| - GRCh37:
- Chr3:54079045-66046136
- GRCh38:
- Chr3:54045018-66060461
| ABHD6, ACOX2, ADAMTS9, ADAMTS9-AS1, ADAMTS9-AS2, APPL1, ARF4, ARF4-AS1, ARHGEF3, ARHGEF3-AS1, ASB14, ATXN7, C3orf14, C3orf49, CACNA2D3, CACNA2D3-AS1, CADPS, CCDC66, CFAP20DC, CFAP20DC-AS1, DENND6A, DENND6A-DT, DNAH12, DNASE1L3, ERC2, ERC2-IT1, ESRG, FAM107A, FAM3D, FAM3D-AS1, FEZF2, FHIT, FLNB, FLNB-AS1, HESX1, HTD2, IL17RD, KCTD6, LINC00698, LINC00994, LINC02017, LINC02030, LINC02040, LOC100130345, LOC105377102, LOC107325936, LOC108281136, LOC108281142, LOC108660406, LOC110120681, LOC110120682, LOC110121053, LOC110121087, LOC110121103, LOC110121117, LOC112935951, LOC112935952, LOC112935953, LOC112935954, LOC112935955, LOC114004380, LOC114004381, LOC121009673, LOC121009674, LOC121009675, LOC121009676, LOC121009677, LOC121725147, LOC121725148, LOC122965312, LOC122965316, LOC122965317, LOC122965318, LOC122965319, LOC122965320, LOC122965321, LOC122965322, LOC122965323, LOC122965324, LOC122965325, LOC122965326, LOC122965327, LOC123000067, LOC123000068, LOC123000069, LOC339902, LRTM1, MAGI1, MAGI1-AS1, MAGI1-IT1, MIR3938, MIR548BB, NPCDR1, PDE12, PDHB, PRICKLE2, PRICKLE2-AS1, PRICKLE2-AS2, PRICKLE2-AS3, PRICKLE2-DT, PSMD6, PSMD6-AS2, PTPRG, PTPRG-AS1, PXK, RPP14, SCAANT1, SLMAP, SNTN, SPATA12, SYNPR, SYNPR-AS1, TASOR, THOC7, THOC7-AS1, WNT5A | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57174452-90309110
- GRCh38:
- Chr3:57140424-90259960
| HTR1F, IL17RD, KBTBD8, KCTD6, LINC00506, LINC00698, LINC00870, LINC00877, LINC00960, LINC00971, LINC00994, LINC02005, LINC02008, LINC02018, LINC02025, LINC02027, LINC02040, LINC02047, LINC02050, LINC02070, LINC02077, LMOD3, LOC100130345, LOC101927296, LOC101927374, LOC105377102, LOC105377143, LOC105377146, LOC105377162, LOC107325936, LOC107988030, LOC107988038, LOC107988042, LOC107988044, LOC108167314, LOC108281136, LOC108281142, LOC108660406, LOC110120604, LOC110120681, LOC110120682, LOC110120720, LOC110120791, LOC110120812, LOC110120986, LOC110120994, LOC110121007, LOC110121053, LOC110121087, LOC110121119, LOC110121240, LOC111562376, LOC111589208, LOC112935952, LOC112935953, LOC112935954, LOC112935955, LOC112935956, LOC112935957, LOC112935958, LOC112935959, LOC112935961, LOC112935962, LOC114004381, LOC115995512, LOC115995513, LOC115995514, LOC121009674, LOC121009675, LOC121009676, LOC121009677, LOC121009678, LOC121009679, LOC121009680, LOC121009681, LOC121009682, LOC121725147, LOC121725148, LOC121725149, LOC122965318, LOC122965319, LOC122965320, LOC122965321, LOC122965322, LOC122965323, LOC122965324, LOC122965325, LOC122965326, LOC122965327, LOC123000067, LOC123000068, LOC123000069, LOC123000070, LOC123000071, LOC123000072, LOC123002301, LOC123002302, LOC123002303, LOC123002304, LOC123002305, LOC123002306, LOC123002307, LOC123002308, LOC123002309, LOC123002310, LOC123002311, LOC123002312, LOC339902, LRIG1, MAGI1, MAGI1-AS1, MAGI1-IT1, MDFIC2, MIR1284, MIR1324, MIR3136, MIR3923, MIR4272, MIR4273, MIR4444-2, MIR4795, MIR548BB, MIR5688, MITF, NPCDR1, PDE12, PDHB, PDZRN3, PDZRN3-AS1, POU1F1, PPP4R2, PRICKLE2, PRICKLE2-AS1, PRICKLE2-AS2, PRICKLE2-AS3, PRICKLE2-DT, PROK2, PSMD6, PSMD6-AS2, PTPRG, PTPRG-AS1, PXK, ROBO1, ROBO2, RPP14, RYBP, SAMMSON, SCAANT1, SHQ1, SLC25A26, SLMAP, SNORA95, SNTN, SUCLG2, SUCLG2-DT, SYNPR, SYNPR-AS1, TAFA1, TAFA4, THOC7, THOC7-AS1, TMF1, UBA3, VGLL3, ZNF654, ZNF717, ABHD6, ACOX2, ADAMTS9, ADAMTS9-AS1, ADAMTS9-AS2, APPL1, ARF4, ARF4-AS1, ARL6IP5, ASB14, ATXN7, C3orf14, C3orf38, C3orf49, CADM2, CADM2-AS1, CADM2-AS2, CADPS, CFAP20DC, CFAP20DC-AS1, CGGBP1, CHMP2B, CNTN3, CSNKA2IP, DENND6A, DENND6A-DT, DNAH12, DNASE1L3, EBLN2, EIF4E3, EOGT, EPHA3, FAM107A, FAM3D, FAM3D-AS1, FEZF2, FHIT, FLNB, FLNB-AS1, FOXP1, FOXP1-AS1, FOXP1-IT1, FRG2C, FRMD4B, GBE1, GPR27, GXYLT2, HESX1, HTD2 | | See cases | Pathogenic (Jul 25, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr3:57416265-64870197
- GRCh38:
- Chr3:57430538-64884522
| ABHD6, ACOX2, ADAMTS9, ADAMTS9-AS1, ADAMTS9-AS2, ARF4, ARF4-AS1, ATXN7, C3orf14, C3orf49, CADPS, CFAP20DC, CFAP20DC-AS1, DENND6A, DENND6A-DT, DNAH12, DNASE1L3, FAM107A, FAM3D, FAM3D-AS1, FEZF2, FHIT, FLNB, FLNB-AS1, HTD2, KCTD6, LINC00698, LINC00994, LOC100130345, LOC107325936, LOC108281136, LOC108281142, LOC108660406, LOC110120681, LOC110120682, LOC110121053, LOC110121087, LOC112935952, LOC112935953, LOC112935954, LOC112935955, LOC114004381, LOC121009674, LOC121009675, LOC121009676, LOC121009677, LOC121725147, LOC121725148, LOC122965318, LOC122965319, LOC122965320, LOC122965321, LOC122965322, LOC122965323, LOC122965324, LOC122965325, LOC122965326, LOC122965327, LOC339902, MIR548BB, NPCDR1, PDE12, PDHB, PRICKLE2, PRICKLE2-AS1, PRICKLE2-AS2, PRICKLE2-AS3, PRICKLE2-DT, PSMD6, PSMD6-AS2, PTPRG, PTPRG-AS1, PXK, RPP14, SCAANT1, SLMAP, SNTN, SYNPR, SYNPR-AS1, THOC7, THOC7-AS1 | | See cases | Pathogenic (Sep 21, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr3:61956521-68514983
- GRCh38:
- Chr3:61970847-68465832
| ADAMTS9, ADAMTS9-AS1, ADAMTS9-AS2, ATXN7, C3orf14, C3orf49, CADPS, FEZF2, KBTBD8, LINC00698, LINC00994, LINC02040, LOC100130345, LOC105377143, LOC108167314, LOC108660406, LOC110120681, LOC110120682, LOC110121053, LOC110121087, LOC111562376, LOC112935955, LOC121009676, LOC121009677, LOC121009678, LOC122965322, LOC122965323, LOC122965324, LOC122965325, LOC122965326, LOC122965327, LOC123000067, LOC123000068, LOC123000069, LOC123000070, LOC123000071, LRIG1, MAGI1, MAGI1-AS1, MAGI1-IT1, MIR4272, PRICKLE2, PRICKLE2-AS1, PRICKLE2-AS2, PRICKLE2-AS3, PRICKLE2-DT, PSMD6, PSMD6-AS2, PTPRG, PTPRG-AS1, SCAANT1, SLC25A26, SNTN, SUCLG2, SUCLG2-DT, SYNPR, SYNPR-AS1, TAFA1, THOC7, THOC7-AS1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63808507-64419493
- GRCh38:
- Chr3:63822831-64433817
| ATXN7, C3orf49, LINC00994, LOC108660406, LOC122965325, LOC122965326, LOC122965327, PRICKLE2, PRICKLE2-AS1, PRICKLE2-AS2, PRICKLE2-AS3, PSMD6, PSMD6-AS2, SCAANT1, THOC7, THOC7-AS1 | | See cases | Uncertain significance (Dec 10, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr3:63898353
- GRCh38:
- Chr3:63912677
| ATXN7 | A27T | Inborn genetic diseases | Uncertain significance (Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63898362
- GRCh38:
- Chr3:63912684-63912685
| ATXN7, LOC108660406 | | Spinocerebellar ataxia 7 | Pathogenic (Apr 9, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63898360-63898361
- GRCh38:
- Chr3:63912684-63912685
| ATXN7, LOC108660406 | | not specified | Likely benign (Mar 28, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63898361-63898363
- GRCh38:
- Chr3:63912685-63912687
| ATXN7, LOC108660406 | Q39del | not specified | Benign | no assertion criteria provided |
| - GRCh37:
- Chr3:63898362-63898364
- GRCh38:
- Chr3:63912686-63912688
| ATXN7, LOC108660406 | | Spinocerebellar ataxia 7 | Benign | no assertion criteria provided |
| - GRCh37:
- Chr3:63898375
- GRCh38:
- Chr3:63912699
| LOC108660406, ATXN7 | Q34P | Inborn genetic diseases | Uncertain significance (Mar 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63898384-63898385
- GRCh38:
- Chr3:63912708-63912709
| ATXN7, LOC108660406 | | Spinocerebellar ataxia 7 | Uncertain significance (Apr 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63898385
- GRCh38:
- Chr3:63912709
| ATXN7, LOC108660406 | Q37H | Inborn genetic diseases | Uncertain significance (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63898390
- GRCh38:
- Chr3:63912714
| LOC108660406, ATXN7 | Q39P | not provided | Uncertain significance (Jun 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63898485
- GRCh38:
- Chr3:63912809
| ATXN7 | S71A | Abnormality of neuronal migration | Benign (Oct 31, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr3:63898504
- GRCh38:
- Chr3:63912828
| ATXN7 | T77R | Inborn genetic diseases | Uncertain significance (Dec 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63898547
- GRCh38:
- Chr3:63912871
| ATXN7 | | not specified, not provided | Benign/Likely benign | no assertion criteria provided |
| - GRCh37:
- Chr3:63938063
- GRCh38:
- Chr3:63952387
| ATXN7 | I135V | Inborn genetic diseases | Uncertain significance (May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63965629
- GRCh38:
- Chr3:63979953
| ATXN7 | V180I, V35I | not specified | Likely benign (Sep 5, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63965655
- GRCh38:
- Chr3:63979979
| ATXN7 | F43L, F188L | Inborn genetic diseases | Uncertain significance (Dec 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63965723
- GRCh38:
- Chr3:63980047
| ATXN7 | V66A, V211A | Inborn genetic diseases | Uncertain significance (Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63965725
- GRCh38:
- Chr3:63980049
| ATXN7 | L67V, L212V | Inborn genetic diseases | Uncertain significance (Mar 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63965738
- GRCh38:
- Chr3:63980062
| ATXN7 | S216L, S71L | Inborn genetic diseases | Uncertain significance (Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63965781
- GRCh38:
- Chr3:63980105
| ATXN7 | Q230H, Q85H | Inborn genetic diseases | Uncertain significance (Nov 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63965830
- GRCh38:
- Chr3:63980154
| ATXN7 | P102S, P247S | Inborn genetic diseases | Uncertain significance (Nov 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63967872
- GRCh38:
- Chr3:63982196
| ATXN7 | S110A, S255A | Inborn genetic diseases | Uncertain significance (Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63967881
- GRCh38:
- Chr3:63982205
| ATXN7 | V113M, V258M | Inborn genetic diseases | Uncertain significance (Jul 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63967900
- GRCh38:
- Chr3:63982224
| ATXN7 | K264R, K119R | not specified | Likely benign | no assertion criteria provided |
| - GRCh37:
- Chr3:63967953
- GRCh38:
- Chr3:63982277
| ATXN7 | V282M, V137M | Abnormality of neuronal migration | Benign (Oct 31, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr3:63968089
- GRCh38:
- Chr3:63982413
| ATXN7 | N182S, N327S | Inborn genetic diseases | Uncertain significance (Dec 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63968134
- GRCh38:
- Chr3:63982458
| ATXN7 | | not specified, not provided | Benign/Likely benign | no assertion criteria provided |
| - GRCh37:
- Chr3:63973801
- GRCh38:
- Chr3:63988125
| ATXN7 | E388K, E243K | Inborn genetic diseases | Uncertain significance (Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63973859
- GRCh38:
- Chr3:63988183
| ATXN7 | P407R, P262R | Inborn genetic diseases | Uncertain significance (May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63973927
- GRCh38:
- Chr3:63988251
| ATXN7 | H285Y, H430Y | Inborn genetic diseases | Uncertain significance (Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63973987
- GRCh38:
- Chr3:63988311
| ATXN7 | P305S, P450S | Inborn genetic diseases | Uncertain significance (Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63975919
- GRCh38:
- Chr3:63990243
| ATXN7 | P332S, P477S | Inborn genetic diseases | Uncertain significance (May 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63976030
- GRCh38:
- Chr3:63990354
| ATXN7 | H514Y, H369Y | Inborn genetic diseases | Uncertain significance (Nov 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63976447
- GRCh38:
- Chr3:63990771
| ATXN7 | G532S, G387S | Spinocerebellar ataxia 7 | Uncertain significance (Apr 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63976466
- GRCh38:
- Chr3:63990790
| ATXN7 | S393C, S538C | Inborn genetic diseases | Uncertain significance (Dec 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63976491
- GRCh38:
- Chr3:63990815
| ATXN7 | | not provided | Uncertain significance (Apr 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63981335
- GRCh38:
- Chr3:63995659
| ATXN7 | P468A, P613A | Inborn genetic diseases | Uncertain significance (Jul 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63981383
- GRCh38:
- Chr3:63995707
| ATXN7 | P484S, P629S | Inborn genetic diseases | Uncertain significance (Dec 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63981473
- GRCh38:
- Chr3:63995797
| ATXN7 | L514F, L659F | Inborn genetic diseases | Uncertain significance (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63981582
- GRCh38:
- Chr3:63995906
| ATXN7 | A695V, A550V | Inborn genetic diseases | Uncertain significance (Jan 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63981617
- GRCh38:
- Chr3:63995941
| ATXN7 | R562S, R707S | Tip-toe gait | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr3:63981618
- GRCh38:
- Chr3:63995942
| ATXN7 | R562H, R707H | Spinocerebellar ataxia 7 | Uncertain significance (May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63981635
- GRCh38:
- Chr3:63995959
| ATXN7 | | not specified | Likely benign | no assertion criteria provided |
| - GRCh37:
- Chr3:63981651
- GRCh38:
- Chr3:63995975
| ATXN7 | S573C, S718C | Inborn genetic diseases | Uncertain significance (Dec 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63981668
- GRCh38:
- Chr3:63995992
| ATXN7 | S579T, S724T | not provided | Likely benign | no assertion criteria provided |
| - GRCh37:
- Chr3:63981676
- GRCh38:
- Chr3:63996000
| ATXN7 | | not specified | Likely benign | no assertion criteria provided |
| - GRCh37:
- Chr3:63981741-63981742
- GRCh38:
- Chr3:63996065-63996066
| ATXN7 | T604fs, T749fs | not provided | Uncertain significance (Dec 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63981744
- GRCh38:
- Chr3:63996068
| ATXN7 | T749M, T604M | Inborn genetic diseases | Uncertain significance (Sep 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63981753
- GRCh38:
- Chr3:63996077
| ATXN7 | S607C, S752C | Inborn genetic diseases | Uncertain significance (May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63981836
- GRCh38:
- Chr3:63996160
| ATXN7 | P635S, P780S | Inborn genetic diseases | Uncertain significance (Nov 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63981933
- GRCh38:
- Chr3:63996257
| ATXN7 | N812T, N667T | Inborn genetic diseases | Uncertain significance (Dec 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63981941
- GRCh38:
- Chr3:63996265
| ATXN7 | P670S, P815S | Inborn genetic diseases | Uncertain significance (Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63981977
- GRCh38:
- Chr3:63996301
| ATXN7 | T682A, T827A | not provided | Likely benign | no assertion criteria provided |
| - GRCh37:
- Chr3:63981995
- GRCh38:
- Chr3:63996319
| ATXN7 | I833V, I688V | Inborn genetic diseases | Uncertain significance (Aug 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63982026
- GRCh38:
- Chr3:63996350
| ATXN7 | S698L, S843L | Inborn genetic diseases | Uncertain significance (Feb 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63982082
- GRCh38:
- Chr3:63996406
| ATXN7 | V862M, V717M | not specified | Likely benign | no assertion criteria provided |
| - GRCh37:
- Chr3:63982151-63982153
- GRCh38:
- Chr3:63996475-63996477
| ATXN7 | L740del, L885del | Spinocerebellar ataxia 7 | Benign (Nov 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63985157
- GRCh38:
- Chr3:63999481
| ATXN7 | S920R | not specified | Likely benign (Jun 26, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:63985174
- GRCh38:
- Chr3:63999498
| ATXN7 | A926V | not provided | Uncertain significance (Jun 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:59332508-70686155
| ADAMTS9, ARL6IP5, ATXN7, C3orf14, CADPS, EOGT, FEZF2, FHIT, FRMD4B, KBTBD8, LMOD3, LRIG1, MAGI1, MITF, NPCDR1, PRICKLE2, PSMD6, PTPRG, SNTN, SUCLG2, SYNPR, TAFA1, TAFA4, THOC7, TMF1, UBA3 | | not provided | Pathogenic (Mar 1, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr3:62206958-63944889
| C3orf14, ATXN7, FEZF2, PTPRG, SNTN, THOC7, SYNPR, CADPS | | not provided | Uncertain significance (Jul 20, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr3:60449667-65561638
| SYNPR, ATXN7, PSMD6, MAGI1, FEZF2, PRICKLE2, C3orf14, CADPS, PTPRG, THOC7, ADAMTS9, SNTN, FHIT | | not provided | Pathogenic (Apr 5, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr3:57076136-65716956
| ABHD6, ACOX2, ADAMTS9, APPL1, ARF4, ARHGEF3, ASB14, ATXN7, C3orf14, CADPS, CFAP20DC, DENND6A, DNAH12, DNASE1L3, FAM107A, FAM3D, FEZF2, FHIT, FLNB, HESX1, IL17RD, KCTD6, MAGI1, NPCDR1, PDE12, PDHB, PRICKLE2, PSMD6, PTPRG, PXK, RPP14, SLMAP, SNTN, SPATA12, SYNPR, THOC7 | | not provided | Pathogenic (Nov 21, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr3:60844727-63983596
| ATXN7, C3orf14, FEZF2, CADPS, FHIT, PTPRG, SNTN, SYNPR, THOC7 | | not provided | Uncertain significance (Sep 6, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr3:61495-197838262
| ABHD10, POLR2H, TMEM108, PLS1, PPM1L, GHSR, RBM5, CCDC12, AMT, WDR82, TMEM43, LARS2, OSBPL11, HHLA2, MYH15, INKA1, CD200R1, C3orf22, NBEAL2, UBE2E1, NMNAT3, USP13, LSAMP, CPN2, CCDC14, PBRM1, ALG3, CCDC50, OPA1, SEC13, MIR570, TGFBR2, ATR, CAPN7, B3GALNT1, CMTM6, OR5K2, WDR53, SNORA63, PPARG, RETNLB, CPNE4, FOXP1-IT1, SCN11A, NCBP2, LZTFL1, TMEM44, RARRES1, PTX3, SNORA81, KAT2B, GOLGA4, MRAS, AP2M1, CDHR4, TIGIT, ZDHHC3, EPHB3, CFAP44, CEP97, PP2D1, PTH1R, GHRLOS, UBA5, MKRN2, NR1I2, SLC22A13, ALCAM, SLC35G2, RBP2, SEC22A, NEK11, SHOX2, TMEM212, TSEN2, NDUFAF3, SLC25A20, MB21D2, PRR23C, ASB14, VPS8, SATB1, RTP4, CNTN3, ACOX2, TOPAZ1, CAMKV, BCL6, ACAA1, ARF4, CACNA1D, ZNF501, GABRR3, LEKR1, DYNC1LI1, ENTPD3, IQCJ, NDUFB4, DHX36, KLHL40, SPSB4, GNL3, NFKBIZ, TXNRD3, GMNC, PTPRG, FBXO40, CIDEC, IQSEC1, ZNF197, KCTD6, PCCB, PCBP4, LRRFIP2, ARL14, LRRC2, DNAH12, IGSF11, SELENOT, USP19, RAB43, OR5K4, DENND6A, TNFSF10, PRSS50, C3orf14, NEK10, DYNLT2B, ANO10, ITGA9, RTP1, CLEC3B, U2SURP, PRR23B, ECE2, GPR15, ROBO2, IQCF6, FGD5, TOPBP1, CELSR3, H1-10, FAM131A, KALRN, IQCF3, H1-8, SLC12A8, DTX3L, ZCWPW2, NLGN1, TIMMDC1, SETD2, FILIP1L, OR5K3, SEMA3B, PRICKLE2, FBLN2, IQCF5, SLC51A, COLQ, VGLL4, GPR149, STAB1, CTNNB1, IL1RAP, FOXL2NB, ZPLD1, AGTR1, ST6GAL1, TIMP4, LRRC15, PDCD10, ZBED2, ERC2, HTR3E, BHLHE40, POU1F1, BFSP2, NPRL2, MLH1, SRGAP3, CHST13, AMIGO3, P2RY12, CSRNP1, TMA7, UBXN7, TMEM89, ARPC4-TTLL3, CAND2, CLRN1, PLCH1, SPTSSB, MITF, MUC4, FRG2C, FAIM, TMPRSS7, HACD2, ESYT3, DNAH1, RPL39L, SERP1, VEPH1, TRAT1, CRBN, GYG1, SHQ1, ABHD14A, ATP2B2, CRYGS, CSTA, CCR3, BBX, COX17, TMF1, ABTB1, MAGI1, GMPS, CDCP1, ILDR1, RABL3, IQCF1, PEX5L, ROPN1, DPH3, ADGRG7, VWA5B2, PYDC2, ZNF445, SETD5, OR5K1, TMEM42, SMCO1, CADM2, HTR3D, ATXN7, ZNF852, PLXNA1, OXSR1, KLHL24, CLDN18, CD200, GATA2, CNOT10, HEG1, XYLB, EOMES, SCN10A, ZNF660, DBR1, ADIPOQ, ATP1B3, ZNF619, USF3, CD47, FAM3D, GNAI2, P4HTM, THOC7, EHHADH, TMEM40, CMSS1, SPICE1, ANKUB1, PSMD6, IGF2BP2, ARPC4, SRPRB, WDR49, IL17RB, DLEC1, IFRD2, TMEM45A, DHX30, IFT80, CCK, MASP1, CHCHD4, TOMM70, PRKCD, OSBPL10, TRANK1, GPR160, IL5RA, LRTM1, SPCS1, OR5H15, TMEM115, PCOLCE2, OSTN, GUCA1C, OR5AC2, DNAJC19, RPL14, ZNF80, SLC41A3, GPR171, HES1, C3orf80, CFAP20DC, DHFR2, UBA7, ZNF621, CAMP, CCDC174, SSUH2, XIRP1, SAMD7, PPM1M, KCNMB3, POC1A, MANF, CLCN2, CD86, IQCJ-SCHIP1, FANCD2OS, CHMP2B, FOXP1, MCF2L2, EPHB1, TRA2B, ZDHHC19, TMEM158, SLC35A5, RNF123, FGF12, CDV3, BDH1, ATP13A5, ESRG, GRM2, DZIP3, PIK3CA, GLT8D1, CAMK1, SYNPR, TERC, RBM6, EPHA6, RAB6B, SH3BP5, ZNF35, HLTF, BRK1, WNT5A, SLC6A6, UQCC5, GPD1L, TWF2, ALAS1, TRAK1, MIR191, TBC1D23, OXNAD1, SS18L2, CP, ATP6V1A, SPATA12, SLC25A36, GPR27, PFN2, ARL13B, PXK, MRPS22, NXPE3, ACKR4, GBE1, ITIH3, CHL1, KLHDC8B, EPM2AIP1, EFHB, STX19, TTC14, RTP2, CBLB, NECTIN3-AS1, RPUSD3, KRBOX1, CASR, TTLL3, ACY1, XPC, RPL29, JAGN1, CRELD1, KLF15, SLMAP, ACP3, USP4, POPDC2, RYK, CLDND1, TMPPE, TRIM71, SENP7, ANAPC13, RFC4, HTR3C, KLHL18, ATG3, SMARCC1, HEMK1, CHST2, MIR1224, NAA50, RFTN1, ABCF3, GASK1A, TFRC, CD80, IL17RC, TMEM41A, GLYCTK, CFAP91, PARP9, GRK7, GRIP2, HCLS1, CTDSPL, TPRA1, RHOA, COL6A6, GMPPB, TKT, PIK3CB, MELTF, FYTTD1, ADAMTS9, RBMS3, PLCXD2, GAP43, OXSM, ATG7, CCDC191, ROBO1, SLC9C1, MIX23, FOXL2, CRTAP, SLC6A20, SELENOK, ZBTB11, ITIH4, UROC1, CMTM7, ETV5, LNP1, DCUN1D1, EIF4A2, SEMA5B, PRKCI, MBNL1, MAP4, LSMEM2, FHIT, NISCH, CLASP2, EXOSC7, EIF4G1, NGLY1, RPN1, RAP2B, CACNA2D3, ACAD9, AMOTL2, HACL1, ITPR1, EPHA3, RPL24, CCNL1, C3orf84, CEP63, RARB, MIR138-1, ARIH2, ABHD14B, CNTN4, GPX1, EMC3, KIF9, ZDHHC23, TNNC1, PAQR9, COL6A5, TASOR, GFM1, RPP14, ZKSCAN7, OR5H6, ZNF385D, P2RY14, LRRC31, COL8A1, PAK2, KPNA4, FGD5-AS1, DAG1, NKTR, BCHE, ACTRT3, EDEM1, C3orf18, CCDC66, LINC00312, DNAJC13, SUMF1, SACM1L, CAV3, P2RY13, PCYT1A, P3H2, SERPINI1, SKIL, MON1A, NMD3, SLC4A7, PXYLP1, MINDY4B, TM4SF4, NCEH1, GSK3B, ASTE1, SST, CCR9, THPO, CIP2A, QARS1, PPP2R3A, STT3B, RPSA, TRNT1, NME6, SLC2A2, EGOT, SLC25A38, ARL8B, SEMA3G, QTRT2, CRYBG3, TAFA1, MST1R, SLC6A11, EBLN2, EFCC1, IMPG2, SENP2, SYN2, KCNMB2, MIR26A1, HMCES, XCR1, RRP9, DPPA2, HSPBAP1, LIPH, DRD3, MFSD1, DCLK3, TCAIM, CHDH, PRRT3, FYCO1, CYB561D2, DAZL, PLSCR2, SNORA62, GORASP1, CGGBP1, SEMA3F-AS1, LYZL4, RPL35A, CDC25A, CMC1, LRRN1, TRPC1, KCNH8, KRBOX1-AS1, C3orf62, SCAP, TBL1XR1, ZNF662, NSUN3, MYD88, TF, RYBP, DVL3, HGD, XXYLT1, LAMP3, CNBP, SSR3, TNK2, C3orf20, MIRLET7G, ZBTB38, IGSF11-AS1, SUCNR1, CFAP100, MIR28, WDR6, TIPARP, C3orf33, UTS2B, ARL6, BSN, FAM162A, NT5DC2, IQCG, ZBTB20, P2RY1, PHC3, KIF15, ABI3BP, STAC, SOX2, ALS2CL, LPP, CHRD, DCP1A, PLSCR5, TRIM59, BAP1, EIF2A, EOGT, ABHD5, GALNT15, VGLL3, SHISA5, DALRD3, GOLGB1, GLB1, ZBTB47, FXR1, COPG1, NME9, SI, RSRC1, TM4SF19, CEP70, IQCF2, BOC, HRG, CPNE9, PTPN23, MTMR14, LSG1, TRIM42, PDCD6IP, ACAP2, SNTN, IL17RE, LRRC58, TSC22D2, OR5H1, RPL22L1, EFCAB12, ACAD11, IMPDH2, PHF7, NAA80, HTR1F, TMEM39A, UPK1B, FNDC3B, EAF2, ISY1-RAB43, GTPBP8, ZNF639, ADCY5, NPHP3, DIPK2A, OGG1, PROK2, KBTBD8, NR1D2, LINC01565, CPB1, ACVR2B, ZMYND10, SUCLG2, DCAF1, TUSC2, THUMPD3, TOP2B, PLSCR4, CCR5, DOCK3, FAM107A, SLC6A1, ST3GAL6, KLHL6, KCNAB1, DUSP7, SPATA16, TBCCD1, EIF2B5, IFT122, RPL32, CCDC71, IQCB1, ACTL6A, GPR156, ANKRD28, NKIRAS1, SLC33A1, CCR8, PARL, SCN5A, CYP8B1, PLCD1, MYL3, CAMK2N2, UBE2E2, HYAL1, OXTR, ZXDC, TM4SF1, HYAL3, NDUFB5, LRIG1, UMPS, SCHIP1, HESX1, APEH, ZMAT3, APPL1, PPP1R2, MAP3K13, CPOX, OTOL1, CLDN1, LMOD3, UBP1, TMEM207, PDZRN3, SMC4, POGLUT1, KIAA1143, C3orf52, EIF4E3, SEMA3F, TRAIP, ARL6IP5, PSMD2, SNX4, KNG1, TRMT10C, EXOG, RBM15B, GCSAM, AZI2, CEP19, TFDP2, SERPINI2, TTC21A, PRKAR2A, ERICH6, ATRIP, CCDC51, NICN1, SEC61A1, PDIA5, ATP13A4, ZNF860, NRROS, ARPP21, WDR5B, CISH, RHO, C3orf38, HDAC11, EEFSEC, TDGF1, CD200R1L, MST1, ARHGAP31, AHSG, MOBP, DNASE1L3, ITGB5, VILL, PCNP, ARGFX, MUC20, LMLN, TREX1, RAB7A, STAG1, GRM7, MBD4, GHRL, FBXW12, ABHD6, LRRC3B, ACKR2, RAB5A, LRRIQ4, ISY1, SLCO2A1, DCBLD2, SENP5, STIMATE-MUSTN1, SNRK, PLSCR1, TNK2-AS1, KBTBD12, BTD, ZNF620, MED12L, PODXL2, FBXO45, TCTA, MRPL47, WWTR1, CCDC39, SLC26A6, LTF, COMMD2, SIAH2, CHCHD6, FAM43A, MORC1-AS1, MYNN, RAD54L2, RASA2, SPINK8, NCK1, MSL2, HHATL, ZNF717, COPB2, NCKIPSD, MRPL3, VHL, PLCL2, SOX2-OT, NAALADL2, FETUB, PLXND1, PLAAT1, UBA3, RAD18, TAMM41, METTL6, ECT2, THRB, RBP1, NEPRO, DNAJB8, NIT2, ALDH1L1, CX3CR1, SFMBT1, MLF1, PRR23A, WDR48, ZNF589, PIK3R4, GXYLT2, BTLA, OR5H14, RNF13, ACTR8, HIGD1A, ALG1L2, GNAT1, KY, CCRL2, CXCR6, SETMAR, STIMATE, PRR23E, RNF7, CFAP92, TM4SF18, PLA1A, RIOX2, DGKG, MYRIP, CMTM8, GK5, ZNF148, POLQ, SEC22C, CCR1, MAPKAPK3, POMGNT2, TP63, IP6K2, MORC1, SLC7A14, CPA3, CLDN11, MCCC1, PROS1, B4GALT4, NUP210, CSPG5, ABCC5, ITIH1, ZNF654, GRAMD1C, FSTL1, ELP6, TEX264, TMCC1, PFKFB4, PLXNB1, RFT1, RTP3, CCDC54, RUVBL1, KPNA1, IHO1, GPR62, FLNB, ZBBX, COL7A1, DZIP1L, ATP13A3, FEZF2, LIMD1, C3orf36, EIF1B, IFT57, PLOD2, MIR128-2, ARMC8, LRRC34, PIGX, CADPS, DLG1, PIGZ, CCR4, LRCH3, MME, LINC02877, VIPR1, XRN1, RBSN, TBC1D5, ADPRH, ATP11B, ARHGEF3, SLC49A4, ROPN1B, DPPA4, TADA3, PHLDB2, AADACL2, DNAJB11, RUBCN, GOLIM4, APOD, MCM2, FANCD2, RPL15, GP9, TMIE, YEATS2, PDE12, HYAL2, QRICH1, CLSTN2, RNF168, SLC9A9, AADAC, TFG, EAF1, MAGEF1, SLC22A14, RASSF1, SLC15A2, UQCRC1, MGLL, CNTN6, CLDN16, FRMD4B, APRG1, STXBP5L, IL20RB, C3orf70, PLD1, TXNRD3NB, ZNF502, SIDT1, CD96, LHFPL4, RAF1, IP6K1, NECTIN3, TATDN2, ULK4, ZIC4, NEK4, ARIH2OS, PARP3, NUDT16, PARP14, GADL1, MUSTN1, NPCDR1, SOX14, MAP6D1, ATP2C1, TAGLN3, GNB4, PDHB, SUSD5, TEX55, FBXL2, LAMB2, CCDC13, MRPS25, HPS3, BRPF1, MECOM, GP5, LSM3, SGO1, WNT7A, UCN2, GTF2E1, TNIK, MYLK, GPR87, PPP4R2, HRH1, MUC13, TPRG1, MFN1, NR2C2, B3GNT5, SEC62, TGM4, LMCD1, IL12A, TAFA4, IGSF10, SLITRK3, ZIC1, CCR2, TRH, IL17RD, CCDC80, A4GNT, PARP15, ARHGEF26, OR5H2, LXN, SLC38A3, CACNA2D2, IRAK2, TLR9, EIF5A2 | | not provided | Pathogenic (Jan 5, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr3:60174-197948027
| GORASP1, CP, ATG3, GLT8D1, GK5, P2RY13, SERPINI2, MYLK, LAMB2, GHRLOS, CACNA2D2, DALRD3, EIF4G1, ITGB5, CRBN, RFTN1, IFT80, PAQR9, RPL29, ATP13A3, DIPK2A, OR5K2, TMEM44, IQCF3, IMPG2, SCAP, SNORA62, MYRIP, PPP1R2, GPD1L, MIR28, TGM4, TAFA1, SEC22C, ATP1B3, ABHD14A, MIX23, MIRLET7G, MUC4, PLXNA1, SPCS1, SS18L2, UBXN7, ESYT3, FGD5, IQCG, ACTRT3, CELSR3, IGSF11-AS1, DAZL, CMTM8, CCDC51, PROS1, SEMA3F-AS1, PSMD6, CSTA, GNAI2, GAP43, FBLN2, SENP2, HGD, SGO1, WDR53, VEPH1, CRYGS, IQSEC1, COL6A5, C3orf84, TM4SF4, ADCY5, PFKFB4, TMCC1, DCAF1, TADA3, ELP6, EPM2AIP1, PDHB, RPL32, SLMAP, ITIH3, COPG1, RAF1, BRPF1, CCR8, TBL1XR1, SLC9A9, DPPA2, ZMAT3, ISY1, ADGRG7, SUSD5, TEX264, EIF1B, FGD5-AS1, CAMKV, ASB14, MYL3, ATP13A4, CLASP2, EHHADH, ZNF662, ARHGAP31, FBXO45, RBM5, HSPBAP1, LINC00312, RPSA, MGLL, POLQ, ALCAM, FSTL1, SETD2, EXOSC7, THOC7, GPR62, CD200, ANKRD28, NEPRO, VWA5B2, FOXL2, IQCF6, OXNAD1, PPM1M, HYAL3, CDC25A, OR5AC2, ATP2C1, SMARCC1, CD96, COL8A1, XRN1, GASK1A, GPR156, P2RY1, AADACL2, ITGA9, SOX14, C3orf20, RPUSD3, CHDH, FAM107A, TIGIT, ALG1L2, ALS2CL, TATDN2, CCRL2, HRH1, DGKG, ARL14, SHISA5, KLHL18, FANCD2OS, EFCC1, ARPP21, CAMK1, ABCF3, LRIG1, YEATS2, HPS3, BRK1, TEX55, KCNH8, ACAD9, GBE1, POPDC2, LRRC34, PIGX, MASP1, KRBOX1-AS1, NPRL2, IL17RB, COL6A6, XXYLT1, POU1F1, METTL6, RNF13, HACL1, NR1D2, ZNF148, XCR1, TBC1D23, SLC6A20, ACAA1, CLDND1, PPM1L, NAA50, TMIE, A4GNT, NISCH, CTDSPL, TMEM108, GPR27, RPL35A, KPNA1, LTF, TBCCD1, CBLB, FILIP1L, HTR1F, RNF7, BAP1, RPL15, HMCES, PYDC2, LRTM1, TXNRD3NB, WDR5B, FLNB, ARL13B, ST3GAL6, APEH, PLSCR5, WDR48, SPATA12, NEK4, SH3BP5, CPA3, HEMK1, RABL3, STIMATE, PLCL2, DCBLD2, SERPINI1, PIK3CB, TPRA1, PHLDB2, TMEM43, UBA3, DVL3, BSN, CNTN3, PLSCR4, PTPRG, CD86, CACNA1D, CCR3, EFHB, THRB, MYH15, PRSS50, DZIP3, TREX1, LRRC3B, EOMES, H1-10, ZNF35, PARP14, CAMP, COL7A1, GALNT15, GTPBP8, CEP70, SLC15A2, DHX30, KIF9, HESX1, EOGT, RAD54L2, PTPN23, WNT5A, CCR5, MBD4, MKRN2, IMPDH2, LINC01565, KALRN, CHL1, CFAP92, OR5K1, ZIC1, ZNF660, PDCD6IP, GPR149, ZBBX, OR5K4, SI, UBA7, NT5DC2, AZI2, ZXDC, OSTN, RBM15B, KCNMB3, TCAIM, NPCDR1, ZBED2, LEKR1, MME, TTLL3, RPP14, HES1, AMIGO3, MFN1, PPARG, VHL, OR5H14, SNRK, EIF4A2, CPOX, ECE2, MAPKAPK3, SOX2, CPNE4, DZIP1L, TIMMDC1, STAC, CCDC66, PDIA5, MON1A, USF3, NUDT16, SRGAP3, ZCWPW2, PIK3R4, MRPS25, ZNF197, IQCF2, SLC38A3, MFSD1, PHF7, XPC, PLS1, MYD88, RARRES1, EBLN2, RARB, GPR15, ALAS1, TIMP4, WNT7A, GOLGB1, ATP11B, COX17, POMGNT2, MLH1, TRAIP, IGSF10, RBM6, GFM1, FNDC3B, DNAJB8, ABTB1, PLXNB1, CLDN18, SATB1, RBMS3, GLB1, IRAK2, ARMC8, LIPH, SLCO2A1, VGLL3, QARS1, ABI3BP, OSBPL11, CNTN6, DAG1, NDUFB4, ROBO1, KCNMB2, CMC1, GMNC, ARIH2OS, NEK10, ECT2, CRTAP, USP13, ADIPOQ, NECTIN3, RUVBL1, HYAL1, MLF1, DNAH1, CD80, NICN1, NCK1, IP6K1, CD200R1L, PCOLCE2, AMOTL2, PAK2, POC1A, TTC14, DNAJB11, DHFR2, SPATA16, P3H2, ATP2B2, LPP, SELENOT, SHOX2, SENP5, ERICH6, TSC22D2, SUCNR1, CCDC80, ERC2, AMT, TOPBP1, CADM2, RNF168, MIR570, NKIRAS1, FBXW12, GMPS, HACD2, C3orf80, OXSR1, ACAP2, GHSR, KLHL6, GRM7, TOP2B, CDV3, SEMA3G, PDCD10, CYB561D2, ACTR8, APPL1, OR5H6, DCP1A, APRG1, ARL6IP5, MCCC1, CCDC54, SLC49A4, OXTR, ENTPD3, ARGFX, MIR128-2, CCK, MORC1-AS1, DLG1, TSEN2, PCCB, GNL3, CLDN1, HCLS1, TNIK, ISY1-RAB43, FRG2C, EIF2A, TM4SF18, MUC13, ZNF860, VIPR1, FAM3D, PEX5L, IHO1, LINC02877, GYG1, MAP3K13, RTP3, LNP1, DYNLT2B, LZTFL1, TTC21A, SNORA63, STIMATE-MUSTN1, MAGI1, SEC13, TDGF1, PARL, SERP1, TF, NMD3, AHSG, MAP6D1, SEC22A, ATP13A5, IL17RD, PDE12, GPR87, DPPA4, NME9, GNAT1, BHLHE40, RPL39L, ADAMTS9, MELTF, ZNF80, CADPS, SLC4A7, PRR23A, CHST13, PLA1A, CXCR6, UCN2, BBX, RFC4, FOXP1-IT1, ROPN1, TMEM39A, PRRT3, NSUN3, ZKSCAN7, CASR, SUMF1, SCN11A, DPH3, PODXL2, ZBTB20, MTMR14, ACY1, GCSAM, FEZF2, NBEAL2, IL20RB, LAMP3, DNAH12, RASA2, SLC25A20, ZNF501, GPX1, PLCH1, SETMAR, OXSM, ZDHHC3, RAD18, FETUB, SAMD7, FRMD4B, AGTR1, ADPRH, GABRR3, MRPL3, HRG, ZNF717, DRD3, RBP2, SLC9C1, TFRC, CPNE9, MUC20, DUSP7, TNK2, TRIM71, TBC1D5, CAMK2N2, UBP1, DYNC1LI1, SLC12A8, PIK3CA, CCDC14, AADAC, GSK3B, ROBO2, TNNC1, RHO, EIF5A2, PTX3, RIOX2, ANAPC13, PXK, NR1I2, SLC22A13, EAF2, ZPLD1, SPINK8, UROC1, XYLB, MST1, TAGLN3, DNASE1L3, FYTTD1, FXR1, SHQ1, CHCHD6, WDR6, P4HTM, C3orf22, DOCK3, NFKBIZ, TASOR, ZNF502, SLC25A36, P2RY14, TLR9, ITIH4, KLHDC8B, KNG1, ULK4, ACP3, ZBTB38, GXYLT2, THUMPD3, FAM162A, IFRD2, PDZRN3, ACVR2B, PRR23B, RFT1, SEMA3B, FBXO40, TMEM89, GADL1, NUP210, SEMA3F, GATA2, SLC41A3, NMNAT3, GRK7, STX19, CX3CR1, COLQ, LRRC2, SETD5, PIGZ, CD200R1, CPN2, CDHR4, DNAJC13, MYNN, RAP2B, GNB4, ZNF445, RTP4, CNBP, MIR26A1, KCNAB1, NCKIPSD, RUBCN, TOPAZ1, KIAA1143, C3orf36, UQCC5, SIAH2, CACNA2D3, FAIM, U2SURP, ARHGEF26, SLC6A1, SLC35G2, MITF, B3GALNT1, LSAMP, SEC62, ARPC4, SYN2, UBE2E1, MST1R, TRIM59, RPN1, CHST2, GHRL, EFCAB12, HDAC11, MSL2, CCDC191, NAALADL2, ROPN1B, LHFPL4, MRPL47, POGLUT1, CCDC50, ITPR1, MBNL1, CRELD1, MAP4, SLC6A11, EIF2B5, PRKAR2A, RASSF1, PLOD2, SST, SMCO1, CLRN1, PLD1, CCDC39, ZBTB11, IQCB1, FYCO1, TP63, BTLA, CCDC174, MECOM, RPL22L1, IGF2BP2, KBTBD12, HHLA2, SSUH2, SEC61A1, SLC25A38, LARS2, SCN5A, SYNPR, LIMD1, CCNL1, CTNNB1, CPB1, FBXL2, ZNF639, TRIM42, KIF15, RAB43, PPP4R2, OR5H1, SLC33A1, SNTN, VILL, PFN2, ZDHHC23, ZNF620, VGLL4, C3orf14, CEP19, KRBOX1, ATP6V1A, EGOT, PROK2, CMTM7, CISH, SEMA5B, PRICKLE2, GRIP2, CLDN11, NPHP3, C3orf33, IL12A, EXOG, PBRM1, ETV5, SNORA81, RTP2, TMEM45A, TMPRSS7, CGGBP1, CMSS1, RBSN, BCHE, PLCXD2, WDR82, ITIH1, NCEH1, ZNF852, ARIH2, MORC1, OR5H2, KLHL24, SENP7, TOMM70, CCDC13, PRKCI, OR5K3, NKTR, EPHA6, TRH, FOXP1, SLC51A, MIR138-1, ACKR4, MINDY4B, CCR1, NAA80, ARF4, LRRC58, TRAK1, IGSF11, SLC26A6, TMEM207, ANKUB1, TKT, EAF1, LRRC31, CAPN7, HYAL2, RETNLB, LMOD3, TM4SF19, RAB7A, ACOX2, SPICE1, NEK11, UBE2E2, NCBP2, NECTIN3-AS1, FAM43A, CSRNP1, UTS2B, TFDP2, MIR1224, ABHD14B, CCR9, TMEM158, SPTSSB, CFAP20DC, EMC3, C3orf62, KCTD6, PARP9, PLSCR2, CD47, SIDT1, BCL6, EIF4E3, GOLIM4, TAMM41, LRRC15, ABHD10, OR5H15, TXNRD3, RTP1, GRM2, IQCJ, ZNF619, BDH1, ESRG, TRMT10C, RAB6B, TMF1, C3orf38, ACTL6A, RBP1, GPR160, NXPE3, ATR, DLEC1, IL17RC, COMMD2, EPHB1, NGLY1, LRRN1, CRYBG3, TRNT1, LXN, SOX2-OT, UQCRC1, TNFSF10, CHRD, EEFSEC, FAM157A, OTOL1, LSM3, B4GALT4, ABHD5, SUCLG2, TMEM42, NDUFB5, B3GNT5, CCDC71, APOD, CCDC12, MUSTN1, SMC4, ZDHHC19, THPO, STAG1, IFT122, ARL8B, CNOT10, CHCHD4, ZNF589, LMLN, POLR2H, CFAP91, CCR2, ZNF654, ARL6, TIPARP, PLXND1, RYBP, SLC22A14, CAND2, GOLGA4, COPB2, PCYT1A, RPL14, CMTM6, EDEM1, BFSP2, TGFBR2, MB21D2, SELENOK, IQCF1, KPNA4, ST6GAL1, IP6K2, TCTA, SLC7A14, JAGN1, HTR3E, IL1RAP, PXYLP1, ATRIP, CFAP44, CSPG5, TWF2, IFT57, PCNP, QRICH1, SSR3, PHC3, VPS8, TERC, STT3B, MCF2L2, PRR23C, CDCP1, ALG3, ZNF621, AP2M1, EPHB3, GLYCTK, TRAT1, KLF15, FAM131A, OSBPL10, TAFA4, SACM1L, ATXN7, GTF2E1, SCN10A, TUSC2, KAT2B, NME6, TMEM212, DNAJC19, ZMYND10, ABCC5, GMPPB, RRP9, TPRG1, USP4, SLC2A2, CLSTN2, NRROS, SNX4, TMEM115, STXBP5L, TNK2-AS1, SLC6A6, STAB1, KY, ACKR2, CCR4, DHX36, ASTE1, KLHL40, HEG1, P2RY12, UMPS, PSMD2, CAV3, TM4SF1, NLGN1, XIRP1, ILDR1, FHIT, EPHA3, C3orf18, GRAMD1C, ARHGEF3, PARP15, RHOA, ZBTB47, SRPRB, ZNF385D, DTX3L, TRA2B, DENND6A, PPP2R3A, UBA5, PRKCD, MAGEF1, RPL24, DCLK3, PARP3, SFMBT1, SKIL, HLTF, ATG7, WWTR1, OPA1, PLCD1, FGF12, TRPC1, QTRT2, CLDN16, CFAP100, GP5, LSMEM2, NIT2, TMEM40, H1-8, ANO10, CHMP2B, WDR49, ALDH1L1, GPR171, MRAS, BOC, LRCH3, CLCN2, MOBP, FANCD2, RNF123, INKA1, IL5RA, IQCJ-SCHIP1, FOXL2NB, PLAAT1, DBR1, OGG1, CIP2A, HHATL, LMCD1, TMA7, HTR3D, CLEC3B, PLSCR1, UPK1B, PRR23E, MRPS22, SLITRK3, RYK, C3orf70, HIGD1A, NDUFAF3, RAB5A, TFG, PCBP4, ACAD11, LYZL4, MANF, MIR191, ARPC4-TTLL3, PP2D1, ZIC4, IQCF5, RSRC1, MED12L, USP19, SCHIP1, MCM2, DCUN1D1, CYP8B1, TMPPE, CIDEC, GP9, BTD, LRRFIP2, HTR3C, TRANK1, GUCA1C, ABHD6, SLC35A5, PTH1R, C3orf52, LRRIQ4, TMEM41A, LSG1, SPSB4, IL17RE, KBTBD8, NR2C2, CEP63, CEP97, CNTN4 | | not provided | Pathogenic (Jan 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr3:61892-197851986
| C3orf36, C3orf38, C3orf52, C3orf62, C3orf70, C3orf80, C3orf84, CACNA1D, CACNA2D2, CACNA2D3, CADM2, CADPS, CAMK1, CAMK2N2, CAMKV, CAMP, CAND2, CAPN7, CASR, CAV3, CBLB, CCDC12, CCDC13, CCDC14, CCDC174, CCDC191, CCDC39, CCDC50, CCDC51, CCDC54, CCDC66, CCDC71, CCDC80, CCK, CCNL1, CCR1, CCR2, CCR3, CCR4, CCR5, CCR8, CCR9, CCRL2, CD200, CD200R1, CD200R1L, CD47, CD80, CD86, CD96, CDC25A, CDCP1, CDHR4, CDV3, CELSR3, CEP19, CEP63, CEP70, CEP97, CFAP100, CFAP20DC, CFAP44, CFAP91, CFAP92, CGGBP1, CHCHD4, CHCHD6, CHDH, CHL1, CHMP2B, CHRD, CHST13, CHST2, CIDEC, CIP2A, CISH, CLASP2, CLCN2, CLDN1, CLDN11, CLDN16, CLDN18, CLDND1, CLEC3B, CLRN1, CLSTN2, CMC1, CMSS1, CMTM6, CMTM7, CMTM8, CNBP, CNOT10, CNTN3, CNTN4, CNTN6, COL6A5, COL6A6, COL7A1, COL8A1, COLQ, COMMD2, COPB2, COPG1, COX17, CP, CPA3, CPB1, CPN2, CPNE4, CPNE9, CPOX, CRBN, CRELD1, CRTAP, CRYBG3, CRYGS, CSPG5, CSRNP1, CSTA, CTDSPL, CTNNB1, CX3CR1, CXCR6, CYB561D2, CYP8B1, DAG1, DALRD3, DAZL, DBR1, DCAF1, DCBLD2, DCLK3, DCP1A, DCUN1D1, DENND6A, DGKG, DHFR2, DHX30, DHX36, DIPK2A, DLEC1, DLG1, DNAH1, DNAH12, DNAJB11, DNAJB8, DNAJC13, DNAJC19, DNASE1L3, DOCK3, DPH3, DPPA2, DPPA4, DRD3, DTX3L, DUSP7, DVL3, DYNC1LI1, DYNLT2B, DZIP1L, DZIP3, EAF1, EAF2, EBLN2, ECE2, ECT2, EDEM1, EEFSEC, EFCAB12, EFCC1, EFHB, EGOT, EHHADH, EIF1B, EIF2A, EIF2B5, EIF4A2, EIF4E3, EIF4G1, EIF5A2, ELP6, EMC3, ENTPD3, EOGT, EOMES, EPHA3, EPHA6, EPHB1, EPHB3, EPM2AIP1, ERC2, ERICH6, ESRG, ESYT3, ETV5, EXOG, EXOSC7, FAIM, FAM107A, FAM131A, FAM162A, FAM3D, FAM43A, FANCD2, FANCD2OS, FBLN2, FBXL2, FBXO40, FBXO45, FBXW12, FETUB, FEZF2, FGD5, FGD5-AS1, FGF12, FHIT, FILIP1L, FLNB, FNDC3B, FOXL2, FOXL2NB, FOXP1, FOXP1-IT1, FRG2C, FRMD4B, FSTL1, FXR1, FYCO1, FYTTD1, GABRR3, GADL1, GALNT15, GAP43, GASK1A, GATA2, GBE1, GCSAM, GFM1, GHRL, GHRLOS, GHSR, GK5, GLB1, GLT8D1, GLYCTK, GMNC, GMPPB, GMPS, GNAI2, GNAT1, GNB4, GNL3, GOLGA4, GOLGB1, GOLIM4, GORASP1, GP5, GP9, GPD1L, GPR149, GPR15, GPR156, GPR160, GPR171, GPR27, GPR62, GPR87, GPX1, GRAMD1C, GRIP2, GRK7, GRM2, GRM7, GSK3B, GTF2E1, GTPBP8, GUCA1C, GXYLT2, GYG1, H1-10, H1-8, HACD2, HACL1, HCLS1, HDAC11, HEG1, HEMK1, HES1, HESX1, HGD, HHATL, HHLA2, HIGD1A, HLTF, HMCES, HPS3, HRG, HRH1, HSPBAP1, HTR1F, HTR3C, HTR3D, HTR3E, HYAL1, HYAL2, HYAL3, IFRD2, IFT122, IFT57, IFT80, IGF2BP2, IGSF10, IGSF11, IGSF11-AS1, IHO1, IL12A, IL17RB, IL17RC, IL17RD, IL17RE, IL1RAP, IL20RB, IL5RA, ILDR1, IMPDH2, IMPG2, INKA1, IP6K1, IP6K2, IQCB1, IQCF1, IQCF2, IQCF3, IQCF5, IQCF6, IQCG, IQCJ, IQCJ-SCHIP1, IQSEC1, IRAK2, ISY1, ISY1-RAB43, ITGA9, ITGB5, ITIH1, ITIH3, ITIH4, ITPR1, JAGN1, KALRN, KAT2B, KBTBD12, KBTBD8, KCNAB1, KCNH8, KCNMB2, KCNMB3, KCTD6, KIAA1143, KIF15, KIF9, KLF15, KLHDC8B, KLHL18, KLHL24, KLHL40, KLHL6, KNG1, KPNA1, KPNA4, KRBOX1, KRBOX1-AS1, KY, LAMB2, LAMP3, LARS2, LEKR1, LHFPL4, LIMD1, LINC00312, LINC01565, LINC02877, LIPH, LMCD1, LMLN, LMOD3, LNP1, LPP, LRCH3, LRIG1, LRRC15, LRRC2, LRRC31, LRRC34, LRRC3B, LRRC58, LRRFIP2, LRRIQ4, LRRN1, LRTM1, LSAMP, LSG1, LSM3, LSMEM2, LTF, LXN, LYZL4, LZTFL1, MAGEF1, MAGI1, MANF, MAP3K13, MAP4, MAP6D1, MAPKAPK3, MASP1, MB21D2, MBD4, MBNL1, MCCC1, MCF2L2, MCM2, MECOM, MED12L, MELTF, METTL6, MFN1, MFSD1, MGLL, MINDY4B, MIR1224, MIR128-2, MIR138-1, MIR191, MIR26A1, MIR28, MLF1, MIR570, MIRLET7G, MITF, MIX23, MKRN2, MLH1, MME, MOBP, MON1A, MORC1, MORC1-AS1, MRAS, MRPL3, MRPL47, MRPS22, MRPS25, MSL2, MST1, MST1R, MTMR14, MUC13, MUC20, MUC4, MUSTN1, MYD88, MYH15, MYL3, MYLK, MYNN, MYRIP, NAA50, NAA80, NAALADL2, NBEAL2, NCBP2, NCEH1, NCK1, NCKIPSD, NDUFAF3, NDUFB4, NDUFB5, NECTIN3, NECTIN3-AS1, NEK10, NEK11, NEK4, NEPRO, NFKBIZ, NGLY1, NICN1, NISCH, NIT2, NKIRAS1, NKTR, NLGN1, NMD3, NME6, NME9, NMNAT3, NPCDR1, NPHP3, NPRL2, NR1D2, NR1I2, NR2C2, NRROS, NSUN3, NT5DC2, NUDT16, NUP210, NXPE3, OGG1, OPA1, OR5AC2, OR5H1, OR5H14, OR5H15, OR5H2, OR5H6, OR5K1, OR5K2, OR5K3, OR5K4, OSBPL10, OSBPL11, OSTN, OTOL1, OXNAD1, OXSM, OXSR1, OXTR, P2RY1, P2RY12, P2RY13, P2RY14, P3H2, P4HTM, PAK2, PAQR9, PARL, PARP14, PARP15, PARP3, PARP9, PBRM1, PCBP4, PCCB, PCNP, PCOLCE2, PCYT1A, PDCD10, PDCD6IP, PDE12, PDHB, PDIA5, PDZRN3, PEX5L, PFKFB4, PFN2, PHC3, PHF7, PHLDB2, PIGX, PIGZ, PIK3CA, PIK3CB, PIK3R4, PLA1A, PLAAT1, PLCD1, PLCH1, PLCL2, PLCXD2, PLD1, PLOD2, PLS1, PLSCR1, PLSCR2, PLSCR4, PLSCR5, PLXNA1, PLXNB1, PLXND1, POC1A, PODXL2, POGLUT1, POLQ, POLR2H, POMGNT2, POPDC2, POU1F1, PP2D1, PPARG, PPM1L, PPM1M, PPP1R2, PPP2R3A, PPP4R2, PRICKLE2, PRKAR2A, PRKCD, PRKCI, PROK2, PROS1, PRR23A, PRR23B, PRR23C, PRR23E, PRRT3, PRSS50, PSMD2, PSMD6, PTH1R, PTPN23, PTPRG, PTX3, PXK, PXYLP1, PYDC2, QARS1, QRICH1, QTRT2, RAB43, RAB5A, RAB6B, RAB7A, RABL3, RAD18, RAD54L2, RAF1, RAP2B, RARB, RARRES1, RASA2, RASSF1, RBM15B, RBM5, RBM6, RBMS3, RBP1, RBP2, RBSN, RETNLB, RFC4, RFT1, RFTN1, RHO, RHOA, RIOX2, RNF123, RNF13, RNF168, RNF7, ROBO1, ROBO2, ROPN1, ROPN1B, RPL14, RPL15, RPL22L1, RPL24, RPL29, RPL32, RPL35A, RPL39L, RPN1, RPP14, RPSA, RPUSD3, RRP9, RSRC1, RTP1, RTP2, RTP3, RTP4, RUBCN, RUVBL1, RYBP, RYK, SACM1L, SAMD7, SATB1, SCAP, SCHIP1, SCN10A, SCN11A, SCN5A, SEC13, SEC22A, SEC22C, SEC61A1, SEC62, SELENOK, SELENOT, SEMA3B, SEMA3F, SEMA3F-AS1, SEMA3G, SEMA5B, SENP2, SENP5, SENP7, SERP1, SERPINI1, SERPINI2, SETD2, SETD5, SETMAR, SFMBT1, SGO1, SH3BP5, SHISA5, SHOX2, SHQ1, SI, SIAH2, SIDT1, SKIL, SLC12A8, SLC15A2, SLC22A13, SLC22A14, SLC25A20, SLC25A36, SLC25A38, SLC26A6, SLC2A2, SLC33A1, SLC35A5, SLC35G2, SLC38A3, SLC41A3, SLC49A4, SLC4A7, SLC51A, SLC6A1, SLC6A11, SLC6A20, SLC6A6, SLC7A14, SLC9A9, SLC9C1, SLCO2A1, SLITRK3, SLMAP, SMARCC1, SMC4, SMCO1, SNORA62, SNORA63, SNORA81, SNRK, SNTN, SNX4, SOX14, SOX2, SOX2-OT, SPATA12, SPATA16, SPCS1, SPICE1, SPINK8, SPSB4, SPTSSB, SRGAP3, SRPRB, SS18L2, SSR3, SST, SSUH2, ST3GAL6, ST6GAL1, STAB1, STAC, STAG1, STIMATE, STIMATE-MUSTN1, STT3B, STX19, STXBP5L, SUCLG2, SUCNR1, SUMF1, SUSD5, SYN2, SYNPR, TADA3, TAFA1, TAFA4, TAGLN3, TAMM41, TASOR, TATDN2, TBC1D23, TBC1D5, TBCCD1, TBL1XR1, TCAIM, TCTA, TDGF1, TERC, TEX264, TEX55, TF, TFDP2, TFG, TFRC, TGFBR2, TGM4, THOC7, THPO, THRB, THUMPD3, TIGIT, TIMMDC1, TIMP4, TIPARP, TKT, TLR9, TM4SF1, TM4SF18, TM4SF19, TM4SF4, TMA7, TMCC1, TMEM108, TMEM115, TMEM158, TMEM207, TMEM212, TMEM39A, TMEM40, TMEM41A, TMEM42, TMEM43, TMEM44, TMEM45A, TMEM89, TMF1, TMIE, TMPPE, TMPRSS7, TNFSF10, TNIK, TNK2, TNK2-AS1, TNNC1, TOMM70, TOP2B, TOPAZ1, TOPBP1, TP63, TPRA1, TPRG1, TRA2B, TRAIP, TRAK1, TRANK1, TRAT1, TREX1, TRH, TRIM42, TRIM59, TRIM71, TRMT10C, TRNT1, TRPC1, TSC22D2, TSEN2, TTC14, TTC21A, TTLL3, TUSC2, TWF2, TXNRD3, TXNRD3NB, U2SURP, UBA3, UBA5, UBA7, UBE2E1, UBE2E2, UBP1, UBXN7, UCN2, ULK4, UMPS, UPK1B, UQCC5, UQCRC1, UROC1, USF3, USP13, USP19, USP4, UTS2B, VEPH1, VGLL3, VGLL4, VHL, VILL, VIPR1, VPS8, VWA5B2, WDR48, WDR49, WDR53, WDR5B, WDR6, WDR82, WNT5A, WNT7A, WWTR1, XCR1, XIRP1, XPC, XRN1, XXYLT1, XYLB, YEATS2, ZBBX, ZBED2, ZBTB11, ZBTB20, ZBTB38, ZBTB47, ZCWPW2, ZDHHC19, ZDHHC23, ZDHHC3, ZIC1, ZIC4, ZKSCAN7, ZMAT3, ZMYND10, ZNF148, ZNF197, ZNF35, ZNF385D, ZNF445, ZNF501, ZNF502, ZNF589, ZNF619, ZNF620, ZNF621, ZNF639, ZNF654, ZNF660, ZNF662, ZNF717, ZNF80, ZNF852, ZNF860, ZPLD1, ZXDC, A4GNT, AADAC, AADACL2, ABCC5, ABCF3, ABHD10, ABHD14A, ABHD14B, ABHD5, ABHD6, ABI3BP, ABTB1, ACAA1, ACAD11, ACAD9, ACAP2, ACKR2, ACKR4, ACOX2, ACP3, ACTL6A, ACTR8, ACTRT3, ACVR2B, ACY1, ADAMTS9, ADCY5, ADGRG7, ADIPOQ, ADPRH, AGTR1, AHSG, ALAS1, ALCAM, ALDH1L1, ALG1L2, ALG3, ALS2CL, AMIGO3, AMOTL2, AMT, ANAPC13, ANKRD28, ANKUB1, ANO10, AP2M1, APEH, APOD, APPL1, APRG1, ARF4, ARGFX, ARHGAP31, ARHGEF26, ARHGEF3, ARIH2, ARIH2OS, ARL13B, ARL14, ARL6, ARL6IP5, ARL8B, ARMC8, ARPC4, ARPC4-TTLL3, ARPP21, ASB14, ASTE1, ATG3, ATG7, ATP11B, ATP13A3, ATP13A4, ATP13A5, ATP1B3, ATP2B2, ATP2C1, ATP6V1A, ATR, ATRIP, ATXN7, AZI2, B3GALNT1, B3GNT5, B4GALT4, BAP1, BBX, BCHE, BCL6, BDH1, BFSP2, BHLHE40, BOC, BRK1, BRPF1, BSN, BTD, BTLA, C3orf14, C3orf18, C3orf20, C3orf22, C3orf33 | | See cases | Pathogenic (Dec 2, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr3:61892-197851986
| BRK1, BRPF1, BSN, BTD, BTLA, C3orf14, C3orf18, C3orf20, C3orf22, C3orf33, C3orf36, C3orf38, C3orf52, C3orf62, C3orf70, C3orf80, C3orf84, CACNA1D, CACNA2D2, CACNA2D3, CADM2, CADPS, CAMK1, CAMK2N2, CAMKV, CAMP, CAND2, CAPN7, CASR, CAV3, CBLB, CCDC12, CCDC13, CCDC14, CCDC174, CCDC191, CCDC39, CCDC50, CCDC51, CCDC54, CCDC66, CCDC71, CCDC80, CCK, CCNL1, CCR1, CCR2, CCR3, CCR4, CCR5, CCR8, CCR9, CCRL2, CD200, CD200R1, CD200R1L, CD47, CD80, CD86, CD96, CDC25A, CDCP1, CDHR4, CDV3, CELSR3, CEP19, CEP63, CEP70, CEP97, CFAP100, CFAP20DC, CFAP44, CFAP91, CFAP92, CGGBP1, CHCHD4, CHCHD6, CHDH, CHL1, CHMP2B, CHRD, CHST13, CHST2, CIDEC, CIP2A, CISH, CLASP2, CLCN2, CLDN1, CLDN11, CLDN16, CLDN18, CLDND1, CLEC3B, CLRN1, CLSTN2, CMC1, CMSS1, CMTM6, CMTM7, CMTM8, CNBP, CNOT10, CNTN3, CNTN4, CNTN6, COL6A5, COL6A6, COL7A1, COL8A1, COLQ, COMMD2, COPB2, COPG1, COX17, CP, CPA3, CPB1, CPN2, CPNE4, CPNE9, CPOX, CRBN, CRELD1, CRTAP, CRYBG3, CRYGS, CSPG5, CSRNP1, CSTA, CTDSPL, CTNNB1, CX3CR1, CXCR6, CYB561D2, CYP8B1, DAG1, DALRD3, DAZL, DBR1, DCAF1, DCBLD2, DCLK3, DCP1A, DCUN1D1, DENND6A, DGKG, DHFR2, DHX30, DHX36, DIPK2A, DLEC1, DLG1, DNAH1, DNAH12, DNAJB11, DNAJB8, DNAJC13, DNAJC19, DNASE1L3, DOCK3, DPH3, DPPA2, DPPA4, DRD3, DTX3L, DUSP7, DVL3, DYNC1LI1, DYNLT2B, DZIP1L, DZIP3, EAF1, EAF2, EBLN2, ECE2, ECT2, EDEM1, EEFSEC, EFCAB12, EFCC1, EFHB, EGOT, EHHADH, EIF1B, EIF2A, EIF2B5, EIF4A2, EIF4E3, EIF4G1, EIF5A2, ELP6, EMC3, ENTPD3, EOGT, EOMES, EPHA3, EPHA6, EPHB1, EPHB3, EPM2AIP1, ERC2, ERICH6, ESRG, ESYT3, ETV5, EXOG, EXOSC7, FAIM, FAM107A, FAM131A, FAM162A, FAM3D, FAM43A, FANCD2, FANCD2OS, FBLN2, FBXL2, FBXO40, FBXO45, FBXW12, FETUB, FEZF2, FGD5, FGD5-AS1, FGF12, FHIT, FILIP1L, FLNB, FNDC3B, FOXL2, FOXL2NB, FOXP1, FOXP1-IT1, FRG2C, FRMD4B, FSTL1, FXR1, FYCO1, FYTTD1, GABRR3, GADL1, GALNT15, GAP43, GASK1A, GATA2, GBE1, GCSAM, GFM1, GHRL, GHRLOS, GHSR, GK5, GLB1, GLT8D1, GLYCTK, GMNC, GMPPB, GMPS, GNAI2, GNAT1, GNB4, GNL3, GOLGA4, GOLGB1, GOLIM4, GORASP1, GP5, GP9, GPD1L, GPR149, GPR15, GPR156, GPR160, GPR171, GPR27, GPR62, GPR87, GPX1, GRAMD1C, GRIP2, GRK7, GRM2, GRM7, GSK3B, GTF2E1, GTPBP8, GUCA1C, GXYLT2, GYG1, H1-10, H1-8, HACD2, HACL1, HCLS1, HDAC11, HEG1, HEMK1, HES1, HESX1, HGD, HHATL, HHLA2, HIGD1A, HLTF, HMCES, HPS3, HRG, HRH1, HSPBAP1, HTR1F, HTR3C, HTR3D, HTR3E, HYAL1, HYAL2, HYAL3, IFRD2, IFT122, IFT57, IFT80, IGF2BP2, IGSF10, IGSF11, IGSF11-AS1, IHO1, IL12A, IL17RB, IL17RC, IL17RD, IL17RE, IL1RAP, IL20RB, IL5RA, ILDR1, IMPDH2, IMPG2, INKA1, IP6K1, IP6K2, IQCB1, IQCF1, IQCF2, IQCF3, IQCF5, IQCF6, IQCG, IQCJ, IQCJ-SCHIP1, IQSEC1, IRAK2, ISY1, ISY1-RAB43, ITGA9, ITGB5, ITIH1, ITIH3, ITIH4, ITPR1, JAGN1, KALRN, KAT2B, KBTBD12, KBTBD8, KCNAB1, KCNH8, KCNMB2, KCNMB3, KCTD6, KIAA1143, KIF15, KIF9, KLF15, KLHDC8B, KLHL18, KLHL24, KLHL40, KLHL6, KNG1, KPNA1, KPNA4, KRBOX1, KRBOX1-AS1, KY, LAMB2, LAMP3, LARS2, LEKR1, LHFPL4, LIMD1, LINC00312, LINC01565, LINC02877, LIPH, LMCD1, LMLN, LMOD3, LNP1, LPP, LRCH3, LRIG1, LRRC15, LRRC2, LRRC31, LRRC34, LRRC3B, LRRC58, LRRFIP2, LRRIQ4, LRRN1, LRTM1, LSAMP, LSG1, LSM3, LSMEM2, LTF, LXN, LYZL4, LZTFL1, MAGEF1, MAGI1, MANF, MAP3K13, MAP4, MAP6D1, MAPKAPK3, MASP1, MB21D2, MBD4, MBNL1, MCCC1, MCF2L2, MCM2, MECOM, MED12L, MELTF, METTL6, MFN1, MFSD1, MGLL, MINDY4B, MIR1224, MIR128-2, MIR138-1, MIR191, MIR26A1, MIR28, MIR570, MIRLET7G, MITF, MIX23, MKRN2, MLF1, MLH1, MME, MOBP, MON1A, MORC1, MORC1-AS1, MRAS, MRPL3, MRPL47, MRPS22, MRPS25, MSL2, MST1, MST1R, MTMR14, MUC13, MUC20, MUC4, MUSTN1, MYD88, MYH15, MYL3, MYLK, MYNN, MYRIP, NAA50, NAA80, NAALADL2, NBEAL2, NCBP2, NCEH1, NCK1, NCKIPSD, NDUFAF3, NDUFB4, NDUFB5, NECTIN3, NECTIN3-AS1, NEK10, NEK11, NEK4, NEPRO, NFKBIZ, NGLY1, NICN1, NISCH, NIT2, NKIRAS1, NKTR, NLGN1, NMD3, NME6, NME9, NMNAT3, NPCDR1, NPHP3, NPRL2, NR1D2, NR1I2, NR2C2, NRROS, NSUN3, NT5DC2, NUDT16, NUP210, NXPE3, OGG1, OPA1, OR5AC2, OR5H1, OR5H14, OR5H15, OR5H2, OR5H6, OR5K1, OR5K2, OR5K3, OR5K4, OSBPL10, OSBPL11, OSTN, A4GNT, AADAC, AADACL2, ABCC5, ABCF3, ABHD10, ABHD14A, ABHD14B, ABHD5, ABHD6, ABI3BP, ABTB1, ACAA1, ACAD11, ACAD9, ACAP2, ACKR2, ACKR4, ACOX2, ACP3, ACTL6A, ACTR8, ACTRT3, ACVR2B, ACY1, ADAMTS9, ADCY5, ADGRG7, ADIPOQ, ADPRH, AGTR1, AHSG, ALAS1, ALCAM, ALDH1L1, ALG1L2, ALG3, ALS2CL, AMIGO3, AMOTL2, AMT, ANAPC13, ANKRD28, ANKUB1, ANO10, AP2M1, APEH, APOD, APPL1, APRG1, ARF4, ARGFX, ARHGAP31, ARHGEF26, ARHGEF3, ARIH2, ARIH2OS, ARL13B, ARL14, ARL6, ARL6IP5, ARL8B, ARMC8, ARPC4, ARPC4-TTLL3, ARPP21, ASB14, ASTE1, ATG3, ATG7, ATP11B, ATP13A3, ATP13A4, ATP13A5, ATP1B3, ATP2B2, ATP2C1, ATP6V1A, ATR, ATRIP, ATXN7, AZI2, B3GALNT1, B3GNT5, B4GALT4, BAP1, BBX, BCHE, BCL6, BDH1, BFSP2, BHLHE40, BOC, OTOL1, OXNAD1, OXSM, OXSR1, OXTR, P2RY1, P2RY12, P2RY13, P2RY14, P3H2, P4HTM, PAK2, PAQR9, PARL, PARP14, PARP15, PARP3, PARP9, PBRM1, PCBP4, PCCB, PCNP, PCOLCE2, PCYT1A, PDCD10, PDCD6IP, PDE12, PDHB, PDIA5, PDZRN3, PEX5L, PFKFB4, PFN2, PHC3, PHF7, PHLDB2, PIGX, PIGZ, PIK3CA, PIK3CB, PIK3R4, PLA1A, PLAAT1, PLCD1, PLCH1, PLCL2, PLCXD2, PLD1, PLOD2, PLS1, PLSCR1, PLSCR2, PLSCR4, PLSCR5, PLXNA1, PLXNB1, PLXND1, POC1A, PODXL2, POGLUT1, POLQ, POLR2H, POMGNT2, POPDC2, POU1F1, PP2D1, PPARG, PPM1L, PPM1M, PPP1R2, PPP2R3A, PPP4R2, PRICKLE2, PRKAR2A, PRKCD, PRKCI, PROK2, PROS1, PRR23A, PRR23B, PRR23C, PRR23E, PRRT3, PRSS50, PSMD2, PSMD6, PTH1R, PTPN23, PTPRG, PTX3, PXK, PXYLP1, PYDC2, QARS1, QRICH1, QTRT2, RAB43, RAB5A, RAB6B, RAB7A, RABL3, RAD18, RAD54L2, RAF1, RAP2B, RARB, RARRES1, RASA2, RASSF1, RBM15B, RBM5, RBM6, RBMS3, RBP1, RBP2, RBSN, RETNLB, RFC4, RFT1, RFTN1, RHO, RHOA, RIOX2, RNF123, RNF13, RNF168, RNF7, ROBO1, ROBO2, ROPN1, ROPN1B, RPL14, RPL15, RPL22L1, RPL24, RPL29, RPL32, RPL35A, RPL39L, RPN1, RPP14, RPSA, RPUSD3, RRP9, RSRC1, RTP1, RTP2, RTP3, RTP4, RUBCN, RUVBL1, RYBP, RYK, SACM1L, SAMD7, SATB1, SCAP, SCHIP1, SCN10A, SCN11A, SCN5A, SEC13, SEC22A, SEC22C, SEC61A1, SEC62, SELENOK, SELENOT, SEMA3B, SEMA3F, SEMA3F-AS1, SEMA3G, SEMA5B, SENP2, SENP5, SENP7, SERP1, SERPINI1, SERPINI2, SETD2, SETD5, SETMAR, SFMBT1, SGO1, SH3BP5, SHISA5, SHOX2, SHQ1, SI, SIAH2, SIDT1, SKIL, SLC12A8, SLC15A2, SLC22A13, SLC22A14, SLC25A20, SLC25A36, SLC25A38, SLC26A6, SLC2A2, SLC33A1, SLC35A5, SLC35G2, SLC38A3, SLC41A3, SLC49A4, SLC4A7, SLC51A, SLC6A1, SLC6A11, SLC6A20, SLC6A6, SLC7A14, SLC9A9, SLC9C1, SLCO2A1, SLITRK3, SLMAP, SMARCC1, SMC4, SMCO1, SNORA62, SNORA63, SNORA81, SNRK, SNTN, SNX4, SOX14, SOX2, SOX2-OT, SPATA12, SPATA16, SPCS1, SPICE1, SPINK8, SPSB4, SPTSSB, SRGAP3, SRPRB, SS18L2, SSR3, SST, SSUH2, ST3GAL6, ST6GAL1, STAB1, STAC, STAG1, STIMATE, STIMATE-MUSTN1, STT3B, STX19, STXBP5L, SUCLG2, SUCNR1, SUMF1, SUSD5, SYN2, SYNPR, TADA3, TAFA1, TAFA4, TAGLN3, TAMM41, TASOR, TATDN2, TBC1D23, TBC1D5, TBCCD1, TBL1XR1, TCAIM, TCTA, TDGF1, TERC, TEX264, TEX55, TF, TFDP2, TFG, TFRC, TGFBR2, TGM4, THOC7, THPO, THRB, THUMPD3, TIGIT, TIMMDC1, TIMP4, TIPARP, TKT, TLR9, TM4SF1, TM4SF18, TM4SF19, TM4SF4, TMA7, TMCC1, TMEM108, TMEM115, TMEM158, TMEM207, TMEM212, TMEM39A, TMEM40, TMEM41A, TMEM42, TMEM43, TMEM44, TMEM45A, TMEM89, TMF1, TMIE, TMPPE, TMPRSS7, TNFSF10, TNIK, TNK2, TNK2-AS1, TNNC1, TOMM70, TOP2B, TOPAZ1, TOPBP1, TP63, TPRA1, TPRG1, TRA2B, TRAIP, TRAK1, TRANK1, TRAT1, TREX1, TRH, TRIM42, TRIM59, TRIM71, TRMT10C, TRNT1, TRPC1, TSC22D2, TSEN2, TTC14, TTC21A, TTLL3, TUSC2, TWF2, TXNRD3, TXNRD3NB, U2SURP, UBA3, UBA5, UBA7, UBE2E1, UBE2E2, UBP1, UBXN7, UCN2, ULK4, UMPS, UPK1B, UQCC5, UQCRC1, UROC1, USF3, USP13, USP19, USP4, UTS2B, VEPH1, VGLL3, VGLL4, VHL, VILL, VIPR1, VPS8, VWA5B2, WDR48, WDR49, WDR53, WDR5B, WDR6, WDR82, WNT5A, WNT7A, WWTR1, XCR1, XIRP1, XPC, XRN1, XXYLT1, XYLB, YEATS2, ZBBX, ZBED2, ZBTB11, ZBTB20, ZBTB38, ZBTB47, ZCWPW2, ZDHHC19, ZDHHC23, ZDHHC3, ZIC1, ZIC4, ZKSCAN7, ZMAT3, ZMYND10, ZNF148, ZNF197, ZNF35, ZNF385D, ZNF445, ZNF501, ZNF502, ZNF589, ZNF619, ZNF620, ZNF621, ZNF639, ZNF654, ZNF660, ZNF662, ZNF717, ZNF80, ZNF852, ZNF860, ZPLD1, ZXDC | | See cases | Pathogenic (Jul 14, 2015) | no assertion criteria provided |
| | ATXN7 | | Spinocerebellar ataxia 7 | Pathogenic (Sep 1, 1997) | no assertion criteria provided |