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Items: 17

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:53222221
GRCh38:
ChrX:53193039
KDM5Cnot specifiedGO-ESP:0.00001(T)Uncertain significance
(Jan 21, 2015)
criteria provided, single submitter
2.
GRCh37:
ChrX:53223808
GRCh38:
ChrX:53194626
KDM5Cnot specifiedGO-ESP:0.00001(A)Uncertain significance
(Jun 23, 2015)
criteria provided, single submitter
3.
GRCh37:
ChrX:53225100
GRCh38:
ChrX:53195918
KDM5CMental retardation, syndromic, Claes-Jensen type, X-linkedPathogenic
(Sep 11, 2014)
criteria provided, single submitter
4.
GRCh37:
ChrX:53225231
GRCh38:
ChrX:53196049
KDM5Cnot providedUncertain significance
(Aug 28, 2013)
criteria provided, single submitter
5.
GRCh37:
ChrX:53226026
GRCh38:
ChrX:53196844
KDM5Cnot specifiedGMAF:0.00030(C)
GO-ESP:0.00120(C)
Benign/Likely benign
(Aug 24, 2015)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
ChrX:53226123
GRCh38:
ChrX:53196941
KDM5Cnot specifiedGO-ESP:0.00021(T)Uncertain significance
(May 6, 2014)
criteria provided, single submitter
7.
GRCh37:
ChrX:53227065-53227067
GRCh38:
ChrX:53197883-53197885
KDM5Cnot specified, not provided, Spastic paraplegia
GMAF:0.00190(AGT)Benign/Likely benign, not provided
(Mar 5, 2016)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
ChrX:53228159
GRCh38:
ChrX:53198977
KDM5Cnot specifiedUncertain significance
(Jan 21, 2015)
criteria provided, single submitter
9.
GRCh37:
ChrX:53230909
GRCh38:
ChrX:53201727
KDM5Cnot specifiedGO-ESP:0.01136(T)
GMAF:0.00930(T)
GO-ESP:0.00318(T)
Benign
(Jul 8, 2013)
criteria provided, single submitter
10.
GRCh37:
ChrX:53231108
GRCh38:
ChrX:53201926
KDM5Cnot specified, Spastic paraplegiaGO-ESP:0.00174(A)Conflicting interpretations of pathogenicity
(Jan 26, 2016)
criteria provided, conflicting interpretations
11.
GRCh37:
ChrX:53231138
GRCh38:
ChrX:53201956
KDM5Cnot specified, Spastic paraplegiaGMAF:0.00110(T)
GO-ESP:0.00308(T)
Benign/Likely benign
(Nov 7, 2015)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
ChrX:53239729
GRCh38:
ChrX:53210547
KDM5CMental retardation, syndromic, Claes-Jensen type, X-linkedLikely pathogenic
(Oct 31, 2014)
criteria provided, single submitter
13.
GRCh37:
ChrX:53239946
GRCh38:
ChrX:53210764
KDM5Cnot specifiedUncertain significance
(Aug 20, 2014)
criteria provided, single submitter
14.
GRCh37:
ChrX:53240975
GRCh38:
ChrX:53211793
KDM5Cnot specifiedGO-ESP:0.00237(A)
GMAF:0.00320(A)
GO-ESP:0.00107(A)
Likely benignno assertion criteria provided
15.
GRCh37:
ChrX:53246374
GRCh38:
ChrX:53217192
KDM5Cnot specifiedUncertain significance
(Jan 21, 2015)
criteria provided, single submitter
16.
GRCh37:
ChrX:53246418
GRCh38:
ChrX:53217236
KDM5Cnot specifiedGO-ESP:0.01070(T)
GMAF:0.00850(T)
GO-ESP:0.01408(T)
Benign
(Jul 8, 2013)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
ChrX:53246446
GRCh38:
ChrX:53217264
KDM5Cnot specifiedGO-ESP:0.00025(T)Uncertain significance
(Dec 16, 2014)
criteria provided, single submitter
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