| - GRCh37:
- Chr7:66460274
- GRCh38:
- Chr7:66995287
| SBDS | | Shwachman-Diamond syndrome 1 | Uncertain significance
(May 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:66457981-66458852
- GRCh38:
- Chr7:66992994-66993865
| SBDS | | Shwachman-Diamond syndrome 1 | Pathogenic
(Mar 29, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr7:66436397-66455294
- GRCh38:
- Chr7:66971410-66990307
| SBDS | | Shwachman-Diamond syndrome 1 | Pathogenic
(Mar 29, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr7:66456207
- GRCh38:
- Chr7:66991220
| SBDS | N181D | Shwachman-Diamond syndrome 1 | Uncertain significance
(Feb 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:66458209-66458210
- GRCh38:
- Chr7:66993222-66993223
| SBDS | Q152fs | Shwachman-Diamond syndrome 1 | Likely pathogenic
(Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:66456270
- GRCh38:
- Chr7:66991283
| SBDS | Q160* | Shwachman-Diamond syndrome 1 | Likely pathogenic
(Apr 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:66459284
- GRCh38:
- Chr7:66994297
| SBDS | V58A | Shwachman-Diamond syndrome 1, Aplastic anemia, Inborn genetic diseases
| Uncertain significance
(Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:66453482
- GRCh38:
- Chr7:66988495
| SBDS | C210Y | Shwachman-Diamond syndrome 1 | Likely pathogenic
(Dec 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:34949744
- GRCh38:
- Chr5:34949639
| DNAJC21 | E428K | Bone marrow failure syndrome 3, Shwachman-Diamond syndrome 1, not specified,
Bone marrow failure syndrome 3 | Uncertain significance
(Aug 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:66453458
- GRCh38:
- Chr7:66988471
| SBDS | R218Q | Shwachman-Diamond syndrome 1 | Likely pathogenic
(May 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:66458337
- GRCh38:
- Chr7:66993350
| SBDS | R109T | Shwachman-Diamond syndrome 1 | Uncertain significance
(Apr 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:66458355-66458358
- GRCh38:
- Chr7:66993368-66993371
| SBDS | T102fs | Shwachman-Diamond syndrome 1 | Likely pathogenic
(Jan 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:34954038
- GRCh38:
- Chr5:34953933
| DNAJC21 | K456fs, K469fs, K501fs | not provided, Shwachman-Diamond syndrome 1, Bone marrow failure syndrome 3
| Uncertain significance
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:35492302-35492318
- GRCh38:
- Chr14:35023096-35023112
| SRP54 | | Neutropenia, severe congenital, 8, autosomal dominant, Shwachman-Diamond syndrome 1, not provided
| Benign/Likely benign
(Sep 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:34945004
- GRCh38:
- Chr5:34944899
| DNAJC21 | R339Q | Shwachman-Diamond syndrome 1, Bone marrow failure syndrome 3, not provided
| Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:35480865
- GRCh38:
- Chr14:35011659
| SRP54 | | not provided, not specified, Neutropenia, severe congenital, 8, autosomal dominant,
Shwachman-Diamond syndrome 1 | Benign/Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:66453486
- GRCh38:
- Chr7:66988499
| SBDS | | Shwachman-Diamond syndrome 1 | Pathogenic
(Sep 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:66456289
- GRCh38:
- Chr7:66991302
| SBDS | | Inborn genetic diseases | Pathogenic
(Oct 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:126134989
- GRCh38:
- Chr11:126265094
| SRPRA | Q436E, Q464E | Shwachman-Diamond syndrome 1, Severe congenital neutropenia | Pathogenic
(Jan 6, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr5:112200230
- GRCh38:
- Chr5:112864533
| SRP19 | | Shwachman-Diamond syndrome 1, Severe congenital neutropenia | Pathogenic
(Jan 6, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr7:66460387
- GRCh38:
- Chr7:66995400
| SBDS | T7fs | Shwachman-Diamond syndrome 1 | Pathogenic
(Jun 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:66459290
- GRCh38:
- Chr7:66994303
| SBDS | V56A | Shwachman-Diamond syndrome 1 | Likely pathogenic
(Jun 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:34939040
- GRCh38:
- Chr5:34938935
| DNAJC21 | R274Q | Shwachman-Diamond syndrome 1, Bone marrow failure syndrome 3, not provided
| Benign/Likely benign
(Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:66458403
- GRCh38:
- Chr7:66993416
| SBDS | I87S | Shwachman-Diamond syndrome 1 | Uncertain significance
(Apr 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:66459258
- GRCh38:
- Chr7:66994271
| SBDS | K67E | Shwachman-Diamond syndrome 1 | Uncertain significance
(Apr 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:66459326
- GRCh38:
- Chr7:66994339
| SBDS | E44G | Shwachman-Diamond syndrome 1 | Uncertain significance
(Apr 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:66459273
- GRCh38:
- Chr7:66994286
| SBDS | K62* | not provided, Intellectual disability, Shwachman-Diamond syndrome 1,
Splenomegaly, Microcephaly, Short stature,
Deeply set eye, Agenesis of permanent teeth | Pathogenic/Likely pathogenic
(May 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:66460392
- GRCh38:
- Chr7:66995405
| SBDS | T5fs | not provided, Shwachman-Diamond syndrome 1 | Pathogenic
(Apr 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:66459399
- GRCh38:
- Chr7:66994412
| SBDS | | not specified, Shwachman-Diamond syndrome 1, not provided
| Benign
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:35476575-35476577
- GRCh38:
- Chr14:35007369-35007371
| SRP54 | T117del, T68del | Neutropenia, severe congenital, 8, autosomal dominant, not provided | Pathogenic/Likely pathogenic
(Sep 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:35476576
- GRCh38:
- Chr14:35007370
| SRP54 | T115A, T66A | Neutropenia, severe congenital, 8, autosomal dominant, Shwachman-Diamond syndrome 1 | Pathogenic
(Jan 31, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr14:35482592
- GRCh38:
- Chr14:35013386
| SRP54 | G226E, G177E | Inborn genetic diseases | Likely pathogenic
(Dec 8, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr7:66456225
- GRCh38:
- Chr7:66991238
| SBDS | R175W | Shwachman-Diamond syndrome 1, Aplastic anemia, not provided
| Conflicting interpretations of pathogenicity
(Jan 9, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:66458275
- GRCh38:
- Chr7:66993288
| SBDS | V130M | not provided, Shwachman-Diamond syndrome 1 | Likely pathogenic
(May 28, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:66460285
- GRCh38:
- Chr7:66995298
| SBDS | S41fs | Shwachman-Diamond syndrome 1, not provided, Aplastic anemia,
Shwachman-Diamond syndrome 1 | Pathogenic
(May 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:66459180
- GRCh38:
- Chr7:66994193
| SBDS | | not specified, not provided, Shwachman-Diamond syndrome 1
| Benign
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:34941289
- GRCh38:
- Chr5:34941184
| DNAJC21 | | Bone marrow failure syndrome 3, Shwachman-Diamond syndrome 1, not provided
| Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:66460307
- GRCh38:
- Chr7:66995320
| SBDS | K33T | Shwachman-Diamond syndrome 1 | Pathogenic
(Jun 1, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr7:66453459
- GRCh38:
- Chr7:66988472
| SBDS | R218* | not provided, Aplastic anemia | Likely pathogenic
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:66453460
- GRCh38:
- Chr7:66988473
| SBDS | | Inborn genetic diseases, not specified, not provided,
Shwachman-Diamond syndrome 1 | Benign
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:66453476
- GRCh38:
- Chr7:66988489
| SBDS | I212T | Inborn genetic diseases, not specified, not provided,
Shwachman-Diamond syndrome 1 | Benign/Likely benign
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:66456123
- GRCh38:
- Chr7:66991136
| SBDS | | not provided | Pathogenic
(Jul 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:66456243
- GRCh38:
- Chr7:66991256
| SBDS | R169C | not provided, Shwachman-Diamond syndrome 1 | Conflicting interpretations of pathogenicity
(Jul 17, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:66458286
- GRCh38:
- Chr7:66993299
| SBDS | R126T | Shwachman-Diamond syndrome 1 | not provided | no assertion provided |
| - GRCh37:
- Chr7:66458363-66458366
- GRCh38:
- Chr7:66993376-66993379
| SBDS | E99fs | Shwachman-Diamond syndrome 1, Aplastic anemia, not provided
| Pathogenic
(Apr 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:66459198
- GRCh38:
- Chr7:66994211
| SBDS | | Shwachman-Diamond syndrome 1, Aplastic anemia, Inborn genetic diseases,
not provided, Shwachman-Diamond syndrome 1 | Pathogenic
(Jul 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:66459256
- GRCh38:
- Chr7:66994269
| SBDS | | Inborn genetic diseases, not specified, not provided,
Shwachman-Diamond syndrome 1 | Benign
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:66459316
- GRCh38:
- Chr7:66994329
| SBDS | | Inborn genetic diseases, not specified, not provided,
Shwachman-Diamond syndrome 1 | Benign
(Jul 31, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:66460303-66460304
- GRCh38:
- Chr7:66995316-66995317
| SBDS | N34fs | Shwachman-Diamond syndrome 1 | Pathogenic
(Mar 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr7:66460381
- GRCh38:
- Chr7:66995394
| SBDS | N8K | Shwachman-Diamond syndrome 1 | Uncertain significance
(Apr 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:66459197
- GRCh38:
- Chr7:66994210
| SBDS | | Inborn genetic diseases, Aplastic anemia, Shwachman-Diamond syndrome 1,
not provided, not specified, Aplastic anemia,
Deeply set eye, Microcephaly, Splenomegaly,
Agenesis of permanent teeth, Short statureShwachman syndrome,
Shwachman-Diamond syndrome 1, ...see more | Pathogenic/Likely pathogenic
(Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:66459273-66459274
- GRCh38:
- Chr7:66994286-66994287
| SBDS | K62* | not provided, Aplastic anemia, Shwachman-Diamond syndrome 1,
Inborn genetic diseases, Shwachman-Diamond syndrome 1 | Pathogenic
(Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |