| - 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 |
| - GRCh37:
- Chr4:69551806-96215607
- GRCh38:
- Chr4:68686088-95294456
| 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, MAPK10, MAPK10-AS1, MEPE, MIR4450, MIR4451, MIR4452, MIR548AH, MIR5705, MIR575, MMRN1, MOB1B, MRPL1, MRPS18C, MTHFD2L, MUC7, NAA11, NAAA, NAP1L5, NKX6-1, NPFFR2, NUDT9, NUP54, ODAM, ODAPH, OPRPN, PAQR3, PARM1, PARM1-AS1, PCAT4, PDLIM5, PF4, PF4V1, PIGY, PIGY-DT, PKD2, PLAC8, PPBP, PPEF2, PPM1K, PPM1K-DT, PRDM8, PRDM8-AS1, PRKG2, PRKG2-AS1, PRR27, PTPN13, PYURF, RASGEF1B, RASSF6, RCHY1, RUFY3, SCARB2, SCD5, SCPPPQ1, SDAD1, SDAD1-AS1, SEC31A, SEPTIN11, SHROOM3, SHROOM3-AS1, SLC10A6, SLC4A4, SMARCAD1, SMARCAD1-DT, SMR3A, SMR3B, SNCA, SNCA-AS1, SNORD143, SNORD144, SNORD161, SOWAHB, SPARCL1, SPP1, STATH, STBD1, SULT1B1, SULT1E1, THAP6, THAP9, THAP9-AS1, TIGD2, TMEM150C, UGT2A1, UGT2A2, UGT2A3, UGT2B10, UGT2B11, UGT2B28, UGT2B4, UGT2B7, UMLILO, UNC5C, USO1, UTP3, WDFY3, WDFY3-AS1, WDFY3-AS2, ABCG2, ABRAXAS1, ADAMTS3, AFF1, AFF1-AS1, AFM, AFP, ALB, AMBN, AMTN, ANKRD17, ANKRD17-DT, ANTXR2, ANXA3, AREG, ARHGAP24, ART3, ATOH1, BMP2K, BMP2K-DT, BMP3, BMPR1B, BMPR1B-DT, BTC, C4orf36, CABS1, CCDC158, CCNG2, CCNI, CCSER1, CDKL2, CDS1, CFAP299, CNOT6L, COPS4, COQ2, COX18, CSN1S1, CSN2, CSN3, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, DCK, DMP1, DSPP, ENAM, ENOPH1, EPGN, EREG, FAM13A, FAM13A-AS1, FAM47E, FAM47E-STBD1, FDCSP, FGF5, FRAS1, G3BP2, GC, GK2, GPAT3, GPRIN3, GRID2, GRSF1, HELQ, HERC3, HERC5, HERC6, HNRNPD, HNRNPD-DT, HNRNPDL, HPGDS, HPSE, HSD17B11, HSD17B13, HTN1, HTN3, IBSP, INKILN, JCHAIN, KLHL8, LIN54, LINC00575, LINC00989, LINC01088, LINC01094, LINC02483, LINC02499, LINC02562, LINC02994, LNCPRESS2, LOC101928893, LOC105377267, LOC105377276, LOC107988048, LOC110120743, LOC110120752, LOC110121083, LOC110121104, LOC110283621, LOC110351180, LOC111365205, LOC111589210, LOC111591506, LOC111828520, LOC111832670, LOC111832671, LOC112978669, LOC112978670, LOC112978671, LOC112997534, LOC112997535, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC112997542, LOC112997543, LOC112997544, LOC112997545, LOC112997546, LOC112997547, LOC114803476, LOC114827842, LOC116158494, LOC116158495, LOC116158496, LOC116158497, LOC116158498, LOC116158499, LOC116158500, LOC116158501, LOC116158502, LOC116158503, LOC121053184, LOC121053185, LOC121053186, LOC121053187, LOC121053188, LOC121725172, LOC121725173, LOC121725174, LOC121725175, LOC121725176, LOC121725177, LOC121725178, 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, 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, LOC129389214, LOC129389215, LOC129389216, LOC129389217, LOC129389218, LOC129389219, LOC129389220, LOC129389221, LOC129389222, LOC129389223, LOC129389224, LOC129389225, 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 | | See cases | Pathogenic (Jun 11, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr4:73127975-86923300
- GRCh38:
- Chr4:72262258-86002147
| ABRAXAS1, ADAMTS3, AFM, AFP, ALB, ANKRD17, ANKRD17-DT, ANTXR2, ANXA3, AREG, ARHGAP24, ART3, BMP2K, BMP2K-DT, BMP3, BTC, CCDC158, CCNG2, CCNI, CDKL2, CDS1, CFAP299, CNOT6L, COPS4, COQ2, COX18, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, ENOPH1, EPGN, EREG, FAM47E, FAM47E-STBD1, FGF5, FRAS1, G3BP2, GK2, GPAT3, HELQ, HNRNPD, HNRNPD-DT, HNRNPDL, HPSE, INKILN, LIN54, LINC00575, LINC00989, LINC01088, LINC01094, LINC02483, LINC02499, LINC02562, LINC02994, LOC101928893, LOC105377276, LOC107988048, LOC110120743, LOC110120752, LOC111591506, LOC111828520, LOC111832670, LOC111832671, LOC112978671, LOC112997534, LOC112997535, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC112997542, LOC112997543, LOC112997544, LOC112997545, LOC116158494, LOC116158495, LOC116158496, LOC116158497, LOC116158498, LOC116158499, LOC116158500, LOC116158501, LOC116158502, LOC116158503, LOC121053184, LOC121053185, LOC121053186, LOC121053187, LOC121725172, LOC121725173, LOC121725174, LOC121725175, LOC123477756, LOC123477757, LOC123477758, LOC123477759, LOC123477760, LOC123477761, LOC123477762, LOC123477763, LOC123477764, LOC123477765, LOC123477766, LOC123477767, LOC123477768, LOC123477769, LOC123477770, LOC123477771, LOC123477772, LOC123477773, LOC123477774, LOC123477775, LOC123477776, LOC123477777, 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, LOC129389219, LOC129389220, LOC129389221, LOC129389222, LOC129389223, LOC129389224, 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, MIR4450, MIR4451, MIR548AH, MIR575, MRPL1, MRPS18C, MTHFD2L, NAA11, NAAA, NKX6-1, NUP54, ODAPH, PAQR3, PARM1, PARM1-AS1, PCAT4, PF4, PF4V1, PLAC8, PPBP, PPEF2, PRDM8, PRDM8-AS1, PRKG2, PRKG2-AS1, RASGEF1B, RASSF6, RCHY1, SCARB2, SCD5, SDAD1, SDAD1-AS1, SEC31A, SEPTIN11, SHROOM3, SHROOM3-AS1, SNORD143, SNORD144, SNORD161, SOWAHB, STBD1, THAP6, THAP9, THAP9-AS1, TMEM150C, UMLILO, USO1, WDFY3, WDFY3-AS1, WDFY3-AS2 | | See cases | Pathogenic (Apr 23, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr4:76378321-85015448
- GRCh38:
- Chr4:75453111-84094295
| 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, MIR4450, MIR548AH, MIR575, MRPL1, MRPS18C, NAA11, NAAA, NUP54, ODAPH, PAQR3, PCAT4, PLAC8, PPEF2, PRDM8, PRDM8-AS1, PRKG2, PRKG2-AS1, RASGEF1B, RCHY1, SCARB2, SCD5, SDAD1, SDAD1-AS1, SEC31A, SEPTIN11, SHROOM3, SHROOM3-AS1, SNORD143, SNORD144, SNORD161, SOWAHB, STBD1, THAP6, THAP9, THAP9-AS1, TMEM150C, USO1, ABRAXAS1, ANTXR2, ANXA3, ART3, BMP2K, BMP2K-DT, BMP3, CCDC158, CCNG2, CCNI, CDKL2, CFAP299, CNOT6L, COPS4, COQ2, CXCL10, CXCL11, CXCL13, CXCL9, ENOPH1, FAM47E, FAM47E-STBD1, FGF5, FRAS1, G3BP2, GK2, GPAT3, HELQ, HNRNPD, HNRNPD-DT, HNRNPDL, HPSE, LIN54, LINC00575, LINC00989, LINC01088, LINC01094, LINC02994, LOC101928893, LOC110120752, LOC111591506, LOC112997534, LOC112997535, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC112997542, LOC112997543, LOC112997544, LOC112997545, LOC116158497, LOC116158498, LOC116158499, LOC116158500, LOC116158501, LOC116158502, LOC116158503, LOC121053187, LOC121725173, LOC121725174, LOC121725175, LOC123477765, LOC123477766, LOC123477767, LOC123477768, LOC123477769, LOC123477770, LOC123477771, LOC123477772, LOC123477773, LOC123477774, LOC126807084, LOC126807085, LOC126807086, LOC126807087, LOC126807088, LOC126807089, LOC126807090, LOC126807091, LOC126807092, LOC126807093, LOC126807094, LOC126807095, LOC126807096, LOC126807097, LOC126807098, LOC126807099, LOC126807100, LOC129389220, LOC129389221, LOC129389222, LOC129389223, LOC129389224, 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 | | 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:
- Chr4:80496902-93333600
- GRCh38:
- Chr4:79575748-92412449
| ABCG2, ABRAXAS1, AFF1, AFF1-AS1, ANTXR2, ARHGAP24, BMP3, C4orf36, CCSER1, CDS1, CFAP299, COPS4, COQ2, DMP1, DSPP, ENOPH1, FAM13A, FAM13A-AS1, FGF5, GPAT3, GPRIN3, GRID2, HELQ, HERC3, HERC5, HERC6, HNRNPD, HNRNPD-DT, HNRNPDL, HPSE, HSD17B11, HSD17B13, IBSP, KLHL8, LIN54, LINC00575, LINC00989, LINC02994, LNCPRESS2, LOC107988048, LOC110120743, LOC110120752, LOC110121083, LOC110283621, LOC110351180, LOC111365205, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC112997542, LOC112997543, LOC112997544, LOC112997545, LOC112997546, LOC116158501, LOC116158502, LOC116158503, LOC121053188, LOC121725174, LOC121725175, LOC121725176, LOC121725177, LOC121725178, LOC123477770, LOC123477771, LOC123477772, LOC123477773, LOC123477774, LOC123477775, LOC123477776, LOC123477777, LOC123477778, LOC123477779, LOC123477780, LOC123477781, LOC123477782, LOC123477783, LOC123477784, LOC123477785, LOC123477786, LOC123477787, LOC126807092, LOC126807093, LOC126807094, LOC126807095, LOC126807096, LOC126807097, LOC126807098, LOC126807099, LOC126807100, LOC126807101, LOC126807102, LOC126807103, LOC126807104, LOC126807105, LOC126807106, LOC126807107, LOC126807108, LOC126807109, LOC126807110, LOC126807111, LOC129389221, LOC129389222, LOC129389223, LOC129389224, LOC129389225, 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, MAPK10, MAPK10-AS1, MEPE, MIR4451, MIR4452, MIR5705, MIR575, MMRN1, MRPS18C, NAP1L5, NKX6-1, NUDT9, PCAT4, PIGY, PIGY-DT, PKD2, PLAC8, PPM1K, PPM1K-DT, PRDM8, PRDM8-AS1, PRKG2, PRKG2-AS1, PTPN13, PYURF, RASGEF1B, SCD5, SCPPPQ1, SEC31A, SLC10A6, SNCA, SNCA-AS1, SNORD143, SNORD144, SPARCL1, SPP1, THAP9, THAP9-AS1, TIGD2, TMEM150C, WDFY3, WDFY3-AS1, WDFY3-AS2 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:80707668-86753960
- GRCh38:
- Chr4:79786514-85832807
| ABRAXAS1, ANTXR2, ARHGAP24, BMP3, CDS1, CFAP299, COPS4, COQ2, ENOPH1, FGF5, GPAT3, HELQ, HNRNPD, HNRNPD-DT, HNRNPDL, HPSE, LIN54, LINC00575, LINC02994, LOC107988048, LOC110120743, LOC110120752, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC112997542, LOC112997543, LOC112997544, LOC112997545, LOC116158501, LOC116158502, LOC116158503, LOC121725174, LOC121725175, LOC123477771, LOC123477772, LOC123477773, LOC123477774, LOC123477775, LOC123477776, LOC123477777, LOC126807092, LOC126807093, LOC126807094, LOC126807095, LOC126807096, LOC126807097, LOC126807098, LOC126807099, LOC126807100, LOC126807101, LOC126807102, LOC126807103, LOC126807104, LOC129389221, LOC129389222, LOC129389223, LOC129389224, 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, MIR4451, MIR575, MRPS18C, NKX6-1, PCAT4, PLAC8, PRDM8, PRDM8-AS1, PRKG2, PRKG2-AS1, RASGEF1B, SCD5, SEC31A, SNORD143, SNORD144, THAP9, THAP9-AS1, TMEM150C, WDFY3, WDFY3-AS1, WDFY3-AS2 | | See cases | Pathogenic (Oct 14, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr4:80965103-87869469
- GRCh38:
- Chr4:80043949-86948317
| ABRAXAS1, AFF1, AFF1-AS1, ANTXR2, ARHGAP24, BMP3, C4orf36, CDS1, CFAP299, COPS4, COQ2, ENOPH1, FGF5, GPAT3, HELQ, HNRNPD, HNRNPD-DT, HNRNPDL, HPSE, LIN54, LINC00575, LINC02994, LOC107988048, LOC110120743, LOC110120752, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC112997542, LOC112997543, LOC112997544, LOC112997545, LOC116158501, LOC116158502, LOC116158503, LOC121725174, LOC121725175, LOC123477771, LOC123477772, LOC123477773, LOC123477774, LOC123477775, LOC123477776, LOC123477777, LOC123477778, LOC126807092, LOC126807093, LOC126807094, LOC126807095, LOC126807096, LOC126807097, LOC126807098, LOC126807099, LOC126807100, LOC126807101, LOC126807102, LOC126807103, LOC126807104, LOC129389223, LOC129389224, 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, MAPK10, MAPK10-AS1, MIR4451, MIR4452, MIR575, MRPS18C, NKX6-1, PLAC8, PRDM8, PRDM8-AS1, PRKG2, PRKG2-AS1, PTPN13, RASGEF1B, SCD5, SEC31A, SLC10A6, SNORD143, SNORD144, THAP9, THAP9-AS1, TMEM150C, WDFY3, WDFY3-AS1, WDFY3-AS2 | | See cases | Pathogenic (Apr 30, 2011) | no assertion criteria provided |
| - 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:
- Chr4:81800931-95730598
- GRCh38:
- Chr4:80879777-94809447
| ABCG2, ABRAXAS1, AFF1, AFF1-AS1, ARHGAP24, ATOH1, BMP3, BMPR1B, BMPR1B-DT, C4orf36, CCSER1, CDS1, CFAP299, COPS4, COQ2, DMP1, DSPP, ENOPH1, FAM13A, FAM13A-AS1, GPAT3, GPRIN3, GRID2, HELQ, HERC3, HERC5, HERC6, HNRNPD, HNRNPD-DT, HNRNPDL, HPGDS, HPSE, HSD17B11, HSD17B13, IBSP, KLHL8, LIN54, LINC00575, LINC02994, LNCPRESS2, LOC107988048, LOC110120743, LOC110120752, LOC110121083, LOC110121104, LOC110283621, LOC110351180, LOC111365205, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC112997542, LOC112997543, LOC112997544, LOC112997545, LOC112997546, LOC112997547, LOC121053188, LOC121725174, LOC121725175, LOC121725176, LOC121725177, LOC121725178, LOC123477772, LOC123477773, LOC123477774, LOC123477775, LOC123477776, LOC123477777, LOC123477778, LOC123477779, LOC123477780, LOC123477781, LOC123477782, LOC123477783, LOC123477784, LOC123477785, LOC123477786, LOC123477787, LOC123477788, LOC123477789, LOC126807095, LOC126807096, LOC126807097, LOC126807098, LOC126807099, LOC126807100, LOC126807101, LOC126807102, LOC126807103, LOC126807104, LOC126807105, LOC126807106, LOC126807107, LOC126807108, LOC126807109, LOC126807110, LOC126807111, LOC126807112, LOC129389223, LOC129389224, LOC129389225, 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, MAPK10, MAPK10-AS1, MEPE, MIR4451, MIR4452, MIR5705, MIR575, MMRN1, MRPS18C, NAP1L5, NKX6-1, NUDT9, PDLIM5, PIGY, PIGY-DT, PKD2, PLAC8, PPM1K, PPM1K-DT, PRKG2, PRKG2-AS1, PTPN13, PYURF, RASGEF1B, SCD5, SCPPPQ1, SEC31A, SLC10A6, SMARCAD1, SMARCAD1-DT, SNCA, SNCA-AS1, SNORD143, SNORD144, SPARCL1, SPP1, THAP9, THAP9-AS1, TIGD2, TMEM150C, WDFY3, WDFY3-AS1, WDFY3-AS2 | | See cases | Pathogenic (Jan 5, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr4:81829170-85250763
- GRCh38:
- Chr4:80908016-84329610
| ABRAXAS1, BMP3, CFAP299, COPS4, COQ2, ENOPH1, GPAT3, HELQ, HNRNPD, HNRNPD-DT, HNRNPDL, HPSE, LIN54, LINC00575, LINC02994, LOC107988048, LOC110120743, LOC110120752, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC112997542, LOC112997543, LOC112997544, LOC112997545, LOC121725174, LOC121725175, LOC123477772, LOC123477773, LOC123477774, LOC126807095, LOC126807096, LOC126807097, LOC126807098, LOC126807099, LOC126807100, LOC129389223, LOC129389224, 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, MIR575, MRPS18C, PLAC8, PRKG2, PRKG2-AS1, RASGEF1B, SCD5, SEC31A, SNORD143, SNORD144, THAP9, THAP9-AS1, TMEM150C | | See cases | Likely pathogenic (Jan 13, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr4:81982637-84253748
- GRCh38:
- Chr4:81061483-83332595
| COPS4, COQ2, ENOPH1, HNRNPD, HNRNPD-DT, HNRNPDL, HPSE, LIN54, LINC00575, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC121725174, LOC121725175, LOC123477772, LOC123477773, LOC126807095, LOC126807096, LOC126807097, LOC126807098, LOC129389223, LOC129389224, 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, MIR575, PLAC8, PRKG2, PRKG2-AS1, RASGEF1B, SCD5, SEC31A, SNORD143, SNORD144, THAP9, THAP9-AS1, TMEM150C | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:82597002-84891563
- GRCh38:
- Chr4:81675848-83970410
| ABRAXAS1, COPS4, COQ2, ENOPH1, GPAT3, HELQ, HNRNPD, HNRNPD-DT, HNRNPDL, HPSE, LIN54, LINC00575, LINC02994, LOC110120752, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC112997542, LOC112997543, LOC112997544, LOC112997545, LOC121725175, LOC123477773, LOC123477774, LOC126807097, LOC126807098, LOC126807099, LOC126807100, LOC129389223, LOC129389224, 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, MIR575, MRPS18C, PLAC8, SCD5, SEC31A, SNORD143, SNORD144, THAP9, THAP9-AS1, TMEM150C | | See cases | Likely pathogenic (Sep 26, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr4:82654487-84369995
- GRCh38:
- Chr4:81733333-83448842
| COPS4, COQ2, ENOPH1, HELQ, HNRNPD, HNRNPD-DT, HNRNPDL, HPSE, LIN54, LINC00575, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC121725175, LOC123477773, LOC126807097, LOC126807098, LOC126807099, LOC129389223, LOC129389224, 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, MIR575, PLAC8, SCD5, SEC31A, SNORD143, SNORD144, THAP9, THAP9-AS1, TMEM150C | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:82723161-84358267
- GRCh38:
- Chr4:81802008-83437114
| COPS4, COQ2, ENOPH1, HELQ, HNRNPD, HNRNPD-DT, HNRNPDL, HPSE, LIN54, LINC00575, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC121725175, LOC123477773, LOC126807097, LOC126807098, LOC126807099, LOC129389223, LOC129389224, 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, MIR575, PLAC8, SCD5, SEC31A, SNORD143, SNORD144, THAP9, THAP9-AS1, TMEM150C | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84185003-84185004
- GRCh38:
- Chr4:83263850-83263851
| COQ2 | | Coenzyme Q10 deficiency | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84185083
- GRCh38:
- Chr4:83263930
| COQ2 | | not provided | Likely benign (Feb 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84185095
- GRCh38:
- Chr4:83263942
| COQ2 | | Coenzyme Q10 deficiency | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84185299
- GRCh38:
- Chr4:83264146
| COQ2 | | not provided | Likely benign (Jun 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84185359
- GRCh38:
- Chr4:83264206
| COQ2 | E370G, E420G | COQ2-related condition, not provided | Uncertain significance (Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:84185368
- GRCh38:
- Chr4:83264215
| COQ2 | N417S, N367S | not provided, not specified | Conflicting interpretations of pathogenicity (Aug 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:84185375
- GRCh38:
- Chr4:83264222
| COQ2 | I365L, I415L | not provided | Uncertain significance (Jan 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84185396-84185398
- GRCh38:
- Chr4:83264243-83264245
| COQ2 | K407del, K357del | Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to | Uncertain significance (Jul 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84185412
- GRCh38:
- Chr4:83264259
| COQ2 | | not provided | Likely benign (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84185421
- GRCh38:
- Chr4:83264268
| COQ2 | N401fs, N351fs | not provided | Likely pathogenic (May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84185424
- GRCh38:
- Chr4:83264271
| COQ2 | | not provided, Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to
| Likely benign (Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:84185430
- GRCh38:
- Chr4:83264277
| COQ2 | | not provided | Likely benign (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84185433-84185434
- GRCh38:
- Chr4:83264280-83264281
| COQ2 | L345fs, L395fs | not provided | Pathogenic (Oct 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84185434
- GRCh38:
- Chr4:83264281
| COQ2 | L345S, L395S | Inborn genetic diseases | Uncertain significance (Jul 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84185440
- GRCh38:
- Chr4:83264287
| COQ2 | V393A, V343A | not specified, not provided | Benign (Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:84185449
- GRCh38:
- Chr4:83264296
| COQ2 | G340A, G390A | not provided | Uncertain significance (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84185456
- GRCh38:
- Chr4:83264303
| COQ2 | T388A, T338A | not provided | Uncertain significance (Dec 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84185458
- GRCh38:
- Chr4:83264305
| COQ2 | R387Q | not provided | Uncertain significance (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84185459
- GRCh38:
- Chr4:83264306
| COQ2 | R387* | Multiple system atrophy | risk factor (Jul 18, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr4:84185461
- GRCh38:
- Chr4:83264308
| COQ2 | N386S, N336S | not provided | Uncertain significance (Nov 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84185468
- GRCh38:
- Chr4:83264315
| COQ2 | I334V, I384V | not provided | Uncertain significance (Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84185471
- GRCh38:
- Chr4:83264318
| COQ2 | F333L, F383L | not provided | Uncertain significance (Feb 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84185501
- GRCh38:
- Chr4:83264348
| COQ2 | I373fs, I323fs | not provided | Pathogenic (Feb 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84185502
- GRCh38:
- Chr4:83264349
| COQ2 | | not provided | Likely benign (Nov 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84185506
- GRCh38:
- Chr4:83264353
| COQ2 | L321Q, L371Q | Coenzyme Q10 deficiency, primary, 1 | Likely pathogenic (Dec 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84185508
- GRCh38:
- Chr4:83264355
| COQ2 | | not provided | Likely benign (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84185511
- GRCh38:
- Chr4:83264358
| COQ2 | | not specified, not provided, Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to | Benign/Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:84188522
- GRCh38:
- Chr4:83267369
| COQ2 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84188524
- GRCh38:
- Chr4:83267371
| COQ2 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84188586
- GRCh38:
- Chr4:83267433
| COQ2 | | not provided | Likely benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84188731
- GRCh38:
- Chr4:83267578
| COQ2 | | Kidney disorder | Uncertain significance (Dec 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84188752-84188753
- GRCh38:
- Chr4:83267599-83267600
| COQ2 | H313S, H363S | not provided | Uncertain significance (Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84188763
- GRCh38:
- Chr4:83267610
| COQ2 | | not provided | Likely benign (Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84188765
- GRCh38:
- Chr4:83267612
| COQ2 | A309S, A359S | Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency, primary, 1, not provided | Uncertain significance (Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:84188771
- GRCh38:
- Chr4:83267618
| COQ2 | L307V, L357V | not provided | Uncertain significance (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84188772
- GRCh38:
- Chr4:83267619
| COQ2 | | not provided | Likely benign (Feb 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84188773
- GRCh38:
- Chr4:83267620
| COQ2 | A356V, A306V | not provided | Uncertain significance (Nov 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84188777
- GRCh38:
- Chr4:83267624
| COQ2 | A355T, A305T | not provided, Inborn genetic diseases | Conflicting interpretations of pathogenicity (Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:84188778
- GRCh38:
- Chr4:83267625
| COQ2 | | Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to, not provided
| Likely benign (Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:84188784
- GRCh38:
- Chr4:83267631
| COQ2 | | not provided | Likely benign (May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84188799
- GRCh38:
- Chr4:83267646
| COQ2 | | not provided | Likely benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84188801
- GRCh38:
- Chr4:83267648
| COQ2 | S297C, S347C | Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency, primary, 1, not provided | Uncertain significance (Dec 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:84188803
- GRCh38:
- Chr4:83267650
| COQ2 | N346S, N296S | not provided | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84188805
- GRCh38:
- Chr4:83267652
| COQ2 | | Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency, primary, 1, not provided
| Likely benign (Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:84188812
- GRCh38:
- Chr4:83267659
| COQ2 | V293A | Multiple system atrophy | risk factor (Jul 3, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr4:84188822
- GRCh38:
- Chr4:83267669
| COQ2 | | not provided | Conflicting interpretations of pathogenicity (Apr 11, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:84188825
- GRCh38:
- Chr4:83267672
| COQ2 | A339S, A289S | not provided | Uncertain significance (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84188841
- GRCh38:
- Chr4:83267688
| COQ2 | | not provided | Likely benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84188842
- GRCh38:
- Chr4:83267689
| COQ2 | S333N, S283N | not provided | Uncertain significance (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84188849
- GRCh38:
- Chr4:83267696
| COQ2 | G281S, G331S | not provided | Uncertain significance (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84188850
- GRCh38:
- Chr4:83267697
| COQ2 | | not specified, not provided, Coenzyme Q10 deficiency, primary, 1
| Benign (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:84188852
- GRCh38:
- Chr4:83267699
| COQ2 | S280R, S330R | not provided | Uncertain significance (Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84188859
- GRCh38:
- Chr4:83267706
| COQ2 | | Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency, primary, 1, not provided
| Likely benign (Feb 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:84188860
- GRCh38:
- Chr4:83267707
| COQ2 | P327L, P277L | not provided, Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency, primary, 1
| Uncertain significance (Jul 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:84188876
- GRCh38:
- Chr4:83267723
| COQ2 | G322R, G272R | not provided | Uncertain significance (Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84188877
- GRCh38:
- Chr4:83267724
| COQ2 | | not provided | Likely benign (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84188881
- GRCh38:
- Chr4:83267728
| COQ2 | R270Q, R320Q | Inborn genetic diseases, not provided, Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to | Uncertain significance (Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:84188882
- GRCh38:
- Chr4:83267729
| COQ2 | R320W, R270W | Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency, primary, 1, Inborn genetic diseases, not provided | Uncertain significance (Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:84188890
- GRCh38:
- Chr4:83267737
| COQ2 | T317M, T267M | not provided | Conflicting interpretations of pathogenicity (Jan 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:84188891
- GRCh38:
- Chr4:83267738
| COQ2 | T317A, T267A | not provided | Uncertain significance (Apr 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84188892
- GRCh38:
- Chr4:83267739
| COQ2 | | not provided | Likely benign (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84188893
- GRCh38:
- Chr4:83267740
| COQ2 | S316*, S266* | Coenzyme Q10 deficiency, primary, 1 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr4:84188901
- GRCh38:
- Chr4:83267748
| COQ2 | | not provided | Likely benign (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84188906
- GRCh38:
- Chr4:83267753
| COQ2 | I312V, I262V | not provided | Uncertain significance (Mar 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84188918
- GRCh38:
- Chr4:83267765
| COQ2 | D308N, D258N | not provided | Uncertain significance (Apr 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84188935
- GRCh38:
- Chr4:83267782
| COQ2 | | not provided | Likely benign (Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84188935
- GRCh38:
- Chr4:83267782
| COQ2 | | not provided | Likely benign (Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84189002
- GRCh38:
- Chr4:83267849
| COQ2 | | not provided | Benign (Aug 25, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84189012-84189013
- GRCh38:
- Chr4:83267859-83267860
| COQ2 | | not provided | Benign (Jun 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84189012-84189013
- GRCh38:
- Chr4:83267859-83267860
| COQ2 | | not provided | Likely benign (Jun 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84189234
- GRCh38:
- Chr4:83268081
| COQ2 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84190749
- GRCh38:
- Chr4:83269596
| COQ2 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84190901
- GRCh38:
- Chr4:83269748
| COQ2 | | not provided | Benign (Jun 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84190964
- GRCh38:
- Chr4:83269811
| COQ2 | | not provided | Likely benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84190978
- GRCh38:
- Chr4:83269825
| COQ2 | | not provided | Benign (Aug 25, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84190999
- GRCh38:
- Chr4:83269846
| COQ2 | | not specified, not provided, Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to | Benign/Likely benign (Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:84191007
- GRCh38:
- Chr4:83269854
| COQ2 | | not provided | Uncertain significance (Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84191012
- GRCh38:
- Chr4:83269859
| COQ2 | | Coenzyme Q10 deficiency, primary, 1 | Uncertain significance (Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84191012
- GRCh38:
- Chr4:83269859
| COQ2 | | Coenzyme Q10 deficiency, primary, 1 | Likely pathogenic (Dec 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84191020
- GRCh38:
- Chr4:83269867
| COQ2 | A302V, A252V | Coenzyme Q10 deficiency | not provided | no assertion provided |
| - GRCh37:
- Chr4:84191029
- GRCh38:
- Chr4:83269876
| COQ2 | T249I, T299I | not provided | Uncertain significance (Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84191031
- GRCh38:
- Chr4:83269878
| COQ2 | D248E, D298E | not provided | Uncertain significance (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84191031
- GRCh38:
- Chr4:83269878
| COQ2 | | not specified, not provided, Coenzyme Q10 deficiency, primary, 1
| Benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:84191035
- GRCh38:
- Chr4:83269882
| COQ2 | Y297C, Y247C | not provided | Likely pathogenic (Nov 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:84191036
- GRCh38:
- Chr4:83269883
| COQ2 | Y247H, Y297H | Kidney disorder | Uncertain significance (Dec 12, 2016) | criteria provided, single submitter |