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Did you mean PRKDC as a gene symbol? Search ClinVar for PRKDC

See PRKDC protein kinase, DNA-activated, catalytic subunit in the Gene database

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Items: 1 to 100 of 931

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr8:48686746
GRCh38:
Chr8:47774185
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesLikely benign
(Mar 19, 2019)
criteria provided, single submitterVCV000759803
2.
GRCh37:
Chr8:48686778
GRCh38:
Chr8:47774217
PRKDCN4115D, N4084DImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Apr 19, 2019)
criteria provided, single submitterVCV000852672
3.
GRCh37:
Chr8:48686820
GRCh38:
Chr8:47774259
PRKDCE4101Q, E4070QImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Aug 31, 2020)
criteria provided, single submitterVCV001041078
4.
GRCh37:
Chr8:48686829
GRCh38:
Chr8:47774268
PRKDCL4098I, L4067IImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Jan 8, 2018)
criteria provided, single submitterVCV000541989
5.
GRCh37:
Chr8:48686838
GRCh38:
Chr8:47774277
PRKDCE4064Q, E4095QImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Jul 30, 2020)
criteria provided, single submitterVCV001055442
6.
GRCh37:
Chr8:48686905
GRCh38:
Chr8:47774344
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesLikely benign
(Dec 4, 2017)
criteria provided, single submitterVCV000542012
7.
GRCh37:
Chr8:48686943
GRCh38:
Chr8:47774382
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesLikely benign
(Aug 3, 2020)
criteria provided, single submitterVCV001148224
8.
GRCh37:
Chr8:48687031
GRCh38:
Chr8:47774470
PRKDCnot providedLikely benign
(Sep 5, 2018)
criteria provided, single submitterVCV001187693
9.
GRCh37:
Chr8:48689366
GRCh38:
Chr8:47776805
PRKDCnot providedBenign
(Jul 7, 2018)
criteria provided, single submitterVCV001235712
10.
GRCh37:
Chr8:48689431
GRCh38:
Chr8:47776870
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesLikely benign
(Sep 26, 2019)
criteria provided, single submitterVCV001124698
11.
GRCh37:
Chr8:48689445
GRCh38:
Chr8:47776884
PRKDCK4017E, K4048EImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Mar 22, 2020)
criteria provided, single submitterVCV001000710
12.
GRCh37:
Chr8:48689449
GRCh38:
Chr8:47776888
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesBenign
(Dec 2, 2020)
criteria provided, single submitterVCV000542026
13.
GRCh37:
Chr8:48689454
GRCh38:
Chr8:47776893
PRKDCC4014R, C4045RImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Oct 11, 2019)
criteria provided, single submitterVCV000940581
14.
GRCh37:
Chr8:48689465
GRCh38:
Chr8:47776904
PRKDCR4010Q, R4041QImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Oct 10, 2020)
criteria provided, single submitterVCV001062868
15.
GRCh37:
Chr8:48689473
GRCh38:
Chr8:47776912
PRKDCW4038C, W4007CImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Oct 20, 2019)
criteria provided, single submitterVCV000956277
16.
GRCh37:
Chr8:48689481
GRCh38:
Chr8:47776920
PRKDCK4005Q, K4036QImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Feb 17, 2020)
criteria provided, single submitterVCV000961866
17.
GRCh37:
Chr8:48689538
GRCh38:
Chr8:47776977
PRKDCE4017Q, E3986QImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Feb 23, 2018)
criteria provided, single submitterVCV000567106
18.
GRCh37:
Chr8:48689560
GRCh38:
Chr8:47776999
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesLikely benign
(Oct 13, 2020)
criteria provided, single submitterVCV001080414
19.
GRCh37:
Chr8:48689773-48689774
GRCh38:
Chr8:47777212-47777213
PRKDCnot providedBenign
(Aug 10, 2019)
criteria provided, single submitterVCV001241536
20.
GRCh37:
Chr8:48689774
GRCh38:
Chr8:47777213
PRKDCnot providedLikely benign
(Aug 6, 2019)
criteria provided, single submitterVCV001199459
21.
GRCh37:
Chr8:48690066
GRCh38:
Chr8:47777505
PRKDCnot providedBenign
(Jul 7, 2018)
criteria provided, single submitterVCV001222885
22.
GRCh37:
Chr8:48690186
GRCh38:
Chr8:47777625
PRKDCnot providedBenign
(Nov 14, 2019)
criteria provided, single submitterVCV001251181
23.
GRCh37:
Chr8:48690240
GRCh38:
Chr8:47777679
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesLikely benign
(Jul 25, 2019)
criteria provided, single submitterVCV001157261
24.
GRCh37:
Chr8:48690244
GRCh38:
Chr8:47777683
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Dec 11, 2018)
criteria provided, single submitterVCV000660564
25.
GRCh37:
Chr8:48690263
GRCh38:
Chr8:47777702
PRKDCP3978H, P4009HImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Oct 15, 2018)
criteria provided, single submitterVCV000645335
26.
GRCh37:
Chr8:48690271
GRCh38:
Chr8:47777710
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesLikely benign
(Apr 24, 2019)
criteria provided, single submitterVCV001101115
27.
GRCh37:
Chr8:48690291
GRCh38:
Chr8:47777730
PRKDCN3969D, N4000DImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Jul 30, 2019)
criteria provided, single submitterVCV000961473
28.
GRCh37:
Chr8:48690299
GRCh38:
Chr8:47777738
PRKDCL3966P, L3997PImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Oct 10, 2020)
criteria provided, multiple submitters, no conflictsVCV000838947
29.
GRCh37:
Chr8:48690311
GRCh38:
Chr8:47777750
PRKDCS3993L, S3962Lnot providedUncertain significance
(Jan 12, 2017)
criteria provided, single submitterVCV000499849
30.
GRCh37:
Chr8:48690322
GRCh38:
Chr8:47777761
PRKDCnot specifiedLikely benign
(Oct 14, 2016)
criteria provided, single submitterVCV000390083
31.
GRCh37:
Chr8:48690335
GRCh38:
Chr8:47777774
PRKDCV3954A, V3985AImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Aug 2, 2020)
criteria provided, single submitterVCV001045075
32.
GRCh37:
Chr8:48690345
GRCh38:
Chr8:47777784
PRKDCS3951G, S3982GImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Jun 26, 2019)
criteria provided, single submitterVCV000657989
33.
GRCh37:
Chr8:48690349
GRCh38:
Chr8:47777788
PRKDCM3949I, M3980IImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Mar 13, 2019)
criteria provided, single submitterVCV000645773
34.
GRCh37:
Chr8:48690354
GRCh38:
Chr8:47777793
PRKDCL3948V, L3979VImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Feb 7, 2019)
criteria provided, single submitterVCV000847203
35.
GRCh37:
Chr8:48690358
GRCh38:
Chr8:47777797
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesLikely benign
(Sep 9, 2020)
criteria provided, single submitterVCV001113182
36.
GRCh37:
Chr8:48690359
GRCh38:
Chr8:47777798
PRKDCT3946M, T3977Mnot providedUncertain significance
(Jul 11, 2019)
criteria provided, single submitterVCV001302297
37.
GRCh37:
Chr8:48690369
GRCh38:
Chr8:47777808
PRKDCM3974V, M3943VImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Nov 21, 2018)
criteria provided, single submitterVCV000576326
38.
GRCh37:
Chr8:48690378
GRCh38:
Chr8:47777817
PRKDCM3940V, M3971VImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Feb 17, 2019)
criteria provided, single submitterVCV000850250
39.
GRCh37:
Chr8:48690395
GRCh38:
Chr8:47777834
PRKDCR3965H, R3934HImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Oct 1, 2018)
criteria provided, single submitterVCV000661231
40.
GRCh37:
Chr8:48690424
GRCh38:
Chr8:47777863
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesLikely benign
(Feb 27, 2020)
criteria provided, single submitterVCV001124727
41.
GRCh37:
Chr8:48690558
GRCh38:
Chr8:47777997
PRKDCnot providedLikely benign
(Jan 28, 2021)
criteria provided, single submitterVCV001254871
42.
GRCh37:
Chr8:48691014
GRCh38:
Chr8:47778453
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Aug 30, 2018)
criteria provided, single submitterVCV001062843
43.
GRCh37:
Chr8:48691028
GRCh38:
Chr8:47778467
PRKDCA3918T, A3949TImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Aug 25, 2020)
criteria provided, single submitterVCV001003583
44.
GRCh37:
Chr8:48691029
GRCh38:
Chr8:47778468
PRKDCImmunodeficiency 26 with or without neurologic abnormalities, not providedLikely benign
(Sep 28, 2018)
criteria provided, single submitterVCV000754174
45.
GRCh37:
Chr8:48691038
GRCh38:
Chr8:47778477
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesLikely benign
(Aug 20, 2019)
criteria provided, single submitterVCV001110194
46.
GRCh37:
Chr8:48691059
GRCh38:
Chr8:47778498
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesLikely benign
(Nov 18, 2017)
criteria provided, single submitterVCV000542027
47.
GRCh37:
Chr8:48691064
GRCh38:
Chr8:47778503
PRKDCV3906M, V3937MImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Aug 14, 2020)
criteria provided, single submitterVCV001016085
48.
GRCh37:
Chr8:48691067
GRCh38:
Chr8:47778506
PRKDCG3936S, G3905SImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Oct 21, 2020)
criteria provided, single submitterVCV000580964
49.
GRCh37:
Chr8:48691068
GRCh38:
Chr8:47778507
PRKDCImmunodeficiency 26 with or without neurologic abnormalities, not specified, not provided
Benign/Likely benign
(May 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000379753
50.
GRCh37:
Chr8:48691079
GRCh38:
Chr8:47778518
PRKDCM3901V, M3932VImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Jun 5, 2019)
criteria provided, single submitterVCV000846613
51.
GRCh37:
Chr8:48691107
GRCh38:
Chr8:47778546
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesBenign
(Jul 23, 2020)
criteria provided, single submitterVCV001167378
52.
GRCh37:
Chr8:48691113
GRCh38:
Chr8:47778552
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesLikely benign
(Sep 12, 2019)
criteria provided, single submitterVCV001101781
53.
GRCh37:
Chr8:48691119
GRCh38:
Chr8:47778558
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesLikely benign
(Jan 28, 2020)
criteria provided, single submitterVCV000475216
54.
GRCh37:
Chr8:48691160
GRCh38:
Chr8:47778599
PRKDCA3905S, A3874SImmunodeficiency 26 with or without neurologic abnormalities, not providedUncertain significance
(Dec 30, 2019)
criteria provided, multiple submitters, no conflictsVCV000424238
55.
GRCh37:
Chr8:48691175
GRCh38:
Chr8:47778614
PRKDCL3900V, L3869VImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Oct 3, 2020)
criteria provided, single submitterVCV000581148
56.
GRCh37:
Chr8:48691177
GRCh38:
Chr8:47778616
PRKDCA3868V, A3899VImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Apr 12, 2020)
criteria provided, single submitterVCV001020643
57.
GRCh37:
Chr8:48691188
GRCh38:
Chr8:47778627
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesLikely benign
(Jun 24, 2020)
criteria provided, single submitterVCV001107801
58.
GRCh37:
Chr8:48691206
GRCh38:
Chr8:47778645
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesLikely benign
(Nov 26, 2019)
criteria provided, single submitterVCV001104962
59.
GRCh37:
Chr8:48691220
GRCh38:
Chr8:47778659
PRKDCR3854W, R3885WImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Feb 14, 2019)
criteria provided, single submitterVCV000843538
60.
GRCh37:
Chr8:48691280
GRCh38:
Chr8:47778719
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesLikely benign
(Dec 2, 2019)
criteria provided, single submitterVCV001128981
61.
GRCh37:
Chr8:48691290
GRCh38:
Chr8:47778729
PRKDCK3853Q, K3884QImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Oct 21, 2020)
criteria provided, single submitterVCV001063792
62.
GRCh37:
Chr8:48691305
GRCh38:
Chr8:47778744
PRKDCP3848T, P3879TImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Mar 10, 2020)
criteria provided, single submitterVCV001059821
63.
GRCh37:
Chr8:48691325
GRCh38:
Chr8:47778764
PRKDCR3841I, R3872IImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Jul 15, 2020)
criteria provided, single submitterVCV001014466
64.
GRCh37:
Chr8:48691334
GRCh38:
Chr8:47778773
PRKDCT3869M, T3838MImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(May 8, 2019)
criteria provided, single submitterVCV000571579
65.
GRCh37:
Chr8:48691350
GRCh38:
Chr8:47778789
PRKDCR3833C, R3864CImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Sep 15, 2020)
criteria provided, single submitterVCV001005818
66.
GRCh37:
Chr8:48691357
GRCh38:
Chr8:47778796
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesBenign
(Oct 19, 2020)
criteria provided, single submitterVCV000779600
67.
GRCh37:
Chr8:48691583
GRCh38:
Chr8:47779022
PRKDCA3854V, A3823VImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Jul 3, 2018)
criteria provided, single submitterVCV000569786
68.
GRCh37:
Chr8:48691595
GRCh38:
Chr8:47779034
PRKDCH3819L, H3850LImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Aug 25, 2020)
criteria provided, single submitterVCV001057371
69.
GRCh37:
Chr8:48691632
GRCh38:
Chr8:47779071
PRKDCE3807Q, E3838QImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Dec 27, 2018)
criteria provided, single submitterVCV000643387
70.
GRCh37:
Chr8:48691636
GRCh38:
Chr8:47779075
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesLikely benign
(Sep 30, 2019)
criteria provided, single submitterVCV001158425
71.
GRCh37:
Chr8:48691637
GRCh38:
Chr8:47779076
PRKDCP3805L, P3836LImmunodeficiency 26 with or without neurologic abnormalitiesBenign
(Nov 18, 2020)
criteria provided, single submitterVCV000784693
72.
GRCh37:
Chr8:48691639
GRCh38:
Chr8:47779078
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesLikely benign
(Aug 2, 2019)
criteria provided, single submitterVCV001101388
73.
GRCh37:
Chr8:48691655
GRCh38:
Chr8:47779094
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Nov 5, 2018)
criteria provided, single submitterVCV000542009
74.
GRCh37:
Chr8:48691906
GRCh38:
Chr8:47779345
PRKDCnot providedLikely benign
(Mar 17, 2019)
criteria provided, single submitterVCV001181830
75.
GRCh37:
Chr8:48694521
GRCh38:
Chr8:47781960
PRKDCnot providedLikely benign
(Sep 22, 2018)
criteria provided, single submitterVCV001215780
76.
GRCh37:
Chr8:48694746
GRCh38:
Chr8:47782185
PRKDCQ3822HImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Jul 8, 2020)
criteria provided, single submitterVCV000998948
77.
GRCh37:
Chr8:48694956
GRCh38:
Chr8:47782395
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesBenign
(Oct 20, 2020)
criteria provided, single submitterVCV000542033
78.
GRCh37:
Chr8:48694969
GRCh38:
Chr8:47782408
PRKDCR3789KImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Jun 26, 2020)
criteria provided, single submitterVCV001026592
79.
GRCh37:
Chr8:48694998
GRCh38:
Chr8:47782437
PRKDCImmunodeficiency 26 with or without neurologic abnormalities, not providedBenign
(Nov 4, 2020)
criteria provided, single submitterVCV000710699
80.
GRCh37:
Chr8:48695013
GRCh38:
Chr8:47782452
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesLikely benign
(Sep 13, 2019)
criteria provided, single submitterVCV001107352
81.
GRCh37:
Chr8:48695046
GRCh38:
Chr8:47782485
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesLikely benign
(Feb 26, 2020)
criteria provided, single submitterVCV001136116
82.
GRCh37:
Chr8:48695047
GRCh38:
Chr8:47782486
PRKDCR3763HImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Mar 6, 2020)
criteria provided, single submitterVCV000577836
83.
GRCh37:
Chr8:48695059
GRCh38:
Chr8:47782498
PRKDCR3759QImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Sep 25, 2018)
criteria provided, single submitterVCV000659902
84.
GRCh37:
Chr8:48695089
GRCh38:
Chr8:47782528
PRKDCP3749RImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Aug 14, 2020)
criteria provided, single submitterVCV000998949
85.
GRCh37:
Chr8:48695094
GRCh38:
Chr8:47782533
PRKDCE3747DImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Jul 15, 2019)
criteria provided, single submitterVCV000948144
86.
GRCh37:
Chr8:48695098
GRCh38:
Chr8:47782537
PRKDCR3746KImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Feb 28, 2020)
criteria provided, single submitterVCV000939970
87.
GRCh37:
Chr8:48695103
GRCh38:
Chr8:47782542
PRKDCImmunodeficiency 26 with or without neurologic abnormalities, not providedLikely benign
(Nov 10, 2020)
criteria provided, single submitterVCV000757954
88.
GRCh37:
Chr8:48695113
GRCh38:
Chr8:47782552
PRKDCR3741LImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Dec 4, 2017)
criteria provided, single submitterVCV000541993
89.
GRCh37:
Chr8:48695181
GRCh38:
Chr8:47782620
PRKDCnot providedLikely benign
(May 24, 2021)
criteria provided, single submitterVCV001326432
90.
GRCh37:
Chr8:48695210
GRCh38:
Chr8:47782649
PRKDCnot providedBenign
(Nov 14, 2019)
criteria provided, single submitterVCV001282766
91.
GRCh37:
Chr8:48695211
GRCh38:
Chr8:47782650
PRKDCnot providedBenign
(Nov 14, 2019)
criteria provided, single submitterVCV001260879
92.
GRCh37:
Chr8:48695447
GRCh38:
Chr8:47782886
PRKDCnot providedLikely benign
(Aug 6, 2019)
criteria provided, single submitterVCV001188059
93.
GRCh37:
Chr8:48696318
GRCh38:
Chr8:47783757
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesLikely benign
(Aug 14, 2020)
criteria provided, single submitterVCV001116829
94.
GRCh37:
Chr8:48696319
GRCh38:
Chr8:47783758
PRKDCA3720VImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Jan 12, 2020)
criteria provided, single submitterVCV001007802
95.
GRCh37:
Chr8:48696356
GRCh38:
Chr8:47783795
PRKDCR3708GImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Oct 8, 2020)
criteria provided, single submitterVCV001060204
96.
GRCh37:
Chr8:48696357
GRCh38:
Chr8:47783796
PRKDCImmunodeficiency 26 with or without neurologic abnormalities, not providedLikely benign
(Dec 22, 2018)
criteria provided, single submitterVCV000799255
97.
GRCh37:
Chr8:48696360
GRCh38:
Chr8:47783799
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesLikely benign
(Dec 4, 2020)
criteria provided, single submitterVCV000712333
98.
GRCh37:
Chr8:48696598
GRCh38:
Chr8:47784037
PRKDCnot providedBenign
(Aug 19, 2018)
criteria provided, single submitterVCV001246895
99.
GRCh37:
Chr8:48697424
GRCh38:
Chr8:47784863
PRKDCnot providedLikely benign
(Feb 16, 2019)
criteria provided, single submitterVCV001174418
100.
GRCh37:
Chr8:48697675
GRCh38:
Chr8:47785114
PRKDCImmunodeficiency 26 with or without neurologic abnormalitiesUncertain significance
(Feb 25, 2020)
criteria provided, single submitterVCV001009839
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