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Items: 1 to 100 of 130

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr9:139323201
GRCh38:
Chr9:136428749
INPP5EFamilial aplasia of the vermisGMAF:0.12780(G)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr9:139323214
GRCh38:
Chr9:136428762
INPP5EFamilial aplasia of the vermisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr9:139323311
GRCh38:
Chr9:136428859
INPP5EFamilial aplasia of the vermisGMAF:0.36580(C)Benign
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr9:139323364
GRCh38:
Chr9:136428912
INPP5EFamilial aplasia of the vermisGMAF:0.00040(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr9:139323380
GRCh38:
Chr9:136428928
INPP5EFamilial aplasia of the vermisGMAF:0.00020(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr9:139323400
GRCh38:
Chr9:136428948
INPP5EFamilial aplasia of the vermisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr9:139323406
GRCh38:
Chr9:136428954
INPP5EFamilial aplasia of the vermisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr9:139323424
GRCh38:
Chr9:136428972
INPP5EFamilial aplasia of the vermisGMAF:0.37760(C)Benign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr9:139323497
GRCh38:
Chr9:136429045
INPP5EFamilial aplasia of the vermisGMAF:0.00040(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr9:139323799
GRCh38:
Chr9:136429347
INPP5EFamilial aplasia of the vermisGMAF:0.38280(G)Benign
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr9:139323892
GRCh38:
Chr9:136429440
INPP5EFamilial aplasia of the vermisGMAF:0.00200(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr9:139324029
GRCh38:
Chr9:136429577
INPP5EFamilial aplasia of the vermisGMAF:0.14840(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr9:139324143
GRCh38:
Chr9:136429691
INPP5EFamilial aplasia of the vermisGO-ESP:0.00002(G)Uncertain significance
(Apr 9, 2015)
criteria provided, single submitter
14.
GRCh37:
Chr9:139324164-139324165
GRCh38:
Chr9:136429712-136429713
INPP5EFamilial aplasia of the vermisPathogenic
(Feb 23, 2015)
criteria provided, single submitter
15.
GRCh37:
Chr9:139324183
GRCh38:
Chr9:136429731
INPP5EMORM syndromePathogenic
(Sep 1, 2009)
no assertion criteria provided
16.
GRCh37:
Chr9:139324279
GRCh38:
Chr9:136429827
INPP5Enot specifiedGMAF:0.00040(A)
GO-ESP:0.00033(A)
Likely benigncriteria provided, single submitter
17.
GRCh37:
Chr9:139324680
GRCh38:
Chr9:136430228
INPP5Enot specifiedGMAF:0.17230(T)
GO-ESP:0.15988(T)
Benigncriteria provided, single submitter
18.
GRCh37:
Chr9:139324737
GRCh38:
Chr9:136430285
INPP5EFamilial aplasia of the vermis, not specifiedGO-ESP:0.21675(A)
GMAF:0.17390(A)
GO-ESP:0.20473(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr9:139324740
GRCh38:
Chr9:136430288
INPP5EFamilial aplasia of the vermis, not specifiedGMAF:0.12840(T)Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
20.
GRCh37:
Chr9:139324740
GRCh38:
Chr9:136430288
INPP5EFamilial aplasia of the vermis, not specifiedGO-ESP:0.09873(T)
GMAF:0.12840(T)
GO-ESP:0.13636(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr9:139324761
GRCh38:
Chr9:136430309
INPP5Enot specifiedGO-ESP:0.00628(A)
GMAF:0.00560(A)
GO-ESP:0.00285(A)
Likely benign
(Sep 16, 2013)
criteria provided, single submitter
22.
GRCh37:
Chr9:139324771
GRCh38:
Chr9:136430319
INPP5EFamilial aplasia of the vermisPathogenic
(Feb 23, 2015)
criteria provided, single submitter
23.
GRCh37:
Chr9:139324777
GRCh38:
Chr9:136430325
INPP5EFamilial aplasia of the vermisGO-ESP:0.00005(T)Pathogenic
(Feb 23, 2015)
criteria provided, single submitter
24.
GRCh37:
Chr9:139324788
GRCh38:
Chr9:136430336
INPP5EFamilial aplasia of the vermisGMAF:0.00080(T)
GO-ESP:0.00104(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr9:139324799
GRCh38:
Chr9:136430347
INPP5Enot specifiedUncertain significance
(May 30, 2014)
criteria provided, single submitter
26.
GRCh37:
Chr9:139324801
GRCh38:
Chr9:136430349
INPP5EFamilial aplasia of the vermisGMAF:0.00200(C)
GO-ESP:0.00158(C)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr9:139324843
GRCh38:
Chr9:136430391
INPP5EJoubert syndrome 1GO-ESP:0.00005(T)Pathogenic
(Sep 1, 2009)
no assertion criteria provided
28.
GRCh37:
Chr9:139324847
GRCh38:
Chr9:136430395
INPP5EFamilial aplasia of the vermisPathogenic
(Feb 23, 2015)
criteria provided, single submitter
29.
GRCh37:
Chr9:139325467
GRCh38:
Chr9:136431015
INPP5Enot specifiedGMAF:0.00040(A)
GO-ESP:0.00008(A)
Uncertain significance
(Dec 1, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr9:139325542
GRCh38:
Chr9:136431090
INPP5EFamilial aplasia of the vermisGO-ESP:0.00003(A)Pathogenic
(Feb 23, 2015)
criteria provided, single submitter
31.
GRCh37:
Chr9:139325583
GRCh38:
Chr9:136431131
INPP5EFamilial aplasia of the vermis, not specifiedGMAF:0.00400(A)
GO-ESP:0.00320(A)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
32.
GRCh37:
Chr9:139326236
GRCh38:
Chr9:136431784
INPP5Enot specifiedLikely benigncriteria provided, single submitter
33.
GRCh37:
Chr9:139326253
GRCh38:
Chr9:136431801
INPP5Enot specifiedGMAF:0.26720(C)
GO-ESP:0.00751(C)
Benigncriteria provided, single submitter
34.
GRCh37:
Chr9:139326282
GRCh38:
Chr9:136431830
INPP5Enot specifiedLikely benigncriteria provided, single submitter
35.
GRCh37:
Chr9:139326282
GRCh38:
Chr9:136431830
INPP5EJoubert syndrome 1GO-ESP:0.00002(A)Pathogenic
(Sep 1, 2009)
no assertion criteria provided
36.
GRCh37:
Chr9:139326304
GRCh38:
Chr9:136431852
INPP5EFamilial aplasia of the vermis, not specifiedGO-ESP:0.10119(A)
GMAF:0.12140(A)
GO-ESP:0.14267(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr9:139326319
GRCh38:
Chr9:136431867
INPP5EFamilial aplasia of the vermisGMAF:0.00120(T)
GO-ESP:0.00092(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr9:139326357
GRCh38:
Chr9:136431905
INPP5EFamilial aplasia of the vermisPathogenic
(Feb 23, 2015)
criteria provided, single submitter
39.
GRCh37:
Chr9:139326418
GRCh38:
Chr9:136431966
INPP5EFamilial aplasia of the vermisGO-ESP:0.00002(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr9:139326442
GRCh38:
Chr9:136431990
INPP5EFamilial aplasia of the vermisGMAF:0.00020(A)
GO-ESP:0.00005(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr9:139326450
GRCh38:
Chr9:136431998
INPP5EFamilial aplasia of the vermis, not specifiedGMAF:0.01360(A)
GO-ESP:0.00448(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr9:139326934
GRCh38:
Chr9:136432482
INPP5EFamilial aplasia of the vermisGMAF:0.00020(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr9:139326938
GRCh38:
Chr9:136432486
INPP5EFamilial aplasia of the vermisGO-ESP:0.00005(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr9:139326944
GRCh38:
Chr9:136432492
INPP5Enot specifiedLikely benigncriteria provided, single submitter
45.
GRCh37:
Chr9:139326957
GRCh38:
Chr9:136432505
INPP5Enot providedLikely pathogenic
(Jun 2, 2015)
criteria provided, single submitter
46.
GRCh37:
Chr9:139326959
GRCh38:
Chr9:136432507
INPP5EFamilial aplasia of the vermis, not specifiedGO-ESP:0.05792(A)
GMAF:0.04430(A)
GO-ESP:0.04377(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr9:139326993
GRCh38:
Chr9:136432541
INPP5EFamilial aplasia of the vermisGO-ESP:0.00010(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr9:139327014
GRCh38:
Chr9:136432562
INPP5EFamilial aplasia of the vermis, Joubert syndrome 1GO-ESP:0.00005(T)Pathogenic
(Feb 23, 2015)
criteria provided, single submitter
49.
GRCh37:
Chr9:139327019
GRCh38:
Chr9:136432567
INPP5Enot specifiedGMAF:0.00160(T)
GO-ESP:0.00112(T)
Likely benigncriteria provided, single submitter
50.
GRCh37:
Chr9:139327034
GRCh38:
Chr9:136432582
INPP5EFamilial aplasia of the vermis, not specifiedGO-ESP:0.40721(G)
GMAF:0.37780(G)
GO-ESP:0.40043(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr9:139327049
GRCh38:
Chr9:136432597
INPP5Enot specifiedLikely benigncriteria provided, single submitter
52.
GRCh37:
Chr9:139327062
GRCh38:
Chr9:136432610
INPP5Enot specifiedGMAF:0.19010(A)
GO-ESP:0.23353(A)
Benigncriteria provided, single submitter
53.
GRCh37:
Chr9:139327064
GRCh38:
Chr9:136432612
INPP5Enot specifiedGMAF:0.19090(G)
GO-ESP:0.23361(G)
Benigncriteria provided, single submitter
54.
GRCh37:
Chr9:139327394
GRCh38:
Chr9:136432942
INPP5EFamilial aplasia of the vermisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr9:139327438
GRCh38:
Chr9:136432986
INPP5EFamilial aplasia of the vermisPathogenic
(Feb 23, 2015)
criteria provided, single submitter
56.
GRCh37:
Chr9:139327439
GRCh38:
Chr9:136432987
INPP5EFamilial aplasia of the vermis, not specifiedGO-ESP:0.43601(G)
GMAF:0.37840(G)
GO-ESP:0.41940(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr9:139327496
GRCh38:
Chr9:136433044
INPP5EFamilial aplasia of the vermis, not specifiedGO-ESP:0.00016(A)Uncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr9:139327525
GRCh38:
Chr9:136433073
INPP5EFamilial aplasia of the vermisPathogenic
(Feb 23, 2015)
criteria provided, single submitter
59.
GRCh37:
Chr9:139327577
GRCh38:
Chr9:136433125
INPP5Enot specifiedGMAF:0.01080(T)
GO-ESP:0.01758(T)
Benigncriteria provided, single submitter
60.
GRCh37:
Chr9:139327581
GRCh38:
Chr9:136433129
INPP5Enot specifiedGMAF:0.01020(A)
GO-ESP:0.01732(A)
Benigncriteria provided, single submitter
61.
GRCh37:
Chr9:139327599-139327600
GRCh38:
Chr9:136433147-136433148
INPP5EFamilial aplasia of the vermis, not specifiedGO-ESP:0.24339(CGCCCACCCCTCCAGCCA)Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr9:139327599
GRCh38:
Chr9:136433147
INPP5EFamilial aplasia of the vermis, not specifiedGMAF:0.19790(A)
GO-ESP:0.01364(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr9:139327612
GRCh38:
Chr9:136433160
INPP5EFamilial aplasia of the vermisPathogenic
(Feb 23, 2015)
criteria provided, single submitter
64.
GRCh37:
Chr9:139327630
GRCh38:
Chr9:136433178
INPP5EFamilial aplasia of the vermisGO-ESP:0.00008(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr9:139327634
GRCh38:
Chr9:136433182
INPP5EJoubert syndrome 1GO-ESP:0.00031(A)
GO-ESP:0.00004(A)
Pathogenic
(Sep 1, 2009)
no assertion criteria provided
66.
GRCh37:
Chr9:139327662
GRCh38:
Chr9:136433210
INPP5EFamilial aplasia of the vermisGO-ESP:0.00001(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr9:139327702
GRCh38:
Chr9:136433250
INPP5EFamilial aplasia of the vermisPathogenic
(Feb 23, 2015)
criteria provided, single submitter
68.
GRCh37:
Chr9:139328502
GRCh38:
Chr9:136434050
INPP5EFamilial aplasia of the vermisGO-ESP:0.00001(T)Pathogenic
(Feb 23, 2015)
criteria provided, single submitter
69.
GRCh37:
Chr9:139328542
GRCh38:
Chr9:136434090
INPP5EFamilial aplasia of the vermis, not specifiedGO-ESP:0.03772(A)
GMAF:0.03630(A)
GO-ESP:0.01840(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr9:139328551
GRCh38:
Chr9:136434099
INPP5EFamilial aplasia of the vermis, not specifiedGO-ESP:0.10071(C)
GMAF:0.12380(C)
GO-ESP:0.15960(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr9:139328579
GRCh38:
Chr9:136434127
INPP5EFamilial aplasia of the vermisGO-ESP:0.00006(A)Pathogenic
(Feb 23, 2015)
criteria provided, single submitter
72.
GRCh37:
Chr9:139329221
GRCh38:
Chr9:136434769
INPP5EFamilial aplasia of the vermisGO-ESP:0.00002(T)Pathogenic
(Feb 23, 2015)
criteria provided, single submitter
73.
GRCh37:
Chr9:139329253
GRCh38:
Chr9:136434801
INPP5Enot specifiedGMAF:0.00020(T)
GO-ESP:0.00034(T)
Uncertain significance
(Feb 26, 2015)
criteria provided, single submitter
74.
GRCh37:
Chr9:139329256
GRCh38:
Chr9:136434804
INPP5Enot specifiedGO-ESP:0.00003(A)Uncertain significance
(Nov 17, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr9:139329275
GRCh38:
Chr9:136434823
INPP5Enot specifiedGO-ESP:0.00003(G)Likely benigncriteria provided, single submitter
76.
GRCh37:
Chr9:139329323
GRCh38:
Chr9:136434871
INPP5EFamilial aplasia of the vermisGO-ESP:0.00107(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr9:139333050-139333053
GRCh38:
Chr9:136438598-136438601
INPP5EFamilial aplasia of the vermisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr9:139333050-139333053
GRCh38:
Chr9:136438598-136438601
INPP5EFamilial aplasia of the vermis, not specifiedGMAF:0.03770(CCCT)Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr9:139333081
GRCh38:
Chr9:136438629
INPP5EFamilial aplasia of the vermis, not specifiedGMAF:0.00420(T)
GO-ESP:0.00267(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr9:139333236
GRCh38:
Chr9:136438784
INPP5EFamilial aplasia of the vermis, not specifiedGO-ESP:0.01123(T)
GMAF:0.01220(T)
GO-ESP:0.00379(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr9:139333269
GRCh38:
Chr9:136438817
INPP5EFamilial aplasia of the vermis, not specifiedGO-ESP:0.02186(C)
GMAF:0.00780(C)
GO-ESP:0.02163(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr9:139333300
GRCh38:
Chr9:136438848
INPP5Enot specifiedGO-ESP:0.00217(C)
GMAF:0.00360(C)
GO-ESP:0.00088(C)
Likely benignno assertion criteria provided
83.
GRCh37:
Chr9:139333325
GRCh38:
Chr9:136438873
INPP5EFamilial aplasia of the vermisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr9:139333341
GRCh38:
Chr9:136438889
INPP5EFamilial aplasia of the vermis, not specifiedGO-ESP:0.00799(T)
GMAF:0.01280(T)
GO-ESP:0.00371(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr9:139333382
GRCh38:
Chr9:136438930
INPP5Enot providedPathogenic
(Jun 15, 2015)
criteria provided, single submitter
86.
GRCh37:
Chr9:139333736
GRCh38:
Chr9:136439284
INPP5EFamilial aplasia of the vermisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr9:139333811
GRCh38:
Chr9:136439359
INPP5Enot specifiedUncertain significance
(Nov 13, 2015)
criteria provided, single submitter
88.
GRCh37:
Chr9:139333839
GRCh38:
Chr9:136439387
INPP5EFamilial aplasia of the vermis, not specifiedGO-ESP:0.01514(C)
GMAF:0.02680(C)
GO-ESP:0.00335(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr9:139333851
GRCh38:
Chr9:136439399
INPP5EFamilial aplasia of the vermisGMAF:0.00140(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
90.
GRCh37:
Chr9:139333902
GRCh38:
Chr9:136439450
INPP5EFamilial aplasia of the vermis, not specifiedGMAF:0.00540(G)Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
91.
GRCh37:
Chr9:139334045
GRCh38:
Chr9:136439593
INPP5EFamilial aplasia of the vermisGMAF:0.00680(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr9:139334110
GRCh38:
Chr9:136439658
INPP5EFamilial aplasia of the vermisGMAF:0.00360(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr9:139334142
GRCh38:
Chr9:136439690
INPP5EFamilial aplasia of the vermisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr9:139334214
GRCh38:
Chr9:136439762
INPP5EFamilial aplasia of the vermisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr9:139334218
GRCh38:
Chr9:136439766
INPP5EFamilial aplasia of the vermisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr9:163131-141122114
ABCA1, ABCA2, ABL1, ABO, ACO1, PLIN2, AK1, ALAD, ALDH1A1, ALDH1B1, ALDOB, AMBP, ANXA1, NUDT2, APBA1, AQP3, AQP7, ASS1, AUH, BAAT, BAG1, KLF9, C5, C8G, CA9, CACNA1B, CCIN, KYAT1, TNFSF8, ENTPD2, CD72, CDK9, CDKN2A, CDKN2B, CEL, CKS2, CLTA, CNTFR, COL5A1, COL15A1, SLC31A1, SLC31A2, CRAT, CTSL, CTSV, CYLC2, DAPK1, BRINP1, DBH, SARDH, DNM1, DMRT1, ECM2, TOR1A, LPAR1, S1PR3, MEGF9, ELAVL2, ENDOG, ENG, STOM, FANCC, FANCG, FBP1, FKTN, FCN1, FCN2, FOXE1, MLANA, FPGS, FXN, NR5A1, FUT7, GALT, GAS1, NR6A1, GCNT1, GGTA1P, B4GALT1, GLDC, GLE1, GNAQ, GNG10, GOLGA1, GOLGA2, GPR21, RAPGEF1, GRIN1, GSN, HNRNPK, HSD17B3, DNAJA1, HSPA5, TNC, IARS, IFNA1, IFNA2, IFNA4, IFNA5, IFNA6, IFNA7, IFNA8, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA21, IFNB1, IFNW1, IL11RA, INSL4, JAK2, LCN1, LCN2, LMX1B, MLLT3, MTAP, MUSK, NCBP1, NDUFA8, NDUFB6, NFIB, NFIL3, NFX1, NINJ1, NOTCH1, NPR2, NTRK2, ROR2, ODF2, OMD, OGN, ORM1, ORM2, PAEP, PAPPA, PAX5, PDCL, PBX3, PCSK5, PGM5, PHF2, PTPA, PPP3R2, PPP6C, PRKACG, PRSS3, PSMB7, PSMD5, PTCH1, PTGDS, PTGS1, PTPN3, PTPRD, RAD23B, RALGDS, RFX3, RGS3, RLN1, RLN2, RMRP, RORB, RPL7A, RPL12, RPS6, RXRA, CCL19, CCL21, SET, SH3GL2, SHB, SLC1A1, SMARCA2, SNAPC3, SNAPC4, SPTAN1, STXBP1, SURF1, SURF2, SURF4, MED22, SURF6, SYK, TAL2, TEK, TESK1, TGFBR1, TLE1, TLE4, TLN1, TLR4, TMOD1, TPM2, TRAF1, TRAF2, TSC1, TTF1, TXN, TYRP1, UGCG, VAV2, VCP, VLDLR, CORO2A, XPA, ZFP37, ZNF79, ZNF189, ZFAND5, NR4A3, BRD3, NUP214, LHX3, GFI1B, PIP5K1B, RECK, IKBKAP, CDC14B, TMEFF1, SSNA1, EDF1, CTNNAL1, MPDZ, FBP2, DPM2, FUBP3, CLIC3, PRPF4, KLF4, GTF3C5, GTF3C4, CER1, LHX2, PLAA, GRHPR, FAM189A2, TJP2, MED27, PTGES, ATP6V1G1, GABBR2, GDA, GNA14, RALGPS1, ADAMTSL2, RGP1, TRIM14, MELK, RUSC2, PPP1R26, SEC16A, ZBTB5, PUM3, TNFSF15, PTBP3, GNE, SH2D3C, RCL1, TOPORS, RABEPK, SIGMAR1, LAMC3, TUBB4B, UBAC1, OLFM1, ZER1, CREB3, UNC13B, SEMA4D, ANP32B, AGPAT2, SPTLC1, POMT1, SMC2, DMRT2, RRAGA, ZBTB6, NEK6, SDCCAG3, NOXA1, CCL27, USP20, ACTL7B, ACTL7A, GADD45G, SPIN1, SEC61B, SLC27A4, SLC35D2, CNTRL, WDR5, SPACA9, ADAMTS13, CACFD1, PSIP1, INSL6, SLC2A6, PTENP1, AKAP2, RPL35, MAN1B1, DCTN3, FRMPD1, DOLK, ZNF510, HABP4, PTGR1, TRIM32, FNBP1, SETX, ERP44, KDM4C, ZBTB43, SMC5, KANK1, FAM120A, PMPCA, VPS13A, ASTN2, AGTPBP1, BICD2, FKBP15, PHF24, KIAA0368, EXOSC2, NCS1, TDRD7, SLC44A1, ANGPTL2, NUP188, CDK20, DDX58, RABGAP1, TMEM2, TMEM245, FRRS1L, SLC24A2, CIZ1, DNAJB5, DCAF12, WHRN, NELFB, NIPSNAP3A, NSMF, GPSM1, GAPVD1, PHF19, ZNF658, SPATA31A7, FBXW2, SPAG8, OR1J4, OR2K2, FBXO10, GBGT1, LHX6, OSTF1, OR1L3, OR1L1, OR1J2, RANBP6, TRUB2, DNAI1, ST6GALNAC4, INVS, NDOR1, SIT1, SPINK4, TOR1B, TOR2A, NTMT1, PHPT1, CD274, ANAPC2, PKN3, DPP7, PSAT1, UBQLN1, SLC2A8, OBP2B, OBP2A, ST6GALNAC6, STOML2, DEC1, PCA3, AK3, EXOSC3, ABHD17B, MRPS2, COQ4, CERCAM, EGFL7, UBAP1, GOLM1, PRRX2, SPOUT1, CHMP5, TRMO, RAB14, TMEM8B, C9orf78, SHC3, POLE3, NANS, FBXW5, MRPL50, RC3H2, EPB41L4B, EQTN, TBC1D13, NUTM2F, DIRAS2, BNC2, HAUS6, ASPN, BSPRY, APTX, TOR4A, CNTLN, TEX10, FOCAD, UBE2R2, EXD3, FAM206A, NMRK1, STX17, NOL8, SPATA6L, C9orf40, TMEM38B, SMU1, RFK, NIPSNAP3B, STRBP, TBC1D2, HEMGN, KIF27, CDC37L1, DENND4C, RABL6, CDK5RAP2, UBAP2, PLGRKT, CBWD1, KLHL9, BARX1, RNF20, LRRC8A, INPP5E, NPDC1, OR2S2, BARHL1, SH3GLB2, REXO4, DOLPP1, KIAA1161, KCNT1, RIC1, ZBTB26, GBA2, DENND1A, GPR107, SLC46A2, INIP, ZNF462, DMRT3, PRDM12, NAA35, DMRTA1, SLC28A3, CARD9, SUSD1, POLR1E, IPPK, DDX31, FAM129B, LRRC19, MRPL41, NOL6, WNK2, SECISBP2, C9orf16, MAPKAP1, DCAF10, ZCCHC6, GALNT12, EHMT1, MOB3B, CAAP1, CNTNAP3, ERMP1, SVEP1, RMI1, TRPM3, PTGES2, IFT74, FAM214B, GKAP1, PDCD1LG2, AKNA, URM1, ISCA1, DOCK8, ARPC5L, HDHD3, AIF1L, UCK1, ZNF484, FSD1L, CEP78, ZCCHC7, ANKRD20A1, GARNL3, HSDL2, C9orf64, CARD19, TMEM246, NTNG2, MFSD14B, HINT2, C9orf24, PIGO, PRRC2B, PLPP7, ZDHHC12, MIGA2, ARHGEF39, C9orf3, FIBCD1, CCDC183, SNHG7, TMEM141, COL27A1, ALG2, FGD3, MVB12B, TPD52L3, WDR34, SAPCD2, C9orf69, LRSAM1, IL33, TMEM261, MSANTD3, UAP1L1, SLC25A51, MRRF, RBM18, ARRDC1, DPH7, ADAMTSL1, TMEM203, KIF12, PALM2, SLC25A25, WDR31, ZNF618, UHRF2, FAM122A, ZMYND19, GRIN3A, TMC1, RNF183, NACC2, C9orf116, CARNMT1, C9orf57, C9orf85, C9orf135, LCN8, FAM69B, PTRH1, PIP5KL1, TAF1L, PTPDC1, PRSS47, ARID3C, RPP25L, C9orf131, OR13C5, OR13C8, OR13C3, OR13C4, OR13F1, OR1L8, OR1N2, OR1N1, ASB6, TRPM6, SLC34A3, RNF38, GLIPR2, DAB2IP, CAMSAP1, C9orf62, C9orf66, LINGO2, NXNL2, C9orf163, MAMDC4, LCN6, AK8, OR1Q1, TTLL11, RASEF, TTC39B, TRMT10B, TTC16, FAM120AOS, SAXO1, FREM1, KIAA2026, ZNF483, C9orf84, KIAA1958, TSTD2, ZNF782, PRUNE2, STKLD1, KCNV2, OLFML2A, TMEM252, QSOX2, GLIS3, ZNF883, ZNF169, AAED1, ZNF367, TMEM268, C9orf72, CCDC171, NAIF1, FAM219A, CCDC107, LINC00537, ANKS6, SUSD3, CBWD5, CDC26, ANKRD18A, PHYHD1, MORN5, OR1L4, TXNDC8, HMCN2, MAMDC2, FRMD3, C9orf43, FAM205A, CRB2, SCAI, CFAP157, C9orf47, SPATA31E1, LCN12, C9orf142, TPRN, TUSC1, FAM78A, LURAP1L, OR13C9, OR13D1, FOXD4L3, IFNE, ZDHHC21, ACER2, ADGRD2, QRFP, OR1J1, OR1B1, KIF24, IGFBPL1, MURC, FOXD4L4, GLT6D1, ENHO, PTAR1, ERCC6L2, SWI5, C9orf50, PNPLA7, CYSRT1, ENTPD8, SPATA31A6, SPATA31D4, SPATA31D3, SPATA31D1, C9orf153, IER5L, CFAP77, LCN15, C9orf172, LRRC26, TMEM8C, FAM221B, OR13J1, OR13C2, OR1L6, OR5C1, OR1K1, LCN9, FAM102A, HACD4, TMEM215, TOMM5, C9orf170, CENPP, C9orf152, SNX30, TTLL11-IT1, WDR38, LCNL1, C9orf139, FAM166A, SOHLH1, PLPP6, ZBTB34, MIRLET7A1, MIRLET7D, MIRLET7F1, MIR101-2, MIR126, MIR181A2, MIR181B2, MIR199B, MIR204, MIR23B, MIR24-1, MIR27B, MIR31, MIR32, MIR7-1, C9orf106, IDNK, LCN10, ANKRD20A3, ANKRD20A2, SPATA31C1, NUTM2G, ANKRD18B, STPG3, NRARP, FOXB2, CBWD3, C9orf129, PALM2-AKAP2, PAPPA-AS1, DNAJC25, DNAJC25-GNG10, NRON, FAM163B, RNF224, CBWD6, SPATA31C2, HRCT1, SPATA31A1, FOXD4L6, FOXD4L5, MSMP, FAM27D1, RNF208, SPATA31A3, SPATA31A5, CBWD7, DNLZ, CNTNAP3B, ANKRD20A4, FAM166B, CDKN2B-AS1, IZUMO3, FAM157B, RNU6ATAC, MIR181A2HG, MIR2861, CCDC180, TMEM210, DAPK1-IT1, MSANTD3-TMEFF1, BANCR, C9orf41-AS1
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr9:139218428-140909058
GRCh38:
Chr9:136323974-138014606
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
98.
GRCh37:
Chr9:204193-141073897
GRCh38:
Chr9:193412-138179445
ABCA1, ABCA2, ABL1, ABO, ACO1, PLIN2, AK1, ALAD, ALDH1A1, ALDH1B1, ALDOB, AMBP, ANXA1, NUDT2, APBA1, AQP3, AQP7, ASS1, AUH, BAAT, BAG1, KLF9, C5, C8G, CA9, CACNA1B, CCIN, KYAT1, TNFSF8, ENTPD2, CD72, CDK9, CDKN2A, CDKN2B, CEL, CKS2, CLTA, CNTFR, COL5A1, COL15A1, SLC31A1, SLC31A2, CRAT, CTSL, CTSV, CYLC2, DAPK1, BRINP1, DBH, SARDH, DNM1, DMRT1, ECM2, TOR1A, LPAR1, S1PR3, MEGF9, ELAVL2, ENDOG, ENG, STOM, FANCC, FANCG, FBP1, FKTN, FCN1, FCN2, FOXE1, MLANA, FPGS, FXN, NR5A1, FUT7, GALT, GAS1, NR6A1, GCNT1, GGTA1P, B4GALT1, GLDC, GLE1, GNAQ, GNG10, GOLGA1, GOLGA2, GPR21, RAPGEF1, GRIN1, GSN, HNRNPK, HSD17B3, DNAJA1, HSPA5, TNC, IARS, IFNA1, IFNA2, IFNA4, IFNA5, IFNA6, IFNA7, IFNA8, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA21, IFNB1, IFNW1, IL11RA, INSL4, JAK2, LCN1, LCN2, LMX1B, MLLT3, MTAP, MUSK, NCBP1, NDUFA8, NDUFB6, NFIB, NFIL3, NFX1, NINJ1, NOTCH1, NPR2, NTRK2, ROR2, ODF2, OMD, OGN, ORM1, ORM2, PAEP, PAPPA, PAX5, PDCL, PBX3, PCSK5, PGM5, PHF2, PTPA, PPP3R2, PPP6C, PRKACG, PRSS3, PSMB7, PSMD5, PTCH1, PTGDS, PTGS1, PTPN3, PTPRD, RAD23B, RALGDS, RFX3, RGS3, RLN1, RLN2, RMRP, RORB, RPL7A, RPL12, RPS6, RXRA, CCL19, CCL21, SET, SH3GL2, SHB, SLC1A1, SMARCA2, SNAPC3, SNAPC4, SPTAN1, STXBP1, SURF1, SURF2, SURF4, MED22, SURF6, SYK, TAL2, TEK, TESK1, TGFBR1, TLE1, TLE4, TLN1, TLR4, TMOD1, TPM2, TRAF1, TRAF2, TSC1, TTF1, TXN, TYRP1, UGCG, VAV2, VCP, VLDLR, CORO2A, XPA, ZFP37, ZNF79, ZNF189, ZFAND5, NR4A3, BRD3, NUP214, LHX3, GFI1B, PIP5K1B, RECK, IKBKAP, CDC14B, TMEFF1, SSNA1, EDF1, CTNNAL1, MPDZ, FBP2, DPM2, FUBP3, CLIC3, PRPF4, KLF4, GTF3C5, GTF3C4, CER1, LHX2, PLAA, GRHPR, FAM189A2, TJP2, MED27, PTGES, ATP6V1G1, GABBR2, GDA, GNA14, RALGPS1, ADAMTSL2, RGP1, TRIM14, MELK, RUSC2, PPP1R26, SEC16A, ZBTB5, PUM3, TNFSF15, PTBP3, GNE, SH2D3C, RCL1, TOPORS, RABEPK, SIGMAR1, LAMC3, TUBB4B, UBAC1, OLFM1, ZER1, CREB3, UNC13B, SEMA4D, ANP32B, AGPAT2, SPTLC1, POMT1, SMC2, DMRT2, RRAGA, ZBTB6, NEK6, SDCCAG3, NOXA1, CCL27, USP20, ACTL7B, ACTL7A, GADD45G, SPIN1, SEC61B, SLC27A4, SLC35D2, CNTRL, WDR5, SPACA9, ADAMTS13, CACFD1, PSIP1, INSL6, SLC2A6, PTENP1, AKAP2, RPL35, MAN1B1, DCTN3, FRMPD1, DOLK, ZNF510, HABP4, PTGR1, TRIM32, FNBP1, SETX, ERP44, KDM4C, ZBTB43, SMC5, KANK1, FAM120A, PMPCA, VPS13A, ASTN2, AGTPBP1, BICD2, FKBP15, PHF24, KIAA0368, EXOSC2, NCS1, TDRD7, SLC44A1, ANGPTL2, NUP188, CDK20, DDX58, RABGAP1, TMEM2, TMEM245, FRRS1L, SLC24A2, CIZ1, DNAJB5, DCAF12, WHRN, NELFB, NIPSNAP3A, NSMF, GPSM1, DKFZP434A062, GAPVD1, PHF19, ZNF658, SPATA31A7, FBXW2, SPAG8, OR1J4, OR2K2, FBXO10, GBGT1, LHX6, OSTF1, OR1L3, OR1L1, OR1J2, SNORA65, SNORD62A, SNORD36C, SNORD36B, SNORD36A, SNORD24, RANBP6, TRUB2, DNAI1, ST6GALNAC4, INVS, NDOR1, SIT1, SPINK4, TOR1B, TOR2A, NTMT1, PHPT1, CD274, ANAPC2, PKN3, DPP7, PSAT1, UBQLN1, SLC2A8, OBP2B, OBP2A, ST6GALNAC6, STOML2, DEC1, PCA3, AK3, EXOSC3, ABHD17B, MRPS2, COQ4, LOC51145, CERCAM, EGFL7, CDKN2A-AS1, UBAP1, GOLM1, PRRX2, SPOUT1, CHMP5, TRMO, RAB14, TMEM8B, C9orf78, SHC3, POLE3, NANS, FBXW5, MRPL50, RC3H2, EPB41L4B, EQTN, TBC1D13, NUTM2F, DIRAS2, BNC2, HAUS6, ASPN, BSPRY, APTX, TOR4A, CNTLN, TEX10, PLPPR1, FOCAD, UBE2R2, EXD3, FAM206A, NMRK1, STX17, NOL8, SPATA6L, C9orf40, TMEM38B, SMU1, RFK, NIPSNAP3B, STRBP, TBC1D2, HEMGN, KIF27, CDC37L1, DENND4C, RABL6, CDK5RAP2, UBAP2, PLGRKT, KLHL9, BARX1, RNF20, LRRC8A, INPP5E, NPDC1, OR2S2, BARHL1, IFNK, SH3GLB2, GSN-AS1, REXO4, DOLPP1, KIAA1161, KCNT1, RIC1, LOC100499484-C9ORF174, ZBTB26, GBA2, DENND1A, GPR107, SLC46A2, LINC00474, INIP, ZNF462, DMRT3, PRDM12, NAA35, DMRTA1, SLC28A3, CARD9, SUSD1, POLR1E, IPPK, DDX31, FAM129B, LRRC19, MRPL41, NOL6, WNK2, SECISBP2, C9orf16, MAPKAP1, DCAF10, ZCCHC6, GALNT12, EHMT1, MOB3B, CAAP1, CNTNAP3, ERMP1, SVEP1, RMI1, TRPM3, PTGES2, IFT74, FAM214B, GKAP1, PDCD1LG2, AKNA, MIR600HG, URM1, ISCA1, DOCK8, ARPC5L, HDHD3, AIF1L, UCK1, ZNF484, FSD1L, CEP78, ZCCHC7, ANKRD20A1, GARNL3, HSDL2, C9orf64, CARD19, TMEM246, NTNG2, MFSD14B, HINT2, C9orf24, PIGO, PRRC2B, PLPP7, GLIS3-AS1, ZDHHC12, MIGA2, ARHGEF39, C9orf3, FIBCD1, CCDC183, SNHG7, TMEM141, ARRDC1-AS1, COL27A1, ALG2, FGD3, MVB12B, TPD52L3, WDR34, SAPCD2, C9orf69, LRSAM1, IL33, TMEM261, MSANTD3, UAP1L1, SLC25A51, MRRF, RBM18, ARRDC1, DPH7, ADAMTSL1, LINC00950, TMEM203, KIF12, PALM2, SLC25A25, WDR31, ZNF618, UHRF2, FAM122A, ZMYND19, GRIN3A, TMC1, RNF183, NACC2, C9orf116, CARNMT1, C9orf57, C9orf85, C9orf135, LCN8, FAM69B, PTRH1, PIP5KL1, TAF1L, PTPDC1, PRSS47, ARID3C, RPP25L, C9orf131, OR13C5, OR13C8, OR13C3, OR13C4, OR13F1, OR1L8, OR1N2, OR1N1, DBH-AS1, ASB6, TRPM6, SLC34A3, RNF38, GLIPR2, DAB2IP, CAMSAP1, C9orf62, C9orf66, LINC00032, LINGO2, NXNL2, C9orf163, MAMDC4, LCN6, AK8, OR1Q1, TTLL11, RASEF, TTC39B, FAM201A, TRMT10B, TTC16, MIRLET7DHG, FAM120AOS, SAXO1, LINC00475, FREM1, KIAA2026, LINC00961, ZNF483, C9orf84, KIAA1958, TSTD2, ZNF782, LOC158434, LOC158435, PRUNE2, STKLD1, KCNV2, OLFML2A, TMEM252, QSOX2, GLIS3, ZNF883, ZNF169, AAED1, ZNF367, TMEM268, C9orf72, CCDC171, NAIF1, FAM219A, CCDC107, LINC00537, ANKS6, SUSD3, CBWD5, CDC26, PSMD5-AS1, ANKRD18A, PHYHD1, MORN5, OR1L4, TXNDC8, HMCN2, MAMDC2, FRMD3, C9orf43, FAM205A, LINC00094, CRB2, SCAI, CFAP157, C9orf47, SPATA31E1, LOC286238, LCN12, C9orf142, TPRN, LOC286297, TUSC1, FAM225A, FAM78A, LURAP1L, LOC286359, OR13C9, OR13D1, LOC286367, MIR4290HG, FOXD4L3, IFNE, ZDHHC21, ACER2, LOC340512, LINC01501, ADGRD2, QRFP, OR1J1, OR1B1, KIF24, IGFBPL1, MURC, FOXD4L4, GLT6D1, ENHO, PTAR1, ERCC6L2, SWI5, C9orf50, PNPLA7, CYSRT1, ENTPD8, SPATA31A6, GLIDR, SPATA31D4, SPATA31D3, SPATA31D1, C9orf153, PTGES2-AS1, IER5L, CFAP77, LCN15, C9orf172, LRRC26, TMEM8C, FAM221B, OR13J1, OR13C2, OR1L6, OR5C1, OR1K1, LCN9, FAM102A, CCDC187, VLDLR-AS1, LINC01235, HACD4, LINC01242, TMEM215, TOMM5, FAM74A1, FAM74A4, C9orf170, CENPP, C9orf152, SNX30, TTLL11-IT1, WDR38, LOC401554, LOC401557, LINC01451, LCNL1, C9orf139, FAM166A, SOHLH1, PLPP6, LOC403323, ZBTB34, SPATA31B1P, MIRLET7A1, MIRLET7D, MIRLET7F1, MIR101-2, MIR126, MIR147A, MIR181A2, MIR181B2, MIR199B, MIR204, MIR219A2, MIR23B, MIR24-1, MIR27B, MIR31, MIR32, MIR7-1, COL5A1-AS1, C9orf106, LINC00587, IDNK, LCN10, CNTFR-AS1, LOC440173, LOC440896, LINC01239, ANKRD20A3, ANKRD20A2, SPATA31C1, NUTM2G, ANKRD18B, STX17-AS1, STPG3, NRARP, FOXB2, CBWD3, C9orf129, PALM2-AKAP2, PAPPA-AS1, C9orf135-AS1, DNAJC25, DNAJC25-GNG10, MIR31HG, LOC554249, PGM5-AS1, MIR491, MIR455, NRON, FAM163B, EHMT1-IT1, RNF224, LINC01189, CBWD6, SPATA31C2, HRCT1, FAM220BP, SPATA31A1, LRRC37A5P, FAM74A6, FOXD4L6, FOXD4L5, SCARNA8, SNORA17A, SNORA17B, SNORD62B, MSMP, SNORD90, MIR600, MIR601, MIR602, FAM27D1, RNF208, SPATA31A3, SPATA31A5, CBWD7, DNLZ, FAM74A3, CNTNAP3B, LOC728673, ANKRD20A4, LOC730098, FAM166B, TRH-GTG1-6, CDKN2B-AS1, SNORD121A, LINC00583, SNORA84, SNORA70C, MIR876, MIR873, LOC100128361, FAM225B, ASTN2-AS1, LOC100128593, LINC00476, LOC100129034, UNQ6494, TOPORS-AS1, LOC100129316, LINC00484, C9orf92, IZUMO3, STPG3-AS1, FAM205C, LOC100130548, LINC01502, CCDC183-AS1, FAM27E3, LOC100132077, LOC100132249, FAM27C, FAM95B1, LOC100133077, FAM27B, C9orf147, RNU6ATAC, LINC00092, TRR-TCG6-1, TRR-TCT3-1, LOC100272217, VPS13A-AS1, SLC25A25-AS1, FAM27E2, FAM95C, LOC100289279, MAN1B1-AS1, MIR1299, MIR1302-8, MIR2278, PIRC43, MIR181A2HG, MIR3074, MIR4292, MIR3152, MIR3154, MIR2861, MIR4291, MIR3153, MIR4290, MIR4289, CCDC180, MIR3621, MIR3910-1, MIR3689A, MIR3911, MIR3927, MIR3910-2, MIR3689B, MIR3651, LOC100505478, LOC100505588, TMEM210, LOC100506100, LINC01503, LINC00963, LOC100506422, PPP1R26-AS1, GAS1RR, DAPK1-IT1, MAMDC2-AS1, SMC5-AS1, LOC100507346, LINC01504, MSANTD3-TMEFF1, MIR4668, MIR3689D1, MIR4477A, MIR4477B, MIR3689F, MIR4667, MIR4473, MIR4669, MIR4673, MIR3960, MIR4540, MIR4665, MIR4475, MIR4674, MIR4478, MIR3689C, MIR219B, MIR3689D2, MIR4670, MIR4672, MIR4474, MIR4476, MIR3689E, MIR4479, MIR548AW, MIR548AU, RNU6-14P, BANCR, NAMA, FAM74A7, LINC01505, PTENP1-AS, SNORD121B, LOC101448202, DNAJB5-AS1, LOC101926948, LINC01506, LOC101927069, LINC01474, LOC101927358, C9orf41-AS1, GNA14-AS1, LOC101927450, LINC01507, LOC101927502, LOC101927575, LOC101927623, LOC101927827, LOC101927847, LINC01508, LOC101927954, BARX1-AS1, PCAT7, PTCSC2, LOC101928381, LOC101928438, TMEM246-AS1, NALT1, LINC01492, LOC101928523, LOC101928525, SMC2-AS1, HSPC324, PRR31, LINC01509, LOC101928748, LOC101928775, LOC101928786, LOC101928797, LOC101929116, LINC01231, RFX3-AS1, LOC101929331, CDC37L1-AS1, PTPRD-AS1, PTPRD-AS2, PRRX2-AS1, LURAP1L-AS1, FOCAD-AS1, LOC101929563, LINC01241, IFT74-AS1, LINC01243, B4GALT1-AS1, UBE2R2-AS1, LINC01251, LOC101929748, MIR6722, MIR6851, MIR6852, MIR6854, MIR6856, MIR6877, MIR7150, MIR7702, MIR8081, MIR6853, MIR7114, MIR6081, MIR6855, LOC102723566, LOC102723709, LOC102723971, LOC102724156, LOC102724238, LINC01230, LINC01410, RORB-AS1, LOC103908605, LOC105375972, LINC01627, LOC105376064, LOC105376114, LOC105376194, TTLL11-IT1, LOC105376271, LOC105376306, LOC105376331, LOC105379252, LOC105379450, LOC105379807, XLOC_007697, LINC01613, SNORD137, SNORD141A, LOC107987013
See casesPathogenic
(Aug 12, 2011)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr9:203862-141020389
GRCh38:
Chr9:203862-138125937
ABCA1, ABCA2, ABL1, ABO, ACO1, PLIN2, AK1, ALAD, ALDH1A1, ALDH1B1, ALDOB, AMBP, ANXA1, NUDT2, APBA1, AQP3, AQP7, ASS1, AUH, BAAT, BAG1, KLF9, C5, C8G, CA9, CACNA1B, CCIN, KYAT1, TNFSF8, ENTPD2, CD72, CDK9, CDKN2A, CDKN2B, CEL, CKS2, CLTA, CNTFR, COL5A1, COL15A1, SLC31A1, SLC31A2, CRAT, CTSL, CTSV, CYLC2, DAPK1, BRINP1, DBH, SARDH, DNM1, DMRT1, ECM2, TOR1A, LPAR1, S1PR3, MEGF9, ELAVL2, ENDOG, ENG, STOM, FANCC, FANCG, FBP1, FKTN, FCN1, FCN2, FOXE1, MLANA, FPGS, FXN, NR5A1, FUT7, GALT, GAS1, NR6A1, GCNT1, GGTA1P, B4GALT1, GLDC, GLE1, GNAQ, GNG10, GOLGA1, GOLGA2, GPR21, RAPGEF1, GRIN1, GSN, HNRNPK, HSD17B3, DNAJA1, HSPA5, TNC, IARS, IFNA1, IFNA2, IFNA4, IFNA5, IFNA6, IFNA7, IFNA8, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA21, IFNB1, IFNW1, IL11RA, INSL4, JAK2, LCN1, LCN2, LMX1B, MLLT3, MTAP, MUSK, NCBP1, NDUFA8, NDUFB6, NFIB, NFIL3, NFX1, NINJ1, NOTCH1, NPR2, NTRK2, ROR2, ODF2, OMD, OGN, ORM1, ORM2, PAEP, PAPPA, PAX5, PDCL, PBX3, PCSK5, PGM5, PHF2, PTPA, PPP3R2, PPP6C, PRKACG, PRSS3, PSMB7, PSMD5, PTCH1, PTGDS, PTGS1, PTPN3, PTPRD, RAD23B, RALGDS, RFX3, RGS3, RLN1, RLN2, RMRP, RORB, RPL7A, RPL12, RPS6, RXRA, CCL19, CCL21, SET, SH3GL2, SHB, SLC1A1, SMARCA2, SNAPC3, SNAPC4, SPTAN1, STXBP1, SURF1, SURF2, SURF4, MED22, SURF6, SYK, TAL2, TEK, TESK1, TGFBR1, TLE1, TLE4, TLN1, TLR4, TMOD1, TPM2, TRAF1, TRAF2, TSC1, TTF1, TXN, TYRP1, UGCG, VAV2, VCP, VLDLR, CORO2A, XPA, ZFP37, ZNF79, ZNF189, ZFAND5, NR4A3, BRD3, NUP214, LHX3, GFI1B, PIP5K1B, RECK, IKBKAP, CDC14B, TMEFF1, SSNA1, EDF1, CTNNAL1, MPDZ, FBP2, DPM2, FUBP3, CLIC3, PRPF4, KLF4, GTF3C5, GTF3C4, CER1, LHX2, PLAA, GRHPR, FAM189A2, TJP2, MED27, PTGES, ATP6V1G1, GABBR2, GDA, GNA14, RALGPS1, ADAMTSL2, RGP1, TRIM14, MELK, RUSC2, PPP1R26, SEC16A, ZBTB5, PUM3, TNFSF15, PTBP3, GNE, SH2D3C, RCL1, TOPORS, RABEPK, SIGMAR1, LAMC3, TUBB4B, UBAC1, OLFM1, ZER1, CREB3, UNC13B, SEMA4D, ANP32B, AGPAT2, SPTLC1, POMT1, SMC2, DMRT2, RRAGA, ZBTB6, NEK6, SDCCAG3, NOXA1, CCL27, USP20, ACTL7B, ACTL7A, GADD45G, SPIN1, SEC61B, SLC27A4, SLC35D2, CNTRL, WDR5, SPACA9, ADAMTS13, CACFD1, PSIP1, INSL6, SLC2A6, PTENP1, AKAP2, RPL35, MAN1B1, DCTN3, FRMPD1, DOLK, ZNF510, HABP4, PTGR1, TRIM32, FNBP1, SETX, ERP44, KDM4C, ZBTB43, SMC5, KANK1, FAM120A, PMPCA, VPS13A, ASTN2, AGTPBP1, BICD2, FKBP15, PHF24, KIAA0368, EXOSC2, NCS1, TDRD7, SLC44A1, ANGPTL2, NUP188, CDK20, DDX58, RABGAP1, TMEM2, TMEM245, FRRS1L, SLC24A2, CIZ1, DNAJB5, DCAF12, WHRN, NELFB, NIPSNAP3A, NSMF, GPSM1, DKFZP434A062, GAPVD1, PHF19, ZNF658, SPATA31A7, FBXW2, SPAG8, OR1J4, OR2K2, FBXO10, GBGT1, LHX6, OSTF1, OR1L3, OR1L1, OR1J2, SNORA65, SNORD62A, SNORD36C, SNORD36B, SNORD36A, SNORD24, RANBP6, TRUB2, DNAI1, ST6GALNAC4, INVS, NDOR1, SIT1, SPINK4, TOR1B, TOR2A, NTMT1, PHPT1, CD274, ANAPC2, PKN3, DPP7, PSAT1, UBQLN1, SLC2A8, OBP2B, OBP2A, ST6GALNAC6, STOML2, DEC1, PCA3, AK3, EXOSC3, ABHD17B, MRPS2, COQ4, LOC51145, CERCAM, EGFL7, CDKN2A-AS1, UBAP1, GOLM1, PRRX2, SPOUT1, CHMP5, TRMO, RAB14, TMEM8B, C9orf78, SHC3, POLE3, NANS, FBXW5, MRPL50, RC3H2, EPB41L4B, EQTN, TBC1D13, NUTM2F, DIRAS2, BNC2, HAUS6, ASPN, BSPRY, APTX, TOR4A, CNTLN, TEX10, PLPPR1, FOCAD, UBE2R2, EXD3, FAM206A, NMRK1, STX17, NOL8, SPATA6L, C9orf40, TMEM38B, SMU1, RFK, NIPSNAP3B, STRBP, TBC1D2, HEMGN, KIF27, CDC37L1, DENND4C, RABL6, CDK5RAP2, UBAP2, PLGRKT, KLHL9, BARX1, RNF20, LRRC8A, INPP5E, NPDC1, OR2S2, BARHL1, IFNK, SH3GLB2, GSN-AS1, REXO4, DOLPP1, KIAA1161, KCNT1, RIC1, LOC100499484-C9ORF174, ZBTB26, GBA2, DENND1A, GPR107, SLC46A2, LINC00474, INIP, ZNF462, DMRT3, PRDM12, NAA35, DMRTA1, SLC28A3, CARD9, SUSD1, POLR1E, IPPK, DDX31, FAM129B, LRRC19, MRPL41, NOL6, WNK2, SECISBP2, C9orf16, MAPKAP1, DCAF10, ZCCHC6, GALNT12, EHMT1, MOB3B, CAAP1, CNTNAP3, ERMP1, SVEP1, RMI1, TRPM3, PTGES2, IFT74, FAM214B, GKAP1, PDCD1LG2, AKNA, MIR600HG, URM1, ISCA1, DOCK8, ARPC5L, HDHD3, AIF1L, UCK1, ZNF484, FSD1L, CEP78, ZCCHC7, ANKRD20A1, GARNL3, HSDL2, C9orf64, CARD19, TMEM246, NTNG2, MFSD14B, HINT2, C9orf24, PIGO, PRRC2B, PLPP7, GLIS3-AS1, ZDHHC12, MIGA2, ARHGEF39, C9orf3, FIBCD1, CCDC183, SNHG7, TMEM141, ARRDC1-AS1, COL27A1, ALG2, FGD3, MVB12B, TPD52L3, WDR34, SAPCD2, C9orf69, LRSAM1, IL33, TMEM261, MSANTD3, UAP1L1, SLC25A51, MRRF, RBM18, ARRDC1, DPH7, ADAMTSL1, LINC00950, TMEM203, KIF12, PALM2, SLC25A25, WDR31, ZNF618, UHRF2, FAM122A, ZMYND19, GRIN3A, TMC1, RNF183, NACC2, C9orf116, CARNMT1, C9orf57, C9orf85, C9orf135, LCN8, FAM69B, PTRH1, PIP5KL1, TAF1L, PTPDC1, PRSS47, ARID3C, RPP25L, C9orf131, OR13C5, OR13C8, OR13C3, OR13C4, OR13F1, OR1L8, OR1N2, OR1N1, DBH-AS1, ASB6, TRPM6, SLC34A3, RNF38, GLIPR2, DAB2IP, CAMSAP1, C9orf62, C9orf66, LINC00032, LINGO2, NXNL2, C9orf163, MAMDC4, LCN6, AK8, OR1Q1, TTLL11, RASEF, TTC39B, FAM201A, TRMT10B, TTC16, MIRLET7DHG, FAM120AOS, SAXO1, LINC00475, FREM1, KIAA2026, LINC00961, ZNF483, C9orf84, KIAA1958, TSTD2, ZNF782, LOC158434, LOC158435, PRUNE2, STKLD1, KCNV2, OLFML2A, TMEM252, QSOX2, GLIS3, ZNF883, ZNF169, AAED1, ZNF367, TMEM268, C9orf72, CCDC171, NAIF1, FAM219A, CCDC107, LINC00537, ANKS6, SUSD3, CBWD5, CDC26, PSMD5-AS1, ANKRD18A, PHYHD1, MORN5, OR1L4, TXNDC8, HMCN2, MAMDC2, FRMD3, C9orf43, FAM205A, LINC00094, CRB2, SCAI, CFAP157, C9orf47, SPATA31E1, LOC286238, LCN12, C9orf142, TPRN, LOC286297, TUSC1, FAM225A, FAM78A, LURAP1L, LOC286359, OR13C9, OR13D1, LOC286367, MIR4290HG, FOXD4L3, IFNE, ZDHHC21, ACER2, LOC340512, LINC01501, ADGRD2, QRFP, OR1J1, OR1B1, KIF24, IGFBPL1, MURC, FOXD4L4, GLT6D1, ENHO, PTAR1, ERCC6L2, SWI5, C9orf50, PNPLA7, CYSRT1, ENTPD8, SPATA31A6, GLIDR, SPATA31D4, SPATA31D3, SPATA31D1, C9orf153, PTGES2-AS1, IER5L, CFAP77, LCN15, C9orf172, LRRC26, TMEM8C, FAM221B, OR13J1, OR13C2, OR1L6, OR5C1, OR1K1, LCN9, FAM102A, CCDC187, VLDLR-AS1, LINC01235, HACD4, LINC01242, TMEM215, TOMM5, FAM74A1, FAM74A4, C9orf170, CENPP, C9orf152, SNX30, TTLL11-IT1, WDR38, LOC401554, LOC401557, LINC01451, LCNL1, C9orf139, FAM166A, SOHLH1, PLPP6, LOC403323, ZBTB34, SPATA31B1P, MIRLET7A1, MIRLET7D, MIRLET7F1, MIR101-2, MIR126, MIR147A, MIR181A2, MIR181B2, MIR199B, MIR204, MIR219A2, MIR23B, MIR24-1, MIR27B, MIR31, MIR32, MIR7-1, COL5A1-AS1, C9orf106, LINC00587, IDNK, LCN10, CNTFR-AS1, LOC440173, LOC440896, LINC01239, ANKRD20A3, ANKRD20A2, SPATA31C1, NUTM2G, ANKRD18B, STX17-AS1, STPG3, NRARP, FOXB2, CBWD3, C9orf129, PALM2-AKAP2, PAPPA-AS1, C9orf135-AS1, DNAJC25, DNAJC25-GNG10, MIR31HG, LOC554249, PGM5-AS1, MIR491, MIR455, NRON, FAM163B, EHMT1-IT1, RNF224, LINC01189, CBWD6, SPATA31C2, HRCT1, FAM220BP, SPATA31A1, LRRC37A5P, FAM74A6, FOXD4L6, FOXD4L5, SCARNA8, SNORA17A, SNORA17B, SNORD62B, MSMP, SNORD90, MIR600, MIR601, MIR602, FAM27D1, RNF208, SPATA31A3, SPATA31A5, CBWD7, DNLZ, FAM74A3, CNTNAP3B, LOC728673, ANKRD20A4, LOC730098, FAM166B, TRH-GTG1-6, CDKN2B-AS1, SNORD121A, LINC00583, SNORA84, SNORA70C, MIR876, MIR873, LOC100128361, FAM225B, ASTN2-AS1, LOC100128593, LINC00476, LOC100129034, UNQ6494, TOPORS-AS1, LOC100129316, LINC00484, C9orf92, IZUMO3, STPG3-AS1, FAM205C, LOC100130548, LINC01502, CCDC183-AS1, FAM27E3, LOC100132077, LOC100132249, FAM27C, FAM95B1, LOC100133077, FAM27B, C9orf147, RNU6ATAC, LINC00092, TRR-TCG6-1, TRR-TCT3-1, LOC100272217, VPS13A-AS1, SLC25A25-AS1, FAM27E2, FAM95C, LOC100289279, MAN1B1-AS1, MIR1299, MIR1302-8, MIR2278, PIRC43, MIR181A2HG, MIR3074, MIR4292, MIR3152, MIR3154, MIR2861, MIR4291, MIR3153, MIR4290, MIR4289, CCDC180, MIR3621, MIR3910-1, MIR3689A, MIR3911, MIR3927, MIR3910-2, MIR3689B, MIR3651, LOC100505478, LOC100505588, TMEM210, LOC100506100, LINC01503, LINC00963, LOC100506422, PPP1R26-AS1, GAS1RR, DAPK1-IT1, MAMDC2-AS1, SMC5-AS1, LOC100507346, LINC01504, MSANTD3-TMEFF1, MIR4668, MIR3689D1, MIR4477A, MIR4477B, MIR3689F, MIR4667, MIR4473, MIR4669, MIR4673, MIR3960, MIR4540, MIR4665, MIR4475, MIR4674, MIR4478, MIR3689C, MIR219B, MIR3689D2, MIR4670, MIR4672, MIR4474, MIR4476, MIR3689E, MIR4479, MIR548AW, MIR548AU, RNU6-14P, BANCR, NAMA, FAM74A7, LINC01505, PTENP1-AS, SNORD121B, LOC101448202, DNAJB5-AS1, LOC101926948, LINC01506, LOC101927069, LINC01474, LOC101927358, C9orf41-AS1, GNA14-AS1, LOC101927450, LINC01507, LOC101927502, LOC101927575, LOC101927623, LOC101927827, LOC101927847, LINC01508, LOC101927954, BARX1-AS1, PCAT7, PTCSC2, LOC101928381, LOC101928438, TMEM246-AS1, NALT1, LINC01492, LOC101928523, LOC101928525, SMC2-AS1, HSPC324, PRR31, LINC01509, LOC101928748, LOC101928775, LOC101928786, LOC101928797, LOC101929116, LINC01231, RFX3-AS1, LOC101929331, CDC37L1-AS1, PTPRD-AS1, PTPRD-AS2, PRRX2-AS1, LURAP1L-AS1, FOCAD-AS1, LOC101929563, LINC01241, IFT74-AS1, LINC01243, B4GALT1-AS1, UBE2R2-AS1, LINC01251, LOC101929748, MIR6722, MIR6851, MIR6852, MIR6854, MIR6856, MIR6877, MIR7150, MIR7702, MIR8081, MIR6853, MIR7114, MIR6081, MIR6855, LOC102723566, LOC102723709, LOC102723971, LOC102724156, LOC102724238, LINC01230, LINC01410, RORB-AS1, LOC103908605, LOC105375972, LINC01627, LOC105376064, LOC105376114, LOC105376194, TTLL11-IT1, LOC105376271, LOC105376306, LOC105376331, LOC105379252, LOC105379450, LOC105379807, XLOC_007697, LINC01613, SNORD137, SNORD141A, LOC107987013
See casesPathogenicno assertion criteria provided
100.
GRCh37:
Chr9:138596626-141020389
GRCh38:
Chr9:135704780-138125937
See casesLikely pathogenic
(Mar 24, 2014)
no assertion criteria provided
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