| - GRCh37:
- Chr3:119134321
- GRCh38:
- Chr3:119415474
| ARHGAP31 | S1182N | Adams-Oliver syndrome 1 | Uncertain significance
(May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:119133999
- GRCh38:
- Chr3:119415152
| ARHGAP31 | V1075M | Adams-Oliver syndrome 1 | Uncertain significance
(Apr 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:119118102
- GRCh38:
- Chr3:119399255
| ARHGAP31 | V355L | Adams-Oliver syndrome 1 | Uncertain significance
(Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:119120875
- GRCh38:
- Chr3:119402028
| ARHGAP31 | R426G | Adams-Oliver syndrome 1 | Uncertain significance
(Jan 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:119101189
- GRCh38:
- Chr3:119382342
| ARHGAP31 | S161T | Adams-Oliver syndrome 1 | Uncertain significance
(Sep 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:119135065
- GRCh38:
- Chr3:119416218
| ARHGAP31 | R1430Q | Adams-Oliver syndrome 1 | Uncertain significance
(Nov 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:119120944
- GRCh38:
- Chr3:119402097
| ARHGAP31 | K449E | Adams-Oliver syndrome 1, not provided | Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119134474
- GRCh38:
- Chr3:119415627
| ARHGAP31 | Q1233L | not provided, Adams-Oliver syndrome 1 | Uncertain significance
(Jan 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119133975
- GRCh38:
- Chr3:119415128
| ARHGAP31 | S1067G | Adams-Oliver syndrome 1 | Uncertain significance
(Aug 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:119121086
- GRCh38:
- Chr3:119402239
| ARHGAP31 | L496P | Adams-Oliver syndrome 1 | Uncertain significance
(Oct 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:119133247
- GRCh38:
- Chr3:119414400
| ARHGAP31 | S824F | Adams-Oliver syndrome 1 | Uncertain significance
(Jul 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:119134372
- GRCh38:
- Chr3:119415525
| ARHGAP31 | A1199V | not provided, Adams-Oliver syndrome 1, Inborn genetic diseases
| Conflicting interpretations of pathogenicity
(Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:119109637
- GRCh38:
- Chr3:119390790
| ARHGAP31 | R230W | not provided, Adams-Oliver syndrome 1 | Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119134023
- GRCh38:
- Chr3:119415176
| ARHGAP31 | E1083K | Adams-Oliver syndrome 1 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr3:119101989
- GRCh38:
- Chr3:119383142
| ARHGAP31 | V200I | not provided, Adams-Oliver syndrome 1 | Uncertain significance
(Apr 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119128712
- GRCh38:
- Chr3:119409865
| ARHGAP31 | | not provided, Adams-Oliver syndrome 1 | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119013928
- GRCh38:
- Chr3:119295081
| ARHGAP31 | | Adams-Oliver syndrome 1, not provided | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119101039
- GRCh38:
- Chr3:119382192
| ARHGAP31 | | not provided, Adams-Oliver syndrome 1 | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119120577
- GRCh38:
- Chr3:119401730
| ARHGAP31 | | not provided, Adams-Oliver syndrome 1 | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119102092
- GRCh38:
- Chr3:119383245
| ARHGAP31 | | Adams-Oliver syndrome 1, not provided | Benign
(Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119109694
- GRCh38:
- Chr3:119390847
| ARHGAP31 | S249G | Adams-Oliver syndrome 1 | Uncertain significance
(Jan 22, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:119133783
- GRCh38:
- Chr3:119414936
| ARHGAP31 | A1003T | Adams-Oliver syndrome 1 | Uncertain significance
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:119084204
- GRCh38:
- Chr3:119365357
| ARHGAP31 | H48Y | Adams-Oliver syndrome 1, not provided | Uncertain significance
(Dec 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119133187
- GRCh38:
- Chr3:119414340
| ARHGAP31 | P804Q | Adams-Oliver syndrome 1 | Uncertain significance
(Jan 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:119121196
- GRCh38:
- Chr3:119402349
| ARHGAP31 | G533R | not provided, Adams-Oliver syndrome 1 | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119134915
- GRCh38:
- Chr3:119416068
| ARHGAP31 | T1380I | Adams-Oliver syndrome 1 | Likely benign
(Apr 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:119132958
- GRCh38:
- Chr3:119414111
| ARHGAP31 | Q728* | Adams-Oliver syndrome 1 | Pathogenic
(Dec 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:11328056
- GRCh38:
- Chr19:11217380
| DOCK6 | Q1188*, Q1223* | not provided, Adams-Oliver syndrome 1 | Likely pathogenic
(Aug 14, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119134391
- GRCh38:
- Chr3:119415544
| ARHGAP31 | | not provided, Adams-Oliver syndrome 1 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119134032
- GRCh38:
- Chr3:119415185
| ARHGAP31 | A1086T | Adams-Oliver syndrome 1, not provided | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119133554
- GRCh38:
- Chr3:119414707
| ARHGAP31 | | Adams-Oliver syndrome 1, not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119133183
- GRCh38:
- Chr3:119414336
| ARHGAP31 | G803S | not specified, not provided, Adams-Oliver syndrome 1
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119133135
- GRCh38:
- Chr3:119414288
| ARHGAP31 | P787A | Adams-Oliver syndrome 1, not specified, not provided
| Benign/Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119128634
- GRCh38:
- Chr3:119409787
| ARHGAP31 | | not provided, Adams-Oliver syndrome 1 | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119128628
- GRCh38:
- Chr3:119409781
| ARHGAP31 | | not provided, not specified, Adams-Oliver syndrome 1
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119128398
- GRCh38:
- Chr3:119409551
| ARHGAP31 | | Adams-Oliver syndrome 1, not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119128397
- GRCh38:
- Chr3:119409550
| ARHGAP31 | P567L | Adams-Oliver syndrome 1, not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119121213
- GRCh38:
- Chr3:119402366
| ARHGAP31 | | not provided, Adams-Oliver syndrome 1 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119121132
- GRCh38:
- Chr3:119402285
| ARHGAP31 | | not provided, Adams-Oliver syndrome 1 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119121090
- GRCh38:
- Chr3:119402243
| ARHGAP31 | | not provided, Adams-Oliver syndrome 1 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119109837
- GRCh38:
- Chr3:119390990
| ARHGAP31 | | not provided, Adams-Oliver syndrome 1 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119101925
- GRCh38:
- Chr3:119383078
| ARHGAP31 | | Adams-Oliver syndrome 1, not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119101132
- GRCh38:
- Chr3:119382285
| ARHGAP31 | | not provided, Adams-Oliver syndrome 1 | Benign/Likely benign
(Oct 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119099786
- GRCh38:
- Chr3:119380939
| ARHGAP31 | | not provided, Adams-Oliver syndrome 1 | Benign/Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119013714
- GRCh38:
- Chr3:119294867
| ARHGAP31 | | Adams-Oliver syndrome 1, not provided | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119133099
- GRCh38:
- Chr3:119414252
| ARHGAP31 | G775S | not provided, Adams-Oliver syndrome 1 | Conflicting interpretations of pathogenicity
(May 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:119102045
- GRCh38:
- Chr3:119383198
| ARHGAP31 | | not specified, not provided, Adams-Oliver syndrome 1
| Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119121217
- GRCh38:
- Chr3:119402370
| ARHGAP31 | K540E | not specified, not provided, Adams-Oliver syndrome 1
| Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119134872
- GRCh38:
- Chr3:119416025
| ARHGAP31 | V1366M | not specified, not provided, Adams-Oliver syndrome 1
| Benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119133140
- GRCh38:
- Chr3:119414293
| ARHGAP31 | | not provided, Adams-Oliver syndrome 1, not specified
| Benign/Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119112368
- GRCh38:
- Chr3:119393521
| ARHGAP31 | | not specified, not provided, Adams-Oliver syndrome 1
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119099744
- GRCh38:
- Chr3:119380897
| ARHGAP31 | | not specified, not provided, Adams-Oliver syndrome 1
| Benign/Likely benign
(Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119109769
- GRCh38:
- Chr3:119390922
| ARHGAP31 | P274S | not specified, Adams-Oliver syndrome 1, not provided
| Benign/Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:119134034
- GRCh38:
- Chr3:119415187
| ARHGAP31 | K1087fs | Adams-Oliver syndrome 1 | Pathogenic
(May 13, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr3:119132823
- GRCh38:
- Chr3:119413976
| ARHGAP31 | Q683* | Adams-Oliver syndrome 1 | Pathogenic
(May 13, 2011) | no assertion criteria provided |