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Links from MedGen

Items: 44

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr4:980906-980918
GRCh38:
Chr4:987118-987130
IDUA, SLC26A1A12fsMucopolysaccharidosis, MPS-I-SPathogenic
(Jun 24, 2023)		criteria provided, single submitter
2.
GRCh37:
Chr4:980962
GRCh38:
Chr4:987174
IDUA, SLC26A1H30QMucopolysaccharidosis type 1, Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S,
Mucopolysaccharidosis, MPS-I-S		Uncertain significance
(Aug 20, 2021)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr4:980984
GRCh38:
Chr4:987196
IDUA, SLC26A1R38CHurler syndrome, Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis, MPS-I-S,
Mucopolysaccharidosis type 1		Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr4:995477
GRCh38:
Chr4:1001689
IDUAN68K, N200KMucopolysaccharidosis type 1, Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S,
Mucopolysaccharidosis, MPS-I-S		Uncertain significance
(Mar 31, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr4:994440
GRCh38:
Chr4:1000652
IDUAL114MMucopolysaccharidosis type 1, Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S,
Mucopolysaccharidosis, MPS-I-S		Uncertain significance
(Jun 8, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr4:985727
GRCh38:
Chr4:991939
IDUA, SLC26A1not provided, Hurler syndrome, Mucopolysaccharidosis, MPS-I-S,
Mucopolysaccharidosis, MPS-I-H/S		Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr4:997485
GRCh38:
Chr4:1003697
IDUAnot provided, Mucopolysaccharidosis, MPS-I-H/S, Hurler syndrome,
Mucopolysaccharidosis, MPS-I-S		Benign
(Jul 10, 2021)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr4:995256
GRCh38:
Chr4:1001468
IDUAG165D, G33DMucopolysaccharidosis type 1, Mucopolysaccharidosis, MPS-I-S, Hurler syndrome,
Mucopolysaccharidosis, MPS-I-H/S		Uncertain significance
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr4:995660
GRCh38:
Chr4:1001872
IDUAH262fs, H130fsHurler syndrome, Mucopolysaccharidosis, MPS-I-S, Hurler syndrome,
Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis type 1, not provided
Pathogenic
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr4:998096
GRCh38:
Chr4:1004308
IDUAW494*, W626*Mucopolysaccharidosis type 1, Mucopolysaccharidosis, MPS-I-S, Hurler syndrome,
Mucopolysaccharidosis, MPS-I-H/S		Pathogenic
(Jun 19, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr4:996600
GRCh38:
Chr4:1002812
IDUAA292T, A424TMucopolysaccharidosis type 1, Mucopolysaccharidosis, MPS-I-S, Hurler syndrome,
Mucopolysaccharidosis, MPS-I-H/S		Uncertain significance
(Jan 13, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr4:994681-994686
GRCh38:
Chr4:1000893-1000898
IDUAHurler syndrome, Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis, MPS-I-S,
Mucopolysaccharidosis type 1, Hurler syndrome		Pathogenic/Likely pathogenic
(Feb 9, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr4:996599
GRCh38:
Chr4:1002811
IDUAS423R, S291Rnot provided, Mucopolysaccharidosis type 1, Mucopolysaccharidosis, MPS-I-S,
Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S		Pathogenic/Likely pathogenic
(Sep 7, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr4:996899
GRCh38:
Chr4:1003111
IDUAP361R, P493Rnot provided, Inborn genetic diseases, Hurler syndrome,
Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis, MPS-I-S, Mucopolysaccharidosis type 1
Uncertain significance
(Nov 14, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr4:996133
GRCh38:
Chr4:1002345
IDUAN350S, N218SMucopolysaccharidosis, MPS-I-SUncertain significance
(May 15, 2019)		criteria provided, single submitter
16.
GRCh37:
Chr4:981703
GRCh38:
Chr4:987915
SLC26A1, IDUAR89WMucopolysaccharidosis type 1, not provided, Mucopolysaccharidosis, MPS-I-S,
Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S		Pathogenic/Likely pathogenic
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr4:996518
GRCh38:
Chr4:1002730
IDUAHurler syndrome, Mucopolysaccharidosis, MPS-I-S, Hurler syndrome,
Mucopolysaccharidosis, MPS-I-H/S		Likely pathogenic
(May 7, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr4:998117
GRCh38:
Chr4:1004329
IDUAS633L, S501LMucopolysaccharidosis type 1, Mucopolysaccharidosis, MPS-I-S, Hurler syndrome,
Mucopolysaccharidosis, MPS-I-H/S, Hurler syndrome		Pathogenic
(Sep 21, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr4:981028
GRCh38:
Chr4:987240
IDUA, SLC26A1F52LHurler syndrome, Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis, MPS-I-S,
Hurler syndrome		Uncertain significance
(Mar 9, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr4:995578
GRCh38:
Chr4:1001790
IDUAS234T, S102TMucopolysaccharidosis, MPS-I-S, not provided, Mucopolysaccharidosis type 1
Conflicting interpretations of pathogenicity
(Aug 25, 2023)		criteria provided, conflicting interpretations
21.
GRCh37:
Chr4:998080
GRCh38:
Chr4:1004292
IDUAR621G, R489GMucopolysaccharidosis type 1, Mucopolysaccharidosis, MPS-I-S, Hurler syndrome,
Mucopolysaccharidosis, MPS-I-H/S, not provided		Uncertain significance
(Jan 18, 2023)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr4:980802
GRCh38:
Chr4:987014
IDUA, SLC26A1Mucopolysaccharidosis type 1, Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S,
Mucopolysaccharidosis, MPS-I-S		Uncertain significance
(Aug 4, 2021)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr4:996012
GRCh38:
Chr4:1002224
IDUAnot provided, Mucopolysaccharidosis, MPS-I-H/S, not specified,
Mucopolysaccharidosis, MPS-I-S, Hurler syndrome		Benign
(Jul 10, 2021)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr4:995997
GRCh38:
Chr4:1002209
IDUAnot provided, Mucopolysaccharidosis, MPS-I-H/S, not specified,
Hurler syndrome, Mucopolysaccharidosis, MPS-I-S		Benign
(Jul 10, 2021)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr4:995422
GRCh38:
Chr4:1001634
IDUAnot provided, Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis, MPS-I-S,
not specified, Hurler syndrome		Benign
(Jul 10, 2021)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr4:996768
GRCh38:
Chr4:1002980
IDUAnot specified, Mucopolysaccharidosis, MPS-I-H/S, not provided,
Hurler syndrome, Mucopolysaccharidosis, MPS-I-S		Benign
(Jul 10, 2021)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr4:995460
GRCh38:
Chr4:1001672
IDUAnot provided, Mucopolysaccharidosis type 1, Hurler syndrome
Pathogenic
(Apr 14, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr4:995530
GRCh38:
Chr4:1001742
IDUAL218P, L86PMucopolysaccharidosis, MPS-I-S, Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S,
not provided, Hurler syndrome, Mucopolysaccharidosis type 1
Pathogenic
(May 9, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr4:981024
GRCh38:
Chr4:987236
IDUA, SLC26A1G51DMucopolysaccharidosis type 1, not provided, Hurler syndrome,
Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis, MPS-I-S, Hurler syndrome
Pathogenic
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr4:997222
GRCh38:
Chr4:1003434
IDUAH539fs, H407fsMucopolysaccharidosis type 1, Mucopolysaccharidosis, MPS-I-S, Hurler syndrome,
Mucopolysaccharidosis, MPS-I-H/S, not provided, Hurler syndrome
Pathogenic
(Sep 28, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr4:980971
GRCh38:
Chr4:987183
IDUA, SLC26A1H33Qnot specified, Mucopolysaccharidosis, MPS-I-S, Mucopolysaccharidosis type 1,
not provided, Mucopolysaccharidosis, MPS-I-H/S, Hurler syndrome
Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr4:995919
GRCh38:
Chr4:1002131
IDUAMucopolysaccharidosis type 1, Hurler syndrome, not provided,
not specified, Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis, MPS-I-S
Benign
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr4:995868
GRCh38:
Chr4:1002080
IDUAMucopolysaccharidosis type 1, Inborn genetic diseases, not specified,
not provided, Mucopolysaccharidosis, MPS-I-S, Mucopolysaccharidosis, MPS-I-H/S,
Hurler syndrome		Benign/Likely benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr4:995459
GRCh38:
Chr4:1001671
IDUAMucopolysaccharidosis type 1, not specified, not provided,
Mucopolysaccharidosis, MPS-I-S, Mucopolysaccharidosis, MPS-I-H/S, Hurler syndrome
Benign
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr4:995305
GRCh38:
Chr4:1001517
IDUAMucopolysaccharidosis type 1, Hurler syndrome, not specified,
not provided, Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis, MPS-I-S
Benign
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr4:980907-980918
GRCh38:
Chr4:987119-987130
IDUA, SLC26A1not provided, IDUA-related condition, Mucopolysaccharidosis, MPS-I-S,
Mucopolysaccharidosis type 1, Hurler syndrome		Pathogenic
(Apr 11, 2023)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr4:994452
GRCh38:
Chr4:1000664
IDUAMucopolysaccharidosis type 1, Hurler syndrome, not specified,
not provided, Mucopolysaccharidosis, MPS-I-S, Mucopolysaccharidosis, MPS-I-H/S
Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr4:994414
GRCh38:
Chr4:1000626
IDUAR105QMucopolysaccharidosis type 1, not specified, Mucopolysaccharidosis, MPS-I-H/S,
not provided, Hurler syndrome, Mucopolysaccharidosis, MPS-I-S
Benign
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr4:996690
GRCh38:
Chr4:1002902
IDUAV454I, V322IMucopolysaccharidosis type 1, not specified, Mucopolysaccharidosis, MPS-I-H/S,
not provided, Mucopolysaccharidosis, MPS-I-S, Hurler syndrome
Benign
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr4:996896
GRCh38:
Chr4:1003108
IDUAR492P, R360PMucopolysaccharidosis type 1, not providedLikely pathogenic
(Aug 30, 2023)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr4:998080
GRCh38:
Chr4:1004292
IDUAR621*, R489*Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis, MPS-I-S,
Mucopolysaccharidosis type 1, not provided, Hurler syndrome
Pathogenic
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr4:997206
GRCh38:
Chr4:1003418
IDUAP533R, P401RInborn genetic diseases, Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S,
Mucopolysaccharidosis, MPS-I-S, Mucopolysaccharidosis type 1, not provided,
Hurler syndrome		Pathogenic
(Jan 18, 2023)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr4:981646
GRCh38:
Chr4:987858
IDUA, SLC26A1Q70*IDUA-related condition, Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S,
Mucopolysaccharidosis, MPS-I-S, Mucopolysaccharidosis type 1, not provided,
Mucopolysaccharidosis, MPS-I-S, Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S,
Interstitial pneumonitis		Pathogenic
(Feb 13, 2023)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr4:996535
GRCh38:
Chr4:1002747
IDUAW402*, W270*IDUA-related condition, Inborn genetic diseases, Hurler syndrome,
Mucopolysaccharidosis, MPS-I-H/S, Mucopolysaccharidosis, MPS-I-S, Mucopolysaccharidosis type 1,
not provided, Hurler syndrome, Mucopolysaccharidosis, MPS-I-H/S,
See cases, Mucopolysacchariduria ...see more		Conflicting interpretations of pathogenicity
(Sep 27, 2023)		criteria provided, conflicting interpretations
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