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Links from MedGen

Items: 1 to 100 of 200

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:148585815-148585816
GRCh38:
ChrX:149504285-149504286
IDSN38fsMucopolysaccharidosis, MPS-IILikely pathogenic
(Feb 17, 2022)
criteria provided, single submitter
2.
GRCh37:
ChrX:148584907
GRCh38:
ChrX:149503377
IDST118I, T28IMucopolysaccharidosis, MPS-IILikely pathogenic
(Mar 17, 2022)
criteria provided, single submitter
3.
GRCh37:
ChrX:148584973-148584975
GRCh38:
ChrX:149503443-149503445
IDSR96delMucopolysaccharidosis, MPS-IILikely pathogenic
(Aug 26, 2022)
criteria provided, single submitter
4.
GRCh37:
ChrX:148579661
GRCh38:
ChrX:149498130
LOC106050102, IDSH139Y, H229YMucopolysaccharidosis, MPS-IILikely pathogenic
(Mar 29, 2022)
criteria provided, single submitter
5.
GRCh37:
ChrX:148577978-148577979
GRCh38:
ChrX:149496447-149496448
LOC106050102, IDSP170fs, P260fsMucopolysaccharidosis, MPS-IILikely pathogenic
(Nov 30, 2022)
criteria provided, single submitter
6.
GRCh37:
ChrX:148577879
GRCh38:
ChrX:149496348
IDS, LOC106050102Q203*, Q293*Mucopolysaccharidosis, MPS-IILikely pathogenic
(Sep 23, 2022)
criteria provided, single submitter
7.
GRCh37:
ChrX:148577962
GRCh38:
ChrX:149496431
IDS, LOC106050102N175I, N265IMucopolysaccharidosis, MPS-IILikely pathogenic
(Jun 22, 2022)
criteria provided, single submitter
8.
GRCh37:
ChrX:148564581-148564585
GRCh38:
ChrX:149483050-149483054
IDSE359fs, E449fsMucopolysaccharidosis, MPS-IILikely pathogenic
(Jan 18, 2022)
criteria provided, single submitter
9.
GRCh37:
ChrX:148585019
GRCh38:
ChrX:149503489
IDSQ81*Mucopolysaccharidosis, MPS-IIPathogenic
(Jan 9, 2023)
criteria provided, single submitter
10.
GRCh37:
ChrX:148564574
GRCh38:
ChrX:149483043
IDSY362*, Y452*Mucopolysaccharidosis, MPS-IIPathogenic
(Dec 21, 2022)
criteria provided, single submitter
11.
GRCh37:
ChrX:148571973
GRCh38:
ChrX:149490442
IDS, LOC106050102Mucopolysaccharidosis, MPS-IIPathogenic
(Jul 19, 2022)
criteria provided, single submitter
12.
GRCh37:
ChrX:148585808
GRCh38:
ChrX:149504278
IDSL40PMucopolysaccharidosis, MPS-IIUncertain significance
(Dec 13, 2022)
criteria provided, single submitter
13.
GRCh37:
ChrX:148585811
GRCh38:
ChrX:149504281
IDSV39DMucopolysaccharidosis, MPS-IIUncertain significance
(Feb 18, 2022)
criteria provided, single submitter
14.
GRCh37:
ChrX:148564281
GRCh38:
ChrX:149482750
IDSP460R, P550RMucopolysaccharidosis, MPS-IIUncertain significance
(Jul 2, 2021)
criteria provided, single submitter
15.
GRCh37:
ChrX:148585727
GRCh38:
ChrX:149504197
IDSL67PMucopolysaccharidosis, MPS-IIUncertain significance
(Jan 31, 2022)
criteria provided, single submitter
16.
GRCh37:
ChrX:148579636
GRCh38:
ChrX:149498105
LOC106050102, IDSMucopolysaccharidosis, MPS-IIPathogenic
(Jan 23, 2023)
criteria provided, single submitter
17.
GRCh37:
ChrX:148582460-148586667
IDSMucopolysaccharidosis, MPS-IIUncertain significance
(Feb 3, 2021)
criteria provided, single submitter
18.
GRCh37:
ChrX:148564277-148564769
IDSMucopolysaccharidosis, MPS-IIUncertain significance
(Oct 10, 2022)
criteria provided, single submitter
19.
GRCh37:
ChrX:148564277-148564769
IDSMucopolysaccharidosis, MPS-IIPathogenic
(Jun 15, 2022)
criteria provided, single submitter
20.
GRCh37:
ChrX:148564277-148586667
IDSMucopolysaccharidosis, MPS-IIUncertain significance
(Oct 6, 2022)
criteria provided, single submitter
21.
GRCh37:
ChrX:148564277-148586667
IDSMucopolysaccharidosis, MPS-IIPathogenic
(Sep 24, 2022)
criteria provided, single submitter
22.
GRCh37:
ChrX:148568547
GRCh38:
ChrX:149487016
IDS, LOC106050102Mucopolysaccharidosis, MPS-IILikely benign
(Jul 2, 2022)
criteria provided, single submitter
23.
GRCh37:
ChrX:148564627
GRCh38:
ChrX:149483096
IDSG345C, G435CMucopolysaccharidosis, MPS-IIUncertain significance
(May 4, 2022)
criteria provided, single submitter
24.
GRCh37:
ChrX:148585785
GRCh38:
ChrX:149504255
IDSR48CMucopolysaccharidosis, MPS-IIUncertain significance
(Jun 24, 2022)
criteria provided, single submitter
25.
GRCh37:
ChrX:148584831
GRCh38:
ChrX:149503301
IDSMucopolysaccharidosis, MPS-IILikely benign
(Aug 19, 2022)
criteria provided, single submitter
26.
GRCh37:
ChrX:148584880
GRCh38:
ChrX:149503350
IDSG127D, G37DMucopolysaccharidosis, MPS-IIUncertain significance
(Aug 10, 2022)
criteria provided, single submitter
27.
GRCh37:
ChrX:148586576
GRCh38:
ChrX:149505046
IDSN31SMucopolysaccharidosis, MPS-IILikely benign
(Oct 19, 2022)
criteria provided, single submitter
28.
GRCh37:
ChrX:148571881
GRCh38:
ChrX:149490350
IDS, LOC106050102A234T, A324TMucopolysaccharidosis, MPS-IIUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
29.
GRCh37:
ChrX:148582546
GRCh38:
ChrX:149501015
LOC106050102, IDSMucopolysaccharidosis, MPS-IILikely benign
(Apr 6, 2022)
criteria provided, single submitter
30.
GRCh37:
ChrX:148564342
GRCh38:
ChrX:149482811
IDSMucopolysaccharidosis, MPS-IILikely benign
(Jun 1, 2022)
criteria provided, single submitter
31.
GRCh37:
ChrX:148579644
GRCh38:
ChrX:149498113
LOC106050102, IDSMucopolysaccharidosis, MPS-IILikely benign
(May 5, 2022)
criteria provided, single submitter
32.
GRCh37:
ChrX:148584900
GRCh38:
ChrX:149503370
IDSMucopolysaccharidosis, MPS-IILikely benign
(May 5, 2022)
criteria provided, single submitter
33.
GRCh37:
ChrX:148564541
GRCh38:
ChrX:149483010
IDSMucopolysaccharidosis, MPS-IILikely benign
(Dec 24, 2021)
criteria provided, single submitter
34.
GRCh37:
ChrX:148585676
GRCh38:
ChrX:149504146
IDSMucopolysaccharidosis, MPS-IILikely benign
(Jun 3, 2022)
criteria provided, single submitter
35.
GRCh37:
ChrX:148586604
GRCh38:
ChrX:149505074
IDSV22IMucopolysaccharidosis, MPS-IIUncertain significance
(Sep 17, 2022)
criteria provided, single submitter
36.
GRCh37:
ChrX:148582466
GRCh38:
ChrX:149500935
LOC106050102, IDSMucopolysaccharidosis, MPS-IILikely benign
(Mar 15, 2022)
criteria provided, single submitter
37.
GRCh37:
ChrX:148564597
GRCh38:
ChrX:149483066
IDSR445C, R355CMucopolysaccharidosis, MPS-IILikely benign
(Apr 8, 2022)
criteria provided, single submitter
38.
GRCh37:
ChrX:148564716
GRCh38:
ChrX:149483185
IDSS405F, S315FMucopolysaccharidosis, MPS-IIUncertain significance
(Jun 8, 2022)
criteria provided, single submitter
39.
GRCh37:
ChrX:148577930
GRCh38:
ChrX:149496399
LOC106050102, IDSV276I, V186IMucopolysaccharidosis, MPS-IILikely benign
(Oct 5, 2022)
criteria provided, single submitter
40.
GRCh37:
ChrX:148579672
GRCh38:
ChrX:149498141
LOC106050102, IDSY135C, Y225CMucopolysaccharidosis, MPS-IIUncertain significance
(Oct 9, 2021)
criteria provided, single submitter
41.
GRCh37:
ChrX:148571975
GRCh38:
ChrX:149490444
LOC106050102, IDSMucopolysaccharidosis, MPS-IIBenign
(Jun 17, 2022)
criteria provided, single submitter
42.
GRCh37:
ChrX:148564451
GRCh38:
ChrX:149482920
IDSMucopolysaccharidosis, MPS-IILikely benign
(Aug 22, 2022)
criteria provided, single submitter
43.
GRCh37:
ChrX:148579857
GRCh38:
ChrX:149498326
LOC106050102, IDSMucopolysaccharidosis, MPS-IILikely benign
(Mar 1, 2022)
criteria provided, single submitter
44.
GRCh37:
ChrX:148564578
GRCh38:
ChrX:149483047
IDSP361R, P451RMucopolysaccharidosis, MPS-IILikely benign
(May 19, 2022)
criteria provided, single submitter
45.
GRCh37:
ChrX:148564557
GRCh38:
ChrX:149483026
IDSR458H, R368HMucopolysaccharidosis, MPS-IIUncertain significance
(Jun 10, 2022)
criteria provided, single submitter
46.
GRCh37:
ChrX:148571991
GRCh38:
ChrX:149490460
LOC106050102, IDSMucopolysaccharidosis, MPS-IILikely benign
(Jul 30, 2022)
criteria provided, single submitter
47.
GRCh37:
ChrX:148578007
GRCh38:
ChrX:149496476
LOC106050102, IDSA250V, A160VMucopolysaccharidosis, MPS-IIUncertain significance
(Aug 30, 2022)
criteria provided, single submitter
48.
GRCh37:
ChrX:148564596
GRCh38:
ChrX:149483065
IDSR355H, R445HMucopolysaccharidosis, MPS-IILikely benign
(Oct 21, 2022)
criteria provided, single submitter
49.
GRCh37:
ChrX:148564603
GRCh38:
ChrX:149483072
IDSMucopolysaccharidosis, MPS-IIBenign
(Jan 17, 2022)
criteria provided, single submitter
50.
GRCh37:
ChrX:148585697
GRCh38:
ChrX:149504167
IDSA77D, P2TMucopolysaccharidosis, MPS-IIPathogenic
(Mar 14, 2022)
criteria provided, single submitter
51.
GRCh37:
ChrX:148577933
GRCh38:
ChrX:149496402
LOC106050102, IDSD275Y, D185YMucopolysaccharidosis, MPS-IILikely pathogenic
(Jan 3, 2022)
criteria provided, single submitter
52.
GRCh37:
ChrX:148577890
GRCh38:
ChrX:149496359
IDS, LOC106050102P289L, P199LMucopolysaccharidosis, MPS-IIUncertain significance
(Feb 10, 2022)
criteria provided, single submitter
53.
GRCh37:
ChrX:148571973
GRCh38:
ChrX:149490442
LOC106050102, IDSMucopolysaccharidosis, MPS-IIPathogenic
(Oct 4, 2022)
criteria provided, single submitter
54.
GRCh37:
ChrX:148571847
GRCh38:
ChrX:149490316
IDS, LOC106050102H245R, H335RMucopolysaccharidosis, MPS-IIPathogenic
(May 5, 2022)
criteria provided, single submitter
55.
GRCh37:
ChrX:148568471
GRCh38:
ChrX:149486940
LOC106050102, IDSQ389*, Q299*Mucopolysaccharidosis, MPS-IIPathogenic
(Jun 1, 2022)
criteria provided, single submitter
56.
GRCh37:
ChrX:148577910
GRCh38:
ChrX:149496379
LOC106050102, IDSMucopolysaccharidosis, MPS-IILikely benign
(May 13, 2022)
criteria provided, single submitter
57.
GRCh37:
ChrX:148568546
GRCh38:
ChrX:149487015
LOC106050102, IDSP274A, P364AMucopolysaccharidosis, MPS-IIUncertain significance
(Apr 19, 2022)
criteria provided, single submitter
58.
GRCh37:
ChrX:148564304
GRCh38:
ChrX:149482773
IDSMucopolysaccharidosis, MPS-IILikely benign
(Apr 28, 2022)
criteria provided, single submitter
59.
GRCh37:
ChrX:148564301
GRCh38:
ChrX:149482770
IDSMucopolysaccharidosis, MPS-IILikely benign
(Apr 17, 2022)
criteria provided, single submitter
60.
GRCh37:
ChrX:148568618
GRCh38:
ChrX:149487087
LOC106050102, IDSG250S, G340SMucopolysaccharidosis, MPS-IIUncertain significance
(Apr 16, 2022)
criteria provided, single submitter
61.
GRCh37:
ChrX:148577868
GRCh38:
ChrX:149496337
IDS, LOC106050102Mucopolysaccharidosis, MPS-IILikely benign
(Apr 13, 2022)
criteria provided, single submitter
62.
GRCh37:
ChrX:148585744
GRCh38:
ChrX:149504214
IDSMucopolysaccharidosis, MPS-IILikely benign
(Apr 12, 2022)
criteria provided, single submitter
63.
GRCh37:
ChrX:148577880
GRCh38:
ChrX:149496349
IDS, LOC106050102F292L, F202LMucopolysaccharidosis, MPS-IIUncertain significance
(Apr 6, 2022)
criteria provided, single submitter
64.
GRCh37:
ChrX:148564490
GRCh38:
ChrX:149482959
IDSMucopolysaccharidosis, MPS-IILikely benign
(Mar 26, 2022)
criteria provided, single submitter
65.
GRCh37:
ChrX:148579795
GRCh38:
ChrX:149498264
LOC106050102, IDSC184Y, C94YMucopolysaccharidosis, MPS-IIUncertain significance
(Mar 25, 2022)
criteria provided, single submitter
66.
GRCh37:
ChrX:148564566
GRCh38:
ChrX:149483035
IDSG365V, G455VMucopolysaccharidosis, MPS-IIUncertain significance
(Mar 13, 2022)
criteria provided, single submitter
67.
GRCh37:
ChrX:148564281
GRCh38:
ChrX:149482750
IDSP550H, P460HMucopolysaccharidosis, MPS-IIUncertain significance
(Mar 13, 2022)
criteria provided, single submitter
68.
GRCh37:
ChrX:148577940
GRCh38:
ChrX:149496409
IDS, LOC106050102Mucopolysaccharidosis, MPS-IILikely benign
(Mar 3, 2022)
criteria provided, single submitter
69.
GRCh37:
ChrX:148585762
GRCh38:
ChrX:149504232
IDSMucopolysaccharidosis, MPS-IILikely benign
(Mar 8, 2022)
criteria provided, single submitter
70.
GRCh37:
ChrX:148571844
GRCh38:
ChrX:149490313
LOC106050102, IDSMucopolysaccharidosis, MPS-IIPathogenic
(May 8, 2022)
criteria provided, single submitter
71.
GRCh37:
ChrX:148585756
GRCh38:
ChrX:149504226
IDSMucopolysaccharidosis, MPS-IILikely benign
(Feb 4, 2022)
criteria provided, single submitter
72.
GRCh37:
ChrX:148564603
GRCh38:
ChrX:149483072
IDSR353G, R443GMucopolysaccharidosis, MPS-IIUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
73.
GRCh37:
ChrX:148568592
GRCh38:
ChrX:149487061
LOC106050102, IDSMucopolysaccharidosis, MPS-IILikely benign
(Sep 7, 2022)
criteria provided, single submitter
74.
GRCh37:
ChrX:148564478
GRCh38:
ChrX:149482947
IDSMucopolysaccharidosis, MPS-IILikely benign
(Feb 1, 2022)
criteria provided, single submitter
75.
GRCh37:
ChrX:148578006
GRCh38:
ChrX:149496475
IDS, LOC106050102Mucopolysaccharidosis, MPS-IILikely benign
(Jan 18, 2022)
criteria provided, single submitter
76.
GRCh37:
ChrX:148564458
GRCh38:
ChrX:149482927
IDSS491Y, S401YMucopolysaccharidosis, MPS-IIUncertain significance
(Feb 8, 2022)
criteria provided, single submitter
77.
GRCh37:
ChrX:148585023
GRCh38:
ChrX:149503493
IDSMucopolysaccharidosis, MPS-IIUncertain significance
(May 13, 2021)
criteria provided, single submitter
78.
GRCh37:
ChrX:148586610
GRCh38:
ChrX:149505080
IDSV20LInborn genetic diseases, Mucopolysaccharidosis, MPS-IIConflicting interpretations of pathogenicity
(Apr 14, 2022)
criteria provided, conflicting interpretations
79.
GRCh37:
ChrX:148564742
GRCh38:
ChrX:149483211
IDSQ306fs, Q396fsMucopolysaccharidosis, MPS-IIPathogenic
(Jan 11, 2022)
criteria provided, single submitter
80.
GRCh37:
ChrX:148579829
GRCh38:
ChrX:149498298
LOC106050102, IDSG83R, G173RMucopolysaccharidosis, MPS-IIUncertain significance
(Jan 2, 2022)
criteria provided, single submitter
81.
GRCh37:
ChrX:148577943
GRCh38:
ChrX:149496412
LOC106050102, IDSMucopolysaccharidosis, MPS-IILikely benign
(Jan 12, 2022)
criteria provided, single submitter
82.
GRCh37:
ChrX:148571971
GRCh38:
ChrX:149490440
LOC106050102, IDSR294W, R204WMucopolysaccharidosis, MPS-IIUncertain significance
(Jul 29, 2022)
criteria provided, single submitter
83.
GRCh37:
ChrX:148571990
GRCh38:
ChrX:149490459
LOC106050102, IDSMucopolysaccharidosis, MPS-IILikely benign
(Oct 11, 2022)
criteria provided, single submitter
84.
GRCh37:
ChrX:148568470
GRCh38:
ChrX:149486939
IDS, LOC106050102Q299L, Q389LMucopolysaccharidosis, MPS-IILikely benign
(Jul 12, 2022)
criteria provided, single submitter
85.
GRCh37:
ChrX:148564739
GRCh38:
ChrX:149483208
IDSMucopolysaccharidosis, MPS-IILikely benign
(Dec 22, 2021)
criteria provided, single submitter
86.
GRCh37:
ChrX:148564708
GRCh38:
ChrX:149483177
IDSP408S, P318SMucopolysaccharidosis, MPS-IILikely benign
(Oct 26, 2022)
criteria provided, single submitter
87.
GRCh37:
ChrX:148564320
GRCh38:
ChrX:149482789
IDSN447S, N537SMucopolysaccharidosis, MPS-IIUncertain significance
(Jan 11, 2022)
criteria provided, single submitter
88.
GRCh37:
ChrX:148564391
GRCh38:
ChrX:149482860
IDSMucopolysaccharidosis, MPS-IILikely benign
(Dec 18, 2021)
criteria provided, single submitter
89.
GRCh37:
ChrX:148577974
GRCh38:
ChrX:149496443
IDS, LOC106050102P171L, P261LMucopolysaccharidosis, MPS-IIUncertain significance
(Jul 2, 2022)
criteria provided, single submitter
90.
GRCh37:
ChrX:148585033
GRCh38:
ChrX:149503503
IDSMucopolysaccharidosis, MPS-IILikely benign
(Jun 8, 2022)
criteria provided, single submitter
91.
GRCh37:
ChrX:148571856
GRCh38:
ChrX:149490325
IDS, LOC106050102T242I, T332IMucopolysaccharidosis, MPS-IILikely benign
(Oct 17, 2022)
criteria provided, single submitter
92.
GRCh37:
ChrX:148564382
GRCh38:
ChrX:149482851
IDSMucopolysaccharidosis, MPS-IIBenign
(Oct 23, 2022)
criteria provided, single submitter
93.
GRCh37:
ChrX:148586656
GRCh38:
ChrX:149505126
IDSMucopolysaccharidosis, MPS-IILikely benign
(Oct 8, 2022)
criteria provided, single submitter
94.
GRCh37:
ChrX:148577976
GRCh38:
ChrX:149496445
LOC106050102, IDSMucopolysaccharidosis, MPS-IILikely benign
(Sep 9, 2022)
criteria provided, single submitter
95.
GRCh37:
ChrX:148578012
GRCh38:
ChrX:149496481
IDS, LOC106050102Mucopolysaccharidosis, MPS-IILikely benign
(Sep 6, 2022)
criteria provided, single submitter
96.
GRCh37:
ChrX:148577870
GRCh38:
ChrX:149496339
LOC106050102, IDSMucopolysaccharidosis, MPS-IILikely benign
(Aug 30, 2022)
criteria provided, single submitter
97.
GRCh37:
ChrX:148564723
GRCh38:
ChrX:149483192
IDSL313V, L403VMucopolysaccharidosis, MPS-IIUncertain significance
(Aug 25, 2022)
criteria provided, single submitter
98.
GRCh37:
ChrX:148564550
GRCh38:
ChrX:149483019
IDSMucopolysaccharidosis, MPS-IILikely benign
(Aug 24, 2022)
criteria provided, single submitter
99.
GRCh37:
ChrX:148585755
GRCh38:
ChrX:149504225
IDSL58fsMucopolysaccharidosis, MPS-IIPathogenic
(Aug 13, 2022)
criteria provided, single submitter
100.
GRCh37:
ChrX:148585755
GRCh38:
ChrX:149504225
IDSMucopolysaccharidosis, MPS-IILikely benign
(Aug 4, 2022)
criteria provided, single submitter
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