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Items: 41

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:73442551
GRCh38:
Chr7:74028221
ELNSupravalvar aortic stenosis, not specifiedUncertain significance
(Feb 13, 2017)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr7:73442560
GRCh38:
Chr7:74028230
ELNSupravalvar aortic stenosisPathogenic
(Mar 2, 2012)
criteria provided, single submitter
3.
GRCh37:
Chr7:73449742
GRCh38:
Chr7:74035412
ELNSupravalvar aortic stenosisPathogenic
(Mar 19, 2013)
criteria provided, single submitter
4.
GRCh37:
Chr7:73452044
GRCh38:
Chr7:74037714
ELNSupravalvar aortic stenosisPathogenic
(Jul 6, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr7:73455561
GRCh38:
Chr7:74041231
ELNSupravalvar aortic stenosis, not specified, Cutis laxa, autosomal dominant
Benign/Likely benign
(Jul 11, 2017)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr7:73457506
GRCh38:
Chr7:74043176
ELNSupravalvar aortic stenosis, not specified, Cutis laxa, autosomal dominant
Benign/Likely benign
(Jul 26, 2017)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr7:73458216
GRCh38:
Chr7:74043886
ELNSupravalvar aortic stenosisPathogenic
(Nov 23, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr7:73458255
GRCh38:
Chr7:74043925
ELNnot specifiedUncertain significance
(Mar 8, 2011)
criteria provided, single submitter
9.
GRCh37:
Chr7:73461062
GRCh38:
Chr7:74046732
ELNSupravalvar aortic stenosisPathogenic
(Apr 26, 2013)
criteria provided, single submitter
10.
GRCh37:
Chr7:73461088
GRCh38:
Chr7:74046758
ELNSupravalvar aortic stenosisPathogenic
(Apr 20, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr7:73462047-73462051
GRCh38:
Chr7:74047717-74047721
ELNnot specifiedUncertain significance
(Mar 23, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr7:73462527
GRCh38:
Chr7:74048197
ELNSupravalvar aortic stenosisLikely pathogenic
(May 27, 2011)
criteria provided, single submitter
13.
GRCh37:
Chr7:73466077
GRCh38:
Chr7:74051747
ELNSupravalvar aortic stenosis, not provided, Inborn genetic diseases
Pathogenic
(Jul 17, 2017)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr7:73466078
GRCh38:
Chr7:74051748
ELNSupravalvar aortic stenosisPathogenic
(Jul 27, 2017)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr7:73466142
GRCh38:
Chr7:74051812
ELNSupravalvar aortic stenosis, not providedPathogenic
(Jun 25, 2014)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr7:73466171
GRCh38:
Chr7:74051841
ELNSupravalvar aortic stenosisPathogenic
(Jun 16, 2011)
criteria provided, single submitter
17.
GRCh37:
Chr7:73466252
GRCh38:
Chr7:74051922
ELNSupravalvar aortic stenosisPathogenic
(Mar 2, 2012)
criteria provided, single submitter
18.
GRCh37:
Chr7:73467686-73467689
GRCh38:
Chr7:74053356-74053359
ELNnot specifiedBenign
(Mar 28, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr7:73469045
GRCh38:
Chr7:74054715
ELNSupravalvar aortic stenosisPathogenic
(Nov 29, 2013)
criteria provided, single submitter
20.
GRCh37:
Chr7:73469062
GRCh38:
Chr7:74054732
ELNSupravalvar aortic stenosisPathogenic
(Aug 23, 2013)
criteria provided, single submitter
21.
GRCh37:
Chr7:73469100
GRCh38:
Chr7:74054770
ELNHypertelorism, Supravalvar aortic stenosis, not provided,
Abnormality of digit, Venous malformation, Dural ectasia
Pathogenic/Likely pathogenic
(Jun 14, 2017)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr7:73470603
GRCh38:
Chr7:74056273
ELNSupravalvar aortic stenosisLikely pathogenic
(Sep 28, 2011)
criteria provided, single submitter
23.
GRCh37:
Chr7:73470658
GRCh38:
Chr7:74056328
ELNSupravalvar aortic stenosisPathogenic
(Mar 2, 2012)
criteria provided, single submitter
24.
GRCh37:
Chr7:73470683
GRCh38:
Chr7:74056353
ELNnot specifiedLikely benign
(Nov 20, 2012)
criteria provided, single submitter
25.
GRCh37:
Chr7:73470714
GRCh38:
Chr7:74056384
ELNSupravalvar aortic stenosis, not specified, Cutis laxa, autosomal dominant
Benign
(Jun 6, 2017)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr7:73470719
GRCh38:
Chr7:74056389
ELNSupravalvar aortic stenosis, not specified, Cutis laxa, autosomal dominant
Likely benign
(Nov 28, 2017)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr7:73471010
GRCh38:
Chr7:74056680
ELNSupravalvar aortic stenosis, not providedPathogenic
(Jan 16, 2017)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr7:73474207
GRCh38:
Chr7:74059877
ELNnot specifiedConflicting interpretations of pathogenicity
(Sep 14, 2015)
criteria provided, conflicting interpretations
29.
GRCh37:
Chr7:73474367
GRCh38:
Chr7:74060037
ELNSupravalvar aortic stenosis, not specified, Cutis laxa, autosomal dominant
Benign/Likely benign
(May 15, 2017)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr7:73474817
GRCh38:
Chr7:74060487
ELNSupravalvar aortic stenosisLikely pathogenic
(Oct 14, 2010)
criteria provided, single submitter
31.
GRCh37:
Chr7:73474825
GRCh38:
Chr7:74060495
ELNSupravalvar aortic stenosis, not specified, Cutis laxa, autosomal dominant
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr7:73474828
GRCh38:
Chr7:74060498
ELNSupravalvar aortic stenosisPathogenic
(Jul 28, 2011)
criteria provided, single submitter
33.
GRCh37:
Chr7:73475468
GRCh38:
Chr7:74061138
ELNSupravalvar aortic stenosisPathogenic
(Jan 7, 2015)
criteria provided, single submitter
34.
GRCh37:
Chr7:73477524
GRCh38:
Chr7:74063194
ELNSupravalvar aortic stenosis, not specified, not provided,
Cutis laxa, autosomal dominant
Benign/Likely benign
(Jan 2, 2017)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr7:73477554
GRCh38:
Chr7:74063224
ELNSupravalvar aortic stenosisLikely pathogenic
(Oct 22, 2010)
criteria provided, single submitter
36.
GRCh37:
Chr7:73477700
GRCh38:
Chr7:74063370
ELNSupravalvar aortic stenosisPathogenic
(Aug 7, 2012)
criteria provided, single submitter
37.
GRCh37:
Chr7:73477983
GRCh38:
Chr7:74063653
ELNnot specifiedUncertain significance
(Feb 24, 2015)
criteria provided, single submitter
38.
GRCh37:
Chr7:73480258
GRCh38:
Chr7:74065928
ELNnot specifiedBenign
(Apr 25, 2016)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr7:73480332
GRCh38:
Chr7:74066002
ELNSupravalvar aortic stenosis, not specified, Cutis laxa, autosomal dominant
Benign
(May 2, 2017)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr7:73482987
GRCh38:
Chr7:74068657
ELNSupravalvar aortic stenosis, not specified, Cutis laxa, autosomal dominant
Likely benign
(Jan 17, 2018)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr7:73442458-73483087
ELNSupravalvar aortic stenosisPathogenic
(Jul 6, 2016)
criteria provided, single submitter
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