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Results: 55

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
B9D1Meckel syndrome, type 9Pathogenic
(Apr 22, 2015)
no assertion criteria provided
2.
GRCh37:
Chr17:19251095
GRCh38:
Chr17:19347782
B9D1Meckel syndrome, type 9, not providedGO-ESP:0.00015(G)
GMAF:0.00020(G)
Pathogenic/Likely pathogenic
(Apr 22, 2015)
no assertion criteria provided
3.
GRCh37:
Chr17:16329947-20901901
GRCh38:
Chr17:16426633-20998588
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
4.
GRCh37:
Chr17:15754173-20552548
GRCh38:
Chr17:15850859-20649235
See casesPathogenic
(Oct 17, 2013)
no assertion criteria provided
5.
GRCh37:
Chr17:16756434-20339795
GRCh38:
Chr17:16853120-20436482
See casesPathogenic
(Sep 18, 2013)
no assertion criteria provided
6.
GRCh37:
Chr17:15633207-20413564
GRCh38:
Chr17:15729893-20510251
See casesPathogenic
(Jun 25, 2013)
no assertion criteria provided
7.
GRCh37:
Chr17:16621729-20449523
GRCh38:
Chr17:16718415-20546210
See casesPathogenic
(May 7, 2013)
no assertion criteria provided
8.
GRCh37:
Chr17:16600022-20396173
GRCh38:
Chr17:16696708-20492860
See casesPathogenic
(Mar 24, 2014)
no assertion criteria provided
9.
GRCh37:
Chr17:16761814-20462650
GRCh38:
Chr17:16858500-20559337
See casesPathogenic
(Mar 4, 2013)
no assertion criteria provided
10.
GRCh37:
Chr17:16603130-20331605
GRCh38:
Chr17:16699816-20428292
See casesPathogenic
(Jan 9, 2013)
no assertion criteria provided
11.
GRCh37:
Chr17:15786351-20561331
GRCh38:
Chr17:15883037-20658018
See casesPathogenic
(Dec 10, 2012)
no assertion criteria provided
12.
GRCh37:
Chr17:16761814-20474268
GRCh38:
Chr17:16858500-20570955
See casesPathogenic
(Sep 23, 2013)
no assertion criteria provided
13.
GRCh37:
Chr17:16741411-20339728
GRCh38:
Chr17:16838097-20436415
See casesPathogenic
(Aug 5, 2013)
no assertion criteria provided
14.
GRCh37:
Chr17:16922265-20051943
GRCh38:
Chr17:17018951-20148630
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
15.
GRCh37:
Chr17:16603130-20395527
GRCh38:
Chr17:16699816-20492214
See casesPathogenic
(Jan 14, 2013)
no assertion criteria provided
16.
GRCh37:
Chr17:16603008-20433959
GRCh38:
Chr17:16699694-20530646
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
17.
GRCh37:
Chr17:16559476-20294010
GRCh38:
Chr17:16656162-20390697
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
18.
GRCh37:
Chr17:15786351-20524013
GRCh38:
Chr17:15883037-20620700
See casesLikely pathogenic
(Jun 20, 2011)
no assertion criteria provided
19.
GRCh37:
Chr17:16892401-20274129
GRCh38:
Chr17:16989087-20370816
See casesPathogenic
(Jul 9, 2012)
no assertion criteria provided
20.
GRCh37:
Chr17:16757564-20463361
GRCh38:
Chr17:16854250-20560048
See casesPathogenic
(Aug 2, 2012)
no assertion criteria provided
21.
GRCh37:
Chr17:16757564-20395527
GRCh38:
Chr17:16854250-20492214
See casesPathogenic
(Mar 27, 2012)
no assertion criteria provided
22.
GRCh37:
Chr17:18762602-20219464
GRCh38:
Chr17:18859289-20316151
See casesLikely pathogenic
(Mar 9, 2012)
no assertion criteria provided
23.
GRCh37:
Chr17:16603130-20294038
GRCh38:
Chr17:16699816-20390725
See casesLikely benign
(Nov 21, 2011)
no assertion criteria provided
24.
GRCh37:
Chr17:16637902-20219464
GRCh38:
Chr17:16734588-20316151
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
25.
GRCh37:
Chr17:16637902-20294038
GRCh38:
Chr17:16734588-20390725
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
26.
GRCh37:
Chr17:16637872-20294010
GRCh38:
Chr17:16734558-20390697
See casesPathogenic
(Oct 30, 2010)
no assertion criteria provided
27.
GRCh37:
Chr17:16637872-20294010
GRCh38:
Chr17:16734558-20390697
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
28.
GRCh37:
Chr17:16782547-20294010
GRCh38:
Chr17:16879233-20390697
See casesPathogenic
(Oct 30, 2010)
no assertion criteria provided
29.
GRCh37:
Chr17:17234825-19925841
GRCh38:
Chr17:17331511-20022528
See casesPathogenic
(Oct 20, 2010)
no assertion criteria provided
30.
GRCh37:
Chr17:16757564-20395482
GRCh38:
Chr17:16854250-20492169
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
31.
GRCh37:
Chr17:18775930-20219464
GRCh38:
Chr17:18872617-20316151
See casesPathogenic
(May 27, 2010)
no assertion criteria provided
32.
GRCh37:
Chr17:16782546-20219464
GRCh38:
Chr17:16879232-20316151
See casesPathogenic
(May 27, 2010)
no assertion criteria provided
33.
GRCh37:
Chr17:16761758-20368380
GRCh38:
Chr17:16858444-20465067
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
34.
GRCh37:
Chr17:16761758-20243755
GRCh38:
Chr17:16858444-20340442
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
35.
GRCh37:
Chr17:16740141-20368380
GRCh38:
Chr17:16836827-20465067
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
36.
GRCh37:
Chr17:16664132-20294038
GRCh38:
Chr17:16760818-20390725
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
37.
GRCh37:
Chr17:15963443-20524154
GRCh38:
Chr17:16060129-20620841
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
38.
GRCh37:
Chr17:19143173-21433444
GRCh38:
Chr17:19239860-21530183
See casesUncertain significance
(Aug 12, 2011)
no assertion criteria provided
39.
GRCh37:
Chr17:18974003-21522709
GRCh38:
Chr17:19070690-21619442
See casesUncertain significance
(Aug 12, 2011)
no assertion criteria provided
40.
GRCh37:
Chr17:18731402-20371077
GRCh38:
Chr17:18828089-20467764
See casesUncertain significance
(Aug 12, 2011)
no assertion criteria provided
41.
GRCh37:
Chr17:16822683-20193169
GRCh38:
Chr17:16919369-20289856
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
42.
GRCh37:
Chr17:16740141-20408162
GRCh38:
Chr17:16836827-20504849
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
43.
GRCh37:
Chr17:16740141-20243755
GRCh38:
Chr17:16836827-20340442
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
44.
GRCh37:
Chr17:16664132-20408162
GRCh38:
Chr17:16760818-20504849
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
45.
GRCh37:
Chr17:16664131-20333083
GRCh38:
Chr17:16760817-20429770
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
46.
GRCh37:
Chr17:16616829-20243755
GRCh38:
Chr17:16713515-20340442
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
47.
GRCh37:
Chr17:16616828-20485840
GRCh38:
Chr17:16713514-20582527
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
48.
GRCh37:
Chr17:16595776-20294038
GRCh38:
Chr17:16692462-20390725
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
49.
GRCh37:
Chr17:16559482-20294038
GRCh38:
Chr17:16656168-20390725
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
50.
GRCh37:
Chr17:15801146-20524154
GRCh38:
Chr17:15897832-20620841
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
51.
GRCh37:
Chr17:15162481-20828612
GRCh38:
Chr17:15259164-20925299
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
52.
GRCh37:
Chr17:15138002-20524013
GRCh38:
Chr17:15234685-20620700
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
53.
GRCh37:
Chr17:16782546-20294038
GRCh38:
Chr17:16879232-20390725
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
54.
GRCh37:
Chr17:16782546-20294038
GRCh38:
Chr17:16879232-20390725
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
55.
GRCh37:
Chr17:15801346-20524013
GRCh38:
Chr17:15898032-20620700
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided

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