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Items: 44

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:44129522
Chr11:44129545
GRCh38:
Chr11:44107972
Chr11:44107995
EXT2Seizures, scoliosis, and macrocephaly syndromeGMAF:0.00020(G)
GMAF:0.00040(T)
Pathogenic
(Oct 1, 2015)
no assertion criteria provided
2.
GRCh37:
Chr11:44151577
GRCh38:
Chr11:44130027
EXT2not specifiedGMAF:0.32090(A)Benign
(Jul 17, 2014)
criteria provided, single submitter
3.
GRCh37:
Chr11:44129546
GRCh38:
Chr11:44107996
EXT2not providedGMAF:0.00040(A)Uncertain significance
(Jan 17, 2015)
criteria provided, single submitter
4.
GRCh37:
Chr11:44129290
GRCh38:
Chr11:44107740
EXT2not specifiedGMAF:0.07810(A)Benign
(Oct 20, 2014)
criteria provided, single submitter
5.
GRCh37:
Chr11:44228381
GRCh38:
Chr11:44206831
EXT2not providedGMAF:0.00060(T)Uncertain significance
(Mar 17, 2015)
criteria provided, single submitter
6.
GRCh37:
Chr11:39706376-44866811
GRCh38:
Chr11:39684826-44845260
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
7.
GRCh37:
Chr11:42575209-46136343
GRCh38:
Chr11:42553659-46114792
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
8.
GRCh37:
Chr11:44167987-44197322
GRCh38:
Chr11:44146437-44175772
EXT2See casesLikely pathogenic
(Jun 1, 2012)
no assertion criteria provided
9.
GRCh37:
Chr11:42749105-49157287
GRCh38:
Chr11:42727555-49135735
See casesLikely pathogenic
(Aug 2, 2012)
no assertion criteria provided
10.
GRCh37:
Chr11:44235599-44255702
GRCh38:
Chr11:44214049-44234152
EXT2See casesUncertain significance
(Aug 13, 2012)
no assertion criteria provided
11.
GRCh37:
Chr11:40710224-44205686
GRCh38:
Chr11:40688674-44184136
See casesLikely pathogenic
(Mar 9, 2012)
no assertion criteria provided
12.
GRCh37:
Chr11:39200802-49157287
GRCh38:
Chr11:39179252-49135735
See casesPathogenic
(Feb 8, 2011)
no assertion criteria provided
13.
GRCh37:
Chr11:41139872-48664555
GRCh38:
Chr11:41118322-48643003
See casesPathogenic
(Jul 30, 2009)
no assertion criteria provided
14.
GRCh37:
Chr11:44151640-44228427
GRCh38:
Chr11:44130090-44206877
EXT2See casesLikely benign
(Jan 27, 2011)
no assertion criteria provided
15.
GRCh37:
Chr11:40710224-44934960
GRCh38:
Chr11:40688674-44913409
See casesUncertain significance
(Feb 28, 2010)
no assertion criteria provided
16.
GRCh37:
Chr11:44165819
GRCh38:
Chr11:44144269
EXT2not specifiednot provided
(Sep 19, 2013)
no assertion provided
17.
GRCh37:
Chr11:44193165
GRCh38:
Chr11:44171615
EXT2not specifiedGMAF:0.00100(A)not provided
(Sep 19, 2013)
no assertion provided
18.
GRCh37:
Chr11:44151625
GRCh38:
Chr11:44130075
EXT2not specifiedGMAF:0.00680(T)not provided
(Sep 19, 2013)
no assertion provided
19.
GRCh37:
Chr11:44151638
GRCh38:
Chr11:44130088
EXT2not specified, not providedGMAF:0.00280(G)Uncertain significance
(Jul 17, 2014)
criteria provided, single submitter
20.
GRCh37:
Chr11:44148448
GRCh38:
Chr11:44126898
EXT2not specifiednot provided
(Sep 19, 2013)
no assertion provided
21.
GRCh37:
Chr11:44146491
GRCh38:
Chr11:44124941
EXT2not specifiedGMAF:0.00080(A)not provided
(Sep 19, 2013)
no assertion provided
22.
GRCh37:
Chr11:44135848
GRCh38:
Chr11:44114298
EXT2not specifiednot provided
(Sep 19, 2013)
no assertion provided
23.
GRCh37:
Chr11:44135818
GRCh38:
Chr11:44114268
EXT2not specifiedGMAF:0.00140(T)not provided
(Sep 19, 2013)
no assertion provided
24.
GRCh37:
Chr11:44129522
GRCh38:
Chr11:44107972
EXT2not specifiedGMAF:0.00020(G)not provided
(Sep 19, 2013)
no assertion provided
25.
GRCh37:
Chr11:44129685
GRCh38:
Chr11:44108135
EXT2not specifiedGMAF:0.00020(T)not provided
(Sep 19, 2013)
no assertion provided
26.
GRCh37:
Chr11:44129494
GRCh38:
Chr11:44107944
EXT2not specifiednot provided
(Sep 19, 2013)
no assertion provided
27.
GRCh37:
Chr11:44129782
GRCh38:
Chr11:44108232
EXT2not specifiedGMAF:0.00060(T)not provided
(Sep 19, 2013)
no assertion provided
28.
GRCh37:
Chr11:44129386
GRCh38:
Chr11:44107836
EXT2not specifiedGMAF:0.01300(G)not provided
(Sep 19, 2013)
no assertion provided
29.
GRCh37:
Chr11:44265733
GRCh38:
Chr11:44244183
EXT2not specifiednot provided
(Sep 19, 2013)
no assertion provided
30.
GRCh37:
Chr11:44255774
GRCh38:
Chr11:44234224
EXT2not specifiednot provided
(Sep 19, 2013)
no assertion provided
31.
GRCh37:
Chr11:44254000
GRCh38:
Chr11:44232450
EXT2not specifiednot provided
(Sep 19, 2013)
no assertion provided
32.
GRCh37:
Chr11:44253952
GRCh38:
Chr11:44232402
EXT2not specifiedGMAF:0.00020(G)not provided
(Sep 19, 2013)
no assertion provided
33.
GRCh37:
Chr11:44219317-44682116
GRCh38:
Chr11:44197767-44660566
EXT2, CD82, ALX4See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
34.
GRCh37:
Chr11:44135680-44193272
GRCh38:
Chr11:44114130-44171722
EXT2See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
35.
GRCh37:
Chr11:44158143-46142690
GRCh38:
Chr11:44136593-46121139
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
36.
GRCh37:
Chr11:36529830-48664555
GRCh38:
Chr11:36508280-48643003
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
37.
GRCh37:
Chr11:35685126-46981371
GRCh38:
Chr11:35663578-46959820
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
38.
GRCh37:
Chr11:44146337
GRCh38:
Chr11:44124787
EXT2Multiple exostoses type 2Pathogenic
(May 1, 2009)
no assertion criteria provided
39.
GRCh37:
Chr11:44146367
GRCh38:
Chr11:44124817
EXT2Multiple exostoses type 2Pathogenic
(May 1, 2009)
no assertion criteria provided
40.
GRCh37:
Chr11:44135774
GRCh38:
Chr11:44114224
EXT2Multiple exostoses type 2Pathogenic
(Sep 1, 1997)
no assertion criteria provided
41.
GRCh37:
Chr11:44135787
GRCh38:
Chr11:44114237
EXT2Multiple exostoses type 2Pathogenic
(May 1, 2009)
no assertion criteria provided
42.
GRCh37:
Chr11:44193293
GRCh38:
Chr11:44171743
EXT2Multiple exostoses type 2Pathogenic
(Oct 1, 1996)
no assertion criteria provided
43.
GRCh37:
Chr11:44129776
GRCh38:
Chr11:44108226
EXT2Multiple exostoses type 2Pathogenic
(May 1, 2009)
no assertion criteria provided
44.
GRCh37:
Chr11:44129716-44129719
GRCh38:
Chr11:44108166-44108169
EXT2Multiple exostoses type 2Pathogenic
(Sep 1, 1996)
no assertion criteria provided
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