| - GRCh37:
- Chr14:100742948
- GRCh38:
- Chr14:100276611
| YY1 | R342Q | Gabriele de Vries syndrome | Uncertain significance
(Nov 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr14:100743884
- GRCh38:
- Chr14:100277547
| YY1 | T398A | Gabriele de Vries syndrome | Likely pathogenic
(Sep 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr14:100743794
- GRCh38:
- Chr14:100277457
| YY1 | F368L | Gabriele de Vries syndrome | Likely pathogenic
(May 8, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr14:100706038-100706056
- GRCh38:
- Chr14:100239701-100239719
| YY1 | V153fs | Gabriele de Vries syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr14:100743804
- GRCh38:
- Chr14:100277467
| YY1 | R371H | Gabriele de Vries syndrome | Likely pathogenic
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:100705775
- GRCh38:
- Chr14:100239438
| YY1 | H65R | Inborn genetic diseases, Gabriele de Vries syndrome, not provided
| Conflicting interpretations of pathogenicity
(Jun 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:100705739-100705756
- GRCh38:
- Chr14:100239402-100239419
| YY1 | | Gabriele de Vries syndrome, not provided | Conflicting interpretations of pathogenicity
(May 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:100705769
- GRCh38:
- Chr14:100239432
| YY1 | G63D | Gabriele de Vries syndrome | Uncertain significance
(Feb 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:100705747
- GRCh38:
- Chr14:100239410
| YY1 | G56S | Gabriele de Vries syndrome | Uncertain significance
(Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:100742980
- GRCh38:
- Chr14:100276643
| YY1 | F353L | Gabriele de Vries syndrome | Likely pathogenic
(Nov 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:100706011
- GRCh38:
- Chr14:100239674
| YY1 | D144N | Gabriele de Vries syndrome | Uncertain significance
(Apr 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:100742985
- GRCh38:
- Chr14:100276648
| YY1 | | Gabriele de Vries syndrome | Likely pathogenic
(Dec 1, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr14:100742959
- GRCh38:
- Chr14:100276622
| YY1 | V346F | Gabriele de Vries syndrome | Likely pathogenic
(Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:100742986
- GRCh38:
- Chr14:100276649
| YY1 | | Gabriele de Vries syndrome | Pathogenic
(Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:100743813
- GRCh38:
- Chr14:100277476
| YY1 | V374G | Gabriele de Vries syndrome | Likely pathogenic
(Aug 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:100706189
- GRCh38:
- Chr14:100239852
| YY1 | K203R | Gabriele de Vries syndrome | Uncertain significance
(Apr 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:100706095
- GRCh38:
- Chr14:100239758
| LOC130056453, YY1 | V172F | Gabriele de Vries syndrome | Uncertain significance
(Dec 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:100743798
- GRCh38:
- Chr14:100277461
| YY1 | N369S | Gabriele de Vries syndrome, Intellectual disability | Conflicting interpretations of pathogenicity
(May 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:100728644
- GRCh38:
- Chr14:100262307
| YY1 | D231fs | Gabriele de Vries syndrome | Pathogenic
(Jan 14, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr14:100742955
- GRCh38:
- Chr14:100276618
| YY1 | | Gabriele de Vries syndrome | Uncertain significance
(Feb 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:100706108
- GRCh38:
- Chr14:100239771
| LOC130056453, YY1 | G176D | Gabriele de Vries syndrome | Likely pathogenic
(Dec 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr14:100705577
- GRCh38:
- Chr14:100239240
| LOC130056452, YY1 | | Gabriele de Vries syndrome | Uncertain significance
(Mar 5, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr14:100706143
- GRCh38:
- Chr14:100239806
| YY1 | G188S | Gabriele de Vries syndrome | Uncertain significance
(Feb 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr14:100705783
- GRCh38:
- Chr14:100239446
| YY1 | A68T | Gabriele de Vries syndrome | Uncertain significance
(Sep 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr14:100743810
- GRCh38:
- Chr14:100277473
| YY1 | H373R | Gabriele de Vries syndrome | Likely pathogenic
(Jul 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr14:100705787-100705788
- GRCh38:
- Chr14:100239450-100239451
| YY1 | | not provided, Gabriele de Vries syndrome | Conflicting interpretations of pathogenicity
(Aug 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:100317190-101012999
| EML1, YY1, SLC25A29, BEGAIN, EVL, WARS1, SLC25A47, WDR25, DEGS2 | | Gabriele de Vries syndrome | Pathogenic
(Oct 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:100706116
- GRCh38:
- Chr14:100239779
| LOC130056453, YY1 | K179* | Gabriele de Vries syndrome | Pathogenic
(Jul 7, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr14:100742953
- GRCh38:
- Chr14:100276616
| YY1 | Q344* | Gabriele de Vries syndrome | Pathogenic
(Jul 7, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr14:100743788
- GRCh38:
- Chr14:100277451
| YY1 | L366V | Gabriele de Vries syndrome | Pathogenic
(Aug 17, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr14:100743789
- GRCh38:
- Chr14:100277452
| YY1 | L366P | Gabriele de Vries syndrome | Pathogenic
(Aug 17, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr14:100743830
- GRCh38:
- Chr14:100277493
| YY1 | D380Y | Gabriele de Vries syndrome | Pathogenic
(Dec 1, 2010) | no assertion criteria provided |