| - GRCh37:
- Chr22:20792039
- GRCh38:
- Chr22:20437752
| SCARF2 | M1I | Van den Ende-Gupta syndrome | Likely pathogenic
(Dec 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:20786229
- GRCh38:
- Chr22:20431942
| SCARF2 | | Van den Ende-Gupta syndrome | not provided
(Jul 19, 2022) | no assertion provided |
| - GRCh37:
- Chr22:20784814
- GRCh38:
- Chr22:20430527
| SCARF2 | Y368* | Van den Ende-Gupta syndrome | Pathogenic
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:20780082
- GRCh38:
- Chr22:20425795
| SCARF2 | | Van den Ende-Gupta syndrome | Benign
(Jul 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:20780076
- GRCh38:
- Chr22:20425789
| SCARF2 | E729D, E734D | Van den Ende-Gupta syndrome | Benign
(Jul 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:20780018
- GRCh38:
- Chr22:20425729
| SCARF2 | | Van den Ende-Gupta syndrome | Benign
(Jul 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:20780016-20780017
- GRCh38:
- Chr22:20425727-20425728
| SCARF2 | L750fs, L755fs | Van den Ende-Gupta syndrome | Benign
(Jul 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:20780027-20780028
- GRCh38:
- Chr22:20425739-20425740
| SCARF2 | R746fs, R751fs | Van den Ende-Gupta syndrome | Benign
(Jul 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:20779977-20779978
- GRCh38:
- Chr22:20425688-20425689
| SCARF2 | A763fs, A768fs | Van den Ende-Gupta syndrome | Benign
(Jul 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:20783637-20783638
- GRCh38:
- Chr22:20429350-20429351
| SCARF2 | R477fs | Van den Ende-Gupta syndrome | Pathogenic
(Sep 4, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr22:20785682-20785687
- GRCh38:
- Chr22:20431395-20431400
| SCARF2 | | Van den Ende-Gupta syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr22:20785508
- GRCh38:
- Chr22:20431221
| SCARF2 | C217W | Van den Ende-Gupta syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr22:20780285
- GRCh38:
- Chr22:20425998
| SCARF2 | A665S, A660S | Van den Ende-Gupta syndrome, not specified | Uncertain significance
(Dec 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:20780356
- GRCh38:
- Chr22:20426069
| SCARF2 | A636V, A641V | not specified, Van den Ende-Gupta syndrome | Uncertain significance
(Dec 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:20780441
- GRCh38:
- Chr22:20426154
| SCARF2 | S613C, S608C | Van den Ende-Gupta syndrome | Uncertain significance
(Dec 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr22:20792017
- GRCh38:
- Chr22:20437730
| SCARF2 | A9fs | Van den Ende-Gupta syndrome | Likely pathogenic
(Jun 7, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr22:20785135
- GRCh38:
- Chr22:20430848
| SCARF2 | C305W | Van den Ende-Gupta syndrome | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr22:20780296
- GRCh38:
- Chr22:20426009
| SCARF2 | P661L, P656L | not provided, Van den Ende-Gupta syndrome | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:20779822
- GRCh38:
- Chr22:20425532
| SCARF2 | A820G, A815G | not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:20779768
- GRCh38:
- Chr22:20425478
| SCARF2 | A838G, A833G | not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:20785702-20785718
- GRCh38:
- Chr22:20431415-20431431
| SCARF2 | W148fs | Van den Ende-Gupta syndrome | Pathogenic
(May 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr22:20779735
- GRCh38:
- Chr22:20425445
| SCARF2 | Q844fs, Q849fs | Van den Ende-Gupta syndrome | Pathogenic
(May 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr22:20786259
- GRCh38:
- Chr22:20431972
| SCARF2 | C64R | Van den Ende-Gupta syndrome | Pathogenic
(May 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr22:20783918-20783919
- GRCh38:
- Chr22:20429631-20429632
| SCARF2 | V443fs | not provided | Pathogenic
(Jan 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:20785386
- GRCh38:
- Chr22:20431099
| SCARF2 | C258Y | not provided | Likely pathogenic
(Feb 28, 2020) | criteria provided, single submitter |