| - GRCh37:
- Chr4:52697788-98426769
- GRCh38:
- Chr4:51831622-97505618
| LOC129389216, LOC129389217, LOC129389218, LOC129389219, LOC129389220, LOC129389221, LOC129389222, LOC129389223, LOC129389224, LOC129389225, LOC129389226, LOC129389227, LOC129389228, LOC129389229, LOC129992579, LOC129992580, LOC129992581, LOC129992582, LOC129992583, LOC129992584, LOC129992585, LOC129992586, LOC129992587, LOC129992588, LOC129992589, LOC129992590, LOC129992591, LOC129992592, LOC129992593, LOC129992594, LOC129992595, LOC129992596, LOC129992597, LOC129992598, LOC129992599, LOC129992600, LOC129992601, LOC129992602, LOC129992603, LOC129992604, LOC129992605, LOC129992606, LOC129992607, LOC129992608, LOC129992609, LOC129992610, LOC129992611, LOC129992612, LOC129992613, LOC129992614, LOC129992615, LOC129992616, LOC129992617, LOC129992618, LOC129992619, LOC129992620, LOC129992621, LOC129992622, LOC129992623, LOC129992624, LOC129992625, LOC129992626, LOC129992627, LOC129992628, LOC129992629, LOC129992630, LOC129992631, LOC129992632, LOC129992633, LOC129992634, LOC129992635, LOC129992636, LOC129992637, LOC129992638, LOC129992639, LOC129992640, LOC129992641, LOC129992642, LOC129992643, LOC129992644, LOC129992645, LOC129992646, LOC129992647, LOC129992648, LOC129992649, LOC129992650, LOC129992651, LOC129992652, LOC129992653, LOC129992654, LOC129992655, LOC129992656, LOC129992657, LOC129992658, LOC129992659, LOC129992660, LOC129992661, LOC129992662, LOC129992663, LOC129992664, LOC129992665, LOC129992666, LOC129992667, LOC129992668, LOC129992669, LOC129992670, LOC129992671, LOC129992672, LOC129992673, LOC129992674, LOC129992675, LOC129992676, LOC129992677, LOC129992678, LOC129992679, LOC129992680, LOC129992681, LOC129992682, LOC129992683, LOC129992684, LOC129992685, LOC129992686, LOC129992687, LOC129992688, LOC129992689, LOC129992690, LOC129992691, LOC129992692, LOC129992693, LOC129992694, LOC129992695, LOC129992696, LOC129992697, LOC129992698, LOC129992699, LOC129992700, LOC129992701, LOC129992702, LOC129992703, LOC129992704, LOC129992705, LOC129992706, LOC129992707, LOC129992708, LOC129992709, LOC129992710, LOC129992711, LOC129992712, LOC129992713, LOC129992714, LOC129992715, LOC129992716, LOC129992717, LOC129992718, LOC129992719, LOC129992720, LOC129992721, LOC129992722, LOC129992723, LOC129992724, LOC129992725, LOC129992726, LOC129992727, LOC129992728, LOC129992729, LOC129992730, LOC129992731, LOC129992732, LOC129992733, LOC129992734, LOC129992735, LOC129992736, LOC129992737, LOC129992738, LOC129992739, LOC129992740, LOC129992741, LOC129992742, LOC129992743, LOC129992744, LOC129992745, LOC129992746, LOC129992747, LOC129992748, LOC129992749, LOC129992750, LOC129992751, LOC129992752, LOC129992753, LOC129992754, LOC129992755, LOC129992756, LOC129992757, LOC129992758, LOC129992759, LOC129992760, LOC129992761, LOC129992762, LOC129992763, LOC129992764, LOC129992765, LOC129992766, LOC129992767, LOC129992768, LOC129992769, LOC129992770, LOC129992771, LOC129992772, LOC129992773, LOC129992774, LOC129992775, LOC129992776, LOC129992777, LOC129992778, LOC129992779, LOC129992780, LOC129992781, LOC129992782, LOC129992783, LOC129992784, LOC129992785, LOC129992786, LOC129992787, LOC129992788, LOC129992789, LOC129992790, LOC129992791, LOC129992792, LOC129992793, LOC129992794, LOC129992795, LOC129992796, LOC129992797, LOC129992798, LOC129992799, LOC129992800, LOC129992801, LOC129992802, LOC129992803, LOC129992804, LOC129992805, LOC129992806, LOC129992807, LOC129992808, LOC129992809, LOC129992810, LOC129992811, LOC129992812, LOC129992813, LOC129992814, LOC129992815, LOC129992816, LOC129992817, LOC129992818, LOC129992819, LOC129992820, LOC129992821, LOC129992822, LOC129992823, LOC129992824, LOC129992825, LOC129992826, LOC129992827, LOC129992828, LOC129992829, LOC129992830, LOC129992831, LOC129992832, LOC129992833, LOC129992834, LOC129992835, LOC129992836, LOC129992837, LOC129992838, LOC129992839, LOC129992840, LOC129992841, LOC129992842, LOC129992843, LOC129992844, LOC129992845, LOC129992846, LOC129992847, LOC550113, LRRC66, MAPK10, MAPK10-AS1, MEPE, MIR1269A, MIR4449, MIR4450, MIR4451, MIR4452, MIR548AG1, MIR548AH, MIR5705, MIR575, MMRN1, MOB1B, MRPL1, MRPS18C, MTHFD2L, MUC7, NAA11, NAAA, NAP1L5, NKX6-1, NMU, NOA1, NPFFR2, NUDT9, NUP54, ODAM, ODAPH, OPRPN, PAICS, PAQR3, PARM1, PARM1-AS1, PCAT4, PDCL2, PDGFRA, PDHA2, PDLIM5, PF4, PF4V1, PIGY, PIGY-DT, PKD2, PLAC8, POLR2B, PPAT, PPBP, PPEF2, PPM1K, PPM1K-DT, PRDM8, PRDM8-AS1, PRKG2, PRKG2-AS1, PRR27, PTPN13, PYURF, RASGEF1B, RASL11B, RASSF6, RCHY1, REST, RUFY3, SCARB2, SCD5, SCFD2, SCPPPQ1, SDAD1, SDAD1-AS1, SEC31A, SEPTIN11, SGCB, SHROOM3, SHROOM3-AS1, SLC10A6, SLC4A4, SMARCAD1, SMARCAD1-DT, SMR3A, SMR3B, SNCA, SNCA-AS1, SNORA26, SNORD143, SNORD144, SNORD161, SOWAHB, SPARCL1, SPATA18, SPINK2, SPMAP2L, SPP1, SRD5A3, SRD5A3-AS1, SRP72, STAP1, STATH, STBD1, STPG2, STPG2-AS1, SULT1B1, SULT1E1, TECRL, THAP6, THAP9, THAP9-AS1, TIGD2, TMEM150C, TMEM165, TMPRSS11A, TMPRSS11B, TMPRSS11D, TMPRSS11E, TMPRSS11F, UBA6, UBA6-DT, UGT2A1, UGT2A2, UGT2A3, UGT2B10, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UMLILO, UNC5C, UNC5C-AS1, USO1, USP46, USP46-DT, UTP3, WDFY3, WDFY3-AS1, WDFY3-AS2, YTHDC1, AASDH, ABCG2, ABRAXAS1, ADAMTS3, ADGRL3, ADGRL3-AS1, AFF1, AFF1-AS1, AFM, AFP, ALB, AMBN, AMTN, ANKRD17, ANKRD17-DT, ANTXR2, ANXA3, AREG, ARHGAP24, ARL9, ART3, ATOH1, BMP2K, BMP2K-DT, BMP3, BMPR1B, BMPR1B-DT, BTC, C4orf36, CABS1, CCDC158, CCNG2, CCNI, CCSER1, CDKL2, CDS1, CENPC, CEP135, CFAP299, CHIC2, CLOCK, CNOT6L, COPS4, COQ2, COX18, CRACD, CSN1S1, CSN2, CSN3, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, DANCR, DCK, DCUN1D4, DMP1, DSPP, ENAM, ENOPH1, EPGN, EPHA5, EPHA5-AS1, EREG, ERVMER34-1, EXOC1, EXOC1L, FAM13A, FAM13A-AS1, FAM47E, FAM47E-STBD1, FDCSP, FGF5, FIP1L1, FRAS1, G3BP2, GC, GK2, GNRHR, GPAT3, GPRIN3, GRID2, GRSF1, GSX2, HELQ, HERC3, HERC5, HERC6, HNRNPD, HNRNPD-DT, HNRNPDL, HOPX, HPGDS, HPSE, HSD17B11, HSD17B13, HTN1, HTN3, IBSP, IGFBP7, IGFBP7-AS1, INKILN, JCHAIN, KDR, KIT, KLHL8, LIN54, LINC00575, LINC00989, LINC01088, LINC01094, LINC01618, LINC02232, LINC02260, LINC02267, LINC02271, LINC02283, LINC02380, LINC02429, LINC02480, LINC02483, LINC02494, LINC02496, LINC02499, LINC02562, LINC02619, LINC02994, LNCPRESS2, LNX1, LNX1-AS1, LNX1-AS2, LOC100506444, LOC101927237, LOC101928893, LOC105377253, LOC105377267, LOC105377276, LOC105377672, LOC107988048, LOC110120742, LOC110120743, LOC110120745, LOC110120752, LOC110120783, LOC110121083, LOC110121104, LOC110121111, LOC110121177, LOC110121183, LOC110283621, LOC110351180, LOC111365205, LOC111589210, LOC111591506, LOC111828520, LOC111832670, LOC111832671, LOC112978669, LOC112978670, LOC112978671, LOC112997534, LOC112997535, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC112997542, LOC112997543, LOC112997544, LOC112997545, LOC112997546, LOC112997547, LOC114004386, LOC114803476, LOC114827842, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC116158494, LOC116158495, LOC116158496, LOC116158497, LOC116158498, LOC116158499, LOC116158500, LOC116158501, LOC116158502, LOC116158503, LOC121053179, LOC121053180, LOC121053181, LOC121053182, LOC121053183, LOC121053184, LOC121053185, LOC121053186, LOC121053187, LOC121053188, LOC121725171, LOC121725172, LOC121725173, LOC121725174, LOC121725175, LOC121725176, LOC121725177, LOC121725178, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC123477748, LOC123477749, LOC123477750, LOC123477751, LOC123477752, LOC123477753, LOC123477754, LOC123477755, LOC123477756, LOC123477757, LOC123477758, LOC123477759, LOC123477760, LOC123477761, LOC123477762, LOC123477763, LOC123477764, LOC123477765, LOC123477766, LOC123477767, LOC123477768, LOC123477769, LOC123477770, LOC123477771, LOC123477772, LOC123477773, LOC123477774, LOC123477775, LOC123477776, LOC123477777, LOC123477778, LOC123477779, LOC123477780, LOC123477781, LOC123477782, LOC123477783, LOC123477784, LOC123477785, LOC123477786, LOC123477787, LOC123477788, LOC123477789, LOC123477790, LOC126807053, LOC126807054, LOC126807055, LOC126807056, LOC126807057, LOC126807058, LOC126807059, LOC126807060, LOC126807061, LOC126807062, LOC126807063, LOC126807064, LOC126807065, LOC126807066, LOC126807067, LOC126807068, LOC126807069, LOC126807070, LOC126807071, LOC126807072, LOC126807073, LOC126807074, LOC126807075, LOC126807076, LOC126807077, LOC126807078, LOC126807079, LOC126807080, LOC126807081, LOC126807082, LOC126807083, LOC126807084, LOC126807085, LOC126807086, LOC126807087, LOC126807088, LOC126807089, LOC126807090, LOC126807091, LOC126807092, LOC126807093, LOC126807094, LOC126807095, LOC126807096, LOC126807097, LOC126807098, LOC126807099, LOC126807100, LOC126807101, LOC126807102, LOC126807103, LOC126807104, LOC126807105, LOC126807106, LOC126807107, LOC126807108, LOC126807109, LOC126807110, LOC126807111, LOC126807112, LOC126807113, LOC126807114, LOC126807115, LOC126807116, LOC126807117, LOC129389211, LOC129389212, LOC129389213, LOC129389214, LOC129389215 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh38:
- Chr4:51891814-76009719
| CDKL2, LOC112978671, LOC114004386, LOC129992588, LOC129992589, LOC129992683, LOC129992684, USO1, LOC129992685, LOC129992686, MIR4449, MIR548AG1, MOB1B, NMU, NOA1, NPFFR2, LOC550113, LRRC66, MIR1269A, MTHFD2L, MUC7, NAAA, ODAM, ODAPH, OPRPN, USP46, USP46-DT, UTP3, LOC129992590, LOC129992591, LOC129992592, LOC129992607, LOC129992608, LOC129992593, LOC129992594, LOC129992595, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC121053180, LOC121053181, LOC129992609, LOC129992610, LOC129992596, LOC129992597, LOC129992598, LOC129992599, LOC129992600, LOC129992601, LOC129992602, LOC129992603, LOC129992604, LOC129992605, LOC129992606, CENPC, CEP135, CSN2, CSN3, CXCL1, CXCL2, CXCL3, CXCL5, CXCL6, COX18, CRACD, CHIC2, CLOCK, CSN1S1, LOC114803476, LOC114827842, LOC121053182, LOC121053183, LOC121053184, LOC121053185, LOC121053186, LOC116158494, LOC116158495, LOC116158496, LOC121053179, AASDH, ADAMTS3, ADGRL3, ADGRL3-AS1, AFM, AFP, ALB, AMBN, AMTN, ANKRD17, ANKRD17-DT, AREG, ARL9, BTC, CABS1, CXCL8, CXCL9, DANCR, DCK, DCUN1D4, ENAM, EPGN, EPHA5, EPHA5-AS1, EREG, ERVMER34-1, EXOC1, EXOC1L, FDCSP, FIP1L1, G3BP2, GC, GNRHR, GRSF1, GSX2, HOPX, HTN1, HTN3, IGFBP7, IGFBP7-AS1, INKILN, JCHAIN, KDR, KIT, LINC01618, LINC02232, LINC02260, LINC02271, LINC02283, LINC02380, LINC02429, LINC02480, LINC02483, LINC02494, LINC02496, LINC02499, LINC02562, LINC02619, LNX1, LNX1-AS1, LNX1-AS2, LOC100506444, LOC101927237, LOC105377253, LOC105377267, LOC105377276, LOC105377672, LOC110120742, LOC110120745, LOC110120783, LOC110121111, LOC110121177, LOC110121183, LOC111589210, LOC111828520, LOC111832670, LOC111832671, LOC112978669, LOC112978670, LOC121725171, LOC121725172, 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, 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, LOC129389211, LOC129389212, LOC129389213, LOC129389214, LOC129389215, LOC129389216, LOC129389217, LOC129389218, LOC129389219, LOC129992584, LOC129992585, LOC129992586, LOC129992587, 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, PAICS, PARM1, PARM1-AS1, PDCL2, PDGFRA, PF4, PF4V1, POLR2B, PPAT, PPBP, PPEF2, PRR27, RASL11B, RASSF6, RCHY1, REST, RUFY3, SCFD2, SDAD1, SDAD1-AS1, SGCB, SLC4A4, SMR3A, SMR3B, SNORA26, SPATA18, SPINK2, SPMAP2L, SRD5A3, SRD5A3-AS1, SRP72, STAP1, STATH, SULT1B1, SULT1E1, TECRL, THAP6, TMEM165, TMPRSS11A, TMPRSS11B, TMPRSS11D, TMPRSS11E, TMPRSS11F, UBA6, UBA6-DT, UGT2A1, UGT2A2, UGT2A3, UGT2B10, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UMLILO, YTHDC1 | | Partial albinism | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr4:68665383-75106637
- GRCh38:
- Chr4:67799665-74240920
| ADAMTS3, AFM, AFP, ALB, AMBN, AMTN, ANKRD17, ANKRD17-DT, CABS1, COX18, CSN1S1, CSN2, CSN3, CXCL1, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, DCK, ENAM, FDCSP, GC, GRSF1, HTN1, HTN3, INKILN, JCHAIN, LINC02499, LOC105377267, LOC111589210, LOC111832670, LOC111832671, LOC112978669, LOC112978670, LOC112978671, LOC114803476, LOC114827842, LOC116158494, LOC116158495, LOC121053184, LOC121053185, LOC121053186, LOC121725172, LOC123477753, LOC123477754, LOC123477755, LOC123477756, LOC123477757, LOC123477758, LOC123477759, LOC123477760, LOC123477761, LOC126807070, LOC126807071, LOC126807072, LOC126807073, LOC126807074, LOC126807075, LOC126807076, LOC126807077, LOC129389214, LOC129389215, LOC129389216, LOC129389217, LOC129389218, LOC129992656, LOC129992657, LOC129992658, LOC129992659, LOC129992660, LOC129992661, LOC129992662, LOC129992663, LOC129992664, LOC129992665, LOC129992666, LOC129992667, LOC129992668, LOC129992669, LOC129992670, LOC129992671, LOC129992672, LOC129992673, LOC129992674, LOC129992675, LOC550113, MOB1B, MTHFD2L, MUC7, NPFFR2, ODAM, OPRPN, PF4, PF4V1, PPBP, PRR27, RASSF6, RUFY3, SLC4A4, SMR3A, SMR3B, STATH, SULT1B1, SULT1E1, TMPRSS11A, TMPRSS11B, TMPRSS11D, TMPRSS11E, TMPRSS11F, UGT2A1, UGT2A2, UGT2A3, UGT2B10, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UMLILO, UTP3, YTHDC1 | | See cases | Likely pathogenic (Oct 10, 2011) | no assertion criteria provided |
| - GRCh38:
- Chr4:67833055-82716065
| DCK, STATH, UGT2B11, UGT2B15, SULT1E1, THAP6, TMEM150C, TMPRSS11A, TMPRSS11B, TMPRSS11D, TMPRSS11E, TMPRSS11F, UGT2A1, UGT2A2, UGT2A3, UGT2B10, ENAM, ENOPH1, FAM47E, FAM47E-STBD1, EPGN, EREG, FDCSP, FGF5, FRAS1, G3BP2, GC, GK2, GRSF1, HNRNPD, HNRNPD-DT, HNRNPDL, HTN1, STBD1, SULT1B1, ADAMTS3, AFM, AFP, ALB, AMBN, AMTN, ANKRD17, ANKRD17-DT, ANTXR2, ANXA3, AREG, ART3, BMP2K, BMP2K-DT, BMP3, BTC, CABS1, CCDC158, CCNG2, CCNI, CDKL2, CFAP299, CNOT6L, COX18, CSN1S1, CSN2, CSN3, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, HTN3, INKILN, JCHAIN, LINC00575, LINC00989, LINC01088, LINC01094, LINC02483, LINC02499, LINC02562, LOC101928893, LOC105377267, LOC105377276, LOC111589210, LOC111591506, LOC111828520, LOC111832670, LOC111832671, LOC112978669, LOC112978670, LOC112978671, LOC112997534, LOC112997535, LOC112997537, LOC114803476, LOC114827842, LOC116158494, LOC116158495, LOC116158496, LOC116158497, LOC116158498, LOC116158499, LOC116158500, LOC116158501, LOC116158502, LOC116158503, LOC121053184, LOC121053185, LOC121053186, LOC121053187, LOC121725172, LOC121725173, LOC121725174, LOC121725175, LOC123477753, LOC123477754, LOC123477755, LOC123477756, LOC123477757, LOC123477758, LOC123477759, LOC123477760, LOC123477761, LOC123477762, LOC123477763, LOC123477764, LOC123477765, LOC123477766, LOC123477767, LOC123477768, LOC123477769, LOC123477770, LOC123477771, LOC123477772, LOC123477773, 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, LOC129389214, LOC129389215, LOC129389216, LOC129389217, LOC129389218, LOC129389219, LOC129389220, LOC129389221, LOC129389222, LOC129389223, LOC129389224, 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, LOC550113, MIR4450, MIR548AH, MOB1B, MRPL1, MTHFD2L, MUC7, NAA11, NAAA, NPFFR2, NUP54, ODAM, ODAPH, OPRPN, PAQR3, PARM1, PARM1-AS1, PCAT4, PF4, PF4V1, PPBP, PPEF2, PRDM8, PRDM8-AS1, PRKG2, PRKG2-AS1, PRR27, RASGEF1B, RASSF6, RCHY1, RUFY3, SCARB2, SCD5, SDAD1, SDAD1-AS1, SEPTIN11, SHROOM3, SHROOM3-AS1, SLC4A4, SMR3A, SMR3B, SNORD161, SOWAHB, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UMLILO, USO1, UTP3, YTHDC1 | | See cases | Pathogenic (May 11, 2022) | 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:
- Chr4:71994591-79020242
- GRCh38:
- Chr4:71128874-78099088
| ADAMTS3, AFM, AFP, ALB, ANKRD17, ANKRD17-DT, AREG, ART3, BTC, CCDC158, CCNG2, CCNI, CDKL2, CNOT6L, COX18, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, EPGN, EREG, FAM47E, FAM47E-STBD1, FRAS1, G3BP2, GC, INKILN, LINC02483, LINC02499, LINC02562, LOC105377276, LOC111591506, LOC111828520, LOC111832670, LOC111832671, LOC112978670, LOC112978671, LOC112997534, LOC114827842, LOC116158494, LOC116158495, LOC116158496, LOC121053184, LOC121053185, LOC121053186, LOC121725172, LOC123477756, LOC123477757, LOC123477758, LOC123477759, LOC123477760, LOC123477761, LOC123477762, LOC123477763, LOC123477764, LOC123477765, LOC123477766, LOC123477767, LOC126807073, LOC126807074, LOC126807075, LOC126807076, LOC126807077, LOC126807078, LOC126807079, LOC126807080, LOC126807081, LOC126807082, LOC126807083, LOC126807084, LOC126807085, LOC126807086, LOC126807087, LOC129389219, 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, MIR4450, MIR548AH, MRPL1, MTHFD2L, NAAA, NPFFR2, NUP54, ODAPH, PARM1, PARM1-AS1, PF4, PF4V1, PPBP, PPEF2, RASSF6, RCHY1, SCARB2, SDAD1, SDAD1-AS1, SEPTIN11, SHROOM3, SHROOM3-AS1, SLC4A4, SOWAHB, STBD1, THAP6, UMLILO, USO1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - 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:
- Chr4:73754127-74044830
- GRCh38:
- Chr4:72888410-73179113
| ANKRD17, COX18, LOC123477756, LOC129992669 | | See cases | Likely benign (Sep 21, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr4:73819037-74044783
- GRCh38:
- Chr4:72953320-73179066
| ANKRD17, COX18, LOC123477756, LOC129992669 | | See cases | Uncertain significance (Apr 30, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr4:73819067-74044813
- GRCh38:
- Chr4:72953350-73179096
| ANKRD17, COX18, LOC123477756, LOC129992669 | | See cases | Benign (Feb 6, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr4:73941957
- GRCh38:
- Chr4:73076240
| ANKRD17 | Q2488H, Q2601H, Q2350H, Q2600H | Inborn genetic diseases | Uncertain significance (Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73941961
- GRCh38:
- Chr4:73076244
| ANKRD17 | N2349S, N2487S, N2599S, N2600S | Chopra-Amiel-Gordon syndrome | Uncertain significance (Apr 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73941982
- GRCh38:
- Chr4:73076265
| ANKRD17 | H2342R, H2593R, H2480R, H2592R | Inborn genetic diseases | Uncertain significance (Nov 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73941995
- GRCh38:
- Chr4:73076278
| ANKRD17 | P2476T, P2588T, P2589T, P2338T | Inborn genetic diseases | Uncertain significance (Sep 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73942678
- GRCh38:
- Chr4:73076961
| ANKRD17 | | Lip and oral cavity carcinoma | association | criteria provided, single submitter |
| - GRCh37:
- Chr4:73942680
- GRCh38:
- Chr4:73076963
| ANKRD17 | T2326P, T2464P, T2576P, T2577P | Chopra-Amiel-Gordon syndrome, Inborn genetic diseases | Uncertain significance (Aug 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:73942745
- GRCh38:
- Chr4:73077028
| ANKRD17 | I2304T, I2442T, I2554T, I2555T | not provided | Uncertain significance (Sep 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73943189
- GRCh38:
- Chr4:73077472
| ANKRD17 | D2377E, D2239E, D2490E, D2489E | Inborn genetic diseases | Uncertain significance (Apr 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73943205-73943211
- GRCh38:
- Chr4:73077488-73077494
| ANKRD17 | M2232fs, M2370fs, M2482fs, M2483fs | Chopra-Amiel-Gordon syndrome | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr4:73943205
- GRCh38:
- Chr4:73077488
| ANKRD17 | H2234P, H2372P, H2484P, H2485P | Chopra-Amiel-Gordon syndrome | Uncertain significance (Sep 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73943250
- GRCh38:
- Chr4:73077533
| ANKRD17 | D2219G, D2357G, D2469G, D2470G | ANKRD17-related condition | Uncertain significance (May 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73944344
- GRCh38:
- Chr4:73078627
| ANKRD17 | | not specified | Likely benign (Oct 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73944374
- GRCh38:
- Chr4:73078657
| ANKRD17 | I2464F, I2214F, I2352F, I2465F | Inborn genetic diseases | Uncertain significance (Aug 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73944413
- GRCh38:
- Chr4:73078696
| ANKRD17 | T2339A, T2451A, T2452A, T2201A | Inborn genetic diseases | Uncertain significance (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73944429
- GRCh38:
- Chr4:73078712
| ANKRD17 | | ANKRD17-related condition | Uncertain significance (Jan 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73944456
- GRCh38:
- Chr4:73078739
| ANKRD17 | Q2186H, Q2324H, Q2436H, Q2437H | not provided | Uncertain significance (Nov 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73944467
- GRCh38:
- Chr4:73078750
| ANKRD17 | R2183G, R2321G, R2433G, R2434G | Chopra-Amiel-Gordon syndrome | Likely pathogenic (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73944520
- GRCh38:
- Chr4:73078803
| ANKRD17 | N2303S, N2415S, N2165S, N2416S | not provided | Uncertain significance (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73944592
- GRCh38:
- Chr4:73078875
| ANKRD17 | S2141L, S2391L, S2279L, S2392L | Inborn genetic diseases | Likely benign (Feb 15, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73950968
- GRCh38:
- Chr4:73085251
| ANKRD17 | N2135S, N2273S, N2385S, N2386S | not provided | Uncertain significance (Feb 21, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73951064
- GRCh38:
- Chr4:73085347
| ANKRD17 | P2241L, P2354L, P2103L, P2353L | Inborn genetic diseases | Uncertain significance (Jul 19, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73951085
- GRCh38:
- Chr4:73085368
| ANKRD17 | S2096L, S2234L, S2346L, S2347L | ANKRD17-related condition, See cases | Uncertain significance (Sep 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:73951106
- GRCh38:
- Chr4:73085389
| ANKRD17 | G2089E, G2227E, G2339E, G2340E | not provided | Uncertain significance (Sep 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73951151
- GRCh38:
- Chr4:73085434
| ANKRD17 | M2212T, M2325T, M2324T, M2074T | Inborn genetic diseases | Likely benign (Feb 27, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73951158
- GRCh38:
- Chr4:73085441
| ANKRD17 | V2210I, V2323I, V2072I, V2322I | Inborn genetic diseases | Uncertain significance (May 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73956382
- GRCh38:
- Chr4:73090665
| ANKRD17 | | Chopra-Amiel-Gordon syndrome | Uncertain significance (Jun 2, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr4:73956498
- GRCh38:
- Chr4:73090781
| ANKRD17 | M2282V, M2283V, M2032V, M2170V | Inborn genetic diseases | Uncertain significance (Jun 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73956500
- GRCh38:
- Chr4:73090783
| ANKRD17 | S2169C, S2031C, S2281C, S2282C | Inborn genetic diseases | Uncertain significance (Feb 22, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73956507
- GRCh38:
- Chr4:73090790
| ANKRD17 | P2280T, P2279T, P2167T, P2029T | Inborn genetic diseases | Uncertain significance (May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73956554
- GRCh38:
- Chr4:73090837
| ANKRD17 | S2263F, S2264F, S2151F, S2013F | Inborn genetic diseases | Uncertain significance (Dec 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73956626
- GRCh38:
- Chr4:73090909
| ANKRD17 | P1989R, P2127R, P2239R, P2240R | Chopra-Amiel-Gordon syndrome | Likely pathogenic (Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73956770
- GRCh38:
- Chr4:73091053
| ANKRD17 | S2191L, S1941L, S2192L, S2079L | Inborn genetic diseases | Uncertain significance (Dec 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73956771
- GRCh38:
- Chr4:73091054
| ANKRD17 | S2079P, S2191P, S2192P, S1941P | Inborn genetic diseases | Likely benign (Dec 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73956891
- GRCh38:
- Chr4:73091174
| ANKRD17 | T2151A, T1901A, T2039A, T2152A | Inborn genetic diseases | Uncertain significance (May 3, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73956932
- GRCh38:
- Chr4:73091215
| ANKRD17 | P1887L, P2025L, P2137L, P2138L | not provided | Uncertain significance (Nov 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73956953
- GRCh38:
- Chr4:73091236
| ANKRD17 | P1880L, P2018L, P2130L, P2131L | Inborn genetic diseases | Likely benign (Mar 31, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73956957
- GRCh38:
- Chr4:73091240
| ANKRD17 | P1879A, P2017A, P2129A, P2130A | not provided | Benign (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73956957
- GRCh38:
- Chr4:73091240
| ANKRD17 | P1879S, P2017S, P2129S, P2130S | ANKRD17-related condition | Uncertain significance (Sep 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73956968
- GRCh38:
- Chr4:73091251
| ANKRD17 | S1875C, S2126C, S2125C, S2013C | Inborn genetic diseases | Likely benign (Mar 31, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73957044
- GRCh38:
- Chr4:73091327
| ANKRD17 | S1988G, S2101G, S1850G, S2100G | not provided | Uncertain significance (Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73957067
- GRCh38:
- Chr4:73091350
| ANKRD17 | P2092L, P1980L, P2093L, P1842L | Inborn genetic diseases | Uncertain significance (Aug 4, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73957181
- GRCh38:
- Chr4:73091464
| ANKRD17 | V1804A, V1942A, V2054A, V2055A | Inborn genetic diseases | Uncertain significance (Jan 31, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73957185
- GRCh38:
- Chr4:73091468
| ANKRD17 | G1803R, G1941R, G2053R, G2054R | Chopra-Amiel-Gordon syndrome | Uncertain significance (Dec 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73957187
- GRCh38:
- Chr4:73091470
| ANKRD17 | G1802E, G2052E, G2053E, G1940E | Inborn genetic diseases | Uncertain significance (Apr 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73957425
- GRCh38:
- Chr4:73091708
| ANKRD17 | S1861G, S1974G, S1723G, S1973G | Inborn genetic diseases | Uncertain significance (Apr 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73957519
- GRCh38:
- Chr4:73091802
| ANKRD17 | K1691N, K1829N, K1941N, K1942N | ANKRD17-related condition | Uncertain significance (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73957521
- GRCh38:
- Chr4:73091804
| ANKRD17 | K1691Q, K1829Q, K1941Q, K1942Q | ANKRD17-related condition | Uncertain significance (Sep 14, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73957577
- GRCh38:
- Chr4:73091860
| ANKRD17 | T1672I, T1810I, T1922I, T1923I | not provided | Uncertain significance (Jun 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73957588-73957589
- GRCh38:
- Chr4:73091871-73091872
| ANKRD17 | A1669fs, A1920fs, A1807fs, A1919fs | Intellectual disability | Likely pathogenic (Oct 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73957707
- GRCh38:
- Chr4:73091990
| ANKRD17 | S1629P, S1767P, S1879P, S1880P | Chopra-Amiel-Gordon syndrome | Likely pathogenic (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73957754
- GRCh38:
- Chr4:73092037
| ANKRD17 | K1613R, K1751R, K1863R, K1864R | not provided | Uncertain significance (Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73957769
- GRCh38:
- Chr4:73092052
| ANKRD17 | S1858C, S1859C, S1608C, S1746C | not provided | Uncertain significance (Sep 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73957793
- GRCh38:
- Chr4:73092076
| ANKRD17 | A1851V, A1600V, A1738V, A1850V | Inborn genetic diseases | Uncertain significance (May 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73957827
- GRCh38:
- Chr4:73092110
| ANKRD17 | V1839I, V1840I, V1589I, V1727I | Inborn genetic diseases | Uncertain significance (Dec 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73957982-73957985
- GRCh38:
- Chr4:73092265-73092268
| ANKRD17 | Q1536fs, Q1674fs, Q1786fs, Q1787fs | Chopra-Amiel-Gordon syndrome | Pathogenic (Oct 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73962895
- GRCh38:
- Chr4:73097178
| ANKRD17 | T1455P, T1593P, T1705P, T1706P | not provided | Uncertain significance (May 9, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73962942
- GRCh38:
- Chr4:73097225
| ANKRD17 | C1439Y, C1577Y, C1689Y, C1690Y | not provided | Uncertain significance (Feb 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73962976
- GRCh38:
- Chr4:73097259
| ANKRD17 | I1428V, I1566V, I1679V, I1678V | Inborn genetic diseases | Likely benign (Nov 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73963787
- GRCh38:
- Chr4:73098070
| ANKRD17 | | Inborn genetic diseases | Uncertain significance (Jul 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73963837
- GRCh38:
- Chr4:73098120
| ANKRD17 | | not provided | Benign (Aug 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73963860
- GRCh38:
- Chr4:73098143
| ANKRD17 | K1538E, K1650E, K1651E, K1400E | Inborn genetic diseases | Uncertain significance (Aug 20, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73963889
- GRCh38:
- Chr4:73098172
| ANKRD17 | A1640V, A1528V, A1390V, A1641V | Inborn genetic diseases | Uncertain significance (Dec 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73963898
- GRCh38:
- Chr4:73098181
| ANKRD17 | H1638R, H1525R, H1637R, H1387R | Inborn genetic diseases | Uncertain significance (Apr 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73963949
- GRCh38:
- Chr4:73098232
| ANKRD17 | S1370N, S1508N, S1620N, S1621N | Inborn genetic diseases | Uncertain significance (Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73963983
- GRCh38:
- Chr4:73098266
| ANKRD17 | E1359*, E1497*, E1609*, E1610* | Chopra-Amiel-Gordon syndrome | Likely pathogenic (Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73964081
- GRCh38:
- Chr4:73098364
| ANKRD17 | T1576I, T1326I, T1577I, T1464I | Inborn genetic diseases | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73964235
- GRCh38:
- Chr4:73098518
| ANKRD17 | E1275Q, E1525Q, E1413Q, E1526Q | Inborn genetic diseases | Likely benign (Apr 19, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73964237
- GRCh38:
- Chr4:73098520
| ANKRD17 | D1274G, D1412G, D1524G, D1525G | Chopra-Amiel-Gordon syndrome | Uncertain significance (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73968118
- GRCh38:
- Chr4:73102401
| ANKRD17 | | not provided | Likely benign (May 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73968123
- GRCh38:
- Chr4:73102406
| ANKRD17 | A1264T, A1402T, A1514T, A1515T | ANKRD17-related condition | Uncertain significance (Nov 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73968134
- GRCh38:
- Chr4:73102417
| ANKRD17 | E1398A, E1260A, E1510A, E1511A | Inborn genetic diseases | Uncertain significance (Feb 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73968138
- GRCh38:
- Chr4:73102421
| ANKRD17 | F1259L, F1397L, F1510L, F1509L | Inborn genetic diseases | Uncertain significance (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73968200-73968204
- GRCh38:
- Chr4:73102483-73102487
| ANKRD17 | R1237fs, R1488fs, R1375fs, R1487fs | not provided | Pathogenic (Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73968229
- GRCh38:
- Chr4:73102512
| ANKRD17 | | not provided | Likely benign (May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73979566-73979569
- GRCh38:
- Chr4:73113849-73113852
| ANKRD17 | Q1197fs, Q1335fs, Q1447fs, Q1448fs | Chopra-Amiel-Gordon syndrome | Pathogenic (Aug 31, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr4:73984502
- GRCh38:
- Chr4:73118785
| ANKRD17 | G1113A, G1251A, G1363A | Chopra-Amiel-Gordon syndrome | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr4:73984519
- GRCh38:
- Chr4:73118802
| ANKRD17 | W1107*, W1245*, W1357*, W1358* | Chopra-Amiel-Gordon syndrome | Likely pathogenic (Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73984527
- GRCh38:
- Chr4:73118810
| ANKRD17 | P1105S, P1243S, P1355S, P1356S | Chopra-Amiel-Gordon syndrome | Uncertain significance (Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73984556
- GRCh38:
- Chr4:73118839
| ANKRD17 | I1095T, I1233T, I1345T, I1346T | ANKRD17-related condition | Uncertain significance (May 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73985897
- GRCh38:
- Chr4:73120180
| ANKRD17 | C1085fs, C1223fs, C1335fs, C1336fs | not provided | Uncertain significance (Aug 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73985928
- GRCh38:
- Chr4:73120211
| ANKRD17 | I1213V, I1075V, I1325V, I1326V | Inborn genetic diseases | Uncertain significance (Nov 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73986659
- GRCh38:
- Chr4:73120942
| ANKRD17 | G1012A, G1150A, G1262A, G1263A | Chopra-Amiel-Gordon syndrome | Uncertain significance (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73986692
- GRCh38:
- Chr4:73120975
| ANKRD17 | R1001Q, R1139Q, R1251Q, R1252Q | not provided | Uncertain significance (Sep 11, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73986693-73986696
- GRCh38:
- Chr4:73120976-73120979
| ANKRD17 | N1000fs, N1138fs, N1250fs, N1251fs | Chopra-Amiel-Gordon syndrome | Pathogenic (Feb 21, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73987337
- GRCh38:
- Chr4:73121620
| ANKRD17 | S1098F, S1210F, S1211F, S960F | not provided | Uncertain significance (Jan 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73987412
- GRCh38:
- Chr4:73121695
| ANKRD17 | P1073R, P1185R, P1186R, P935R | Chopra-Amiel-Gordon syndrome | Likely pathogenic (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73990659
- GRCh38:
- Chr4:73124942
| ANKRD17 | S1042T, S1154T, S1155T, S904T | Neurodevelopmental delay | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr4:73990763
- GRCh38:
- Chr4:73125046
| ANKRD17 | L1007R, L1119R, L1120R, L869R | Chopra-Amiel-Gordon syndrome | Likely pathogenic (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:73990993
- GRCh38:
- Chr4:73125276
| ANKRD17 | C1090fs, C1091fs, C840fs, C978fs | Speech delay, Dysmorphism | Likely pathogenic (Aug 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:74000946
- GRCh38:
- Chr4:73135229
| ANKRD17 | P1041L, P790L, P1040L, P928L | Inborn genetic diseases | Uncertain significance (Feb 6, 2023) | criteria provided, single submitter |