Chr3:33046150
GLB1K346N, K394N, K215N, K316NGM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis,
GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Pathogenic/Likely pathogenic
(Jun 7, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr3:33099577-33099579
GRCh38:
Chr3:33058085-33058087
GLB1GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Likely pathogenic
(Apr 13, 2018)		criteria provided, single submitter
31.
GRCh37:
Chr3:33038825
GRCh38:
Chr3:32997333
GLB1W582*, W630*, W451*, W552*Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis, not provided,
GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Pathogenic/Likely pathogenic
(Dec 21, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr3:33058200
GRCh38:
Chr3:33016708
GLB1not provided, GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B,
GM1 gangliosidosis type 3, Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B,
GM1 gangliosidosis		Pathogenic/Likely pathogenic
(Dec 7, 2021)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr3:33099688
GRCh38:
Chr3:33058196
GLB1H209fs, H257fs, H179fsGM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Likely pathogenic
(Apr 5, 2018)		criteria provided, single submitter
34.
GRCh37:
Chr3:33110406
GRCh38:
Chr3:33068914
GLB1D149fs, D101fs, D71fsGM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Likely pathogenic
(Mar 29, 2018)		criteria provided, single submitter
35.
GRCh37:
Chr3:33038537
GRCh38:
Chr3:32997045
GLB1GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Uncertain significance
(Mar 28, 2018)		criteria provided, single submitter
36.
GRCh37:
Chr3:33063149
GRCh38:
Chr3:33021657
GLB1GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis
Pathogenic/Likely pathogenic
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr3:33038560
GRCh38:
Chr3:32997068
GLB1D641fs, D671fs, D540fs, D719fsGM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Uncertain significance
(Mar 12, 2018)		criteria provided, single submitter
38.
GRCh37:
Chr3:33093443
GRCh38:
Chr3:33051951
GLB1T152fs, T331fs, T253fs, T283fsGM1 gangliosidosis, GM1 gangliosidosis type 2, GM1 gangliosidosis type 2,
Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3, Infantile GM1 gangliosidosis
Pathogenic
(Apr 8, 2020)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr3:33110313
GRCh38:
Chr3:33068821
GLB1M132T, M102T, M180TMucopolysaccharidosis, MPS-IV-B, Infantile GM1 gangliosidosis, GM1 gangliosidosis type 2,
Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3, Infantile GM1 gangliosidosis
Conflicting interpretations of pathogenicity
(May 4, 2022)		criteria provided, conflicting interpretations
40.
GRCh37:
Chr3:33087709
GRCh38:
Chr3:33046217
GLB1Y324C, Y372C, Y294C, Y193CGM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Uncertain significance
(Feb 13, 2018)		criteria provided, single submitter
41.
GRCh37:
Chr3:33094970-33095006
GRCh38:
Chr3:33053478-33053514
GLB1GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis
Pathogenic/Likely pathogenic
(Aug 8, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr3:33107006
GRCh38:
Chr3:33065514
GLB1Q97*GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Uncertain significance
(Feb 2, 2018)		criteria provided, single submitter
43.
GRCh37:
Chr3:33063057
GRCh38:
Chr3:33021565
GLB1GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis
Pathogenic/Likely pathogenic
(Nov 27, 2021)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr3:33055568
GRCh38:
Chr3:33014076
GLB1Q572*, Q441*, Q542*, Q620*GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis
Pathogenic/Likely pathogenic
(Aug 20, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr3:33109778
GRCh38:
Chr3:33068286
GLB1G134V, G182V, G104VGM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis
Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
46.
GRCh37:
Chr3:33038593
GRCh38:
Chr3:32997101
GLB1R660*, R630*, R529*, R708*GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Uncertain significance
(Dec 28, 2017)		criteria provided, single submitter
47.
GRCh37:
Chr3:33058226
GRCh38:
Chr3:33016734
GLB1Y485C, Y533C, Y354C, Y455CGM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis
Conflicting interpretations of pathogenicity
(Oct 7, 2021)		criteria provided, conflicting interpretations
48.
GRCh37:
Chr3:33138502-33138513
GRCh38:
Chr3:33097010-33097021
GLB1, TMPPEGM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis, not provided, Mucopolysaccharidosis, MPS-IV-B,
GM1 gangliosidosis, Infantile GM1 gangliosidosis		Pathogenic/Likely pathogenic
(Sep 13, 2021)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr3:33110460
GRCh38:
Chr3:33068968
GLB1Y83C, Y53C, Y131CGM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Uncertain significance
(Nov 30, 2017)		criteria provided, single submitter
50.
GRCh37:
Chr3:33055771-33055772
GRCh38:
Chr3:33014279-33014280
GLB1N474fs, N373fs, N504fs, N552fsGM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis
Pathogenic/Likely pathogenic
(Dec 23, 2021)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr3:33110373
GRCh38:
Chr3:33068881
GLB1H112P, H82P, H160PGM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis
Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
52.
GRCh37:
Chr3:33093492
GRCh38:
Chr3:33052000
GLB1N266S, N135S, N236S, N314SGM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Uncertain significance
(Dec 5, 2017)		criteria provided, single submitter
53.
GRCh37:
Chr3:33095010
GRCh38:
Chr3:33053518
GLB1Q255H, Q303H, Q124H, Q225HGM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Likely pathogenic
(Nov 17, 2017)		criteria provided, single submitter
54.
GRCh37:
Chr3:33114035
GRCh38:
Chr3:33072543
GLB1GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis
Pathogenic/Likely pathogenic
(Dec 25, 2021)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr3:33114129
GRCh38:
Chr3:33072637
GLB1I51N, I99N, I21NGM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Uncertain significance
(Oct 25, 2017)		criteria provided, single submitter
56.
GRCh37:
Chr3:33099666-33099669
GRCh38:
Chr3:33058174-33058177
GLB1V186fs, V216fs, V264fsGM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Likely pathogenic
(Oct 13, 2017)		criteria provided, single submitter
57.
GRCh37:
Chr3:33059977
GRCh38:
Chr3:33018485
GLB1N437S, N306S, N407S, N485SMucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B,
GM1 gangliosidosis, GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B,
GM1 gangliosidosis type 3, Infantile GM1 gangliosidosis, not specified
Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
58.
GRCh37:
Chr3:33106953
GRCh38:
Chr3:33065461
GLB1Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis, GM1 gangliosidosis type 2,
Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3, Infantile GM1 gangliosidosis
Likely pathogenic
(Jul 22, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr3:33058242
GRCh38:
Chr3:33016750
GLB1M480V, M349V, M528V, M450Vnot provided, GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B,
GM1 gangliosidosis type 3, Infantile GM1 gangliosidosis		Conflicting interpretations of pathogenicity
(Jan 3, 2023)		criteria provided, conflicting interpretations
60.
GRCh37:
Chr3:33058228
GRCh38:
Chr3:33016736
GLB1N484K, N454K, N353K, N532KMucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis, GM1 gangliosidosis type 2,
Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3, Infantile GM1 gangliosidosis
Conflicting interpretations of pathogenicity
(Jun 27, 2022)		criteria provided, conflicting interpretations
61.
GRCh37:
Chr3:33109733
GRCh38:
Chr3:33068241
GLB1S149F, S119F, S197FGM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis,
GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Conflicting interpretations of pathogenicity
(May 1, 2022)		criteria provided, conflicting interpretations
62.
GRCh37:
Chr3:33099580
GRCh38:
Chr3:33058088
GLB1Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis, GM1 gangliosidosis type 2,
Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3, Infantile GM1 gangliosidosis,
not provided		Pathogenic/Likely pathogenic
(Dec 29, 2021)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr3:33055779-33055782
GRCh38:
Chr3:33014287-33014290
GLB1L471fs, L549fs, L370fs, L501fsGM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Likely pathogenic
(Jul 14, 2017)		criteria provided, single submitter
64.
GRCh37:
Chr3:33099619-33099620
GRCh38:
Chr3:33058127-33058128
GLB1A280fs, A202fs, A232fsMucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis, GM1 gangliosidosis type 2,
Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3, Infantile GM1 gangliosidosis
Pathogenic/Likely pathogenic
(Oct 8, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr3:33055673
GRCh38:
Chr3:33014181
GLB1E537*, E406*, E507*, E585*GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Likely pathogenic
(Jun 16, 2017)		criteria provided, single submitter
66.
GRCh37:
Chr3:33109737
GRCh38:
Chr3:33068245
GLB1R148S, R118S, R196SMucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B,
GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis, not provided		Pathogenic/Likely pathogenic
(Oct 21, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr3:33059966
GRCh38:
Chr3:33018474
GLB1D441N, D310N, D489N, D411NGM1 gangliosidosis type 3, Infantile GM1 gangliosidosis, GM1 gangliosidosis type 2,
Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B
Pathogenic/Likely pathogenic
(Mar 18, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr3:33038803
GRCh38:
Chr3:32997311
GLB1R590S, R459S, R560S, R638SMucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis, GM1 gangliosidosis type 2,
Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3, Infantile GM1 gangliosidosis
Conflicting interpretations of pathogenicity
(Jun 10, 2022)		criteria provided, conflicting interpretations
69.
GRCh37:
Chr3:33114188
GRCh38:
Chr3:33072696
GLB1M31I, M1I, M79IMucopolysaccharidosis, MPS-IV-B, Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3,
GM1 gangliosidosis type 2		Uncertain significance
(Mar 28, 2017)		criteria provided, single submitter
70.
GRCh37:
Chr3:33106984
GRCh38:
Chr3:33065492
GLB1S104L, Q175*, Q223*, Q145*GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Likely pathogenic
(Apr 3, 2017)		criteria provided, single submitter
71.
GRCh37:
Chr3:33038561-33038564
GRCh38:
Chr3:32997069-32997072
GLB1N538fs, N639fs, N717fs, N669fsGM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Uncertain significance
(Mar 20, 2017)		criteria provided, single submitter
72.
GRCh37:
Chr3:33038580
GRCh38:
Chr3:32997088
GLB1P664fs, P634fs, P533fs, P712fsGM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Uncertain significance
(Mar 14, 2017)		criteria provided, single submitter
73.
GRCh37:
Chr3:33087642
GRCh38:
Chr3:33046150
GLB1K346N, K215N, K316N, K394NMucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis, GM1 gangliosidosis type 2,
Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3, Infantile GM1 gangliosidosis
Pathogenic/Likely pathogenic
(Jun 13, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr3:33038569
GRCh38:
Chr3:32997077
GLB1K668*, K638*, K716*, K537*Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis, not provided,
GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Uncertain significance
(Jul 26, 2022)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr3:33109742-33109746
GRCh38:
Chr3:33068250-33068254
GLB1I115fs, I145fs, I193fsMucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis, GM1 gangliosidosis type 2,
Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3, Infantile GM1 gangliosidosis
Pathogenic/Likely pathogenic
(Dec 30, 2021)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr3:33055647-33055648
GRCh38:
Chr3:33014155-33014156
GLB1N593fs, N414fs, N515fs, N545fsMucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis, GM1 gangliosidosis type 2,
Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3, Infantile GM1 gangliosidosis
Pathogenic/Likely pathogenic
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr3:33038788
GRCh38:
Chr3:32997296
GLB1R595W, R464W, R565W, R643Wnot specified, GM1 gangliosidosis type 2, Inborn genetic diseases,
Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis, See cases,
GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Uncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr3:33055801
GRCh38:
Chr3:33014309
GLB1G494V, G542V, G363V, G464VGM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis		Uncertain significance
(May 19, 2017)		criteria provided, single submitter
79.
GRCh37:
Chr3:33099742
GRCh38:
Chr3:33058250
GLB1S191N, S239N, S161NMucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis, GM1 gangliosidosis type 2,
Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3, Infantile GM1 gangliosidosis
Conflicting interpretations of pathogenicity
(May 5, 2022)		criteria provided, conflicting interpretations
80.
GRCh37:
Chr3:33059962
GRCh38:
Chr3:33018470
GLB1R442Q, R311Q, R490Q, R412QGM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, Infantile GM1 gangliosidosis,
GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis,
not provided		Pathogenic/Likely pathogenic
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr3:33109736
GRCh38:
Chr3:33068244
GLB1R148H, R118H, R196HGM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis,
Mucopolysaccharidosis, MPS-IV-B		Pathogenic/Likely pathogenic
(Sep 29, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr3:33114135
GRCh38:
Chr3:33072643
GLB1R49H, R19H, R97HInborn genetic diseases, GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B,
GM1 gangliosidosis type 3, Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B,
GM1 gangliosidosis, not provided		Conflicting interpretations of pathogenicity
(Jun 29, 2023)		criteria provided, conflicting interpretations
83.
GRCh37:
Chr3:33114106
GRCh38:
Chr3:33072614
GLB1R59C, R29C, R107CInfantile GM1 gangliosidosis, GM1 gangliosidosis type 2, not provided,
GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 2,
Infantile GM1 gangliosidosis, GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B
Pathogenic/Likely pathogenic
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr3:33055694
GRCh38:
Chr3:33014202
GLB1R530C, R399C, R500C, R578CGM1 gangliosidosis type 2, GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B,
Infantile GM1 gangliosidosis, not provided, GM1 gangliosidosis,
Mucopolysaccharidosis, MPS-IV-B		Conflicting interpretations of pathogenicity
(Nov 3, 2022)		criteria provided, conflicting interpretations
85.
Infantile GM1 gangliosidosisLikely pathogenic
(May 11, 2016)		no assertion criteria provided
86.
Infantile GM1 gangliosidosisPathogenic
(Mar 12, 2013)		criteria provided, single submitter
87.
GRCh37:
Chr3:33114035
GRCh38:
Chr3:33072543
GLB1GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis,
Infantile GM1 gangliosidosis, GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B,
GM1 gangliosidosis type 3		Pathogenic
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr3:33059944
GRCh38:
Chr3:33018452
GLB1D448V, D418V, D496V, D317VGM1 gangliosidosis, GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B,
GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B		Conflicting interpretations of pathogenicity
(Jul 29, 2022)		criteria provided, conflicting interpretations
89.
GRCh37:
Chr3:33093481
GRCh38:
Chr3:33051989
GLB1Y270D, Y318D, Y139D, Y240DGM1 gangliosidosis type 3, GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B,
Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B, Inborn genetic diseases,
not provided, GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B
Pathogenic/Likely pathogenic
(Sep 29, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr3:33107043
GRCh38:
Chr3:33065551
GLB1L155R, L203R, L125RMucopolysaccharidosis, MPS-IV-B, Infantile GM1 gangliosidosis, GM1 gangliosidosis type 2,
GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis,
not provided		Pathogenic
(Feb 8, 2023)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr3:33110432
GRCh38:
Chr3:33068940
GLB1W92*, W62*, W140*GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis, GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B,
Infantile GM1 gangliosidosis, not provided		Pathogenic
(Jun 29, 2022)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr3:33093431
GRCh38:
Chr3:33051939
GLB1GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 2,
GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B, Infantile GM1 gangliosidosis,
not specified		Likely benign
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr3:33055549
GRCh38:
Chr3:33014057
GLB1K578R, K548R, K626R, K447RInborn genetic diseases, GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B,
Infantile GM1 gangliosidosis, GM1 gangliosidosis type 2, GM1 gangliosidosis type 3,
Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis, not provided,
GM1 gangliosidosis type 2		Pathogenic/Likely pathogenic
(Nov 2, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr3:33060002
GRCh38:
Chr3:33018510
GLB1P429S, P298S, P477S, P399SGM1 gangliosidosis type 3, Infantile GM1 gangliosidosis, GM1 gangliosidosis type 2,
Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B,
Infantile GM1 gangliosidosis		Conflicting interpretations of pathogenicity
(Oct 31, 2022)		criteria provided, conflicting interpretations
95.
GRCh37:
Chr3:33065789
Chr3:33060002
GRCh38:
Chr3:33024297
Chr3:33018510
GLB1, GLB1P366H, P336H, P235H, P414H, P429S, P298S, P477S, P399SMucopolysaccharidosis, MPS-IV-BUncertain significance
(May 13, 2016)		no assertion criteria provided
96.
GRCh37:
Chr3:33055704-33055705
GRCh38:
Chr3:33014212-33014213
GLB1W527fs, W575fs, W497fs, W396fsMucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis, GM1 gangliosidosis,
GLB1-Related Disorders, not provided, GM1 gangliosidosis type 2,
GM1 gangliosidosis type 3		Pathogenic
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr3:33099712
GRCh38:
Chr3:33058220
GLB1R201H, R171H, R249HMucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis, not provided,
GM1 gangliosidosis, GM1 gangliosidosis type 2, GM1 gangliosidosis type 3,
Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B, Infantile GM1 gangliosidosis,
GM1 gangliosidosis type 2		Pathogenic
(Mar 1, 2023)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr3:33114078
GRCh38:
Chr3:33072586
GLB1R68Q, R116Q, R38QGM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis,
Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis,
GM1 gangliosidosis type 3, not provided		Conflicting interpretations of pathogenicity
(Jun 14, 2022)		criteria provided, conflicting interpretations
99.
GRCh37:
Chr3:33055721
GRCh38:
Chr3:33014229
GLB1C521R, C390R, C491R, C569RMucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis, not specified,
not provided, GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B,
Infantile GM1 gangliosidosis, GM1 gangliosidosis type 2		Benign
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr3:33095049
GRCh38:
Chr3:33053557
GLB1not specified, not provided, Mucopolysaccharidosis, MPS-IV-B,
GM1 gangliosidosis type 3, Infantile GM1 gangliosidosis, GM1 gangliosidosis type 2
Uncertain significance
(Jun 29, 2023)		criteria provided, multiple submitters, no conflicts
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