U.S. flag

An official website of the United States government

Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 84

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr1:93306117
GRCh38:
Chr1:92840560
DIPK1A, RPL5M239VDiamond-Blackfan anemia 6Conflicting interpretations of pathogenicity
(Nov 29, 2022)		criteria provided, conflicting interpretations
2.
GRCh37:
Chr1:93300382
GRCh38:
Chr1:92834825
DIPK1A, RPL5Y79FDiamond-Blackfan anemia 6Uncertain significance
(Sep 30, 2022)		criteria provided, single submitter
3.
GRCh37:
Chr1:93299014
GRCh38:
Chr1:92833457
DIPK1A, RPL5Diamond-Blackfan anemia 6, Diamond-Blackfan anemiaUncertain significance
(Aug 5, 2022)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr1:93303044
GRCh38:
Chr1:92837487
DIPK1A, RPL5S187RDiamond-Blackfan anemia 6Uncertain significance
(May 25, 2020)		criteria provided, single submitter
5.
GRCh37:
Chr1:93303012
GRCh38:
Chr1:92837455
DIPK1A, RPL5Diamond-Blackfan anemia 6Uncertain significance
(May 25, 2020)		criteria provided, single submitter
6.
GRCh37:
Chr1:93297675
GRCh38:
Chr1:92832118
RPL5Diamond-Blackfan anemia 6Likely pathogenic
(May 26, 2021)		criteria provided, single submitter
7.
GRCh37:
Chr1:93299204-93299205
GRCh38:
Chr1:92833647-92833648
DIPK1A, RPL5I60fsDiamond-Blackfan anemia 6, Diamond-Blackfan anemiaPathogenic/Likely pathogenic
(Jan 12, 2023)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr1:93301930
GRCh38:
Chr1:92836373
DIPK1A, RPL5G170fsDiamond-Blackfan anemia 6Likely pathogenic
(Sep 1, 2022)		criteria provided, single submitter
9.
GRCh37:
Chr1:93299218
GRCh38:
Chr1:92833661
DIPK1A, RPL5Diamond-Blackfan anemia 6Likely pathogenic
(Sep 1, 2022)		criteria provided, single submitter
10.
GRCh37:
Chr1:93306206-93306207
GRCh38:
Chr1:92840649-92840650
DIPK1A, RPL5Diamond-Blackfan anemia 6, Diamond-Blackfan anemiaBenign/Likely benign
(Oct 10, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr1:93298942
GRCh38:
Chr1:92833385
DIPK1A, RPL5Diamond-Blackfan anemia 6, Diamond-Blackfan anemiaLikely benign
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr1:93299149-93299171
GRCh38:
Chr1:92833592-92833614
DIPK1A, RPL5K41fsDiamond-Blackfan anemia 6Likely pathogenic
(Oct 4, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr1:93303097-93303098
GRCh38:
Chr1:92837540-92837541
DIPK1A, RPL5A205fsDiamond-Blackfan anemia 6Likely pathogenic
(Mar 22, 2022)		criteria provided, single submitter
14.
GRCh37:
Chr1:93303176
GRCh38:
Chr1:92837619
DIPK1A, RPL5V231IDiamond-Blackfan anemia 6, Diamond-Blackfan anemiaUncertain significance
(Aug 10, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr1:93301766
GRCh38:
Chr1:92836209
DIPK1A, RPL5M115TDiamond-Blackfan anemia, Diamond-Blackfan anemia 6Uncertain significance
(Jan 10, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr1:93301939
GRCh38:
Chr1:92836382
DIPK1A, RPL5I173VDiamond-Blackfan anemia, Diamond-Blackfan anemia 6Uncertain significance
(Apr 15, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr1:93303084
GRCh38:
Chr1:92837527
DIPK1A, RPL5M200TDiamond-Blackfan anemia 6, Diamond-Blackfan anemiaUncertain significance
(May 17, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr1:93300455
GRCh38:
Chr1:92834898
DIPK1A, RPL5Diamond-Blackfan anemia, Diamond-Blackfan anemia 6Likely benign
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr1:93303072
GRCh38:
Chr1:92837515
DIPK1A, RPL5R196QDiamond-Blackfan anemia 6, Diamond-Blackfan anemiaUncertain significance
(Dec 15, 2021)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr1:93306207-93306210
GRCh38:
Chr1:92840650-92840653
RPL5, DIPK1Anot specified, Diamond-Blackfan anemia 6, Diamond-Blackfan anemia
Benign/Likely benign
(Sep 20, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr1:93297685
GRCh38:
Chr1:92832128
RPL5not specified, Diamond-Blackfan anemia, Diamond-Blackfan anemia 6
Benign/Likely benign
(Oct 30, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr1:93301857
GRCh38:
Chr1:92836300
DIPK1A, RPL5not specified, Diamond-Blackfan anemia 6, Diamond-Blackfan anemia
Likely benign
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr1:93299181-93299182
GRCh38:
Chr1:92833624-92833625
DIPK1A, RPL5V53*Diamond-Blackfan anemia 6Likely pathogenic
(Jan 12, 2023)		criteria provided, single submitter
24.
GRCh37:
Chr1:93301845
GRCh38:
Chr1:92836288
DIPK1A, RPL5not specified, Diamond-Blackfan anemia, Diamond-Blackfan anemia 6
Benign/Likely benign
(Sep 14, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr1:93301830
GRCh38:
Chr1:92836273
DIPK1A, RPL5Diamond-Blackfan anemia, Diamond-Blackfan anemia 6Benign/Likely benign
(Oct 12, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr1:93299169
GRCh38:
Chr1:92833612
DIPK1A, RPL5Diamond-Blackfan anemia 6, Diamond-Blackfan anemiaLikely benign
(May 29, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr1:93306204
GRCh38:
Chr1:92840647
DIPK1A, RPL5Diamond-Blackfan anemia 6, Diamond-Blackfan anemiaLikely benign
(Mar 25, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr1:93301881-93301882
GRCh38:
Chr1:92836324-92836325
DIPK1A, RPL5T154*Diamond-Blackfan anemia 6Pathogenic
(Jan 24, 2019)		criteria provided, single submitter
29.
GRCh37:
Chr1:93307416-93307417
GRCh38:
Chr1:92841859-92841860
DIPK1A, RPL5Diamond-Blackfan anemia 6Uncertain significance
(Nov 23, 2020)		criteria provided, single submitter
30.
GRCh37:
Chr1:93299131
GRCh38:
Chr1:92833574
DIPK1A, RPL5R35CDiamond-Blackfan anemia, Diamond-Blackfan anemia 6Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr1:93299219
GRCh38:
Chr1:92833662
DIPK1A, RPL5Diamond-Blackfan anemia 6Likely pathogenic
(Aug 20, 2020)		no assertion criteria provided
32.
GRCh37:
Chr1:92405898-94018197
BRDT, BTBD8, BTBD8, C1orf146, CCDC18, DIPK1A, DR1, EPHX4, EVI5, FNBP1L, GFI1, GLMN, MTF2, RPAP2, RPL5, SNORD21, TMED5
Diamond-Blackfan anemia 6Pathogenicno assertion criteria provided
33.
GRCh37:
Chr1:93300381
GRCh38:
Chr1:92834824
DIPK1A, RPL5Y79NDiamond-Blackfan anemia 6, Diamond-Blackfan anemiaUncertain significance
(Oct 20, 2021)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr1:93303110
GRCh38:
Chr1:92837553
DIPK1A, RPL5R209CDiamond-Blackfan anemia 6, Diamond-Blackfan anemiaUncertain significance
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr1:93300413
GRCh38:
Chr1:92834856
DIPK1A, RPL5V90fsDiamond-Blackfan anemia 6Pathogenicno assertion criteria provided
36.
GRCh37:
Chr1:93307469
GRCh38:
Chr1:92841912
DIPK1A, RPL5Diamond-Blackfan anemia 6Benign
(Jan 13, 2018)		criteria provided, single submitter
37.
GRCh37:
Chr1:93303127
GRCh38:
Chr1:92837570
DIPK1A, RPL5E214DDiamond-Blackfan anemia 6Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
38.
GRCh37:
Chr1:93301822
GRCh38:
Chr1:92836265
DIPK1A, RPL5S134RDiamond-Blackfan anemia 6Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
39.
GRCh37:
Chr1:93300484
GRCh38:
Chr1:92834927
DIPK1A, RPL5Diamond-Blackfan anemia, Diamond-Blackfan anemia 6Benign/Likely benign
(Sep 23, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr1:93298936
GRCh38:
Chr1:92833379
RPL5, DIPK1ADiamond-Blackfan anemia 6Uncertain significance
(Mar 2, 2018)		criteria provided, single submitter
41.
GRCh37:
Chr1:93297686
GRCh38:
Chr1:92832129
RPL5Diamond-Blackfan anemia, Diamond-Blackfan anemia 6Benign/Likely benign
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr1:93297685
GRCh38:
Chr1:92832128
RPL5Diamond-Blackfan anemia 6Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
43.
GRCh37:
Chr1:93297608
GRCh38:
Chr1:92832051
RPL5Diamond-Blackfan anemia 6Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
44.
GRCh37:
Chr1:93297598
GRCh38:
Chr1:92832041
RPL5Diamond-Blackfan anemia 6Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
45.
GRCh37:
Chr1:93299484
Chr1:93299505
Chr1:93299526
Chr1:93299581
Chr1:93299604
GRCh38:
Chr1:92833927
Chr1:92833948
Chr1:92833969
Chr1:92834024
Chr1:92834047
DIPK1A, RPL5, DIPK1A, RPL5, DIPK1A, RPL5, DIPK1A, RPL5, DIPK1A, RPL5Diamond-Blackfan anemia 6association
(Jan 10, 2020)		criteria provided, single submitter
46.
GRCh37:
Chr1:93299484
GRCh38:
Chr1:92833927
DIPK1A, RPL5Diamond-Blackfan anemia 6risk factorcriteria provided, single submitter
47.
GRCh37:
Chr1:93303176-93303177
GRCh38:
Chr1:92837619-92837620
DIPK1A, RPL5T232fsDiamond-Blackfan anemia 6Pathogenic
(Sep 25, 2018)		criteria provided, single submitter
48.
GRCh37:
Chr1:93299200-93299201
GRCh38:
Chr1:92833643-92833644
DIPK1A, RPL5D59fsDiamond-Blackfan anemia 6, Diamond-Blackfan anemiaPathogenic
(Oct 30, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr1:93300415
GRCh38:
Chr1:92834858
DIPK1A, RPL5V90ADiamond-Blackfan anemia, Diamond-Blackfan anemia 6Uncertain significance
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr1:93300375
GRCh38:
Chr1:92834818
DIPK1A, RPL5A77TDiamond-Blackfan anemia 6, Diamond-Blackfan anemiaUncertain significance
(Oct 14, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr1:93303186
GRCh38:
Chr1:92837629
DIPK1A, RPL5D234GDiamond-Blackfan anemia, Diamond-Blackfan anemia 6Conflicting interpretations of pathogenicity
(Aug 23, 2022)		criteria provided, conflicting interpretations
52.
GRCh37:
Chr1:93299194-93299197
GRCh38:
Chr1:92833637-92833640
RPL5, DIPK1AN57fsDiamond-Blackfan anemia 1, not provided, Diamond-Blackfan anemia 6,
Diamond-Blackfan anemia		Pathogenic
(May 4, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr1:93299146
GRCh38:
Chr1:92833589
DIPK1A, RPL5D40NDiamond-Blackfan anemia 6Uncertain significance
(May 3, 2020)		criteria provided, single submitter
54.
GRCh37:
Chr1:93301848
GRCh38:
Chr1:92836291
RPL5, DIPK1AF142LDiamond-Blackfan anemia, Diamond-Blackfan anemia 6Likely benign
(Dec 21, 2021)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr1:93300374
GRCh38:
Chr1:92834817
DIPK1A, RPL5Diamond-Blackfan anemia, Diamond-Blackfan anemia 6Conflicting interpretations of pathogenicity
(Aug 10, 2022)		criteria provided, conflicting interpretations
56.
GRCh37:
Chr1:93307374
GRCh38:
Chr1:92841817
DIPK1A, RPL5Diamond-Blackfan anemia 6, Diamond-Blackfan anemiaBenign
(Jun 16, 2021)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr1:93306183
GRCh38:
Chr1:92840626
DIPK1A, RPL5V261LDiamond-Blackfan anemia, Diamond-Blackfan anemia 6Benign/Likely benign
(Jun 22, 2022)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr1:93301825
GRCh38:
Chr1:92836268
DIPK1A, RPL5I135VDiamond-Blackfan anemia, Diamond-Blackfan anemia 6Conflicting interpretations of pathogenicity
(Nov 2, 2021)		criteria provided, conflicting interpretations
59.
GRCh37:
Chr1:93301736
GRCh38:
Chr1:92836179
DIPK1A, RPL5Diamond-Blackfan anemia, Diamond-Blackfan anemia 6, not specified,
not provided		Conflicting interpretations of pathogenicity
(Oct 25, 2022)		criteria provided, conflicting interpretations
60.
GRCh37:
Chr1:93300348
GRCh38:
Chr1:92834791
DIPK1A, RPL5R68CDiamond-Blackfan anemia 6, Diamond-Blackfan anemiaUncertain significance
(Sep 2, 2021)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr1:93297687
GRCh38:
Chr1:92832130
RPL5Diamond-Blackfan anemia 6, Diamond-Blackfan anemiaBenign/Likely benign
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr1:93297670
GRCh38:
Chr1:92832113
RPL5Diamond-Blackfan anemia 6Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
63.
GRCh37:
Chr1:93297666
GRCh38:
Chr1:92832109
RPL5Diamond-Blackfan anemia 6, not specifiedLikely benign
(May 9, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr1:93297654
GRCh38:
Chr1:92832097
RPL5Diamond-Blackfan anemia 6Benign
(Jan 13, 2018)		criteria provided, single submitter
65.
GRCh37:
Chr1:93297634
GRCh38:
Chr1:92832077
RPL5Diamond-Blackfan anemia 6Likely benign
(Jan 13, 2018)		criteria provided, single submitter
66.
GRCh37:
Chr1:93297630
GRCh38:
Chr1:92832073
RPL5Diamond-Blackfan anemia 6Benign
(Jan 12, 2018)		criteria provided, single submitter
67.
GRCh37:
Chr1:93297626
GRCh38:
Chr1:92832069
RPL5Diamond-Blackfan anemia 6Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
68.
GRCh37:
Chr1:93297624
GRCh38:
Chr1:92832067
RPL5Diamond-Blackfan anemia 6Benign
(Jan 12, 2018)		criteria provided, single submitter
69.
GRCh37:
Chr1:93297620
GRCh38:
Chr1:92832063
RPL5Diamond-Blackfan anemia 6Benign
(Jan 13, 2018)		criteria provided, single submitter
70.
GRCh37:
Chr1:93297617
GRCh38:
Chr1:92832060
RPL5Diamond-Blackfan anemia 6, not providedBenign
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr1:93297614
GRCh38:
Chr1:92832057
RPL5Diamond-Blackfan anemia 6Benign
(Jan 12, 2018)		criteria provided, single submitter
72.
GRCh37:
Chr1:93297610
GRCh38:
Chr1:92832053
RPL5Diamond-Blackfan anemia 6Likely benign
(Jan 12, 2018)		criteria provided, single submitter
73.
GRCh37:
Chr1:93297602
GRCh38:
Chr1:92832045
RPL5Diamond-Blackfan anemia 6Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
74.
GRCh37:
Chr1:93297677
GRCh38:
Chr1:92832120
RPL5not specified, not provided, Diamond-Blackfan anemia 1,
Diamond-Blackfan anemia 6, Diamond-Blackfan anemia		Benign/Likely benign
(Oct 29, 2022)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr1:93303114
GRCh38:
Chr1:92837557
DIPK1A, RPL5Y210Cnot provided, Diamond-Blackfan anemia 6, not specified,
Diamond-Blackfan anemia 1, Diamond-Blackfan anemia		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr1:93300404
GRCh38:
Chr1:92834847
DIPK1A, RPL5Diamond-Blackfan anemia 6, not specified, Diamond-Blackfan anemia
Benign
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr1:93299193
GRCh38:
Chr1:92833636
RPL5, DIPK1ADiamond-Blackfan anemia, not provided, not specified,
Diamond-Blackfan anemia 6		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr1:93303149
GRCh38:
Chr1:92837592
DIPK1A, RPL5Q222*Diamond-Blackfan anemia 6Pathogenic
(Sep 24, 2021)		criteria provided, single submitter
79.
GRCh37:
Chr1:93300390
GRCh38:
Chr1:92834833
DIPK1A, RPL5E82*Diamond-Blackfan anemiaPathogenic
(May 27, 2014)		criteria provided, single submitter
80.
GRCh37:
Chr1:93299017
GRCh38:
Chr1:92833460
DIPK1A, RPL5Diamond-Blackfan anemia 6Pathogenic
(Dec 1, 2008)		no assertion criteria provided
81.
RPL5Diamond-Blackfan anemia 6Pathogenic
(Dec 1, 2008)		no assertion criteria provided
82.
GRCh37:
Chr1:93300380-93300381
GRCh38:
Chr1:92834823-92834824
DIPK1A, RPL5Y79fsDiamond-Blackfan anemia 6Pathogenic
(Dec 1, 2008)		no assertion criteria provided
83.
GRCh37:
Chr1:93301840
GRCh38:
Chr1:92836283
DIPK1A, RPL5G140Snot specified, not provided, Diamond-Blackfan anemia 6,
Diamond-Blackfan anemia		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
84.
GRCh37:
Chr1:93299009
GRCh38:
Chr1:92833452
DIPK1A, RPL5R23*not provided, Diamond-Blackfan anemiaPathogenic
(Aug 28, 2021)		criteria provided, multiple submitters, no conflicts
Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination