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Items: 52

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr20:47538400
GRCh38:
Chr20:48921863
ARFGEF2not specifiedLikely benign
(Nov 19, 2015)
criteria provided, single submitter
2.
GRCh37:
Chr20:47538402
GRCh38:
Chr20:48921865
ARFGEF2not specifiedLikely benign
(Jul 31, 2017)
criteria provided, single submitter
3.
GRCh37:
Chr20:47538403-47538426
GRCh38:
Chr20:48921866-48921889
ARFGEF2not specifiedLikely benign
(Nov 25, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr20:47558417
GRCh38:
Chr20:48941880
ARFGEF2not specified, not provided, Periventricular Heterotopia
Conflicting interpretations of pathogenicity
(Jan 26, 2017)
criteria provided, conflicting interpretations
5.
GRCh37:
Chr20:47567868
GRCh38:
Chr20:48951331
ARFGEF2not specifiedLikely benign
(Feb 28, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr20:47567874
GRCh38:
Chr20:48951337
ARFGEF2not specifiedLikely benign
(Jan 15, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr20:47568009
GRCh38:
Chr20:48951472
ARFGEF2not specified, Periventricular HeterotopiaBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr20:47569225
GRCh38:
Chr20:48952688
ARFGEF2not specifiedLikely benign
(Feb 8, 2017)
criteria provided, single submitter
9.
GRCh37:
Chr20:47569226
GRCh38:
Chr20:48952689
ARFGEF2not specifiedBenign
(Oct 30, 2013)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr20:47570114
GRCh38:
Chr20:48953577
ARFGEF2Heterotopia, periventricular, autosomal recessive, not specifiedUncertain significance
(Jan 19, 2017)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr20:47570145
GRCh38:
Chr20:48953608
ARFGEF2Seizures, not provided, Hydrocephalus,
Global developmental delay
Pathogenic/Likely pathogenic
(Mar 10, 2015)
criteria provided, single submitter
12.
GRCh37:
Chr20:47570259
GRCh38:
Chr20:48953722
ARFGEF2not specifiedLikely benign
(Jan 26, 2017)
criteria provided, single submitter
13.
GRCh37:
Chr20:47570296
GRCh38:
Chr20:48953759
ARFGEF2not specified, Periventricular HeterotopiaConflicting interpretations of pathogenicity
(Jul 6, 2017)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr20:47570300
GRCh38:
Chr20:48953763
ARFGEF2not specified, Periventricular HeterotopiaConflicting interpretations of pathogenicity
(Jul 7, 2017)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr20:47580375
GRCh38:
Chr20:48963838
ARFGEF2not specified, Periventricular HeterotopiaUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr20:47580444
GRCh38:
Chr20:48963907
ARFGEF2not specified, not providedConflicting interpretations of pathogenicity
(Feb 19, 2016)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr20:47580452
GRCh38:
Chr20:48963915
ARFGEF2not specifiedLikely benign
(Mar 11, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr20:47582456
GRCh38:
Chr20:48965919
ARFGEF2not specifiedUncertain significance
(Sep 21, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr20:47585809
GRCh38:
Chr20:48969272
ARFGEF2not specifiedConflicting interpretations of pathogenicity
(Jun 22, 2017)
criteria provided, conflicting interpretations
20.
GRCh37:
Chr20:47587741
GRCh38:
Chr20:48971204
ARFGEF2not specified, Periventricular HeterotopiaConflicting interpretations of pathogenicity
(Oct 3, 2017)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr20:47587755
GRCh38:
Chr20:48971218
ARFGEF2not specifiedUncertain significance
(Jan 20, 2017)
criteria provided, single submitter
22.
GRCh37:
Chr20:47587902
GRCh38:
Chr20:48971365
ARFGEF2not specified, Periventricular HeterotopiaConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr20:47587906
GRCh38:
Chr20:48971369
ARFGEF2not specified, Periventricular HeterotopiaConflicting interpretations of pathogenicity
(Mar 30, 2017)
criteria provided, conflicting interpretations
24.
GRCh37:
Chr20:47588949
GRCh38:
Chr20:48972412
ARFGEF2not specifiedBenign/Likely benign
(Aug 2, 2016)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr20:47592666
GRCh38:
Chr20:48976129
ARFGEF2not specified, Periventricular HeterotopiaConflicting interpretations of pathogenicity
(Jul 31, 2017)
criteria provided, conflicting interpretations
26.
GRCh37:
Chr20:47592742
GRCh38:
Chr20:48976205
ARFGEF2not specifiedUncertain significance
(Jun 23, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr20:47601317
GRCh38:
Chr20:48984780
ARFGEF2not specifiedUncertain significance
(Mar 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr20:47601974
GRCh38:
Chr20:48985437
ARFGEF2not specifiedLikely benign
(Oct 6, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr20:47601980
GRCh38:
Chr20:48985443
ARFGEF2not specifiedUncertain significance
(Apr 27, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr20:47606077
GRCh38:
Chr20:48989540
ARFGEF2not specifiedUncertain significance
(Oct 6, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr20:47606084
GRCh38:
Chr20:48989547
ARFGEF2not specified, Periventricular HeterotopiaConflicting interpretations of pathogenicity
(Sep 6, 2017)
criteria provided, conflicting interpretations
32.
GRCh37:
Chr20:47606184
GRCh38:
Chr20:48989647
ARFGEF2not specifiedUncertain significance
(Jun 20, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr20:47606236
GRCh38:
Chr20:48989699
ARFGEF2not specifiedConflicting interpretations of pathogenicity
(Feb 15, 2018)
criteria provided, conflicting interpretations
34.
GRCh37:
Chr20:47606241
GRCh38:
Chr20:48989704
ARFGEF2not specifiedLikely benign
(Jul 17, 2017)
criteria provided, single submitter
35.
GRCh37:
Chr20:47607570
GRCh38:
Chr20:48991033
ARFGEF2not specified, not provided, Periventricular Heterotopia
Conflicting interpretations of pathogenicity
(Oct 6, 2016)
criteria provided, conflicting interpretations
36.
GRCh37:
Chr20:47610970
GRCh38:
Chr20:48994433
ARFGEF2not specifiedLikely benign
(Oct 26, 2015)
criteria provided, single submitter
37.
GRCh37:
Chr20:47611060
GRCh38:
Chr20:48994523
ARFGEF2not specified, Periventricular HeterotopiaUncertain significance
(Nov 18, 2016)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr20:47611121
GRCh38:
Chr20:48994584
ARFGEF2not specifiedUncertain significance
(Jun 13, 2017)
criteria provided, single submitter
39.
GRCh37:
Chr20:47611134
GRCh38:
Chr20:48994597
ARFGEF2not specifiedLikely benign
(Feb 24, 2017)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr20:47612375
GRCh38:
Chr20:48995838
ARFGEF2not specified, Periventricular HeterotopiaConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
41.
GRCh37:
Chr20:47612437
GRCh38:
Chr20:48995900
ARFGEF2not specifiedLikely benign
(Jun 1, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr20:47614790
GRCh38:
Chr20:48998253
ARFGEF2not specifiedLikely benign
(Oct 26, 2017)
criteria provided, single submitter
43.
GRCh37:
Chr20:47614933
GRCh38:
Chr20:48998396
ARFGEF2not specifiedUncertain significance
(Sep 22, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr20:47626847
GRCh38:
Chr20:49010310
ARFGEF2not specified, Periventricular HeterotopiaBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr20:47626865
GRCh38:
Chr20:49010328
ARFGEF2not specifiedLikely benign
(Dec 16, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr20:47628573
GRCh38:
Chr20:49012036
ARFGEF2not specifiedLikely benign
(Feb 15, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr20:47628595
GRCh38:
Chr20:49012058
ARFGEF2not specifiedUncertain significance
(Oct 6, 2016)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr20:47630185
GRCh38:
Chr20:49013648
ARFGEF2not specifiedUncertain significance
(Jan 9, 2017)
criteria provided, single submitter
49.
GRCh37:
Chr20:47630249
GRCh38:
Chr20:49013712
ARFGEF2not specifiedLikely benign
(Jan 16, 2017)
criteria provided, single submitter
50.
GRCh37:
Chr20:47632849
GRCh38:
Chr20:49016312
ARFGEF2not specifiedLikely benign
(Feb 19, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr20:47641884
GRCh38:
Chr20:49025347
ARFGEF2not specifiedUncertain significance
(Mar 1, 2017)
criteria provided, single submitter
52.
GRCh37:
Chr20:47649606
GRCh38:
Chr20:49033069
ARFGEF2not specifiedUncertain significance
(Feb 16, 2017)
criteria provided, multiple submitters, no conflicts
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