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Items: 1 to 100 of 346

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
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 casesPathogenic
(Jun 11, 2013)
no assertion criteria provided
3.
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 casesPathogenic
(Apr 23, 2012)
no assertion criteria provided
4.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
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 syndromePathogenic
(Aug 24, 2023)
criteria provided, single submitter
6.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
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 casesPathogenic
(Oct 14, 2010)
no assertion criteria provided
8.
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 casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
9.
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 casesPathogenic
(Mar 21, 2011)
no assertion criteria provided
10.
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 casesPathogenic
(Jan 5, 2011)
no assertion criteria provided
11.
GRCh37:
Chr4:81829170-85250763
GRCh38:
Chr4:80908016-84329610
See casesLikely pathogenic
(Jan 13, 2012)
no assertion criteria provided
12.
GRCh37:
Chr4:81982637-84253748
GRCh38:
Chr4:81061483-83332595
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
13.
GRCh37:
Chr4:82597002-84891563
GRCh38:
Chr4:81675848-83970410
See casesLikely pathogenic
(Sep 26, 2012)
no assertion criteria provided
14.
GRCh37:
Chr4:82654487-84369995
GRCh38:
Chr4:81733333-83448842
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
15.
GRCh37:
Chr4:82723161-84358267
GRCh38:
Chr4:81802008-83437114
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
16.
GRCh37:
Chr4:84185003-84185004
GRCh38:
Chr4:83263850-83263851
COQ2Coenzyme Q10 deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr4:84185083
GRCh38:
Chr4:83263930
COQ2not providedLikely benign
(Feb 21, 2019)
criteria provided, single submitter
18.
GRCh37:
Chr4:84185095
GRCh38:
Chr4:83263942
COQ2Coenzyme Q10 deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr4:84185299
GRCh38:
Chr4:83264146
COQ2not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr4:84185359
GRCh38:
Chr4:83264206
COQ2E370G, E420GCOQ2-related condition, not providedUncertain significance
(Oct 4, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr4:84185368
GRCh38:
Chr4:83264215
COQ2N417S, N367Snot provided, not specifiedConflicting interpretations of pathogenicity
(Aug 3, 2022)
criteria provided, conflicting interpretations
22.
GRCh37:
Chr4:84185375
GRCh38:
Chr4:83264222
COQ2I365L, I415Lnot providedUncertain significance
(Jan 7, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr4:84185396-84185398
GRCh38:
Chr4:83264243-83264245
COQ2K407del, K357delCoenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility toUncertain significance
(Jul 21, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr4:84185412
GRCh38:
Chr4:83264259
COQ2not providedLikely benign
(Aug 22, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr4:84185421
GRCh38:
Chr4:83264268
COQ2N401fs, N351fsnot providedLikely pathogenic
(May 12, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr4:84185424
GRCh38:
Chr4:83264271
COQ2not provided, Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to
Likely benign
(Sep 14, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr4:84185430
GRCh38:
Chr4:83264277
COQ2not providedLikely benign
(Aug 22, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr4:84185433-84185434
GRCh38:
Chr4:83264280-83264281
COQ2L345fs, L395fsnot providedPathogenic
(Oct 10, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr4:84185434
GRCh38:
Chr4:83264281
COQ2L345S, L395SInborn genetic diseasesUncertain significance
(Jul 25, 2023)
criteria provided, single submitter
30.
GRCh37:
Chr4:84185440
GRCh38:
Chr4:83264287
COQ2V393A, V343Anot specified, not providedBenign
(Oct 28, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr4:84185449
GRCh38:
Chr4:83264296
COQ2G340A, G390Anot providedUncertain significance
(Mar 18, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr4:84185456
GRCh38:
Chr4:83264303
COQ2T388A, T338Anot providedUncertain significance
(Dec 3, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr4:84185458
GRCh38:
Chr4:83264305
COQ2R387Qnot providedUncertain significance
(Sep 19, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr4:84185459
GRCh38:
Chr4:83264306
COQ2R387*Multiple system atrophyrisk factor
(Jul 18, 2013)
no assertion criteria provided
35.
GRCh37:
Chr4:84185461
GRCh38:
Chr4:83264308
COQ2N386S, N336Snot providedUncertain significance
(Nov 27, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr4:84185468
GRCh38:
Chr4:83264315
COQ2I334V, I384Vnot providedUncertain significance
(Feb 28, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr4:84185471
GRCh38:
Chr4:83264318
COQ2F333L, F383Lnot providedUncertain significance
(Feb 3, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr4:84185501
GRCh38:
Chr4:83264348
COQ2I373fs, I323fsnot providedPathogenic
(Feb 1, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr4:84185502
GRCh38:
Chr4:83264349
COQ2not providedLikely benign
(Nov 2, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr4:84185506
GRCh38:
Chr4:83264353
COQ2L321Q, L371QCoenzyme Q10 deficiency, primary, 1Likely pathogenic
(Dec 28, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr4:84185508
GRCh38:
Chr4:83264355
COQ2not providedLikely benign
(Jul 19, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr4:84185511
GRCh38:
Chr4:83264358
COQ2not 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
43.
GRCh37:
Chr4:84188522
GRCh38:
Chr4:83267369
COQ2not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr4:84188524
GRCh38:
Chr4:83267371
COQ2not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr4:84188586
GRCh38:
Chr4:83267433
COQ2not providedLikely benign
(Jun 14, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr4:84188731
GRCh38:
Chr4:83267578
COQ2Kidney disorderUncertain significance
(Dec 1, 2019)
criteria provided, single submitter
47.
GRCh37:
Chr4:84188752-84188753
GRCh38:
Chr4:83267599-83267600
COQ2H313S, H363Snot providedUncertain significance
(Mar 11, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr4:84188763
GRCh38:
Chr4:83267610
COQ2not providedLikely benign
(Oct 27, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr4:84188765
GRCh38:
Chr4:83267612
COQ2A309S, A359SCoenzyme 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
50.
GRCh37:
Chr4:84188771
GRCh38:
Chr4:83267618
COQ2L307V, L357Vnot providedUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr4:84188772
GRCh38:
Chr4:83267619
COQ2not providedLikely benign
(Feb 22, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr4:84188773
GRCh38:
Chr4:83267620
COQ2A356V, A306Vnot providedUncertain significance
(Nov 28, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr4:84188777
GRCh38:
Chr4:83267624
COQ2A355T, A305Tnot provided, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Mar 1, 2023)
criteria provided, conflicting interpretations
54.
GRCh37:
Chr4:84188778
GRCh38:
Chr4:83267625
COQ2Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to, not provided
Likely benign
(Jun 27, 2022)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr4:84188784
GRCh38:
Chr4:83267631
COQ2not providedLikely benign
(May 17, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr4:84188799
GRCh38:
Chr4:83267646
COQ2not providedLikely benign
(Nov 1, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr4:84188801
GRCh38:
Chr4:83267648
COQ2S297C, S347CCoenzyme 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
58.
GRCh37:
Chr4:84188803
GRCh38:
Chr4:83267650
COQ2N346S, N296Snot providedUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr4:84188805
GRCh38:
Chr4:83267652
COQ2Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency, primary, 1, not provided
Likely benign
(Sep 13, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr4:84188812
GRCh38:
Chr4:83267659
COQ2V293AMultiple system atrophyrisk factor
(Jul 3, 2014)
no assertion criteria provided
61.
GRCh37:
Chr4:84188822
GRCh38:
Chr4:83267669
COQ2not providedConflicting interpretations of pathogenicity
(Apr 11, 2022)
criteria provided, conflicting interpretations
62.
GRCh37:
Chr4:84188825
GRCh38:
Chr4:83267672
COQ2A339S, A289Snot providedUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr4:84188841
GRCh38:
Chr4:83267688
COQ2not providedLikely benign
(Oct 17, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr4:84188842
GRCh38:
Chr4:83267689
COQ2S333N, S283Nnot providedUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr4:84188849
GRCh38:
Chr4:83267696
COQ2G281S, G331Snot providedUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr4:84188850
GRCh38:
Chr4:83267697
COQ2not specified, not provided, Coenzyme Q10 deficiency, primary, 1
Benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr4:84188852
GRCh38:
Chr4:83267699
COQ2S280R, S330Rnot providedUncertain significance
(Apr 11, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr4:84188859
GRCh38:
Chr4:83267706
COQ2Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency, primary, 1, not provided
Likely benign
(Feb 8, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr4:84188860
GRCh38:
Chr4:83267707
COQ2P327L, P277Lnot provided, Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency, primary, 1
Uncertain significance
(Jul 14, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr4:84188876
GRCh38:
Chr4:83267723
COQ2G322R, G272Rnot providedUncertain significance
(Jun 13, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr4:84188877
GRCh38:
Chr4:83267724
COQ2not providedLikely benign
(Oct 5, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr4:84188881
GRCh38:
Chr4:83267728
COQ2R270Q, R320QInborn 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
73.
GRCh37:
Chr4:84188882
GRCh38:
Chr4:83267729
COQ2R320W, R270WMultiple 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
74.
GRCh37:
Chr4:84188890
GRCh38:
Chr4:83267737
COQ2T317M, T267Mnot providedConflicting interpretations of pathogenicity
(Jan 3, 2022)
criteria provided, conflicting interpretations
75.
GRCh37:
Chr4:84188891
GRCh38:
Chr4:83267738
COQ2T317A, T267Anot providedUncertain significance
(Apr 7, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr4:84188892
GRCh38:
Chr4:83267739
COQ2not providedLikely benign
(Oct 5, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr4:84188893
GRCh38:
Chr4:83267740
COQ2S316*, S266*Coenzyme Q10 deficiency, primary, 1Uncertain significancecriteria provided, single submitter
78.
GRCh37:
Chr4:84188901
GRCh38:
Chr4:83267748
COQ2not providedLikely benign
(Mar 1, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr4:84188906
GRCh38:
Chr4:83267753
COQ2I312V, I262Vnot providedUncertain significance
(Mar 29, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr4:84188918
GRCh38:
Chr4:83267765
COQ2D308N, D258Nnot providedUncertain significance
(Apr 10, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr4:84188935
GRCh38:
Chr4:83267782
COQ2not providedLikely benign
(Jul 11, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr4:84188935
GRCh38:
Chr4:83267782
COQ2not providedLikely benign
(Feb 24, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr4:84189002
GRCh38:
Chr4:83267849
COQ2not providedBenign
(Aug 25, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr4:84189012-84189013
GRCh38:
Chr4:83267859-83267860
COQ2not providedBenign
(Jun 23, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr4:84189012-84189013
GRCh38:
Chr4:83267859-83267860
COQ2not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr4:84189234
GRCh38:
Chr4:83268081
COQ2not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr4:84190749
GRCh38:
Chr4:83269596
COQ2not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr4:84190901
GRCh38:
Chr4:83269748
COQ2not providedBenign
(Jun 23, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr4:84190964
GRCh38:
Chr4:83269811
COQ2not providedLikely benign
(Jun 14, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr4:84190978
GRCh38:
Chr4:83269825
COQ2not providedBenign
(Aug 25, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr4:84190999
GRCh38:
Chr4:83269846
COQ2not 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
92.
GRCh37:
Chr4:84191007
GRCh38:
Chr4:83269854
COQ2not providedUncertain significance
(Aug 5, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr4:84191012
GRCh38:
Chr4:83269859
COQ2Coenzyme Q10 deficiency, primary, 1Uncertain significance
(Apr 4, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr4:84191012
GRCh38:
Chr4:83269859
COQ2Coenzyme Q10 deficiency, primary, 1Likely pathogenic
(Dec 18, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr4:84191020
GRCh38:
Chr4:83269867
COQ2A302V, A252VCoenzyme Q10 deficiencynot providedno assertion provided
96.
GRCh37:
Chr4:84191029
GRCh38:
Chr4:83269876
COQ2T249I, T299Inot providedUncertain significance
(Jul 25, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr4:84191031
GRCh38:
Chr4:83269878
COQ2D248E, D298Enot providedUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr4:84191031
GRCh38:
Chr4:83269878
COQ2not specified, not provided, Coenzyme Q10 deficiency, primary, 1
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr4:84191035
GRCh38:
Chr4:83269882
COQ2Y297C, Y247Cnot providedLikely pathogenic
(Nov 14, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr4:84191036
GRCh38:
Chr4:83269883
COQ2Y247H, Y297HKidney disorderUncertain significance
(Dec 12, 2016)
criteria provided, single submitter
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