| - GRCh37:
- Chr18:42643200
- GRCh38:
- Chr18:45063235
| SETBP1 | S1386*, S1443* | Intellectual disability, autosomal dominant 29 | Likely pathogenic
(Nov 24, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr18:42532357
- GRCh38:
- Chr18:44952392
| SETBP1 | K1018Q | Intellectual disability, autosomal dominant 29 | Uncertain significance
(Nov 24, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr18:42531466
- GRCh38:
- Chr18:44951501
| SETBP1 | I721V | Intellectual disability, autosomal dominant 29 | Uncertain significance
(Nov 24, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr18:42533107
- GRCh38:
- Chr18:44953142
| SETBP1 | G1268W | Intellectual disability, autosomal dominant 29 | Likely pathogenic
(Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42643310
- GRCh38:
- Chr18:45063345
| SETBP1 | D1423N, D1480N | Intellectual disability, autosomal dominant 29, Schinzel-Giedion syndrome | Uncertain significance
(Jul 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42532117
- GRCh38:
- Chr18:44952152
| SETBP1 | H938fs | Intellectual disability, autosomal dominant 29 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr18:42533078
- GRCh38:
- Chr18:44953113
| SETBP1 | S1258L | Intellectual disability, autosomal dominant 29 | Uncertain significance
(Jun 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42533030
- GRCh38:
- Chr18:44953065
| SETBP1 | W1242* | Intellectual disability, autosomal dominant 29 | Likely pathogenic
(Feb 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42531869
- GRCh38:
- Chr18:44951904
| SETBP1 | P855L | Intellectual disability, autosomal dominant 29 | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr18:42533214
- GRCh38:
- Chr18:44953249
| SETBP1 | Y1303* | Intellectual disability, autosomal dominant 29 | Likely pathogenic
(Dec 1, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr18:42530893
- GRCh38:
- Chr18:44950928
| SETBP1 | R530* | Developmental disorder | Pathogenic
(Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42532565
- GRCh38:
- Chr18:44952600
| SETBP1 | R1087K | Intellectual disability, autosomal dominant 29, not provided | Uncertain significance
(Mar 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42531387-42531388
- GRCh38:
- Chr18:44951422-44951423
| SETBP1 | E697fs | Intellectual disability, autosomal dominant 29 | Pathogenic
(Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42529927
- GRCh38:
- Chr18:44949962
| SETBP1 | P208fs | Intellectual disability, autosomal dominant 29 | Pathogenic
(Mar 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42532289
- GRCh38:
- Chr18:44952324
| SETBP1 | P995L | Intellectual disability, autosomal dominant 29 | Likely pathogenic
(Nov 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42532979-42532984
- GRCh38:
- Chr18:44953014-44953019
| SETBP1 | | Intellectual disability, autosomal dominant 29 | Uncertain significance
(Mar 1, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr18:42533242
- GRCh38:
- Chr18:44953277
| SETBP1 | D1313H | Intellectual disability, autosomal dominant 29 | Likely benign
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42530117
- GRCh38:
- Chr18:44950152
| SETBP1 | G271E | Schinzel-Giedion syndrome, Intellectual disability, autosomal dominant 29 | Uncertain significance
(Jul 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42531052
- GRCh38:
- Chr18:44951087
| SETBP1 | V583I | Intellectual disability, autosomal dominant 29, not provided | Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42281738
- GRCh38:
- Chr18:44701773
| SETBP1 | R143C | not provided, Intellectual disability, autosomal dominant 29 | Uncertain significance
(Jul 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42532046
- GRCh38:
- Chr18:44952081
| SETBP1 | R914Q | Intellectual disability, autosomal dominant 29, not provided, SETBP1-related condition
| Conflicting interpretations of pathogenicity
(Sep 25, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42532147
- GRCh38:
- Chr18:44952182
| SETBP1 | R948C | Intellectual disability, autosomal dominant 29, not provided | Conflicting interpretations of pathogenicity
(Jul 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42532327
- GRCh38:
- Chr18:44952362
| SETBP1 | R1008G | Schinzel-Giedion syndrome, Intellectual disability, autosomal dominant 29 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr18:42532786
- GRCh38:
- Chr18:44952821
| SETBP1 | D1161Y | Intellectual disability, autosomal dominant 29 | Uncertain significance
(Oct 8, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42643145
- GRCh38:
- Chr18:45063180
| SETBP1 | K1425* | Intellectual disability, autosomal dominant 29 | Likely pathogenic
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42531595
- GRCh38:
- Chr18:44951630
| SETBP1 | N764D | Intellectual disability, autosomal dominant 29 | Uncertain significance
(Dec 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42533035-42533036
- GRCh38:
- Chr18:44953070-44953071
| SETBP1 | A1245fs | Intellectual disability, autosomal dominant 29 | Pathogenic
(Oct 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42531868
- GRCh38:
- Chr18:44951903
| SETBP1 | P855T | Schinzel-Giedion syndrome, Intellectual disability, autosomal dominant 29, not provided
| Conflicting interpretations of pathogenicity
(Jul 28, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42529937
- GRCh38:
- Chr18:44949972
| SETBP1 | Q211fs | Intellectual disability, autosomal dominant 29 | Pathogenic
(Oct 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42530363-42530364
- GRCh38:
- Chr18:44950398-44950399
| SETBP1 | D353V | Intellectual disability, autosomal dominant 29, Schinzel-Giedion syndrome, not provided
| Conflicting interpretations of pathogenicity
(Sep 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42531367
- GRCh38:
- Chr18:44951402
| SETBP1 | V688I | not provided, Intellectual disability, autosomal dominant 29, Schinzel-Giedion syndrome
| Benign/Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42531082
- GRCh38:
- Chr18:44951117
| SETBP1 | Q593* | Intellectual disability, autosomal dominant 29 | Pathogenic
(May 13, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr18:42532184
- GRCh38:
- Chr18:44952219
| SETBP1 | L960R | Intellectual disability, autosomal dominant 29 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr18:42531295
- GRCh38:
- Chr18:44951330
| SETBP1 | K664E | Intellectual disability, autosomal dominant 29 | Uncertain significance
(Dec 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42531215
- GRCh38:
- Chr18:44951250
| SETBP1 | P637Q | not provided, Intellectual disability, autosomal dominant 29 | Conflicting interpretations of pathogenicity
(Oct 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42530446
- GRCh38:
- Chr18:44950481
| SETBP1 | S381A | Intellectual disability, autosomal dominant 29 | Uncertain significance
(Jul 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42643640
- GRCh38:
- Chr18:45063675
| SETBP1 | S1590C | Intellectual disability, autosomal dominant 29 | Uncertain significance
(Sep 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42532384
- GRCh38:
- Chr18:44952419
| SETBP1 | D1027H | Intellectual disability, autosomal dominant 29 | Uncertain significance
(May 5, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42530548
- GRCh38:
- Chr18:44950583
| SETBP1 | N415Y | not provided, Intellectual disability, autosomal dominant 29 | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42530718-42530721
- GRCh38:
- Chr18:44950753-44950756
| SETBP1 | E472fs | Schinzel-Giedion syndrome, Intellectual disability, autosomal dominant 29 | Likely pathogenic
(Oct 8, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr18:42643660-42643670
- GRCh38:
- Chr18:45063695-45063705
| SETBP1 | | Intellectual disability, autosomal dominant 29 | Likely pathogenic
(Mar 2, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr18:42531866
- GRCh38:
- Chr18:44951901
| SETBP1 | S854F | not provided | Uncertain significance
(Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42532804
- GRCh38:
- Chr18:44952839
| SETBP1 | H1167N | Intellectual disability, autosomal dominant 29 | Uncertain significance
(Oct 15, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr18:42532175
- GRCh38:
- Chr18:44952210
| SETBP1 | L957P | Intellectual disability, autosomal dominant 29 | Uncertain significance
(Oct 15, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr18:42532741
- GRCh38:
- Chr18:44952776
| SETBP1 | R1146W | not provided | Uncertain significance
(May 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42532004
- GRCh38:
- Chr18:44952039
| SETBP1 | D900G | Intellectual disability, autosomal dominant 29 | Uncertain significance
(Feb 18, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr18:42531926
- GRCh38:
- Chr18:44951961
| SETBP1 | D874G | Intellectual disability, autosomal dominant 29 | Pathogenic
(Dec 8, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr18:42530981-42530982
- GRCh38:
- Chr18:44951016-44951017
| SETBP1 | P563fs | Intellectual disability, autosomal dominant 29 | Likely pathogenic
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42530386-42530387
- GRCh38:
- Chr18:44950421-44950422
| SETBP1 | F362fs | Intellectual disability, autosomal dominant 29 | Pathogenic
(Mar 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42530495
- GRCh38:
- Chr18:44950530
| SETBP1 | S397* | Intellectual disability, autosomal dominant 29 | Pathogenic
(Jan 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr18:42281350-42281351
- GRCh38:
- Chr18:44701385-44701386
| SETBP1 | E16fs | Intellectual disability, autosomal dominant 29, not provided | Pathogenic
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42532503
- GRCh38:
- Chr18:44952538
| SETBP1 | Y1066* | Intellectual disability, autosomal dominant 29 | Pathogenic
(Oct 30, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42281789
- GRCh38:
- Chr18:44701824
| SETBP1 | K160E | Intellectual disability, autosomal dominant 29, not provided | Uncertain significance
(Sep 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42532646
- GRCh38:
- Chr18:44952681
| SETBP1 | G1114A | Intellectual disability, autosomal dominant 29 | Uncertain significance
(Apr 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42529889
- GRCh38:
- Chr18:44949924
| SETBP1 | T195M | not provided, Intellectual disability, autosomal dominant 29 | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42531730
- GRCh38:
- Chr18:44951765
| SETBP1 | Q809* | Intellectual disability, autosomal dominant 29 | Pathogenic
(Jun 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42532898
- GRCh38:
- Chr18:44952933
| SETBP1 | P1198L | Intellectual disability, autosomal dominant 29, not provided | Conflicting interpretations of pathogenicity
(Sep 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42532360
- GRCh38:
- Chr18:44952395
| SETBP1 | R1019C | Intellectual disability, autosomal dominant 29, not provided | Conflicting interpretations of pathogenicity
(Oct 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42530935
- GRCh38:
- Chr18:44950970
| SETBP1 | R544* | Intellectual disability, autosomal dominant 29, not provided | Pathogenic
(May 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42531070
- GRCh38:
- Chr18:44951105
| SETBP1 | R589* | not provided | Pathogenic
(Apr 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42281576
- GRCh38:
- Chr18:44701611
| SETBP1 | Q89* | not provided | Pathogenic
(Sep 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42529971
- GRCh38:
- Chr18:44950006
| SETBP1 | W222* | Intellectual disability, autosomal dominant 29, not provided | Pathogenic
(Jul 27, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42529970
- GRCh38:
- Chr18:44950005
| SETBP1 | W222S | Intellectual disability, autosomal dominant 29, Schinzel-Giedion syndrome, not provided
| Conflicting interpretations of pathogenicity
(Dec 2, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42532239
- GRCh38:
- Chr18:44952274
| SETBP1 | | not provided, Schinzel-Giedion syndrome, Intellectual disability, autosomal dominant 29
| Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42618609
- GRCh38:
- Chr18:45038644
| SETBP1 | T1387M | not provided, Delayed speech and language development, Seizure,
Macrocephaly, Generalized joint laxity, Joint laxity,
Intellectual disability, autosomal dominant 29 | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42531877
- GRCh38:
- Chr18:44951912
| SETBP1 | E858K | Schinzel-Giedion syndrome, Inborn genetic diseases, not provided,
See cases | Conflicting interpretations of pathogenicity
(Jul 29, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42530710
- GRCh38:
- Chr18:44950745
| SETBP1 | | Inborn genetic diseases, not provided | Pathogenic
(Jul 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42530126
- GRCh38:
- Chr18:44950161
| SETBP1 | W274* | not provided | Pathogenic
(Nov 14, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42449194
- GRCh38:
- Chr18:44869229
| SETBP1 | | Intellectual disability, autosomal dominant 29, not provided | Conflicting interpretations of pathogenicity
(Aug 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42531321-42531322
- GRCh38:
- Chr18:44951356-44951357
| SETBP1 | K673* | Intellectual disability, autosomal dominant 29 | Pathogenic
(Nov 19, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42532923
- GRCh38:
- Chr18:44952958
| SETBP1 | | Intellectual disability, autosomal dominant 29, Schinzel-Giedion syndrome, not specified,
Schinzel-Giedion syndrome, not provided | Benign/Likely benign
(Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42530796
- GRCh38:
- Chr18:44950831
| SETBP1 | | Schinzel-Giedion syndrome, Schinzel-Giedion syndrome, Intellectual disability, autosomal dominant 29,
not specified, not provided | Benign/Likely benign
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42530342
- GRCh38:
- Chr18:44950377
| SETBP1 | T346I | Intellectual disability, autosomal dominant 29, Schinzel-Giedion syndrome, not provided,
Schinzel-Giedion syndrome | Benign/Likely benign
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42530873
- GRCh38:
- Chr18:44950908
| SETBP1 | H523fs | not provided | Pathogenic
(Oct 4, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42531125
- GRCh38:
- Chr18:44951160
| SETBP1 | S608fs | Schinzel-Giedion syndrome | Pathogenic
(Jun 3, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42643270
- GRCh38:
- Chr18:45063305
| SETBP1 | E1466D | Schinzel-Giedion syndrome, Intellectual disability, autosomal dominant 29, not provided,
Schinzel-Giedion syndrome | Benign/Likely benign
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42533130
- GRCh38:
- Chr18:44953165
| SETBP1 | | Intellectual disability, autosomal dominant 29, not specified, not provided,
Schinzel-Giedion syndrome | Benign
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42531181
- GRCh38:
- Chr18:44951216
| SETBP1 | R626* | not provided, Intellectual disability, autosomal dominant 29, Schinzel-Giedion syndrome
| Pathogenic
(Oct 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42531178
- GRCh38:
- Chr18:44951213
| SETBP1 | R625* | Intellectual disability, autosomal dominant 29, not provided, Intellectual disability, autosomal dominant 29,
Schinzel-Giedion syndrome | Pathogenic
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42281738
- GRCh38:
- Chr18:44701771
| SETBP1 | R143fs | Intellectual disability, autosomal dominant 29 | Pathogenic
(Oct 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr18:42532337
- GRCh38:
- Chr18:44952372
| SETBP1 | S1011* | Intellectual disability, autosomal dominant 29 | Pathogenic
(Oct 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr18:42530901
- GRCh38:
- Chr18:44950936
| SETBP1 | W532* | Intellectual disability, autosomal dominant 29 | Pathogenic
(Oct 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr18:42531769
- GRCh38:
- Chr18:44951803
| SETBP1 | I822fs | Intellectual disability, autosomal dominant 29 | Pathogenic
(Oct 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr18:42531907
- GRCh38:
- Chr18:44951942
| SETBP1 | D868N | Schinzel-Giedion syndrome, Intellectual disability, autosomal dominant 29, Intellectual disability, autosomal dominant 29,
not provided, SETBP1-related condition, Schinzel-Giedion syndrome
| Pathogenic
(Sep 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42531917
- GRCh38:
- Chr18:44951952
| SETBP1 | I871T | Intellectual disability, autosomal dominant 29, not provided, Schinzel-Giedion syndrome,
Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita | Conflicting interpretations of pathogenicity
(Jun 23, 2023) | criteria provided, conflicting interpretations |