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Links from MedGen

Items: 89

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr12:56436275
GRCh38:
Chr12:56042491
RPS26T24ADiamond-Blackfan anemia 10Uncertain significance
(Dec 1, 2021)		criteria provided, single submitter
2.
GRCh37:
Chr12:56437934
GRCh38:
Chr12:56044150
RPS26M115TDiamond-Blackfan anemia 10Uncertain significance
(Apr 16, 2021)		criteria provided, single submitter
3.
GRCh37:
Chr12:56436387
GRCh38:
Chr12:56042603
RPS26Diamond-Blackfan anemia 10Likely pathogenic
(Dec 8, 2021)		criteria provided, single submitter
4.
GRCh37:
Chr12:56396006-56437938
RPS26, IKZF4, SUOXDiamond-Blackfan anemia 10Pathogenic
(Oct 8, 2022)		criteria provided, single submitter
5.
GRCh37:
Chr12:56437239
GRCh38:
Chr12:56043455
RPS26R92CDiamond-Blackfan anemia 10Uncertain significance
(Aug 13, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr12:56437922
GRCh38:
Chr12:56044138
RPS26P111LDiamond-Blackfan anemia 10Uncertain significance
(Aug 9, 2022)		criteria provided, single submitter
7.
GRCh37:
Chr12:56436298
GRCh38:
Chr12:56042514
RPS26Diamond-Blackfan anemia 10Likely benign
(Sep 8, 2022)		criteria provided, single submitter
8.
GRCh37:
Chr12:56436349
GRCh38:
Chr12:56042565
RPS26Diamond-Blackfan anemia 10Likely benign
(Feb 20, 2022)		criteria provided, single submitter
9.
GRCh37:
Chr12:56437907
GRCh38:
Chr12:56044123
RPS26A106GDiamond-Blackfan anemia 10Uncertain significance
(Apr 7, 2022)		criteria provided, single submitter
10.
GRCh37:
Chr12:56437148
GRCh38:
Chr12:56043364
RPS26Diamond-Blackfan anemia 10Likely benign
(Jun 27, 2022)		criteria provided, single submitter
11.
GRCh37:
Chr12:56437127
GRCh38:
Chr12:56043343
RPS26Diamond-Blackfan anemia 10Likely benign
(Dec 17, 2021)		criteria provided, single submitter
12.
GRCh37:
Chr12:56435965
GRCh38:
Chr12:56042181
RPS26Diamond-Blackfan anemia 10Likely benign
(May 22, 2022)		criteria provided, single submitter
13.
GRCh37:
Chr12:56435957
GRCh38:
Chr12:56042173
RPS26Diamond-Blackfan anemia 10Uncertain significance
(Aug 4, 2022)		criteria provided, single submitter
14.
GRCh37:
Chr12:56435967
GRCh38:
Chr12:56042183
RPS26Diamond-Blackfan anemia 10Likely benign
(Feb 25, 2022)		criteria provided, single submitter
15.
GRCh37:
Chr12:56436281-56436282
GRCh38:
Chr12:56042497-56042498
RPS26A27fsDiamond-Blackfan anemia 10Pathogenic
(Aug 27, 2022)		criteria provided, single submitter
16.
GRCh37:
Chr12:56436394
GRCh38:
Chr12:56042610
RPS26Diamond-Blackfan anemia 10Likely benign
(Sep 6, 2022)		criteria provided, single submitter
17.
GRCh37:
Chr12:56435963
GRCh38:
Chr12:56042179
RPS26Diamond-Blackfan anemia 10Likely benign
(Jul 9, 2022)		criteria provided, single submitter
18.
GRCh37:
Chr12:56437280
GRCh38:
Chr12:56043496
RPS26Diamond-Blackfan anemia 10Uncertain significance
(Oct 8, 2022)		criteria provided, single submitter
19.
GRCh37:
Chr12:56437253
GRCh38:
Chr12:56043469
RPS26Diamond-Blackfan anemia 10Likely benign
(Mar 30, 2022)		criteria provided, single submitter
20.
GRCh37:
Chr12:56437926
GRCh38:
Chr12:56044142
RPS26Diamond-Blackfan anemia 10Likely benign
(Feb 2, 2022)		criteria provided, single submitter
21.
GRCh37:
Chr12:56437918
GRCh38:
Chr12:56044134
RPS26P110SDiamond-Blackfan anemia 10Uncertain significance
(Mar 22, 2022)		criteria provided, single submitter
22.
GRCh37:
Chr12:56436375
GRCh38:
Chr12:56042591
RPS26S57NDiamond-Blackfan anemia 10Uncertain significance
(Aug 5, 2022)		criteria provided, single submitter
23.
GRCh37:
Chr12:56436205
GRCh38:
Chr12:56042421
RPS26Diamond-Blackfan anemia 10, Diamond-Blackfan anemiaConflicting interpretations of pathogenicity
(Jan 14, 2022)		criteria provided, conflicting interpretations
24.
GRCh37:
Chr12:56436405
GRCh38:
Chr12:56042621
RPS26Diamond-Blackfan anemia 10Likely benign
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr12:56435973
GRCh38:
Chr12:56042189
RPS26Diamond-Blackfan anemia 10Likely benign
(Sep 18, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr12:56436196
GRCh38:
Chr12:56042412
RPS26Diamond-Blackfan anemia 10Likely benign
(Sep 4, 2021)		criteria provided, single submitter
27.
GRCh37:
Chr12:56437917
GRCh38:
Chr12:56044133
RPS26Diamond-Blackfan anemia 10Likely benign
(Nov 19, 2021)		criteria provided, single submitter
28.
GRCh37:
Chr12:56436202
GRCh38:
Chr12:56042418
RPS26Diamond-Blackfan anemia 10Likely benign
(May 18, 2021)		criteria provided, single submitter
29.
GRCh37:
Chr12:56437923
GRCh38:
Chr12:56044139
RPS26Diamond-Blackfan anemia 10Likely benign
(Jan 25, 2021)		criteria provided, single submitter
30.
GRCh37:
Chr12:56435966
GRCh38:
Chr12:56042182
RPS26Diamond-Blackfan anemia 10Likely benign
(Oct 17, 2022)		criteria provided, single submitter
31.
GRCh37:
Chr12:56437905
GRCh38:
Chr12:56044121
RPS26Diamond-Blackfan anemia 10Likely benign
(Apr 17, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr12:56437172
GRCh38:
Chr12:56043388
RPS26Diamond-Blackfan anemia 10Likely benign
(Aug 24, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr12:56435967
GRCh38:
Chr12:56042183
RPS26Diamond-Blackfan anemia 10Likely benign
(Sep 15, 2021)		criteria provided, single submitter
34.
GRCh37:
Chr12:56437883-56437886
GRCh38:
Chr12:56044099-56044102
RPS26Diamond-Blackfan anemia 10Likely benign
(Mar 22, 2021)		criteria provided, single submitter
35.
GRCh37:
Chr12:56436265
GRCh38:
Chr12:56042481
RPS26Diamond-Blackfan anemia 10Likely benign
(Oct 13, 2022)		criteria provided, single submitter
36.
GRCh37:
Chr12:56436396
GRCh38:
Chr12:56042612
RPS26Diamond-Blackfan anemia 10Likely benign
(Aug 10, 2022)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr12:56437166
GRCh38:
Chr12:56043382
RPS26Diamond-Blackfan anemia 10Likely benign
(Nov 29, 2021)		criteria provided, single submitter
38.
GRCh37:
Chr12:56436392
GRCh38:
Chr12:56042608
RPS26Diamond-Blackfan anemia 10Uncertain significance
(Aug 10, 2022)		criteria provided, single submitter
39.
GRCh37:
Chr12:56435959
GRCh38:
Chr12:56042175
RPS26Diamond-Blackfan anemia 10Uncertain significance
(Nov 19, 2021)		criteria provided, single submitter
40.
GRCh37:
Chr12:56435951-56437938
RPS26Diamond-Blackfan anemia 10Uncertain significance
(Jun 23, 2021)		criteria provided, single submitter
41.
GRCh37:
Chr12:56436269
GRCh38:
Chr12:56042485
RPS26R22GDiamond-Blackfan anemia 10Uncertain significance
(Sep 1, 2021)		criteria provided, single submitter
42.
GRCh37:
Chr12:56436301
GRCh38:
Chr12:56042517
RPS26Diamond-Blackfan anemia 10Uncertain significance
(Nov 14, 2021)		criteria provided, single submitter
43.
GRCh37:
Chr12:56436275-56436278
GRCh38:
Chr12:56042491-56042494
RPS26N25fsDiamond-Blackfan anemia, Diamond-Blackfan anemia 10Pathogenic/Likely pathogenic
(Sep 2, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr12:56436266
GRCh38:
Chr12:56042482
RPS26I21LDiamond-Blackfan anemia 10Uncertain significance
(Jun 29, 2021)		criteria provided, single submitter
45.
GRCh37:
Chr12:56435955
GRCh38:
Chr12:56042171
RPS26Diamond-Blackfan anemia 10Likely pathogenic
(Oct 5, 2021)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr12:56437235
GRCh38:
Chr12:56043451
RPS26Diamond-Blackfan anemia 10Likely benign
(Jul 19, 2022)		criteria provided, single submitter
47.
GRCh37:
Chr12:56435960
GRCh38:
Chr12:56042176
RPS26Diamond-Blackfan anemia 10Likely benign
(Nov 10, 2021)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr12:56436349
GRCh38:
Chr12:56042565
RPS26Diamond-Blackfan anemia 10Likely benign
(Nov 25, 2019)		criteria provided, single submitter
49.
GRCh37:
Chr12:56436286
GRCh38:
Chr12:56042502
RPS26Diamond-Blackfan anemia 10Likely benign
(May 20, 2022)		criteria provided, single submitter
50.
GRCh37:
Chr12:56436274
GRCh38:
Chr12:56042490
RPS26Diamond-Blackfan anemia 10Likely benign
(Jun 6, 2020)		criteria provided, single submitter
51.
GRCh37:
Chr12:56436211-56436214
GRCh38:
Chr12:56042427-56042430
RPS26K4fsDiamond-Blackfan anemia, Diamond-Blackfan anemia 10Pathogenic
(Jan 22, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr12:56436362
GRCh38:
Chr12:56042578
RPS26I53VDiamond-Blackfan anemia 10Uncertain significance
(Mar 5, 2022)		criteria provided, single submitter
53.
GRCh37:
Chr12:56437231
GRCh38:
Chr12:56043447
RPS26R89HDiamond-Blackfan anemia 10Uncertain significance
(Apr 19, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr12:56436391-56436392
GRCh38:
Chr12:56042607-56042608
RPS26Diamond-Blackfan anemia 10Uncertain significance
(Feb 24, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr12:56437161
GRCh38:
Chr12:56043377
RPS26K66*Diamond-Blackfan anemia 10Pathogenic
(May 22, 2019)		criteria provided, single submitter
56.
GRCh37:
Chr12:56435952
GRCh38:
Chr12:56042168
RPS26M1RDiamond-Blackfan anemia 10Pathogenic
(Oct 5, 2019)		criteria provided, single submitter
57.
GRCh37:
Chr12:56436386
GRCh38:
Chr12:56042602
RPS26Diamond-Blackfan anemia 10Pathogenic
(Feb 19, 2020)		no assertion criteria provided
58.
GRCh37:
Chr12:56437256
GRCh38:
Chr12:56043472
RPS26Diamond-Blackfan anemia 10Likely benign
(Apr 24, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr12:56435967
GRCh38:
Chr12:56042183
RPS26Diamond-Blackfan anemia 10Likely benign
(May 20, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr12:56435962
GRCh38:
Chr12:56042178
RPS26Diamond-Blackfan anemia 10Likely benign
(Feb 18, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr12:56435960
GRCh38:
Chr12:56042176
RPS26Diamond-Blackfan anemia 10Likely benign
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr12:56435942
GRCh38:
Chr12:56042158
RPS26Diamond-Blackfan anemia 10Likely benign
(Jan 13, 2018)		criteria provided, single submitter
63.
GRCh37:
Chr12:56435926
GRCh38:
Chr12:56042142
RPS26Diamond-Blackfan anemia 10Benign
(Jan 12, 2018)		criteria provided, single submitter
64.
GRCh37:
Chr12:56435920
GRCh38:
Chr12:56042136
RPS26Diamond-Blackfan anemia 10Likely benign
(Jan 13, 2018)		criteria provided, single submitter
65.
GRCh37:
Chr12:56435821
GRCh38:
Chr12:56042037
RPS26Diamond-Blackfan anemia 10Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
66.
GRCh37:
Chr12:56436268
GRCh38:
Chr12:56042484
RPS26not provided, Diamond-Blackfan anemia 10Likely benign
(Sep 15, 2021)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr12:56437231
GRCh38:
Chr12:56043447
RPS26R89Pnot specified, Diamond-Blackfan anemia 10Uncertain significance
(Aug 4, 2019)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr12:56437277
GRCh38:
Chr12:56043493
RPS26Diamond-Blackfan anemia 10Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr12:56437185-56437186
GRCh38:
Chr12:56043401-56043402
RPS26V75fsDiamond-Blackfan anemia 10Pathogenic/Likely pathogenic
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr12:56437917
GRCh38:
Chr12:56044133
RPS26not specified, Diamond-Blackfan anemia 10, Diamond-Blackfan anemia
Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr12:56436298
GRCh38:
Chr12:56042514
RPS26Diamond-Blackfan anemia 10, not specified, Diamond-Blackfan anemia
Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
72.
GRCh37:
Chr12:56435948
GRCh38:
Chr12:56042164
RPS26Diamond-Blackfan anemia 10, not specifiedBenign/Likely benign
(May 4, 2022)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr12:56435929
GRCh38:
Chr12:56042145
RPS26Diamond-Blackfan anemia 10, not specifiedBenign
(Dec 27, 2021)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr12:56435924
GRCh38:
Chr12:56042140
RPS26Diamond-Blackfan anemia 10Likely benign
(Jan 12, 2018)		criteria provided, single submitter
75.
GRCh37:
Chr12:56435920
GRCh38:
Chr12:56042136
RPS26not specified, Diamond-Blackfan anemia 10Benign
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr12:56435918
GRCh38:
Chr12:56042134
RPS26Diamond-Blackfan anemia 10Likely benign
(Jan 12, 2018)		criteria provided, single submitter
77.
GRCh37:
Chr12:56435916
GRCh38:
Chr12:56042132
RPS26Diamond-Blackfan anemia 10, not specifiedBenign/Likely benign
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr12:56435871
GRCh38:
Chr12:56042087
RPS26Diamond-Blackfan anemia 10Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
79.
GRCh37:
Chr12:56435802
GRCh38:
Chr12:56042018
RPS26Diamond-Blackfan anemia 10Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
80.
GRCh37:
Chr12:56435742
GRCh38:
Chr12:56041958
RPS26Diamond-Blackfan anemia 10Benign
(Jan 13, 2018)		criteria provided, single submitter
81.
GRCh37:
Chr12:56436260
GRCh38:
Chr12:56042476
RPS26Q19*Diamond-Blackfan anemia 10Pathogenic
(Mar 27, 2018)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr12:56436207
GRCh38:
Chr12:56042423
RPS26Diamond-Blackfan anemia 15 with mandibulofacial dysostosisPathogenic
(May 19, 2015)		criteria provided, single submitter
83.
GRCh37:
Chr12:56437224
GRCh38:
Chr12:56043440
RPS26R87*Diamond-Blackfan anemia, Diamond-Blackfan anemia 15 with mandibulofacial dysostosis, Diamond-Blackfan anemia 10
Pathogenic
(Aug 28, 2021)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr12:56424828-56445284
GRCh38:
Chr12:56031044-56051500
IKZF4, LOC116268441, RPS26Diamond-Blackfan anemia 10Pathogenic
(Nov 1, 2013)		no assertion criteria provided
85.
GRCh37:
Chr12:56435954
GRCh38:
Chr12:56042170
RPS26Diamond-Blackfan anemia 10Pathogenic
(Feb 12, 2010)		no assertion criteria provided
86.
GRCh37:
Chr12:56436235-56436236
GRCh38:
Chr12:56042451-56042452
RPS26A11fsDiamond-Blackfan anemia 10Pathogenic
(Feb 12, 2010)		no assertion criteria provided
87.
GRCh37:
Chr12:56436302
GRCh38:
Chr12:56042518
RPS26D33NDiamond-Blackfan anemia 10Pathogenic
(Feb 12, 2010)		no assertion criteria provided
88.
GRCh37:
Chr12:56435951
GRCh38:
Chr12:56042167
RPS26M1Lnot providedPathogenic
(Nov 1, 2020)		criteria provided, single submitter
89.
GRCh37:
Chr12:56435951
GRCh38:
Chr12:56042167
RPS26M1VDiamond-Blackfan anemia, Diamond-Blackfan anemia 10Pathogenic
(Jan 25, 2023)		criteria provided, multiple submitters, no conflicts
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