| - GRCh37:
- Chr13:40293922
- GRCh38:
- Chr13:39719785
| COG6 | | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Likely benign
(May 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40254189
- GRCh38:
- Chr13:39680052
| COG6 | | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Likely benign
(May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40233550
- GRCh38:
- Chr13:39659413
| COG6 | S68N | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Uncertain significance
(Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40268836
- GRCh38:
- Chr13:39694699
| COG6 | | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Likely benign
(Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40325139
- GRCh38:
- Chr13:39751002
| COG6 | Y628C | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Uncertain significance
(Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40293374
- GRCh38:
- Chr13:39719237
| COG6 | V429A | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, not provided
| Uncertain significance
(Jul 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:40256352
- GRCh38:
- Chr13:39682215
| COG6 | V247I | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, Inborn genetic diseases
| Uncertain significance
(Jan 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:40233519
- GRCh38:
- Chr13:39659382
| COG6 | K58E | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Uncertain significance
(Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40261722
- GRCh38:
- Chr13:39687585
| COG6 | G291R | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Uncertain significance
(Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40229887
- GRCh38:
- Chr13:39655750
| COG6 | | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-ongenital disorder of glycosylation | Likely benign
(Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40325195-40325198
- GRCh38:
- Chr13:39751058-39751061
| COG6 | S648fs | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Uncertain significance
(Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40293806
- GRCh38:
- Chr13:39719669
| COG6 | C476R | Inborn genetic diseases, COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
| Uncertain significance
(Nov 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:40256336
- GRCh38:
- Chr13:39682199
| COG6 | | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-ongenital disorder of glycosylation | Likely benign
(Nov 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40261920
- GRCh38:
- Chr13:39687783
| COG6 | | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Likely benign
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40293450
- GRCh38:
- Chr13:39719313
| COG6 | | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Likely benign
(Apr 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40253758
- GRCh38:
- Chr13:39679621
| COG6 | | COG6-ongenital disorder of glycosylation | Uncertain significance
(Jun 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40261951
- GRCh38:
- Chr13:39687814
| COG6 | | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Likely benign
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40297596
- GRCh38:
- Chr13:39723459
| COG6 | | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-ongenital disorder of glycosylation | Likely benign
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40261866
- GRCh38:
- Chr13:39687729
| COG6 | | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Benign
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40233489
- GRCh38:
- Chr13:39659352
| COG6 | | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Likely benign
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40301587
- GRCh38:
- Chr13:39727450
| COG6 | | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-ongenital disorder of glycosylation | Likely benign
(Sep 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40293938
- GRCh38:
- Chr13:39719801
| COG6 | | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-ongenital disorder of glycosylation | Likely benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40229916
- GRCh38:
- Chr13:39655779
| COG6 | N18S | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-ongenital disorder of glycosylation | Uncertain significance
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40261916
- GRCh38:
- Chr13:39687779
| COG6 | L330S | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Uncertain significance
(Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40229889
- GRCh38:
- Chr13:39655752
| COG6 | V9D | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Uncertain significance
(Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40233599
- GRCh38:
- Chr13:39659462
| COG6 | A85fs | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Pathogenic
(Jun 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40251711
- GRCh38:
- Chr13:39677574
| COG6 | T179A | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-ongenital disorder of glycosylation | Uncertain significance
(Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40301688
- GRCh38:
- Chr13:39727551
| COG6 | | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-ongenital disorder of glycosylation | Uncertain significance
(Feb 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40229943
- GRCh38:
- Chr13:39655806
| COG6 | T27S | Inborn genetic diseases, COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
| Uncertain significance
(Jun 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:40268841
- GRCh38:
- Chr13:39694704
| COG6 | K382R | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-ongenital disorder of glycosylation | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40229933
- GRCh38:
- Chr13:39655796
| COG6 | A24S | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-ongenital disorder of glycosylation | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40293864
- GRCh38:
- Chr13:39719727
| COG6 | A495G | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Uncertain significance
(Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40263930
- GRCh38:
- Chr13:39689793
| COG6 | H348R | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-ongenital disorder of glycosylation | Uncertain significance
(Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40261883
- GRCh38:
- Chr13:39687746
| COG6 | T319I | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Uncertain significance
(Jan 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40263908
- GRCh38:
- Chr13:39689771
| COG6 | N341Y | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-ongenital disorder of glycosylation | Uncertain significance
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40261942
- GRCh38:
- Chr13:39687805
| COG6 | | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-ongenital disorder of glycosylation | Uncertain significance
(Nov 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40297468
- GRCh38:
- Chr13:39723331
| COG6 | | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Likely pathogenic
(Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40233691
- GRCh38:
- Chr13:39659554
| COG6 | | not provided, COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
| Benign
(Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:40273713
- GRCh38:
- Chr13:39699576
| COG6 | | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Likely benign
(Dec 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40261908
- GRCh38:
- Chr13:39687771
| COG6 | | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Likely benign
(Apr 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40256411
- GRCh38:
- Chr13:39682274
| COG6 | | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-ongenital disorder of glycosylation | Likely benign
(Jun 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40293445
- GRCh38:
- Chr13:39719308
| COG6 | | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-ongenital disorder of glycosylation | Likely benign
(Feb 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40229989
- GRCh38:
- Chr13:39655852
| COG6 | | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Likely benign
(Apr 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40325147-40325148
- GRCh38:
- Chr13:39751010-39751011
| COG6 | M632fs | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Uncertain significance
(Aug 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40263923
- GRCh38:
- Chr13:39689786
| COG6 | V346I | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-ongenital disorder of glycosylation | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40229982
- GRCh38:
- Chr13:39655845
| COG6 | H40R | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-ongenital disorder of glycosylation | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40256396
- GRCh38:
- Chr13:39682259
| COG6 | L261F | COG6-ongenital disorder of glycosylation | Uncertain significance
(Dec 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40234948
- GRCh38:
- Chr13:39660811
| COG6 | E100V | COG6-ongenital disorder of glycosylation, not provided, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome,
COG6-ongenital disorder of glycosylation | Uncertain significance
(Mar 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:40229958
- GRCh38:
- Chr13:39655821
| COG6 | C32F | COG6-ongenital disorder of glycosylation | Uncertain significance
(Sep 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40256397
- GRCh38:
- Chr13:39682260
| COG6 | Y262H | COG6-ongenital disorder of glycosylation | Uncertain significance
(Jul 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40256308
- GRCh38:
- Chr13:39682171
| COG6 | S232N | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40229872
- GRCh38:
- Chr13:39655735
| COG6 | E3D | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Uncertain significance
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40253690
- GRCh38:
- Chr13:39679553
| COG6 | L186M | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-ongenital disorder of glycosylation | Uncertain significance
(Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40261847
- GRCh38:
- Chr13:39687710
| COG6 | Y307C | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-ongenital disorder of glycosylation | Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40298690
- GRCh38:
- Chr13:39724553
| COG6 | A580T | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-ongenital disorder of glycosylation | Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40325270
- GRCh38:
- Chr13:39751133
| COG6 | | not provided, COG6-ongenital disorder of glycosylation | Conflicting interpretations of pathogenicity
(May 17, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:40325147
- GRCh38:
- Chr13:39751010
| COG6 | V631M | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-ongenital disorder of glycosylation,
Inborn genetic diseases | Uncertain significance
(Apr 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:40301669
- GRCh38:
- Chr13:39727532
| COG6 | | COG6-ongenital disorder of glycosylation | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40253736
- GRCh38:
- Chr13:39679599
| COG6 | R201L | COG6-ongenital disorder of glycosylation | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40235022
- GRCh38:
- Chr13:39660885
| COG6 | | COG6-ongenital disorder of glycosylation | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40326738
- GRCh38:
- Chr13:39752601
| COG6 | | COG6-ongenital disorder of glycosylation | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40326478
- GRCh38:
- Chr13:39752341
| COG6 | | COG6-ongenital disorder of glycosylation | Uncertain significance
(Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40326471
- GRCh38:
- Chr13:39752334
| COG6 | | COG6-ongenital disorder of glycosylation | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40326411
- GRCh38:
- Chr13:39752274
| COG6 | | COG6-ongenital disorder of glycosylation | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40293485
- GRCh38:
- Chr13:39719348
| COG6 | R466H | COG6-ongenital disorder of glycosylation | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40229949
- GRCh38:
- Chr13:39655812
| COG6 | A29V | COG6-ongenital disorder of glycosylation | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40229820
- GRCh38:
- Chr13:39655683
| COG6 | | COG6-ongenital disorder of glycosylation | Uncertain significance
(Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40326323
- GRCh38:
- Chr13:39752186
| COG6 | | COG6-ongenital disorder of glycosylation | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40326231
- GRCh38:
- Chr13:39752094
| COG6 | | COG6-ongenital disorder of glycosylation | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40326217
- GRCh38:
- Chr13:39752080
| COG6 | | COG6-ongenital disorder of glycosylation | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40326119
- GRCh38:
- Chr13:39751982
| COG6 | | COG6-ongenital disorder of glycosylation | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40326119
- GRCh38:
- Chr13:39751982
| COG6 | | COG6-ongenital disorder of glycosylation | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40325950
- GRCh38:
- Chr13:39751813
| COG6 | | COG6-ongenital disorder of glycosylation | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40273734
- GRCh38:
- Chr13:39699597
| COG6 | | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-ongenital disorder of glycosylation, COG6-ongenital disorder of glycosylation
| Conflicting interpretations of pathogenicity
(Mar 28, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:40273707
- GRCh38:
- Chr13:39699570
| COG6 | | COG6-ongenital disorder of glycosylation | Uncertain significance
(Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40268831
- GRCh38:
- Chr13:39694694
| COG6 | N379H | COG6-ongenital disorder of glycosylation | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40229814
- GRCh38:
- Chr13:39655677
| COG6 | | COG6-ongenital disorder of glycosylation | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40261885
- GRCh38:
- Chr13:39687748
| COG6 | A320T | COG6-ongenital disorder of glycosylation | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40261772
- GRCh38:
- Chr13:39687635
| COG6 | | COG6-ongenital disorder of glycosylation | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40261686
- GRCh38:
- Chr13:39687549
| COG6 | R279C | COG6-ongenital disorder of glycosylation | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40261648
- GRCh38:
- Chr13:39687511
| COG6 | L266S | COG6-ongenital disorder of glycosylation | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40325785
- GRCh38:
- Chr13:39751648
| COG6 | | COG6-ongenital disorder of glycosylation | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40325582
- GRCh38:
- Chr13:39751445
| COG6 | | COG6-ongenital disorder of glycosylation | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40325379
- GRCh38:
- Chr13:39751242
| COG6 | | COG6-ongenital disorder of glycosylation | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40325359
- GRCh38:
- Chr13:39751222
| COG6 | | COG6-ongenital disorder of glycosylation | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40325316
- GRCh38:
- Chr13:39751179
| COG6 | | COG6-ongenital disorder of glycosylation | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40261719
- GRCh38:
- Chr13:39687582
| COG6 | P290S | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Uncertain significance
(Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40261702
- GRCh38:
- Chr13:39687565
| COG6 | A284V | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-ongenital disorder of glycosylation | Uncertain significance
(Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40233502
- GRCh38:
- Chr13:39659365
| COG6 | E52G | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-ongenital disorder of glycosylation | Uncertain significance
(Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40273718
- GRCh38:
- Chr13:39699581
| COG6 | N416S | Inborn genetic diseases, COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
| Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:40293503
- GRCh38:
- Chr13:39719366
| COG6 | Q472R | Inborn genetic diseases, COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
| Uncertain significance
(Feb 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:40251716
- GRCh38:
- Chr13:39677579
| COG6 | | COG6-ongenital disorder of glycosylation | Likely pathogenic
(May 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40256339
- GRCh38:
- Chr13:39682202
| COG6 | C242fs | COG6-ongenital disorder of glycosylation | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr13:40233499
- GRCh38:
- Chr13:39659362
| COG6 | | COG6-ongenital disorder of glycosylation | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40263958
- GRCh38:
- Chr13:39689821
| COG6 | | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Likely benign
(Oct 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40297530
- GRCh38:
- Chr13:39723393
| COG6 | G549C | COG6-ongenital disorder of glycosylation, not provided, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome,
COG6-ongenital disorder of glycosylation | Conflicting interpretations of pathogenicity
(Oct 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:40293456
- GRCh38:
- Chr13:39719319
| COG6 | | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Likely benign
(Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40229947
- GRCh38:
- Chr13:39655810
| COG6 | | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-ongenital disorder of glycosylation | Likely benign
(Jun 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40234952
- GRCh38:
- Chr13:39660815
| COG6 | | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Likely benign
(Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr13:40234985
- GRCh38:
- Chr13:39660848
| COG6 | | COG6-ongenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | Likely benign
(Sep 12, 2022) | criteria provided, single submitter |