| - GRCh37:
- Chr9:131708619
- GRCh38:
- Chr9:128946340
| DOLK | R322G | DK1-congenital disorder of glycosylation | Uncertain significance
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708078
- GRCh38:
- Chr9:128945799
| DOLK | S502T | DK1-congenital disorder of glycosylation | Uncertain significance
(Mar 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708478
- GRCh38:
- Chr9:128946199
| DOLK | V369I | DK1-congenital disorder of glycosylation | Uncertain significance
(Mar 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708058
- GRCh38:
- Chr9:128945779
| DOLK | S509A | DK1-congenital disorder of glycosylation | Uncertain significance
(May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709383
- GRCh38:
- Chr9:128947104
| DOLK | G67E | DK1-congenital disorder of glycosylation, Cardiovascular phenotype | Uncertain significance
(Dec 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:131708694
- GRCh38:
- Chr9:128946415
| DOLK | R297C | DK1-congenital disorder of glycosylation | Uncertain significance
(Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708544
- GRCh38:
- Chr9:128946265
| DOLK | T347A | DK1-congenital disorder of glycosylation | Uncertain significance
(Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709474
- GRCh38:
- Chr9:128947195
| DOLK | T37P | DK1-congenital disorder of glycosylation | Uncertain significance
(Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708555
- GRCh38:
- Chr9:128946276
| DOLK | I343T | DK1-congenital disorder of glycosylation | Uncertain significance
(Dec 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131707967
- GRCh38:
- Chr9:128945688
| DOLK | | DK1-congenital disorder of glycosylation | Uncertain significance
(Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709527
- GRCh38:
- Chr9:128947248
| DOLK | S19L | DK1-congenital disorder of glycosylation | Uncertain significance
(Dec 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708012
- GRCh38:
- Chr9:128945733
| DOLK | D524V | DK1-congenital disorder of glycosylation | Uncertain significance
(May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708413
- GRCh38:
- Chr9:128946134
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709465
- GRCh38:
- Chr9:128947186
| DOLK | D40N | DK1-congenital disorder of glycosylation | Uncertain significance
(Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708501
- GRCh38:
- Chr9:128946222
| DOLK | V361A | DK1-congenital disorder of glycosylation | Uncertain significance
(Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708612
- GRCh38:
- Chr9:128946333
| DOLK | S324F | DK1-congenital disorder of glycosylation | Uncertain significance
(Feb 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709470
- GRCh38:
- Chr9:128947191
| DOLK | V38A | DK1-congenital disorder of glycosylation | Uncertain significance
(May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708251
- GRCh38:
- Chr9:128945972
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708188
- GRCh38:
- Chr9:128945909
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708388
- GRCh38:
- Chr9:128946109
| DOLK | R399G | DK1-congenital disorder of glycosylation | Uncertain significance
(Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708127
- GRCh38:
- Chr9:128945848
| DOLK | S486T | DK1-congenital disorder of glycosylation | Uncertain significance
(Jan 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709043
- GRCh38:
- Chr9:128946764
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708009
- GRCh38:
- Chr9:128945730
| DOLK | N525S | DK1-congenital disorder of glycosylation | Uncertain significance
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708480
- GRCh38:
- Chr9:128946201
| DOLK | A368V | DK1-congenital disorder of glycosylation | Uncertain significance
(Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708693
- GRCh38:
- Chr9:128946414
| DOLK | R297H | DK1-congenital disorder of glycosylation | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708390
- GRCh38:
- Chr9:128946111
| DOLK | E398G | DK1-congenital disorder of glycosylation | Uncertain significance
(May 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708494
- GRCh38:
- Chr9:128946215
| DOLK | | DK1-congenital disorder of glycosylation | Uncertain significance
(Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708220
- GRCh38:
- Chr9:128945941
| DOLK | S455T | DK1-congenital disorder of glycosylation | Uncertain significance
(Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708802
- GRCh38:
- Chr9:128946523
| DOLK | L261I | DK1-congenital disorder of glycosylation | Uncertain significance
(Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131707987
- GRCh38:
- Chr9:128945708
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709137
- GRCh38:
- Chr9:128946858
| DOLK | G149D | DK1-congenital disorder of glycosylation | Uncertain significance
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709106
- GRCh38:
- Chr9:128946827
| DOLK | L159F | DK1-congenital disorder of glycosylation | Uncertain significance
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708719
- GRCh38:
- Chr9:128946440
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709270
- GRCh38:
- Chr9:128946991
| DOLK | P105S | DK1-congenital disorder of glycosylation | Uncertain significance
(Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709251
- GRCh38:
- Chr9:128946972
| DOLK | G111D | DK1-congenital disorder of glycosylation | Uncertain significance
(Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708020
- GRCh38:
- Chr9:128945741
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708538
- GRCh38:
- Chr9:128946259
| DOLK | I349L | DK1-congenital disorder of glycosylation | Uncertain significance
(Feb 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708990-131708991
- GRCh38:
- Chr9:128946711-128946712
| DOLK | L198fs | DK1-congenital disorder of glycosylation | Uncertain significance
(Feb 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708642
- GRCh38:
- Chr9:128946363
| DOLK | V314A | DK1-congenital disorder of glycosylation | Uncertain significance
(Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709522
- GRCh38:
- Chr9:128947243
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Feb 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708845
- GRCh38:
- Chr9:128946566
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Feb 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709568
- GRCh38:
- Chr9:128947289
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Feb 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708325-131708326
- GRCh38:
- Chr9:128946046-128946047
| DOLK | I419fs | DK1-congenital disorder of glycosylation | Uncertain significance
(Apr 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708176
- GRCh38:
- Chr9:128945897
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Jan 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708627
- GRCh38:
- Chr9:128946348
| DOLK | N319S | DK1-congenital disorder of glycosylation | Uncertain significance
(Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709150
- GRCh38:
- Chr9:128946871
| DOLK | G145C | DK1-congenital disorder of glycosylation | Uncertain significance
(Mar 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708512
- GRCh38:
- Chr9:128946233
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(May 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709392
- GRCh38:
- Chr9:128947113
| DOLK | L64P | DK1-congenital disorder of glycosylation | Uncertain significance
(Jan 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708190
- GRCh38:
- Chr9:128945911
| DOLK | R465C | DK1-congenital disorder of glycosylation | Uncertain significance
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709024
- GRCh38:
- Chr9:128946745
| DOLK | R187C | DK1-congenital disorder of glycosylation | Uncertain significance
(Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709442
- GRCh38:
- Chr9:128947163
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Jan 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708272-131708281
- GRCh38:
- Chr9:128945993-128946002
| DOLK | A435fs | DK1-congenital disorder of glycosylation | Uncertain significance
(Jan 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131707980
- GRCh38:
- Chr9:128945701
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709485
- GRCh38:
- Chr9:128947206
| DOLK | S33I | DK1-congenital disorder of glycosylation | Uncertain significance
(Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709487
- GRCh38:
- Chr9:128947208
| DOLK | | DK1-congenital disorder of glycosylation | Uncertain significance
(Aug 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708301
- GRCh38:
- Chr9:128946022
| DOLK | Q428fs | DK1-congenital disorder of glycosylation | Uncertain significance
(Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709253
- GRCh38:
- Chr9:128946974
| DOLK | F110L | DK1-congenital disorder of glycosylation | Uncertain significance
(Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131707977
- GRCh38:
- Chr9:128945698
| DOLK | L536V | DK1-congenital disorder of glycosylation | Uncertain significance
(Jul 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708235
- GRCh38:
- Chr9:128945956
| DOLK | G450S | DK1-congenital disorder of glycosylation | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708155-131708156
- GRCh38:
- Chr9:128945876-128945877
| DOLK | T476I | DK1-congenital disorder of glycosylation | Uncertain significance
(Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708443
- GRCh38:
- Chr9:128946164
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131707983
- GRCh38:
- Chr9:128945704
| DOLK | I534V | DK1-congenital disorder of glycosylation | Uncertain significance
(May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709067
- GRCh38:
- Chr9:128946788
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708007
- GRCh38:
- Chr9:128945728
| DOLK | L526F | DK1-congenital disorder of glycosylation | Uncertain significance
(May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708749
- GRCh38:
- Chr9:128946470
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709322
- GRCh38:
- Chr9:128947043
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Mar 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708047
- GRCh38:
- Chr9:128945768
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709061-131709081
- GRCh38:
- Chr9:128946782-128946802
| DOLK | | DK1-congenital disorder of glycosylation | Uncertain significance
(May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708236-131708237
- GRCh38:
- Chr9:128945957-128945958
| DOLK | | DK1-congenital disorder of glycosylation | Uncertain significance
(May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709557
- GRCh38:
- Chr9:128947278
| DOLK | A9V | DK1-congenital disorder of glycosylation | Uncertain significance
(Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709278
- GRCh38:
- Chr9:128946999
| DOLK | A102G | DK1-congenital disorder of glycosylation | Uncertain significance
(Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708783
- GRCh38:
- Chr9:128946504
| DOLK | S267I | DK1-congenital disorder of glycosylation | Uncertain significance
(Nov 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709216
- GRCh38:
- Chr9:128946937
| DOLK | L123F | DK1-congenital disorder of glycosylation | Uncertain significance
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708618
- GRCh38:
- Chr9:128946339
| DOLK | R322Q | DK1-congenital disorder of glycosylation | Uncertain significance
(Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708881
- GRCh38:
- Chr9:128946602
| DOLK | M234I | DK1-congenital disorder of glycosylation | Uncertain significance
(Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709183
- GRCh38:
- Chr9:128946904
| DOLK | R134C | DK1-congenital disorder of glycosylation | Uncertain significance
(Mar 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709306
- GRCh38:
- Chr9:128947027
| DOLK | L93V | DK1-congenital disorder of glycosylation, Cardiovascular phenotype | Uncertain significance
(Jul 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:131708517
- GRCh38:
- Chr9:128946238
| DOLK | R356W | DK1-congenital disorder of glycosylation, Cardiovascular phenotype | Uncertain significance
(Jul 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:131708263
- GRCh38:
- Chr9:128945984
| DOLK | | DK1-congenital disorder of glycosylation, Cardiovascular phenotype | Likely benign
(Jul 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:131708840
- GRCh38:
- Chr9:128946561
| DOLK | M248T | DK1-congenital disorder of glycosylation, Cardiovascular phenotype | Uncertain significance
(Sep 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:131708851
- GRCh38:
- Chr9:128946572
| DOLK | | Cardiovascular phenotype, DK1-congenital disorder of glycosylation | Likely benign
(Mar 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:131709524
- GRCh38:
- Chr9:128947245
| DOLK | V20G | DK1-congenital disorder of glycosylation, Cardiovascular phenotype | Uncertain significance
(Apr 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:131709034
- GRCh38:
- Chr9:128946755
| DOLK | | DK1-congenital disorder of glycosylation, Cardiovascular phenotype | Likely benign
(Jul 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:131709193
- GRCh38:
- Chr9:128946914
| DOLK | | DK1-congenital disorder of glycosylation, Cardiovascular phenotype | Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:131709063
- GRCh38:
- Chr9:128946784
| DOLK | F174L | DK1-congenital disorder of glycosylation | Uncertain significance
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708256
- GRCh38:
- Chr9:128945977
| DOLK | G443S | not provided, DK1-congenital disorder of glycosylation | Uncertain significance
(Jun 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:131708407
- GRCh38:
- Chr9:128946128
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Dec 22, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708659
- GRCh38:
- Chr9:128946380
| DOLK | | Cardiovascular phenotype, DK1-congenital disorder of glycosylation | Likely benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:131709061
- GRCh38:
- Chr9:128946782
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Dec 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708416
- GRCh38:
- Chr9:128946137
| DOLK | | Cardiovascular phenotype, DK1-congenital disorder of glycosylation | Likely benign
(May 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:131708257
- GRCh38:
- Chr9:128945978
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708767
- GRCh38:
- Chr9:128946488
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709049
- GRCh38:
- Chr9:128946770
| DOLK | | Cardiovascular phenotype, DK1-congenital disorder of glycosylation | Likely benign
(Jun 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:131708740
- GRCh38:
- Chr9:128946461
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708884
- GRCh38:
- Chr9:128946605
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708890
- GRCh38:
- Chr9:128946611
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Oct 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709244
- GRCh38:
- Chr9:128946965
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Sep 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131708677
- GRCh38:
- Chr9:128946398
| DOLK | | Cardiovascular phenotype, DK1-congenital disorder of glycosylation | Likely benign
(Mar 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:131709538
- GRCh38:
- Chr9:128947259
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Nov 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:131709489
- GRCh38:
- Chr9:128947210
| DOLK | | DK1-congenital disorder of glycosylation | Likely benign
(Oct 9, 2022) | criteria provided, single submitter |