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Items: 28

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:153640164
GRCh38:
ChrX:154411827
DNASE1L1, TAZnot specifiedLikely benign
(Mar 8, 2011)
criteria provided, single submitter
2.
GRCh37:
ChrX:153640193
GRCh38:
ChrX:154411856
DNASE1L1, TAZnot specifiedUncertain significance
(Mar 17, 2017)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
ChrX:153640228
GRCh38:
ChrX:154411891
DNASE1L1, TAZnot specifiedLikely benign
(Jul 15, 2010)
criteria provided, single submitter
4.
GRCh37:
ChrX:153640317
GRCh38:
ChrX:154411980
DNASE1L1, TAZnot specifiedLikely benign
(May 4, 2012)
criteria provided, single submitter
5.
GRCh37:
ChrX:153640521
GRCh38:
ChrX:154412184
TAZ3-Methylglutaconic aciduria type 2Likely pathogenic
(May 7, 2015)
criteria provided, single submitter
6.
GRCh37:
ChrX:153641841
GRCh38:
ChrX:154413504
TAZ3-Methylglutaconic aciduria type 2Likely pathogenic
(Jun 1, 2012)
criteria provided, single submitter
7.
GRCh37:
ChrX:153641844
GRCh38:
ChrX:154413507
TAZ3-Methylglutaconic aciduria type 2Pathogenic
(Mar 15, 2012)
criteria provided, single submitter
8.
GRCh37:
ChrX:153641862
GRCh38:
ChrX:154413525
TAZ3-Methylglutaconic aciduria type 2Likely pathogenic
(Jan 25, 2012)
criteria provided, single submitter
9.
GRCh37:
ChrX:153641865
GRCh38:
ChrX:154413528
TAZnot specifiedConflicting interpretations of pathogenicity
(Nov 5, 2013)
criteria provided, conflicting interpretations
10.
GRCh37:
ChrX:153641881
GRCh38:
ChrX:154413544
TAZ3-Methylglutaconic aciduria type 2Likely pathogenic
(Aug 10, 2012)
criteria provided, single submitter
11.
GRCh37:
ChrX:153642425
GRCh38:
ChrX:154414088
TAZnot specifiedUncertain significance
(Dec 9, 2011)
criteria provided, single submitter
12.
GRCh37:
ChrX:153642450
GRCh38:
ChrX:154414113
TAZ3-Methylglutaconic aciduria type 2, Endocardial fibroelastosis, not specified,
Dilated cardiomyopathy 3B, not provided, Left ventricular noncompaction cardiomyopathy,
Cardiovascular phenotype
Benign/Likely benign
(Jul 31, 2017)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
ChrX:153642486
GRCh38:
ChrX:154414149
TAZnot specifiedUncertain significance
(Jan 24, 2014)
criteria provided, single submitter
14.
GRCh37:
ChrX:153647956
GRCh38:
ChrX:154419617
TAZ3-Methylglutaconic aciduria type 2, Endocardial fibroelastosis, not specified,
Dilated cardiomyopathy 3B, Left ventricular noncompaction cardiomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
ChrX:153648095
GRCh38:
ChrX:154419756
TAZnot specifiedLikely benign
(Jul 14, 2016)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
ChrX:153648364
GRCh38:
ChrX:154420025
TAZnot specifiedUncertain significance
(Jul 7, 2012)
criteria provided, single submitter
17.
GRCh37:
ChrX:153648377
GRCh38:
ChrX:154420038
TAZ3-Methylglutaconic aciduria type 2Likely pathogenic
(Jul 24, 2012)
criteria provided, single submitter
18.
GRCh37:
ChrX:153648447
GRCh38:
ChrX:154420108
TAZnot specifiedBenign
(Feb 12, 2014)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
ChrX:153648551
GRCh38:
ChrX:154420212
TAZ3-Methylglutaconic aciduria type 2Likely pathogenic
(Jan 27, 2012)
criteria provided, single submitter
20.
GRCh37:
ChrX:153648561
GRCh38:
ChrX:154420222
TAZ3-Methylglutaconic aciduria type 2, not specifiedLikely benign
(Aug 18, 2016)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
ChrX:153648996
GRCh38:
ChrX:154420657
TAZ3-Methylglutaconic aciduria type 2Likely pathogenic
(Sep 28, 2012)
criteria provided, single submitter
22.
GRCh37:
ChrX:153649007-153649008
GRCh38:
ChrX:154420668-154420669
TAZ3-Methylglutaconic aciduria type 2Pathogenic
(Jun 21, 2011)
criteria provided, single submitter
23.
GRCh37:
ChrX:153649015
GRCh38:
ChrX:154420676
TAZ3-Methylglutaconic aciduria type 2Pathogenic
(Mar 8, 2012)
criteria provided, single submitter
24.
GRCh37:
ChrX:153649049
GRCh38:
ChrX:154420710
TAZnot specifiedUncertain significance
(Dec 21, 2015)
criteria provided, single submitter
25.
GRCh37:
ChrX:153649218-153649235
GRCh38:
ChrX:154420879-154420896
TAZnot specifiedUncertain significance
(Mar 29, 2011)
criteria provided, single submitter
26.
GRCh37:
ChrX:153649287
GRCh38:
ChrX:154420948
TAZ3-Methylglutaconic aciduria type 2Likely pathogenic
(Apr 24, 2008)
no assertion criteria provided
27.
GRCh37:
ChrX:153649337
GRCh38:
ChrX:154420998
TAZ3-Methylglutaconic aciduria type 2, Endocardial fibroelastosis, not specified,
Dilated cardiomyopathy 3B, Left ventricular noncompaction cardiomyopathy, Cardiovascular phenotype
Benign/Likely benign
(Aug 4, 2017)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
ChrX:153640181-153641904
DNASE1L1, TAZ3-Methylglutaconic aciduria type 2Likely pathogenic
(Jan 19, 2010)
criteria provided, single submitter
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