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Links from MedGen

Items: 75

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr3:197677805
GRCh38:
Chr3:197950934
IQCG, RPL35ADiamond-Blackfan anemia 5Uncertain significance
(Jun 3, 2022)		criteria provided, single submitter
2.
GRCh37:
Chr3:197678034
GRCh38:
Chr3:197951163
IQCG, RPL35AW6RDiamond-Blackfan anemia 5Uncertain significance
(Feb 1, 2022)		criteria provided, single submitter
3.
GRCh37:
Chr3:197680864-197682644
RPL35A, IQCGDiamond-Blackfan anemia 5Likely pathogenic
(Aug 4, 2022)		criteria provided, single submitter
4.
GRCh37:
Chr3:197678026
GRCh38:
Chr3:197951155
RPL35A, IQCGDiamond-Blackfan anemia 5Likely benign
(May 8, 2022)		criteria provided, single submitter
5.
GRCh37:
Chr3:197680962
GRCh38:
Chr3:197954091
IQCG, RPL35AR85CDiamond-Blackfan anemia 5Uncertain significance
(Jun 20, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr3:197678176
GRCh38:
Chr3:197951305
IQCG, RPL35AA53GDiamond-Blackfan anemia 5Uncertain significance
(Jun 15, 2022)		criteria provided, single submitter
7.
GRCh37:
Chr3:197681021
GRCh38:
Chr3:197954150
RPL35A, IQCGDiamond-Blackfan anemia 5Uncertain significance
(Apr 22, 2022)		criteria provided, single submitter
8.
GRCh37:
Chr3:197682632
GRCh38:
Chr3:197955761
IQCG, RPL35ADiamond-Blackfan anemia 5Likely benign
(Jul 30, 2022)		criteria provided, single submitter
9.
GRCh37:
Chr3:197680859
GRCh38:
Chr3:197953988
IQCG, RPL35ADiamond-Blackfan anemia 5Likely benign
(Apr 4, 2022)		criteria provided, single submitter
10.
GRCh37:
Chr3:197680893
GRCh38:
Chr3:197954022
RPL35A, IQCGG62SDiamond-Blackfan anemia 5Uncertain significance
(Sep 13, 2022)		criteria provided, single submitter
11.
GRCh37:
Chr3:197678165
GRCh38:
Chr3:197951294
IQCG, RPL35ADiamond-Blackfan anemia 5Likely benign
(May 16, 2022)		criteria provided, single submitter
12.
GRCh37:
Chr3:197678197
GRCh38:
Chr3:197951326
RPL35A, IQCGDiamond-Blackfan anemia 5Likely benign
(Oct 1, 2022)		criteria provided, single submitter
13.
GRCh37:
Chr3:197680854
GRCh38:
Chr3:197953983
RPL35A, IQCGDiamond-Blackfan anemia 5Likely benign
(Sep 1, 2022)		criteria provided, single submitter
14.
GRCh37:
Chr3:197680895
GRCh38:
Chr3:197954024
IQCG, RPL35ADiamond-Blackfan anemia 5Likely benign
(Oct 7, 2022)		criteria provided, single submitter
15.
GRCh37:
Chr3:197681025
GRCh38:
Chr3:197954154
RPL35A, IQCGDiamond-Blackfan anemia 5Likely benign
(May 15, 2022)		criteria provided, single submitter
16.
GRCh37:
Chr3:197678017
GRCh38:
Chr3:197951146
IQCG, RPL35ADiamond-Blackfan anemia 5Benign
(Apr 28, 2021)		criteria provided, single submitter
17.
GRCh37:
Chr3:197678012
GRCh38:
Chr3:197951141
RPL35A, IQCGDiamond-Blackfan anemia 5Likely benign
(Aug 10, 2022)		criteria provided, single submitter
18.
GRCh37:
Chr3:197682638
GRCh38:
Chr3:197955767
IQCG, RPL35ADiamond-Blackfan anemia 5Likely benign
(Mar 2, 2021)		criteria provided, single submitter
19.
GRCh37:
Chr3:197678017
GRCh38:
Chr3:197951146
IQCG, RPL35ADiamond-Blackfan anemia 5Likely benign
(Apr 23, 2021)		criteria provided, single submitter
20.
GRCh37:
Chr3:197682635
GRCh38:
Chr3:197955764
IQCG, RPL35ADiamond-Blackfan anemia 5Likely benign
(Mar 17, 2021)		criteria provided, single submitter
21.
GRCh37:
Chr3:197682601
GRCh38:
Chr3:197955730
IQCG, RPL35ADiamond-Blackfan anemia 5Likely benign
(Feb 27, 2022)		criteria provided, single submitter
22.
GRCh37:
Chr3:197682601
GRCh38:
Chr3:197955730
RPL35A, IQCGDiamond-Blackfan anemia 5Likely benign
(Feb 9, 2022)		criteria provided, single submitter
23.
GRCh37:
Chr3:197678159
GRCh38:
Chr3:197951288
IQCG, RPL35ADiamond-Blackfan anemia 5Likely benign
(Jan 1, 2022)		criteria provided, single submitter
24.
GRCh37:
Chr3:197678051
GRCh38:
Chr3:197951180
IQCG, RPL35ADiamond-Blackfan anemia 5Likely benign
(May 1, 2021)		criteria provided, single submitter
25.
GRCh37:
Chr3:197682613
GRCh38:
Chr3:197955742
IQCG, RPL35ADiamond-Blackfan anemia 5Likely benign
(Oct 18, 2021)		criteria provided, single submitter
26.
GRCh37:
Chr3:197677866
GRCh38:
Chr3:197950995
IQCG, RPL35ADiamond-Blackfan anemia 5Likely benign
(Jul 6, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr3:197677860
GRCh38:
Chr3:197950989
IQCG, RPL35ADiamond-Blackfan anemia 5Likely benign
(Apr 13, 2022)		criteria provided, single submitter
28.
GRCh37:
Chr3:197680858
GRCh38:
Chr3:197953987
IQCG, RPL35ADiamond-Blackfan anemia 5Likely benign
(Oct 20, 2022)		criteria provided, single submitter
29.
GRCh37:
Chr3:197678197
GRCh38:
Chr3:197951326
IQCG, RPL35ADiamond-Blackfan anemia 5Likely benign
(Dec 4, 2021)		criteria provided, single submitter
30.
GRCh37:
Chr3:197678195
GRCh38:
Chr3:197951324
RPL35A, IQCGDiamond-Blackfan anemia 5Likely benign
(Jul 16, 2021)		criteria provided, single submitter
31.
GRCh37:
Chr3:197678200
GRCh38:
Chr3:197951329
IQCG, RPL35ADiamond-Blackfan anemia 5Likely benign
(Feb 21, 2022)		criteria provided, single submitter
32.
GRCh37:
Chr3:197678108
GRCh38:
Chr3:197951237
IQCG, RPL35ADiamond-Blackfan anemia 5Likely benign
(Jan 31, 2021)		criteria provided, single submitter
33.
GRCh37:
Chr3:197678093
GRCh38:
Chr3:197951222
IQCG, RPL35ADiamond-Blackfan anemia 5Likely benign
(Nov 12, 2021)		criteria provided, single submitter
34.
GRCh37:
Chr3:197678119
GRCh38:
Chr3:197951248
IQCG, RPL35AY34FDiamond-Blackfan anemia 5Uncertain significance
(Sep 1, 2021)		criteria provided, single submitter
35.
GRCh37:
Chr3:197680962
GRCh38:
Chr3:197954091
IQCG, RPL35AR85GDiamond-Blackfan anemia 5Uncertain significance
(Sep 28, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr3:197680979
GRCh38:
Chr3:197954108
IQCG, RPL35ADiamond-Blackfan anemia 5Uncertain significance
(Aug 13, 2021)		criteria provided, single submitter
37.
GRCh37:
Chr3:197678095
GRCh38:
Chr3:197951224
IQCG, RPL35AA26VDiamond-Blackfan anemia 5Uncertain significance
(Aug 5, 2021)		criteria provided, single submitter
38.
GRCh37:
Chr3:197682631
GRCh38:
Chr3:197955760
IQCG, RPL35AP107LDiamond-Blackfan anemia 5Uncertain significance
(Aug 27, 2021)		criteria provided, single submitter
39.
GRCh37:
Chr3:197678046
GRCh38:
Chr3:197951175
IQCG, RPL35AI10VDiamond-Blackfan anemia 5Uncertain significance
(Oct 12, 2021)		criteria provided, single submitter
40.
GRCh37:
Chr3:197678053
GRCh38:
Chr3:197951182
IQCG, RPL35AA12VDiamond-Blackfan anemia 5Uncertain significance
(Dec 17, 2021)		criteria provided, single submitter
41.
GRCh37:
Chr3:197678077
GRCh38:
Chr3:197951206
IQCG, RPL35AN20SDiamond-Blackfan anemia 5Uncertain significance
(Feb 24, 2022)		criteria provided, single submitter
42.
GRCh37:
Chr3:197678127
GRCh38:
Chr3:197951256
IQCG, RPL35AD37NDiamond-Blackfan anemia 5Uncertain significance
(Aug 31, 2021)		criteria provided, single submitter
43.
GRCh37:
Chr3:197680991
GRCh38:
Chr3:197954120
IQCG, RPL35ADiamond-Blackfan anemia 5, Diamond-Blackfan anemiaBenign/Likely benign
(Oct 8, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr3:197680892
GRCh38:
Chr3:197954021
IQCG, RPL35ADiamond-Blackfan anemia 5Likely benign
(Sep 25, 2021)		criteria provided, single submitter
45.
GRCh37:
Chr3:197678075
GRCh38:
Chr3:197951204
IQCG, RPL35ADiamond-Blackfan anemia 5Likely benign
(Jan 16, 2020)		criteria provided, single submitter
46.
GRCh37:
Chr3:197678023
GRCh38:
Chr3:197951152
IQCG, RPL35ADiamond-Blackfan anemia 5Likely benign
(Dec 16, 2019)		criteria provided, single submitter
47.
GRCh37:
Chr3:197678131
GRCh38:
Chr3:197951260
IQCG, RPL35AE38GDiamond-Blackfan anemia 5Uncertain significance
(Aug 24, 2021)		criteria provided, single submitter
48.
GRCh37:
Chr3:197678025
GRCh38:
Chr3:197951154
IQCG, RPL35ADiamond-Blackfan anemia 5, Diamond-Blackfan anemiaConflicting interpretations of pathogenicity
(Oct 27, 2022)		criteria provided, conflicting interpretations
49.
GRCh37:
Chr3:197678107
GRCh38:
Chr3:197951236
IQCG, RPL35AI30TDiamond-Blackfan anemia 5Likely pathogenic
(Sep 2, 2021)		criteria provided, single submitter
50.
GRCh37:
Chr3:197678059
GRCh38:
Chr3:197951188
IQCG, RPL35AY14FDiamond-Blackfan anemia 5Uncertain significance
(Mar 9, 2020)		criteria provided, single submitter
51.
GRCh37:
Chr3:197678052
GRCh38:
Chr3:197951181
RPL35A, IQCGA12TDiamond-Blackfan anemia 5Uncertain significance
(Sep 28, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr3:197682665
GRCh38:
Chr3:197955794
IQCG, RPL35ADiamond-Blackfan anemia 5Likely benign
(Jan 13, 2018)		criteria provided, single submitter
53.
GRCh37:
Chr3:197678073
GRCh38:
Chr3:197951202
IQCG, RPL35AR19WDiamond-Blackfan anemia 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
54.
GRCh37:
Chr3:197678183
GRCh38:
Chr3:197951312
IQCG, RPL35ADiamond-Blackfan anemia 5Likely pathogenic
(Dec 2, 2021)		criteria provided, single submitter
55.
GRCh37:
Chr3:197677839-197682644
IQCG, RPL35ADiamond-Blackfan anemia 5Uncertain significance
(Oct 20, 2022)		criteria provided, single submitter
56.
GRCh37:
Chr3:197677829-197682654
RPL35A, IQCGDiamond-Blackfan anemia 5Uncertain significance
(May 23, 2019)		criteria provided, single submitter
57.
GRCh37:
Chr3:197680966
GRCh38:
Chr3:197954095
RPL35A, IQCGK87fsDiamond-Blackfan anemia 5Pathogenic
(Jul 24, 2018)		criteria provided, single submitter
58.
GRCh37:
Chr3:197680893
GRCh38:
Chr3:197954022
IQCG, RPL35AG62CDiamond-Blackfan anemia 5Likely benign
(Jun 12, 2018)		criteria provided, single submitter
59.
GRCh37:
Chr3:197677829-197682654
GRCh38:
Chr3:197950958-197955783
IQCG, RPL35ADiamond-Blackfan anemia 5Pathogenic
(Sep 16, 2018)		criteria provided, single submitter
60.
GRCh37:
Chr3:197678135-197678136
GRCh38:
Chr3:197951264-197951265
IQCG, RPL35AE40fsDiamond-Blackfan anemia, Diamond-Blackfan anemia 5Pathogenic
(May 15, 2018)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr3:197680980
GRCh38:
Chr3:197954109
IQCG, RPL35AN91DDiamond-Blackfan anemia 5Uncertain significance
(Aug 31, 2021)		criteria provided, single submitter
62.
GRCh37:
Chr3:197681022
GRCh38:
Chr3:197954151
IQCG, RPL35ADiamond-Blackfan anemia 5Uncertain significance
(Apr 7, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr3:197680921
GRCh38:
Chr3:197954050
IQCG, RPL35AW71*Diamond-Blackfan anemia 5Pathogenic
(Sep 18, 2017)		criteria provided, single submitter
64.
GRCh37:
Chr3:197677833-197682650
GRCh38:
Chr3:197950962-197955779
RPL35A, IQCGDiamond-Blackfan anemia 5Pathogenic
(Apr 7, 2017)		criteria provided, single submitter
65.
GRCh37:
Chr3:197682658
GRCh38:
Chr3:197955787
RPL35A, IQCGDiamond-Blackfan anemia 5, Diamond-Blackfan anemiaBenign/Likely benign
(Jan 12, 2018)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr3:197682650
GRCh38:
Chr3:197955779
IQCG, RPL35Anot specified, Diamond-Blackfan anemia 5Benign/Likely benign
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr3:197680975
GRCh38:
Chr3:197954104
IQCG, RPL35AR89QDiamond-Blackfan anemia 5, not providedBenign/Likely benign
(Sep 28, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr3:197678039
GRCh38:
Chr3:197951168
IQCG, RPL35Anot specified, Diamond-Blackfan anemia 5, Diamond-Blackfan anemia
Benign/Likely benign
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr3:197677808
GRCh38:
Chr3:197950937
IQCG, RPL35ADiamond-Blackfan anemia 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
70.
GRCh37:
Chr3:197677804
GRCh38:
Chr3:197950933
IQCG, RPL35ADiamond-Blackfan anemia 5Benign
(Jan 13, 2018)		criteria provided, single submitter
71.
GRCh37:
Chr3:197677092
GRCh38:
Chr3:197950221
IQCG, RPL35ADiamond-Blackfan anemia 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
72.
GRCh37:
Chr3:197677088
GRCh38:
Chr3:197950217
IQCG, RPL35ADiamond-Blackfan anemia 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
73.
GRCh37:
Chr3:197681013
GRCh38:
Chr3:197954142
RPL35A, IQCGR102*Diamond-Blackfan anemia 5Pathogenic
(Sep 1, 2008)		no assertion criteria provided
74.
GRCh37:
Chr3:197678096-197678098
GRCh38:
Chr3:197951225-197951227
IQCG, RPL35AL28delnot provided, Diamond-Blackfan anemia 5Conflicting interpretations of pathogenicity
(Mar 1, 2022)		criteria provided, conflicting interpretations
75.
GRCh37:
Chr3:197678115
GRCh38:
Chr3:197951244
IQCG, RPL35AV33IDiamond-Blackfan anemia 5Pathogenic
(Sep 1, 2008)		no assertion criteria provided
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