| - GRCh37:
- Chr4:170482867-170482868
- GRCh38:
- Chr4:169561716-169561717
| NEK1 | E388fs | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr4:170482689
- GRCh38:
- Chr4:169561538
| NEK1 | R386K, R403K | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170482611-170523781
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170482611-170483367
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely pathogenic
(Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:169433478-170523781
| CBR4, NEK1, PALLD, SH3RF1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Pathogenic
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170321813
- GRCh38:
- Chr4:169400662
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Jun 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170498078
- GRCh38:
- Chr4:169576927
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely pathogenic
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170483016
- GRCh38:
- Chr4:169561865
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170345891
- GRCh38:
- Chr4:169424740
| NEK1 | E1012A, E851A, E967A, E968A, E915A, E940A, E984A | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Aug 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170429434
- GRCh38:
- Chr4:169508283
| NEK1 | R528C, R530C, R555C, R572C, R600C, R503C, R556C | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Aug 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170498059
- GRCh38:
- Chr4:169576908
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170321440
- GRCh38:
- Chr4:169400289
| NEK1 | N1164K, N1261K, N1217K, N1216K, N1100K, N1189K, N1233K | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Feb 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170477226
- GRCh38:
- Chr4:169556075
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170428877
- GRCh38:
- Chr4:169507726
| NEK1 | E634K, E562K, E606K, E537K, E590K, E564K, E589K | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Sep 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170477212
- GRCh38:
- Chr4:169556061
| NEK1 | P392Q, P409Q, P434Q, P417Q | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Jan 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170347332
- GRCh38:
- Chr4:169426181
| NEK1 | S819L, S908L, S883L, S952L, S980L, S936L, S935L | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170345845
- GRCh38:
- Chr4:169424694
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170508723
- GRCh38:
- Chr4:169587572
| NEK1 | T198K | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170477194
- GRCh38:
- Chr4:169556043
| NEK1 | R398Q, R415Q, R440Q, R423Q | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170477073
- GRCh38:
- Chr4:169555922
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Mar 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170511898
- GRCh38:
- Chr4:169590747
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170509863
- GRCh38:
- Chr4:169588712
| NEK1 | C163S | Inborn genetic diseases, Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:170359414
- GRCh38:
- Chr4:169438263
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170510670
- GRCh38:
- Chr4:169589519
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Oct 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170429416
- GRCh38:
- Chr4:169508265
| NEK1 | K561E, K606E, K534E, K536E, K562E, K509E, K578E | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170429432
- GRCh38:
- Chr4:169508281
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170498146
- GRCh38:
- Chr4:169576995
| NEK1 | P318L | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(May 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170321429
- GRCh38:
- Chr4:169400278
| NEK1 | H1104R, H1220R, H1221R, H1193R, H1237R, H1168R, H1265R | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170398386
- GRCh38:
- Chr4:169477235
| NEK1 | H731Y, H678Y, H747Y, H775Y, H673Y, H703Y, H730Y | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170321363
- GRCh38:
- Chr4:169400212
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170477084
- GRCh38:
- Chr4:169555933
| NEK1 | R435G, R460G, R452G, R477G | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Jan 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170327838
- GRCh38:
- Chr4:169406687
| NEK1 | P1051A, P1067A, P998A, P1050A, P1095A, P934A, P1023A | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170428934
- GRCh38:
- Chr4:169507783
| NEK1 | N545D, N518D, N570D, N571D, N587D, N615D, N543D | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170498195
- GRCh38:
- Chr4:169577044
| NEK1 | V302L | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Apr 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170322805
- GRCh38:
- Chr4:169401654
| NEK1 | S1033*, S1097*, S1122*, S1149*, S1150*, S1166*, S1194* | Short-rib thoracic dysplasia 6 with or without polydactyly | Pathogenic
(Apr 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170482711
- GRCh38:
- Chr4:169561560
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170400568
- GRCh38:
- Chr4:169479417
| NEK1 | K637E, K664E, K665E, K607E, K709E, K681E, K612E | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Apr 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170483362
- GRCh38:
- Chr4:169562211
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170345722
- GRCh38:
- Chr4:169424571
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Mar 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170398466
- GRCh38:
- Chr4:169477315
| NEK1 | L704R, L748R, L646R, L676R, L651R, L703R, L720R | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Aug 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170482852
- GRCh38:
- Chr4:169561701
| NEK1 | Q393* | Short-rib thoracic dysplasia 6 with or without polydactyly | Pathogenic
(Sep 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170345840
- GRCh38:
- Chr4:169424689
| NEK1 | Q1001R, Q984R, Q868R, Q957R, Q985R, Q932R, Q1029R | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170400583
- GRCh38:
- Chr4:169479432
| NEK1 | V602I, V607I, V660I, V676I, V659I, V704I, V632I | Inborn genetic diseases, Short-rib thoracic dysplasia 6 with or without polydactyly | Conflicting interpretations of pathogenicity
(Mar 20, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:170476995
- GRCh38:
- Chr4:169555844
| NEK1 | L438V, L480V, L463V | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Feb 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170327786
- GRCh38:
- Chr4:169406635
| NEK1 | D1067G, D1084G, D1040G, D1068G, D1112G, D1015G, D951G | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170482833
- GRCh38:
- Chr4:169561682
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170482613
- GRCh38:
- Chr4:169561462
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(May 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170429380
- GRCh38:
- Chr4:169508229
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170482887
- GRCh38:
- Chr4:169561736
| NEK1 | I381N | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170483285
- GRCh38:
- Chr4:169562134
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170398355
- GRCh38:
- Chr4:169477204
| NEK1 | R688H, R741H, R740H, R683H, R713H, R757H, R785H | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170321779
- GRCh38:
- Chr4:169400628
| NEK1 | S1106C, S1175C, S1042C, S1158C, S1131C, S1159C, S1203C | Inborn genetic diseases, Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Jul 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:170482655
- GRCh38:
- Chr4:169561504
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170398496
- GRCh38:
- Chr4:169477345
| NEK1 | R641Q, R694Q, R636Q, R666Q, R693Q, R710Q, R738Q | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170476955
- GRCh38:
- Chr4:169555804
| NEK1 | G476D, G451D, G493D | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Jun 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170428889
- GRCh38:
- Chr4:169507738
| NEK1 | R558C, R602C, R630C, R533C, R585C, R560C, R586C | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170321451
- GRCh38:
- Chr4:169400300
| NEK1 | I1097V, I1186V, I1214V, I1258V, I1161V, I1230V, I1213V | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170523143
- GRCh38:
- Chr4:169601992
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170400567
- GRCh38:
- Chr4:169479416
| NEK1 | K612R, K709R, K665R, K607R, K637R, K664R, K681R | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170327737
- GRCh38:
- Chr4:169406586
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Benign
(Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170523715
- GRCh38:
- Chr4:169602564
| NEK1 | S23P | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170398399
- GRCh38:
- Chr4:169477248
| NEK1 | E725D, E698D, E742D, E668D, E770D, E673D, E726D | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170502018
- GRCh38:
- Chr4:169580867
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170398515
- GRCh38:
- Chr4:169477364
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170498163
- GRCh38:
- Chr4:169577012
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170322807
- GRCh38:
- Chr4:169401656
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170502019
- GRCh38:
- Chr4:169580868
| NEK1 | S281L | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Dec 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170476913
- GRCh38:
- Chr4:169555762
| NEK1 | L465S, L490S, L507S | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170398662
- GRCh38:
- Chr4:169477511
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170483302
- GRCh38:
- Chr4:169562151
| NEK1 | R356W | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170428846-170428847
- GRCh38:
- Chr4:169507695-169507696
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170384549
- GRCh38:
- Chr4:169463398
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170354785
- GRCh38:
- Chr4:169433634
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Mar 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170506613
- GRCh38:
- Chr4:169585462
| NEK1 | R232C | Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related condition | Uncertain significance
(Sep 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:170476964
- GRCh38:
- Chr4:169555813
| NEK1 | G448E, G473E, G490E | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Aug 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170458991
- GRCh38:
- Chr4:169537840
| NEK1 | M503R, M545R, M476R, M528R, M501R | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Jun 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170511857
- GRCh38:
- Chr4:169590706
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170510685
- GRCh38:
- Chr4:169589534
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170398365
- GRCh38:
- Chr4:169477214
| NEK1 | S710A, S738A, S680A, S685A, S737A, S754A, S782A | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Aug 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170498243
- GRCh38:
- Chr4:169577092
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170429411
- GRCh38:
- Chr4:169508260
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Aug 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170327806
- GRCh38:
- Chr4:169406655
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170345824
- GRCh38:
- Chr4:169424673
| NEK1 | Q989H, Q1034H, Q873H, Q962H, Q937H, Q990H, Q1006H | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170498212
- GRCh38:
- Chr4:169577061
| NEK1 | G296E | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Sep 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170327779
- GRCh38:
- Chr4:169406628
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Feb 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170482880
- GRCh38:
- Chr4:169561729
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(May 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170428954
- GRCh38:
- Chr4:169507803
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170321496
- GRCh38:
- Chr4:169400345
| NEK1 | D1082N, D1146N, D1215N, D1171N, D1198N, D1199N, D1243N | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Jul 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170482830
- GRCh38:
- Chr4:169561679
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Jun 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170482654
- GRCh38:
- Chr4:169561503
| NEK1 | A415T, A398T | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Jun 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170477257
- GRCh38:
- Chr4:169556106
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170321453
- GRCh38:
- Chr4:169400302
| NEK1 | N1160S, N1213S, N1096S, N1257S, N1185S, N1212S, N1229S | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(May 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170359273
- GRCh38:
- Chr4:169438122
| NEK1 | S865T, S881T, S812T, S909T, S837T, S864T | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Jul 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170384476
- GRCh38:
- Chr4:169463325
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170477226
- GRCh38:
- Chr4:169556075
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170482648
- GRCh38:
- Chr4:169561497
| NEK1 | G417R, G400R | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170429479
- GRCh38:
- Chr4:169508328
| NEK1 | Y515H, Y541H, Y557H, Y513H, Y540H, Y585H, Y488H | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170321676
- GRCh38:
- Chr4:169400525
| NEK1 | I1140T, I1192T, I1076T, I1165T, I1209T, I1237T, I1193T | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170498109
- GRCh38:
- Chr4:169576958
| NEK1 | | Short-rib thoracic dysplasia 6 with or without polydactyly | Likely benign
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170327819
- GRCh38:
- Chr4:169406668
| NEK1 | R1004H, R1073H, R940H, R1056H, R1057H, R1029H, R1101H | Short-rib thoracic dysplasia 6 with or without polydactyly | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |