| - 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 cases | Pathogenic (Oct 24, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr11:65633902-66115026
- GRCh38:
- Chr11:65866431-66347555
| LOC130006108, LOC130006109, RIN1, SART1, SF3B2, SNORD13F, LOC130006113, LOC130006114, MUS81, PACS1, RAB1B, B4GAT1, BANF1, BRMS1, C11orf68, CATSPER1, CCDC85B, CD248, CNIH2, CST6, CTSW, LOC130006110, LOC130006111, LOC130006112, LOC130006115, DRAP1, EFEMP2, EIF1AD, FIBP, FOSL1, GAL3ST3, KLC2, KLC2-AS1, KLC2-AS2, LOC111413017, LOC112081411, LOC116216147, LOC116216148, LOC121832794, LOC124500674, LOC126861238, 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, TMEM151A, TSGA10IP, YIF1A | | Cutis laxa, autosomal recessive, type 1B | Uncertain significance (Dec 11, 2018) | criteria provided, single submitter |
| - 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66024557-66024773
- GRCh38:
- Chr11:66257086-66257302
| KLC2 | | SPOAN syndrome | Pathogenic (Jan 31, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr11:66024558-66024771
- GRCh38:
- Chr11:66257087-66257300
| KLC2 | | See cases | Pathogenic (May 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66026073
- GRCh38:
- Chr11:66258602
| KLC2 | M3T | Inborn genetic diseases | Likely benign (Apr 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66026075
- GRCh38:
- Chr11:66258604
| KLC2 | M4L | not provided | Uncertain significance (Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66026095
- GRCh38:
- Chr11:66258624
| KLC2 | | not provided | Likely benign (Apr 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66026125
- GRCh38:
- Chr11:66258654
| KLC2 | | not provided | Likely benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66026191
- GRCh38:
- Chr11:66258720
| KLC2 | | not provided | Benign (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66026201
- GRCh38:
- Chr11:66258730
| KLC2 | E46Q | not provided | Uncertain significance (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66026261
- GRCh38:
- Chr11:66258790
| KLC2 | E66K | Inborn genetic diseases | Uncertain significance (Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66029212
- GRCh38:
- Chr11:66261741
| KLC2, KLC2-AS1 | | not provided | Uncertain significance (Jan 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66029247
- GRCh38:
- Chr11:66261776
| KLC2, KLC2-AS1 | V88A | Inborn genetic diseases | Uncertain significance (Oct 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66029271
- GRCh38:
- Chr11:66261800
| KLC2, KLC2-AS1 | R96Q | not provided | Uncertain significance (Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66029275
- GRCh38:
- Chr11:66261804
| KLC2, KLC2-AS1 | | not provided | Benign (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66029314
- GRCh38:
- Chr11:66261843
| KLC2, KLC2-AS1 | | not provided | Likely benign (Jun 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66029353
- GRCh38:
- Chr11:66261882
| KLC2, KLC2-AS1 | S123R | Inborn genetic diseases | Uncertain significance (Jul 27, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66029362
- GRCh38:
- Chr11:66261891
| KLC2, KLC2-AS1 | | not provided | Likely benign (Jun 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66029387
- GRCh38:
- Chr11:66261916
| KLC2, KLC2-AS1 | Q135E | not provided | Uncertain significance (May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66029415
- GRCh38:
- Chr11:66261944
| KLC2, KLC2-AS1 | R144H | Inborn genetic diseases | Uncertain significance (May 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66029418
- GRCh38:
- Chr11:66261947
| KLC2, KLC2-AS1 | K145R | not provided | Uncertain significance (Nov 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66029588
- GRCh38:
- Chr11:66262117
| KLC2, KLC2-AS1 | | not provided | Benign (Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66029641
- GRCh38:
- Chr11:66262170
| KLC2, KLC2-AS1 | | not provided | Likely benign (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66029645
- GRCh38:
- Chr11:66262174
| KLC2, KLC2-AS1 | E171K, E94K | not provided | Likely benign (Aug 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66030331
- GRCh38:
- Chr11:66262860
| KLC2, KLC2-AS1 | | not provided | Likely benign (Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66030344
- GRCh38:
- Chr11:66262873
| KLC2, KLC2-AS1 | R120W, R197W | Inborn genetic diseases | Uncertain significance (Dec 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66030380
- GRCh38:
- Chr11:66262909
| KLC2, KLC2-AS1 | A209T, A132T | Inborn genetic diseases | Uncertain significance (Nov 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66030401
- GRCh38:
- Chr11:66262930
| KLC2, KLC2-AS1 | V216I, V139I | not provided | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66030447
- GRCh38:
- Chr11:66262976
| KLC2, KLC2-AS1 | T154M, T231M | not provided | Uncertain significance (Aug 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66030448
- GRCh38:
- Chr11:66262977
| KLC2, KLC2-AS1 | | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66030453
- GRCh38:
- Chr11:66262982
| KLC2, KLC2-AS1 | G233V, G156V | Inborn genetic diseases, not provided | Uncertain significance (Apr 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:66030457
- GRCh38:
- Chr11:66262986
| KLC2, KLC2-AS1 | | not provided | Likely benign (Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66030458
- GRCh38:
- Chr11:66262987
| KLC2, KLC2-AS1 | D158N, D235N | Inborn genetic diseases | Uncertain significance (Apr 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66030477
- GRCh38:
- Chr11:66263006
| KLC2, KLC2-AS1 | T241S, T164S | not provided | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66031198
- GRCh38:
- Chr11:66263727
| KLC2, KLC2-AS1 | L197V, L274V | not provided | Uncertain significance (May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66031334
- GRCh38:
- Chr11:66263863
| KLC2, KLC2-AS1 | | not provided | Likely benign (Jun 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66031351
- GRCh38:
- Chr11:66263880
| KLC2, KLC2-AS1 | | not provided | Likely benign (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66031351
- GRCh38:
- Chr11:66263880
| KLC2, KLC2-AS1 | | not provided | Benign (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66031355
- GRCh38:
- Chr11:66263884
| KLC2, KLC2-AS1 | Y215H, Y292H | not provided | Uncertain significance (Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66031402
- GRCh38:
- Chr11:66263931
| KLC2, KLC2-AS1 | | not provided | Benign (Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66031450
- GRCh38:
- Chr11:66263979
| KLC2, KLC2-AS1 | | SPOAN syndrome | Benign (Aug 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66031564
- GRCh38:
- Chr11:66264093
| KLC2, KLC2-AS1 | | not provided | Likely benign (Dec 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66031594
- GRCh38:
- Chr11:66264123
| KLC2, KLC2-AS1 | | not provided | Likely benign (Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66031614
- GRCh38:
- Chr11:66264143
| KLC2, KLC2-AS1 | Y270C, Y347C | not provided | Uncertain significance (Aug 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66031616
- GRCh38:
- Chr11:66264145
| KLC2, KLC2-AS1 | R348W, R271W | Inborn genetic diseases | Uncertain significance (Mar 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66031640
- GRCh38:
- Chr11:66264169
| KLC2, KLC2-AS1 | T356A, T279A | Inborn genetic diseases | Uncertain significance (Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66031643
- GRCh38:
- Chr11:66264172
| KLC2, KLC2-AS1 | R280C, R357C | not provided | Uncertain significance (Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66031660
- GRCh38:
- Chr11:66264189
| KLC2, KLC2-AS1 | | not provided, SPOAN syndrome | Benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:66031665
- GRCh38:
- Chr11:66264194
| KLC2, KLC2-AS1 | N287S, N364S | not provided | Uncertain significance (Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66031667
- GRCh38:
- Chr11:66264196
| KLC2, KLC2-AS1 | V288L, V365L | Inborn genetic diseases | Uncertain significance (Apr 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66031808
- GRCh38:
- Chr11:66264337
| KLC2, KLC2-AS1 | | not provided | Benign (Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66031854
- GRCh38:
- Chr11:66264383
| KLC2, KLC2-AS1 | | not provided | Likely benign (Oct 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66031874
- GRCh38:
- Chr11:66264403
| KLC2, KLC2-AS1 | I392T, I315T | not provided | Uncertain significance (Apr 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66032530
- GRCh38:
- Chr11:66265059
| KLC2, KLC2-AS1 | R341Q, R418Q | not provided, Inborn genetic diseases | Uncertain significance (Mar 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:66032649
- GRCh38:
- Chr11:66265178
| KLC2, KLC2-AS1 | R426Q, R349Q | not provided | Benign (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66032657
- GRCh38:
- Chr11:66265186
| KLC2, KLC2-AS1 | A352T, A429T | not provided | Uncertain significance (Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66032674
- GRCh38:
- Chr11:66265203
| KLC2, KLC2-AS1 | | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66032680
- GRCh38:
- Chr11:66265209
| KLC2, KLC2-AS1 | | not provided | Benign/Likely benign (Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:66032712-66032713
- GRCh38:
- Chr11:66265241-66265242
| KLC2, KLC2-AS1 | | not provided | Benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66032718
- GRCh38:
- Chr11:66265247
| KLC2-AS1, KLC2 | | not provided | Likely benign (Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66033153
- GRCh38:
- Chr11:66265682
| KLC2, KLC2-AS1 | | not provided | Likely benign (Oct 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:66033169
- GRCh38:
- Chr11:66265698
| KLC2 | R460W, R383W | Inborn genetic diseases | Uncertain significance (Jun 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66033192
- GRCh38:
- Chr11:66265721
| KLC2 | | not provided | Likely benign (Oct 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66033195
- GRCh38:
- Chr11:66265724
| KLC2 | | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66033301
- GRCh38:
- Chr11:66265830
| KLC2 | | SPOAN syndrome | Benign (Aug 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66033337
- GRCh38:
- Chr11:66265866
| KLC2 | A409T, A486T | not provided | Uncertain significance (Nov 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66033379
- GRCh38:
- Chr11:66265908
| KLC2 | G423C, G500C | Inborn genetic diseases | Uncertain significance (Jan 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66033380
- GRCh38:
- Chr11:66265909
| KLC2 | G423V, G500V | Inborn genetic diseases | Uncertain significance (Jan 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66033385
- GRCh38:
- Chr11:66265914
| KLC2 | R425W, R502W | Inborn genetic diseases | Uncertain significance (Apr 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66033392
- GRCh38:
- Chr11:66265921
| KLC2 | D504V, D427V | not provided | Uncertain significance (Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66033394
- GRCh38:
- Chr11:66265923
| KLC2 | R428C, R505C | not provided | Likely benign (Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:66033397
- GRCh38:
- Chr11:66265926
| KLC2 | R429S, R506S | Inborn genetic diseases | Uncertain significance (Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66033397
- GRCh38:
- Chr11:66265926
| KLC2 | R429G, R506G | not provided | Uncertain significance (Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66033397
- GRCh38:
- Chr11:66265926
| KLC2 | R506C, R429C | not provided | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66033398
- GRCh38:
- Chr11:66265927
| KLC2 | R429H, R506H | Inborn genetic diseases | Uncertain significance (Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66033407
- GRCh38:
- Chr11:66265936
| KLC2 | R432Q, R509Q | Inborn genetic diseases, SPOAN syndrome | Uncertain significance (Aug 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:66033413
- GRCh38:
- Chr11:66265942
| KLC2 | M511T, M434T | Inborn genetic diseases, not provided | Uncertain significance (Oct 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:66033423
- GRCh38:
- Chr11:66265952
| KLC2 | | not provided | Likely benign (Jul 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66033427
- GRCh38:
- Chr11:66265956
| KLC2 | G439R, G516R | Inborn genetic diseases | Uncertain significance (Nov 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66033428
- GRCh38:
- Chr11:66265957
| KLC2 | G439V, G516V | Inborn genetic diseases | Uncertain significance (Aug 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66033430
- GRCh38:
- Chr11:66265959
| KLC2 | P440S, P517S | not provided | Benign (Oct 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66033433
- GRCh38:
- Chr11:66265962
| KLC2 | R518G, R441G | Inborn genetic diseases | Uncertain significance (Jun 29, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66033451
- GRCh38:
- Chr11:66265980
| KLC2 | E447K, E524K | Inborn genetic diseases | Uncertain significance (Jun 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66033457
- GRCh38:
- Chr11:66265986
| KLC2 | V526M, V449M | Inborn genetic diseases | Uncertain significance (Aug 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66033622
- GRCh38:
- Chr11:66266151
| KLC2 | R554K, R477K | not provided | Uncertain significance (Apr 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66033623
- GRCh38:
- Chr11:66266152
| KLC2 | | not provided | Likely benign (Aug 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66033699
- GRCh38:
- Chr11:66266228
| KLC2 | | not provided | Likely benign (Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66033967
- GRCh38:
- Chr11:66266496
| KLC2 | | not provided | Uncertain significance (Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66034371
- GRCh38:
- Chr11:66266900
| KLC2 | R528G, R605G | not provided | Uncertain significance (Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64973914-70052579
| ACTN3, ACY3, AIP, ALDH3B1, ALDH3B2, ANKRD13D, ANO1, AP5B1, B4GAT1, BANF1, BBS1, BRMS1, C11orf24, C11orf68, C11orf86, CABP2, CABP4, CAPN1, CARNS1, CATSPER1, CCDC85B, CCDC87, CCND1, CCS, CD248, CDC42EP2, CDK2AP2, CFL1, CHKA, CLCF1, CNIH2, CORO1B, CPT1A, CST6, CTSF, CTSW, DPF2, DPP3, DRAP1, EFEMP2, EHBP1L1, EIF1AD, FADD, FAM89B, FGF19, FGF3, FGF4, FIBP, FOSL1, FRMD8, GAL, GAL3ST3, GPR152, GRK2, GSTP1, IGHMBP2, KAT5, KCNK7, KDM2A, KLC2, KMT5B, LRFN4, LRP5, LTBP3, LTO1, MALAT1, MAP3K11, MRGPRD, MRGPRF, MRPL11, MRPL21, MUS81, MYEOV, NDUFS8, NDUFV1, NDUFV1-DT, NEAT1, NPAS4, NUDT8, OVOL1, PACS1, PC, PCNX3, PELI3, PITPNM1, POLA2, POLD4, PPP1CA, PPP6R3, PTPRCAP, RAB1B, RAD9A, RBM14, RBM14-RBM4, RBM4, RBM4B, RCE1, RELA, RHOD, RIN1, RNASEH2C, RPS6KB2, SART1, SCYL1, SF3B2, SIPA1, SLC25A45, SLC29A2, SNX32, SPTBN2, SSH3, SYT12, TBC1D10C, TBX10, TCIRG1, TESMIN, TIGD3, TMEM134, TMEM151A, TOP6BL, TPCN2, TSGA10IP, UNC93B1, YIF1A, ZDHHC24, ZNRD2 | | Aicardi-Goutieres syndrome 3, FADD-related immunodeficiency | Uncertain significance (Aug 21, 2022) | criteria provided, single submitter |
| - 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 ABORTION | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr11:64935724-66405514
| ACTN3, AP5B1, B4GAT1, BANF1, BBS1, BRMS1, C11orf68, CAPN1, CATSPER1, CCDC85B, CCDC87, CCS, CD248, CDC42EP2, CFL1, CNIH2, CST6, CTSF, CTSW, DPF2, DPP3, DRAP1, EFEMP2, EHBP1L1, EIF1AD, FAM89B, FIBP, FOSL1, FRMD8, GAL3ST3, KAT5, KCNK7, KLC2, LTBP3, MALAT1, MAP3K11, MRPL11, MUS81, NEAT1, NPAS4, OVOL1, PACS1, PCNX3, PELI3, POLA2, RAB1B, RBM14, RBM14-RBM4, RELA, RIN1, RNASEH2C, SART1, SCYL1, SF3B2, SIPA1, SLC25A45, SLC29A2, SNX32, SPDYC, TIGD3, TMEM151A, TSGA10IP, YIF1A, ZDHHC24, ZNRD2 | | not specified | Uncertain significance (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64522783-66283694
| DRAP1, SNX32, SPDYC, EFEMP2, SYVN1, TIGD3, ZNHIT2, ZNRD2, TM7SF2, TMEM151A, TSGA10IP, VPS51, YIF1A, ZFPL1, FAM89B, GPHA2, EHBP1L1, EHD1, FAU, FIBP, FOSL1, FRMD8, GAL3ST3, KAT5, EIF1AD, AP5B1, ARL2, ATG2A, B4GAT1, BANF1, BATF2, BBS1, BRMS1, C11orf68, CAPN1, CATSPER1, CCDC85B, CD248, CDC42BPG, CDC42EP2, CDCA5, CFL1, CNIH2, CST6, CTSW, DPF2, DPP3, KCNK7, KLC2, LTBP3, MAJIN, MALAT1, MAP3K11, MAP4K2, MEN1, MIR192, MIR194-2, MRPL11, MRPL49, MUS81, NAALADL1, NEAT1, NPAS4, OVOL1, PACS1, PCNX3, PELI3, POLA2, PPP2R5B, PYGM, RAB1B, RELA, RIN1, RNASEH2C, SAC3D1, SART1, SCYL1, SF1, SF3B2, SIPA1, SLC25A45, SLC29A2, SNX15 | | Glycogen storage disease, type V, Bardet-Biedl syndrome | Pathogenic (Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65963737-66581485
| ACTN3, B4GAT1, BBS1, BRMS1, C11orf80, CCDC87, CCS, CD248, CNIH2, CTSF, DPP3, KLC2, MRPL11, NPAS4, PACS1, PELI3, RAB1B, RBM14, RBM14-RBM4, RBM4, RBM4B, RIN1, SLC29A2, SPTBN2, TMEM151A, YIF1A, ZDHHC24 | | not provided | Uncertain significance (May 1, 2021) | no assertion criteria provided |
| - 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 disability | Pathogenic (Feb 25, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr11:65138976-67574402
| ACTN3, ACY3, AIP, ALDH3B2, ANKRD13D, AP5B1, B4GAT1, BANF1, BBS1, BRMS1, C11orf68, C11orf80, C11orf86, CABP2, CABP4, CARNS1, CATSPER1, CCDC85B, CCDC87, CCS, CD248, CDK2AP2, CFL1, CLCF1, CNIH2, CORO1B, CST6, CTSF, CTSW, DPP3, DRAP1, EFEMP2, EHBP1L1, EIF1AD, FAM89B, FIBP, FOSL1, FRMD8, GAL3ST3, GPR152, GRK2, GSTP1, KAT5, KCNK7, KDM2A, KLC2, LRFN4, LTBP3, MALAT1, MAP3K11, MRPL11, MUS81, NDUFV1, NDUFV1-DT, NEAT1, NPAS4, NUDT8, OVOL1, PACS1, PC, PCNX3, PELI3, PITPNM1, POLD4, PPP1CA, PTPRCAP, RAB1B, RAD9A, RBM14, RBM14-RBM4, RBM4, RBM4B, RCE1, RELA, RHOD, RIN1, RNASEH2C, RPS6KB2, SART1, SCYL1, SF3B2, SIPA1, SLC25A45, SLC29A2, SNX32, SPTBN2, SSH3, SYT12, TBC1D10C, TBX10, TMEM134, TMEM151A, TSGA10IP, YIF1A, ZDHHC24, ZNRD2 | | not provided | Pathogenic (Nov 1, 2018) | criteria provided, single submitter |
| - 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 provided | Pathogenic (Jan 1, 2013) | no assertion criteria provided |
| - 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, |