| | EP300 | G1962fs, G1988fs | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr22:41574169
- GRCh38:
- Chr22:41178165
| EP300 | Q2126*, Q2152* | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely pathogenic
(Jul 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41573241-41573242
- GRCh38:
- Chr22:41177237-41177238
| EP300 | Q1817fs, Q1843fs | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Pathogenic
(Nov 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41533743-41533744
- GRCh38:
- Chr22:41137739-41137740
| EP300 | Q570fs | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely pathogenic
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41566441
- GRCh38:
- Chr22:41170437
| EP300 | P1414T, P1440T | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely pathogenic
(Feb 15, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41074407-41489122
| RBX1, SLC25A17, ST13, DNAJB7, MCHR1, XPNPEP3, EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Pathogenic
(Sep 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41558745
- GRCh38:
- Chr22:41162741
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Benign
(May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41572288
- GRCh38:
- Chr22:41176284
| EP300 | A1580V, A1606V | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41513353
- GRCh38:
- Chr22:41117349
| EP300 | R86Q | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Benign
(Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41548328
- GRCh38:
- Chr22:41152324
| LOC126863158, EP300 | P1013L, P1039L | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Benign
(Jun 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41521895
- GRCh38:
- Chr22:41125891
| EP300 | Y253H | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Sep 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41573610
- GRCh38:
- Chr22:41177606
| EP300 | G1940fs, G1966fs | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely pathogenic
(Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41521897
- GRCh38:
- Chr22:41125893
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41536213
- GRCh38:
- Chr22:41140209
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Uncertain significance
(Dec 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41572499
- GRCh38:
- Chr22:41176495
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41546128
- GRCh38:
- Chr22:41150124
| EP300 | R889C, R915C | not provided, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:41573312
- GRCh38:
- Chr22:41177308
| EP300 | P1866L, P1840L | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41565525
- GRCh38:
- Chr22:41169521
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Benign
(Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41536128
- GRCh38:
- Chr22:41140124
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41574732
- GRCh38:
- Chr22:41178728
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41489039
- GRCh38:
- Chr22:41093035
| EP300 | P11S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Benign
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41574897
- GRCh38:
- Chr22:41178893
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41573820
- GRCh38:
- Chr22:41177816
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41545958
- GRCh38:
- Chr22:41149954
| EP300 | T858I, T832I | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41548197
- GRCh38:
- Chr22:41152193
| EP300, LOC126863158 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(May 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41545035
- GRCh38:
- Chr22:41149031
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41573274
- GRCh38:
- Chr22:41177270
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Benign
(Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41547934
- GRCh38:
- Chr22:41151930
| EP300, LOC126863158 | P946L, P972L | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Benign
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41546042
- GRCh38:
- Chr22:41150038
| EP300 | P860R, P886R | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Uncertain significance
(Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41574254
- GRCh38:
- Chr22:41178250
| EP300 | R2154Q, R2180Q | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41569618
- GRCh38:
- Chr22:41173614
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41574117
- GRCh38:
- Chr22:41178113
| EP300 | N2108K, N2134K | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Uncertain significance
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41547848
- GRCh38:
- Chr22:41151844
| EP300, LOC126863158 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Mar 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41573730
- GRCh38:
- Chr22:41177726
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Feb 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41574853
- GRCh38:
- Chr22:41178849
| EP300 | P2354S, P2380S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Uncertain significance
(Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41545890
- GRCh38:
- Chr22:41149886
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Benign
(Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41560130
- GRCh38:
- Chr22:41164126
| EP300 | A1242S, A1268S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Uncertain significance
(Dec 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41574824
- GRCh38:
- Chr22:41178820
| EP300 | N2344S, N2370S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Uncertain significance
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41527558
- GRCh38:
- Chr22:41131554
| EP300 | Q483H | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Benign
(May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41513554
- GRCh38:
- Chr22:41117550
| EP300 | M153T | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41548362
- GRCh38:
- Chr22:41152358
| EP300, LOC126863158 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41574878
- GRCh38:
- Chr22:41178874
| EP300 | A2362V, A2388V | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Jun 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41545027
- GRCh38:
- Chr22:41149023
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41574093
- GRCh38:
- Chr22:41178089
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Benign
(Sep 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41542724
- GRCh38:
- Chr22:41146720
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41573127
- GRCh38:
- Chr22:41177123
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41547829
- GRCh38:
- Chr22:41151825
| EP300, LOC126863158 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Sep 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41554448
- GRCh38:
- Chr22:41158444
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41573434
- GRCh38:
- Chr22:41177430
| EP300 | P1907S, P1881S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Inborn genetic diseases | Uncertain significance
(Dec 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:41542811
- GRCh38:
- Chr22:41146807
| EP300 | P708T | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Uncertain significance
(May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41574827
- GRCh38:
- Chr22:41178823
| EP300 | S2345L, S2371L | Inborn genetic diseases, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Benign/Likely benign
(May 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:41574809
- GRCh38:
- Chr22:41178805
| EP300 | A2339V, A2365V | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41566476
- GRCh38:
- Chr22:41170472
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41574888
- GRCh38:
- Chr22:41178884
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41568497
- GRCh38:
- Chr22:41172493
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41513802
- GRCh38:
- Chr22:41117798
| EP300 | L236M | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Uncertain significance
(Sep 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41547965
- GRCh38:
- Chr22:41151961
| EP300, LOC126863158 | M982I, M956I | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Uncertain significance
(Mar 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41521977
- GRCh38:
- Chr22:41125973
| EP300 | L280P | Inborn genetic diseases, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(May 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:41543892
- GRCh38:
- Chr22:41147888
| EP300 | R702Q, R728Q | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41546186
- GRCh38:
- Chr22:41150182
| EP300 | P934L, P908L | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Benign
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41572803
- GRCh38:
- Chr22:41176799
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41521863
- GRCh38:
- Chr22:41125859
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41572237
- GRCh38:
- Chr22:41176233
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Feb 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41574248
- GRCh38:
- Chr22:41178244
| EP300 | Q2178R, Q2152R | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Uncertain significance
(Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41573694
- GRCh38:
- Chr22:41177690
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Jun 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41543830
- GRCh38:
- Chr22:41147826
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41548350
- GRCh38:
- Chr22:41152346
| EP300, LOC126863158 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41574356
- GRCh38:
- Chr22:41178352
| EP300 | P2188L, P2214L | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Benign
(Jan 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41568661
- GRCh38:
- Chr22:41172657
| EP300 | S1511R, S1537R | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Sep 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41574849
- GRCh38:
- Chr22:41178845
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41543893
- GRCh38:
- Chr22:41147889
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41556729-41556730
- GRCh38:
- Chr22:41160725-41160726
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41551072
- GRCh38:
- Chr22:41155068
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Feb 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41572815
- GRCh38:
- Chr22:41176811
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Sep 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41574728
- GRCh38:
- Chr22:41178724
| EP300 | H2338R, H2312R | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Benign
(Jul 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41521991
- GRCh38:
- Chr22:41125987
| EP300 | S285P | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Benign
(Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41521888
- GRCh38:
- Chr22:41125884
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Benign
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41566566-41566567
- GRCh38:
- Chr22:41170562-41170563
| EP300 | D1482fs, D1456fs | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Pathogenic
(May 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41531805
- GRCh38:
- Chr22:41135801
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41573594-41573595
- GRCh38:
- Chr22:41177590-41177591
| EP300 | P1935fs, P1961fs | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Pathogenic
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41574309
- GRCh38:
- Chr22:41178305
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41573261
- GRCh38:
- Chr22:41177257
| EP300 | S1849F, S1823F | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Uncertain significance
(Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41574703
- GRCh38:
- Chr22:41178699
| EP300 | R2304G, R2330G | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Uncertain significance
(Apr 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41546026
- GRCh38:
- Chr22:41150022
| EP300 | P855S, P881S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Uncertain significance
(Apr 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41556742
- GRCh38:
- Chr22:41160738
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Apr 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41545976
- GRCh38:
- Chr22:41149972
| EP300 | P838L, P864L | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Uncertain significance
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41531841
- GRCh38:
- Chr22:41135837
| EP300 | G518A | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Uncertain significance
(Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41523712
- GRCh38:
- Chr22:41127708
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41537169
- GRCh38:
- Chr22:41141165
| EP300 | P666S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Uncertain significance
(Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41574183
- GRCh38:
- Chr22:41178179
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41566480
- GRCh38:
- Chr22:41170476
| EP300 | P1427T, P1453T | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Uncertain significance
(Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41574611
- GRCh38:
- Chr22:41178607
| EP300 | I2299N, I2273N | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Uncertain significance
(Jun 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41513434
- GRCh38:
- Chr22:41117430
| EP300 | P113L | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41572868
- GRCh38:
- Chr22:41176864
| EP300 | N1718I, N1692I | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Uncertain significance
(Feb 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41543833
- GRCh38:
- Chr22:41147829
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41565522
- GRCh38:
- Chr22:41169518
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41489083
- GRCh38:
- Chr22:41093079
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41573379
- GRCh38:
- Chr22:41177375
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41573880
- GRCh38:
- Chr22:41177876
| EP300 | | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Likely benign
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:41556680
- GRCh38:
- Chr22:41160676
| EP300 | Q1183E, Q1209E | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | Uncertain significance
(Mar 29, 2022) | criteria provided, single submitter |