| - GRCh37:
- Chr1:149897778
- GRCh38:
- Chr1:149925886
| SF3B4 | H288R | Nager syndrome | Uncertain significance
(Oct 8, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:149898557
- GRCh38:
- Chr1:149926665
| SF3B4 | | Nager syndrome | Pathogenic
(Jan 16, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:149899069
- GRCh38:
- Chr1:149927177
| SF3B4 | G51V | Nager syndrome | Uncertain significance
(Dec 1, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr1:149897925
- GRCh38:
- Chr1:149926033
| SF3B4 | P239L | Nager syndrome | Uncertain significance
(Jun 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:149899187
- GRCh38:
- Chr1:149927295
| SF3B4 | | Nager syndrome | Pathogenic
(Sep 18, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:149899650
- GRCh38:
- Chr1:149927758
| SF3B4 | M1T | Nager syndrome | Pathogenic
(Mar 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:149897860-149897878
- GRCh38:
- Chr1:149925968-149925986
| SF3B4 | P255fs | Nager syndrome | Pathogenic
(Mar 10, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr1:149899913-149899914
- GRCh38:
- Chr1:149928021-149928022
| SF3B4 | | Nager syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:149897906
- GRCh38:
- Chr1:149926014
| SF3B4 | | Nager syndrome, not provided | Benign/Likely benign
(Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:149897898-149897910
- GRCh38:
- Chr1:149926006-149926018
| SF3B4 | P244fs | Nager syndrome | Pathogenic
(Aug 6, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr1:149899175-149899176
- GRCh38:
- Chr1:149927283-149927284
| SF3B4 | Y16fs | Nager syndrome | Pathogenic
(Dec 26, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr1:149898781
- GRCh38:
- Chr1:149926889
| SF3B4 | E65* | Nager syndrome | Pathogenic
(Nov 25, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr1:149895460-149895479
- GRCh38:
- Chr1:149923568-149923587
| SF3B4 | P411fs | Nager syndrome, Malar flattening, Micrognathia,
Midface retrusion, Stenosis of the external auditory canal | Pathogenic
(Mar 15, 2016) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:149899133
- GRCh38:
- Chr1:149927241
| SF3B4 | W30fs | Nager syndrome | Pathogenic
(Sep 7, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:149898522
- GRCh38:
- Chr1:149926630
| SF3B4 | S151* | Nager syndrome | Pathogenic
(Sep 7, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:149898349
- GRCh38:
- Chr1:149926457
| SF3B4 | Q209* | Nager syndrome | Pathogenic
(Sep 7, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:149898309-149898310
- GRCh38:
- Chr1:149926417-149926418
| SF3B4 | N222fs | Nager syndrome | Pathogenic
(Sep 7, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:149897872
- GRCh38:
- Chr1:149925980
| SF3B4 | I257fs | Nager syndrome | Pathogenic
(Sep 7, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:149897844-149897845
- GRCh38:
- Chr1:149925952-149925953
| SF3B4 | M266fs | Nager syndrome | Pathogenic
(Sep 7, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:149897813-149897814
- GRCh38:
- Chr1:149925921-149925922
| SF3B4 | S277fs | Nager syndrome | Pathogenic
(Sep 7, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:149897804-149897805
- GRCh38:
- Chr1:149925912-149925913
| SF3B4 | T280fs | Nager syndrome | Pathogenic
(Sep 7, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:149897777
- GRCh38:
- Chr1:149925885
| SF3B4 | H288fs | Nager syndrome | Pathogenic
(Sep 7, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:149895759-149895760
- GRCh38:
- Chr1:149923867-149923868
| SF3B4 | R354fs | not specified | Benign
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:149895560-149895561
- GRCh38:
- Chr1:149923668-149923669
| SF3B4 | H383fs | Nager syndrome | Pathogenic
(Sep 7, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:149895510
- GRCh38:
- Chr1:149923618
| SF3B4 | P400fs | Nager syndrome | Pathogenic
(Sep 7, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:149895477
- GRCh38:
- Chr1:149923585
| SF3B4 | P411fs | Nager syndrome | Pathogenic
(Sep 7, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:149895451-149895457
- GRCh38:
- Chr1:149923559-149923565
| SF3B4 | L418fs | Nager syndrome | Pathogenic
(Sep 7, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:149895814
- GRCh38:
- Chr1:149923922
| SF3B4 | R336* | not provided | Pathogenic
(Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:149897727
- GRCh38:
- Chr1:149925835
| SF3B4 | | Nager syndrome | Pathogenic
(Sep 7, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:149895562
- GRCh38:
- Chr1:149923670
| SF3B4 | H383fs | Inborn genetic diseases, not provided | Pathogenic
(Oct 23, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:149895561-149895562
- GRCh38:
- Chr1:149923669-149923670
| SF3B4 | H383fs | not specified, Inborn genetic diseases | Conflicting interpretations of pathogenicity
(May 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:149899651
- GRCh38:
- Chr1:149927759
| SF3B4 | M1V | not provided | Pathogenic
(Sep 23, 2022) | criteria provided, single submitter |