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Items: 1 to 100 of 146

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:47716957
GRCh38:
Chr1:47251285
STILPrimary autosomal recessive microcephaly 7Pathogenic
(Sep 1, 2009)
no assertion criteria provided
2.
GRCh37:
Chr1:47717017
GRCh38:
Chr1:47251345
STILPrimary autosomal recessive microcephaly 7Pathogenic
(Sep 1, 2009)
no assertion criteria provided
3.
GRCh37:
Chr1:47717238
GRCh38:
Chr1:47251566
STILPrimary autosomal recessive microcephaly 7, not specifiedGMAF:0.00100(A)Benign/Likely benign
(Jun 2, 2015)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr1:47726084
GRCh38:
Chr1:47260412
STILPrimary autosomal recessive microcephaly 7Benign
(Sep 1, 2009)
no assertion criteria provided
5.
GRCh37:
Chr1:47726183
GRCh38:
Chr1:47260511
STILPrimary autosomal recessive microcephaly 7Benign
(Sep 1, 2009)
no assertion criteria provided
6.
GRCh37:
Chr1:47728574
GRCh38:
Chr1:47262902
STILPrimary autosomal recessive microcephaly 7Pathogenic
(Sep 1, 2009)
no assertion criteria provided
7.
GRCh37:
Chr1:47746867
GRCh38:
Chr1:47281195
STILPrimary autosomal recessive microcephaly 7Benign
(Sep 1, 2009)
no assertion criteria provided
8.
GRCh37:
Chr1:47746868
GRCh38:
Chr1:47281196
STILPrimary autosomal recessive microcephaly 7Benign
(Sep 1, 2009)
no assertion criteria provided
9.
GRCh37:
Chr1:47767914
GRCh38:
Chr1:47302242
STILPrimary autosomal recessive microcephaly 7, not specifiedGO-ESP:0.59311(A)
GMAF:0.39360(G)
Benign/Likely benign
(Sep 1, 2009)
no assertion criteria provided
10.
GRCh37:
Chr1:197057488
GRCh38:
Chr1:197088358
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
11.
GRCh37:
Chr1:197059059
GRCh38:
Chr1:197089929
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
12.
GRCh37:
Chr1:197059203
GRCh38:
Chr1:197090073
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
13.
GRCh37:
Chr1:197059366
GRCh38:
Chr1:197090236
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
14.
GRCh37:
Chr1:197059382
GRCh38:
Chr1:197090252
ASPMPrimary autosomal recessive microcephaly 5, not specifiedGO-ESP:0.00738(C)
GMAF:0.00640(C)
Benign
(Feb 8, 2013)
criteria provided, single submitter
15.
GRCh37:
Chr1:197059401
GRCh38:
Chr1:197090271
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
16.
GRCh37:
Chr1:197059409-197059410
GRCh38:
Chr1:197090279-197090280
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
17.
GRCh37:
Chr1:197059425
GRCh38:
Chr1:197090295
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
18.
GRCh37:
Chr1:197059458
GRCh38:
Chr1:197090328
ASPMPrimary autosomal recessive microcephaly 5, not providedPathogenic
(Dec 31, 2015)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr1:197059465-197059469
GRCh38:
Chr1:197090335-197090339
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
20.
GRCh37:
Chr1:197059474
GRCh38:
Chr1:197090344
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
21.
GRCh37:
Chr1:197059478
GRCh38:
Chr1:197090348
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
22.
GRCh37:
Chr1:197060021
GRCh38:
Chr1:197090891
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
23.
GRCh37:
Chr1:197060059
GRCh38:
Chr1:197090929
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
24.
GRCh37:
Chr1:197060077
GRCh38:
Chr1:197090947
ASPMPrimary autosomal recessive microcephaly 5, not providedGMAF:0.01140(G)Conflicting interpretations of pathogenicity
(Apr 16, 2014)
criteria provided, conflicting interpretations
25.
GRCh37:
Chr1:197060109
GRCh38:
Chr1:197090979
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
26.
GRCh37:
Chr1:197060124
GRCh38:
Chr1:197090994
ASPMPrimary autosomal recessive microcephaly 5GMAF:0.00220(G)Pathogenic
(Sep 1, 2009)
no assertion criteria provided
27.
GRCh37:
Chr1:197061086
GRCh38:
Chr1:197091956
ASPMPrimary autosomal recessive microcephaly 5, not specifiedGO-ESP:0.03475(C)
GMAF:0.01500(C)
Benign
(Dec 18, 2013)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr1:197061162
GRCh38:
Chr1:197092032
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
29.
GRCh37:
Chr1:197062238
GRCh38:
Chr1:197093108
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
30.
GRCh37:
Chr1:197062286
GRCh38:
Chr1:197093156
ASPMPrimary autosomal recessive microcephaly 5, not providedPathogenic
(Dec 31, 2015)
criteria provided, single submitter
31.
GRCh37:
Chr1:197062298
GRCh38:
Chr1:197093168
ASPMPrimary autosomal recessive microcephaly 5, not providedGO-ESP:0.00008(A)
GMAF:0.00040(A)
Pathogenic
(May 4, 2015)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr1:197062317
GRCh38:
Chr1:197093187
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
33.
GRCh37:
Chr1:197062357-197062358
GRCh38:
Chr1:197093227-197093228
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
34.
GRCh37:
Chr1:197065271
GRCh38:
Chr1:197096141
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
35.
GRCh37:
Chr1:197069713
GRCh38:
Chr1:197100583
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
36.
GRCh37:
Chr1:197069872-197069873
GRCh38:
Chr1:197100742-197100743
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
37.
GRCh37:
Chr1:197070003
GRCh38:
Chr1:197100873
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
38.
GRCh37:
Chr1:197070108
GRCh38:
Chr1:197100978
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
39.
GRCh37:
Chr1:197070190-197070191
GRCh38:
Chr1:197101060-197101061
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
40.
GRCh37:
Chr1:197070250-197070251
GRCh38:
Chr1:197101120-197101121
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
41.
GRCh37:
Chr1:197070442
GRCh38:
Chr1:197101312
ASPMPrimary autosomal recessive microcephaly 5, not specifiedGO-ESP:0.32290(T)
GMAF:0.21430(T)
Benign
(Feb 8, 2013)
criteria provided, single submitter
42.
GRCh37:
Chr1:197070487
GRCh38:
Chr1:197101357
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
43.
GRCh37:
Chr1:197070521
GRCh38:
Chr1:197101391
ASPMPrimary autosomal recessive microcephaly 5, not specifiedGO-ESP:0.05052(G)
GMAF:0.02880(G)
Benign
(Mar 31, 2014)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr1:197070521-197070522
GRCh38:
Chr1:197101391-197101392
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
45.
GRCh37:
Chr1:197070598-197070599
GRCh38:
Chr1:197101468-197101469
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Dec 20, 2013)
criteria provided, single submitter
46.
GRCh37:
Chr1:197070620
GRCh38:
Chr1:197101490
ASPMPrimary autosomal recessive microcephaly 5GMAF:0.00020(G)Pathogenic
(Sep 1, 2009)
no assertion criteria provided
47.
GRCh37:
Chr1:197070697
GRCh38:
Chr1:197101567
ASPMPrimary autosomal recessive microcephaly 5, not specifiedGO-ESP:0.32108(C)
GMAF:0.21430(C)
Benign
(Feb 8, 2013)
criteria provided, single submitter
48.
GRCh37:
Chr1:197070707
GRCh38:
Chr1:197101577
ASPMPrimary autosomal recessive microcephaly 5, not specifiedGO-ESP:0.32172(A)
GMAF:0.21430(A)
Benign
(Dec 18, 2013)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr1:197070776
GRCh38:
Chr1:197101646
ASPMPrimary autosomal recessive microcephaly 5, not specifiedGO-ESP:0.11486(T)
GMAF:0.29490(T)
Benign
(Dec 17, 2013)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr1:197070815
GRCh38:
Chr1:197101685
ASPMPrimary autosomal recessive microcephaly 5, not specifiedGO-ESP:0.78692(C)
GMAF:0.18410(T)
Benign/Likely benign
(Feb 27, 2014)
criteria provided, single submitter
51.
GRCh37:
Chr1:197070888-197070892
GRCh38:
Chr1:197101758-197101762
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
52.
GRCh37:
Chr1:197070901
GRCh38:
Chr1:197101771
ASPMPrimary autosomal recessive microcephaly 5, not specifiedGO-ESP:0.99569(G)
GMAF:0.00260(A)
Benign
(Feb 27, 2014)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr1:197070920
GRCh38:
Chr1:197101790
ASPMPrimary autosomal recessive microcephaly 5Benign
(Sep 1, 2009)
no assertion criteria provided
54.
GRCh37:
Chr1:197071649
GRCh38:
Chr1:197102519
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
55.
GRCh37:
Chr1:197071727-197071730
GRCh38:
Chr1:197102597-197102600
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
56.
GRCh37:
Chr1:197072045-197072046
GRCh38:
Chr1:197102915-197102916
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
57.
GRCh37:
Chr1:197072149
GRCh38:
Chr1:197103019
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
58.
GRCh37:
Chr1:197072192
GRCh38:
Chr1:197103062
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
59.
GRCh37:
Chr1:197072420
GRCh38:
Chr1:197103290
ASPMPrimary autosomal recessive microcephaly 5, not specifiedGO-ESP:0.32134(C)
GMAF:0.21310(C)
Benign
(Feb 8, 2013)
criteria provided, single submitter
60.
GRCh37:
Chr1:197073232
GRCh38:
Chr1:197104102
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
61.
GRCh37:
Chr1:197073245
GRCh38:
Chr1:197104115
ASPMPrimary autosomal recessive microcephaly 5GO-ESP:0.00008(T)Pathogenic
(Sep 1, 2009)
no assertion criteria provided
62.
GRCh37:
Chr1:197073525-197073526
GRCh38:
Chr1:197104395-197104396
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
63.
GRCh37:
Chr1:197073586
GRCh38:
Chr1:197104456
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
64.
GRCh37:
Chr1:197073800
GRCh38:
Chr1:197104670
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
65.
GRCh37:
Chr1:197073932
GRCh38:
Chr1:197104802
ASPMPrimary autosomal recessive microcephaly 5, not specifiedGO-ESP:0.32237(C)
GMAF:0.21450(C)
Benign
(Apr 15, 2015)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr1:197074186
GRCh38:
Chr1:197105056
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
67.
GRCh37:
Chr1:197074307
GRCh38:
Chr1:197105177
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
68.
GRCh37:
Chr1:197087006
GRCh38:
Chr1:197117876
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
69.
GRCh37:
Chr1:197091104
GRCh38:
Chr1:197121974
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
70.
GRCh37:
Chr1:197091119
GRCh38:
Chr1:197121989
ASPMPrimary autosomal recessive microcephaly 5, not providedPathogenic
(Jul 13, 2015)
criteria provided, single submitter
71.
GRCh37:
Chr1:197091288
GRCh38:
Chr1:197122158
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
72.
GRCh37:
Chr1:197091320
GRCh38:
Chr1:197122190
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
73.
GRCh37:
Chr1:197091367
GRCh38:
Chr1:197122237
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
74.
GRCh37:
Chr1:197091537
GRCh38:
Chr1:197122407
ASPMPrimary autosomal recessive microcephaly 5, not specifiedGO-ESP:0.75473(T)
GMAF:0.21750(A)
Benign/Likely benign
(Sep 1, 2009)
no assertion criteria provided
75.
GRCh37:
Chr1:197091589
GRCh38:
Chr1:197122459
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
76.
GRCh37:
Chr1:197091635-197091639
GRCh38:
Chr1:197122505-197122509
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
77.
GRCh37:
Chr1:197091967-197113811
GRCh38:
Chr1:197122837-197144681
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
78.
GRCh37:
Chr1:197093361
GRCh38:
Chr1:197124231
ASPMPrimary autosomal recessive microcephaly 5, not specifiedGO-ESP:0.04910(A)
GMAF:0.04470(A)
Benign
(Apr 28, 2014)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr1:197093442
GRCh38:
Chr1:197124312
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
80.
GRCh37:
Chr1:197094030
GRCh38:
Chr1:197124900
ASPMPrimary autosomal recessive microcephaly 5, not specifiedGO-ESP:0.26353(T)
GMAF:0.21670(T)
Benign
(Feb 8, 2013)
criteria provided, single submitter
81.
GRCh37:
Chr1:197094176
GRCh38:
Chr1:197125046
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
82.
GRCh37:
Chr1:197094203
GRCh38:
Chr1:197125073
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
83.
GRCh37:
Chr1:197094291
GRCh38:
Chr1:197125161
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
84.
GRCh37:
Chr1:197094320
GRCh38:
Chr1:197125190
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
85.
GRCh37:
Chr1:197097615
GRCh38:
Chr1:197128485
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
86.
GRCh37:
Chr1:197097751
GRCh38:
Chr1:197128621
ASPMPrimary autosomal recessive microcephaly 5, not specifiedGO-ESP:0.00961(G)
GMAF:0.00340(G)
Benign
(Feb 8, 2013)
criteria provided, single submitter
87.
GRCh37:
Chr1:197097777
GRCh38:
Chr1:197128647
ASPMPrimary autosomal recessive microcephaly 5Benign
(Sep 1, 2009)
no assertion criteria provided
88.
GRCh37:
Chr1:197097820
GRCh38:
Chr1:197128690
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
89.
GRCh37:
Chr1:197099068
GRCh38:
Chr1:197129938
ASPMPrimary autosomal recessive microcephaly 5Benign
(Sep 1, 2009)
no assertion criteria provided
90.
GRCh37:
Chr1:197102510
GRCh38:
Chr1:197133380
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
91.
GRCh37:
Chr1:197108933
GRCh38:
Chr1:197139803
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
92.
GRCh37:
Chr1:197108946
GRCh38:
Chr1:197139816
ASPMPrimary autosomal recessive microcephaly 5, not specifiedGO-ESP:0.04506(G)
GMAF:0.01920(G)
Benign
(Feb 8, 2013)
criteria provided, single submitter
93.
GRCh37:
Chr1:197108961-197108964
GRCh38:
Chr1:197139831-197139834
ASPMPrimary autosomal recessive microcephaly 5, not providedPathogenic
(May 9, 2014)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr1:197111654-197111655
GRCh38:
Chr1:197142524-197142525
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
95.
GRCh37:
Chr1:197111747-197111751
GRCh38:
Chr1:197142617-197142621
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
96.
GRCh37:
Chr1:197111792
GRCh38:
Chr1:197142662
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
97.
GRCh37:
Chr1:197111969-197111976
GRCh38:
Chr1:197142839-197142846
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
98.
GRCh37:
Chr1:197112016
GRCh38:
Chr1:197142886
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
99.
GRCh37:
Chr1:197112094
GRCh38:
Chr1:197142964
ASPMPrimary autosomal recessive microcephaly 5, not specifiedGO-ESP:0.01325(C)
GMAF:0.01160(C)
Benign
(Feb 8, 2013)
criteria provided, single submitter
100.
GRCh37:
Chr1:197112116-197112122
GRCh38:
Chr1:197142986-197142992
ASPMPrimary autosomal recessive microcephaly 5Pathogenic
(Sep 1, 2009)
no assertion criteria provided
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