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Links from MedGen

Items: 66

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr16:88898510
GRCh38:
Chr16:88832102
GALNSMucopolysaccharidosis, MPS-IV-A, Morquio syndromePathogenic
(Dec 27, 2022)		criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr16:88893249
GRCh38:
Chr16:88826841
GALNSMorquio syndrome, Mucopolysaccharidosis, MPS-IV-AConflicting interpretations of pathogenicity
(Aug 7, 2023)		criteria provided, conflicting interpretations
3.
GRCh37:
Chr16:88901651
GRCh38:
Chr16:88835243
GALNSG105S, G290S, G296SMorquio syndrome, Mucopolysaccharidosis, MPS-IV-APathogenic/Likely pathogenic
(Jun 7, 2022)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr16:88901664-88901666
GRCh38:
Chr16:88835256-88835258
GALNSF100del, F285del, F291delMucopolysaccharidosis, MPS-IV-A, Morquio syndrome, not provided
Pathogenic/Likely pathogenic
(Sep 18, 2023)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr16:88909215
GRCh38:
Chr16:88842807
GALNSV48G, V54GMucopolysaccharidosis, MPS-IV-A, Morquio syndromePathogenic/Likely pathogenic
(May 25, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr16:88891260
GRCh38:
Chr16:88824852
GALNSR201H, R386H, R392HMorquio syndrome, Mucopolysaccharidosis, MPS-IV-AConflicting interpretations of pathogenicity
(Nov 14, 2022)		criteria provided, conflicting interpretations
7.
GRCh37:
Chr16:88891275
GRCh38:
Chr16:88824867
GALNSP196fs, P381fs, P387fsMorquio syndrome, Mucopolysaccharidosis, MPS-IV-APathogenic
(Mar 31, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr16:88898470
GRCh38:
Chr16:88832062
GALNST128M, T313M, T319MMorquio syndrome, Mucopolysaccharidosis, MPS-IV-AConflicting interpretations of pathogenicity
(Aug 11, 2023)		criteria provided, conflicting interpretations
9.
GRCh37:
Chr16:88898492
GRCh38:
Chr16:88832084
GALNSF121V, F306V, F312Vnot provided, Morquio syndrome, Mucopolysaccharidosis, MPS-IV-A
Conflicting interpretations of pathogenicity
(Apr 12, 2022)		criteria provided, conflicting interpretations
10.
GRCh37:
Chr16:88908305
GRCh38:
Chr16:88841897
GALNSA107T, A113TMucopolysaccharidosis, MPS-IV-A, Morquio syndromePathogenic/Likely pathogenic
(Aug 23, 2023)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr16:88908343
GRCh38:
Chr16:88841935
GALNSR100L, R94LMucopolysaccharidosis, MPS-IV-A, Morquio syndromePathogenic/Likely pathogenic
(Jul 26, 2023)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr16:88904145
Chr16:88893152
GRCh38:
Chr16:88837737
Chr16:88826744
GALNS, GALNSP151T, P157T, L181P, L366P, L372PMucopolysaccharidosis, MPS-IV-ALikely pathogenic
(May 31, 2019)		no assertion criteria provided
13.
GRCh37:
Chr16:88904098
GRCh38:
Chr16:88837690
GALNSH172Q, H166QMorquio syndrome, Mucopolysaccharidosis, MPS-IV-AConflicting interpretations of pathogenicity
(Sep 8, 2023)		criteria provided, conflicting interpretations
14.
GRCh37:
Chr16:88907476
GRCh38:
Chr16:88841068
GALNSG116S, G122SMucopolysaccharidosis, MPS-IV-A, Morquio syndromePathogenic
(Mar 27, 2023)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr16:88904107
GRCh38:
Chr16:88837699
GALNSN164fs, N170fsMorquio syndrome, Mucopolysaccharidosis, MPS-IV-APathogenic/Likely pathogenic
(Sep 29, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr16:88904098
GRCh38:
Chr16:88837690
GALNSF167fs, F173fsnot provided, Mucopolysaccharidosis, MPS-IV-A, Morquio syndrome
Pathogenic
(Jun 30, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr16:88898511
GRCh38:
Chr16:88832103
GALNSMucopolysaccharidosis, MPS-IV-A, Morquio syndromeLikely pathogenic
(Feb 1, 2021)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr16:88907491
GRCh38:
Chr16:88841083
GALNSQ111*, Q117*Morquio syndrome, Mucopolysaccharidosis, MPS-IV-APathogenic
(Sep 30, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr16:88904130
GRCh38:
Chr16:88837722
GALNSF156L, F162LMucopolysaccharidosis, MPS-IV-A, Morquio syndrome, not provided
Pathogenic/Likely pathogenic
(Mar 7, 2023)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr16:88909119
GRCh38:
Chr16:88842711
GALNSS80L, S86LInborn genetic diseases, Mucopolysaccharidosis, MPS-IV-A, GALNS-related condition,
Morquio syndrome		Pathogenic/Likely pathogenic
(Jun 7, 2023)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr16:88909177
GRCh38:
Chr16:88842769
GALNSR61W, R67WMucopolysaccharidosis, MPS-IV-A, Morquio syndrome, not provided
Pathogenic/Likely pathogenic
(Oct 21, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr16:88878357
GRCh38:
Chr16:88811949
LOC130059760, APRT, GALNSnot provided, Adenine phosphoribosyltransferase deficiency, Morquio syndrome
Benign/Likely benign
(Jul 9, 2018)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr3:33138650
GRCh38:
Chr3:33097158
GLB1, LOC129936434GM1 gangliosidosis, Morquio syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
24.
GRCh37:
Chr3:33138612
GRCh38:
Chr3:33097120
GLB1, LOC129936434, TMPPEGM1 gangliosidosis, Morquio syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
25.
GRCh37:
Chr3:33055679
GRCh38:
Chr3:33014187
GLB1H535D, H583D, H404D, H505DGM1 gangliosidosis, Morquio syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
26.
GRCh37:
Chr3:33038839-33038840
GRCh38:
Chr3:32997347-32997348
GLB1GM1 gangliosidosis, GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B,
Morquio syndrome		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
27.
GRCh37:
Chr16:88907422
GRCh38:
Chr16:88841014
GALNSV134I, V140IMorquio syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
28.
GRCh37:
Chr16:88904145
GRCh38:
Chr16:88837737
GALNSP151T, P157TMorquio syndrome, Mucopolysaccharidosis, MPS-IV-APathogenic/Likely pathogenic
(Jul 26, 2023)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr16:88904097
GRCh38:
Chr16:88837689
GALNSF167V, F173VMorquio syndrome, Mucopolysaccharidosis, MPS-IV-A, not provided
Conflicting interpretations of pathogenicity
(Oct 30, 2022)		criteria provided, conflicting interpretations
30.
GRCh37:
Chr16:88901669
GRCh38:
Chr16:88835261
GALNSF284V, F99V, F290VMucopolysaccharidosis, MPS-IV-A, Morquio syndromeConflicting interpretations of pathogenicity
(Mar 31, 2023)		criteria provided, conflicting interpretations
31.
GRCh37:
Chr16:88889114
GRCh38:
Chr16:88822706
GALNSI416T, I231T, I422TMorquio syndrome, not specified, Mucopolysaccharidosis, MPS-IV-A
Conflicting interpretations of pathogenicity
(May 9, 2023)		criteria provided, conflicting interpretations
32.
GRCh37:
Chr16:88880844
GRCh38:
Chr16:88814436
GALNSMorquio syndrome, Mucopolysaccharidosis, MPS-IV-A, not provided
Conflicting interpretations of pathogenicity
(Aug 1, 2023)		criteria provided, conflicting interpretations
33.
GRCh37:
Chr16:88880724
GRCh38:
Chr16:88814316
GALNSMorquio syndrome, Mucopolysaccharidosis, MPS-IV-AUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
34.
GRCh37:
Chr16:88880640
GRCh38:
Chr16:88814232
GALNSMorquio syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
35.
GRCh37:
Chr16:88880623
GRCh38:
Chr16:88814215
APRT, GALNSMorquio syndrome, Mucopolysaccharidosis, MPS-IV-A, not provided,
Adenine phosphoribosyltransferase deficiency		Benign/Likely benign
(Mar 24, 2019)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr16:88880611
GRCh38:
Chr16:88814203
GALNSMorquio syndrome, Mucopolysaccharidosis, MPS-IV-A, not provided
Conflicting interpretations of pathogenicity
(Mar 1, 2023)		criteria provided, conflicting interpretations
37.
GRCh37:
Chr16:88880560
GRCh38:
Chr16:88814152
GALNSMucopolysaccharidosis, MPS-IV-A, Morquio syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
38.
GRCh37:
Chr16:88880551
GRCh38:
Chr16:88814143
APRT, GALNSAdenine phosphoribosyltransferase deficiency, Mucopolysaccharidosis, MPS-IV-A, not provided,
Morquio syndrome		Benign/Likely benign
(May 12, 2021)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr16:88880480
GRCh38:
Chr16:88814072
APRT, GALNSAdenine phosphoribosyltransferase deficiency, not provided, Mucopolysaccharidosis, MPS-IV-A,
Morquio syndrome		Benign
(May 11, 2021)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr16:88880323
GRCh38:
Chr16:88813915
APRT, GALNSMucopolysaccharidosis, MPS-IV-A, Morquio syndrome, Adenine phosphoribosyltransferase deficiency
Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
41.
GRCh37:
Chr16:88880236
GRCh38:
Chr16:88813828
APRT, GALNSMucopolysaccharidosis, MPS-IV-A, Morquio syndrome, Adenine phosphoribosyltransferase deficiency
Benign
(Jan 12, 2018)		criteria provided, single submitter
42.
GRCh37:
Chr16:88880195
GRCh38:
Chr16:88813787
APRT, GALNSMucopolysaccharidosis, MPS-IV-A, Morquio syndrome, Adenine phosphoribosyltransferase deficiency
Benign
(Jan 12, 2018)		criteria provided, single submitter
43.
GRCh37:
Chr16:88880146
GRCh38:
Chr16:88813738
APRT, GALNSMucopolysaccharidosis, MPS-IV-A, Morquio syndrome, Adenine phosphoribosyltransferase deficiency
Benign
(Jan 12, 2018)		criteria provided, single submitter
44.
GRCh37:
Chr16:88878055
GRCh38:
Chr16:88811647
APRT, GALNSMorquio syndrome, not provided, Adenine phosphoribosyltransferase deficiency
Benign/Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr16:88878048
GRCh38:
Chr16:88811640
APRT, GALNSMorquio syndrome, not provided, Adenine phosphoribosyltransferase deficiency
Benign/Likely benign
(Oct 21, 2022)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr16:88876103
GRCh38:
Chr16:88809695
APRT, GALNSMorquio syndrome, not provided, Adenine phosphoribosyltransferase deficiency
Benign/Likely benign
(Jul 9, 2018)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr16:88876059
GRCh38:
Chr16:88809651
APRT, GALNSMorquio syndrome, not provided, Adenine phosphoribosyltransferase deficiency
Likely benign
(Oct 19, 2018)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr16:88875928
GRCh38:
Chr16:88809520
APRT, GALNSMorquio syndrome, not provided, Adenine phosphoribosyltransferase deficiency
Benign
(Jul 9, 2018)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr16:88875924
GRCh38:
Chr16:88809516
APRT, GALNSMorquio syndrome, Adenine phosphoribosyltransferase deficiencyConflicting interpretations of pathogenicity
(Jun 14, 2016)		criteria provided, conflicting interpretations
50.
GRCh37:
Chr16:88909219
GRCh38:
Chr16:88842811
GALNSG47R, G53RMorquio syndrome, not provided, Mucopolysaccharidosis, MPS-IV-A
Pathogenic/Likely pathogenic
(Jun 28, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr16:88907407
GRCh38:
Chr16:88840999
GALNSG139S, G145SMucopolysaccharidosis, MPS-IV-A, Morquio syndrome, not provided
Pathogenic
(Apr 4, 2023)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr16:88880811
GRCh38:
Chr16:88814403
APRT, GALNSMorquio syndrome, not specified, not provided,
Mucopolysaccharidosis, MPS-IV-A, Adenine phosphoribosyltransferase deficiency		Benign
(Nov 7, 2021)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr16:88898455
GRCh38:
Chr16:88832047
GALNSM318R, M133R, M324RInborn genetic diseases, Morquio syndrome, not provided,
Mucopolysaccharidosis, MPS-IV-A		Pathogenic
(Aug 19, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr16:88902151
GRCh38:
Chr16:88835743
GALNSG247D, G62D, G253DMorquio syndrome, not provided, Mucopolysaccharidosis, MPS-IV-A
Conflicting interpretations of pathogenicity
(Jun 26, 2023)		criteria provided, conflicting interpretations
55.
GRCh37:
Chr16:88923175-88923180
GRCh38:
Chr16:88856767-88856772
GALNS, LOC130059762, TRAPPC2Lnot provided, Morquio syndrome, Mucopolysaccharidosis, MPS-IV-A
Conflicting interpretations of pathogenicity
(Aug 9, 2023)		criteria provided, conflicting interpretations
56.
GRCh37:
Chr16:88908343
GRCh38:
Chr16:88841935
GALNSR94H, R100HMorquio syndrome, not provided, Mucopolysaccharidosis, MPS-IV-A
Conflicting interpretations of pathogenicity
(Feb 16, 2023)		criteria provided, conflicting interpretations
57.
GRCh37:
Chr16:88908379
GRCh38:
Chr16:88841971
GALNSS82L, S88LMorquio syndrome, not provided, Mucopolysaccharidosis, MPS-IV-A
Conflicting interpretations of pathogenicity
(Jun 3, 2022)		criteria provided, conflicting interpretations
58.
GRCh37:
Chr16:88880857
GRCh38:
Chr16:88814449
GALNSW520*, W335*, W526*Morquio syndrome, not provided, Mucopolysaccharidosis, MPS-IV-A
Pathogenic/Likely pathogenic
(Dec 8, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr16:88891246
GRCh38:
Chr16:88824838
GALNSM391V, M397V, M206VMorquio syndrome, not provided, Mucopolysaccharidosis, MPS-IV-A
Pathogenic
(Aug 24, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr16:88893230
GRCh38:
Chr16:88826822
GALNSG340D, G346D, G155DMorquio syndrome, Mucopolysaccharidosis, MPS-IV-APathogenic/Likely pathogenic
(Feb 27, 2023)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr16:88898473
GRCh38:
Chr16:88832065
GALNST312S, T127S, T318SMorquio syndrome, Mucopolysaccharidosis, MPS-IV-APathogenic/Likely pathogenic
(Nov 7, 2021)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr16:88902202
GRCh38:
Chr16:88835794
GALNSW230*, W45*, W236*Mucopolysaccharidosis, MPS-IV-A, Morquio syndromePathogenic
(Nov 7, 2021)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr16:88898507
GRCh38:
Chr16:88832099
GALNSG301C, G116C, G307Cnot provided, Morquio syndrome, Mucopolysaccharidosis, MPS-IV-A
Pathogenic
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr16:88901648
GRCh38:
Chr16:88835240
GALNSA291T, A106T, A297TMorquio syndrome, Mucopolysaccharidosis, MPS-IV-APathogenic/Likely pathogenic
(May 8, 2023)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr16:88907485
GRCh38:
Chr16:88841077
GALNSI113F, I119FMorquio syndrome, not provided, Mucopolysaccharidosis, MPS-IV-A
Pathogenic/Likely pathogenic
(May 28, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr16:88891261
GRCh38:
Chr16:88824853
GALNSR386C, R392C, R201Cnot provided, Morquio syndrome, Mucopolysaccharidosis, MPS-IV-A
Pathogenic/Likely pathogenic
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
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