| - GRCh37:
- Chr4:39226644
- GRCh38:
- Chr4:39225024
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Likely benign
(Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39184178-39259194
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Uncertain significance
(Mar 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39218734-39219745
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Pathogenic
(Jan 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39216201-39218880
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Pathogenic
(Apr 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39226484-39226673
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(Jun 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39278676
- GRCh38:
- Chr4:39277056
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Likely benign
(Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39245931
- GRCh38:
- Chr4:39244311
| WDR19 | R669G, R829G | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Uncertain significance
(Jun 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39245932
- GRCh38:
- Chr4:39244312
| WDR19 | R669Q, R829Q | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(Oct 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39226545
- GRCh38:
- Chr4:39224925
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Likely benign
(Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39246973
- GRCh38:
- Chr4:39245353
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(Nov 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39196246
- GRCh38:
- Chr4:39194626
| WDR19 | N125H | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39207234
- GRCh38:
- Chr4:39205614
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Likely benign
(Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39233832
- GRCh38:
- Chr4:39232212
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Likely benign
(Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39229930
- GRCh38:
- Chr4:39228310
| WDR19 | D417G, D577G | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Uncertain significance
(Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39271583
- GRCh38:
- Chr4:39269963
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Likely benign
(Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39207234
- GRCh38:
- Chr4:39205614
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Likely benign
(Jul 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39267676
- GRCh38:
- Chr4:39266056
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Likely benign
(Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39201221
- GRCh38:
- Chr4:39199601
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(Jul 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39259153
- GRCh38:
- Chr4:39257533
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Likely benign
(Aug 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39245949
- GRCh38:
- Chr4:39244329
| WDR19 | L835V, L675V | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(Dec 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39236417
- GRCh38:
- Chr4:39234797
| WDR19 | A602V, A762V | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39255565
- GRCh38:
- Chr4:39253945
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Likely benign
(Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39187392
- GRCh38:
- Chr4:39185772
| WDR19 | Q18R | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39201226
- GRCh38:
- Chr4:39199606
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Likely benign
(Aug 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39267729
- GRCh38:
- Chr4:39266109
| WDR19 | H917R, H1077R | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Uncertain significance
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39274584
- GRCh38:
- Chr4:39272964
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Likely benign
(Apr 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39207215
- GRCh38:
- Chr4:39205595
| WDR19 | S90*, S250* | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Pathogenic
(Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39229985
- GRCh38:
- Chr4:39228365
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Likely benign
(Dec 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39269641
- GRCh38:
- Chr4:39268021
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Likely benign
(Aug 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39247034
- GRCh38:
- Chr4:39245414
| WDR19 | I737M, I897M | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Uncertain significance
(Jul 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39259177
- GRCh38:
- Chr4:39257557
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(Jan 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39269730
- GRCh38:
- Chr4:39268110
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Likely benign
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39191261
- GRCh38:
- Chr4:39189641
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Likely benign
(Jan 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39233567
- GRCh38:
- Chr4:39231947
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Likely benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39280144
- GRCh38:
- Chr4:39278524
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Likely benign
(Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39219740
- GRCh38:
- Chr4:39218120
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Likely benign
(Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39233793
- GRCh38:
- Chr4:39232173
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Likely benign
(Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39233824
- GRCh38:
- Chr4:39232204
| WDR19 | F729L, F569L | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(Jan 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39276476
- GRCh38:
- Chr4:39274856
| WDR19 | G1205A, G1045A | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39278776
- GRCh38:
- Chr4:39277156
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Likely benign
(Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39191363
- GRCh38:
- Chr4:39189743
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Likely benign
(Mar 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39271591
- GRCh38:
- Chr4:39269971
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Uncertain significance
(Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39233770
- GRCh38:
- Chr4:39232150
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Uncertain significance
(Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39276446
- GRCh38:
- Chr4:39274826
| WDR19 | T1195M, T1035M | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Uncertain significance
(Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39259149
- GRCh38:
- Chr4:39257529
| WDR19 | V1053A, V893A | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Uncertain significance
(Apr 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39278751
- GRCh38:
- Chr4:39277131
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Likely benign
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39254779
- GRCh38:
- Chr4:39253159
| WDR19 | V915L, V755L | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39216205
- GRCh38:
- Chr4:39214585
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Likely benign
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39219713
- GRCh38:
- Chr4:39218093
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Likely benign
(Sep 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39196147
- GRCh38:
- Chr4:39194527
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Likely benign
(May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39246187
- GRCh38:
- Chr4:39244567
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Likely benign
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39207278
- GRCh38:
- Chr4:39205658
| WDR19 | A271fs, A111fs | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Pathogenic
(May 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39205244
- GRCh38:
- Chr4:39203624
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Likely benign
(Oct 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39280250
- GRCh38:
- Chr4:39278630
| WDR19 | R1177*, R1337* | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Uncertain significance
(Aug 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39207281
- GRCh38:
- Chr4:39205661
| WDR19 | R112H, R272H | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Uncertain significance
(May 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39217501
- GRCh38:
- Chr4:39215881
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Likely benign
(Oct 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39254859
- GRCh38:
- Chr4:39253239
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Likely benign
(Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39205362
- GRCh38:
- Chr4:39203742
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Likely benign
(Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39247024-39247026
- GRCh38:
- Chr4:39245404-39245406
| WDR19 | P735del, P895del | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39276530
- GRCh38:
- Chr4:39274910
| WDR19 | R1063P, R1223P | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(Sep 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39246160
- GRCh38:
- Chr4:39244540
| WDR19 | R878H, R718H | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39241947
- GRCh38:
- Chr4:39240327
| WDR19 | D805V, D645V | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39241888
- GRCh38:
- Chr4:39240268
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Likely benign
(May 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39269728-39269729
- GRCh38:
- Chr4:39268108-39268109
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Likely benign
(Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39226572
- GRCh38:
- Chr4:39224952
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Likely benign
(May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39276595
- GRCh38:
- Chr4:39274975
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Likely benign
(May 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39216216
- GRCh38:
- Chr4:39214596
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Likely benign
(Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39191401
- GRCh38:
- Chr4:39189781
| WDR19 | R97K | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Uncertain significance
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39196205
- GRCh38:
- Chr4:39194585
| WDR19 | F111C | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39219583
- GRCh38:
- Chr4:39217963
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Likely benign
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39276415
- GRCh38:
- Chr4:39274795
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Benign
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39276553
- GRCh38:
- Chr4:39274933
| WDR19 | K1071E, K1231E | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39241914
- GRCh38:
- Chr4:39240294
| WDR19 | A634G, A794G | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39206762
- GRCh38:
- Chr4:39205142
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Likely benign
(Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39267688
- GRCh38:
- Chr4:39266068
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Likely benign
(Apr 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39257584
- GRCh38:
- Chr4:39255964
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(Apr 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39241944
- GRCh38:
- Chr4:39240324
| WDR19 | G804D, G644D | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39207170
- GRCh38:
- Chr4:39205550
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Likely benign
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39187337
- GRCh38:
- Chr4:39185717
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Likely benign
(Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39196261
- GRCh38:
- Chr4:39194641
| WDR19 | R130G | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(Apr 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39218878
- GRCh38:
- Chr4:39217258
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Likely benign
(Mar 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39219590
- GRCh38:
- Chr4:39217970
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Likely benign
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39269607
- GRCh38:
- Chr4:39267987
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Uncertain significance
(Mar 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39218766
- GRCh38:
- Chr4:39217146
| WDR19 | L261W, L421W | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Uncertain significance
(Mar 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39257511
- GRCh38:
- Chr4:39255891
| WDR19 | L855F, L1015F | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Uncertain significance
(Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39230106
- GRCh38:
- Chr4:39228486
| WDR19 | G593E, G433E | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Uncertain significance
(Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39254817
- GRCh38:
- Chr4:39253197
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Likely benign
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39219673
- GRCh38:
- Chr4:39218053
| WDR19 | C316S, C476S | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Uncertain significance
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39201128
- GRCh38:
- Chr4:39199508
| WDR19 | C146Y | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Uncertain significance
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39233399
- GRCh38:
- Chr4:39231779
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5 | Likely benign
(Mar 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39245997
- GRCh38:
- Chr4:39244377
| WDR19 | E851K, E691K | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39254832
- GRCh38:
- Chr4:39253212
| WDR19 | D773fs, D933fs | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Pathogenic
(Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39236437
- GRCh38:
- Chr4:39234817
| WDR19 | L609V, L769V | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39230179
- GRCh38:
- Chr4:39228559
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Likely benign
(Feb 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39206866-39206867
- GRCh38:
- Chr4:39205246-39205247
| WDR19 | V235fs, V75fs | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Pathogenic
(Feb 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39233842
- GRCh38:
- Chr4:39232222
| WDR19 | L575V, L735V | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(Feb 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39229881
- GRCh38:
- Chr4:39228261
| WDR19 | V401I, V561I | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(Feb 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39241880
- GRCh38:
- Chr4:39240260
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Likely benign
(Feb 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39276458
- GRCh38:
- Chr4:39274838
| WDR19 | I1039T, I1199T | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:39206866
- GRCh38:
- Chr4:39205246
| WDR19 | | Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8 | Uncertain significance
(Feb 17, 2022) | criteria provided, single submitter |