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Items: 28

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
ABCC6Pseudoxanthoma elasticumPathogenic
(Apr 1, 2006)
no assertion criteria provided
2.
GRCh37:
Chr16:16244463
GRCh38:
Chr16:16150606
ABCC6Pseudoxanthoma elasticum, not specifiedConflicting interpretations of pathogenicity
(Mar 28, 2016)
criteria provided, conflicting interpretations
3.
GRCh37:
Chr16:16244594-16244595
GRCh38:
Chr16:16150737-16150738
ABCC6Pseudoxanthoma elasticumPathogenic
(Apr 1, 2006)
no assertion criteria provided
4.
GRCh37:
Chr16:16244622
GRCh38:
Chr16:16150765
ABCC6Pseudoxanthoma elasticum, Generalized arterial calcification of infancy 2Pathogenic
(Jan 1, 2010)
no assertion criteria provided
5.
GRCh37:
Chr16:16248756
GRCh38:
Chr16:16154899
ABCC6Pseudoxanthoma elasticumPathogenic
(Oct 1, 2002)
no assertion criteria provided
6.
GRCh37:
Chr16:16248810
GRCh38:
Chr16:16154953
ABCC6Pseudoxanthoma elasticumPathogenic
(May 10, 2002)
no assertion criteria provided
7.
GRCh37:
Chr16:16248831
GRCh38:
Chr16:16154974
ABCC6Pseudoxanthoma elasticum, Generalized arterial calcification of infancy 2, not provided
Pathogenic
(Apr 26, 2017)
criteria provided, single submitter
8.
GRCh37:
Chr16:16248867
GRCh38:
Chr16:16155010
ABCC6Pseudoxanthoma elasticum, not providedPathogenic
(Mar 12, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr16:16248879
GRCh38:
Chr16:16155022
ABCC6Pseudoxanthoma elasticumPathogenic
(May 10, 2002)
no assertion criteria provided
10.
GRCh37:
Chr16:16251599
GRCh38:
Chr16:16157742
ABCC6Pseudoxanthoma elasticum, not providedConflicting interpretations of pathogenicity
(May 23, 2000)
no assertion criteria provided
11.
GRCh37:
Chr16:16251627
GRCh38:
Chr16:16157770
ABCC6Pseudoxanthoma elasticumPathogenic
(Dec 1, 2009)
no assertion criteria provided
12.
GRCh37:
Chr16:16251667
GRCh38:
Chr16:16157810
ABCC6Pseudoxanthoma elasticum, Generalized arterial calcification of infancy 2Pathogenic
(Jan 13, 2012)
no assertion criteria provided
13.
GRCh37:
Chr16:16253362
GRCh38:
Chr16:16159505
ABCC6Pseudoxanthoma elasticumPathogenic
(Mar 1, 2004)
no assertion criteria provided
14.
GRCh37:
Chr16:16256866
GRCh38:
Chr16:16163009
ABCC6Pseudoxanthoma elasticum, not providedPathogenic
(Sep 14, 2016)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr16:16256935
GRCh38:
Chr16:16163078
ABCC6Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Generalized arterial calcification of infancy 2,
not provided, Cutis laxa, Papule
Pathogenic
(Apr 26, 2017)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr16:16256943
GRCh38:
Chr16:16163086
ABCC6Pseudoxanthoma elasticumPathogenic
(Jun 1, 2000)
no assertion criteria provided
17.
GRCh37:
Chr16:16256944
GRCh38:
Chr16:16163087
ABCC6Pseudoxanthoma elasticum, not providedPathogenic
(Jan 9, 2017)
criteria provided, single submitter
18.
GRCh37:
Chr16:16256967
GRCh38:
Chr16:16163110
ABCC6Pseudoxanthoma elasticumPathogenic
(Mar 1, 2004)
no assertion criteria provided
19.
GRCh37:
Chr16:16257015
GRCh38:
Chr16:16163158
ABCC6Pseudoxanthoma elasticumPathogenic
(Jun 1, 2000)
no assertion criteria provided
20.
GRCh37:
Chr16:16259479
GRCh38:
Chr16:16165622
ABCC6Pseudoxanthoma elasticumPathogenic
(Dec 15, 2014)
criteria provided, single submitter
21.
GRCh37:
Chr16:16263684
GRCh38:
Chr16:16169827
ABCC6Pseudoxanthoma elasticumPathogenic
(Mar 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr16:16267140
GRCh38:
Chr16:16173283
ABCC6Pseudoxanthoma elasticum, Generalized arterial calcification of infancy 2, not provided
Pathogenic
(Apr 26, 2017)
criteria provided, single submitter
23.
GRCh37:
Chr16:16272776
GRCh38:
Chr16:16178919
ABCC6Pseudoxanthoma elasticum, Generalized arterial calcification of infancy 2Pathogenic
(Jan 1, 2010)
no assertion criteria provided
24.
GRCh37:
Chr16:16284104
GRCh38:
Chr16:16190247
ABCC6Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Generalized arterial calcification of infancy 2,
not provided
Pathogenic
(Apr 26, 2017)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr16:16295915-16295947
GRCh38:
Chr16:16202058-16202090
ABCC6Pseudoxanthoma elasticumPathogenic
(Mar 1, 2004)
no assertion criteria provided
26.
GRCh37:
Chr16:16302586
GRCh38:
Chr16:16208729
ABCC6Pseudoxanthoma elasticum, not providedLikely benign
(Jun 29, 2015)
criteria provided, single submitter
27.
GRCh37:
Chr16:16245108-16261530
GRCh38:
Chr16:16151251-16167673
ABCC6Pseudoxanthoma elasticumPathogenic
(Mar 1, 2001)
no assertion criteria provided
28.
GRCh37:
Chr16:15796991-16317329
GRCh38:
Chr16:15703134-16223472
ABCC6, ABCC1, MYH11, NDE1, FOPNLPseudoxanthoma elasticumPathogenic
(Apr 1, 2006)
no assertion criteria provided
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