| - GRCh37:
- Chr4:52697788-98426769
- GRCh38:
- Chr4:51831622-97505618
| LOC129389216, LOC129389217, LOC129389218, LOC129389219, LOC129389220, LOC129389221, LOC129389222, LOC129389223, LOC129389224, LOC129389225, LOC129389226, LOC129389227, LOC129389228, LOC129389229, LOC129992579, LOC129992580, LOC129992581, LOC129992582, LOC129992583, LOC129992584, LOC129992585, LOC129992586, LOC129992587, LOC129992588, LOC129992589, LOC129992590, LOC129992591, LOC129992592, LOC129992593, LOC129992594, LOC129992595, LOC129992596, LOC129992597, LOC129992598, LOC129992599, LOC129992600, LOC129992601, LOC129992602, LOC129992603, LOC129992604, LOC129992605, LOC129992606, LOC129992607, LOC129992608, LOC129992609, LOC129992610, LOC129992611, LOC129992612, LOC129992613, LOC129992614, LOC129992615, LOC129992616, LOC129992617, LOC129992618, LOC129992619, LOC129992620, LOC129992621, LOC129992622, LOC129992623, LOC129992624, LOC129992625, LOC129992626, LOC129992627, LOC129992628, LOC129992629, LOC129992630, LOC129992631, LOC129992632, LOC129992633, LOC129992634, LOC129992635, LOC129992636, LOC129992637, LOC129992638, LOC129992639, LOC129992640, LOC129992641, LOC129992642, LOC129992643, LOC129992644, LOC129992645, LOC129992646, LOC129992647, LOC129992648, LOC129992649, LOC129992650, LOC129992651, LOC129992652, LOC129992653, LOC129992654, LOC129992655, LOC129992656, LOC129992657, LOC129992658, LOC129992659, LOC129992660, LOC129992661, LOC129992662, LOC129992663, LOC129992664, LOC129992665, LOC129992666, LOC129992667, LOC129992668, LOC129992669, LOC129992670, LOC129992671, LOC129992672, LOC129992673, LOC129992674, LOC129992675, LOC129992676, LOC129992677, LOC129992678, LOC129992679, LOC129992680, LOC129992681, LOC129992682, LOC129992683, LOC129992684, LOC129992685, LOC129992686, LOC129992687, LOC129992688, LOC129992689, LOC129992690, LOC129992691, LOC129992692, LOC129992693, LOC129992694, LOC129992695, LOC129992696, LOC129992697, LOC129992698, LOC129992699, LOC129992700, LOC129992701, LOC129992702, LOC129992703, LOC129992704, LOC129992705, LOC129992706, LOC129992707, LOC129992708, LOC129992709, LOC129992710, LOC129992711, LOC129992712, LOC129992713, LOC129992714, LOC129992715, LOC129992716, LOC129992717, LOC129992718, LOC129992719, LOC129992720, LOC129992721, LOC129992722, LOC129992723, LOC129992724, LOC129992725, LOC129992726, LOC129992727, LOC129992728, LOC129992729, LOC129992730, LOC129992731, LOC129992732, LOC129992733, LOC129992734, LOC129992735, LOC129992736, LOC129992737, LOC129992738, LOC129992739, LOC129992740, LOC129992741, LOC129992742, LOC129992743, LOC129992744, LOC129992745, LOC129992746, LOC129992747, LOC129992748, LOC129992749, LOC129992750, LOC129992751, LOC129992752, LOC129992753, LOC129992754, LOC129992755, LOC129992756, LOC129992757, LOC129992758, LOC129992759, LOC129992760, LOC129992761, LOC129992762, LOC129992763, LOC129992764, LOC129992765, LOC129992766, LOC129992767, LOC129992768, LOC129992769, LOC129992770, LOC129992771, LOC129992772, LOC129992773, LOC129992774, LOC129992775, LOC129992776, LOC129992777, LOC129992778, LOC129992779, LOC129992780, LOC129992781, LOC129992782, LOC129992783, LOC129992784, LOC129992785, LOC129992786, LOC129992787, LOC129992788, LOC129992789, LOC129992790, LOC129992791, LOC129992792, LOC129992793, LOC129992794, LOC129992795, LOC129992796, LOC129992797, LOC129992798, LOC129992799, LOC129992800, LOC129992801, LOC129992802, LOC129992803, LOC129992804, LOC129992805, LOC129992806, LOC129992807, LOC129992808, LOC129992809, LOC129992810, LOC129992811, LOC129992812, LOC129992813, LOC129992814, LOC129992815, LOC129992816, LOC129992817, LOC129992818, LOC129992819, LOC129992820, LOC129992821, LOC129992822, LOC129992823, LOC129992824, LOC129992825, LOC129992826, LOC129992827, LOC129992828, LOC129992829, LOC129992830, LOC129992831, LOC129992832, LOC129992833, LOC129992834, LOC129992835, LOC129992836, LOC129992837, LOC129992838, LOC129992839, LOC129992840, LOC129992841, LOC129992842, LOC129992843, LOC129992844, LOC129992845, LOC129992846, LOC129992847, LOC550113, LRRC66, MAPK10, MAPK10-AS1, MEPE, MIR1269A, MIR4449, MIR4450, MIR4451, MIR4452, MIR548AG1, MIR548AH, MIR5705, MIR575, MMRN1, MOB1B, MRPL1, MRPS18C, MTHFD2L, MUC7, NAA11, NAAA, NAP1L5, NKX6-1, NMU, NOA1, NPFFR2, NUDT9, NUP54, ODAM, ODAPH, OPRPN, PAICS, PAQR3, PARM1, PARM1-AS1, PCAT4, PDCL2, PDGFRA, PDHA2, PDLIM5, PF4, PF4V1, PIGY, PIGY-DT, PKD2, PLAC8, POLR2B, PPAT, PPBP, PPEF2, PPM1K, PPM1K-DT, PRDM8, PRDM8-AS1, PRKG2, PRKG2-AS1, PRR27, PTPN13, PYURF, RASGEF1B, RASL11B, RASSF6, RCHY1, REST, RUFY3, SCARB2, SCD5, SCFD2, SCPPPQ1, SDAD1, SDAD1-AS1, SEC31A, SEPTIN11, SGCB, SHROOM3, SHROOM3-AS1, SLC10A6, SLC4A4, SMARCAD1, SMARCAD1-DT, SMR3A, SMR3B, SNCA, SNCA-AS1, SNORA26, SNORD143, SNORD144, SNORD161, SOWAHB, SPARCL1, SPATA18, SPINK2, SPMAP2L, SPP1, SRD5A3, SRD5A3-AS1, SRP72, STAP1, STATH, STBD1, STPG2, STPG2-AS1, SULT1B1, SULT1E1, TECRL, THAP6, THAP9, THAP9-AS1, TIGD2, TMEM150C, TMEM165, TMPRSS11A, TMPRSS11B, TMPRSS11D, TMPRSS11E, TMPRSS11F, UBA6, UBA6-DT, UGT2A1, UGT2A2, UGT2A3, UGT2B10, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UMLILO, UNC5C, UNC5C-AS1, USO1, USP46, USP46-DT, UTP3, WDFY3, WDFY3-AS1, WDFY3-AS2, YTHDC1, AASDH, ABCG2, ABRAXAS1, ADAMTS3, ADGRL3, ADGRL3-AS1, AFF1, AFF1-AS1, AFM, AFP, ALB, AMBN, AMTN, ANKRD17, ANKRD17-DT, ANTXR2, ANXA3, AREG, ARHGAP24, ARL9, ART3, ATOH1, BMP2K, BMP2K-DT, BMP3, BMPR1B, BMPR1B-DT, BTC, C4orf36, CABS1, CCDC158, CCNG2, CCNI, CCSER1, CDKL2, CDS1, CENPC, CEP135, CFAP299, CHIC2, CLOCK, CNOT6L, COPS4, COQ2, COX18, CRACD, CSN1S1, CSN2, CSN3, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, DANCR, DCK, DCUN1D4, DMP1, DSPP, ENAM, ENOPH1, EPGN, EPHA5, EPHA5-AS1, EREG, ERVMER34-1, EXOC1, EXOC1L, FAM13A, FAM13A-AS1, FAM47E, FAM47E-STBD1, FDCSP, FGF5, FIP1L1, FRAS1, G3BP2, GC, GK2, GNRHR, GPAT3, GPRIN3, GRID2, GRSF1, GSX2, HELQ, HERC3, HERC5, HERC6, HNRNPD, HNRNPD-DT, HNRNPDL, HOPX, HPGDS, HPSE, HSD17B11, HSD17B13, HTN1, HTN3, IBSP, IGFBP7, IGFBP7-AS1, INKILN, JCHAIN, KDR, KIT, KLHL8, LIN54, LINC00575, LINC00989, LINC01088, LINC01094, LINC01618, LINC02232, LINC02260, LINC02267, LINC02271, LINC02283, LINC02380, LINC02429, LINC02480, LINC02483, LINC02494, LINC02496, LINC02499, LINC02562, LINC02619, LINC02994, LNCPRESS2, LNX1, LNX1-AS1, LNX1-AS2, LOC100506444, LOC101927237, LOC101928893, LOC105377253, LOC105377267, LOC105377276, LOC105377672, LOC107988048, LOC110120742, LOC110120743, LOC110120745, LOC110120752, LOC110120783, LOC110121083, LOC110121104, LOC110121111, LOC110121177, LOC110121183, LOC110283621, LOC110351180, LOC111365205, LOC111589210, LOC111591506, LOC111828520, LOC111832670, LOC111832671, LOC112978669, LOC112978670, LOC112978671, LOC112997534, LOC112997535, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC112997542, LOC112997543, LOC112997544, LOC112997545, LOC112997546, LOC112997547, LOC114004386, LOC114803476, LOC114827842, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC116158494, LOC116158495, LOC116158496, LOC116158497, LOC116158498, LOC116158499, LOC116158500, LOC116158501, LOC116158502, LOC116158503, LOC121053179, LOC121053180, LOC121053181, LOC121053182, LOC121053183, LOC121053184, LOC121053185, LOC121053186, LOC121053187, LOC121053188, LOC121725171, LOC121725172, LOC121725173, LOC121725174, LOC121725175, LOC121725176, LOC121725177, LOC121725178, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC123477748, LOC123477749, LOC123477750, LOC123477751, LOC123477752, LOC123477753, LOC123477754, LOC123477755, LOC123477756, LOC123477757, LOC123477758, LOC123477759, LOC123477760, LOC123477761, LOC123477762, LOC123477763, LOC123477764, LOC123477765, LOC123477766, LOC123477767, LOC123477768, LOC123477769, LOC123477770, LOC123477771, LOC123477772, LOC123477773, LOC123477774, LOC123477775, LOC123477776, LOC123477777, LOC123477778, LOC123477779, LOC123477780, LOC123477781, LOC123477782, LOC123477783, LOC123477784, LOC123477785, LOC123477786, LOC123477787, LOC123477788, LOC123477789, LOC123477790, LOC126807053, LOC126807054, LOC126807055, LOC126807056, LOC126807057, LOC126807058, LOC126807059, LOC126807060, LOC126807061, LOC126807062, LOC126807063, LOC126807064, LOC126807065, LOC126807066, LOC126807067, LOC126807068, LOC126807069, LOC126807070, LOC126807071, LOC126807072, LOC126807073, LOC126807074, LOC126807075, LOC126807076, LOC126807077, LOC126807078, LOC126807079, LOC126807080, LOC126807081, LOC126807082, LOC126807083, LOC126807084, LOC126807085, LOC126807086, LOC126807087, LOC126807088, LOC126807089, LOC126807090, LOC126807091, LOC126807092, LOC126807093, LOC126807094, LOC126807095, LOC126807096, LOC126807097, LOC126807098, LOC126807099, LOC126807100, LOC126807101, LOC126807102, LOC126807103, LOC126807104, LOC126807105, LOC126807106, LOC126807107, LOC126807108, LOC126807109, LOC126807110, LOC126807111, LOC126807112, LOC126807113, LOC126807114, LOC126807115, LOC126807116, LOC126807117, LOC129389211, LOC129389212, LOC129389213, LOC129389214, LOC129389215 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh38:
- Chr4:79123548-99457773
| ADH6, LOC123477775, LOC123477776, LOC129992789, SNCA, SNCA-AS1, SNORD143, SPP1, LOC129992799, LOC129992800, LOC129992801, LOC129992792, LOC129992793, LOC129992794, LOC129992795, STPG2, THAP9, SNORD144, STPG2-AS1, THAP9-AS1, LOC123477777, LOC123477778, LOC123477779, LOC123477780, LOC123477781, LOC123477782, LOC123477783, LOC123477784, LOC123477785, LOC123477786, LOC123477787, LOC123477788, AFF1, LOC123477789, LOC123477790, LOC123477791, LOC123477792, SPARCL1, LOC129992790, LOC129992791, LOC129992796, LOC129992797, LOC129992798, ADH7, AFF1-AS1, ANTXR2, ARHGAP24, ATOH1, BMP3, BMPR1B, ABCG2, ABRAXAS1, ADH1A, ADH1B, ADH1C, ADH4, ADH5, BMPR1B-DT, C4orf36, CCSER1, CDS1, CFAP299, COPS4, COQ2, DMP1, DSPP, EIF4E, ENOPH1, FAM13A, FAM13A-AS1, FGF5, GK2, GPAT3, GPRIN3, GRID2, HELQ, HERC3, HERC5, HERC6, HNRNPD, HNRNPD-DT, HNRNPDL, HPGDS, HPSE, HSD17B11, HSD17B13, IBSP, KLHL8, LIN54, LINC00575, LINC00989, LINC01088, LINC02267, LINC02994, LNCPRESS2, LOC100507053, LOC107988048, LOC110120743, LOC110120752, LOC110121083, LOC110121104, LOC110283621, LOC110351180, LOC111188164, LOC111216272, LOC111216273, LOC111216288, LOC111216289, LOC111216290, LOC111216291, LOC111216292, LOC111240471, LOC111365205, LOC112935970, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC112997542, LOC112997543, LOC112997544, LOC112997545, LOC112997546, LOC112997547, LOC116158501, LOC116158502, LOC116158503, LOC116158504, LOC116158505, LOC121053188, LOC121053189, LOC121725174, LOC121725175, LOC121725176, LOC121725177, LOC121725178, LOC121725179, LOC123477770, LOC123477771, LOC123477772, LOC123477773, LOC123477774, LOC126807092, LOC126807093, LOC126807094, LOC126807095, LOC126807096, LOC126807097, LOC126807098, LOC126807099, LOC126807100, LOC126807101, LOC126807102, LOC126807103, LOC126807104, LOC126807105, LOC126807106, LOC126807107, LOC126807108, LOC126807109, LOC126807110, LOC126807111, LOC126807112, LOC126807113, LOC126807114, LOC126807115, LOC126807116, LOC126807117, LOC126807118, LOC126807119, LOC126807120, LOC126807121, LOC126807122, LOC126807123, LOC129389220, LOC129389221, LOC129389222, LOC129389223, LOC129389224, LOC129389225, LOC129389226, LOC129389227, LOC129389228, LOC129389229, LOC129992737, LOC129992738, LOC129992739, LOC129992740, LOC129992741, LOC129992742, LOC129992743, LOC129992744, LOC129992745, LOC129992746, LOC129992747, LOC129992748, LOC129992749, LOC129992750, LOC129992751, LOC129992752, LOC129992753, LOC129992754, LOC129992755, LOC129992756, LOC129992757, LOC129992758, LOC129992759, LOC129992760, LOC129992761, LOC129992762, LOC129992763, LOC129992764, LOC129992765, LOC129992766, LOC129992767, LOC129992768, LOC129992769, LOC129992770, LOC129992771, LOC129992772, LOC129992773, LOC129992774, LOC129992775, LOC129992776, LOC129992777, LOC129992778, LOC129992779, LOC129992780, LOC129992781, LOC129992782, LOC129992783, LOC129992784, LOC129992785, LOC129992786, LOC129992787, LOC129992788, LOC129992802, LOC129992803, LOC129992804, LOC129992805, LOC129992806, LOC129992807, LOC129992808, LOC129992809, LOC129992810, LOC129992811, LOC129992812, LOC129992813, LOC129992814, LOC129992815, LOC129992816, LOC129992817, LOC129992818, LOC129992819, LOC129992820, LOC129992821, LOC129992822, LOC129992823, LOC129992824, LOC129992825, LOC129992826, LOC129992827, LOC129992828, LOC129992829, LOC129992830, LOC129992831, LOC129992832, LOC129992833, LOC129992834, LOC129992835, LOC129992836, LOC129992837, LOC129992838, LOC129992839, LOC129992840, LOC129992841, LOC129992842, LOC129992843, LOC129992844, LOC129992845, LOC129992846, LOC129992847, LOC129992848, LOC129992849, LOC129992850, LOC129992851, LOC129992852, LOC129992853, LOC129992854, LOC129992855, LOC129992856, LOC129992857, MAPK10, MAPK10-AS1, MEPE, METAP1, MIR3684, MIR4451, MIR4452, MIR5705, MIR575, MMRN1, MRPS18C, NAA11, NAP1L5, NKX6-1, NUDT9, PCAT4, PDHA2, PDLIM5, PIGY, PIGY-DT, PKD2, PLAC8, PPM1K, PPM1K-DT, PRDM8, PRDM8-AS1, PRKG2, PRKG2-AS1, PTPN13, PYURF, RAP1GDS1, RASGEF1B, SCD5, SCPPPQ1, SEC31A, SLC10A6, SMARCAD1, SMARCAD1-DT, TIGD2, TMEM150C, TSPAN5, TSPAN5-DT, UNC5C, UNC5C-AS1, WDFY3, WDFY3-AS1, WDFY3-AS2 | | Chromosome 4q21 deletion syndrome | Pathogenic (Aug 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:81348177-101776598
- GRCh38:
- Chr4:80427023-100855441
| ABCG2, ABRAXAS1, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, AFF1, AFF1-AS1, ARHGAP24, ATOH1, BMP3, BMPR1B, BMPR1B-DT, C4orf17, C4orf36, C4orf54, CCSER1, CDS1, CFAP299, COPS4, COQ2, DAPP1, DDIT4L, DDIT4L-AS1, DMP1, DNAJB14, DSPP, EIF4E, EMCN, ENOPH1, FAM13A, FAM13A-AS1, GPAT3, GPRIN3, GRID2, H2AZ1, H2AZ1-DT, HELQ, HERC3, HERC5, HERC6, HNRNPD, HNRNPD-DT, HNRNPDL, HPGDS, HPSE, HSD17B11, HSD17B13, IBSP, KLHL8, LAMTOR3, LIN54, LINC00575, LINC01216, LINC01217, LINC01218, LINC02267, LINC02994, LNCPRESS2, LOC100507053, LOC107988048, LOC110120743, LOC110120752, LOC110121083, LOC110121104, LOC110283621, LOC110351180, LOC111188164, LOC111216272, LOC111216273, LOC111216288, LOC111216289, LOC111216290, LOC111216291, LOC111216292, LOC111240471, LOC111365205, LOC112935970, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC112997542, LOC112997543, LOC112997544, LOC112997545, LOC112997546, LOC112997547, LOC116158504, LOC116158505, LOC121053188, LOC121053189, LOC121725174, LOC121725175, LOC121725176, LOC121725177, LOC121725178, LOC121725179, LOC123477772, LOC123477773, LOC123477774, LOC123477775, LOC123477776, LOC123477777, LOC123477778, LOC123477779, LOC123477780, LOC123477781, LOC123477782, LOC123477783, LOC123477784, LOC123477785, LOC123477786, LOC123477787, LOC123477788, LOC123477789, LOC123477790, LOC123477791, LOC123477792, LOC126807095, LOC126807096, LOC126807097, LOC126807098, LOC126807099, LOC126807100, LOC126807101, LOC126807102, LOC126807103, LOC126807104, LOC126807105, LOC126807106, LOC126807107, LOC126807108, LOC126807109, LOC126807110, LOC126807111, LOC126807112, LOC126807113, LOC126807114, LOC126807115, LOC126807116, LOC126807117, LOC126807118, LOC126807119, LOC126807120, LOC126807121, LOC126807122, LOC126807123, LOC126807124, LOC129389223, LOC129389224, LOC129389225, LOC129389226, LOC129389227, LOC129389228, LOC129389229, LOC129992747, LOC129992748, LOC129992749, LOC129992750, LOC129992751, LOC129992752, LOC129992753, LOC129992754, LOC129992755, LOC129992756, LOC129992757, LOC129992758, LOC129992759, LOC129992760, LOC129992761, LOC129992762, LOC129992763, LOC129992764, LOC129992765, LOC129992766, LOC129992767, LOC129992768, LOC129992769, LOC129992770, LOC129992771, LOC129992772, LOC129992773, LOC129992774, LOC129992775, LOC129992776, LOC129992777, LOC129992778, LOC129992779, LOC129992780, LOC129992781, LOC129992782, LOC129992783, LOC129992784, LOC129992785, LOC129992786, LOC129992787, LOC129992788, LOC129992789, LOC129992790, LOC129992791, LOC129992792, LOC129992793, LOC129992794, LOC129992795, LOC129992796, LOC129992797, LOC129992798, LOC129992799, LOC129992800, LOC129992801, LOC129992802, LOC129992803, LOC129992804, LOC129992805, LOC129992806, LOC129992807, LOC129992808, LOC129992809, LOC129992810, LOC129992811, LOC129992812, LOC129992813, LOC129992814, LOC129992815, LOC129992816, LOC129992817, LOC129992818, LOC129992819, LOC129992820, LOC129992821, LOC129992822, LOC129992823, LOC129992824, LOC129992825, LOC129992826, LOC129992827, LOC129992828, LOC129992829, LOC129992830, LOC129992831, LOC129992832, LOC129992833, LOC129992834, LOC129992835, LOC129992836, LOC129992837, LOC129992838, LOC129992839, LOC129992840, LOC129992841, LOC129992842, LOC129992843, LOC129992844, LOC129992845, LOC129992846, LOC129992847, LOC129992848, LOC129992849, LOC129992850, LOC129992851, LOC129992852, LOC129992853, LOC129992854, LOC129992855, LOC129992856, LOC129992857, LOC129992858, LOC129992859, LOC129992860, LOC129992861, LOC129992862, LOC129992863, LOC129992864, LOC129992865, LOC132088988, LOC132090708, MAPK10, MAPK10-AS1, MEPE, METAP1, MIR3684, MIR4451, MIR4452, MIR5705, MIR575, MMRN1, MRPS18C, MTTP, NAP1L5, NKX6-1, NUDT9, PDHA2, PDLIM5, PIGY, PIGY-DT, PKD2, PLAC8, PPM1K, PPM1K-DT, PRKG2, PRKG2-AS1, PTPN13, PYURF, RAP1GDS1, RASGEF1B, SCD5, SCPPPQ1, SEC31A, SLC10A6, SMARCAD1, SMARCAD1-DT, SNCA, SNCA-AS1, SNORA101A, SNORD143, SNORD144, SPARCL1, SPP1, STPG2, STPG2-AS1, THAP9, THAP9-AS1, TIGD2, TMEM150C, TRMT10A, TSPAN5, TSPAN5-DT, UNC5C, UNC5C-AS1, WDFY3, WDFY3-AS1, WDFY3-AS2 | | See cases | Pathogenic (Mar 21, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr4:93531564-102443148
- GRCh38:
- Chr4:92610413-101521991
| LOC129992850, LOC129992851, LOC129992852, LOC129992853, LOC129992854, LOC129992855, LOC129992856, LOC129992857, LOC129992858, LOC129992859, LOC129992860, LOC129992861, LOC129992862, LOC129992863, LOC129992864, LOC129992865, LOC129992866, LOC129992867, LOC129992868, LOC129992869, LOC129992870, LOC129992871, LOC129992872, LOC132088988, LOC132090708, METAP1, MIR1255A, MIR3684, MIR8066, MTTP, PDHA2, PDLIM5, PPP3CA, RAP1GDS1, SMARCAD1, SMARCAD1-DT, SNORA101A, STPG2, STPG2-AS1, TRMT10A, TSPAN5, TSPAN5-DT, UNC5C, UNC5C-AS1, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, ATOH1, BMPR1B, BMPR1B-DT, C4orf17, C4orf54, DAPP1, DDIT4L, DDIT4L-AS1, DNAJB14, EIF4E, EMCN, FLJ20021, GRID2, H2AZ1, H2AZ1-DT, HPGDS, LAMTOR3, LINC01216, LINC01217, LINC01218, LINC02267, LOC100507053, LOC110121104, LOC111188164, LOC111216272, LOC111216273, LOC111216288, LOC111216289, LOC111216290, LOC111216291, LOC111216292, LOC111240471, LOC112935970, LOC112997547, LOC116158504, LOC116158505, LOC121053189, LOC121725179, LOC121725180, LOC123477788, LOC123477789, LOC123477790, LOC123477791, LOC123477792, LOC123477793, LOC123477794, LOC126807112, LOC126807113, LOC126807114, LOC126807115, LOC126807116, LOC126807117, LOC126807118, LOC126807119, LOC126807120, LOC126807121, LOC126807122, LOC126807123, LOC126807124, LOC129389226, LOC129389227, LOC129389228, LOC129389229, LOC129992839, LOC129992840, LOC129992841, LOC129992842, LOC129992843, LOC129992844, LOC129992845, LOC129992846, LOC129992847, LOC129992848, LOC129992849 | | See cases | Pathogenic (Apr 30, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr4:96761317
- GRCh38:
- Chr4:95840166
| PDHA2 | I6F | Inborn genetic diseases | Uncertain significance (Apr 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:96761354
- GRCh38:
- Chr4:95840203
| PDHA2 | A18V | Inborn genetic diseases | Uncertain significance (Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:96761363
- GRCh38:
- Chr4:95840212
| PDHA2 | V21E | not provided | Benign (May 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:96761396
- GRCh38:
- Chr4:95840245
| PDHA2 | A32V | Inborn genetic diseases | Uncertain significance (May 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:96761614
- GRCh38:
- Chr4:95840463
| PDHA2 | G105S | Inborn genetic diseases | Uncertain significance (May 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:96761857
- GRCh38:
- Chr4:95840706
| PDHA2 | E186K | Inborn genetic diseases | Uncertain significance (Sep 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:96761869
- GRCh38:
- Chr4:95840718
| PDHA2 | T190A | Inborn genetic diseases | Uncertain significance (Feb 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:96761869
- GRCh38:
- Chr4:95840718
| PDHA2 | T190P | Inborn genetic diseases | Uncertain significance (Feb 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:96761905
- GRCh38:
- Chr4:95840754
| PDHA2 | I202V | Inborn genetic diseases | Uncertain significance (Nov 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:96761965
- GRCh38:
- Chr4:95840814
| PDHA2 | N222D | Inborn genetic diseases | Uncertain significance (Jul 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:96761980
- GRCh38:
- Chr4:95840829
| PDHA2 | M227V | Oligosynaptic infertility, Spermatogenic failure 70, Azoospermia
| Pathogenic (Apr 6, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr4:96762043
- GRCh38:
- Chr4:95840892
| PDHA2 | P248S | Inborn genetic diseases | Uncertain significance (Feb 22, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:96762158
- GRCh38:
- Chr4:95841007
| PDHA2 | R286P | not provided | Benign (Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:96762167
- GRCh38:
- Chr4:95841016
| PDHA2 | G289A | Inborn genetic diseases | Uncertain significance (Aug 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:96762341
- GRCh38:
- Chr4:95841190
| PDHA2 | A347G | Inborn genetic diseases | Uncertain significance (Aug 4, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:96762460
- GRCh38:
- Chr4:95841309
| PDHA2 | V387F | Inborn genetic diseases | Uncertain significance (Dec 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:96528246-96804793
| PDHA2 | | not provided | Uncertain significance (Jun 2, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr4:95490755-109977216
| ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, AIMP1, ARHGEF38, BANK1, BDH2, BMPR1B, C4orf17, CENPE, CISD2, COL25A1, CXXC4, CYP2U1, DAPP1, DDIT4L, DKK2, DNAJB14, EIF4E, EMCN, ETNPPL, GIMD1, GSTCD, H2AZ1, HADH, INTS12, LAMTOR3, LEF1, MANBA, METAP1, MTTP, NFKB1, NPNT, OSTC, PAPSS1, PDHA2, PDLIM5, PPA2, PPP3CA, RAP1GDS1, RPL34, SGMS2, SLC39A8, SLC9B1, SLC9B2, STPG2, TACR3, TBCK, TET2, TRMT10A, TSPAN5, UBE2D3, UNC5C | | not provided | Likely pathogenic (May 1, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr4:52866944-143582507
| AASDH, ABCG2, ABHD18, ABRAXAS1, ADAD1, ADAMTS3, ADGRL3, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, AFF1, AFG2A, AFM, AFP, AIMP1, ALB, ALPK1, AMBN, AMTN, ANK2, ANKRD17, ANKRD50, ANTXR2, ANXA3, ANXA5, AP1AR, AREG, ARHGAP24, ARHGEF38, ARL9, ARSJ, ART3, ATOH1, BANK1, BBS12, BBS7, BDH2, BLTP1, BMP2K, BMP3, BMPR1B, BTC, C4orf17, C4orf3, C4orf33, C4orf36, CABS1, CAMK2D, CASP6, CCDC158, CCNA2, CCNG2, CCNI, CCSER1, CDKL2, CDS1, CENPC, CENPE, CEP135, CFAP299, CFI, CHIC2, CISD2, CLGN, CLOCK, CNOT6L, COL25A1, COPS4, COQ2, COX18, CRACD, CSN1S1, CSN2, CSN3, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, CXXC4, CYP2U1, DANCR, DAPP1, DCK, DDIT4L, DKK2, DMP1, DNAJB14, DSPP, EGF, EIF4E, ELF2, ELMOD2, ELOVL6, EMCN, ENAM, ENOPH1, ENPEP, EPGN, EPHA5, EREG, ERVMER34-1, ETNPPL, EXOC1, EXOSC9, FABP2, FAM13A, FAM13A-AS1, FAM241A, FAM47E, FAM47E-STBD1, FAT4, FDCSP, FGF2, FGF5, FIP1L1, FRAS1, G3BP2, GAR1, GC, GIMD1, GK2, GNRHR, GPAT3, GPRIN3, GRID2, GRSF1, GSTCD, GSX2, H2AZ1, HADH, HELQ, HERC3, HERC5, HERC6, HNRNPD, HNRNPDL, HOPX, HPGDS, HPSE, HSD17B11, HSD17B13, HSPA4L, HTN1, HTN3, IBSP, IGFBP7, IL15, IL2, IL21, INPP4B, INTS12, INTU, JADE1, JCHAIN, KDR, KIT, KLHL8, LAMTOR3, LARP1B, LARP7, LEF1, LIN54, LNX1, LRIT3, LRRC66, MAD2L1, MAML3, MANBA, MAPK10, MCUB, MEPE, METAP1, METTL14, MFSD8, MGARP, MGAT4D, MGST2, MIR302A, MIR302B, MIR302C, MIR302D, MIR367, MIR4449, MMRN1, MOB1B, MRPL1, MRPS18C, MTHFD2L, MTTP, MUC7, MYOZ2, NAA11, NAA15, NAAA, NAP1L5, NDNF, NDST3, NDST4, NDUFC1, NEUROG2, NFKB1, NKX6-1, NMU, NOA1, NOCT, NPFFR2, NPNT, NUDT6, NUDT9, NUP54, ODAM, ODAPH, OPRPN, OSTC, PABPC4L, PAICS, PAPSS1, PAQR3, PARM1, PCAT4, PCDH10, PCDH18, PDCL2, PDE5A, PDGFRA, PDHA2, PDLIM5, PF4, PF4V1, PGRMC2, PIGY, PITX2, PKD2, PLA2G12A, PLAC8, PLK4, POLR2B, PPA2, PPAT, PPBP, PPEF2, PPM1K, PPP3CA, PRDM5, PRDM8, PRKG2, PRR27, PRSS12, PTPN13, PYURF, QRFPR, RAB33B, RAP1GDS1, RASGEF1B, RASL11B, RASSF6, RCHY1, REST, RNF150, RPL34, RRH, RUFY3, SCARB2, SCD5, SCFD2, SCLT1, SCOC, SDAD1, SEC24B, SEC24B-AS1, SEC24D, SEC31A, SEPTIN11, SETD7, SGCB, SGMS2, SHROOM3, SLC10A6, SLC25A31, SLC39A8, SLC4A4, SLC7A11, SLC9B1, SLC9B2, SMARCAD1, SMIM43, SMR3A, SMR3B, SNCA, SNHG8, SNORA26, SOWAHB, SPARCL1, SPATA18, SPINK2, SPP1, SPRY1, SRD5A3, SRP72, STAP1, STATH, STBD1, STPG2, SULT1B1, SULT1E1, SYNPO2, TACR3, TBC1D9, TBCK, TECRL, TET2, THAP6, THAP9, THEGL, TIFA, TIGD2, TMEM150C, TMEM165, TMPRSS11A, TMPRSS11B, TMPRSS11D, TMPRSS11E, TMPRSS11F, TNIP3, TRAM1L1, TRMT10A, TRPC3, TSPAN5, UBA6, UBE2D3, UCP1, UGT2A1, UGT2A2, UGT2A3, UGT2B10, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UGT8, UNC5C, USO1, USP46, USP53, UTP3, WDFY3, YTHDC1, ZGRF1, ZNF330 | | not provided | Pathogenic (Apr 1, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr4:94692345-101308220
| RAP1GDS1, UNC5C, ATOH1, ADH1A, TSPAN5, ADH4, ADH1C, TRMT10A, EIF4E, LAMTOR3, ADH1B, H2AZ1, C4orf17, SMARCAD1, DDIT4L, PDHA2, DNAJB14, PDLIM5, ADH5, DAPP1, HPGDS, METAP1, ADH7, STPG2, BMPR1B, MTTP, GRID2, ADH6 | | not provided | Likely pathogenic (Sep 24, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr4:96376995-96828109
| PDHA2, UNC5C | | See cases | Uncertain significance (Jun 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:49450-190963766
| BMPR1B, BOD1L1, BST1, BTC, C1QTNF7, C4orf17, C4orf19, C4orf3, C4orf33, C4orf36, C4orf46, C4orf50, C4orf51, CABS1, CAMK2D, CASP3, CASP6, CBR4, CC2D2A, CCDC110, CCDC149, CCDC158, CCDC96, CCKAR, CCNA2, CCNG2, CCNI, CCSER1, CD38, CDKL2, CDKN2AIP, CDS1, CENPC, CENPE, CENPU, CEP135, CEP44, CFAP299, CFAP96, CFAP97, CFI, CHIC2, CHRNA9, CISD2, CLCN3, CLDN22, CLDN24, CLGN, CLNK, CLOCK, CLRN2, CNGA1, CNOT6L, COL25A1, COMMD8, COPS4, COQ2, CORIN, COX18, COX7B2, CPE, CPEB2, CPLX1, CPZ, CRACD, CRIPAK, CRMP1, CSN1S1, CSN2, CSN3, CTBP1, CTSO, CWH43, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, CXXC4, CYP2U1, CYP4V2, CYTL1, DANCR, DAPP1, DCAF16, DCAF4L1, DCHS2, DCK, DCLK2, DCTD, DCUN1D4, DDIT4L, DDX60, DDX60L, DEFB131A, DGKQ, DHX15, DKK2, DMP1, DNAJB14, DOK7, DRD5, DSPP, DTHD1, EDNRA, EGF, EIF4E, ELF2, ELMOD2, ELOVL6, EMCN, ENAM, ENOPH1, ENPEP, ENPP6, EPGN, EPHA5, EREG, ERVMER34-1, ETFDH, ETNPPL, EVC, EVC2, EXOC1, EXOSC9, F11, FABP2, FAM114A1, FAM13A, FAM13A-AS1, FAM149A, FAM184B, FAM193A, FAM200B, FAM218A, FAM241A, FAM47E, FAM47E-STBD1, FAM53A, FAT1, FAT4, FBXL5, FBXO8, FBXW7, FDCSP, FGA, FGB, FGF2, FGF5, FGFBP1, FGFBP2, FGFR3, FGFRL1, FGG, FHDC1, FHIP1A, FIP1L1, FNIP2, FRAS1, FREM3, FRG1, FRG2, FRYL, FSTL5, G3BP2, GAB1, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GALNT7, GALNTL6, GAR1, GASK1B, GATB, GBA3, GC, GIMD1, GK2, GLRA3, GLRB, GNPDA2, GNRHR, GPAT3, GPM6A, GPR78, GPRIN3, GRIA2, GRID2, GRK4, GRPEL1, GRSF1, GRXCR1, GSTCD, GSX2, GUCY1A1, GUCY1B1, GUF1, GYPA, GYPB, GYPE, H2AZ1, HADH, HAND2, HAUS3, HELQ, HELT, HERC3, HERC5, HERC6, HGFAC, HHIP, HMGB2, HMX1, HNRNPD, HNRNPDL, HOPX, HPF1, HPGD, HPGDS, HPSE, HS3ST1, HSD17B11, HSD17B13, HSPA4L, HTN1, HTN3, HTRA3, HTT, IBSP, IDUA, IGFBP7, IL15, IL2, IL21, ING2, INPP4B, INTS12, INTU, IRF2, JADE1, JAKMIP1, JCHAIN, KCNIP4, KCTD8, KDR, KIAA0232, KIT, KLB, KLF3, KLHL2, KLHL5, KLHL8, KLKB1, LAMTOR3, LAP3, LARP1B, LARP7, LCORL, LDB2, LEF1, LETM1, LGI2, LIAS, LIMCH1, LIN54, LINC01587, LNX1, LOC101928198, LRAT, LRBA, LRIT3, LRP2BP, LRPAP1, LRRC66, LSM6, LYAR, MAB21L2, MAD2L1, MAEA, MAML3, MAN2B2, MANBA, MAP9, MAPK10, MARCHF1, MCUB, MED28, MEPE, METAP1, METTL14, MFAP3L, MFSD10, MFSD8, MGARP, MGAT4D, MGST2, MIR302A, MIR302B, MIR302C, MIR302D, MIR367, MIR4449, MIR95, MMAA, MMRN1, MND1, MOB1B, MRFAP1, MRFAP1L1, MRPL1, MRPS18C, MSANTD1, MSMO1, MSX1, MTHFD2L, MTNR1A, MTTP, MUC7, MXD4, MYL5, MYOZ2, N4BP2, NAA11, NAA15, NAAA, NAF1, NAP1L5, NAT8L, NCAPG, NDNF, NDST3, NDST4, NDUFC1, NEIL3, NEK1, NELFA, NEUROG2, NFKB1, NFXL1, NICOL1, NIPAL1, NKX1-1, NKX3-2, NKX6-1, NMU, NOA1, NOCT, NOP14, NPFFR2, NPNT, NPY1R, NPY2R, NPY5R, NR3C2, NSD2, NSG1, NSUN7, NUDT6, NUDT9, NUP54, NWD2, OCIAD1, OCIAD2, ODAM, ODAPH, OPRPN, OSTC, OTOP1, OTUD4, PABPC4L, PACRGL, PAICS, PALLD, PAPSS1, PAQR3, PARM1, PCAT4, PCDH10, PCDH18, PCDH7, PCGF3, PDCL2, PDE5A, PDE6B, PDGFC, PDGFRA, PDHA2, PDLIM3, PDLIM5, PDS5A, PF4, PF4V1, PGM2, PGRMC2, PHOX2B, PI4K2B, PIGG, PIGY, PITX2, PKD2, PLA2G12A, PLAC8, PLK4, PLRG1, POLN, POLR2B, POU4F2, PPA2, PPARGC1A, PPAT, PPBP, PPEF2, PPID, PPM1K, PPP2R2C, PPP3CA, PRDM5, PRDM8, PRIMPOL, PRKG2, PRMT9, PROM1, PRR27, PRSS12, PRSS48, PSAPL1, PTPN13, PTTG2, PYURF, QDPR, QRFPR, RAB28, RAB33B, RAP1GDS1, RAPGEF2, RASGEF1B, RASL11B, RASSF6, RBM46, RBM47, RBPJ, RCHY1, RELL1, REST, RFC1, RGS12, RHOH, RNF150, RNF175, RNF212, RNF4, RPL34, RPL9, RPS3A, RRH, RUFY3, RWDD4, RXFP1, S100P, SAP30, SCARB2, SCD5, SCFD2, SCLT1, SCOC, SCRG1, SDAD1, SEC24B, SEC24B-AS1, SEC24D, SEC31A, SEL1L3, SEPSECS, SEPTIN11, SETD7, SFRP2, SGCB, SGMS2, SH3BP2, SH3D19, SH3RF1, SH3TC1, SHISA3, SHROOM3, SLAIN2, SLBP, SLC10A4, SLC10A6, SLC10A7, SLC25A31, SLC25A4, SLC26A1, SLC2A9, SLC30A9, SLC34A2, SLC39A8, SLC49A3, SLC4A4, SLC7A11, SLC9B1, SLC9B2, SLIT2, SMAD1, SMARCA5, SMARCAD1, SMIM14, SMIM20, SMIM43, SMR3A, SMR3B, SNCA, SNHG8, SNORA26, SNORD73A, SNX25, SOD3, SORBS2, SORCS2, SOWAHB, SPARCL1, SPATA18, SPATA4, SPCS3, SPINK2, SPMAP2L, SPMIP2, SPOCK3, SPON2, SPP1, SPRY1, SRD5A3, SRP72, STAP1, STATH, STBD1, STIM2, STK32B, STOX2, STPG2, STX18, SULT1B1, SULT1E1, SYNPO2, TACC3, TACR3, TADA2B, TAPT1, TBC1D1, TBC1D14, TBC1D19, TBC1D9, TBCK, TDO2, TEC, TECRL, TENM3, TET2, THAP6, THAP9, TIFA, TIGD2, TIGD4, TKTL2, TLL1, TLR1, TLR10, TLR2, TLR3, TLR6, TMA16, TMEM128, TMEM129, TMEM131L, TMEM144, TMEM150C, TMEM154, TMEM156, TMEM165, TMEM175, TMEM184C, TMEM192, TMEM33, TMPRSS11A, TMPRSS11B, TMPRSS11D, TMPRSS11E, TMPRSS11F, TNIP2, TNIP3, TRAM1L1, TRAPPC11, TRIM2, TRIM60, TRIM61, TRIML1, TRIML2, TRMT10A, TRMT44, TRPC3, TSPAN5, TTC29, TXK, UBA6, UBE2D3, UBE2K, UCHL1, UCP1, UFSP2, UGDH, UGT2A1, UGT2A2, UGT2A3, UGT2B10, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UGT8, UNC5C, USO1, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP38, USP46, USP53, UTP3, UVSSA, VEGFC, WDFY3, WDR1, WDR17, WDR19, WFS1, WWC2, YIPF7, YTHDC1, ZAR1, ZBTB49, ZCCHC4, ZFP42, ZFYVE28, ZGRF1, ZNF141, ZNF330, ZNF518B, ZNF595, ZNF718, ZNF721, ZNF732, ZNF827, AADAT, AASDH, ABCE1, ABCG2, ABHD18, ABLIM2, ABRAXAS1, ACOX3, ACSL1, ADAD1, ADAM29, ADAMTS3, ADD1, ADGRA3, ADGRL3, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, ADRA2C, AFAP1, AFF1, AFG2A, AFM, AFP, AGA, AIMP1, ALB, ALPK1, AMBN, AMTN, ANAPC10, ANAPC4, ANK2, ANKRD17, ANKRD37, ANKRD50, ANP32C, ANTXR2, ANXA10, ANXA3, ANXA5, AP1AR, APBB2, ARAP2, AREG, ARFIP1, ARHGAP10, ARHGAP24, ARHGEF38, ARL9, ARSJ, ART3, ASB5, ASIC5, ATOH1, ATP10D, ATP5ME, ATP8A1, BANK1, BBS12, BBS7, BDH2, BEND4, BLOC1S4, BLTP1, BMP2K, BMP3 | | not provided | Pathogenic (Jan 5, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr4:49450-190915650
| AADAT, AASDH, ABCE1, ABCG2, ABHD18, ABLIM2, ABRAXAS1, ACOX3, ACSL1, ADAD1, ADAM29, ADAMTS3, ADD1, ADGRA3, ADGRL3, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, ADRA2C, AFAP1, AFF1, AFG2A, AFM, AFP, AGA, AIMP1, ALB, ALPK1, AMBN, AMTN, ANAPC10, ANAPC4, ANK2, ANKRD17, ANKRD37, ANKRD50, ANP32C, ANTXR2, ANXA10, ANXA3, ANXA5, AP1AR, APBB2, ARAP2, AREG, ARFIP1, ARHGAP10, ARHGAP24, ARHGEF38, ARL9, ARSJ, ART3, ASB5, ASIC5, ATOH1, ATP10D, ATP5ME, ATP8A1, BANK1, BBS12, BBS7, BDH2, BEND4, BLOC1S4, BLTP1, BMP2K, BMP3, BMPR1B, BOD1L1, BST1, BTC, C1QTNF7, C4orf17, C4orf19, C4orf3, C4orf33, C4orf36, C4orf46, C4orf50, C4orf51, CABS1, CAMK2D, CASP3, CASP6, CBR4, CC2D2A, CCDC110, CCDC149, CCDC158, CCDC96, CCKAR, CCNA2, CCNG2, CCNI, CCSER1, CD38, CDKL2, CDKN2AIP, CDS1, CENPC, CENPE, CENPU, CEP135, CEP44, CFAP299, CFAP96, CFAP97, CFI, CHIC2, CHRNA9, CISD2, CLCN3, CLDN22, CLDN24, CLGN, CLNK, CLOCK, CLRN2, CNGA1, CNOT6L, COL25A1, COMMD8, COPS4, COQ2, CORIN, COX18, COX7B2, CPE, CPEB2, CPLX1, CPZ, CRACD, CRIPAK, CRMP1, CSN1S1, CSN2, CSN3, CTBP1, CTSO, CWH43, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, CXXC4, CYP2U1, CYP4V2, CYTL1, DANCR, DAPP1, DCAF16, DCAF4L1, DCHS2, DCK, DCLK2, DCTD, DCUN1D4, DDIT4L, DDX60, DDX60L, DEFB131A, DGKQ, DHX15, DKK2, DMP1, DNAJB14, DOK7, DRD5, DSPP, DTHD1, EDNRA, EGF, EIF4E, ELF2, ELMOD2, ELOVL6, EMCN, ENAM, ENOPH1, ENPEP, ENPP6, EPGN, EPHA5, EREG, ERVMER34-1, ETFDH, ETNPPL, EVC, EVC2, EXOC1, EXOSC9, F11, FABP2, FAM114A1, FAM13A, FAM13A-AS1, FAM149A, FAM184B, FAM193A, FAM200B, FAM218A, FAM241A, FAM47E, FAM47E-STBD1, FAM53A, FAT1, FAT4, FBXL5, FBXO8, FBXW7, FDCSP, FGA, FGB, FGF2, FGF5, FGFBP1, FGFBP2, FGFR3, FGFRL1, FGG, FHDC1, FHIP1A, FIP1L1, FNIP2, FRAS1, FREM3, FRG1, FRYL, FSTL5, G3BP2, GAB1, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GALNT7, GALNTL6, GAR1, GASK1B, GATB, GBA3, GC, GIMD1, GK2, GLRA3, GLRB, GNPDA2, GNRHR, GPAT3, GPM6A, GPR78, GPRIN3, GRIA2, GRID2, GRK4, GRPEL1, GRSF1, GRXCR1, GSTCD, GSX2, GUCY1A1, GUCY1B1, GUF1, GYPA, GYPB, GYPE, H2AZ1, HADH, HAND2, HAUS3, HELQ, HELT, HERC3, HERC5, HERC6, HGFAC, HHIP, HMGB2, HMX1, HNRNPD, HNRNPDL, HOPX, HPF1, HPGD, HPGDS, HPSE, HS3ST1, HSD17B11, HSD17B13, HSPA4L, HTN1, HTN3, HTRA3, HTT, IBSP, IDUA, IGFBP7, IL15, IL2, IL21, ING2, INPP4B, INTS12, INTU, IRF2, JADE1, JAKMIP1, JCHAIN, KCNIP4, KCTD8, KDR, KIAA0232, KIT, KLB, KLF3, KLHL2, KLHL5, KLHL8, KLKB1, LAMTOR3, LAP3, LARP1B, LARP7, LCORL, LDB2, LEF1, LETM1, LGI2, LIAS, LIMCH1, LIN54, LINC01587, LNX1, LOC101928198, LRAT, LRBA, LRIT3, LRP2BP, LRPAP1, LRRC66, LSM6, LYAR, MAB21L2, MAD2L1, MAEA, MAML3, MAN2B2, MANBA, MAP9, MAPK10, MARCHF1, MCUB, MED28, MEPE, METAP1, METTL14, MFAP3L, MFSD10, MFSD8, MGARP, MGAT4D, MGST2, MIR302A, MIR302B, MIR302C, MIR302D, MIR367, MIR4449, MIR95, MMAA, MMRN1, MND1, MOB1B, MRFAP1, MRFAP1L1, MRPL1, MRPS18C, MSANTD1, MSMO1, MSX1, MTHFD2L, MTNR1A, MTTP, MUC7, MXD4, MYL5, MYOZ2, N4BP2, NAA11, NAA15, NAAA, NAF1, NAP1L5, NAT8L, NCAPG, NDNF, NDST3, NDST4, NDUFC1, NEIL3, NEK1, NELFA, NEUROG2, NFKB1, NFXL1, NICOL1, NIPAL1, NKX1-1, NKX3-2, NKX6-1, NMU, NOA1, NOCT, NOP14, NPFFR2, NPNT, NPY1R, NPY2R, NPY5R, NR3C2, NSD2, NSG1, NSUN7, NUDT6, NUDT9, NUP54, NWD2, OCIAD1, OCIAD2, ODAM, ODAPH, OPRPN, OSTC, OTOP1, OTUD4, PABPC4L, PACRGL, PAICS, PALLD, PAPSS1, PAQR3, PARM1, PCAT4, PCDH10, PCDH18, PCDH7, PCGF3, PDCL2, PDE5A, PDE6B, PDGFC, PDGFRA, PDHA2, PDLIM3, PDLIM5, PDS5A, PF4, PF4V1, PGM2, PGRMC2, PHOX2B, PI4K2B, PIGG, PIGY, PITX2, PKD2, PLA2G12A, PLAC8, PLK4, PLRG1, POLN, POLR2B, POU4F2, PPA2, PPARGC1A, PPAT, PPBP, PPEF2, PPID, PPM1K, PPP2R2C, PPP3CA, PRDM5, PRDM8, PRIMPOL, PRKG2, PRMT9, PROM1, PRR27, PRSS12, PRSS48, PSAPL1, PTPN13, PTTG2, PYURF, QDPR, QRFPR, RAB28, RAB33B, RAP1GDS1, RAPGEF2, RASGEF1B, RASL11B, RASSF6, RBM46, RBM47, RBPJ, RCHY1, RELL1, REST, RFC1, RGS12, RHOH, RNF150, RNF175, RNF212, RNF4, RPL34, RPL9, RPS3A, RRH, RUFY3, RWDD4, RXFP1, S100P, SAP30, SCARB2, SCD5, SCFD2, SCLT1, SCOC, SCRG1, SDAD1, SEC24B, SEC24B-AS1, SEC24D, SEC31A, SEL1L3, SEPSECS, SEPTIN11, SETD7, SFRP2, SGCB, SGMS2, SH3BP2, SH3D19, SH3RF1, SH3TC1, SHISA3, SHROOM3, SLAIN2, SLBP, SLC10A4, SLC10A6, SLC10A7, SLC25A31, SLC25A4, SLC26A1, SLC2A9, SLC30A9, SLC34A2, SLC39A8, SLC49A3, SLC4A4, SLC7A11, SLC9B1, SLC9B2, SLIT2, SMAD1, SMARCA5, SMARCAD1, SMIM14, SMIM20, SMIM43, SMR3A, SMR3B, SNCA, SNHG8, SNORA26, SNORD73A, SNX25, SOD3, SORBS2, SORCS2, SOWAHB, SPARCL1, SPATA18, SPATA4, SPCS3, SPINK2, SPMAP2L, SPMIP2, SPOCK3, SPON2, SPP1, SPRY1, SRD5A3, SRP72, STAP1, STATH, STBD1, STIM2, STK32B, STOX2, STPG2, STX18, SULT1B1, SULT1E1, SYNPO2, TACC3, TACR3, TADA2B, TAPT1, TBC1D1, TBC1D14, TBC1D19, TBC1D9, TBCK, TDO2, TEC, TECRL, TENM3, TET2, THAP6, THAP9, TIFA, TIGD2, TIGD4, TKTL2, TLL1, TLR1, TLR10, TLR2, TLR3, TLR6, TMA16, TMEM128, TMEM129, TMEM131L, TMEM144, TMEM150C, TMEM154, TMEM156, TMEM165, TMEM175, TMEM184C, TMEM192, TMEM33, TMPRSS11A, TMPRSS11B, TMPRSS11D, TMPRSS11E, TMPRSS11F, TNIP2, TNIP3, TRAM1L1, TRAPPC11, TRIM2, TRIM60, TRIM61, TRIML1, TRIML2, TRMT10A, TRMT44, TRPC3, TSPAN5, TTC29, TXK, UBA6, UBE2D3, UBE2K, UCHL1, UCP1, UFSP2, UGDH, UGT2A1, UGT2A2, UGT2A3, UGT2B10, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UGT8, UNC5C, USO1, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP38, USP46, USP53, UTP3, UVSSA, VEGFC, WDFY3, WDR1, WDR17, WDR19, WFS1, WWC2, YIPF7, YTHDC1, ZAR1, ZBTB49, ZCCHC4, ZFP42, ZFYVE28, ZGRF1, ZNF141, ZNF330, ZNF518B, ZNF595, ZNF718, ZNF721, ZNF732, ZNF827 | | not provided | Pathogenic (Oct 31, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr4:11525-191028879
| AADAT, AASDH, ABCE1, ABCG2, ABHD18, ABLIM2, ABRAXAS1, ACOX3, ACSL1, ADAD1, ADAM29, ADAMTS3, ADD1, ADGRA3, ADGRL3, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, ADRA2C, AFAP1, AFF1, AFG2A, AFM, AFP, AGA, AIMP1, ALB, ALPK1, AMBN, AMTN, ANAPC10, ANAPC4, ANK2, ANKRD17, ANKRD37, ANKRD50, ANP32C, ANTXR2, ANXA10, ANXA3, ANXA5, AP1AR, APBB2, ARAP2, AREG, ARFIP1, ARHGAP10, ARHGAP24, ARHGEF38, ARL9, ARSJ, ART3, ASB5, ASIC5, ATOH1, ATP10D, ATP5ME, ATP8A1, BANK1, BBS12, BBS7, BDH2, BEND4, BLOC1S4, BLTP1, BMP2K, BMP3, BMPR1B, BOD1L1, BST1, BTC, C1QTNF7, C4orf17, C4orf19, C4orf3, C4orf33, C4orf36, C4orf46, C4orf50, C4orf51, CABS1, CAMK2D, CASP3, CASP6, CBR4, CC2D2A, CCDC110, CCDC149, CCDC158, CCDC96, CCKAR, CCNA2, CCNG2, CCNI, CCSER1, CD38, CDKL2, CDKN2AIP, CDS1, CENPC, CENPE, CENPU, CEP135, CEP44, CFAP299, CFAP96, CFAP97, CFI, CHIC2, CHRNA9, CISD2, CLCN3, CLDN22, CLDN24, CLGN, CLNK, CLOCK, CLRN2, CNGA1, CNOT6L, COL25A1, COMMD8, COPS4, COQ2, CORIN, COX18, COX7B2, CPE, CPEB2, CPLX1, CPZ, CRACD, CRIPAK, CRMP1, CSN1S1, CSN2, CSN3, CTBP1, CTSO, CWH43, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, CXXC4, CYP2U1, CYP4V2, CYTL1, DANCR, DAPP1, DCAF16, DCAF4L1, DCHS2, DCK, DCLK2, DCTD, DCUN1D4, DDIT4L, DDX60, DDX60L, DEFB131A, DGKQ, DHX15, DKK2, DMP1, DNAJB14, DOK7, DRD5, DSPP, DTHD1, EDNRA, EGF, EIF4E, ELF2, ELMOD2, ELOVL6, EMCN, ENAM, ENOPH1, ENPEP, ENPP6, EPGN, EPHA5, EREG, ERVMER34-1, ETFDH, ETNPPL, EVC, EVC2, EXOC1, EXOSC9, F11, FABP2, FAM114A1, FAM13A, FAM13A-AS1, FAM149A, FAM184B, FAM193A, FAM200B, FAM218A, FAM241A, FAM47E, FAM47E-STBD1, FAM53A, FAT1, FAT4, FBXL5, FBXO8, FBXW7, FDCSP, FGA, FGB, FGF2, FGF5, FGFBP1, FGFBP2, FGFR3, FGFRL1, FGG, FHDC1, FHIP1A, FIP1L1, FNIP2, FRAS1, FREM3, FRG1, FRG2, FRYL, FSTL5, G3BP2, GAB1, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GALNT7, GALNTL6, GAR1, GASK1B, GATB, GBA3, GC, GIMD1, GK2, GLRA3, GLRB, GNPDA2, GNRHR, GPAT3, GPM6A, GPR78, GPRIN3, GRIA2, GRID2, GRK4, GRPEL1, GRSF1, GRXCR1, GSTCD, GSX2, GUCY1A1, GUCY1B1, GUF1, GYPA, GYPB, GYPE, H2AZ1, HADH, HAND2, HAUS3, HELQ, HELT, HERC3, HERC5, HERC6, HGFAC, HHIP, HMGB2, HMX1, HNRNPD, HNRNPDL, HOPX, HPF1, HPGD, HPGDS, HPSE, HS3ST1, HSD17B11, HSD17B13, HSPA4L, HTN1, HTN3, HTRA3, HTT, IBSP, IDUA, IGFBP7, IL15, IL2, IL21, ING2, INPP4B, INTS12, INTU, IRF2, JADE1, JAKMIP1, JCHAIN, KCNIP4, KCTD8, KDR, KIAA0232, KIT, KLB, KLF3, KLHL2, KLHL5, KLHL8, KLKB1, LAMTOR3, LAP3, LARP1B, LARP7, LCORL, LDB2, LEF1, LETM1, LGI2, LIAS, LIMCH1, LIN54, LINC01587, LNX1, LOC101928198, LRAT, LRBA, LRIT3, LRP2BP, LRPAP1, LRRC66, LSM6, LYAR, MAB21L2, MAD2L1, MAEA, MAML3, MAN2B2, MANBA, MAP9, MAPK10, MARCHF1, MCUB, MED28, MEPE, METAP1, METTL14, MFAP3L, MFSD10, MFSD8, MGARP, MGAT4D, MGST2, MIR302A, MIR302B, MIR302C, MIR302D, MIR367, MIR4449, MIR95, MMAA, MMRN1, MND1, MOB1B, MRFAP1, MRFAP1L1, MRPL1, MRPS18C, MSANTD1, MSMO1, MSX1, MTHFD2L, MTNR1A, MTTP, MUC7, MXD4, MYL5, MYOZ2, N4BP2, NAA11, NAA15, NAAA, NAF1, NAP1L5, NAT8L, NCAPG, NDNF, NDST3, NDST4, NDUFC1, NEIL3, NEK1, NELFA, NEUROG2, NFKB1, NFXL1, NICOL1, NIPAL1, NKX1-1, NKX3-2, NKX6-1, NMU, NOA1, NOCT, NOP14, NPFFR2, NPNT, NPY1R, NPY2R, NPY5R, NR3C2, NSD2, NSG1, NSUN7, NUDT6, NUDT9, NUP54, NWD2, OCIAD1, OCIAD2, ODAM, ODAPH, OPRPN, OSTC, OTOP1, OTUD4, PABPC4L, PACRGL, PAICS, PALLD, PAPSS1, PAQR3, PARM1, PCAT4, PCDH10, PCDH18, PCDH7, PCGF3, PDCL2, PDE5A, PDE6B, PDGFC, PDGFRA, PDHA2, PDLIM3, PDLIM5, PDS5A, PF4, PF4V1, PGM2, PGRMC2, PHOX2B, PI4K2B, PIGG, PIGY, PITX2, PKD2, PLA2G12A, PLAC8, PLK4, PLRG1, POLN, POLR2B, POU4F2, PPA2, PPARGC1A, PPAT, PPBP, PPEF2, PPID, PPM1K, PPP2R2C, PPP3CA, PRDM5, PRDM8, PRIMPOL, PRKG2, PRMT9, PROM1, PRR27, PRSS12, PRSS48, PSAPL1, PTPN13, PTTG2, PYURF, QDPR, QRFPR, RAB28, RAB33B, RAP1GDS1, RAPGEF2, RASGEF1B, RASL11B, RASSF6, RBM46, RBM47, RBPJ, RCHY1, RELL1, REST, RFC1, RGS12, RHOH, RNF150, RNF175, RNF212, RNF4, RPL34, RPL9, RPS3A, RRH, RUFY3, RWDD4, RXFP1, S100P, SAP30, SCARB2, SCD5, SCFD2, SCLT1, SCOC, SCRG1, SDAD1, SEC24B, SEC24B-AS1, SEC24D, SEC31A, SEL1L3, SEPSECS, SEPTIN11, SETD7, SFRP2, SGCB, SGMS2, SH3BP2, SH3D19, SH3RF1, SH3TC1, SHISA3, SHROOM3, SLAIN2, SLBP, SLC10A4, SLC10A6, SLC10A7, SLC25A31, SLC25A4, SLC26A1, SLC2A9, SLC30A9, SLC34A2, SLC39A8, SLC49A3, SLC4A4, SLC7A11, SLC9B1, SLC9B2, SLIT2, SMAD1, SMARCA5, SMARCAD1, SMIM14, SMIM20, SMIM43, SMR3A, SMR3B, SNCA, SNHG8, SNORA26, SNORD73A, SNX25, SOD3, SORBS2, SORCS2, SOWAHB, SPARCL1, SPATA18, SPATA4, SPCS3, SPINK2, SPMAP2L, SPMIP2, SPOCK3, SPON2, SPP1, SPRY1, SRD5A3, SRP72, STAP1, STATH, STBD1, STIM2, STK32B, STOX2, STPG2, STX18, SULT1B1, SULT1E1, SYNPO2, TACC3, TACR3, TADA2B, TAPT1, TBC1D1, TBC1D14, TBC1D19, TBC1D9, TBCK, TDO2, TEC, TECRL, TENM3, TET2, THAP6, THAP9, TIFA, TIGD2, TIGD4, TKTL2, TLL1, TLR1, TLR10, TLR2, TLR3, TLR6, TMA16, TMEM128, TMEM129, TMEM131L, TMEM144, TMEM150C, TMEM154, TMEM156, TMEM165, TMEM175, TMEM184C, TMEM192, TMEM33, TMPRSS11A, TMPRSS11B, TMPRSS11D, TMPRSS11E, TMPRSS11F, TNIP2, TNIP3, TRAM1L1, TRAPPC11, TRIM2, TRIM60, TRIM61, TRIML1, TRIML2, TRMT10A, TRMT44, TRPC3, TSPAN5, TTC29, TXK, UBA6, UBE2D3, UBE2K, UCHL1, UCP1, UFSP2, UGDH, UGT2A1, UGT2A2, UGT2A3, UGT2B10, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UGT8, UNC5C, USO1, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP38, USP46, USP53, UTP3, UVSSA, VEGFC, WDFY3, WDR1, WDR17, WDR19, WFS1, WWC2, YIPF7, YTHDC1, ZAR1, ZBTB49, ZCCHC4, ZFP42, ZFYVE28, ZGRF1, ZNF141, ZNF330, ZNF518B, ZNF595, ZNF718, ZNF721, ZNF732, ZNF827 | | not provided | Pathogenic (Jan 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr4:90005204-96971785
| CCSER1, UNC5C, PDHA2, SNCA, MMRN1, SMARCAD1, GPRIN3, GRID2, HPGDS, PDLIM5, TIGD2, BMPR1B, ATOH1 | | not provided | Pathogenic (Feb 19, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr4:89891197-98235479
| ATOH1, BMPR1B, CCSER1, FAM13A, GPRIN3, GRID2, HPGDS, MMRN1, PDHA2, PDLIM5, SMARCAD1, SNCA, TIGD2, UNC5C | | See cases | Likely pathogenic (Nov 12, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr4:93071152-190957473
| AADAT, ABCE1, ABHD18, ACSL1, ADAD1, ADAM29, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, AFG2A, AGA, AIMP1, ALPK1, ANAPC10, ANK2, ANKRD37, ANKRD50, ANP32C, ANXA10, ANXA5, AP1AR, ARFIP1, ARHGAP10, ARHGEF38, ARSJ, ASB5, ASIC5, ATOH1, BANK1, BBS12, BBS7, BDH2, BLTP1, BMPR1B, C4orf17, C4orf3, C4orf33, C4orf46, C4orf51, CAMK2D, CASP3, CASP6, CBR4, CCDC110, CCNA2, CDKN2AIP, CENPE, CENPU, CEP44, CFAP96, CFAP97, CFI, CISD2, CLCN3, CLDN22, CLDN24, CLGN, COL25A1, CPE, CTSO, CXXC4, CYP2U1, CYP4V2, DAPP1, DCHS2, DCLK2, DCTD, DDIT4L, DDX60, DDX60L, DKK2, DNAJB14, EDNRA, EGF, EIF4E, ELF2, ELMOD2, ELOVL6, EMCN, ENPEP, ENPP6, ETFDH, ETNPPL, EXOSC9, F11, FABP2, FAM149A, FAM218A, FAM241A, FAT1, FAT4, FBXO8, FBXW7, FGA, FGB, FGF2, FGG, FHDC1, FHIP1A, FNIP2, FREM3, FRG1, FRG2, FSTL5, GAB1, GALNT7, GALNTL6, GAR1, GASK1B, GATB, GIMD1, GLRA3, GLRB, GPM6A, GRIA2, GRID2, GSTCD, GUCY1A1, GUCY1B1, GYPA, GYPB, GYPE, H2AZ1, HADH, HAND2, HELT, HHIP, HMGB2, HPF1, HPGD, HPGDS, HSPA4L, IL15, IL2, IL21, ING2, INPP4B, INTS12, INTU, IRF2, JADE1, KLHL2, KLKB1, LAMTOR3, LARP1B, LARP7, LEF1, LOC101928198, LRAT, LRBA, LRIT3, LRP2BP, LSM6, MAB21L2, MAD2L1, MAML3, MANBA, MAP9, MARCHF1, MCUB, METAP1, METTL14, MFAP3L, MFSD8, MGARP, MGAT4D, MGST2, MIR302A, MIR302B, MIR302C, MIR302D, MIR367, MMAA, MND1, MSMO1, MTNR1A, MTTP, MYOZ2, NAA15, NAF1, NDNF, NDST3, NDST4, NDUFC1, NEIL3, NEK1, NEUROG2, NFKB1, NOCT, NPNT, NPY1R, NPY2R, NPY5R, NR3C2, NUDT6, OSTC, OTUD4, PABPC4L, PALLD, PAPSS1, PCDH10, PCDH18, PDE5A, PDGFC, PDHA2, PDLIM3, PDLIM5, PGRMC2, PITX2, PLA2G12A, PLK4, PLRG1, POU4F2, PPA2, PPID, PPP3CA, PRDM5, PRIMPOL, PRMT9, PRSS12, PRSS48, QRFPR, RAB33B, RAP1GDS1, RAPGEF2, RBM46, RNF150, RNF175, RPL34, RPS3A, RRH, RWDD4, RXFP1, SAP30, SCLT1, SCOC, SCRG1, SEC24B, SEC24B-AS1, SEC24D, SETD7, SFRP2, SGMS2, SH3D19, SH3RF1, SLC10A7, SLC25A31, SLC25A4, SLC39A8, SLC7A11, SLC9B1, SLC9B2, SMAD1, SMARCA5, SMARCAD1, SMIM43, SNHG8, SNORD73A, SNX25, SORBS2, SPATA4, SPCS3, SPMIP2, SPOCK3, SPRY1, STOX2, STPG2, SYNPO2, TACR3, TBC1D9, TBCK, TDO2, TENM3, TET2, TIFA, TIGD4, TKTL2, TLL1, TLR2, TLR3, TMA16, TMEM131L, TMEM144, TMEM154, TMEM184C, TMEM192, TNIP3, TRAM1L1, TRAPPC11, TRIM2, TRIM60, TRIM61, TRIML1, TRIML2, TRMT10A, TRPC3, TSPAN5, TTC29, UBE2D3, UCP1, UFSP2, UGT8, UNC5C, USP38, USP53, VEGFC, WDR17, WWC2, ZFP42, ZGRF1, ZNF330, ZNF827 | | See cases | Pathogenic (May 5, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr4:92201567-103043808
| ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, ATOH1, BANK1, BMPR1B, C4orf17, CCSER1, DAPP1, DDIT4L, DNAJB14, EIF4E, EMCN, GRID2, H2AZ1, HPGDS, LAMTOR3, METAP1, MTTP, PDHA2, PDLIM5, PPP3CA, RAP1GDS1, SMARCAD1, STPG2, TRMT10A, TSPAN5, UNC5C | | See cases | Pathogenic (Feb 29, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr4:68346-190957473
| AADAT, AASDH, ABCE1, ABCG2, ABHD18, ABLIM2, ABRAXAS1, ACOX3, ACSL1, ADAD1, ADAM29, ADAMTS3, ADD1, ADGRA3, ADGRL3, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, ADRA2C, AFAP1, AFF1, AFG2A, AFM, AFP, AGA, AIMP1, ALB, ALPK1, AMBN, AMTN, ANAPC10, ANAPC4, ANK2, ANKRD17, ANKRD37, ANKRD50, ANP32C, ANTXR2, ANXA10, ANXA3, ANXA5, AP1AR, APBB2, ARAP2, AREG, ARFIP1, ARHGAP10, ARHGAP24, ARHGEF38, ARL9, ARSJ, ART3, ASB5, ASIC5, ATOH1, ATP10D, ATP5ME, ATP8A1, BANK1, BBS12, BBS7, BDH2, BEND4, BLOC1S4, BLTP1, BMP2K, BMP3, BMPR1B, BOD1L1, BST1, BTC, C1QTNF7, C4orf17, C4orf19, C4orf3, C4orf33, C4orf36, C4orf46, C4orf50, C4orf51, CABS1, CAMK2D, CASP3, CASP6, CBR4, CC2D2A, CCDC110, CCDC149, CCDC158, CCDC96, CCKAR, CCNA2, CCNG2, CCNI, CCSER1, CD38, CDKL2, CDKN2AIP, CDS1, CENPC, CENPE, CENPU, CEP135, CEP44, CFAP299, CFAP96, CFAP97, CFI, CHIC2, CHRNA9, CISD2, CLCN3, CLDN22, CLDN24, CLGN, CLNK, CLOCK, CLRN2, CNGA1, CNOT6L, COL25A1, COMMD8, COPS4, COQ2, CORIN, COX18, COX7B2, CPE, CPEB2, CPLX1, CPZ, CRACD, CRIPAK, CRMP1, CSN1S1, CSN2, CSN3, CTBP1, CTSO, CWH43, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, CXXC4, CYP2U1, CYP4V2, CYTL1, DANCR, DAPP1, DCAF16, DCAF4L1, DCHS2, DCK, DCLK2, DCTD, DCUN1D4, DDIT4L, DDX60, DDX60L, DEFB131A, DGKQ, DHX15, DKK2, DMP1, DNAJB14, DOK7, DRD5, DSPP, DTHD1, EDNRA, EGF, EIF4E, ELF2, ELMOD2, ELOVL6, EMCN, ENAM, ENOPH1, ENPEP, ENPP6, EPGN, EPHA5, EREG, ERVMER34-1, ETFDH, ETNPPL, EVC, EVC2, EXOC1, EXOSC9, F11, FABP2, FAM114A1, FAM13A, FAM13A-AS1, FAM149A, FAM184B, FAM193A, FAM200B, FAM218A, FAM241A, FAM47E, FAM47E-STBD1, FAM53A, FAT1, FAT4, FBXL5, FBXO8, FBXW7, FDCSP, FGA, FGB, FGF2, FGF5, FGFBP1, FGFBP2, FGFR3, FGFRL1, FGG, FHDC1, FHIP1A, FIP1L1, FNIP2, FRAS1, FREM3, FRG1, FRG2, FRYL, FSTL5, G3BP2, GAB1, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GALNT7, GALNTL6, GAR1, GASK1B, GATB, GBA3, GC, GIMD1, GK2, GLRA3, GLRB, GNPDA2, GNRHR, GPAT3, GPM6A, GPR78, GPRIN3, GRIA2, GRID2, GRK4, GRPEL1, GRSF1, GRXCR1, GSTCD, GSX2, GUCY1A1, GUCY1B1, GUF1, GYPA, GYPB, GYPE, H2AZ1, HADH, HAND2, HAUS3, HELQ, HELT, HERC3, HERC5, HERC6, HGFAC, HHIP, HMGB2, HMX1, HNRNPD, HNRNPDL, HOPX, HPF1, HPGD, HPGDS, HPSE, HS3ST1, HSD17B11, HSD17B13, HSPA4L, HTN1, HTN3, HTRA3, HTT, IBSP, IDUA, IGFBP7, IL15, IL2, IL21, ING2, INPP4B, INTS12, INTU, IRF2, JADE1, JAKMIP1, JCHAIN, KCNIP4, KCTD8, KDR, KIAA0232, KIT, KLB, KLF3, KLHL2, KLHL5, KLHL8, KLKB1, LAMTOR3, LAP3, LARP1B, LARP7, LCORL, LDB2, LEF1, LETM1, LGI2, LIAS, LIMCH1, LIN54, LINC01587, LNX1, LOC101928198, LRAT, LRBA, LRIT3, LRP2BP, LRPAP1, LRRC66, LSM6, LYAR, MAB21L2, MAD2L1, MAEA, MAML3, MAN2B2, MANBA, MAP9, MAPK10, MARCHF1, MCUB, MED28, MEPE, METAP1, METTL14, MFAP3L, MFSD10, MFSD8, MGARP, MGAT4D, MGST2, MIR302A, MIR302B, MIR302C, MIR302D, MIR367, MIR4449, MIR95, MMAA, MMRN1, MND1, MOB1B, MRFAP1, MRFAP1L1, MRPL1, MRPS18C, MSANTD1, MSMO1, MSX1, MTHFD2L, MTNR1A, MTTP, MUC7, MXD4, MYL5, MYOZ2, N4BP2, NAA11, NAA15, NAAA, NAF1, NAP1L5, NAT8L, NCAPG, NDNF, NDST3, NDST4, NDUFC1, NEIL3, NEK1, NELFA, NEUROG2, NFKB1, NFXL1, NICOL1, NIPAL1, NKX1-1, NKX3-2, NKX6-1, NMU, NOA1, NOCT, NOP14, NPFFR2, NPNT, NPY1R, NPY2R, NPY5R, NR3C2, NSD2, NSG1, NSUN7, NUDT6, NUDT9, NUP54, NWD2, OCIAD1, OCIAD2, ODAM, ODAPH, OPRPN, OSTC, OTOP1, OTUD4, PABPC4L, PACRGL, PAICS, PALLD, PAPSS1, PAQR3, PARM1, PCAT4, PCDH10, PCDH18, PCDH7, PCGF3, PDCL2, PDE5A, PDE6B, PDGFC, PDGFRA, PDHA2, PDLIM3, PDLIM5, PDS5A, PF4, PF4V1, PGM2, PGRMC2, PHOX2B, PI4K2B, PIGG, PIGY, PITX2, PKD2, PLA2G12A, PLAC8, PLK4, PLRG1, POLN, POLR2B, POU4F2, PPA2, PPARGC1A, PPAT, PPBP, PPEF2, PPID, PPM1K, PPP2R2C, PPP3CA, PRDM5, PRDM8, PRIMPOL, PRKG2, PRMT9, PROM1, PRR27, PRSS12, PRSS48, PSAPL1, PTPN13, PTTG2, PYURF, QDPR, QRFPR, RAB28, RAB33B, RAP1GDS1, RAPGEF2, RASGEF1B, RASL11B, RASSF6, RBM46, RBM47, RBPJ, RCHY1, RELL1, REST, RFC1, RGS12, RHOH, RNF150, RNF175, RNF212, RNF4, RPL34, RPL9, RPS3A, RRH, RUFY3, RWDD4, RXFP1, S100P, SAP30, SCARB2, SCD5, SCFD2, SCLT1, SCOC, SCRG1, SDAD1, SEC24B, SEC24B-AS1, SEC24D, SEC31A, SEL1L3, SEPSECS, SEPTIN11, SETD7, SFRP2, SGCB, SGMS2, SH3BP2, SH3D19, SH3RF1, SH3TC1, SHISA3, SHROOM3, SLAIN2, SLBP, SLC10A4, SLC10A6, SLC10A7, SLC25A31, SLC25A4, SLC26A1, SLC2A9, SLC30A9, SLC34A2, SLC39A8, SLC49A3, SLC4A4, SLC7A11, SLC9B1, SLC9B2, SLIT2, SMAD1, SMARCA5, SMARCAD1, SMIM14, SMIM20, SMIM43, SMR3A, SMR3B, SNCA, SNHG8, SNORA26, SNORD73A, SNX25, SOD3, SORBS2, SORCS2, SOWAHB, SPARCL1, SPATA18, SPATA4, SPCS3, SPINK2, SPMAP2L, SPMIP2, SPOCK3, SPON2, SPP1, SPRY1, SRD5A3, SRP72, STAP1, STATH, STBD1, STIM2, STK32B, STOX2, STPG2, STX18, SULT1B1, SULT1E1, SYNPO2, TACC3, TACR3, TADA2B, TAPT1, TBC1D1, TBC1D14, TBC1D19, TBC1D9, TBCK, TDO2, TEC, TECRL, TENM3, TET2, THAP6, THAP9, TIFA, TIGD2, TIGD4, TKTL2, TLL1, TLR1, TLR10, TLR2, TLR3, TLR6, TMA16, TMEM128, TMEM129, TMEM131L, TMEM144, TMEM150C, TMEM154, TMEM156, TMEM165, TMEM175, TMEM184C, TMEM192, TMEM33, TMPRSS11A, TMPRSS11B, TMPRSS11D, TMPRSS11E, TMPRSS11F, TNIP2, TNIP3, TRAM1L1, TRAPPC11, TRIM2, TRIM60, TRIM61, TRIML1, TRIML2, TRMT10A, TRMT44, TRPC3, TSPAN5, TTC29, TXK, UBA6, UBE2D3, UBE2K, UCHL1, UCP1, UFSP2, UGDH, UGT2A1, UGT2A2, UGT2A3, UGT2B10, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UGT8, UNC5C, USO1, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP38, USP46, USP53, UTP3, UVSSA, VEGFC, WDFY3, WDR1, WDR17, WDR19, WFS1, WWC2, YIPF7, YTHDC1, ZAR1, ZBTB49, ZCCHC4, ZFP42, ZFYVE28, ZGRF1, ZNF141, ZNF330, ZNF518B, ZNF595, ZNF718, ZNF721, ZNF732, ZNF827 | | See cases | Pathogenic (Jul 14, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:68346-190957473
| SCRG1, SDAD1, SMIM20, TBC1D9, TBCK, TDO2, TRMT10A, TRMT44, USP53, UTP3, UVSSA, VEGFC, WDFY3, UGT2A1, UGT2A2, UGT2A3, UGT2B10, UBE2D3, UBE2K, TXK, UBA6, TLL1, TLR1, TLR10, TENM3, TEC, TECRL, TET2, THAP6, THAP9, TIFA, TIGD2, TRPC3, TSPAN5, TTC29, UCHL1, SMIM43, SOD3, SORBS2, SORCS2, SOWAHB, SPARCL1, SMR3A, SMR3B, SNCA, SNHG8, SNORA26, SNORD73A, SNX25, UCP1, UFSP2, UGDH, TIGD4, TKTL2, SEC24B, SEC31A, SEL1L3, SETD7, SFRP2, SEC24D, SEPSECS, SEPTIN11, SEC24B-AS1, RXFP1, S100P, SAP30, SCARB2, SCD5, SCFD2, SCLT1, SCOC, SGCB, SGMS2, SH3BP2, SH3D19, SH3RF1, SH3TC1, SHISA3, SHROOM3, SLAIN2, SLBP, SLC10A4, SLC10A6, SLC10A7, SLC25A31, SLC25A4, SLC26A1, SLC2A9, SLC30A9, SLC34A2, SLC39A8, SLC49A3, SLC4A4, SLC7A11, SLC9B1, SLC9B2, SLIT2, SMAD1, SMARCA5, SMARCAD1, SMIM14, SPATA18, SPATA4, SPCS3, SPINK2, SPMAP2L, SPMIP2, SPOCK3, SPON2, SPP1, SPRY1, SRD5A3, SRP72, STAP1, STATH, STBD1, STIM2, STK32B, STOX2, STPG2, STX18, SULT1B1, SULT1E1, SYNPO2, TACC3, TACR3, TADA2B, TAPT1, TBC1D1, TBC1D14, TBC1D19, TLR2, TLR3, TLR6, TMA16, TMEM128, TMEM129, TMEM131L, TMEM144, TMEM150C, TMEM154, TMEM156, TMEM165, TMEM175, TMEM184C, TMEM192, TMEM33, TMPRSS11A, TMPRSS11B, TMPRSS11D, TMPRSS11E, TMPRSS11F, TNIP2, TNIP3, TRAM1L1, TRAPPC11, TRIM2, TRIM60, TRIM61, TRIML1, TRIML2, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UGT8, UNC5C, USO1, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP38, USP46, WDR1, WDR17, WDR19, WFS1, WWC2, YIPF7, YTHDC1, ZAR1, ZBTB49, ZCCHC4, ZFP42, ZFYVE28, ZGRF1, ZNF141, ZNF330, ZNF518B, ZNF595, ZNF718, ZNF721, ZNF732, ZNF827, AADAT, AASDH, ABCE1, ABCG2, ABHD18, ABLIM2, ABRAXAS1, ACOX3, ACSL1, ADAD1, ADAM29, ADAMTS3, ADD1, ADGRA3, ADGRL3, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, ADRA2C, AFAP1, AFF1, AFG2A, AFM, AFP, AGA, AIMP1, ALB, ALPK1, AMBN, AMTN, ANAPC10, ANAPC4, ANK2, ANKRD17, ANKRD37, ANKRD50, ANP32C, ANTXR2, ANXA10, ANXA3, ANXA5, AP1AR, APBB2, ARAP2, AREG, ARFIP1, ARHGAP10, ARHGAP24, ARHGEF38, ARL9, ARSJ, ART3, ASB5, ASIC5, ATOH1, ATP10D, ATP5ME, ATP8A1, BANK1, BBS12, BBS7, BDH2, BEND4, BLOC1S4, BLTP1, BMP2K, BMP3, BMPR1B, BOD1L1, BST1, BTC, C1QTNF7, C4orf17, C4orf19, C4orf3, C4orf33, C4orf36, C4orf46, C4orf50, C4orf51, CABS1, CAMK2D, CASP3, CASP6, CBR4, CC2D2A, CCDC110, CCDC149, CCDC158, CCDC96, CCKAR, CCNA2, CCNG2, CCNI, CCSER1, CD38, CDKL2, CDKN2AIP, CDS1, CENPC, CENPE, CENPU, CEP135, CEP44, CFAP299, CFAP96, CFAP97, CFI, CHIC2, CHRNA9, CISD2, CLCN3, CLDN22, CLDN24, CLGN, CLNK, CLOCK, CLRN2, CNGA1, CNOT6L, COL25A1, COMMD8, COPS4, COQ2, CORIN, COX18, COX7B2, CPE, CPEB2, CPLX1, CPZ, CRACD, CRIPAK, CRMP1, CSN1S1, CSN2, CSN3, CTBP1, CTSO, CWH43, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, CXXC4, CYP2U1, CYP4V2, CYTL1, DANCR, |