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Links from MedGen

Items: 52

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:66460274
GRCh38:
Chr7:66995287
SBDSShwachman-Diamond syndrome 1Uncertain significance
(May 2, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr7:66457981-66458852
GRCh38:
Chr7:66992994-66993865
SBDSShwachman-Diamond syndrome 1Pathogenic
(Mar 29, 2023)
no assertion criteria provided
3.
GRCh37:
Chr7:66436397-66455294
GRCh38:
Chr7:66971410-66990307
SBDSShwachman-Diamond syndrome 1Pathogenic
(Mar 29, 2023)
no assertion criteria provided
4.
GRCh37:
Chr7:66456207
GRCh38:
Chr7:66991220
SBDSN181DShwachman-Diamond syndrome 1Uncertain significance
(Feb 12, 2021)
criteria provided, single submitter
5.
GRCh37:
Chr7:66458209-66458210
GRCh38:
Chr7:66993222-66993223
SBDSQ152fsShwachman-Diamond syndrome 1Likely pathogenic
(Jul 26, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr7:66456270
GRCh38:
Chr7:66991283
SBDSQ160*Shwachman-Diamond syndrome 1Likely pathogenic
(Apr 7, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr7:66459284
GRCh38:
Chr7:66994297
SBDSV58AShwachman-Diamond syndrome 1, Aplastic anemia, Inborn genetic diseases
Uncertain significance
(Sep 14, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr7:66453482
GRCh38:
Chr7:66988495
SBDSC210YShwachman-Diamond syndrome 1Likely pathogenic
(Dec 28, 2021)
criteria provided, single submitter
9.
GRCh37:
Chr5:34949744
GRCh38:
Chr5:34949639
DNAJC21E428KBone 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
10.
GRCh37:
Chr7:66453458
GRCh38:
Chr7:66988471
SBDSR218QShwachman-Diamond syndrome 1Likely pathogenic
(May 13, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr7:66458337
GRCh38:
Chr7:66993350
SBDSR109TShwachman-Diamond syndrome 1Uncertain significance
(Apr 8, 2021)
criteria provided, single submitter
12.
GRCh37:
Chr7:66458355-66458358
GRCh38:
Chr7:66993368-66993371
SBDST102fsShwachman-Diamond syndrome 1Likely pathogenic
(Jan 8, 2021)
criteria provided, single submitter
13.
GRCh37:
Chr5:34954038
GRCh38:
Chr5:34953933
DNAJC21K456fs, K469fs, K501fsnot provided, Shwachman-Diamond syndrome 1, Bone marrow failure syndrome 3
Uncertain significance
(Sep 7, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr14:35492302-35492318
GRCh38:
Chr14:35023096-35023112
SRP54Neutropenia, severe congenital, 8, autosomal dominant, Shwachman-Diamond syndrome 1, not provided
Benign/Likely benign
(Sep 2, 2021)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr5:34945004
GRCh38:
Chr5:34944899
DNAJC21R339QShwachman-Diamond syndrome 1, Bone marrow failure syndrome 3, not provided
Uncertain significance
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr14:35480865
GRCh38:
Chr14:35011659
SRP54not 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
17.
GRCh37:
Chr7:66453486
GRCh38:
Chr7:66988499
SBDSShwachman-Diamond syndrome 1Pathogenic
(Sep 20, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr7:66456289
GRCh38:
Chr7:66991302
SBDSInborn genetic diseasesPathogenic
(Oct 18, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr11:126134989
GRCh38:
Chr11:126265094
SRPRAQ436E, Q464EShwachman-Diamond syndrome 1, Severe congenital neutropeniaPathogenic
(Jan 6, 2020)
no assertion criteria provided
20.
GRCh37:
Chr5:112200230
GRCh38:
Chr5:112864533
SRP19Shwachman-Diamond syndrome 1, Severe congenital neutropeniaPathogenic
(Jan 6, 2020)
no assertion criteria provided
21.
GRCh37:
Chr7:66460387
GRCh38:
Chr7:66995400
SBDST7fsShwachman-Diamond syndrome 1Pathogenic
(Jun 7, 2019)
criteria provided, single submitter
22.
GRCh37:
Chr7:66459290
GRCh38:
Chr7:66994303
SBDSV56AShwachman-Diamond syndrome 1Likely pathogenic
(Jun 3, 2019)
criteria provided, single submitter
23.
GRCh37:
Chr5:34939040
GRCh38:
Chr5:34938935
DNAJC21R274QShwachman-Diamond syndrome 1, Bone marrow failure syndrome 3, not provided
Benign/Likely benign
(Oct 29, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr7:66458403
GRCh38:
Chr7:66993416
SBDSI87SShwachman-Diamond syndrome 1Uncertain significance
(Apr 16, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr7:66459258
GRCh38:
Chr7:66994271
SBDSK67EShwachman-Diamond syndrome 1Uncertain significance
(Apr 16, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr7:66459326
GRCh38:
Chr7:66994339
SBDSE44GShwachman-Diamond syndrome 1Uncertain significance
(Apr 16, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr7:66459273
GRCh38:
Chr7:66994286
SBDSK62*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
28.
GRCh37:
Chr7:66460392
GRCh38:
Chr7:66995405
SBDST5fsnot provided, Shwachman-Diamond syndrome 1Pathogenic
(Apr 1, 2023)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr7:66459399
GRCh38:
Chr7:66994412
SBDSnot specified, Shwachman-Diamond syndrome 1, not provided
Benign
(Jul 7, 2023)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr14:35476575-35476577
GRCh38:
Chr14:35007369-35007371
SRP54T117del, T68delNeutropenia, severe congenital, 8, autosomal dominant, not providedPathogenic/Likely pathogenic
(Sep 24, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr14:35476576
GRCh38:
Chr14:35007370
SRP54T115A, T66ANeutropenia, severe congenital, 8, autosomal dominant, Shwachman-Diamond syndrome 1Pathogenic
(Jan 31, 2020)
no assertion criteria provided
32.
GRCh37:
Chr14:35482592
GRCh38:
Chr14:35013386
SRP54G226E, G177EInborn genetic diseasesLikely pathogenic
(Dec 8, 2017)
criteria provided, single submitter
33.
GRCh37:
Chr7:66456225
GRCh38:
Chr7:66991238
SBDSR175WShwachman-Diamond syndrome 1, Aplastic anemia, not provided
Conflicting interpretations of pathogenicity
(Jan 9, 2023)
criteria provided, conflicting interpretations
34.
GRCh37:
Chr7:66458275
GRCh38:
Chr7:66993288
SBDSV130Mnot provided, Shwachman-Diamond syndrome 1Likely pathogenic
(May 28, 2019)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr7:66460285
GRCh38:
Chr7:66995298
SBDSS41fsShwachman-Diamond syndrome 1, not provided, Aplastic anemia,
Shwachman-Diamond syndrome 1
Pathogenic
(May 2, 2023)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr7:66459180
GRCh38:
Chr7:66994193
SBDSnot specified, not provided, Shwachman-Diamond syndrome 1
Benign
(Jul 7, 2023)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr5:34941289
GRCh38:
Chr5:34941184
DNAJC21Bone marrow failure syndrome 3, Shwachman-Diamond syndrome 1, not provided
Conflicting interpretations of pathogenicity
(Oct 31, 2022)
criteria provided, conflicting interpretations
38.
GRCh37:
Chr7:66460307
GRCh38:
Chr7:66995320
SBDSK33TShwachman-Diamond syndrome 1Pathogenic
(Jun 1, 2014)
criteria provided, single submitter
39.
GRCh37:
Chr7:66453459
GRCh38:
Chr7:66988472
SBDSR218*not provided, Aplastic anemiaLikely pathogenic
(Jul 7, 2023)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr7:66453460
GRCh38:
Chr7:66988473
SBDSInborn genetic diseases, not specified, not provided,
Shwachman-Diamond syndrome 1
Benign
(Jul 7, 2023)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr7:66453476
GRCh38:
Chr7:66988489
SBDSI212TInborn genetic diseases, not specified, not provided,
Shwachman-Diamond syndrome 1
Benign/Likely benign
(Jul 7, 2023)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr7:66456123
GRCh38:
Chr7:66991136
SBDSnot providedPathogenic
(Jul 18, 2019)
criteria provided, single submitter
43.
GRCh37:
Chr7:66456243
GRCh38:
Chr7:66991256
SBDSR169Cnot provided, Shwachman-Diamond syndrome 1Conflicting interpretations of pathogenicity
(Jul 17, 2023)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr7:66458286
GRCh38:
Chr7:66993299
SBDSR126TShwachman-Diamond syndrome 1not providedno assertion provided
45.
GRCh37:
Chr7:66458363-66458366
GRCh38:
Chr7:66993376-66993379
SBDSE99fsShwachman-Diamond syndrome 1, Aplastic anemia, not provided
Pathogenic
(Apr 22, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr7:66459198
GRCh38:
Chr7:66994211
SBDSShwachman-Diamond syndrome 1, Aplastic anemia, Inborn genetic diseases,
not provided, Shwachman-Diamond syndrome 1
Pathogenic
(Jul 7, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr7:66459256
GRCh38:
Chr7:66994269
SBDSInborn genetic diseases, not specified, not provided,
Shwachman-Diamond syndrome 1
Benign
(Jul 7, 2023)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr7:66459316
GRCh38:
Chr7:66994329
SBDSInborn genetic diseases, not specified, not provided,
Shwachman-Diamond syndrome 1
Benign
(Jul 31, 2017)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr7:66460303-66460304
GRCh38:
Chr7:66995316-66995317
SBDSN34fsShwachman-Diamond syndrome 1Pathogenic
(Mar 1, 2004)
no assertion criteria provided
50.
GRCh37:
Chr7:66460381
GRCh38:
Chr7:66995394
SBDSN8KShwachman-Diamond syndrome 1Uncertain significance
(Apr 16, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr7:66459197
GRCh38:
Chr7:66994210
SBDSInborn 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
52.
GRCh37:
Chr7:66459273-66459274
GRCh38:
Chr7:66994286-66994287
SBDSK62*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
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