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Items: 1 to 100 of 146

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:197055915
GRCh38:
Chr1:197086785
ASPMnot specifiedLikely benign
(Apr 29, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr1:197057490
GRCh38:
Chr1:197088360
ASPMnot specifiedUncertain significance
(Nov 17, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr1:197057551
GRCh38:
Chr1:197088421
ASPMPrimary autosomal recessive microcephaly 5, not specified, Primary Microcephaly, Recessive
Conflicting interpretations of pathogenicity
(Jan 5, 2017)
criteria provided, conflicting interpretations
4.
GRCh37:
Chr1:197059134
GRCh38:
Chr1:197090004
ASPMPrimary autosomal recessive microcephaly 5, not providedPathogenic
(May 24, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr1:197059382
GRCh38:
Chr1:197090252
ASPMPrimary autosomal recessive microcephaly 5, not specifiedBenign/Likely benign
(Dec 1, 2016)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr1:197059425
GRCh38:
Chr1:197090295
ASPMPrimary autosomal recessive microcephaly 5, not providedPathogenic
(Aug 8, 2016)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr1:197059458
GRCh38:
Chr1:197090328
ASPMPrimary autosomal recessive microcephaly 5, not providedPathogenic
(Dec 31, 2015)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr1:197059990
GRCh38:
Chr1:197090860
ASPMnot specifiedLikely benign
(Sep 22, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr1:197060077
GRCh38:
Chr1:197090947
ASPMPrimary autosomal recessive microcephaly 5, not specified, Primary Microcephaly, Recessive
Conflicting interpretations of pathogenicity
(Jul 22, 2016)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr1:197060162
GRCh38:
Chr1:197091032
ASPMPrimary autosomal recessive microcephaly 5, not providedPathogenic
(Jun 26, 2014)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr1:197061029
GRCh38:
Chr1:197091899
ASPMPrimary autosomal recessive microcephaly 5, not specified, Primary Microcephaly, Recessive
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
12.
GRCh37:
Chr1:197061086
GRCh38:
Chr1:197091956
ASPMPrimary autosomal recessive microcephaly 5, not specified, Primary Microcephaly, Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr1:197061098
GRCh38:
Chr1:197091968
ASPMnot specifiedUncertain significance
(Jan 16, 2017)
criteria provided, single submitter
14.
GRCh37:
Chr1:197061144
GRCh38:
Chr1:197092014
ASPMnot providedPathogenic
(May 24, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr1:197062222
GRCh38:
Chr1:197093092
ASPMnot specified, Primary Microcephaly, RecessiveConflicting interpretations of pathogenicity
(Jul 28, 2016)
criteria provided, conflicting interpretations
16.
GRCh37:
Chr1:197062230
GRCh38:
Chr1:197093100
ASPMnot specified, Primary Microcephaly, RecessiveConflicting interpretations of pathogenicity
(Jun 20, 2016)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr1:197062286
GRCh38:
Chr1:197093156
ASPMPrimary autosomal recessive microcephaly 5, not providedPathogenic
(Dec 31, 2015)
criteria provided, single submitter
18.
GRCh37:
Chr1:197062298
GRCh38:
Chr1:197093168
ASPMPrimary autosomal recessive microcephaly 5, not providedPathogenic
(May 4, 2015)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr1:197063292
GRCh38:
Chr1:197094162
ASPMnot specifiedLikely benign
(Jul 7, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr1:197065149
GRCh38:
Chr1:197096019
ASPMnot specifiedUncertain significance
(Dec 3, 2015)
criteria provided, single submitter
21.
GRCh37:
Chr1:197069554
GRCh38:
Chr1:197100424
ASPMnot specified, Primary Microcephaly, RecessiveBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr1:197069624
GRCh38:
Chr1:197100494
ASPMnot specifiedLikely benign
(May 3, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr1:197069669-197069670
GRCh38:
Chr1:197100539-197100540
ASPMPrimary autosomal recessive microcephaly 5, not providedPathogenic
(Apr 16, 2015)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr1:197069782
GRCh38:
Chr1:197100652
ASPMnot providedPathogenic
(Dec 15, 2015)
criteria provided, single submitter
25.
GRCh37:
Chr1:197069874-197069875
GRCh38:
Chr1:197100744-197100745
ASPMPrimary autosomal recessive microcephaly 5, not providedPathogenic
(Sep 15, 2016)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr1:197070010
GRCh38:
Chr1:197100880
ASPMnot specifiedUncertain significance
(Jul 8, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr1:197070072
GRCh38:
Chr1:197100942
ASPMnot specifiedConflicting interpretations of pathogenicity
(Jan 6, 2017)
criteria provided, conflicting interpretations
28.
GRCh37:
Chr1:197070126
GRCh38:
Chr1:197100996
ASPMnot specifiedLikely benign
(Jun 2, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr1:197070257
GRCh38:
Chr1:197101127
ASPMnot providedPathogenic
(Apr 24, 2015)
criteria provided, single submitter
30.
GRCh37:
Chr1:197070313
GRCh38:
Chr1:197101183
ASPMnot specifiedUncertain significance
(Apr 13, 2016)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr1:197070338
GRCh38:
Chr1:197101208
ASPMnot providedPathogenic
(Aug 15, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr1:197070464
GRCh38:
Chr1:197101334
ASPMnot specified, Primary Microcephaly, RecessiveConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr1:197070521
GRCh38:
Chr1:197101391
ASPMPrimary autosomal recessive microcephaly 5, not specified, Primary Microcephaly, Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr1:197070594
GRCh38:
Chr1:197101464
ASPMnot specified, Primary Microcephaly, RecessiveBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr1:197070595-197070598
GRCh38:
Chr1:197101465-197101468
ASPMnot providedPathogenic
(Apr 17, 2017)
criteria provided, single submitter
36.
GRCh37:
Chr1:197070598-197070599
GRCh38:
Chr1:197101468-197101469
ASPMPrimary autosomal recessive microcephaly 5, not providedPathogenic
(Oct 10, 2016)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr1:197070629
GRCh38:
Chr1:197101499
ASPMnot specifiedLikely benign
(May 23, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr1:197070680
GRCh38:
Chr1:197101550
ASPMnot specifiedLikely benign
(Feb 4, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr1:197070707
GRCh38:
Chr1:197101577
ASPMPrimary autosomal recessive microcephaly 5, not specified, Primary Microcephaly, Recessive
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr1:197070711
GRCh38:
Chr1:197101581
ASPMPrimary autosomal recessive microcephaly 5, not specified, Primary Microcephaly, Recessive
Uncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr1:197070761
GRCh38:
Chr1:197101631
ASPMnot specified, Primary Microcephaly, RecessiveConflicting interpretations of pathogenicity
(Oct 3, 2016)
criteria provided, conflicting interpretations
42.
GRCh37:
Chr1:197070776
GRCh38:
Chr1:197101646
ASPMPrimary autosomal recessive microcephaly 5, not specified, Primary Microcephaly, Recessive
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr1:197070830
GRCh38:
Chr1:197101700
ASPMPrimary autosomal recessive microcephaly 5, not specified, Primary Microcephaly, Recessive
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr1:197070901
GRCh38:
Chr1:197101771
ASPMPrimary autosomal recessive microcephaly 5, not specified, Primary Microcephaly, Recessive
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr1:197070906
GRCh38:
Chr1:197101776
ASPMnot specified, Primary Microcephaly, RecessiveConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
46.
GRCh37:
Chr1:197070955
GRCh38:
Chr1:197101825
ASPMnot specifiedUncertain significance
(Dec 16, 2013)
criteria provided, single submitter
47.
GRCh37:
Chr1:197071028
GRCh38:
Chr1:197101898
ASPMnot specified, Primary Microcephaly, RecessiveConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr1:197071085
GRCh38:
Chr1:197101955
ASPMnot providedPathogenic
(May 9, 2014)
criteria provided, single submitter
49.
GRCh37:
Chr1:197071275
GRCh38:
Chr1:197102145
ASPMnot specifiedLikely benign
(Jun 2, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr1:197071358
GRCh38:
Chr1:197102228
ASPMnot specified, Primary Microcephaly, RecessiveConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
51.
GRCh37:
Chr1:197071462-197071465
GRCh38:
Chr1:197102332-197102335
ASPMnot providedLikely pathogenic
(Nov 4, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr1:197071568
GRCh38:
Chr1:197102438
ASPMnot specifiedLikely benign
(Jan 3, 2017)
criteria provided, single submitter
53.
GRCh37:
Chr1:197071606
GRCh38:
Chr1:197102476
ASPMnot specifiedBenign/Likely benign
(Jun 9, 2016)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr1:197071654
GRCh38:
Chr1:197102524
ASPMnot specified, not providedBenign/Likely benign
(Sep 12, 2016)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr1:197071664
GRCh38:
Chr1:197102534
ASPMPrimary autosomal recessive microcephaly 5, not specifiedConflicting interpretations of pathogenicity
(Nov 9, 2016)
criteria provided, conflicting interpretations
56.
GRCh37:
Chr1:197071679
GRCh38:
Chr1:197102549
ASPMnot specifiedLikely benign
(Nov 3, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr1:197071695
GRCh38:
Chr1:197102565
ASPMnot specifiedUncertain significance
(Dec 16, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr1:197071830
GRCh38:
Chr1:197102700
ASPMnot specified, Primary Microcephaly, RecessiveConflicting interpretations of pathogenicity
(Nov 7, 2016)
criteria provided, conflicting interpretations
59.
GRCh37:
Chr1:197071867
GRCh38:
Chr1:197102737
ASPMnot specifiedLikely benign
(May 23, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr1:197072043-197072044
GRCh38:
Chr1:197102913-197102914
ASPMPrimary autosomal recessive microcephaly 5, not providedPathogenic
(Apr 21, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr1:197072106
GRCh38:
Chr1:197102976
ASPMnot specifiedUncertain significance
(Mar 2, 2015)
criteria provided, single submitter
62.
GRCh37:
Chr1:197072197-197072198
GRCh38:
Chr1:197103067-197103068
ASPMnot providedPathogenic
(Apr 13, 2015)
criteria provided, single submitter
63.
GRCh37:
Chr1:197072274
GRCh38:
Chr1:197103144
ASPMnot specified, Primary Microcephaly, RecessiveUncertain significance
(Feb 7, 2017)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr1:197072391
GRCh38:
Chr1:197103261
ASPMnot specifiedUncertain significance
(Sep 12, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr1:197072560
GRCh38:
Chr1:197103430
ASPMnot specified, Primary Microcephaly, RecessiveBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr1:197072640
GRCh38:
Chr1:197103510
ASPMnot specified, Primary Microcephaly, RecessiveConflicting interpretations of pathogenicity
(Jul 8, 2016)
criteria provided, conflicting interpretations
67.
GRCh37:
Chr1:197072696-197072700
GRCh38:
Chr1:197103566-197103570
ASPMnot providedPathogenic
(Feb 24, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr1:197072752
GRCh38:
Chr1:197103622
ASPMnot specified, Primary Microcephaly, RecessiveConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr1:197072802
GRCh38:
Chr1:197103672
ASPMnot specified, Primary Microcephaly, RecessiveBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr1:197072909
GRCh38:
Chr1:197103779
ASPMnot specifiedLikely benign
(Mar 29, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr1:197072929
GRCh38:
Chr1:197103799
ASPMPrimary autosomal recessive microcephaly 5, not specified, Primary Microcephaly, Recessive
Uncertain significance
(Oct 12, 2016)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr1:197073157
GRCh38:
Chr1:197104027
ASPMPrimary autosomal recessive microcephaly 5, not specifiedConflicting interpretations of pathogenicity
(May 24, 2016)
criteria provided, conflicting interpretations
73.
GRCh37:
Chr1:197073279-197073280
GRCh38:
Chr1:197104149-197104150
ASPMnot providedPathogenic
(Feb 24, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr1:197073298
GRCh38:
Chr1:197104168
ASPMnot specified, Primary Microcephaly, RecessiveBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr1:197073318
GRCh38:
Chr1:197104188
ASPMnot specified, Primary Microcephaly, RecessiveBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr1:197073648
GRCh38:
Chr1:197104518
ASPMPrimary autosomal recessive microcephaly 5, not specifiedConflicting interpretations of pathogenicity
(Sep 15, 2016)
criteria provided, conflicting interpretations
77.
GRCh37:
Chr1:197073649
GRCh38:
Chr1:197104519
ASPMnot providedLikely pathogenic
(Nov 4, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr1:197073885
GRCh38:
Chr1:197104755
ASPMPrimary autosomal recessive microcephaly 5, not specifiedUncertain significance
(Apr 23, 2015)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr1:197073930
GRCh38:
Chr1:197104800
ASPMnot specifiedUncertain significance
(Dec 8, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr1:197073959
GRCh38:
Chr1:197104829
ASPMnot providedPathogenic
(Dec 15, 2015)
criteria provided, single submitter
81.
GRCh37:
Chr1:197073979
GRCh38:
Chr1:197104849
ASPMnot specifiedUncertain significance
(Feb 9, 2017)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr1:197074018
GRCh38:
Chr1:197104888
ASPMnot providedPathogenic
(Dec 8, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr1:197074164-197074165
GRCh38:
Chr1:197105034-197105035
ASPMnot specifiedUncertain significance
(Feb 24, 2017)
criteria provided, single submitter
84.
GRCh37:
Chr1:197074168
GRCh38:
Chr1:197105038
ASPMnot specified, not provided, Primary Microcephaly, Recessive
Conflicting interpretations of pathogenicity
(Sep 29, 2016)
criteria provided, conflicting interpretations
85.
GRCh37:
Chr1:197074246
GRCh38:
Chr1:197105116
ASPMnot specifiedUncertain significance
(Sep 20, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr1:197074325
GRCh38:
Chr1:197105195
ASPMnot specifiedLikely benign
(Apr 4, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr1:197086951
GRCh38:
Chr1:197117821
ASPMnot specifiedLikely benign
(Apr 4, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr1:197087038-197087039
GRCh38:
Chr1:197117908-197117909
ASPMPrimary autosomal recessive microcephaly 5, not providedPathogenic
(Feb 10, 2017)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr1:197087072
GRCh38:
Chr1:197117942
ASPMnot specified, Primary Microcephaly, RecessiveBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr1:197091119
GRCh38:
Chr1:197121989
ASPMPrimary autosomal recessive microcephaly 5, not providedPathogenic
(Jul 13, 2015)
criteria provided, single submitter
91.
GRCh37:
Chr1:197091124
GRCh38:
Chr1:197121994
ASPMnot specified, Primary Microcephaly, RecessiveConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
92.
GRCh37:
Chr1:197091143
GRCh38:
Chr1:197122013
ASPMnot specifiedUncertain significance
(Sep 12, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr1:197091183
GRCh38:
Chr1:197122053
ASPMnot specified, Primary Microcephaly, RecessiveConflicting interpretations of pathogenicity
(Aug 3, 2016)
criteria provided, conflicting interpretations
94.
GRCh37:
Chr1:197091286
GRCh38:
Chr1:197122156
ASPMnot specified, Primary Microcephaly, RecessiveConflicting interpretations of pathogenicity
(Oct 6, 2016)
criteria provided, conflicting interpretations
95.
GRCh37:
Chr1:197091332
GRCh38:
Chr1:197122202
ASPMPrimary autosomal recessive microcephaly 5, not specifiedUncertain significance
(Jul 5, 2016)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr1:197091435
GRCh38:
Chr1:197122305
ASPMPrimary autosomal recessive microcephaly 5, not specifiedConflicting interpretations of pathogenicity
(Dec 16, 2016)
criteria provided, conflicting interpretations
97.
GRCh37:
Chr1:197091569
GRCh38:
Chr1:197122439
ASPMnot specifiedUncertain significance
(Apr 11, 2017)
criteria provided, single submitter
98.
GRCh37:
Chr1:197091688
GRCh38:
Chr1:197122558
ASPMnot providedPathogenic
(Apr 25, 2016)
criteria provided, single submitter
99.
GRCh37:
Chr1:197091739
GRCh38:
Chr1:197122609
ASPMnot specified, Primary Microcephaly, RecessiveBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr1:197093263
GRCh38:
Chr1:197124133
ASPMnot specifiedUncertain significance
(Oct 28, 2016)
criteria provided, single submitter
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