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Items: 1 to 100 of 378

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
2.
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
3.
ABCC6Pseudoxanthoma elasticumPathogeniccriteria provided, single submitter
4.
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
5.
ABCC6Pseudoxanthoma elasticumPathogenic
(Apr 1, 2006)
no assertion criteria provided
6.
GRCh37:
Chr16:16243952
GRCh38:
Chr16:16150095
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
7.
GRCh37:
Chr16:16243973
GRCh38:
Chr16:16150116
ABCC6Pseudoxanthoma elasticumPathogeniccriteria provided, single submitter
8.
GRCh37:
Chr16:16244001
GRCh38:
Chr16:16150144
ABCC6Pseudoxanthoma elasticumPathogeniccriteria provided, single submitter
9.
GRCh37:
Chr16:16244054
GRCh38:
Chr16:16150197
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
10.
GRCh37:
Chr16:16244061
GRCh38:
Chr16:16150204
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
11.
GRCh37:
Chr16:16244068
GRCh38:
Chr16:16150211
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
12.
GRCh37:
Chr16:16244082
GRCh38:
Chr16:16150225
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
13.
GRCh37:
Chr16:16244424
GRCh38:
Chr16:16150567
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
14.
GRCh37:
Chr16:16244434
GRCh38:
Chr16:16150577
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
15.
GRCh37:
Chr16:16244457
GRCh38:
Chr16:16150600
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
16.
GRCh37:
Chr16:16244461
GRCh38:
Chr16:16150604
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
17.
GRCh37:
Chr16:16244463
GRCh38:
Chr16:16150606
ABCC6Pseudoxanthoma elasticum, not specifiedConflicting interpretations of pathogenicity
(Mar 28, 2016)
criteria provided, conflicting interpretations
18.
GRCh37:
Chr16:16244497
GRCh38:
Chr16:16150640
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
19.
GRCh37:
Chr16:16244503
GRCh38:
Chr16:16150646
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
20.
GRCh37:
Chr16:16244514
GRCh38:
Chr16:16150657
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
21.
GRCh37:
Chr16:16244520
GRCh38:
Chr16:16150663
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
22.
GRCh37:
Chr16:16244526-16244532
GRCh38:
Chr16:16150669-16150675
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
23.
GRCh37:
Chr16:16244533
GRCh38:
Chr16:16150676
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
24.
GRCh37:
Chr16:16244567
GRCh38:
Chr16:16150710
ABCC6Pseudoxanthoma elasticumPathogeniccriteria provided, single submitter
25.
GRCh37:
Chr16:16244584
GRCh38:
Chr16:16150727
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
26.
GRCh37:
Chr16:16244584
GRCh38:
Chr16:16150727
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
27.
GRCh37:
Chr16:16244585
GRCh38:
Chr16:16150728
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
28.
GRCh37:
Chr16:16244594-16244595
GRCh38:
Chr16:16150737-16150738
ABCC6Pseudoxanthoma elasticumPathogenic
(Apr 1, 2006)
no assertion criteria provided
29.
GRCh37:
Chr16:16244597
GRCh38:
Chr16:16150740
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
30.
GRCh37:
Chr16:16244618-16244619
GRCh38:
Chr16:16150761-16150762
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
31.
GRCh37:
Chr16:16244622
GRCh38:
Chr16:16150765
ABCC6Pseudoxanthoma elasticum, Generalized arterial calcification of infancy 2Pathogenic
(Jan 1, 2010)
no assertion criteria provided
32.
GRCh37:
Chr16:16244625
GRCh38:
Chr16:16150768
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
33.
GRCh37:
Chr16:16244629
GRCh38:
Chr16:16150772
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
34.
GRCh37:
Chr16:16244631
GRCh38:
Chr16:16150774
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
35.
GRCh37:
Chr16:16245107-16261514
GRCh38:
Chr16:16151250-16167657
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
36.
GRCh37:
Chr16:16248476
GRCh38:
Chr16:16154619
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
37.
GRCh37:
Chr16:16248495
GRCh38:
Chr16:16154638
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
38.
GRCh37:
Chr16:16248501
GRCh38:
Chr16:16154644
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
39.
GRCh37:
Chr16:16248504
GRCh38:
Chr16:16154647
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
40.
GRCh37:
Chr16:16248511
GRCh38:
Chr16:16154654
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
41.
GRCh37:
Chr16:16248511
GRCh38:
Chr16:16154654
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
42.
GRCh37:
Chr16:16248589
GRCh38:
Chr16:16154732
ABCC6Pseudoxanthoma elasticum, Abnormality of the eyePathogenic
(Jan 1, 2015)
criteria provided, single submitter
43.
GRCh37:
Chr16:16248612
GRCh38:
Chr16:16154755
ABCC6Pseudoxanthoma elasticum, not providedPathogenic
(Aug 18, 2015)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr16:16248624
GRCh38:
Chr16:16154767
ABCC6Pseudoxanthoma elasticum, not providedConflicting interpretations of pathogenicityno assertion criteria provided
45.
GRCh37:
Chr16:16248633
GRCh38:
Chr16:16154776
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
46.
GRCh37:
Chr16:16248645
GRCh38:
Chr16:16154788
ABCC6Pseudoxanthoma elasticumPathogeniccriteria provided, single submitter
47.
GRCh37:
Chr16:16248730
GRCh38:
Chr16:16154873
ABCC6Pseudoxanthoma elasticumPathogeniccriteria provided, single submitter
48.
GRCh37:
Chr16:16248735
GRCh38:
Chr16:16154878
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
49.
GRCh37:
Chr16:16248746
GRCh38:
Chr16:16154889
ABCC6Pseudoxanthoma elasticumPathogeniccriteria provided, single submitter
50.
GRCh37:
Chr16:16248755
GRCh38:
Chr16:16154898
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
51.
GRCh37:
Chr16:16248755
GRCh38:
Chr16:16154898
ABCC6Pseudoxanthoma elasticum, not providedPathogenic/Likely pathogenic
(Mar 4, 2016)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr16:16248756
GRCh38:
Chr16:16154899
ABCC6Pseudoxanthoma elasticumPathogenic
(Oct 1, 2002)
no assertion criteria provided
53.
GRCh37:
Chr16:16248767
GRCh38:
Chr16:16154910
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
54.
GRCh37:
Chr16:16248767
GRCh38:
Chr16:16154910
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
55.
GRCh37:
Chr16:16248772
GRCh38:
Chr16:16154915
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
56.
GRCh37:
Chr16:16248793
GRCh38:
Chr16:16154936
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
57.
GRCh37:
Chr16:16248795
GRCh38:
Chr16:16154938
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
58.
GRCh37:
Chr16:16248800
GRCh38:
Chr16:16154943
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
59.
GRCh37:
Chr16:16248810
GRCh38:
Chr16:16154953
ABCC6Pseudoxanthoma elasticumPathogenic
(May 10, 2002)
criteria provided, single submitter
60.
GRCh37:
Chr16:16248818
GRCh38:
Chr16:16154961
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
61.
GRCh37:
Chr16:16248830
GRCh38:
Chr16:16154973
ABCC6Pseudoxanthoma elasticum, not specifiedConflicting interpretations of pathogenicity
(Mar 28, 2016)
criteria provided, conflicting interpretations
62.
GRCh37:
Chr16:16248831
GRCh38:
Chr16:16154974
ABCC6Pseudoxanthoma elasticum, Generalized arterial calcification of infancy 2, not provided
Pathogenic
(Sep 27, 2017)
criteria provided, single submitter
63.
GRCh37:
Chr16:16248839
GRCh38:
Chr16:16154982
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
64.
GRCh37:
Chr16:16248852
GRCh38:
Chr16:16154995
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
65.
GRCh37:
Chr16:16248859
GRCh38:
Chr16:16155002
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
66.
GRCh37:
Chr16:16248864
GRCh38:
Chr16:16155007
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
67.
GRCh37:
Chr16:16248867
GRCh38:
Chr16:16155010
ABCC6Pseudoxanthoma elasticum, not providedPathogenic
(May 8, 2017)
criteria provided, single submitter
68.
GRCh37:
Chr16:16248869
GRCh38:
Chr16:16155012
ABCC6Pseudoxanthoma elasticumPathogeniccriteria provided, single submitter
69.
GRCh37:
Chr16:16248876
GRCh38:
Chr16:16155019
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
70.
GRCh37:
Chr16:16248879
GRCh38:
Chr16:16155022
ABCC6Pseudoxanthoma elasticumPathogenic
(May 10, 2002)
criteria provided, single submitter
71.
GRCh37:
Chr16:16248893
GRCh38:
Chr16:16155036
ABCC6Pseudoxanthoma elasticumPathogeniccriteria provided, single submitter
72.
GRCh37:
Chr16:16248894
GRCh38:
Chr16:16155037
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
73.
GRCh37:
Chr16:16248898
GRCh38:
Chr16:16155041
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
74.
GRCh37:
Chr16:16248912
GRCh38:
Chr16:16155055
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
75.
GRCh37:
Chr16:16249938-16258055
GRCh38:
Chr16:16156081-16164198
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
76.
GRCh37:
Chr16:16251519-16251526
GRCh38:
Chr16:16157662-16157669
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
77.
GRCh37:
Chr16:16251520-16251522
GRCh38:
Chr16:16157663-16157665
ABCC6Pseudoxanthoma elasticumPathogeniccriteria provided, single submitter
78.
GRCh37:
Chr16:16251525
GRCh38:
Chr16:16157668
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
79.
GRCh37:
Chr16:16251531
GRCh38:
Chr16:16157674
ABCC6Pseudoxanthoma elasticum, not specifiedConflicting interpretations of pathogenicity
(Mar 20, 2015)
criteria provided, conflicting interpretations
80.
GRCh37:
Chr16:16251533-16251536
GRCh38:
Chr16:16157676-16157679
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
81.
GRCh37:
Chr16:16251534-16251581
GRCh38:
Chr16:16157677-16157724
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
82.
GRCh37:
Chr16:16251574-16251586
GRCh38:
Chr16:16157717-16157729
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
83.
GRCh37:
Chr16:16251579
GRCh38:
Chr16:16157722
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
84.
GRCh37:
Chr16:16251584
GRCh38:
Chr16:16157727
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
85.
GRCh37:
Chr16:16251599
GRCh38:
Chr16:16157742
ABCC6Pseudoxanthoma elasticum, not providedConflicting interpretations of pathogenicity
(May 23, 2000)
criteria provided, conflicting interpretations
86.
GRCh37:
Chr16:16251604
GRCh38:
Chr16:16157747
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
87.
GRCh37:
Chr16:16251612
GRCh38:
Chr16:16157755
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
88.
GRCh37:
Chr16:16251615
GRCh38:
Chr16:16157758
ABCC6Pseudoxanthoma elasticumPathogeniccriteria provided, single submitter
89.
GRCh37:
Chr16:16251625
GRCh38:
Chr16:16157768
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
90.
GRCh37:
Chr16:16251626-16251627
GRCh38:
Chr16:16157769-16157770
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
91.
GRCh37:
Chr16:16251627-16251628
GRCh38:
Chr16:16157770-16157771
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
92.
GRCh37:
Chr16:16251627
GRCh38:
Chr16:16157770
ABCC6Pseudoxanthoma elasticumPathogenic
(Dec 1, 2009)
no assertion criteria provided
93.
GRCh37:
Chr16:16251667
GRCh38:
Chr16:16157810
ABCC6Pseudoxanthoma elasticum, Generalized arterial calcification of infancy 2Pathogenic
(Jan 13, 2012)
no assertion criteria provided
94.
GRCh37:
Chr16:16253339
GRCh38:
Chr16:16159482
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
95.
GRCh37:
Chr16:16253339
GRCh38:
Chr16:16159482
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
96.
GRCh37:
Chr16:16253351
GRCh38:
Chr16:16159494
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
97.
GRCh37:
Chr16:16253352
GRCh38:
Chr16:16159495
ABCC6Pseudoxanthoma elasticumPathogeniccriteria provided, single submitter
98.
GRCh37:
Chr16:16253357
GRCh38:
Chr16:16159500
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
99.
GRCh37:
Chr16:16253359
GRCh38:
Chr16:16159502
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
100.
GRCh37:
Chr16:16253362
GRCh38:
Chr16:16159505
ABCC6Pseudoxanthoma elasticumPathogenic
(Mar 1, 2004)
no assertion criteria provided
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