| - GRCh37:
- Chr19:42364911
- GRCh38:
- Chr19:41860841
| RPS19 | K24fs | Diamond-Blackfan anemia 1 | Likely pathogenic
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42364836
- GRCh38:
- Chr19:41860766
| RPS19 | | Diamond-Blackfan anemia 1 | Uncertain significance
(Mar 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42365233
- GRCh38:
- Chr19:41861164
| RPS19 | H42Y | Diamond-Blackfan anemia 1 | Uncertain significance
(Nov 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42373244
- GRCh38:
- Chr19:41869174
| RPS19 | S110fs, A106fs | Diamond-Blackfan anemia 1 | Pathogenic
(Jan 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42373221-42373222
- GRCh38:
- Chr19:41869151-41869152
| RPS19 | C103fs, V99fs | Diamond-Blackfan anemia 1 | Pathogenic
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42364845
- GRCh38:
- Chr19:41860775
| RPS19 | M1V | Diamond-Blackfan anemia 1 | Uncertain significance
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42373842
- GRCh38:
- Chr19:41869772
| RPS19 | | Diamond-Blackfan anemia 1, Congenital hypoplastic anemia | Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42373296
- GRCh38:
- Chr19:41869226
| RPS19 | | Diamond-Blackfan anemia 1, Congenital hypoplastic anemia | Likely benign
(Jun 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42365164
- GRCh38:
- Chr19:41861095
| RPS19 | | Diamond-Blackfan anemia 1, Congenital hypoplastic anemia | Benign/Likely benign
(Apr 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42365237
- GRCh38:
- Chr19:41861168
| RPS19 | K43R | Diamond-Blackfan anemia 1, Congenital hypoplastic anemia | Uncertain significance
(Dec 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42373173
- GRCh38:
- Chr19:41869103
| RPS19 | R82H | Diamond-Blackfan anemia 1, Congenital hypoplastic anemia | Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:50109578
- GRCh38:
- Chr16:50075667
| HEATR3 | P123L, P240L, P9L | Diamond-Blackfan anemia 1 | Pathogenic
(Jan 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:50102779
- GRCh38:
- Chr16:50068868
| HEATR3 | | Diamond-Blackfan anemia 1 | Pathogenic
(Jan 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42373814-42373815
- GRCh38:
- Chr19:41869744-41869745
| RPS19 | A135fs, R139fs | Diamond-Blackfan anemia 1 | Pathogenic
(Feb 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:50104089
- GRCh38:
- Chr16:50070178
| HEATR3 | C134R, C17R | Diamond-Blackfan anemia 21, Diamond-Blackfan anemia 1 | Pathogenic
(Oct 12, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr19:42373805
- GRCh38:
- Chr19:41869735
| RPS19 | G136R | Diamond-Blackfan anemia 1, Congenital hypoplastic anemia | Conflicting interpretations of pathogenicity
(Aug 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:42373223-42373224
- GRCh38:
- Chr19:41869153-41869154
| RPS19 | C103fs, V99fs | Diamond-Blackfan anemia 1 | Pathogenic
(Aug 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42373187
- GRCh38:
- Chr19:41869117
| RPS19 | V87I, R91H | Diamond-Blackfan anemia 1, Congenital hypoplastic anemia | Uncertain significance
(Oct 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42373764
- GRCh38:
- Chr19:41869694
| MIR6797, RPS19 | | Diamond-Blackfan anemia 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42373126
- GRCh38:
- Chr19:41869056
| RPS19 | P71S | Diamond-Blackfan anemia 1 | Uncertain significance
(Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42373111
- GRCh38:
- Chr19:41869041
| RPS19 | A66T | Diamond-Blackfan anemia 1, Congenital hypoplastic anemia | Likely benign
(Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42364921
- GRCh38:
- Chr19:41860851
| RPS19 | | Diamond-Blackfan anemia 1 | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42364832
- GRCh38:
- Chr19:41860762
| RPS19 | | Diamond-Blackfan anemia 1 | Benign/Likely benign
(Sep 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42364334
- GRCh38:
- Chr19:41860264
| RPS19 | | Diamond-Blackfan anemia 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42364310
- GRCh38:
- Chr19:41860240
| RPS19 | | Diamond-Blackfan anemia 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42364170
- GRCh38:
- Chr19:41860100
| RPS19 | | Diamond-Blackfan anemia 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42373261
- GRCh38:
- Chr19:41869191
| RPS19 | N116D | Diamond-Blackfan anemia 1, Congenital hypoplastic anemia | Likely benign
(Aug 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42373778-42373779
- GRCh38:
- Chr19:41869708-41869709
| RPS19 | D128fs | Diamond-Blackfan anemia 1 | Pathogenic
(Sep 18, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr1:93299194-93299197
- GRCh38:
- Chr1:92833637-92833640
| DIPK1A, RPL5 | N57fs | Diamond-Blackfan anemia 1, not provided, Congenital hypoplastic anemia,
Diamond-Blackfan anemia 6 | Pathogenic
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42365166
- GRCh38:
- Chr19:41861097
| RPS19 | | Congenital hypoplastic anemia, Diamond-Blackfan anemia 1, not specified
| Conflicting interpretations of pathogenicity
(Aug 13, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:42365184
- GRCh38:
- Chr19:41861115
| RPS19 | | Diamond-Blackfan anemia 1, Congenital hypoplastic anemia | Likely benign
(May 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42373136
- GRCh38:
- Chr19:41869066
| RPS19 | A70T, R74H | Congenital hypoplastic anemia, not provided, Diamond-Blackfan anemia 1
| Uncertain significance
(Mar 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42373287
- GRCh38:
- Chr19:41869217
| RPS19 | | Diamond-Blackfan anemia 1 | Likely pathogenic
(Dec 21, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr19:42364838
- GRCh38:
- Chr19:41860768
| RPS19 | | not specified, Diamond-Blackfan anemia 1 | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:42364847
- GRCh38:
- Chr19:41860777
| RPS19 | M1I | Diamond-Blackfan anemia 1, not provided, Congenital hypoplastic anemia
| Pathogenic
(Aug 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42365286
- GRCh38:
- Chr19:41861217
| RPS19 | E59D | Diamond-Blackfan anemia 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42364912
- GRCh38:
- Chr19:41860842
| RPS19 | K23R | Congenital hypoplastic anemia, not specified, Diamond-Blackfan anemia 1,
not provided | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:42364904
- GRCh38:
- Chr19:41860834
| RPS19 | | not specified, Diamond-Blackfan anemia 1, Congenital hypoplastic anemia,
not provided | Benign/Likely benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42364836
- GRCh38:
- Chr19:41860766
| RPS19 | | Diamond-Blackfan anemia 1 | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42364831
- GRCh38:
- Chr19:41860761
| RPS19 | | Diamond-Blackfan anemia 1 | Likely benign
(Aug 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42364373
- GRCh38:
- Chr19:41860303
| RPS19 | | Diamond-Blackfan anemia 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42364350
- GRCh38:
- Chr19:41860280
| RPS19 | | Diamond-Blackfan anemia 1 | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42364286
- GRCh38:
- Chr19:41860216
| RPS19 | | Diamond-Blackfan anemia 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42364209
- GRCh38:
- Chr19:41860139
| RPS19 | | Diamond-Blackfan anemia 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42364126
- GRCh38:
- Chr19:41860056
| RPS19 | | Diamond-Blackfan anemia 1 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42364086
- GRCh38:
- Chr19:41860016
| RPS19 | | Diamond-Blackfan anemia 1 | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42364072
- GRCh38:
- Chr19:41860002
| RPS19 | | Diamond-Blackfan anemia 1 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42364021
- GRCh38:
- Chr19:41859951
| RPS19 | | Diamond-Blackfan anemia 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:93297677
- GRCh38:
- Chr1:92832120
| RPL5 | | Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 1, not specified,
Congenital hypoplastic anemia, not provided | Benign/Likely benign
(Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42365273
- GRCh38:
- Chr19:41861204
| RPS19 | T55M | Diamond-Blackfan anemia 1, not provided, Congenital hypoplastic anemia
| Uncertain significance
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42373302
- GRCh38:
- Chr19:41869232
| RPS19 | | Diamond-Blackfan anemia 1, not provided, Congenital hypoplastic anemia
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:93303114
- GRCh38:
- Chr1:92837557
| DIPK1A, RPL5 | Y210C | not provided, Congenital hypoplastic anemia, not specified,
Diamond-Blackfan anemia 1, Diamond-Blackfan anemia 6 | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42373835
- GRCh38:
- Chr19:41869765
| RPS19 | | not specified, not provided, Diamond-Blackfan anemia 1,
Congenital hypoplastic anemia | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42373298
- GRCh38:
- Chr19:41869228
| RPS19 | | not specified, Diamond-Blackfan anemia 1, Congenital hypoplastic anemia
| Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42364612-42369681
- GRCh38:
- Chr19:41860542-41865612
| RPS19 | | Diamond-Blackfan anemia 1 | Pathogenic
(Nov 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr19:42373792
- GRCh38:
- Chr19:41869722
| RPS19 | G127E | Congenital hypoplastic anemia | Likely pathogenic
(Jan 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42365273
- Chr19:42364887
- GRCh38:
- Chr19:41861204
- Chr19:41860817
| RPS19, RPS19 | T55M, V15F | Diamond-Blackfan anemia 1 | Pathogenic
(Jun 15, 2003) | no assertion criteria provided |
| - GRCh37:
- Chr19:42365243-42365244
- Chr19:42365245-42365246
- GRCh38:
- Chr19:41861174-41861175
- Chr19:41861176-41861177
| RPS19, RPS19 | P47fs | Diamond-Blackfan anemia 1 | Pathogenic
(Nov 1, 1999) | no assertion criteria provided |
| - GRCh37:
- Chr19:42373233
- GRCh38:
- Chr19:41869163
| RPS19 | G107fs, V103fs | Diamond-Blackfan anemia 1 | Pathogenic
(Nov 1, 1999) | no assertion criteria provided |
| - GRCh37:
- Chr19:42373178
- GRCh38:
- Chr19:41869108
| RPS19 | R84*, E88V | Diamond-Blackfan anemia 1 | Pathogenic
(Nov 1, 1999) | no assertion criteria provided |
| - GRCh37:
- Chr19:42365207
- GRCh38:
- Chr19:41861138
| RPS19 | W33* | Diamond-Blackfan anemia 1, Congenital hypoplastic anemia | Pathogenic
(Aug 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42373112
- GRCh38:
- Chr19:41869042
| RPS19 | R62W, A66V | not provided, Congenital hypoplastic anemia | Pathogenic
(Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42373208
- GRCh38:
- Chr19:41869138
| RPS19 | R94*, P98L | not provided, Diamond-Blackfan anemia 1, Congenital hypoplastic anemia
| Pathogenic
(Sep 1, 2020) | criteria provided, multiple submitters, no conflicts |