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Links from MedGen

Items: 1 to 100 of 6153

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh38:
ChrX:31929309-31932391
DMDDuchenne muscular dystrophyLikely pathogenic
(Aug 24, 2023)
criteria provided, single submitter
2.
GRCh38:
ChrX:32216792-33041819
DMD, MIR3915, MIR548F5Duchenne muscular dystrophyPathogenic
(Aug 24, 2023)
criteria provided, single submitter
3.
GRCh38:
ChrX:32536377-32771300
DMD, MIR3915, MIR548F5Duchenne muscular dystrophyPathogenic
(Aug 24, 2023)
criteria provided, single submitter
4.
GRCh38:
ChrX:31601428-31727780
DMDDuchenne muscular dystrophyPathogenic
(Aug 24, 2023)
criteria provided, single submitter
5.
GRCh37:
ChrX:32459425
GRCh38:
ChrX:32441308
DMDW1142fs, W1257fs, W1261fs, W1265fsDuchenne muscular dystrophyLikely pathogenic
(Jul 5, 2023)
criteria provided, single submitter
6.
GRCh37:
ChrX:32404589
GRCh38:
ChrX:32386472
DMDDuchenne muscular dystrophyUncertain significance
(Jun 27, 2023)
criteria provided, single submitter
7.
GRCh37:
ChrX:32482746-32482750
GRCh38:
ChrX:32464629-32464633
DMDA1069fs, A1073fs, A1077fs, A954fsDuchenne muscular dystrophyLikely pathogenic
(Nov 19, 2022)
criteria provided, single submitter
8.
GRCh37:
ChrX:32490373
GRCh38:
ChrX:32472256
DMDT830fs, T945fs, T949fs, T953fsDuchenne muscular dystrophyLikely pathogeniccriteria provided, single submitter
9.
GRCh37:
ChrX:32407745
GRCh38:
ChrX:32389628
DMDP120fs, P123fs, P1341fs, P1456fs, P1460fs, P1464fsDuchenne muscular dystrophyLikely pathogenic
(Apr 26, 2023)
criteria provided, single submitter
10.
GRCh37:
ChrX:31525564
GRCh38:
ChrX:31507447
DMDQ13*, Q1398*, Q1401*, Q2619*, Q2734*, Q2738*, Q2742*, Q282*Duchenne muscular dystrophyPathogeniccriteria provided, single submitter
11.
GRCh38:
ChrX:31762447-31872385
DMDDuchenne muscular dystrophyPathogeniccriteria provided, single submitter
12.
GRCh37:
ChrX:33038279
GRCh38:
ChrX:33020162
DMDW16R, W20R, W24RDuchenne muscular dystrophyUncertain significance
(Feb 23, 2023)
criteria provided, single submitter
13.
GRCh37:
ChrX:32563445
GRCh38:
ChrX:32545328
DMDQ544*, Q659*, Q663*, Q667*Duchenne muscular dystrophyLikely pathogenic
(Feb 23, 2023)
criteria provided, single submitter
14.
GRCh37:
ChrX:32867900-32867901
GRCh38:
ChrX:32849783-32849784
DMDL36fs, L40fs, L44fsDuchenne muscular dystrophyPathogenic
(Feb 23, 2023)
criteria provided, single submitter
15.
GRCh37:
ChrX:32146927
GRCh38:
ChrX:32128810
DMDnot provided, Duchenne muscular dystrophyUncertain significance
(May 2, 2023)
criteria provided, multiple submitters, no conflicts
16.
DMDDuchenne muscular dystrophyPathogenic
(Jun 9, 2022)
criteria provided, single submitter
17.
GRCh37:
ChrX:32663080
GRCh38:
ChrX:32644963
DMDDuchenne muscular dystrophyLikely pathogenic
(Feb 24, 2023)
criteria provided, single submitter
18.
GRCh37:
ChrX:32383141
GRCh38:
ChrX:32365024
DMDL1551fs, L1666fs, L1670fs, L1674fs, L330fs, L333fsDuchenne muscular dystrophyPathogenic
(Feb 16, 2023)
no assertion criteria provided
19.
GRCh37:
ChrX:31497109
GRCh38:
ChrX:31478992
DMDE1543K, E1546K, E158K, E2764K, E2879K, E2883K, E2887K, E427KDuchenne muscular dystrophyUncertain significance
(Oct 7, 2022)
criteria provided, single submitter
20.
GRCh37:
ChrX:31241250
GRCh38:
ChrX:31223133
DMDDuchenne muscular dystrophyLikely benign
(Sep 7, 2022)
criteria provided, single submitter
21.
GRCh37:
ChrX:31838207
GRCh38:
ChrX:31820090
DMDDuchenne muscular dystrophyLikely benign
(Aug 8, 2022)
criteria provided, single submitter
22.
GRCh37:
ChrX:32632548
GRCh38:
ChrX:32614431
DMDL329F, L444F, L448F, L452FDuchenne muscular dystrophyUncertain significance
(Mar 17, 2022)
criteria provided, single submitter
23.
GRCh37:
ChrX:31986444
GRCh38:
ChrX:31968327
DMDDuchenne muscular dystrophyLikely benign
(May 12, 2022)
criteria provided, single submitter
24.
GRCh37:
ChrX:32328306-32801844
DMDDuchenne muscular dystrophyPathogenic
(Apr 26, 2022)
criteria provided, single submitter
25.
GRCh37:
ChrX:31171146-31227760
DMDDuchenne muscular dystrophyPathogenic
(Feb 15, 2022)
criteria provided, single submitter
26.
GRCh37:
ChrX:31747827-31806244
DMDDuchenne muscular dystrophyLikely pathogenic
(Jun 29, 2022)
criteria provided, single submitter
27.
GRCh37:
ChrX:31697671-31852275
DMDDuchenne muscular dystrophyPathogenic
(Dec 30, 2021)
criteria provided, single submitter
28.
GRCh37:
ChrX:31786037-31893375
DMDDuchenne muscular dystrophyPathogenic
(Mar 7, 2022)
criteria provided, single submitter
29.
GRCh37:
ChrX:31815232-31986493
DMDDuchenne muscular dystrophyPathogenic
(Mar 15, 2022)
criteria provided, single submitter
30.
GRCh37:
ChrX:31854917-32057181
DMDDuchenne muscular dystrophyPathogenic
(Feb 13, 2022)
criteria provided, single submitter
31.
GRCh37:
ChrX:31947853-32089139
DMDDuchenne muscular dystrophyPathogenic
(Jul 3, 2022)
criteria provided, single submitter
32.
GRCh37:
ChrX:32456431-32487970
DMDDuchenne muscular dystrophyPathogenic
(Sep 10, 2022)
criteria provided, single submitter
33.
GRCh37:
ChrX:32582350-32591723
DMDDuchenne muscular dystrophyLikely pathogenic
(Feb 1, 2022)
criteria provided, single submitter
34.
GRCh37:
ChrX:31785365-31792122
DMDDuchenne muscular dystrophyLikely pathogenic
(Jul 19, 2022)
criteria provided, single submitter
35.
GRCh37:
ChrX:31854910-31872176
DMDDuchenne muscular dystrophyLikely pathogenic
(Aug 23, 2022)
criteria provided, single submitter
36.
GRCh37:
ChrX:32133802-32235152
DMDDuchenne muscular dystrophyLikely pathogenic
(Oct 30, 2021)
criteria provided, single submitter
37.
GRCh37:
ChrX:32380885-32756908
DMDDuchenne muscular dystrophyLikely pathogenic
(Apr 15, 2022)
criteria provided, single submitter
38.
GRCh37:
ChrX:32407608-32717420
DMDDuchenne muscular dystrophyLikely pathogenic
(Mar 29, 2022)
criteria provided, single submitter
39.
GRCh37:
ChrX:32456338-32756908
DMDDuchenne muscular dystrophyPathogenic
(Mar 20, 2022)
criteria provided, single submitter
40.
GRCh37:
ChrX:32663061-32717430
DMDDuchenne muscular dystrophyPathogenic
(Dec 22, 2021)
criteria provided, single submitter
41.
GRCh37:
ChrX:32715967-32827748
DMDDuchenne muscular dystrophyLikely pathogenic
(Oct 13, 2022)
criteria provided, single submitter
42.
GRCh37:
ChrX:31140036-31227836
DMDDuchenne muscular dystrophyUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
43.
GRCh37:
ChrX:31152199-31241258
DMDDuchenne muscular dystrophyUncertain significance
(Jun 30, 2022)
criteria provided, single submitter
44.
GRCh37:
ChrX:31222068-31341785
DMDDuchenne muscular dystrophyLikely pathogenic
(Sep 23, 2022)
criteria provided, single submitter
45.
GRCh37:
ChrX:31219364-31497240
DMDDuchenne muscular dystrophyUncertain significance
(Aug 21, 2022)
criteria provided, single submitter
46.
GRCh37:
ChrX:31140036-31525590
DMDDuchenne muscular dystrophyUncertain significance
(Dec 15, 2021)
criteria provided, single submitter
47.
GRCh37:
ChrX:31227595-31627738
DMDDuchenne muscular dystrophyPathogenic
(Aug 3, 2022)
criteria provided, single submitter
48.
GRCh37:
ChrX:31279052-31525590
DMDDuchenne muscular dystrophyPathogenic
(Apr 6, 2022)
criteria provided, single submitter
49.
GRCh37:
ChrX:31496203-31525590
DMDDuchenne muscular dystrophyUncertain significance
(Aug 21, 2022)
criteria provided, single submitter
50.
GRCh37:
ChrX:31227595-31676281
DMDDuchenne muscular dystrophyLikely pathogenic
(Dec 19, 2021)
criteria provided, single submitter
51.
GRCh37:
ChrX:31241144-31676281
DMDDuchenne muscular dystrophyLikely pathogenic
(May 27, 2022)
criteria provided, single submitter
52.
GRCh37:
ChrX:31496203-31697723
DMDDuchenne muscular dystrophyLikely pathogenic
(Nov 13, 2021)
criteria provided, single submitter
53.
GRCh37:
ChrX:31496203-31838220
DMDDuchenne muscular dystrophyLikely pathogenic
(Jun 15, 2022)
criteria provided, single submitter
54.
GRCh37:
ChrX:31514885-31838220
DMDDuchenne muscular dystrophyUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
55.
GRCh37:
ChrX:32632400-32841524
DMDDuchenne muscular dystrophyUncertain significance
(Aug 25, 2022)
criteria provided, single submitter
56.
GRCh37:
ChrX:31697472-31854956
DMDDuchenne muscular dystrophyUncertain significance
(Mar 12, 2022)
criteria provided, single submitter
57.
GRCh37:
ChrX:31838072-31854956
DMDDuchenne muscular dystrophyPathogenic
(Feb 13, 2022)
criteria provided, single submitter
58.
GRCh37:
ChrX:31745485-31950364
DMDDuchenne muscular dystrophyPathogenic
(Apr 26, 2022)
criteria provided, single submitter
59.
GRCh37:
ChrX:31947693-31950364
DMDDuchenne muscular dystrophyPathogenic
(Aug 12, 2021)
criteria provided, single submitter
60.
GRCh37:
ChrX:31676087-31986651
DMDDuchenne muscular dystrophyPathogenic
(Sep 20, 2022)
criteria provided, single submitter
61.
GRCh37:
ChrX:31947693-31986651
DMDDuchenne muscular dystrophyPathogenic
(Apr 7, 2022)
criteria provided, single submitter
62.
GRCh37:
ChrX:31792057-32235200
DMDDuchenne muscular dystrophyPathogenic
(Jul 19, 2022)
criteria provided, single submitter
63.
GRCh37:
ChrX:32235013-32328413
DMDDuchenne muscular dystrophyUncertain significance
(Nov 29, 2021)
criteria provided, single submitter
64.
GRCh37:
ChrX:32305626-32381095
DMDDuchenne muscular dystrophyPathogenic
(Jul 10, 2022)
criteria provided, single submitter
65.
GRCh37:
ChrX:31893285-32383336
DMDDuchenne muscular dystrophyUncertain significance
(Oct 27, 2021)
criteria provided, single submitter
66.
GRCh37:
ChrX:32235013-32383336
DMDDuchenne muscular dystrophyUncertain significance
(Oct 21, 2022)
criteria provided, single submitter
67.
GRCh37:
ChrX:32380885-32430050
DMDDuchenne muscular dystrophyUncertain significance
(Dec 13, 2021)
criteria provided, single submitter
68.
GRCh37:
ChrX:32235013-32867957
DMDDuchenne muscular dystrophyUncertain significance
(Aug 27, 2022)
criteria provided, single submitter
69.
GRCh37:
ChrX:32429849-32867957
DMDDuchenne muscular dystrophyLikely pathogenic
(May 21, 2022)
criteria provided, single submitter
70.
GRCh37:
ChrX:32563256-32867957
DMDDuchenne muscular dystrophyPathogenic
(Jun 19, 2022)
criteria provided, single submitter
71.
GRCh37:
ChrX:32379145-32472969
DMDDuchenne muscular dystrophyUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
72.
GRCh37:
ChrX:32360197-32509655
DMDDuchenne muscular dystrophyPathogenic
(Sep 23, 2022)
criteria provided, single submitter
73.
GRCh37:
ChrX:32486595-32509655
DMDDuchenne muscular dystrophyLikely pathogenic
(Jul 11, 2022)
criteria provided, single submitter
74.
GRCh37:
ChrX:32600728-33038337
DMDDuchenne muscular dystrophyLikely pathogenic
(Dec 7, 2021)
criteria provided, single submitter
75.
GRCh37:
ChrX:32456338-32519979
DMDDuchenne muscular dystrophyUncertain significance
(Nov 20, 2021)
criteria provided, single submitter
76.
GRCh37:
ChrX:32519852-32536268
DMDDuchenne muscular dystrophyLikely pathogenic
(May 29, 2022)
criteria provided, single submitter
77.
GRCh37:
ChrX:32472759-32584018
DMDDuchenne muscular dystrophyUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
78.
GRCh37:
ChrX:32486595-32584018
DMDDuchenne muscular dystrophyUncertain significance
(Mar 25, 2022)
criteria provided, single submitter
79.
GRCh37:
ChrX:31947693-32614013
DMDDuchenne muscular dystrophyUncertain significance
(Nov 27, 2021)
criteria provided, single submitter
80.
GRCh37:
ChrX:32563256-32614013
DMDDuchenne muscular dystrophyLikely pathogenic
(Aug 19, 2022)
criteria provided, single submitter
81.
GRCh37:
ChrX:32600728-32632590
DMDDuchenne muscular dystrophyPathogenic
(Feb 4, 2022)
criteria provided, single submitter
82.
GRCh37:
ChrX:32466553-32663289
DMDDuchenne muscular dystrophyUncertain significance
(Dec 23, 2021)
criteria provided, single submitter
83.
GRCh37:
ChrX:32841402-33357392
DMDDuchenne muscular dystrophyUncertain significance
(Jul 20, 2022)
criteria provided, single submitter
84.
GRCh37:
ChrX:32827590-32827748
DMDDuchenne muscular dystrophyPathogenic
(Aug 24, 2022)
criteria provided, single submitter
85.
GRCh37:
ChrX:31241144-31241258
DMDDuchenne muscular dystrophyUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
86.
GRCh37:
ChrX:31893285-31893510
DMDDuchenne muscular dystrophyUncertain significance
(Apr 9, 2021)
criteria provided, single submitter
87.
GRCh37:
ChrX:32366503-32366665
DMDDuchenne muscular dystrophyUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
88.
GRCh37:
ChrX:32503016-32503236
DMDDuchenne muscular dystrophyLikely pathogenic
(May 12, 2022)
criteria provided, single submitter
89.
GRCh37:
ChrX:31676087-32756908
DMDDuchenne muscular dystrophyPathogenic
(Sep 25, 2022)
criteria provided, single submitter
90.
GRCh37:
ChrX:31838072-32756908
DMDDuchenne muscular dystrophyPathogenic
(Jul 3, 2022)
criteria provided, single submitter
91.
GRCh37:
ChrX:31983146-32756908
DMDDuchenne muscular dystrophyPathogenic
(Nov 21, 2021)
criteria provided, single submitter
92.
GRCh37:
ChrX:32404407-32756908
DMDDuchenne muscular dystrophyPathogenic
(Aug 1, 2022)
criteria provided, single submitter
93.
GRCh37:
ChrX:31164388-31165655
DMDDuchenne muscular dystrophyPathogenic
(Dec 13, 2021)
criteria provided, single submitter
94.
GRCh37:
ChrX:32379145-32827748
DMDDuchenne muscular dystrophyPathogenic
(Apr 16, 2022)
criteria provided, single submitter
95.
GRCh37:
ChrX:32479316-32827748
DMDDuchenne muscular dystrophyPathogenic
(Jan 2, 2022)
criteria provided, single submitter
96.
GRCh37:
ChrX:31196766-31229031
DMDDuchenne muscular dystrophyPathogenic
(Feb 12, 2022)
criteria provided, single submitter
97.
GRCh37:
ChrX:28807451-31241248
Duchenne muscular dystrophyPathogenic
(Jul 18, 2022)
criteria provided, single submitter
98.
GRCh37:
ChrX:31222058-31279781
DMDDuchenne muscular dystrophyPathogenic
(Apr 15, 2022)
criteria provided, single submitter
99.
GRCh37:
ChrX:31241144-31279781
DMDDuchenne muscular dystrophyPathogenic
(Jul 12, 2022)
criteria provided, single submitter
100.
GRCh37:
ChrX:31332523-31462764
DMDDuchenne muscular dystrophyPathogenic
(Feb 4, 2022)
criteria provided, single submitter
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