U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 104

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:65508902-67473140
GRCh38:
Chr11:65741431-67705669
LOC130006205, LOC130006206, LOC130006207, LOC130006208, LOC130006209, LOC130006210, LOC130006211, LOC130006212, LOC130006213, LOC130006214, LOC130006215, LOC130006216, LOC130006217, LOC130006218, LOC130006219, LOC130006220, LOC130006221, LOC130006222, LOC130006223, LOC130006224, LOC130006225, LOC130006226, LOC130006227, LOC130006228, LOC130006229, LRFN4, MIR3163, MIR6752, MIR6860, MRPL11, MUS81, NDUFV1, NDUFV1-DT, NPAS4, NUDT8, OVOL1, OVOL1-AS1, PACS1, PC, PELI3, PITPNM1, POLD4, PPP1CA, PTPRCAP, RAB1B, RAD9A, RBM14, RBM14-RBM4, RBM4, RBM4B, RCE1, RHOD, RIN1, RPS6KB2, SART1, SF3B2, SLC29A2, SNORD13F, SNX32, SPTBN2, SSH3, SYT12, TBC1D10C, TBX10, TMEM134, TMEM151A, TOP6BL, TRS-GCT3-1, TSGA10IP, YIF1A, ZDHHC24, ACTN3, ACY3, AIP, ALDH3B2, ANKRD13D, AP5B1, B4GAT1, B4GAT1-DT, BANF1, BBS1, BRMS1, C11orf68, C11orf86, CABP2, CABP4, CARNS1, CATSPER1, CCDC85B, CCDC87, CCS, CD248, CDK2AP2, CFL1, CLCF1, CNIH2, CORO1B, CST6, CTSF, CTSW, DPP3, DPP3-DT, DRAP1, EFEMP2, EIF1AD, FIBP, FOSL1, FRA11A, GAL3ST3, GPR152, GRK2, GSTP1, KDM2A, KLC2, KLC2-AS1, KLC2-AS2, LOC100130987, LOC107984341, LOC111413017, LOC111718491, LOC112081411, LOC112081412, LOC113939926, LOC116216147, LOC116216148, LOC121832794, LOC124500672, LOC124500673, LOC124500674, LOC124500675, LOC124500676, LOC124500677, LOC124500678, LOC126861238, LOC126861239, LOC126861240, LOC126861241, LOC126861242, LOC129390293, LOC129390294, LOC129390295, LOC129390296, LOC130006063, LOC130006064, LOC130006065, LOC130006066, LOC130006067, LOC130006068, LOC130006069, LOC130006070, LOC130006071, LOC130006072, LOC130006073, LOC130006074, LOC130006075, LOC130006076, LOC130006077, LOC130006078, LOC130006079, LOC130006080, LOC130006081, LOC130006082, LOC130006083, LOC130006084, LOC130006085, LOC130006086, LOC130006087, LOC130006088, LOC130006089, LOC130006090, LOC130006091, LOC130006092, LOC130006093, LOC130006094, LOC130006095, LOC130006096, LOC130006097, LOC130006098, LOC130006099, LOC130006100, LOC130006101, LOC130006102, LOC130006103, LOC130006104, LOC130006105, LOC130006106, LOC130006107, LOC130006108, LOC130006109, LOC130006110, LOC130006111, LOC130006112, LOC130006113, LOC130006114, LOC130006115, LOC130006116, LOC130006117, LOC130006118, LOC130006119, LOC130006120, LOC130006121, LOC130006122, LOC130006123, LOC130006124, LOC130006125, LOC130006126, LOC130006127, LOC130006128, LOC130006129, LOC130006130, LOC130006131, LOC130006132, LOC130006133, LOC130006134, LOC130006135, LOC130006136, LOC130006137, LOC130006138, LOC130006139, LOC130006140, LOC130006141, LOC130006142, LOC130006143, LOC130006144, LOC130006145, LOC130006146, LOC130006147, LOC130006148, LOC130006149, LOC130006150, LOC130006151, LOC130006152, LOC130006153, LOC130006154, LOC130006155, LOC130006156, LOC130006157, LOC130006158, LOC130006159, LOC130006160, LOC130006161, LOC130006162, LOC130006163, LOC130006164, LOC130006165, LOC130006166, LOC130006167, LOC130006168, LOC130006169, LOC130006170, LOC130006171, LOC130006172, LOC130006173, LOC130006174, LOC130006175, LOC130006176, LOC130006177, LOC130006178, LOC130006179, LOC130006180, LOC130006181, LOC130006182, LOC130006183, LOC130006184, LOC130006185, LOC130006186, LOC130006187, LOC130006188, LOC130006189, LOC130006190, LOC130006191, LOC130006192, LOC130006193, LOC130006194, LOC130006195, LOC130006196, LOC130006197, LOC130006198, LOC130006199, LOC130006200, LOC130006201, LOC130006202, LOC130006203, LOC130006204
See casesPathogenic
(Oct 24, 2012)
no assertion criteria provided
2.
GRCh37:
Chr11:65633902-66115026
GRCh38:
Chr11:65866431-66347555
Cutis laxa, autosomal recessive, type 1BUncertain significance
(Dec 11, 2018)
criteria provided, single submitter
3.
GRCh37:
Chr11:65960973-67658241
GRCh38:
Chr11:66193502-67890770
RIN1, RPS6KB2, SLC29A2, SPTBN2, SSH3, SYT12, TBC1D10C, TBX10, TMEM134, TMEM151A, TOP6BL, TRS-GCT3-1, YIF1A, ZDHHC24, ACTN3, ACY3, AIP, ALDH3B2, ANKRD13D, B4GAT1, B4GAT1-DT, BBS1, BRMS1, C11orf86, CABP2, CABP4, CARNS1, CCDC87, CCS, CD248, CDK2AP2, CLCF1, CNIH2, CORO1B, CTSF, DPP3, DPP3-DT, FRA11A, GPR152, GRK2, GSTP1, KDM2A, KLC2, KLC2-AS1, KLC2-AS2, LINC02754, LOC100130987, LOC107984341, LOC111718491, LOC112081411, LOC112081412, LOC113939926, LOC124500675, LOC124500676, LOC124500677, LOC124500678, LOC126861238, LOC126861239, LOC126861240, LOC126861241, LOC126861242, LOC129390293, LOC129390294, LOC129390295, LOC129390296, LOC130006106, LOC130006107, LOC130006108, LOC130006109, LOC130006110, LOC130006111, LOC130006112, LOC130006113, LOC130006114, LOC130006115, LOC130006116, LOC130006117, LOC130006118, LOC130006119, LOC130006120, LOC130006121, LOC130006122, LOC130006123, LOC130006124, LOC130006125, LOC130006126, LOC130006127, LOC130006128, LOC130006129, LOC130006130, LOC130006131, LOC130006132, LOC130006133, LOC130006134, LOC130006135, LOC130006136, LOC130006137, LOC130006138, LOC130006139, LOC130006140, LOC130006141, LOC130006142, LOC130006143, LOC130006144, LOC130006145, LOC130006146, LOC130006147, LOC130006148, LOC130006149, LOC130006150, LOC130006151, LOC130006152, LOC130006153, LOC130006154, LOC130006155, LOC130006156, LOC130006157, LOC130006158, LOC130006159, LOC130006160, LOC130006161, LOC130006162, LOC130006163, LOC130006164, LOC130006165, LOC130006166, LOC130006167, LOC130006168, LOC130006169, LOC130006170, LOC130006171, LOC130006172, LOC130006173, LOC130006174, LOC130006175, LOC130006176, LOC130006177, LOC130006178, LOC130006179, LOC130006180, LOC130006181, LOC130006182, LOC130006183, LOC130006184, LOC130006185, LOC130006186, LOC130006187, LOC130006188, LOC130006189, LOC130006190, LOC130006191, LOC130006192, LOC130006193, LOC130006194, LOC130006195, LOC130006196, LOC130006197, LOC130006198, LOC130006199, LOC130006200, LOC130006201, LOC130006202, LOC130006203, LOC130006204, LOC130006205, LOC130006206, LOC130006207, LOC130006208, LOC130006209, LOC130006210, LOC130006211, LOC130006212, LOC130006213, LOC130006214, LOC130006215, LOC130006216, LOC130006217, LOC130006218, LOC130006219, LOC130006220, LOC130006221, LOC130006222, LOC130006223, LOC130006224, LOC130006225, LOC130006226, LOC130006227, LOC130006228, LOC130006229, LOC130006230, LRFN4, MIR3163, MIR6752, MIR6860, MRPL11, NDUFV1, NDUFV1-DT, NPAS4, NUDT8, PACS1, PC, PELI3, PITPNM1, POLD4, PPP1CA, PTPRCAP, RAB1B, RAD9A, RBM14, RBM14-RBM4, RBM4, RBM4B, RCE1, RHOD
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr11:66024557-66024773
GRCh38:
Chr11:66257086-66257302
KLC2SPOAN syndromePathogenic
(Jan 31, 2014)
no assertion criteria provided
5.
GRCh37:
Chr11:66024558-66024771
GRCh38:
Chr11:66257087-66257300
KLC2See casesPathogenic
(May 10, 2021)
criteria provided, single submitter
6.
GRCh37:
Chr11:66026073
GRCh38:
Chr11:66258602
KLC2M3TInborn genetic diseasesLikely benign
(Apr 18, 2023)
criteria provided, single submitter
7.
GRCh37:
Chr11:66026075
GRCh38:
Chr11:66258604
KLC2M4Lnot providedUncertain significance
(Jul 17, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr11:66026095
GRCh38:
Chr11:66258624
KLC2not providedLikely benign
(Apr 10, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr11:66026125
GRCh38:
Chr11:66258654
KLC2not providedLikely benign
(Nov 1, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr11:66026191
GRCh38:
Chr11:66258720
KLC2not providedBenign
(Oct 5, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr11:66026201
GRCh38:
Chr11:66258730
KLC2E46Qnot providedUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr11:66026261
GRCh38:
Chr11:66258790
KLC2E66KInborn genetic diseasesUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr11:66029212
GRCh38:
Chr11:66261741
KLC2, KLC2-AS1not providedUncertain significance
(Jan 1, 2023)
criteria provided, single submitter
14.
GRCh37:
Chr11:66029247
GRCh38:
Chr11:66261776
KLC2, KLC2-AS1V88AInborn genetic diseasesUncertain significance
(Oct 12, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr11:66029271
GRCh38:
Chr11:66261800
KLC2, KLC2-AS1R96Qnot providedUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr11:66029275
GRCh38:
Chr11:66261804
KLC2, KLC2-AS1not providedBenign
(Oct 5, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr11:66029314
GRCh38:
Chr11:66261843
KLC2, KLC2-AS1not providedLikely benign
(Jun 21, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr11:66029353
GRCh38:
Chr11:66261882
KLC2, KLC2-AS1S123RInborn genetic diseasesUncertain significance
(Jul 27, 2023)
criteria provided, single submitter
19.
GRCh37:
Chr11:66029362
GRCh38:
Chr11:66261891
KLC2, KLC2-AS1not providedLikely benign
(Jun 21, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr11:66029387
GRCh38:
Chr11:66261916
KLC2, KLC2-AS1Q135Enot providedUncertain significance
(May 19, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr11:66029415
GRCh38:
Chr11:66261944
KLC2, KLC2-AS1R144HInborn genetic diseasesUncertain significance
(May 23, 2023)
criteria provided, single submitter
22.
GRCh37:
Chr11:66029418
GRCh38:
Chr11:66261947
KLC2, KLC2-AS1K145Rnot providedUncertain significance
(Nov 5, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr11:66029588
GRCh38:
Chr11:66262117
KLC2, KLC2-AS1not providedBenign
(Jun 4, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr11:66029641
GRCh38:
Chr11:66262170
KLC2, KLC2-AS1not providedLikely benign
(Aug 21, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr11:66029645
GRCh38:
Chr11:66262174
KLC2, KLC2-AS1E171K, E94Knot providedLikely benign
(Aug 27, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr11:66030331
GRCh38:
Chr11:66262860
KLC2, KLC2-AS1not providedLikely benign
(Oct 18, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr11:66030344
GRCh38:
Chr11:66262873
KLC2, KLC2-AS1R120W, R197WInborn genetic diseasesUncertain significance
(Dec 15, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr11:66030380
GRCh38:
Chr11:66262909
KLC2, KLC2-AS1A209T, A132TInborn genetic diseasesUncertain significance
(Nov 8, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr11:66030401
GRCh38:
Chr11:66262930
KLC2, KLC2-AS1V216I, V139Inot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr11:66030447
GRCh38:
Chr11:66262976
KLC2, KLC2-AS1T154M, T231Mnot providedUncertain significance
(Aug 7, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr11:66030448
GRCh38:
Chr11:66262977
KLC2, KLC2-AS1not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
32.
GRCh37:
Chr11:66030453
GRCh38:
Chr11:66262982
KLC2, KLC2-AS1G233V, G156VInborn genetic diseases, not providedUncertain significance
(Apr 7, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr11:66030457
GRCh38:
Chr11:66262986
KLC2, KLC2-AS1not providedLikely benign
(Jul 1, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr11:66030458
GRCh38:
Chr11:66262987
KLC2, KLC2-AS1D158N, D235NInborn genetic diseasesUncertain significance
(Apr 7, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr11:66030477
GRCh38:
Chr11:66263006
KLC2, KLC2-AS1T241S, T164Snot providedUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr11:66031198
GRCh38:
Chr11:66263727
KLC2, KLC2-AS1L197V, L274Vnot providedUncertain significance
(May 22, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr11:66031334
GRCh38:
Chr11:66263863
KLC2, KLC2-AS1not providedLikely benign
(Jun 9, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr11:66031351
GRCh38:
Chr11:66263880
KLC2, KLC2-AS1not providedLikely benign
(Jul 6, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr11:66031351
GRCh38:
Chr11:66263880
KLC2, KLC2-AS1not providedBenign
(Jul 19, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr11:66031355
GRCh38:
Chr11:66263884
KLC2, KLC2-AS1Y215H, Y292Hnot providedUncertain significance
(Mar 20, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr11:66031402
GRCh38:
Chr11:66263931
KLC2, KLC2-AS1not providedBenign
(Sep 14, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr11:66031450
GRCh38:
Chr11:66263979
KLC2, KLC2-AS1SPOAN syndromeBenign
(Aug 19, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr11:66031564
GRCh38:
Chr11:66264093
KLC2, KLC2-AS1not providedLikely benign
(Dec 19, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr11:66031594
GRCh38:
Chr11:66264123
KLC2, KLC2-AS1not providedLikely benign
(Jul 14, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr11:66031614
GRCh38:
Chr11:66264143
KLC2, KLC2-AS1Y270C, Y347Cnot providedUncertain significance
(Aug 21, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr11:66031616
GRCh38:
Chr11:66264145
KLC2, KLC2-AS1R348W, R271WInborn genetic diseasesUncertain significance
(Mar 1, 2023)
criteria provided, single submitter
47.
GRCh37:
Chr11:66031640
GRCh38:
Chr11:66264169
KLC2, KLC2-AS1T356A, T279AInborn genetic diseasesUncertain significance
(Sep 6, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr11:66031643
GRCh38:
Chr11:66264172
KLC2, KLC2-AS1R280C, R357Cnot providedUncertain significance
(Mar 4, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr11:66031660
GRCh38:
Chr11:66264189
KLC2, KLC2-AS1not provided, SPOAN syndromeBenign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr11:66031665
GRCh38:
Chr11:66264194
KLC2, KLC2-AS1N287S, N364Snot providedUncertain significance
(Jul 11, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr11:66031667
GRCh38:
Chr11:66264196
KLC2, KLC2-AS1V288L, V365LInborn genetic diseasesUncertain significance
(Apr 12, 2023)
criteria provided, single submitter
52.
GRCh37:
Chr11:66031808
GRCh38:
Chr11:66264337
KLC2, KLC2-AS1not providedBenign
(Oct 27, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr11:66031854
GRCh38:
Chr11:66264383
KLC2, KLC2-AS1not providedLikely benign
(Oct 15, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr11:66031874
GRCh38:
Chr11:66264403
KLC2, KLC2-AS1I392T, I315Tnot providedUncertain significance
(Apr 1, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr11:66032530
GRCh38:
Chr11:66265059
KLC2, KLC2-AS1R341Q, R418Qnot provided, Inborn genetic diseasesUncertain significance
(Mar 9, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr11:66032649
GRCh38:
Chr11:66265178
KLC2, KLC2-AS1R426Q, R349Qnot providedBenign
(Mar 1, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr11:66032657
GRCh38:
Chr11:66265186
KLC2, KLC2-AS1A352T, A429Tnot providedUncertain significance
(Jun 13, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr11:66032674
GRCh38:
Chr11:66265203
KLC2, KLC2-AS1not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
59.
GRCh37:
Chr11:66032680
GRCh38:
Chr11:66265209
KLC2, KLC2-AS1not providedBenign/Likely benign
(Jul 1, 2023)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr11:66032712-66032713
GRCh38:
Chr11:66265241-66265242
KLC2, KLC2-AS1not providedBenign
(Nov 1, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr11:66032718
GRCh38:
Chr11:66265247
KLC2-AS1, KLC2not providedLikely benign
(Mar 8, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr11:66033153
GRCh38:
Chr11:66265682
KLC2, KLC2-AS1not providedLikely benign
(Oct 1, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr11:66033169
GRCh38:
Chr11:66265698
KLC2R460W, R383WInborn genetic diseasesUncertain significance
(Jun 22, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr11:66033192
GRCh38:
Chr11:66265721
KLC2not providedLikely benign
(Oct 1, 2023)
criteria provided, single submitter
65.
GRCh37:
Chr11:66033195
GRCh38:
Chr11:66265724
KLC2not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
66.
GRCh37:
Chr11:66033301
GRCh38:
Chr11:66265830
KLC2SPOAN syndromeBenign
(Aug 19, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr11:66033337
GRCh38:
Chr11:66265866
KLC2A409T, A486Tnot providedUncertain significance
(Nov 17, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr11:66033379
GRCh38:
Chr11:66265908
KLC2G423C, G500CInborn genetic diseasesUncertain significance
(Jan 23, 2023)
criteria provided, single submitter
69.
GRCh37:
Chr11:66033380
GRCh38:
Chr11:66265909
KLC2G423V, G500VInborn genetic diseasesUncertain significance
(Jan 23, 2023)
criteria provided, single submitter
70.
GRCh37:
Chr11:66033385
GRCh38:
Chr11:66265914
KLC2R425W, R502WInborn genetic diseasesUncertain significance
(Apr 7, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr11:66033392
GRCh38:
Chr11:66265921
KLC2D504V, D427Vnot providedUncertain significance
(Oct 18, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr11:66033394
GRCh38:
Chr11:66265923
KLC2R428C, R505Cnot providedLikely benign
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr11:66033397
GRCh38:
Chr11:66265926
KLC2R429S, R506SInborn genetic diseasesUncertain significance
(Oct 27, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr11:66033397
GRCh38:
Chr11:66265926
KLC2R429G, R506Gnot providedUncertain significance
(Sep 6, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr11:66033397
GRCh38:
Chr11:66265926
KLC2R506C, R429Cnot providedUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr11:66033398
GRCh38:
Chr11:66265927
KLC2R429H, R506HInborn genetic diseasesUncertain significance
(Jun 28, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr11:66033407
GRCh38:
Chr11:66265936
KLC2R432Q, R509QInborn genetic diseases, SPOAN syndromeUncertain significance
(Aug 6, 2021)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr11:66033413
GRCh38:
Chr11:66265942
KLC2M511T, M434TInborn genetic diseases, not providedUncertain significance
(Oct 28, 2021)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr11:66033423
GRCh38:
Chr11:66265952
KLC2not providedLikely benign
(Jul 16, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr11:66033427
GRCh38:
Chr11:66265956
KLC2G439R, G516RInborn genetic diseasesUncertain significance
(Nov 12, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr11:66033428
GRCh38:
Chr11:66265957
KLC2G439V, G516VInborn genetic diseasesUncertain significance
(Aug 17, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr11:66033430
GRCh38:
Chr11:66265959
KLC2P440S, P517Snot providedBenign
(Oct 30, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr11:66033433
GRCh38:
Chr11:66265962
KLC2R518G, R441GInborn genetic diseasesUncertain significance
(Jun 29, 2023)
criteria provided, single submitter
84.
GRCh37:
Chr11:66033451
GRCh38:
Chr11:66265980
KLC2E447K, E524KInborn genetic diseasesUncertain significance
(Jun 6, 2023)
criteria provided, single submitter
85.
GRCh37:
Chr11:66033457
GRCh38:
Chr11:66265986
KLC2V526M, V449MInborn genetic diseasesUncertain significance
(Aug 2, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr11:66033622
GRCh38:
Chr11:66266151
KLC2R554K, R477Knot providedUncertain significance
(Apr 1, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr11:66033623
GRCh38:
Chr11:66266152
KLC2not providedLikely benign
(Aug 4, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr11:66033699
GRCh38:
Chr11:66266228
KLC2not providedLikely benign
(Sep 6, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr11:66033967
GRCh38:
Chr11:66266496
KLC2not providedUncertain significance
(Oct 24, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr11:66034371
GRCh38:
Chr11:66266900
KLC2R528G, R605Gnot providedUncertain significance
(Jun 9, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr11:64973914-70052579
Aicardi-Goutieres syndrome 3, FADD-related immunodeficiencyUncertain significance
(Aug 21, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr11:32799481-134938470
GRIA4, GRIK4, GRK2, GRM5, GSTP1, GUCY1A2, H2AX, HARBI1, HEPACAM, HEPHL1, HEPN1, HIKESHI, HINFP, HIPK3, HMBS, HNRNPUL2, HOATZ, HSD17B12, HSPA8, HSPB2, HTR3A, HTR3B, HYLS1, HYOU1, IFT46, IFTAP, IGHMBP2, IGSF9B, IL10RA, IL18, IL18BP, INCENP, INPPL1, INTS4, INTS5, IZUMO1R, JAM3, JAML, JHY, JRKL, KAT5, KBTBD3, KBTBD4, KCNE3, KCNJ1, KCNJ5, KCNJ5-AS1, KCNK4, KCNK7, KCTD14, KCTD21, KDM2A, KDM4D, KDM4E, KIAA1549L, KIRREL3, KLC2, KLHL35, KMT2A, KMT5B, KRTAP5-10, KRTAP5-11, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LARGE2, LAYN, LBHD1, LDLRAD3, LGALS12, LINC00294, LINC02714, LINC02743, LINC02873, LIPT2, LMO2, LOC100128088, LOC100132686, LOC101929473, LPXN, LRFN4, LRP4, LRP5, LRRC10B, LRRC32, LRRC4C, LRRC55, LRRN4CL, LRTOMT, LTBP3, LTO1, MACROD1, MADD, MADD-AS1, MAJIN, MALAT1, MAML2, MAP3K11, MAP4K2, MAP6, MAPK8IP1, MARK2, MCAM, MDK, ME3, MED17, MED19, MEN1, MFRP, MIR100, MIR125B1, MIR130A, MIR139, MIR192, MIR194-2, MIR326, MIR34B, MIR34BHG, MIR34C, MIRLET7A2, MMP1, MMP10, MMP12, MMP13, MMP20, MMP27, MMP3, MMP7, MMP8, MOGAT2, MPEG1, MPZL2, MPZL3, MRE11, MRGPRD, MRGPRF, MRPL11, MRPL16, MRPL21, MRPL48, MRPL49, MS4A1, MS4A10, MS4A12, MS4A13, MS4A14, MS4A15, MS4A18, MS4A2, MS4A3, MS4A4A, MS4A4E, MS4A5, MS4A6A, MS4A6E, MS4A7, MS4A8, MSANTD2, MSANTD4, MTA2, MTCH2, MTMR2, MTNR1B, MUS81, MYBPC3, MYEOV, MYO7A, MYRF, NAA40, NAALAD2, NAALADL1, NADSYN1, NARS2, NAT10, NCAM1, NCAPD3, NDUFC2, NDUFC2-KCTD14, NDUFS3, NDUFS8, NDUFV1, NDUFV1-DT, NEAT1, NECTIN1, NEU3, NFRKB, NHERF4, NKAPD1, NLRX1, NNMT, NOX4, NPAS4, NPAT, NR1H3, NRGN, NRXN2, NTM, NUDT22, NUDT8, NUMA1, NUP160, NXF1, NXPE1, NXPE2, NXPE4, OAF, OMP, OOSP2, OPCML, OR10AG1, OR10G4, OR10G7, OR10G8, OR10G9, OR10Q1, OR10S1, OR10V1, OR10W1, OR1S1, OR1S2, OR2AT4, OR4A15, OR4A16, OR4A47, OR4A5, OR4B1, OR4C11, OR4C12, OR4C13, OR4C15, OR4C16, OR4C3, OR4C46, OR4C6, OR4D10, OR4D11, OR4D5, OR4D6, OR4D9, OR4P4, OR4S1, OR4S2, OR4X1, OR4X2, OR5A1, OR5A2, OR5AK2, OR5AN1, OR5AP2, OR5AR1, OR5AS1, OR5B12, OR5B17, OR5B2, OR5B21, OR5B3, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5I1, OR5J2, OR5L1, OR5L2, OR5M1, OR5M10, OR5M11, OR5M3, OR5M8, OR5M9, OR5T1, OR5T2, OR5T3, OR5W2, OR6M1, OR6Q1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G5, OR8H1, OR8H2, OR8H3, OR8I2, OR8J1, OR8J3, OR8K1, OR8K3, OR8K5, OR8U1, OR8U3, OR9G1, OR9G4, OR9I1, OR9Q1, OR9Q2, OSBP, OTUB1, OVOL1, P2RX3, P2RY2, P2RY6, P4HA3, PAAF1, PACS1, PACSIN3, PAFAH1B2, PAK1, PAMR1, PANX1, PANX3, PATE1, PATE2, PATE3, PATE4, PATL1, PC, PCF11, PCNX3, PCSK7, PDE2A, PDGFD, PDHX, PELI3, PEX16, PGA3, PGA4, PGA5, PGM2L1, PGR, PHF21A, PHLDB1, PHOX2A, PICALM, PIH1D2, PITPNM1, PIWIL4, PKNOX2, PLAAT2, PLAAT3, PLAAT4, PLAAT5, PLCB3, PLEKHB1, PLET1, POGLUT3, POLA2, POLD3, POLD4, POLR2G, POU2AF1, POU2AF2, POU2AF3, POU2F3, PPFIA1, PPME1, PPP1CA, PPP1R14B, PPP1R32, PPP2R1B, PPP2R5B, PPP6R3, PRCP, PRDM10, PRDM11, PRDX5, PRG2, PRG3, PRPF19, PRR5L, PRRG4, PRSS23, PSMC3, PTGDR2, PTPMT1, PTPRCAP, PTPRJ, PTS, PUS3, PYGM, QSER1, RAB1B, RAB30, RAB38, RAB39A, RAB3IL1, RAB6A, RAD9A, RAG1, RAG2, RAPSN, RASGRP2, RBM14, RBM14-RBM4, RBM4, RBM4B, RBM7, RCE1, RCOR2, RDX, RELA, RELT, REXO2, RHOD, RIN1, RNASEH2C, RNF121, RNF169, RNF214, RNF26, ROBO3, ROBO4, ROM1, RPS25, RPS3, RPS6KA4, RPS6KB2, RPUSD4, RSF1, RTN3, RTN4RL2, SAC3D1, SART1, SC5D, SCGB1A1, SCGB1D1, SCGB1D2, SCGB1D4, SCGB2A1, SCGB2A2, SCN2B, SCN3B, SCN4B, SCYL1, SESN3, SDHAF2, SDHD, SELENOH, SERPING1, SERPINH1, SF1, SF3B2, SHANK2, SIAE, SIDT2, SIK2, SIK3, SIPA1, SLC15A3, SLC1A2, SLC22A10, SLC22A11, SLC22A12, SLC22A24, SLC22A25, SLC22A6, SLC22A8, SLC22A9, SLC25A45, SLC29A2, SLC35C1, SLC35F2, SLC36A4, SLC37A2, SLC37A4, SLC39A13, SLC3A2, SLC43A1, SLC43A3, SLCO2B1, SLN, SMCO4, SMTNL1, SNHG1, SNORD15A, SNORD22, SNORD25, SNORD26, SNORD27, SNORD28, SNORD29, SNORD30, SNORD31, SNX15, SNX19, SNX32, SORL1, SPA17, SPATA19, SPCS2, SPDYC, SPI1, SPINDOC, SPTBN2, SRPRA, SRSF8, SSH3, SSRP1, ST14, ST3GAL4, STARD10, STIP1, STT3A, STX3, STX5, SYT12, SYT13, SYT7, AAMDC, AASDHPPT, ABCG4, ABTB2, ACAD8, ACAT1, ACCS, ACCSL, ACER3, ACP2, ACRV1, ACTN3, ACY3, ADAMTS15, ADAMTS8, AGBL2, AHNAK, AIP, ALDH3B1, ALDH3B2, ALG8, ALG9, ALKBH3, ALKBH8, ALX4, AMBRA1, AMOTL1, ANAPC15, ANGPTL5, ANKK1, ANKRD13D, ANKRD42, ANKRD49, ANO1, AP5B1, API5, APIP, APLNR, APLP2, APOA1, APOA4, APOA5, APOC3, AQP11, ARAP1, ARAP1-AS2, ARCN1, ARFGAP2, ARHGAP1, ARHGAP20, ARHGAP32, ARHGAP42, ARHGEF12, ARHGEF17, ARHGEF17-AS1, ARL2, ARRB1, ASRGL1, ATG13, ATG16L2, ATG2A, ATL3, ATM, ATP5MG, B3GAT1, B3GAT3, B3GNT6, B4GAT1, BACE1, BACE1-AS, BAD, BANF1, BARX2, BATF2, BBS1, BCL9L, BCO2, BEST1, BIRC2, BIRC3, BLID, BRMS1, BSCL2, BSX, BTBD18, BTG4, BUD13, C11orf24, C11orf52, C11orf54, C11orf65, C11orf68, C11orf71, C11orf80, C11orf86, C11orf87, C11orf91, C11orf96, C1QTNF4, C1QTNF5, C2CD2L, C2CD3, CABP2, CABP4, CADM1, CAPN1, CAPN5, CAPRIN1, CARD16, CARD17, CARD18, CARNS1, CASP1, CASP12, CASP4, CASP5, CAT, CATSPER1, CATSPERZ, CBL, CBLIF, CCDC15, CCDC153, CCDC81, CCDC82, CCDC83, CCDC85B, CCDC86, CCDC87, CCDC88B, CCDC89, CCDC90B, CCND1, CCS, CD248, CD3D, CD3E, CD3G, CD44, CD5, CD59, CD6, CD82, CDC42BPG, CDC42EP2, CDCA5, CDK2AP2, CDON, CELF1, CENATAC, CEP126, CEP164, CEP295, CEP57, CFAP300, CFAP68, CFL1, CHEK1, CHKA, CHORDC1, CHRDL2, CHRM1, CHRM4, CHST1, CKAP5, CLCF1, CLDN25, CLMP, CLNS1A, CLP1, CLPB, CNIH2, CNTF, CNTN5, COA4, COMMD9, CORO1B, COX8A, CPSF7, CPT1A, CREB3L1, CREBZF, CRTAM, CRY2, CRYAB, CSKMT, CST6, CSTF3, CSTPP1, CTNND1, CTSC, CTSF, CTSW, CTTN, CUL5, CWC15, CWF19L2, CXCR5, CYB561A3, DAGLA, DCPS, DCUN1D5, DDB1, DDB2, DDI1, DDIAS, DDX10, DDX25, DDX6, DEFB108B, DEPDC7, DEUP1, DGAT2, DGKZ, DHCR7, DIXDC1, DLAT, DLG2, DNAJB13, DNAJC4, DPAGT1, DPF2, DPP3, DRAP1, DRD2, DSCAML1, DTX4, DYNC2H1, EED, EEF1G, EFEMP2, EHBP1L1, EHD1, EHF, EI24, EIF1AD, ELF5, ELMOD1, EML3, EMSY, ENDOD1, ESAM, ESRRA, ETS1, EXPH5, EXT2, F2, FADD, FADS1, FADS2, FADS3, FAM111A, FAM111B, FAM118B, FAM168A, FAM180B, FAM181B, FAM76B, FAM86C1P, FAM89B, FAT3, FAU, FBXO3, FCHSD2, FDX1, FDXACB1, FEN1, FERMT3, FEZ1, FGF19, FGF3, FGF4, FIBP, FJX1, FKBP2, FLI1, FLRT1, FNBP4, FOLH1, FOLH1B, FOLR1, FOLR2, FOLR3, FOSL1, FOXR1, FOXRED1, FREY1, FRMD8, FTH1, FUT4, FXYD2, FXYD6, FXYD6-FXYD2, FZD4, GAB2, GAL, GAL3ST3, GANAB, GDPD4, GDPD5, GLB1L2, GLB1L3, GLYAT, GLYATL1, GLYATL2, GNG3, GPHA2, GPR137, GPR152, GPR83, GRAMD1B, SYTL2, SYVN1, TAF1D, TAF6L, TAGLN, TBC1D10C, TBCEL, TBRG1, TBX10, TCIRG1, TCN1, TCP11L1, TECTA, TENM4, TESMIN, TEX12, THAP12, THRSP, THY1, THYN1, TIGD3, TIMM10, TIMM8B, TIRAP, TKFC, TLCD5, TM7SF2, TMEM109, TMEM123, TMEM126A, TMEM126B, TMEM132A, TMEM133, TMEM134, TMEM135, TMEM138, TMEM151A, TMEM179B, TMEM216, TMEM218, TMEM223, TMEM225, TMEM25, TMEM258, TMEM45B, TMPRSS13, TMPRSS4, TMPRSS5, TMX2, TNKS1BP1, TP53AIP1, TP53I11, TPBGL, TPCN2, TRAF6, TRAPPC4, TREH, TRIM29, TRIM44, TRIM48, TRIM49, TRIM49B, TRIM49C, TRIM49D1, TRIM49D2, TRIM51, TRIM64, TRIM64B, TRIM64C, TRIM77, TRMT112, TRPC6, TRPT1, TSGA10IP, TSKU, TSPAN18, TTC12, TTC17, TTC36, TTC9C, TUT1, TYR, UBASH3B, UBE2L6, UBE4A, UBTFL1, UBXN1, UCP2, UCP3, UNC93B1, UPK2, UQCC3, USP2, USP28, USP35, UVRAG, VEGFB, VPS11, VPS26B, VPS37C, VPS51, VSIG2, VSTM5, VWA5A, VWCE, WDR74, WNT11, XRRA1, YAP1, YIF1A, YPEL4, ZBTB16, ZBTB3, ZBTB44, ZC3H12C, ZDHHC24, ZDHHC5, ZFP91, ZFPL1, ZFTA, ZNF202, ZNF408, ZNF705E, ZNHIT2, ZNRD2, ZP1, ZPR1, ZW10
MISSED ABORTIONPathogenicno assertion criteria provided
93.
GRCh37:
Chr11:64935724-66405514
not specifiedUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr11:64522783-66283694
Glycogen storage disease, type V, Bardet-Biedl syndromePathogenic
(Jul 1, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr11:65963737-66581485
not providedUncertain significance
(May 1, 2021)
no assertion criteria provided
96.
GRCh37:
Chr11:11835569-118373112
APOA1, APOA4, CAPRIN1, CARD16, CNIH2, CNTF, APOA5, APOC3, CARD17, CNTN5, COA4, F2, FADD, HOATZ, MAP6, MAPK8IP1, MARK2, NAALADL1, NADSYN1, NARS2, OR5AS1, PGA4, RASSF10, RBM14, RBM14-RBM4, RBM4, RBM4B, RBM7, RCE1, RCN1, RCOR2, RDX, RELA, RELT, REXO2, RHOD, RIN1, RNASEH2C, RNF121, RNF169, RNF214, ROM1, PGA5, PLAAT2, PGM2L1, PGR, PHF21A, PHOX2A, PICALM, PIH1D2, PIK3C2A, PITPNM1, PIWIL4, OR5B12, OR5B17, OR5B2, OR5B3, OR5D16, OR5D18, OR5B21, OR5D13, OR5D14, OR5F1, OR5I1, OR5J2, NAT10, NAV2, NDUFV1, NDUFV1-DT, NDUFS3, NEAT1, NELL1, NCAM1, NCR3LG1, NDUFC2, NDUFC2-KCTD14, NDUFS8, MIR34B, MIR610, MMP1, MMP10, MED17, MED19, MIR34BHG, MIR34C, MDK, ME3, MIR192, MIR194-2, MIR326, HTATIP2, HTR3A, HTR3B, IL18BP, IMMP1L, IFTAP, IGHMBP2, IGSF22, IL10RA, IL18, INCENP, INPPL1, INSC, HPS5, HSD17B12, HSPB2, FAM86C1P, FAM89B, FANCF, FAR1, FCHSD2, FAT3, FAU, FBXO3, FADS1, FADS2, FADS3, FAM111A, FAM111B, FAM168A, FAM180B, FAM181B, FAM76B, CRY2, CRYAB, CSKMT, CSRP3, COX8A, CREB3L1, CREBZF, COPB1, COMMD9, CORO1B, CPSF7, CPT1A, CATSPER1, CARNS1, CASP12, CASP4, CARD18, CATSPERZ, CASP1, CASP5, CAT, ARFGAP2, ARHGAP1, ARAP1, ARAP1-AS2, ARHGEF17-AS1, ARL14EP, AQP11, ARL2, ARHGAP20, ARHGAP42, ARHGEF17, ASRGL1, ATG13, ARRB1, AAMDC, AASDHPPT, ABCC8, ABTB2, ACAT1, ACCS, ACCSL, ACER3, ACP2, ACTN3, ACY3, AGBL2, AHNAK, AIP, ALDH3B1, ALDH3B2, ALG8, ALG9, ALKBH3, ALKBH8, ALX4, AMBRA1, AMOTL1, ANAPC15, ANGPTL5, ANKK1, ANKRD13D, ANKRD42, ANKRD49, ANO1, ANO3, ANO5, AP5B1, API5, APIP, APLNR, ATG16L2, ATG2A, ATL3, ATM, ATP5MG, B3GAT3, B3GNT6, B4GAT1, BACE1, BACE1-AS, BAD, BANF1, BATF2, BBOX1, BBS1, BCO2, BDNF, BDNF-AS, BEST1, BIRC2, BIRC3, BMAL1, BRMS1, BSCL2, BTBD10, BTBD18, BTG4, BUD13, C11orf24, C11orf52, C11orf54, C11orf58, C11orf65, C11orf68, C11orf71, C11orf86, C11orf87, C11orf91, C11orf96, C1QTNF4, C2CD3, CABP2, CABP4, CADM1, CALCA, CALCB, CAPN1, CAPN5, CBLIF, CCDC179, CCDC34, CCDC73, CCDC81, CCDC82, CCDC83, CCDC85B, CCDC86, CCDC87, CCDC88B, CCDC89, CCDC90B, CCND1, CCS, CD248, CD3D, CD3E, CD3G, CD44, CD5, CD59, CD6, CD82, CDC42BPG, CDC42EP2, CDCA5, CDK2AP2, CELF1, CEP126, CEP164, CEP295, CEP57, CFAP300, CFAP68, CFL1, CHKA, CHORDC1, CHRDL2, CHRM1, CHRM4, CHST1, CKAP5, CLCF1, CLDN25, CLNS1A, CLP1, CLPB, CST6, CSTF3, CSTPP1, CTNND1, CTSC, CTSF, CTSW, CTTN, CUL5, CWC15, CWF19L2, CYB561A3, CYP2R1, DAGLA, DBX1, DCDC1, DCUN1D5, DDB1, DDB2, DDI1, DDIAS, DDX10, DEFB108B, DEPDC7, DEUP1, DGAT2, DGKZ, DHCR7, DIXDC1, DKK3, DLAT, DLG2, DNAJB13, DNAJC24, DNAJC4, DPF2, DPP3, DRAP1, DRD2, DSCAML1, DTX4, DYNC2H1, E2F8, EED, EEF1G, EFEMP2, EHBP1L1, EHD1, EHF, EIF1AD, EIF3M, ELF5, ELMOD1, ELP4, EML3, EMSY, ENDOD1, ESRRA, EXPH5, EXT2, FDX1, FDXACB1, FEN1, FERMT3, FGF19, FGF3, FGF4, FIBIN, FIBP, FJX1, FKBP2, FLRT1, FNBP4, FOLH1, FOLH1B, FOLR1, FOLR2, FOLR3, FOSL1, FREY1, FRMD8, FSHB, FTH1, FUT4, FXYD2, FXYD6, FXYD6-FXYD2, FZD4, GAB2, GAL, GAL3ST3, GANAB, GAS2, GDPD4, GDPD5, GLYAT, GLYATL1, GLYATL2, GNG3, GPHA2, GPR137, GPR152, GPR83, GRIA4, GRK2, GRM5, GSTP1, GTF2H1, GUCY1A2, HARBI1, HEPHL1, HIKESHI, HIPK3, HNRNPUL2, INTS4, INTS5, IZUMO1R, JAML, JRKL, KAT5, KBTBD3, KBTBD4, KCNA4, KCNC1, KCNE3, KCNJ11, KCNK4, KCNK7, KCTD14, KCTD21, KDM2A, KDM4D, KDM4E, KIAA1549L, KIF18A, KLC2, KLHL35, KMT2A, KMT5B, KRTAP5-10, KRTAP5-11, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LARGE2, LAYN, LBHD1, LDHA, LDHAL6A, LDHC, LDLRAD3, LGALS12, LGR4, LIN7C, LINC00294, LIPT2, LMO2, LOC100132686, LPXN, LRFN4, LRP4, LRP5, LRRC10B, LRRC32, LRRC4C, LRRC55, LRRN4CL, LRTOMT, LTBP3, LTO1, LUZP2, MACROD1, MADD, MADD-AS1, MAJIN, MALAT1, MAML2, MAP3K11, MAP4K2, MEN1, METTL15, MICAL2, MICALCL, MIR130A, MIR139, MMP12, MMP13, MMP20, MMP27, MMP3, MMP7, MMP8, MOGAT2, MPEG1, MPPED2, MPZL2, MPZL3, MRE11, MRGPRD, MRGPRF, MRGPRX1, MRGPRX2, MRGPRX3, MRGPRX4, MRPL11, MRPL16, MRPL21, MRPL48, MRPL49, MS4A1, MS4A10, MS4A12, MS4A13, MS4A14, MS4A15, MS4A18, MS4A2, MS4A3, MS4A4A, MS4A4E, MS4A5, MS4A6A, MS4A6E, MS4A7, MS4A8, MSANTD4, MTA2, MTCH2, MTMR2, MTNR1B, MUC15, MUS81, NAALAD2, MYBPC3, MYEOV, MYO7A, MYOD1, MYRF, NAA40, NEU3, NKAPD1, NNMT, NOX4, NPAS4, NPAT, NR1H3, NRXN2, NUCB2, NUDT22, NUDT8, NUMA1, NUP160, NXF1, NXPE1, NXPE2, NXPE4, OMP, OOSP2, OR10AG1, OR10Q1, OR10V1, OR10W1, OR1S1, OR1S2, OR2AT4, OR4A15, OR4A16, OR4A47, OR4A5, OR4B1, OR4C11, OR4C12, OR4C13, OR4C15, OR4C16, OR4C3, OR4C46, OR4C6, OR4D10, OR4D11, OR4D6, OR4D9, OR4P4, OR4S1, OR4S2, OR4X1, OR4X2, OR5A1, OR5A2, OR5AK2, OR5AN1, OR5AP2, OR5AR1, OR5L1, OR5L2, OR5M1, OR5M10, OR5M11, OR5M3, OR5M8, OR5M9, OR5T1, OR5T2, OR5T3, OR5W2, OR6Q1, OR8H1, OR8H2, OR8H3, OR8I2, OR8J1, OR8J3, OR8K1, OR8K3, OR8K5, OR8U1, OR8U3, OR9G1, OR9G4, OR9I1, OR9Q1, OR9Q2, OSBP, OTOG, OTUB1, OVOL1, P2RX3, P2RY2, P2RY6, P4HA3, PAAF1, PACS1, PACSIN3, PAFAH1B2, PAK1, PAMR1, PANX1, PARVA, PATL1, PAX6, PC, PCF11, PCNX3, PCSK7, PDE2A, PDE3B, PDGFD, PDHX, PELI3, PEX16, PGA3, PLAAT3, PLAAT4, PLAAT5, PLCB3, PLEKHA7, PLEKHB1, PLET1, POGLUT3, POLA2, POLD3, POLD4, POLR2G, POU2AF1, POU2AF2, POU2AF3, PPFIA1, PPME1, PPP1CA, PPP1R14B, PPP2R1B, PPP2R5B, PPP6R3, PRCP, PRDM11, PRDX5, PRG2, PRG3, PRMT3, PRPF19, PRR5L, PRRG4, PRSS23, PSMA1, PSMC3, PTGDR2, PTH, PTPMT1, PTPN5, PTPRCAP, PTPRJ, PTS, PYGM, QSER1, RAB1B, RAB30, RAB38, RAB39A, RAB3IL1, RAB6A, RAD9A, RAG1, RAG2, RAPSN, RASGRP2, RPS13, RPS3, RPS6KA4, RPS6KB2, RRAS2, RSF1, RTN3, RTN4RL2, SAA1, SAA2, SAA2-SAA4, SAA4, SAAL1, SAC3D1, SART1, SAXO4, SCGB1A1, SCGB1D1, SCGB1D2, SCGB1D4, SCGB2A1, SCGB2A2, SCN2B, SCN4B, SCYL1, SDHAF2, SDHD, SELENOH, SERGEF, SERPING1, SERPINH1, SESN3, SF1, SF3B2, SHANK2, SIDT2, SIK2, SIK3, SIPA1, SLC15A3, SLC22A24, SLC17A6, SLC1A2, SLC22A10, SLC22A11, SLC22A12, SLC22A25, SLC22A6, SLC22A8, SLC22A9, SLC25A45, SLC29A2, SLC35C1, SLC35F2, SLC36A4, SLC39A13, SLC3A2, SLC43A1, SLC43A3, SLC5A12, SLC6A5, SLCO2B1, SLN, SMCO4, SMTNL1, SNHG1, SNORD15A, SNORD22, SNORD25, SNORD26, SNORD27, SNORD28, SNORD29, SNORD30, SNORD31, SNX15, SNX32, SOX6, SPCS2, SPDYC, SPI1, SPINDOC, SPON1, SPTBN2, SPTY2D1, SRSF8, SSH3, SSRP1, STARD10, STIP1, STX3, STX5, SVIP, SYT12, SYT13, SYT7, SYTL2, SYVN1, TAF1D, TAF6L, TAGLN, TBC1D10C, TBX10, TCIRG1, TCN1, TCP11L1, TEAD1, TENM4, TESMIN, TEX12, THAP12, THRSP, TIGD3, TIMM10, TIMM8B, TKFC, TM7SF2, TMEM109, TMEM123, TMEM126A, TMEM126B, TMEM132A, TMEM133, TMEM134, TMEM135, TMEM138, TMEM151A, TMEM179B, TMEM216, TMEM223, TMEM258, TMEM86A, TMPRSS13, TMPRSS4, TMPRSS5, TMX2, TNKS1BP1, TOP6BL, TP53I11, TPBGL, TPCN2, TPH1, TRAF6, TRIM44, TRIM48, TRIM49, TRIM49B, TRIM49C, TRIM49D1, TRIM49D2, TRIM51, TRIM64, TRIM64B, TRIM64C, TRIM77, TRMT112, TRPC6, TRPT1, TSG101, TSGA10IP, TSKU, TSPAN18, TTC12, TTC17, TTC9C, TUT1, TYR, UBE2L6, UBE4A, UBTFL1, UBXN1, UCP2, UCP3, UEVLD, UNC93B1, UQCC3, USH1C, USP28, USP35, USP47, UVRAG, VEGFB, VPS37C, VPS51, VSTM5, VWCE, WDR74, WNT11, WT1, WT1-AS, XRRA1, YAP1, YIF1A, YPEL4, ZBTB16, ZBTB3, ZC3H12C, ZDHHC13, ZDHHC24, ZDHHC5, ZFP91, ZFPL1, ZFTA, ZNF408, ZNF705E, ZNHIT2, ZNRD2, ZP1, ZPR1, ZW10
Intellectual disabilityPathogenic
(Feb 25, 2021)
no assertion criteria provided
97.
GRCh37:
Chr11:65138976-67574402
not providedPathogenic
(Nov 1, 2018)
criteria provided, single submitter
98.
GRCh37:
Chr11:70864-134938470
CHORDC1, CHRDL2, CHRM1, CHRM4, CHRNA10, CHST1, CIMAP1A, CKAP5, CLCF1, CLDN25, CLMP, CLNS1A, CLP1, CLPB, CNGA4, CNIH2, CNTF, CNTN5, COA4, COMMD9, COPB1, CORO1B, COX8A, CPSF7, CPT1A, CRACR2B, CREB3L1, CREBZF, CRTAM, CRY2, CRYAB, CSKMT, CSNK2A3, CSRP3, CST6, CSTF3, CSTPP1, CTNND1, CTR9, CTSC, CTSD, CTSF, CTSW, CTTN, CUL5, CWC15, CWF19L2, CXCR5, CYB561A3, CYB5R2, CYP2R1, DAGLA, DBX1, DCDC1, DCHS1, DCPS, DCUN1D5, DDB1, DDB2, DDI1, DDIAS, DDX10, DDX25, DDX6, DEAF1, DEFB108B, DENND2B, DENND5A, DEPDC7, DEUP1, DGAT2, DGKZ, DHCR7, DIXDC1, DKK3, DLAT, DLG2, DNAJB13, DNAJC24, DNAJC4, DNHD1, DPAGT1, DPF2, DPP3, DRAP1, DRD2, DRD4, DSCAML1, DTX4, DUSP8, DYNC2H1, E2F8, EED, EEF1G, EFEMP2, EHBP1L1, EHD1, EHF, EI24, EIF1AD, EIF3F, EIF3M, EIF4G2, ELF5, ELMOD1, ELP4, EML3, EMSY, ENDOD1, EPS8L2, ESAM, ESRRA, ETS1, EXPH5, EXT2, F2, FADD, FADS1, FADS2, FADS3, FAM111A, FAM111B, FAM118B, FAM168A, FAM180B, FAM181B, FAM76B, FAM86C1P, FAM89B, FANCF, FAR1, FAT3, FAU, FBXO3, FCHSD2, FDX1, FDXACB1, FEN1, FERMT3, FEZ1, FGF19, FGF3, FGF4, FHIP1B, FIBIN, FIBP, FJX1, FKBP2, FLI1, FLRT1, FNBP4, FOLH1, FOLH1B, FOLR1, FOLR2, FOLR3, FOSL1, FOXR1, FOXRED1, FREY1, FRMD8, FSHB, FTH1, FUT4, FXYD2, FXYD6, FXYD6-FXYD2, FZD4, GAB2, GAL, GAL3ST3, GALNT18, GANAB, GAS2, GATD1, GDPD4, GDPD5, GLB1L2, GLB1L3, GLYAT, GLYATL1, GLYATL2, GNG3, GPHA2, GPR137, GPR152, GPR83, GRAMD1B, GRIA4, GRIK4, GRK2, GRM5, GSTP1, GTF2H1, GUCY1A2, H19, H2AX, HARBI1, HBB, HBD, HBE1, HBG1, HBG2, HEPACAM, HEPHL1, HEPN1, HIKESHI, HINFP, HIPK3, HMBS, HNRNPUL2, HOATZ, HPS5, HPX, HRAS, HSD17B12, HSPA8, HSPB2, HTATIP2, HTR3A, HTR3B, HYLS1, HYOU1, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IFT46, IFTAP, IGF2, IGF2-AS, IGHMBP2, IGSF22, IGSF9B, IL10RA, IL18, IL18BP, ILK, IMMP1L, INCENP, INPPL1, INS, INS-IGF2, INSC, INTS4, INTS5, IPO7, IRAG1, IRF7, IZUMO1R, JAM3, JAML, JHY, JRKL, KAT5, KBTBD3, KBTBD4, KCNA4, KCNC1, KCNE3, KCNJ1, KCNJ11, KCNJ5, KCNJ5-AS1, KCNK4, KCNK7, KCNQ1, KCNQ1DN, KCNQ1OT1, KCTD14, KCTD21, KDM2A, KDM4D, KDM4E, KIAA1549L, KIF18A, KIRREL3, KLC2, KLHL35, KMT2A, KMT5B, KRTAP5-1, KRTAP5-10, KRTAP5-11, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LARGE2, LAYN, LBHD1, LDHA, LDHAL6A, LDHC, LDLRAD3, LGALS12, LGR4, LIN7C, LINC00294, LINC02714, LINC02743, LINC02873, LIPT2, LMNTD2, LMNTD2-AS1, LMO1, LMO2, LOC100132686, LOC101929473, LPXN, LRFN4, LRP4, LRP5, LRRC10B, LRRC32, LRRC4C, LRRC55, LRRC56, LRRN4CL, LRTOMT, LSP1, LTBP3, LTO1, LUZP2, LYVE1, MACROD1, MADD, MADD-AS1, MAJIN, MALAT1, MAML2, MAP3K11, MAP4K2, MAP6, MAPK8IP1, MARK2, MCAM, MDK, ME3, MED17, MED19, MEN1, METTL15, MFRP, MICAL2, MICALCL, MIR100, MIR125B1, MIR130A, MIR139, MIR192, MIR194-2, MIR210, MIR210HG, MIR326, MIR34B, MIR34BHG, MIR34C, MIR610, MIRLET7A2, MMP1, MMP10, MMP12, MMP13, MMP20, MMP26, MMP27, MMP3, MMP7, MMP8, MOB2, MOGAT2, MPEG1, MPPED2, MPZL2, MPZL3, MRE11, MRGPRD, MRGPRE, MRGPRF, MRGPRG, MRGPRX1, MRGPRX2, MRGPRX3, MRGPRX4, MRPL11, MRPL16, MRPL17, MRPL21, MRPL23, MRPL48, MRPL49, MS4A1, MS4A10, MS4A12, MS4A13, MS4A14, MS4A15, MS4A18, MS4A2, MS4A3, MS4A4A, MS4A4E, MS4A5, MS4A6A, MS4A6E, MS4A7, MS4A8, MSANTD2, MSANTD4, MTA2, MTCH2, MTMR2, MTNR1B, MTRNR2L8, MUC15, MUC2, MUC5AC, MUC5B, MUC6, MUS81, MYBPC3, MYEOV, MYO7A, MYOD1, MYRF, NAA40, NAALAD2, NAALADL1, NADSYN1, NAP1L4, NARS2, NAT10, NAV2, NCAM1, NCAPD3, NCR3LG1, NDUFC2, NDUFC2-KCTD14, NDUFS3, NDUFS8, NDUFV1, NDUFV1-DT, NEAT1, NECTIN1, NELL1, NEU3, NFRKB, NHERF4, NKAPD1, NLRP10, NLRP14, NLRP6, NLRX1, NNMT, NOX4, NPAS4, NPAT, NR1H3, NRGN, NRIP3, NRXN2, NTM, NUCB2, NUDT22, NUDT8, NUMA1, NUP160, NUP98, NXF1, NXPE1, NXPE2, NXPE4, OAF, OLFML1, OMP, OOSP2, OPCML, OR10A2, OR10A3, OR10A4, OR10A5, OR10A6, OR10AG1, OR10G4, OR10G7, OR10G8, OR10G9, OR10Q1, OR10S1, OR10V1, OR10W1, OR1S1, OR1S2, OR2AG1, OR2AG2, OR2AT4, OR2D2, OR2D3, OR4A15, OR4A16, OR4A47, OR4A5, OR4B1, OR4C11, OR4C12, OR4C13, OR4C15, OR4C16, OR4C3, OR4C46, OR4C6, OR4D10, OR4D11, OR4D5, OR4D6, OR4D9, OR4P4, OR4S1, OR4S2, OR4X1, OR4X2, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B4, OR5A1, OR5A2, OR5AK2, OR5AN1, OR5AP2, OR5AR1, OR5AS1, OR5B12, OR5B17, OR5B2, OR5B21, OR5B3, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5I1, OR5J2, OR5L1, OR5L2, OR5M1, OR5M10, OR5M11, OR5M3, OR5M8, OR5M9, OR5P2, OR5P3, OR5T1, OR5T2, OR5T3, OR5W2, OR6A2, OR6M1, OR6Q1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G5, OR8H1, OR8H2, OR8H3, OR8I2, OR8J1, OR8J3, OR8K1, OR8K3, OR8K5, OR8U1, OR8U3, OR9G1, OR9G4, OR9I1, OR9Q1, OR9Q2, OSBP, OSBPL5, OTOG, OTUB1, OVCH2, OVOL1, P2RX3, P2RY2, P2RY6, P4HA3, PAAF1, PACS1, PACSIN3, PAFAH1B2, PAK1, PAMR1, PANX1, PANX3, PARVA, PATE1, PATE2, PATE3, PATE4, PATL1, PAX6, PC, PCF11, PCNX3, PCSK7, PDE2A, PDE3B, PDGFD, PDHX, PELI3, PEX16, PGA3, PGA4, PGA5, PGAP2, PGGHG, PGM2L1, PGR, PHF21A, PHLDA2, PHLDB1, PHOX2A, PHRF1, PICALM, PIDD1, PIH1D2, PIK3C2A, PITPNM1, PIWIL4, PKNOX2, PKP3, PLAAT2, PLAAT3, PLAAT4, PLAAT5, PLCB3, PLEKHA7, PLEKHB1, PLET1, PNPLA2, POGLUT3, POLA2, POLD3, POLD4, POLR2G, POLR2L, POU2AF1, POU2AF2, POU2AF3, POU2F3, PPFIA1, PPFIBP2, PPME1, PPP1CA, PPP1R14B, PPP2R1B, PPP2R5B, PPP6R3, PRCP, PRDM10, PRDM11, PRDX5, PRG2, PRG3, PRMT3, PRPF19, PRR5L, PRRG4, PRSS23, PSMA1, PSMC3, PSMD13, PTDSS2, PTGDR2, PTH, PTPMT1, PTPN5, PTPRCAP, PTPRJ, PTS, PUS3, PYGM, QSER1, RAB1B, RAB30, RAB38, RAB39A, RAB3IL1, RAB6A, RAD9A, RAG1, RAG2, RAPSN, RASGRP2, RASSF10, RASSF7, RBM14, RBM14-RBM4, RBM4, RBM4B, RBM7, RBMXL2, RCE1, RCN1, RCOR2, RDX, RELA, RELT, REXO2, RHOD, RHOG, RIC3, RIC8A, RIN1, RNASEH2C, RNF121, RNF141, RNF169, RNF214, RNF26, RNH1, ROBO3, ROBO4, ROM1, RPL27A, RPLP2, RPS13, RPS25, RPS3, RPS6KA4, RPS6KB2, RPUSD4, RRAS2, RRM1, RRP8, RSF1, RTN3, RTN4RL2, SAA1, SAA2, SAA2-SAA4, SAA4, SAAL1, SAC3D1, SART1, SAXO4, SBF2, SC5D, SCGB1A1, SCGB1C1, SCGB1D1, SCGB1D2, SCGB1D4, SCGB2A1, SCGB2A2, SCN2B, SCN3B, SCN4B, SCT, SCUBE2, SCYL1, SDHAF2, SDHD, SELENOH, SERGEF, SERPING1, SERPINH1, SESN3, SF1, SF3B2, SHANK2, SIAE, SIDT2, SIGIRR, SIK2, SIK3, SIPA1, SIRT3, SLC15A3, SLC17A6, SLC1A2, SLC22A10, SLC22A11, SLC22A12, SLC22A18, SLC22A18AS, SLC22A24, SLC22A25, SLC22A6, SLC22A8, SLC22A9, SLC25A22, SLC25A45, SLC29A2, SLC35C1, SLC35F2, SLC36A4, SLC37A2, SLC37A4, SLC39A13, SLC3A2, SLC43A1, SLC43A3, SLC5A12, SLC6A5, SLCO2B1, SLN, SMCO4, SMPD1, SMTNL1, SNHG1, SNORA3B, SNORD15A, SNORD22, SNORD25, SNORD26, SNORD27, SNORD28, SNORD29, SNORD30, SNORD31, SNX15, SNX19, SNX32, SORL1, SOX6, SPA17, SPATA19, SPCS2, SPDYC, SPI1, SPINDOC, SPON1, SPTBN2, SPTY2D1, SRPRA, SRSF8, SSH3, SSRP1, ST14, ST3GAL4, STARD10, STIM1, STIP1, STK33, STT3A, STX3, STX5, SVIP, SWAP70, SYT12, SYT13, SYT7, SYT8, SYT9, SYTL2, SYVN1, TAF10, TAF1D, TAF6L, TAGLN, TALDO1, TBC1D10C, TBCEL, TBRG1, TBX10, TCIRG1, TCN1, TCP11L1, TEAD1, TECTA, TENM4, TESMIN, TEX12, TH, THAP12, THRSP, THY1, THYN1, TIGD3, TIMM10, TIMM10B, TIMM8B, TIRAP, TKFC, TLCD5, TM7SF2, TMEM109, TMEM123, TMEM126A, TMEM126B, TMEM132A, TMEM133, TMEM134, TMEM135, TMEM138, TMEM151A, TMEM179B, TMEM216, TMEM218, TMEM223, TMEM225, TMEM25, TMEM258, TMEM41B, TMEM45B, TMEM80, TMEM86A, TMEM9B, TMPRSS13, TMPRSS4, TMPRSS5, TMX2, TNKS1BP1, TNNI2, TNNT3, TOLLIP, TOP6BL, TP53AIP1, TP53I11, TPBGL, TPCN2, TPH1, TPP1, TRAF6, TRAPPC4, TREH, TRIM21, TRIM22, TRIM29, TRIM3, TRIM34, TRIM44, TRIM48, TRIM49, TRIM49B, TRIM49C, TRIM49D1, TRIM49D2, TRIM5, TRIM51, TRIM6, TRIM64, TRIM64B, TRIM64C, TRIM66, TRIM68, TRIM77, TRMT112, TRPC6, TRPM5, TRPT1, TSG101, TSGA10IP, TSKU, TSPAN18, TSPAN32, TSPAN4, TSSC4, TTC12, TTC17, TTC36, TTC9C, TUB, TUT1, TYR, UBASH3B, UBE2L6, UBE4A, UBQLN3, UBQLNL, UBTFL1, UBXN1, UCP2, UCP3, UEVLD, UNC93B1, UPK2, UQCC3, USH1C, USP2, USP28, USP35, USP47, UVRAG, VEGFB, VPS11, VPS26B, VPS37C, VPS51, VSIG2, VSTM5, VWA5A, VWCE, WDR74, WEE1, WNT11, WT1, WT1-AS, XRRA1, YAP1, YIF1A, YPEL4, ZBED5, ZBTB16, ZBTB3, ZBTB44, ZC3H12C, ZDHHC13, ZDHHC24, ZDHHC5, ZFP91, ZFPL1, ZFTA, ZNF143, ZNF195, ZNF202, ZNF214, ZNF215, ZNF408, ZNF705E, ZNHIT2, ZNRD2, ZP1, ZPR1, ZW10, AAMDC, AASDHPPT, ABCC8, ABCG4, ABTB2, ACAD8, ACAT1, ACCS, ACCSL, ACER3, ACP2, ACRV1, ACTN3, ACY3, ADAMTS15, ADAMTS8, ADM, AGBL2, AHNAK, AIP, AKIP1, ALDH3B1, ALDH3B2, ALG8, ALG9, ALKBH3, ALKBH8, ALX4, AMBRA1, AMOTL1, AMPD3, ANAPC15, ANGPTL5, ANKK1, ANKRD13D, ANKRD42, ANKRD49, ANO1, ANO3, ANO5, ANO9, AP2A2, AP5B1, APBB1, API5, APIP, APLNR, APLP2, APOA1, APOA4, APOA5, APOC3, AQP11, ARAP1, ARAP1-AS2, ARCN1, ARFGAP2, ARFIP2, ARHGAP1, ARHGAP20, ARHGAP32, ARHGAP42, ARHGEF12, ARHGEF17, ARHGEF17-AS1, ARL14EP, ARL2, ARRB1, ART1, ART5, ASCL2, ASCL3, ASRGL1, ATG13, ATG16L2, ATG2A, ATL3, ATM, ATP5MG, B3GAT1, B3GAT3, B3GNT6, B4GALNT4, B4GAT1, BACE1, BACE1-AS, BAD, BANF1, BARX2, BATF2, BBOX1, BBS1, BCL9L, BCO2, BDNF, BDNF-AS, BEST1, BET1L, BIRC2, BIRC3, BLID, BMAL1, BRMS1, BRSK2, BSCL2, BSX, BTBD10, BTBD18, BTG4, BUD13, C11orf16, C11orf21, C11orf24, C11orf40, C11orf42, C11orf52, C11orf54, C11orf58, C11orf65, C11orf68, C11orf71, C11orf86, C11orf87, C11orf91, C11orf96, C1QTNF4, C1QTNF5, C2CD2L, C2CD3, CABP2, CABP4, CADM1, CALCA, CALCB, CAPN1, CAPN5, CAPRIN1, CARD16, CARD17, CARD18, CARNS1, CARS1, CASP1, CASP12, CASP4, CASP5, CAT, CATSPER1, CATSPERZ, CAVIN3, CBL, CBLIF, CCDC15, CCDC153, CCDC179, CCDC34, CCDC73, CCDC81, CCDC82, CCDC83, CCDC85B, CCDC86, CCDC87, CCDC88B, CCDC89, CCDC90B, CCKBR, CCND1, CCS, CD151, CD248, CD3D, CD3E, CD3G, CD44, CD5, CD59, CD6, CD81, CD82, CDC42BPG, CDC42EP2, CDCA5, CDHR5, CDK2AP2, CDKN1C, CDON, CELF1, CENATAC, CEND1, CEP126, CEP164, CEP295, CEP57, CFAP300, CFAP68, CFL1, CHEK1, CHID1, CHKA
not providedPathogenic
(Jan 1, 2013)
no assertion criteria provided
99.
GRCh37:
Chr11:198510-134934063
AAMDC, AASDHPPT, ABCC8, ABCG4, ABTB2, ACAD8, ACAT1, ACCS, ACCSL, ACER3, ACP2, ACRV1, ACTN3, ACY3, ADAMTS15, ADAMTS8, ADM, AGBL2, AHNAK, AIP, AKIP1, ALDH3B1, ALDH3B2, ALG8, ALG9, ALKBH3, ALKBH8, ALX4, AMBRA1, AMOTL1, AMPD3, ANAPC15, ANGPTL5, ANKK1, ANKRD13D, ANKRD42, ANKRD49, ANO1, ANO3, ANO5, ANO9, AP2A2, AP5B1, APBB1, API5, APIP, APLNR, APLP2, APOA1, APOA4, APOA5, APOC3, AQP11, ARAP1, ARAP1-AS2, ARCN1, ARFGAP2, ARFIP2, ARHGAP1, ARHGAP20, ARHGAP32, ARHGAP42, ARHGEF12, ARHGEF17, ARHGEF17-AS1, ARL14EP, ARL2, ARRB1, ART1, ART5, ASCL2, ASCL3, ASRGL1, ATG13, ATG16L2, ATG2A, ATL3, ATM, ATP5MG, B3GAT1, B3GAT3, B3GNT6, B4GALNT4, B4GAT1, BACE1, BACE1-AS, BAD, BANF1, BARX2, BATF2, BBOX1, BBS1, BCL9L, BCO2, BDNF, BDNF-AS, BEST1, BET1L, BIRC2, BIRC3, BLID, BMAL1, BRMS1, BRSK2, BSCL2, BSX, BTBD10, BTBD18, BTG4, BUD13, C11orf16, C11orf21, C11orf24, C11orf40, C11orf42, C11orf52, C11orf54, C11orf58, C11orf65, C11orf68, C11orf71, C11orf86, C11orf87, C11orf91, C11orf96, C1QTNF4, C1QTNF5, C2CD2L, C2CD3, CABP2, CABP4, CADM1, CALCA, CALCB, CAPN1, CAPN5, CAPRIN1, CARD16, CARD17, CARD18, CARNS1, CARS1, CASP1, CASP12, CASP4, CASP5, CAT, CATSPER1, CATSPERZ, CAVIN3, CBL, CBLIF, CCDC15, CCDC153, CCDC179, CCDC34, CCDC73, CCDC81, CCDC82, CCDC83, CCDC85B, CCDC86, CCDC87, CCDC88B, CCDC89, CCDC90B, CCKBR, CCND1, CCS, CD151, CD248, CD3D, CD3E, CD3G, CD44, CD5, CD59, CD6, CD81, CD82, CDC42BPG, CDC42EP2, CDCA5, CDHR5, CDK2AP2, CEP126, CDKN1C, CDON, CELF1, CENATAC, CEND1, CEP164, CEP295, CEP57, CFAP300, CFAP68, CFL1, CHEK1, CHID1, CHKA, CHORDC1, CHRDL2, CHRM1, CHRM4, CHRNA10, CHST1, CIMAP1A, CKAP5, CLCF1, CLDN25, CLMP, CLNS1A, CLP1, CLPB, CNGA4, CNIH2, CNTF, CNTN5, COA4, COMMD9, COPB1, CORO1B, COX8A, CPSF7, CPT1A, CRACR2B, CREB3L1, CREBZF, CRTAM, CRY2, CRYAB, CSKMT, CSNK2A3, CSRP3, CST6, CSTF3, CSTPP1, CTNND1, CTR9, CTSC, CTSD, CTSF, CTSW, CTTN, CUL5, CWC15, CWF19L2, CXCR5, CYB561A3, CYB5R2, CYP2R1, DAGLA, DBX1, DCDC1, DCHS1, DCPS, DCUN1D5, DDB1, DDB2, DDI1, DDIAS, DDX10, DDX25, DDX6, DEAF1, DEFB108B, DENND2B, DENND5A, DEPDC7, DEUP1, DGAT2, DGKZ, DHCR7, DIXDC1, DKK3, DLAT, DLG2, DNAJB13, DNAJC24, DNAJC4, DNHD1, DPAGT1, DPF2, DPP3, DRAP1, DRD2, DRD4, DSCAML1, DTX4, DUSP8, DYNC2H1, E2F8, EED, EEF1G, EFEMP2, EHBP1L1, EHD1, EHF, EI24, EIF1AD, EIF3F, EIF3M, EIF4G2, ELF5, ELMOD1, ELP4, EML3, EMSY, ENDOD1, EPS8L2, ESAM, ESRRA, ETS1, EXPH5, EXT2, F2, FADD, FADS1, FADS2, FADS3, FAM111A, FAM111B, FAM118B, FAM168A, FAM180B, FAM181B, FAM76B, FAM86C1P, FAM89B, FANCF, FAR1, FAT3, FAU, FBXO3, FCHSD2, FDX1, FDXACB1, FEN1, FERMT3, FEZ1, FGF19, FGF3, FGF4, FHIP1B, FIBIN, FIBP, FJX1, FKBP2, FLI1, FLRT1, FNBP4, FOLH1, FOLH1B, FOLR1, FOLR2, FOLR3, FOSL1, FOXR1, FOXRED1, FREY1, FRMD8, FSHB, FTH1, FUT4, FXYD2, FXYD6, FXYD6-FXYD2, FZD4, GAB2, GAL, GAL3ST3, GALNT18, GANAB, GAS2, GATD1, GDPD4, GDPD5, GLB1L2, GLB1L3, GLYAT, GLYATL1, GLYATL2, GNG3, GPHA2, GPR137, GPR152, GPR83, GRAMD1B, GRIA4, GRIK4, GRK2, GRM5, GSTP1, GTF2H1, GUCY1A2, H19, H2AX, HARBI1, HBB, HBD, HBE1, HBG1, HBG2, HEPACAM, HEPHL1, HEPN1, HIKESHI, HINFP, HIPK3, HMBS, HNRNPUL2, HOATZ, HPS5, HPX, HRAS, HSD17B12, HSPA8, HSPB2, HTATIP2, HTR3A, HTR3B, HYLS1, HYOU1, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IFT46, IFTAP, IGF2, IGF2-AS, IGHMBP2, IGSF22, IGSF9B, IL10RA, IL18, IL18BP, ILK, IMMP1L, INCENP, INPPL1, INS, INS-IGF2, INSC, INTS4, INTS5, IPO7, IRAG1, IRF7, IZUMO1R, JAM3, JAML, JHY, JRKL, KAT5, KBTBD3, KBTBD4, KCNA4, KCNC1, KCNE3, KCNJ1, KCNJ11, KCNJ5, KCNJ5-AS1, KCNK4, KCNK7, KCNQ1, KCNQ1DN, KCNQ1OT1, KCTD14, KCTD21, KDM2A, KDM4D, KDM4E, KIAA1549L, KIF18A, KIRREL3, KLC2, KLHL35, KMT2A, KMT5B, KRTAP5-1, KRTAP5-10, KRTAP5-11, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LARGE2, LAYN, LBHD1, LDHA, LDHAL6A, LDHC, LDLRAD3, LGALS12, LGR4, LIN7C, LINC00294, LINC02714, LINC02743, LINC02873, LIPT2, LMNTD2, LMNTD2-AS1, LMO1, LMO2, LOC100132686, LOC101929473, LPXN, LRFN4, LRP4, LRP5, LRRC10B, LRRC32, LRRC4C, LRRC55, LRRC56, LRRN4CL, LRTOMT, LSP1, LTBP3, LTO1, LUZP2, LYVE1, MACROD1, MADD, MADD-AS1, MAJIN, MALAT1, MAML2, MAP3K11, MAP4K2, MAP6, MAPK8IP1, MARK2, MCAM, MDK, ME3, MED17, MED19, MEN1, METTL15, MFRP, MICAL2, MICALCL, MIR100, MIR125B1, MIR130A, MIR139, MIR192, MIR194-2, MIR210, MIR210HG, MIR326, MIR34B, MIR34BHG, MIR34C, MIR610, MIRLET7A2, MMP1, MMP10, MMP12, MMP13, MMP20, MMP26, MMP27, MMP3, MMP7, MMP8, MOB2, MOGAT2, MPEG1, MPPED2, MPZL2, MPZL3, MRE11, MRGPRD, MRGPRE, MRGPRF, MRGPRG, MRGPRX1, MRGPRX2, MRGPRX3, MRGPRX4, MRPL11, MRPL16, MRPL17, MRPL21, MRPL23, MRPL48, MRPL49, MS4A1, MS4A10, MS4A12, MS4A13, MS4A14, MS4A15, MS4A18, MS4A2, MS4A3, MS4A4A, MS4A4E, MS4A5, MS4A6A, MS4A6E, MS4A7, MS4A8, MSANTD2, MSANTD4, MTA2, MTCH2, MTMR2, MTNR1B, MTRNR2L8, MUC15, MUC2, MUC5AC, MUC5B, MUC6, MUS81, MYBPC3, MYEOV, MYO7A, MYOD1, MYRF, NAA40, NAALAD2, NAALADL1, NADSYN1, NAP1L4, NARS2, NAT10, NAV2, NCAM1, NCAPD3, NCR3LG1, NDUFC2, NDUFC2-KCTD14, NDUFS3, NDUFS8, NDUFV1, NDUFV1-DT, NEAT1, NECTIN1, NELL1, NEU3, NFRKB, NHERF4, NKAPD1, NLRP10, NLRP14, NLRP6, NLRX1, NNMT, NOX4, NPAS4, NPAT, NR1H3, NRGN, NRIP3, NRXN2, NTM, NUCB2, NUDT22, NUDT8, NUMA1, NUP160, NUP98, NXF1, NXPE1, NXPE2, NXPE4, OAF, OLFML1, OMP, OOSP2, OPCML, OR10A2, OR10A3, OR10A4, OR10A5, OR10A6, OR10AG1, OR10G4, OR10G7, OR10G8, OR10G9, OR10Q1, OR10S1, OR10V1, OR10W1, OR1S1, OR1S2, OR2AG1, OR2AG2, OR2AT4, OR2D2, OR2D3, OR4A15, OR4A16, OR4A47, OR4A5, OR4B1, OR4C11, OR4C12, OR4C13, OR4C15, OR4C16, OR4C3, OR4C46, OR4C6, OR4D10, OR4D11, OR4D5, OR4D6, OR4D9, OR4P4, OR4S1, OR4S2, OR4X1, OR4X2, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B4, OR5A1, OR5A2, OR5AK2, OR5AN1, OR5AP2, OR5AR1, OR5AS1, OR5B12, OR5B17, OR5B2, OR5B21, OR5B3, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5I1, OR5J2, OR5L1, OR5L2, OR5M1, OR5M10, OR5M11, OR5M3, OR5M8, OR5M9, OR5P2, OR5P3, OR5T1, OR5T2, OR5T3, OR5W2, OR6A2, OR6M1, OR6Q1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G5, OR8H1, OR8H2, OR8H3, OR8I2, OR8J1, OR8J3, OR8K1, OR8K3, OR8K5, OR8U1, OR8U3, OR9G1, OR9G4, OR9I1, OR9Q1, OR9Q2, OSBP, OSBPL5, OTOG, OTUB1, OVCH2, OVOL1, P2RX3, P2RY2, P2RY6, P4HA3, PAAF1, PACS1, PACSIN3, PAFAH1B2, PAK1, PAMR1, PANX1, PANX3, PARVA, PATE1, PATE2, PATE3, PATE4, PATL1, PAX6, PC, PCF11, PCNX3, PCSK7, PDE2A, PDE3B, PDGFD, PDHX, PELI3, PEX16, PGA3, PGA4, PGA5, PGAP2, PGGHG, PGM2L1, PGR, PHF21A, PHLDA2, PHLDB1, PHOX2A, PHRF1, PICALM, PIDD1, PIH1D2, PIK3C2A, PITPNM1, PIWIL4, PKNOX2, PKP3, PLAAT2, PLAAT3, PLAAT4, PLAAT5, PLCB3, PLEKHA7, PLEKHB1, PLET1, PNPLA2, POGLUT3, POLA2, POLD3, POLD4, POLR2G, POLR2L, POU2AF1, POU2AF2, POU2AF3, POU2F3, PPFIA1, PPFIBP2, PPME1, PPP1CA, PPP1R14B, PPP2R1B, PPP2R5B, PPP6R3, PRCP, PRDM10, PRDM11, PRDX5, PRG2, PRG3, PRMT3, PRPF19, PRR5L, PRRG4, PRSS23, PSMA1, PSMC3, PSMD13, PTDSS2, PTGDR2, PTH, PTPMT1, PTPN5, PTPRCAP, PTPRJ, PTS, PUS3, PYGM, QSER1, RAB1B, RAB30, RAB38, RAB39A, RAB3IL1, RAB6A, RAD9A, RAG1, RAG2, RAPSN, RASGRP2, RASSF10, RASSF7, RBM14, RBM14-RBM4, RBM4, RBM4B, RBM7, RBMXL2, RCE1, RCN1, RCOR2, RDX, RELA, RELT, REXO2, RHOD, RHOG, RIC3, RIC8A, RIN1, RNASEH2C, RNF121, RNF141, RNF169, RNF214, RNF26, RNH1, ROBO3, ROBO4, ROM1, RPL27A, RPLP2, RPS13, RPS25, RPS3, RPS6KA4, RPS6KB2, RPUSD4, RRAS2, RRM1, RRP8, RSF1, RTN3, RTN4RL2, SAA1, SAA2, SAA2-SAA4, SAA4, SAAL1, SAC3D1, SART1, SAXO4, SBF2, SC5D, SCGB1A1, SCGB1D1, SCGB1D2, SCGB1D4, SCGB2A1, SCGB2A2, SCN2B, SCN3B, SCN4B, SCT, SCUBE2, SCYL1, SDHAF2, SDHD, SELENOH, SERGEF, SERPING1, SERPINH1, SESN3, SF1, SF3B2, SHANK2, SIAE, SIDT2, SIGIRR, SIK2, SIK3, SIPA1, SIRT3, SLC15A3, SLC17A6, SLC1A2, SLC22A10, SLC22A11, SLC22A12, SLC22A18, SLC22A18AS, SLC22A24, SLC22A25, SLC22A6, SLC22A8, SLC22A9, SLC25A22, SLC25A45, SLC29A2, SLC35C1, SLC35F2, SLC36A4, SLC37A2, SLC37A4, SLC39A13, SLC3A2, SLC43A1, SLC43A3, SLC5A12, SLC6A5, SLCO2B1, SLN, SMCO4, SMPD1, SMTNL1, SNHG1, SNORA3B, SNORD15A, SNORD22, SNORD25, SNORD26, SNORD27, SNORD28, SNORD29, SNORD30, SNORD31, SNX15, SNX19, SNX32, SORL1, SOX6, SPA17, SPATA19, SPCS2, SPDYC, SPI1, SPINDOC, SPON1, SPTBN2, SPTY2D1, SRPRA, SRSF8, SSH3, SSRP1, ST14, ST3GAL4, STARD10, STIM1, STIP1, STK33, STT3A, STX3, STX5, SVIP, SWAP70, SYT12, SYT13, SYT7, SYT8, SYT9, SYTL2, SYVN1, TAF10, TAF1D, TAF6L, TAGLN, TALDO1, TBC1D10C, TBCEL, TBRG1, TBX10, TCIRG1, TCN1, TCP11L1, TEAD1, TECTA, TENM4, TESMIN, TEX12, TH, THAP12, THRSP, THY1,