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Links from MedGen

Items: 46

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:66456207
GRCh38:
Chr7:66991220
SBDSN181DShwachman-Diamond syndrome 1Uncertain significance
(Feb 12, 2021)
criteria provided, single submitter
2.
GRCh37:
Chr7:66458209-66458210
GRCh38:
Chr7:66993222-66993223
SBDSQ152fsShwachman-Diamond syndrome 1Likely pathogenic
(Jul 26, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr7:66456270
GRCh38:
Chr7:66991283
SBDSQ160*Shwachman-Diamond syndrome 1Likely pathogenic
(Apr 7, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr7:66459284
GRCh38:
Chr7:66994297
SBDSV58AInborn genetic diseases, Shwachman-Diamond syndrome 1, Aplastic anemia
Uncertain significance
(Sep 14, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr7:66453482
GRCh38:
Chr7:66988495
SBDSC210YShwachman-Diamond syndrome 1Likely pathogenic
(Dec 28, 2021)
criteria provided, single submitter
6.
GRCh37:
Chr5:34949744
GRCh38:
Chr5:34949639
DNAJC21E428KBone marrow failure syndrome 3, not specified, Shwachman-Diamond syndrome 1,
Bone marrow failure syndrome 3
Uncertain significance
(Aug 26, 2022)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr7:66453458
GRCh38:
Chr7:66988471
SBDSR218QShwachman-Diamond syndrome 1Likely pathogenic
(May 13, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr7:66458337
GRCh38:
Chr7:66993350
SBDSR109TShwachman-Diamond syndrome 1Uncertain significance
(Apr 8, 2021)
criteria provided, single submitter
9.
GRCh37:
Chr7:66458355-66458358
GRCh38:
Chr7:66993368-66993371
SBDST102fsShwachman-Diamond syndrome 1Likely pathogenic
(Jan 8, 2021)
criteria provided, single submitter
10.
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
11.
GRCh37:
Chr14:35492302-35492318
GRCh38:
Chr14:35023096-35023112
SRP54not provided, Shwachman-Diamond syndrome 1, Neutropenia, severe congenital, 8, autosomal dominant
Benign/Likely benign
(Sep 2, 2021)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr5:34945004
GRCh38:
Chr5:34944899
DNAJC21R339QBone marrow failure syndrome 3, Shwachman-Diamond syndrome 1, not provided
Uncertain significance
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr14:35480865
GRCh38:
Chr14:35011659
SRP54not specified, not provided, Neutropenia, severe congenital, 8, autosomal dominant,
Shwachman-Diamond syndrome 1
Benign/Likely benign
(Nov 2, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr7:66453486
GRCh38:
Chr7:66988499
SBDSShwachman-Diamond syndrome 1Pathogenic
(Sep 20, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr7:66456289
GRCh38:
Chr7:66991302
SBDSInborn genetic diseasesPathogenic
(Oct 18, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr11:126134989
GRCh38:
Chr11:126265094
SRPRAQ436E, Q464EShwachman-Diamond syndrome 1, Severe congenital neutropeniaPathogenic
(Jan 6, 2020)
no assertion criteria provided
17.
GRCh37:
Chr5:112200230
GRCh38:
Chr5:112864533
SRP19Shwachman-Diamond syndrome 1, Severe congenital neutropeniaPathogenic
(Jan 6, 2020)
no assertion criteria provided
18.
GRCh37:
Chr7:66460387
GRCh38:
Chr7:66995400
SBDST7fsShwachman-Diamond syndrome 1Pathogenic
(Jun 7, 2019)
criteria provided, single submitter
19.
GRCh37:
Chr7:66459290
GRCh38:
Chr7:66994303
SBDSV56AShwachman-Diamond syndrome 1Likely pathogenic
(Jun 3, 2019)
criteria provided, single submitter
20.
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
21.
GRCh37:
Chr7:66458403
GRCh38:
Chr7:66993416
SBDSI87SShwachman-Diamond syndrome 1Uncertain significance
(Apr 16, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr7:66459258
GRCh38:
Chr7:66994271
SBDSK67EShwachman-Diamond syndrome 1Uncertain significance
(Apr 16, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr7:66459326
GRCh38:
Chr7:66994339
SBDSE44GShwachman-Diamond syndrome 1Uncertain significance
(Apr 16, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr7:66459273
GRCh38:
Chr7:66994286
SBDSK62*Intellectual disability, Agenesis of permanent teeth, Deeply set eye,
Short stature, Microcephaly, Splenomegaly,
not provided, Shwachman-Diamond syndrome 1
Pathogenic/Likely pathogenic
(May 3, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr14:35476575-35476577
GRCh38:
Chr14:35007369-35007371
SRP54T117del, T68delnot provided, Neutropenia, severe congenital, 8, autosomal dominantPathogenic/Likely pathogenic
(Sep 24, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr14:35476576
GRCh38:
Chr14:35007370
SRP54T115A, T66AShwachman-Diamond syndrome 1, Neutropenia, severe congenital, 8, autosomal dominantPathogenic
(Jan 31, 2020)
no assertion criteria provided
27.
GRCh37:
Chr14:35482592
GRCh38:
Chr14:35013386
SRP54G226E, G177EInborn genetic diseasesLikely pathogenic
(Dec 8, 2017)
criteria provided, single submitter
28.
GRCh37:
Chr7:66456225
GRCh38:
Chr7:66991238
SBDSR175Wnot provided, Shwachman-Diamond syndrome 1, Aplastic anemia
Conflicting interpretations of pathogenicity
(Jan 9, 2023)
criteria provided, conflicting interpretations
29.
GRCh37:
Chr7:66458275
GRCh38:
Chr7:66993288
SBDSV130Mnot provided, Shwachman-Diamond syndrome 1Likely pathogenic
(May 28, 2019)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr7:66460285
GRCh38:
Chr7:66995298
SBDSS41fsnot provided, Aplastic anemia, Shwachman-Diamond syndrome 1
Pathogenic
(Apr 19, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr5:34941289
GRCh38:
Chr5:34941184
DNAJC21not provided, Bone marrow failure syndrome 3, Shwachman-Diamond syndrome 1
Conflicting interpretations of pathogenicity
(Oct 31, 2022)
criteria provided, conflicting interpretations
32.
GRCh37:
Chr7:66460307
GRCh38:
Chr7:66995320
SBDSK33TShwachman-Diamond syndrome 1Pathogenic
(Jun 1, 2014)
criteria provided, single submitter
33.
GRCh37:
Chr7:66453459
GRCh38:
Chr7:66988472
SBDSR218*not providedLikely pathogenic
(Aug 11, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr7:66453460
GRCh38:
Chr7:66988473
SBDSInborn genetic diseases, not specified, not provided
Benign
(Mar 29, 2017)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr7:66453476
GRCh38:
Chr7:66988489
SBDSI212TInborn genetic diseases, not specified, not provided,
Shwachman-Diamond syndrome 1
Benign/Likely benign
(May 31, 2018)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr7:66456123
GRCh38:
Chr7:66991136
SBDSnot providedPathogenic
(Jul 18, 2019)
criteria provided, single submitter
37.
GRCh37:
Chr7:66456243
GRCh38:
Chr7:66991256
SBDSR169CShwachman-Diamond syndrome 1Uncertain significance
(Apr 16, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr7:66458286
GRCh38:
Chr7:66993299
SBDSR126TShwachman-Diamond syndrome 1not providedno assertion provided
39.
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
40.
GRCh37:
Chr7:66459198
GRCh38:
Chr7:66994211
SBDSAplastic anemia, Shwachman-Diamond syndrome 1, Inborn genetic diseases,
not provided, Shwachman-Diamond syndrome 1
Pathogenic
(Jul 7, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr7:66459256
GRCh38:
Chr7:66994269
SBDSInborn genetic diseases, not specified, not provided,
Shwachman-Diamond syndrome 1
Benign
(Nov 7, 2021)
criteria provided, multiple submitters, no conflicts
42.
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
43.
GRCh37:
Chr7:66460303-66460304
GRCh38:
Chr7:66995316-66995317
SBDSN34fsShwachman-Diamond syndrome 1Pathogenic
(Mar 1, 2004)
no assertion criteria provided
44.
GRCh37:
Chr7:66460381
GRCh38:
Chr7:66995394
SBDSN8KShwachman-Diamond syndrome 1Uncertain significance
(Apr 16, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr7:66459197
GRCh38:
Chr7:66994210
SBDSShwachman syndrome, Aplastic anemia, Shwachman-Diamond syndrome 1,
Inborn genetic diseases, not specified, not provided,
Aplastic anemia, Shwachman-Diamond syndrome 1, Deeply set eye,
Microcephaly, SplenomegalyAgenesis of permanent teeth,
Short stature, ...see more
Pathogenic/Likely pathogenic
(Feb 12, 2023)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr7:66459273-66459274
GRCh38:
Chr7:66994286-66994287
SBDSK62*Inborn genetic diseases, Aplastic anemia, Shwachman-Diamond syndrome 1,
not provided, Shwachman-Diamond syndrome 1
Pathogenic
(Sep 2, 2022)
criteria provided, multiple submitters, no conflicts
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