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Items: 1 to 100 of 1459

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:76938388
GRCh38:
ChrX:77682896
ATRXG749A, G787AAcquired hemoglobin H disease, Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome, X-linked, 1
Uncertain significance
(Sep 1, 2022)
criteria provided, single submitter
2.
GRCh37:
ChrX:76939990
GRCh38:
ChrX:77684498
ATRXL215S, L253SIntellectual disability-hypotonic facies syndrome, X-linked, 1, Alpha thalassemia-X-linked intellectual disability syndromeLikely pathogenic
(Apr 28, 2022)
criteria provided, single submitter
3.
GRCh37:
ChrX:76829814
GRCh38:
ChrX:77574349
ATRXK2038T, K2076TAlpha thalassemia-X-linked intellectual disability syndromeUncertain significance
(Jul 7, 2022)
criteria provided, single submitter
4.
GRCh37:
ChrX:76939352
GRCh38:
ChrX:77683860
ATRXR428*, R466*Alpha thalassemia-X-linked intellectual disability syndromeLikely pathogenic
(Jan 31, 2023)
criteria provided, single submitter
5.
GRCh37:
ChrX:76874343
GRCh38:
ChrX:77618875
ATRXAlpha thalassemia-X-linked intellectual disability syndromeBenign
(Oct 23, 2022)
criteria provided, single submitter
6.
GRCh37:
ChrX:76938371
GRCh38:
ChrX:77682879
ATRXK755E, K793EAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Aug 23, 2022)
criteria provided, single submitter
7.
GRCh37:
ChrX:76937002-76972730
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely pathogenic
(Mar 23, 2022)
criteria provided, single submitter
8.
GRCh37:
ChrX:76763829-76776414
ATRXAlpha thalassemia-X-linked intellectual disability syndromePathogenic
(Jun 20, 2022)
criteria provided, single submitter
9.
GRCh37:
ChrX:76763829-76972740
ATRXAlpha thalassemia-X-linked intellectual disability syndromeUncertain significance
(Aug 12, 2021)
criteria provided, single submitter
10.
GRCh37:
ChrX:77041448-77041487
ATRXAlpha thalassemia-X-linked intellectual disability syndromeUncertain significance
(Oct 14, 2022)
criteria provided, single submitter
11.
GRCh37:
ChrX:76888675-77264780
ATP7A, ATRX, COX7B, MAGT1, PGAM4Alpha thalassemia-X-linked intellectual disability syndrome, X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome,
Cutis laxa, X-linked
Uncertain significance
(May 25, 2022)
criteria provided, single submitter
12.
GRCh37:
ChrX:77041483
GRCh38:
ChrX:77785997
ATRXT2SAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Aug 15, 2022)
criteria provided, single submitter
13.
GRCh37:
ChrX:76938017
GRCh38:
ChrX:77682525
ATRXK873Q, K911QAlpha thalassemia-X-linked intellectual disability syndromeUncertain significance
(Oct 27, 2022)
criteria provided, single submitter
14.
GRCh37:
ChrX:76854915
GRCh38:
ChrX:77599446
ATRXG1936A, G1974AAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Aug 31, 2022)
criteria provided, single submitter
15.
GRCh37:
ChrX:76909661
GRCh38:
ChrX:77654171
ATRXN1377S, N1415SAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Apr 18, 2022)
criteria provided, single submitter
16.
GRCh37:
ChrX:76912142
GRCh38:
ChrX:77656652
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Jan 6, 2022)
criteria provided, single submitter
17.
GRCh37:
ChrX:76938121
GRCh38:
ChrX:77682629
ATRXS838C, S876CAlpha thalassemia-X-linked intellectual disability syndromeUncertain significance
(May 12, 2022)
criteria provided, single submitter
18.
GRCh37:
ChrX:76938831
GRCh38:
ChrX:77683339
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(May 6, 2022)
criteria provided, single submitter
19.
GRCh37:
ChrX:76937280
GRCh38:
ChrX:77681788
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Jun 22, 2022)
criteria provided, single submitter
20.
GRCh37:
ChrX:76939512
GRCh38:
ChrX:77684020
ATRXD374E, D412EAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Aug 20, 2022)
criteria provided, single submitter
21.
GRCh37:
ChrX:76919036
GRCh38:
ChrX:77663547
ATRXQ1281E, Q1319EAlpha thalassemia-X-linked intellectual disability syndromeUncertain significance
(May 16, 2022)
criteria provided, single submitter
22.
GRCh37:
ChrX:76937626
GRCh38:
ChrX:77682134
ATRXD1041V, D1003Vnot provided, Alpha thalassemia-X-linked intellectual disability syndromeConflicting interpretations of pathogenicity
(May 22, 2023)
criteria provided, conflicting interpretations
23.
GRCh37:
ChrX:76937777
GRCh38:
ChrX:77682285
ATRXE953Q, E991QAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Jul 17, 2022)
criteria provided, single submitter
24.
GRCh37:
ChrX:76940013
GRCh38:
ChrX:77684521
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Oct 21, 2022)
criteria provided, single submitter
25.
GRCh37:
ChrX:76937304
GRCh38:
ChrX:77681812
ATRXE1110D, E1148DAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Feb 23, 2022)
criteria provided, single submitter
26.
GRCh37:
ChrX:76855182
GRCh38:
ChrX:77599713
ATRXAlpha thalassemia-X-linked intellectual disability syndromeBenign
(Jul 15, 2022)
criteria provided, single submitter
27.
GRCh37:
ChrX:76918967
GRCh38:
ChrX:77663478
ATRXR1304W, R1342WAlpha thalassemia-X-linked intellectual disability syndromeUncertain significance
(Mar 18, 2022)
criteria provided, single submitter
28.
GRCh37:
ChrX:76778725
GRCh38:
ChrX:77523247
ATRXAlpha thalassemia-X-linked intellectual disability syndromeUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
29.
GRCh37:
ChrX:76938282
GRCh38:
ChrX:77682790
ATRXE784D, E822DAlpha thalassemia-X-linked intellectual disability syndromeUncertain significance
(Jul 25, 2022)
criteria provided, single submitter
30.
GRCh37:
ChrX:76937394
GRCh38:
ChrX:77681902
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Mar 1, 2022)
criteria provided, single submitter
31.
GRCh37:
ChrX:76939632
GRCh38:
ChrX:77684140
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(May 29, 2022)
criteria provided, single submitter
32.
GRCh37:
ChrX:76939584
GRCh38:
ChrX:77684092
ATRXAlpha thalassemia-X-linked intellectual disability syndromeBenign
(Aug 13, 2022)
criteria provided, single submitter
33.
GRCh37:
ChrX:76939481
GRCh38:
ChrX:77683989
ATRXV423I, V385IAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Aug 6, 2022)
criteria provided, single submitter
34.
GRCh37:
ChrX:76939313
GRCh38:
ChrX:77683821
ATRXP479A, P441AAlpha thalassemia-X-linked intellectual disability syndromeUncertain significance
(Apr 7, 2022)
criteria provided, single submitter
35.
GRCh37:
ChrX:76938348
GRCh38:
ChrX:77682856
ATRXS800R, S762RAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Jun 14, 2022)
criteria provided, single submitter
36.
GRCh37:
ChrX:76937379
GRCh38:
ChrX:77681887
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Jul 24, 2022)
criteria provided, single submitter
37.
GRCh37:
ChrX:76940102-76940103
GRCh38:
ChrX:77684610-77684611
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Mar 11, 2022)
criteria provided, single submitter
38.
GRCh37:
ChrX:76891560
GRCh38:
ChrX:77636069
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Mar 9, 2022)
criteria provided, single submitter
39.
GRCh37:
ChrX:76937311
GRCh38:
ChrX:77681819
ATRXT1146I, T1108IAlpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseasesUncertain significance
(Feb 23, 2023)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
ChrX:76939055
GRCh38:
ChrX:77683563
ATRXI565V, I527VAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Oct 16, 2022)
criteria provided, single submitter
41.
GRCh37:
ChrX:76872070
GRCh38:
ChrX:77616602
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Oct 18, 2022)
criteria provided, single submitter
42.
GRCh37:
ChrX:76764116
GRCh38:
ChrX:77508638
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(May 11, 2022)
criteria provided, single submitter
43.
GRCh37:
ChrX:76972643
GRCh38:
ChrX:77717166
ATRXS33NAlpha thalassemia-X-linked intellectual disability syndromeUncertain significance
(May 14, 2022)
criteria provided, single submitter
44.
GRCh37:
ChrX:76875852
GRCh38:
ChrX:77620384
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Aug 8, 2022)
criteria provided, single submitter
45.
GRCh37:
ChrX:76854862
GRCh38:
ChrX:77599393
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Oct 15, 2022)
criteria provided, single submitter
46.
GRCh37:
ChrX:76939515
GRCh38:
ChrX:77684023
ATRXE373D, E411DAlpha thalassemia-X-linked intellectual disability syndromeUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
47.
GRCh37:
ChrX:76939279
GRCh38:
ChrX:77683787
ATRXG490V, G452VAlpha thalassemia-X-linked intellectual disability syndromeUncertain significance
(Mar 19, 2022)
criteria provided, single submitter
48.
GRCh37:
ChrX:76938212
GRCh38:
ChrX:77682720
ATRXD808H, D846HAlpha thalassemia-X-linked intellectual disability syndromeUncertain significance
(Jun 17, 2022)
criteria provided, single submitter
49.
GRCh37:
ChrX:76763924
GRCh38:
ChrX:77508446
ATRXP2424T, P2462TAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Mar 12, 2022)
criteria provided, single submitter
50.
GRCh37:
ChrX:76939193
GRCh38:
ChrX:77683701
ATRXS519A, S481AAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Nov 1, 2022)
criteria provided, single submitter
51.
GRCh37:
ChrX:76937481
GRCh38:
ChrX:77681989
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Sep 13, 2022)
criteria provided, single submitter
52.
GRCh37:
ChrX:76939105
GRCh38:
ChrX:77683613
ATRXG548D, G510DAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Jul 14, 2022)
criteria provided, single submitter
53.
GRCh37:
ChrX:76814236
GRCh38:
ChrX:77558765
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Jul 16, 2022)
criteria provided, single submitter
54.
GRCh37:
ChrX:76937720
GRCh38:
ChrX:77682228
ATRXE972K, E1010KAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Feb 7, 2022)
criteria provided, single submitter
55.
GRCh37:
ChrX:76937552
GRCh38:
ChrX:77682060
ATRXK1066E, K1028EIntellectual disability-hypotonic facies syndrome, X-linked, 1, Alpha thalassemia-X-linked intellectual disability syndromeUncertain significance
(Aug 24, 2021)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
ChrX:76938666
GRCh38:
ChrX:77683174
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Mar 11, 2022)
criteria provided, single submitter
57.
GRCh37:
ChrX:76938729
GRCh38:
ChrX:77683237
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Aug 19, 2022)
criteria provided, single submitter
58.
GRCh37:
ChrX:76940515
GRCh38:
ChrX:77685023
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Jan 8, 2022)
criteria provided, single submitter
59.
GRCh37:
ChrX:76938332
GRCh38:
ChrX:77682840
ATRXK768Q, K806QAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Sep 26, 2022)
criteria provided, single submitter
60.
GRCh37:
ChrX:76939797
GRCh38:
ChrX:77684305
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Sep 15, 2022)
criteria provided, single submitter
61.
GRCh37:
ChrX:76939670
GRCh38:
ChrX:77684178
ATRXI360V, I322VAlpha thalassemia-X-linked intellectual disability syndromeBenign
(May 16, 2022)
criteria provided, single submitter
62.
GRCh37:
ChrX:76777734
GRCh38:
ChrX:77522256
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Jun 25, 2022)
criteria provided, single submitter
63.
GRCh37:
ChrX:76777781
GRCh38:
ChrX:77522303
ATRXN2312S, N2274SAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Sep 14, 2022)
criteria provided, single submitter
64.
GRCh37:
ChrX:76939668
GRCh38:
ChrX:77684176
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Jul 9, 2022)
criteria provided, single submitter
65.
GRCh37:
ChrX:76849154
GRCh38:
ChrX:77593684
ATRXAlpha thalassemia-X-linked intellectual disability syndromeBenign
(Aug 19, 2022)
criteria provided, single submitter
66.
GRCh37:
ChrX:76937936
GRCh38:
ChrX:77682444
ATRXK938E, K900EAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Aug 21, 2022)
criteria provided, single submitter
67.
GRCh37:
ChrX:76912108
GRCh38:
ChrX:77656618
ATRXE1386K, E1348KAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Oct 1, 2022)
criteria provided, single submitter
68.
GRCh37:
ChrX:76937539
GRCh38:
ChrX:77682047
ATRXK1032T, K1070TAlpha thalassemia-X-linked intellectual disability syndromeUncertain significance
(Dec 30, 2021)
criteria provided, single submitter
69.
GRCh37:
ChrX:76939824
GRCh38:
ChrX:77684332
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(May 5, 2022)
criteria provided, single submitter
70.
GRCh37:
ChrX:76952054
GRCh38:
ChrX:77696566
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Jun 21, 2022)
criteria provided, single submitter
71.
GRCh37:
ChrX:76849329
GRCh38:
ChrX:77593859
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(May 29, 2022)
criteria provided, single submitter
72.
GRCh37:
ChrX:76938499
GRCh38:
ChrX:77683007
ATRXS712L, S750LAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Sep 13, 2022)
criteria provided, single submitter
73.
GRCh37:
ChrX:76918956
GRCh38:
ChrX:77663467
ATRXL1307F, L1345Fnot provided, Alpha thalassemia-X-linked intellectual disability syndromeConflicting interpretations of pathogenicity
(Jan 18, 2023)
criteria provided, conflicting interpretations
74.
GRCh37:
ChrX:76939150
GRCh38:
ChrX:77683658
ATRXE533V, E495VAlpha thalassemia-X-linked intellectual disability syndrome, not providedUncertain significance
(Mar 17, 2023)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
ChrX:76891494
GRCh38:
ChrX:77636003
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Mar 17, 2022)
criteria provided, single submitter
76.
GRCh37:
ChrX:77041453
GRCh38:
ChrX:77785967
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Oct 17, 2022)
criteria provided, single submitter
77.
GRCh37:
ChrX:76937662
GRCh38:
ChrX:77682170
ATRXP1029L, P991LAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Sep 14, 2022)
criteria provided, single submitter
78.
GRCh37:
ChrX:76954134
GRCh38:
ChrX:77698646
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Jan 11, 2022)
criteria provided, single submitter
79.
GRCh37:
ChrX:76938229
GRCh38:
ChrX:77682737
ATRXR840I, R802IAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Oct 31, 2022)
criteria provided, single submitter
80.
GRCh37:
ChrX:76937384
GRCh38:
ChrX:77681892
ATRXC1084S, C1122SAlpha thalassemia-X-linked intellectual disability syndromeUncertain significance
(May 5, 2022)
criteria provided, single submitter
81.
GRCh37:
ChrX:76938542
GRCh38:
ChrX:77683050
ATRXA698T, A736TAlpha thalassemia-X-linked intellectual disability syndromeUncertain significance
(Apr 12, 2022)
criteria provided, single submitter
82.
GRCh37:
ChrX:76940435
GRCh38:
ChrX:77684943
ATRXC220R, C182RAlpha thalassemia-X-linked intellectual disability syndromeUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
83.
GRCh37:
ChrX:76813113
GRCh38:
ChrX:77557642
ATRXT2132A, T2170AAlpha thalassemia-X-linked intellectual disability syndromeUncertain significance
(May 27, 2022)
criteria provided, single submitter
84.
GRCh37:
ChrX:76778717
GRCh38:
ChrX:77523239
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Jan 17, 2022)
criteria provided, single submitter
85.
GRCh37:
ChrX:76907775
GRCh38:
ChrX:77652285
ATRXE1424D, E1462DAlpha thalassemia-X-linked intellectual disability syndromeUncertain significance
(May 8, 2022)
criteria provided, single submitter
86.
GRCh37:
ChrX:76937820
GRCh38:
ChrX:77682328
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Aug 29, 2022)
criteria provided, single submitter
87.
GRCh37:
ChrX:76909679
GRCh38:
ChrX:77654189
ATRXK1371R, K1409RAlpha thalassemia-X-linked intellectual disability syndromeUncertain significance
(May 5, 2022)
criteria provided, single submitter
88.
GRCh37:
ChrX:76938173
GRCh38:
ChrX:77682681
ATRXG859R, G821RAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(May 4, 2022)
criteria provided, single submitter
89.
GRCh37:
ChrX:76777863
GRCh38:
ChrX:77522385
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(May 3, 2022)
criteria provided, single submitter
90.
GRCh37:
ChrX:76814245
GRCh38:
ChrX:77558774
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Oct 4, 2022)
criteria provided, single submitter
91.
GRCh37:
ChrX:76912036
GRCh38:
ChrX:77656546
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Oct 13, 2022)
criteria provided, single submitter
92.
GRCh37:
ChrX:76937838
GRCh38:
ChrX:77682346
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(May 24, 2022)
criteria provided, single submitter
93.
GRCh37:
ChrX:76763895
GRCh38:
ChrX:77508417
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(May 5, 2022)
criteria provided, single submitter
94.
GRCh37:
ChrX:76812962
GRCh38:
ChrX:77557491
ATRXS2182L, S2220LAlpha thalassemia-X-linked intellectual disability syndromeBenign
(Apr 23, 2022)
criteria provided, single submitter
95.
GRCh37:
ChrX:76829800
GRCh38:
ChrX:77574335
ATRXI2043F, I2081FAlpha thalassemia-X-linked intellectual disability syndromeUncertain significance
(Apr 20, 2022)
criteria provided, single submitter
96.
GRCh37:
ChrX:76972681
GRCh38:
ChrX:77717204
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Jul 11, 2022)
criteria provided, single submitter
97.
GRCh37:
ChrX:76776980
GRCh38:
ChrX:77521502
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Aug 21, 2022)
criteria provided, single submitter
98.
GRCh37:
ChrX:76939014
GRCh38:
ChrX:77683522
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Apr 12, 2022)
criteria provided, single submitter
99.
GRCh37:
ChrX:76937776
GRCh38:
ChrX:77682284
ATRXE991G, E953GAlpha thalassemia-X-linked intellectual disability syndromeUncertain significance
(May 12, 2022)
criteria provided, single submitter
100.
GRCh37:
ChrX:76854941
GRCh38:
ChrX:77599472
ATRXAlpha thalassemia-X-linked intellectual disability syndromeLikely benign
(Aug 13, 2022)
criteria provided, single submitter
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