| - GRCh37:
- ChrX:49103508
- GRCh38:
- ChrX:49247047
| CCDC22 | | Ritscher-Schinzel syndrome 2 | Uncertain significance
(Nov 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:49093692
- GRCh38:
- ChrX:49237225
| CCDC22 | R64G | Ritscher-Schinzel syndrome 2 | Uncertain significance
(Apr 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:49099756
- GRCh38:
- ChrX:49243290
| CCDC22 | R181Q | Ritscher-Schinzel syndrome 2 | Uncertain significance
(Jun 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:49106700
- GRCh38:
- ChrX:49250239
| CCDC22 | L621R | Ritscher-Schinzel syndrome 2 | Uncertain significance
(Apr 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:49104137
- GRCh38:
- ChrX:49247676
| CCDC22 | L334V | Ritscher-Schinzel syndrome 2 | Uncertain significance
(Oct 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:49105347
- GRCh38:
- ChrX:49248886
| CCDC22 | V501M | Ritscher-Schinzel syndrome 2 | Uncertain significance
(Sep 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:49105698
- GRCh38:
- ChrX:49249237
| CCDC22 | A537G | Ritscher-Schinzel syndrome 2 | Uncertain significance
(Sep 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:49099773
- GRCh38:
- ChrX:49243307
| CCDC22 | P187S | Ritscher-Schinzel syndrome 2 | Uncertain significance
(May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:49099372
- GRCh38:
- ChrX:49242906
| CCDC22 | R128W | Ritscher-Schinzel syndrome 2 | Uncertain significance
(Sep 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:49099766
- GRCh38:
- ChrX:49243300
| CCDC22 | Q184H | Ritscher-Schinzel syndrome 2 | Uncertain significance
(Nov 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:49104877
- GRCh38:
- ChrX:49248416
| CCDC22 | E408K | Ritscher-Schinzel syndrome 2 | Uncertain significance
(Mar 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:49106690
- GRCh38:
- ChrX:49250229
| CCDC22 | A618P | Ritscher-Schinzel syndrome 2 | Uncertain significance
(Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:49104110
- GRCh38:
- ChrX:49247649
| CCDC22 | V325F | Inborn genetic diseases, Ritscher-Schinzel syndrome 2 | Uncertain significance
(May 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:49093644
- GRCh38:
- ChrX:49237177
| CCDC22 | A48T | Inborn genetic diseases, Ritscher-Schinzel syndrome 2 | Conflicting interpretations of pathogenicity
(Aug 22, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:49098572
- GRCh38:
- ChrX:49242106
| CCDC22 | R107C | Inborn genetic diseases, Ritscher-Schinzel syndrome 2 | Uncertain significance
(Mar 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:49099836
- GRCh38:
- ChrX:49243370
| CCDC22 | E208K | Ritscher-Schinzel syndrome 2 | Conflicting interpretations of pathogenicity
(Jun 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:49106720
- GRCh38:
- ChrX:49250259
| CCDC22 | | Ritscher-Schinzel syndrome 2 | Uncertain significance
(Aug 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:49092098
- GRCh38:
- ChrX:49235638
| CCDC22 | M1T | Ritscher-Schinzel syndrome 2 | Uncertain significance
(Jan 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:49104775
- GRCh38:
- ChrX:49248314
| CCDC22 | | Ritscher-Schinzel syndrome 2 | Uncertain significance
(Jul 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:49106711
- GRCh38:
- ChrX:49250250
| CCDC22 | R625W | not provided, Ritscher-Schinzel syndrome 2 | Uncertain significance
(Jan 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:49106146
- GRCh38:
- ChrX:49249685
| CCDC22 | T577I | not provided, Ritscher-Schinzel syndrome 2 | Uncertain significance
(Jun 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:49099373
- GRCh38:
- ChrX:49242907
| CCDC22 | R128Q | Ritscher-Schinzel syndrome 2 | Uncertain significance
(Mar 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:49105107
- GRCh38:
- ChrX:49248646
| CCDC22 | R448L | Ritscher-Schinzel syndrome 2 | Uncertain significance
(May 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:49105698
- GRCh38:
- ChrX:49249237
| CCDC22 | A537V | Ritscher-Schinzel syndrome 2 | Uncertain significance
(Jun 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:49093612
- GRCh38:
- ChrX:49237145
| CCDC22 | A37V | Ritscher-Schinzel syndrome 2 | Uncertain significance
(Jun 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:49099629-49099630
- GRCh38:
- ChrX:49243163-49243164
| CCDC22 | P172R | Ritscher-Schinzel syndrome 2 | Uncertain significance
(Jan 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:49105964
- GRCh38:
- ChrX:49249503
| CCDC22 | | Ritscher-Schinzel syndrome 2 | Uncertain significance
(Jul 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:49106705
- GRCh38:
- ChrX:49250244
| CCDC22 | R623W | Ritscher-Schinzel syndrome 2 | Uncertain significance
(Mar 9, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:49105152
- GRCh38:
- ChrX:49248691
| CCDC22 | A463G | Ritscher-Schinzel syndrome 2, not provided | Uncertain significance
(Oct 1, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:49093699
- GRCh38:
- ChrX:49237232
| CCDC22 | R66H | Ritscher-Schinzel syndrome 2 | Uncertain significance
(Apr 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:49105610
- GRCh38:
- ChrX:49249149
| CCDC22 | | Ritscher-Schinzel syndrome 2, not specified | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:49106004
- GRCh38:
- ChrX:49249543
| CCDC22 | Y557C | Ritscher-Schinzel syndrome 2 | Pathogenic
(May 1, 2015) | no assertion criteria provided |
| - GRCh37:
- ChrX:49092145
- GRCh38:
- ChrX:49235685
| CCDC22 | T17A | Ritscher-Schinzel syndrome 2 | Pathogenic
(Jan 1, 2012) | no assertion criteria provided |
| - GRCh37:
- ChrX:49099743
- GRCh38:
- ChrX:49243277
| CCDC22 | | not specified, not provided, Ritscher-Schinzel syndrome 2
| Benign/Likely benign
(Jan 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:49103224
- GRCh38:
- ChrX:49246763
| CCDC22 | | Ritscher-Schinzel syndrome 2, not specified | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:49104943
- GRCh38:
- ChrX:49248482
| CCDC22 | A430T | Ritscher-Schinzel syndrome 2, not specified, not provided
| Benign
(May 18, 2021) | criteria provided, multiple submitters, no conflicts |