| - GRCh37:
- Chr18:31319984-31319985
- GRCh38:
- Chr18:33740020-33740021
| ASXL3 | E873fs | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Likely pathogenic
(Jul 13, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31325225
- GRCh38:
- Chr18:33745261
| ASXL3 | P1805fs | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Likely pathogenic
(Apr 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31318793-31318794
- GRCh38:
- Chr18:33738829-33738830
| ASXL3 | S477fs | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr18:31320319
- GRCh38:
- Chr18:33740355
| ASXL3 | D984G | Inborn genetic diseases | Likely benign
(May 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31322888
- GRCh38:
- Chr18:33742924
| ASXL3 | K1026* | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Pathogenic
(Sep 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31318947
- GRCh38:
- Chr18:33738983
| ASXL3 | Q527* | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Likely pathogenic
(Apr 1, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr18:31324436
- GRCh38:
- Chr18:33744472
| ASXL3 | A1542fs | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Likely pathogenic
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31318742-31318743
- GRCh38:
- Chr18:33738778-33738779
| ASXL3 | E459fs | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Likely pathogenic
(May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31319084
- GRCh38:
- Chr18:33739120
| ASXL3 | I572M | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Sep 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31226234
- GRCh38:
- Chr18:33646270
| ASXL3 | D91G | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Apr 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31319959-31319965
- GRCh38:
- Chr18:33739995-33740001
| ASXL3 | | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Dec 4, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31314300
- GRCh38:
- Chr18:33734336
| ASXL3 | R335W | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Dec 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31325666
- GRCh38:
- Chr18:33745702
| ASXL3 | S1952P | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31319136
- GRCh38:
- Chr18:33739172
| ASXL3 | I590V | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Dec 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31326398
- GRCh38:
- Chr18:33746434
| ASXL3 | P2196A | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Oct 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31241618
- GRCh38:
- Chr18:33661654
| ASXL3 | | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Apr 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31324302
- GRCh38:
- Chr18:33744338
| ASXL3 | S1497T | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Jan 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31324040
- GRCh38:
- Chr18:33744076
| ASXL3 | H1410Y | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31324756
- GRCh38:
- Chr18:33744792
| ASXL3 | N1648K | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Dec 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31324716
- GRCh38:
- Chr18:33744752
| ASXL3 | E1635G | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Sep 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31324886-31324888
- GRCh38:
- Chr18:33744922-33744924
| ASXL3 | P1694del | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Nov 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31326063
- GRCh38:
- Chr18:33746099
| ASXL3 | L2084P | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31251756
- GRCh38:
- Chr18:33671792
| ASXL3 | M214T | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Dec 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31241688
- GRCh38:
- Chr18:33661724
| ASXL3 | K155R | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(May 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31324077
- GRCh38:
- Chr18:33744113
| ASXL3 | T1422K | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Oct 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31323823
- GRCh38:
- Chr18:33743859
| ASXL3 | Q1337H | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Aug 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31323338
- GRCh38:
- Chr18:33743374
| ASXL3 | R1176W | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Jun 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31325280
- GRCh38:
- Chr18:33745316
| ASXL3 | R1823L | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Sep 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31326178
- GRCh38:
- Chr18:33746214
| ASXL3 | F2122L | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Jun 4, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31158631
- GRCh38:
- Chr18:33578667
| ASXL3 | W12* | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Likely pathogenic
(Dec 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31318716
- GRCh38:
- Chr18:33738752
| ASXL3 | I450F | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31323323
- GRCh38:
- Chr18:33743359
| ASXL3 | K1171* | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Likely pathogenic
(Sep 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31318613
- GRCh38:
- Chr18:33738649
| ASXL3 | E415D | not provided, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Feb 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31318996-31318997
- GRCh38:
- Chr18:33739032-33739033
| ASXL3 | L543fs | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Pathogenic
(Nov 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31319329-31319330
- GRCh38:
- Chr18:33739365-33739366
| ASXL3 | | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Pathogenic
(Jan 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31311951-31311960
- GRCh38:
- Chr18:33731987-33731996
| ASXL3 | R301fs | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Pathogenic
(Jan 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31323005
- GRCh38:
- Chr18:33743041
| ASXL3 | R1065W | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Inborn genetic diseases | Uncertain significance
(Oct 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31324165
- GRCh38:
- Chr18:33744201
| ASXL3 | K1452fs | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Likely pathogenic
(Nov 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31319358
- GRCh38:
- Chr18:33739394
| ASXL3 | Q664* | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr18:31323245
- GRCh38:
- Chr18:33743281
| ASXL3 | S1145P | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Jun 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31318786-31318787
- GRCh38:
- Chr18:33738822-33738823
| ASXL3 | P474fs | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Pathogenic
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31323702-31323703
- GRCh38:
- Chr18:33743738-33743739
| ASXL3 | C1299fs | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Likely pathogenic
(Nov 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31314356
- GRCh38:
- Chr18:33734392
| ASXL3 | F353L | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Feb 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31323086-31323087
- GRCh38:
- Chr18:33743122-33743123
| ASXL3 | G1094fs | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Pathogenic
(Aug 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31319221
- GRCh38:
- Chr18:33739257
| ASXL3 | P618L | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31324701-31324704
- GRCh38:
- Chr18:33744737-33744740
| ASXL3 | K1631fs | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Pathogenic
(Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31326494-31326495
- GRCh38:
- Chr18:33746530-33746531
| ASXL3 | C2230fs | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Likely pathogenic
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31318611
- GRCh38:
- Chr18:33738647
| ASXL3 | E415* | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Likely pathogenic
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31325121
- GRCh38:
- Chr18:33745157
| ASXL3 | G1770E | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Oct 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31325279
- GRCh38:
- Chr18:33745315
| ASXL3 | R1823* | not provided, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Pathogenic/Likely pathogenic
(Mar 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31323619
- GRCh38:
- Chr18:33743655
| ASXL3 | S1269R | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Likely pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31319370
- GRCh38:
- Chr18:33739406
| ASXL3 | T668fs | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Likely pathogenic
(Apr 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31323251-31323252
- GRCh38:
- Chr18:33743287-33743288
| ASXL3 | | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Pathogenic
(Aug 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31326147
- GRCh38:
- Chr18:33746183
| ASXL3 | L2112* | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Jul 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31324638
- GRCh38:
- Chr18:33744674
| ASXL3 | W1609* | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Pathogenic
(May 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31324657
- GRCh38:
- Chr18:33744693
| ASXL3 | R1615S | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Inborn genetic diseases, not specified
| Conflicting interpretations of pathogenicity
(Aug 10, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:31325610
- GRCh38:
- Chr18:33745646
| ASXL3 | Q1933R | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Nov 22, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31320408
- GRCh38:
- Chr18:33740444
| ASXL3 | | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Pathogenic
(Aug 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31324277
- GRCh38:
- Chr18:33744313
| ASXL3 | V1489L | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Apr 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31319266
- GRCh38:
- Chr18:33739302
| ASXL3 | Q633L | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Apr 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31323866
- GRCh38:
- Chr18:33743902
| ASXL3 | N1352D | not provided, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Conflicting interpretations of pathogenicity
(May 13, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:31319527-31319528
- GRCh38:
- Chr18:33739563-33739564
| ASXL3 | D721* | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Likely pathogenic
(Mar 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31319032-31319033
- GRCh38:
- Chr18:33739068-33739069
| ASXL3 | T556fs | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Pathogenic
(Aug 22, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31323559-31323560
- GRCh38:
- Chr18:33743595-33743596
| ASXL3 | H1252fs | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Pathogenic
(Apr 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31324711
- GRCh38:
- Chr18:33744747
| ASXL3 | Y1633* | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Pathogenic
(Oct 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31318770
- GRCh38:
- Chr18:33738806
| ASXL3 | E468* | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Likely pathogenic
(Oct 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31324215
- GRCh38:
- Chr18:33744251
| ASXL3 | S1468* | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Likely pathogenic
(Oct 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31319231-31319232
- GRCh38:
- Chr18:33739267-33739268
| ASXL3 | C622fs | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Pathogenic
(Oct 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31318637
- GRCh38:
- Chr18:33738673
| ASXL3 | C423* | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Pathogenic
(Oct 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31251835
- GRCh38:
- Chr18:33671871
| ASXL3 | | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Likely pathogenic
(Sep 13, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr18:31322949-31322956
- GRCh38:
- Chr18:33742985-33742992
| ASXL3 | G1046fs | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Pathogenic
(Oct 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31318989
- GRCh38:
- Chr18:33739025
| ASXL3 | D541N | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Inborn genetic diseases | Likely benign
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31325888-31325893
- GRCh38:
- Chr18:33745924-33745929
| ASXL3 | | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Conflicting interpretations of pathogenicity
(Dec 21, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:31320169
- GRCh38:
- Chr18:33740205
| ASXL3 | L934* | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Likely pathogenic
(Nov 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31318376
- GRCh38:
- Chr18:33738412
| ASXL3 | | not provided, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31224915
- GRCh38:
- Chr18:33644951
| ASXL3 | | not provided, not specified, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
| Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31314389
- GRCh38:
- Chr18:33734425
| ASXL3 | | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, not provided | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31319079
- GRCh38:
- Chr18:33739115
| ASXL3 | | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Likely pathogenic
(Feb 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31323163-31323164
- GRCh38:
- Chr18:33743199-33743200
| ASXL3 | A1118fs | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Likely pathogenic
(Nov 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr18:31314196
- GRCh38:
- Chr18:33734232
| ASXL3 | | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, not provided | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31187706
- GRCh38:
- Chr18:33607742
| ASXL3 | | not provided, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31322974
- GRCh38:
- Chr18:33743010
| ASXL3 | | not specified, not provided, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
| Benign/Likely benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31323277
- GRCh38:
- Chr18:33743313
| ASXL3 | | not specified, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, not provided
| Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31323848
- GRCh38:
- Chr18:33743884
| ASXL3 | I1346V | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, not provided | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31320099
- GRCh38:
- Chr18:33740135
| ASXL3 | V911M | not provided, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, not specified
| Benign
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31319258
- GRCh38:
- Chr18:33739294
| ASXL3 | | not specified, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, not provided
| Benign/Likely benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31324813
- GRCh38:
- Chr18:33744849
| ASXL3 | | not specified, not provided, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
| Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31250673
- GRCh38:
- Chr18:33670709
| ASXL3 | S172P | not specified, not provided, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
| Benign/Likely benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31319363
- GRCh38:
- Chr18:33739399
| ASXL3 | | not provided, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Benign/Likely benign
(May 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31326415
- GRCh38:
- Chr18:33746451
| ASXL3 | | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, not provided | Likely benign
(Apr 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31323367
- GRCh38:
- Chr18:33743403
| ASXL3 | | not specified, not provided, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
| Benign/Likely benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31320229
- GRCh38:
- Chr18:33740265
| ASXL3 | N954S | not provided, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31312106
- GRCh38:
- Chr18:33732142
| ASXL3 | | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, not provided | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31263320
- GRCh38:
- Chr18:33683356
| ASXL3 | | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, not provided | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31241497
- GRCh38:
- Chr18:33661533
| ASXL3 | | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, not provided | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31225030
- GRCh38:
- Chr18:33645066
| ASXL3 | | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, not provided | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31324629
- GRCh38:
- Chr18:33744665
| ASXL3 | R1606Q | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, not provided | Benign/Likely benign
(Feb 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31320369
- GRCh38:
- Chr18:33740405
| ASXL3 | Q1001* | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, not provided | Pathogenic/Likely pathogenic
(Jan 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31325803
- GRCh38:
- Chr18:33745839
| ASXL3 | | not specified, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, not provided
| Benign/Likely benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:31320360
- GRCh38:
- Chr18:33740396
| ASXL3 | E998K | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | Uncertain significance
(Jun 26, 2020) | criteria provided, single submitter |