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Links from MedGen

Items: 1 to 100 of 179

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr3:33099752
GRCh38:
Chr3:33058260
GLB1E158*, E188*, E236*Infantile GM1 gangliosidosisPathogenic
(Jun 24, 2023)		criteria provided, single submitter
2.
GRCh37:
Chr3:33114151
GRCh38:
Chr3:33072659
GLB1D14Y, D44Y, D92YInfantile GM1 gangliosidosisLikely pathogenic
(May 7, 2021)		criteria provided, single submitter
3.
GRCh37:
Chr3:33138575
GRCh38:
Chr3:33097083
TMPPE, GLB1M1IInfantile GM1 gangliosidosisLikely pathogeniccriteria provided, single submitter
4.
GRCh37:
Chr3:33058259
GRCh38:
Chr3:33016767
GLB1D343G, D444G, D474G, D522GInfantile GM1 gangliosidosisUncertain significancecriteria provided, single submitter
5.
GRCh37:
Chr3:33138499-33138500
GRCh38:
Chr3:33097007-33097008
GLB1, TMPPEInfantile GM1 gangliosidosisUncertain significance
(Dec 24, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr3:33065764
GRCh38:
Chr3:33024272
GLB1Y374*, Y422*, Y243*, Y344*Infantile GM1 gangliosidosisPathogenic
(Dec 24, 2022)		criteria provided, single submitter
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
GRCh37:
Chr3:33099745
GRCh38:
Chr3:33058253
GLB1G160V, G190V, G238VInfantile GM1 gangliosidosisLikely pathogenic
(Aug 8, 2022)		criteria provided, single submitter
15.
GRCh37:
Chr3:33038560-33038561
GRCh38:
Chr3:32997068-32997069
GLB1D540fs, D641fs, D671fs, D719fsInfantile GM1 gangliosidosisUncertain significance
(Jun 24, 2022)		criteria provided, single submitter
16.
GRCh37:
Chr3:33099763
GRCh38:
Chr3:33058271
GLB1Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis, Infantile GM1 gangliosidosis
Pathogenic/Likely pathogenic
(Sep 15, 2022)		criteria provided, multiple submitters, no conflicts
17.
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
18.
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
19.
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
20.
GRCh37:
Chr3:33099745
GRCh38:
Chr3:33058253
GLB1G238D, G160D, G190DGM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B, Infantile GM1 gangliosidosis
Pathogenic/Likely pathogenic
(Oct 7, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr3:33065787
GRCh38:
Chr3:33024295
GLB1P236S, P337S, P367S, P415SInfantile GM1 gangliosidosisUncertain significancecriteria provided, single submitter
22.
GRCh37:
Chr3:33138498-33138499
GRCh38:
Chr3:33097006-33097007
GLB1, TMPPEInfantile GM1 gangliosidosisPathogeniccriteria provided, single submitter
23.
GRCh37:
Chr3:33110465-33110479
GRCh38:
Chr3:33068973-33068987
GLB1Infantile GM1 gangliosidosisLikely pathogeniccriteria provided, single submitter
24.
GRCh37:
Chr3:33110442
GRCh38:
Chr3:33068950
GLB1H137L, H59L, H89LInfantile GM1 gangliosidosisPathogeniccriteria provided, single submitter
25.
GRCh37:
Chr3:33109751-33109754
GRCh38:
Chr3:33068259-33068262
GLB1K112fs, K142fs, K190fsGM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B, Infantile GM1 gangliosidosis
Pathogenic
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr3:33093481
GRCh38:
Chr3:33051989
GLB1Y139H, Y240H, Y270H, Y318HInfantile GM1 gangliosidosisnot providedno assertion provided
27.
GRCh37:
Chr3:33058214-33058215
GRCh38:
Chr3:33016722-33016723
GLB1I358fs, I459fs, I489fs, I537fsInfantile GM1 gangliosidosisLikely pathogenic
(Jan 11, 2021)		criteria provided, single submitter
28.
GRCh37:
Chr3:33109728
GRCh38:
Chr3:33068236
GLB1D151Y, D121Y, D199YInfantile GM1 gangliosidosisPathogenic
(Oct 14, 2021)		no assertion criteria provided
29.
GRCh37:
Chr3:33087670
GRCh38:
Chr3:33046178
GLB1L206P, L307P, L337P, L385PGM1 gangliosidosis, GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B,
Infantile GM1 gangliosidosis		Pathogenic/Likely pathogenic
(Jul 27, 2023)		criteria provided, multiple submitters, no conflicts
30.
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
31.
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
32.
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
33.
GRCh37:
Chr3:33118631
GRCh38:
Chr3:33077139
GLB1Mucopolysaccharidosis, MPS-IV-B, Infantile GM1 gangliosidosis, not provided
Benign
(Jun 15, 2021)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr3:33099503
GRCh38:
Chr3:33058011
GLB1Mucopolysaccharidosis, MPS-IV-B, Infantile GM1 gangliosidosis, not provided
Benign/Likely benign
(Jun 15, 2021)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr3:33095153
GRCh38:
Chr3:33053661
GLB1Mucopolysaccharidosis, MPS-IV-B, Infantile GM1 gangliosidosis, not provided
Benign
(Jun 15, 2021)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr3:33095140
GRCh38:
Chr3:33053648
GLB1not provided, Mucopolysaccharidosis, MPS-IV-B, Infantile GM1 gangliosidosis
Benign
(Jun 15, 2021)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr3:33095121
GRCh38:
Chr3:33053629
GLB1not provided, Mucopolysaccharidosis, MPS-IV-B, Infantile GM1 gangliosidosis
Benign/Likely benign
(Jun 15, 2021)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr3:33062967
GRCh38:
Chr3:33021475
GLB1Mucopolysaccharidosis, MPS-IV-B, Infantile GM1 gangliosidosisLikely benign
(Jun 15, 2021)		criteria provided, single submitter
39.
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
40.
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
41.
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
42.
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
43.
GRCh37:
Chr3:33114132
GRCh38:
Chr3:33072640
GLB1Y50C, Y98C, Y20CMucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosisPathogenic
(Aug 28, 2021)		criteria provided, single submitter
44.
GRCh37:
Chr3:33109763
GRCh38:
Chr3:33068271
GLB1L109Q, L139Q, L187QInfantile GM1 gangliosidosisLikely pathogenic
(Jul 5, 2019)		criteria provided, single submitter
45.
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
46.
GRCh37:
Chr3:33059969
GRCh38:
Chr3:33018477
GLB1H410Y, H488Y, H440Y, H309YInfantile GM1 gangliosidosisPathogenic
(Aug 15, 2019)		no assertion criteria provided
47.
GRCh37:
Chr3:33109772
GRCh38:
Chr3:33068280
GLB1P184L, P136L, P106LInfantile GM1 gangliosidosisLikely pathogenic
(Jan 13, 2020)		criteria provided, single submitter
48.
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
49.
GRCh37:
Chr3:33093255
GRCh38:
Chr3:33051763
GLB1W287*, W186*, W317*, W365*Infantile GM1 gangliosidosisLikely pathogenic
(Sep 26, 2019)		no assertion criteria provided
50.
GRCh37:
Chr3:33110323
GRCh38:
Chr3:33068831
GLB1E129Q, E177Q, E99QInfantile GM1 gangliosidosisLikely pathogenic
(Oct 21, 2019)		criteria provided, single submitter
51.
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
52.
GRCh37:
Chr3:33106962
GRCh38:
Chr3:33065470
GLB1N111K, T152R, T182R, T230RInfantile GM1 gangliosidosisUncertain significance
(Jun 21, 2019)		criteria provided, single submitter
53.
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
54.
GRCh37:
Chr3:33093190
GRCh38:
Chr3:33051698
GLB1Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B, not provided
Benign
(Jun 15, 2021)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr3:33093471-33093472
GRCh38:
Chr3:33051979-33051980
GLB1W273L, W142L, W243L, W321LMucopolysaccharidosis, MPS-IV-B, not provided, Mucopolysaccharidosis, MPS-IV-B,
GM1 gangliosidosis		Pathogenic/Likely pathogenic
(Sep 2, 2022)		criteria provided, multiple submitters, no conflicts
56.
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
57.
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
58.
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
59.
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
60.
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
61.
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
62.
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
63.
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
64.
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
65.
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
66.
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
67.
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
68.
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
69.
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
70.
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
71.
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
72.
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
73.
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
74.
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
75.
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
76.
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
77.
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
78.
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
79.
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
80.
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
81.
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
82.
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
83.
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
84.
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
85.
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
86.
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
87.
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
88.
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
89.
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
90.
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
91.
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
92.
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
93.
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
94.
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
95.
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
96.
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
97.
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
98.
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
99.
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
100.
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
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