| - GRCh37:
- Chr18:42531906
- GRCh38:
- Chr18:44951941
| SETBP1 | S867R | Schinzel-Giedion syndrome | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr18:42643538
- GRCh38:
- Chr18:45063573
| SETBP1 | K1499Q, K1556Q | Schinzel-Giedion syndrome | Uncertain significance
(Oct 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42530117
- GRCh38:
- Chr18:44950152
| SETBP1 | G271E | Intellectual disability, autosomal dominant 29, Schinzel-Giedion syndrome | Uncertain significance
(Jul 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42532327
- GRCh38:
- Chr18:44952362
| SETBP1 | R1008G | Intellectual disability, autosomal dominant 29, Schinzel-Giedion syndrome | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr18:42281355
- GRCh38:
- Chr18:44701390
| SETBP1 | G15D | Schinzel-Giedion syndrome | Uncertain significance
(Nov 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42530363-42530364
- GRCh38:
- Chr18:44950398-44950399
| SETBP1 | D353V | Schinzel-Giedion syndrome, Intellectual disability, autosomal dominant 29, not provided
| Conflicting interpretations of pathogenicity
(Sep 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42531367
- GRCh38:
- Chr18:44951402
| SETBP1 | V688I | Schinzel-Giedion syndrome, Intellectual disability, autosomal dominant 29, not provided
| Benign/Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42532287
- GRCh38:
- Chr18:44952322
| SETBP1 | Y994* | Schinzel-Giedion syndrome | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr18:42281476
- GRCh38:
- Chr18:44701511
| SETBP1 | M55I | not provided, Schinzel-Giedion syndrome | Conflicting interpretations of pathogenicity
(Apr 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42532222
- GRCh38:
- Chr18:44952257
| SETBP1 | S973C | Schinzel-Giedion syndrome, not provided | Uncertain significance
(Aug 29, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42531866
- GRCh38:
- Chr18:44951901
| SETBP1 | S854Y | Schinzel-Giedion syndrome | Likely pathogenic
(Aug 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42530718-42530721
- GRCh38:
- Chr18:44950753-44950756
| SETBP1 | E472fs | Intellectual disability, autosomal dominant 29, Schinzel-Giedion syndrome | Likely pathogenic
(Oct 8, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr18:42643074
- GRCh38:
- Chr18:45063109
| SETBP1 | R1401Q | Schinzel-Giedion syndrome, not provided | Conflicting interpretations of pathogenicity
(Aug 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42533137
- GRCh38:
- Chr18:44953172
| SETBP1 | L1278V | Schinzel-Giedion syndrome, Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Sep 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42531416
- GRCh38:
- Chr18:44951451
| SETBP1 | A704V | Schinzel-Giedion syndrome, not provided | Uncertain significance
(May 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42533267
- GRCh38:
- Chr18:44953302
| SETBP1 | R1321H | not provided, Schinzel-Giedion syndrome | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42531070
- GRCh38:
- Chr18:44951105
| SETBP1 | R589* | not provided | Pathogenic
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42529970
- GRCh38:
- Chr18:44950005
| SETBP1 | W222S | Intellectual disability, autosomal dominant 29, not provided, Schinzel-Giedion syndrome
| Conflicting interpretations of pathogenicity
(Dec 2, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42532239
- GRCh38:
- Chr18:44952274
| SETBP1 | | Schinzel-Giedion syndrome, Intellectual disability, autosomal dominant 29, not provided
| Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42531877
- GRCh38:
- Chr18:44951912
| SETBP1 | E858K | Inborn genetic diseases, Schinzel-Giedion syndrome, See cases,
not provided | Conflicting interpretations of pathogenicity
(Mar 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42531917
- GRCh38:
- Chr18:44951952
| SETBP1 | I871S | Schinzel-Giedion syndrome | Pathogenic
(Feb 25, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr18:42648406
- GRCh38:
- Chr18:45068441
| SETBP1 | | Schinzel-Giedion syndrome | Benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42646976
- GRCh38:
- Chr18:45067011
| SETBP1 | | Schinzel-Giedion syndrome | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42646651
- GRCh38:
- Chr18:45066686
| SETBP1 | | Schinzel-Giedion syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42646634-42646635
- GRCh38:
- Chr18:45066669-45066670
| SETBP1 | | Schinzel-Giedion syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42646634
- GRCh38:
- Chr18:45066669
| SETBP1 | | Schinzel-Giedion syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42646633-42646634
- GRCh38:
- Chr18:45066668-45066669
| SETBP1 | | Schinzel-Giedion syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42645724-42645727
- GRCh38:
- Chr18:45065759-45065762
| SETBP1 | | Schinzel-Giedion syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42645304-42645308
- GRCh38:
- Chr18:45065339-45065343
| SETBP1 | | Schinzel-Giedion syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42645040
- GRCh38:
- Chr18:45065075
| SETBP1 | | Schinzel-Giedion syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42644821
- GRCh38:
- Chr18:45064856
| SETBP1 | | Schinzel-Giedion syndrome | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42644398-42644399
- GRCh38:
- Chr18:45064433-45064434
| SETBP1 | | Schinzel-Giedion syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42532923
- GRCh38:
- Chr18:44952958
| SETBP1 | | Intellectual disability, autosomal dominant 29, Schinzel-Giedion syndrome, not specified,
not provided | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42531663
- GRCh38:
- Chr18:44951698
| SETBP1 | | Schinzel-Giedion syndrome, not provided | Conflicting interpretations of pathogenicity
(Oct 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42530796
- GRCh38:
- Chr18:44950831
| SETBP1 | | Intellectual disability, autosomal dominant 29, Schinzel-Giedion syndrome, not provided,
not specified | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42530342
- GRCh38:
- Chr18:44950377
| SETBP1 | T346I | Intellectual disability, autosomal dominant 29, Schinzel-Giedion syndrome, not provided
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42529990
- GRCh38:
- Chr18:44950025
| SETBP1 | G229R | not provided, Schinzel-Giedion syndrome | Benign/Likely benign
(Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42456670-42456671
- GRCh38:
- Chr18:44876705-44876706
| SETBP1 | T228fs | not specified, Schinzel-Giedion syndrome, not provided
| Benign
(Nov 19, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42260910-42260911
- GRCh38:
- Chr18:44680945-44680946
| SETBP1 | | not provided, Schinzel-Giedion syndrome | Conflicting interpretations of pathogenicity
(Oct 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42531125
- GRCh38:
- Chr18:44951160
| SETBP1 | S608fs | Schinzel-Giedion syndrome | Pathogenic
(Jun 3, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42281357
- GRCh38:
- Chr18:44701392
| SETBP1 | E16K | not provided, Schinzel-Giedion syndrome | Conflicting interpretations of pathogenicity
(Oct 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42643426
- GRCh38:
- Chr18:45063461
| SETBP1 | | Schinzel-Giedion syndrome, not specified, not provided
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42643270
- GRCh38:
- Chr18:45063305
| SETBP1 | E1466D | Schinzel-Giedion syndrome, Intellectual disability, autosomal dominant 29, not provided,
Schinzel-Giedion syndrome | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42533130
- GRCh38:
- Chr18:44953165
| SETBP1 | | Schinzel-Giedion syndrome | Uncertain significance
(Mar 4, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42533130
- GRCh38:
- Chr18:44953165
| SETBP1 | | not provided, not specified, Schinzel-Giedion syndrome,
Intellectual disability, autosomal dominant 29 | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42533130
- GRCh38:
- Chr18:44953165
| SETBP1 | | Schinzel-Giedion syndrome | Uncertain significance
(Mar 4, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr18:42531907
- GRCh38:
- Chr18:44951942
| SETBP1 | D868H | Schinzel-Giedion syndrome | Pathogenic/Likely pathogenic
(Mar 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42531237
- GRCh38:
- Chr18:44951272
| SETBP1 | | Schinzel-Giedion syndrome, not specified, not provided
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42530808
- GRCh38:
- Chr18:44950843
| SETBP1 | | Schinzel-Giedion syndrome, not provided | Conflicting interpretations of pathogenicity
(Jun 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42530528
- GRCh38:
- Chr18:44950563
| SETBP1 | A408G | Schinzel-Giedion syndrome, not provided | Conflicting interpretations of pathogenicity
(Jun 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:42531181
- GRCh38:
- Chr18:44951216
| SETBP1 | R626* | Intellectual disability, autosomal dominant 29, Schinzel-Giedion syndrome, not provided
| Pathogenic
(Oct 31, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42531178
- GRCh38:
- Chr18:44951213
| SETBP1 | R625* | Intellectual disability, autosomal dominant 29, Schinzel-Giedion syndrome, Intellectual disability, autosomal dominant 29,
not provided | Pathogenic
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42531913
- GRCh38:
- Chr18:44951948
| SETBP1 | G870S | not provided, Schinzel-Giedion syndrome | Pathogenic
(Mar 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:42531914
- GRCh38:
- Chr18:44951949
| SETBP1 | G870D | Schinzel-Giedion syndrome | Pathogenic
(Jun 1, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr18:42531908
- GRCh38:
- Chr18:44951943
| SETBP1 | D868A | Schinzel-Giedion syndrome | Pathogenic
(Jun 1, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr18:42531907
- GRCh38:
- Chr18:44951942
| SETBP1 | D868N | Intellectual disability, autosomal dominant 29, Schinzel-Giedion syndrome, Intellectual disability, autosomal dominant 29,
not provided, Schinzel-Giedion syndrome | Pathogenic
(Dec 12, 2022) | 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
(May 15, 2021) | criteria provided, conflicting interpretations |