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Items: 13

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:66453459
GRCh38:
Chr7:66988472
SBDSShwachman syndromePathogenic
(Jul 17, 2008)
no assertion criteria provided
2.
GRCh37:
Chr7:66453460
GRCh38:
Chr7:66988473
SBDSShwachman syndromeGO-ESP:0.03937(A)
GMAF:0.01820(A)
Benign
(Jul 17, 2008)
no assertion criteria provided
3.
GRCh37:
Chr7:66453476
GRCh38:
Chr7:66988489
SBDSShwachman syndrome, not specifiedGO-ESP:0.02791(G)
GMAF:0.01700(G)
Benign
(Jul 10, 2015)
criteria provided, single submitter
4.
GRCh37:
Chr7:66456123
GRCh38:
Chr7:66991136
SBDSShwachman syndromePathogenic
(Jul 17, 2008)
no assertion criteria provided
5.
GRCh37:
Chr7:66456243
GRCh38:
Chr7:66991256
SBDSShwachman syndromePathogenic
(Jul 17, 2008)
no assertion criteria provided
6.
GRCh37:
Chr7:66458286
GRCh38:
Chr7:66993299
SBDSShwachman syndromePathogenic
(Jul 17, 2008)
no assertion criteria provided
7.
GRCh37:
Chr7:66458363-66458366
GRCh38:
Chr7:66993376-66993379
SBDSShwachman syndromePathogenic
(Jul 17, 2008)
no assertion criteria provided
8.
GRCh37:
Chr7:66459197
GRCh38:
Chr7:66994210
SBDSShwachman syndrome, Aplastic anemia, susceptibility toGO-ESP:0.00284(G)
GMAF:0.00160(G)
Pathogenic, risk factor
(Jul 17, 2008)
no assertion criteria provided
9.
GRCh37:
Chr7:66459198
GRCh38:
Chr7:66994211
SBDSShwachman syndromePathogenic
(Jul 17, 2008)
no assertion criteria provided
10.
GRCh37:
Chr7:66459256
GRCh38:
Chr7:66994269
SBDSShwachman syndromeGO-ESP:0.08204(C)
GMAF:0.05030(C)
Benign
(Jul 17, 2008)
no assertion criteria provided
11.
GRCh37:
Chr7:66459273-66459274
GRCh38:
Chr7:66994286-66994287
SBDSShwachman syndromePathogenic
(Jul 17, 2008)
no assertion criteria provided
12.
GRCh37:
Chr7:66459316
GRCh38:
Chr7:66994329
SBDSShwachman syndromeGO-ESP:0.00600(A)
GMAF:0.01380(A)
Benign
(Jul 17, 2008)
no assertion criteria provided
13.
GRCh37:
Chr7:66460286
GRCh38:
Chr7:66995299
SBDSShwachman syndromePathogenic
(Jul 17, 2008)
no assertion criteria provided
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