U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 190

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.
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 albinismPathogeniccriteria provided, single submitter
3.
GRCh37:
Chr4:68665383-75106637
GRCh38:
Chr4:67799665-74240920
See casesLikely pathogenic
(Oct 10, 2011)
no assertion criteria provided
4.
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 casesPathogenic
(May 11, 2022)
criteria provided, single submitter
5.
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
6.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
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
8.
GRCh37:
Chr4:73754127-74044830
GRCh38:
Chr4:72888410-73179113
ANKRD17, COX18, LOC123477756, LOC129992669See casesLikely benign
(Sep 21, 2012)
no assertion criteria provided
9.
GRCh37:
Chr4:73819037-74044783
GRCh38:
Chr4:72953320-73179066
ANKRD17, COX18, LOC123477756, LOC129992669See casesUncertain significance
(Apr 30, 2011)
no assertion criteria provided
10.
GRCh37:
Chr4:73819067-74044813
GRCh38:
Chr4:72953350-73179096
ANKRD17, COX18, LOC123477756, LOC129992669See casesBenign
(Feb 6, 2013)
no assertion criteria provided
11.
GRCh37:
Chr4:73941957
GRCh38:
Chr4:73076240
ANKRD17Q2488H, Q2601H, Q2350H, Q2600HInborn genetic diseasesUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr4:73941961
GRCh38:
Chr4:73076244
ANKRD17N2349S, N2487S, N2599S, N2600SChopra-Amiel-Gordon syndromeUncertain significance
(Apr 6, 2023)
criteria provided, single submitter
13.
GRCh37:
Chr4:73941982
GRCh38:
Chr4:73076265
ANKRD17H2342R, H2593R, H2480R, H2592RInborn genetic diseasesUncertain significance
(Nov 7, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr4:73941995
GRCh38:
Chr4:73076278
ANKRD17P2476T, P2588T, P2589T, P2338TInborn genetic diseasesUncertain significance
(Sep 27, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr4:73942678
GRCh38:
Chr4:73076961
ANKRD17Lip and oral cavity carcinomaassociationcriteria provided, single submitter
16.
GRCh37:
Chr4:73942680
GRCh38:
Chr4:73076963
ANKRD17T2326P, T2464P, T2576P, T2577PChopra-Amiel-Gordon syndrome, Inborn genetic diseasesUncertain significance
(Aug 10, 2023)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr4:73942745
GRCh38:
Chr4:73077028
ANKRD17I2304T, I2442T, I2554T, I2555Tnot providedUncertain significance
(Sep 20, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr4:73943189
GRCh38:
Chr4:73077472
ANKRD17D2377E, D2239E, D2490E, D2489EInborn genetic diseasesUncertain significance
(Apr 26, 2023)
criteria provided, single submitter
19.
GRCh37:
Chr4:73943205-73943211
GRCh38:
Chr4:73077488-73077494
ANKRD17M2232fs, M2370fs, M2482fs, M2483fsChopra-Amiel-Gordon syndromeLikely pathogeniccriteria provided, single submitter
20.
GRCh37:
Chr4:73943205
GRCh38:
Chr4:73077488
ANKRD17H2234P, H2372P, H2484P, H2485PChopra-Amiel-Gordon syndromeUncertain significance
(Sep 16, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr4:73943250
GRCh38:
Chr4:73077533
ANKRD17D2219G, D2357G, D2469G, D2470GANKRD17-related conditionUncertain significance
(May 17, 2023)
criteria provided, single submitter
22.
GRCh37:
Chr4:73944344
GRCh38:
Chr4:73078627
ANKRD17not specifiedLikely benign
(Oct 12, 2023)
criteria provided, single submitter
23.
GRCh37:
Chr4:73944374
GRCh38:
Chr4:73078657
ANKRD17I2464F, I2214F, I2352F, I2465FInborn genetic diseasesUncertain significance
(Aug 28, 2023)
criteria provided, single submitter
24.
GRCh37:
Chr4:73944413
GRCh38:
Chr4:73078696
ANKRD17T2339A, T2451A, T2452A, T2201AInborn genetic diseasesUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr4:73944429
GRCh38:
Chr4:73078712
ANKRD17ANKRD17-related conditionUncertain significance
(Jan 26, 2023)
criteria provided, single submitter
26.
GRCh37:
Chr4:73944456
GRCh38:
Chr4:73078739
ANKRD17Q2186H, Q2324H, Q2436H, Q2437Hnot providedUncertain significance
(Nov 21, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr4:73944467
GRCh38:
Chr4:73078750
ANKRD17R2183G, R2321G, R2433G, R2434GChopra-Amiel-Gordon syndromeLikely pathogenic
(Mar 1, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr4:73944520
GRCh38:
Chr4:73078803
ANKRD17N2303S, N2415S, N2165S, N2416Snot providedUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr4:73944592
GRCh38:
Chr4:73078875
ANKRD17S2141L, S2391L, S2279L, S2392LInborn genetic diseasesLikely benign
(Feb 15, 2023)
criteria provided, single submitter
30.
GRCh37:
Chr4:73950968
GRCh38:
Chr4:73085251
ANKRD17N2135S, N2273S, N2385S, N2386Snot providedUncertain significance
(Feb 21, 2023)
criteria provided, single submitter
31.
GRCh37:
Chr4:73951064
GRCh38:
Chr4:73085347
ANKRD17P2241L, P2354L, P2103L, P2353LInborn genetic diseasesUncertain significance
(Jul 19, 2023)
criteria provided, single submitter
32.
GRCh37:
Chr4:73951085
GRCh38:
Chr4:73085368
ANKRD17S2096L, S2234L, S2346L, S2347LANKRD17-related condition, See casesUncertain significance
(Sep 20, 2023)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr4:73951106
GRCh38:
Chr4:73085389
ANKRD17G2089E, G2227E, G2339E, G2340Enot providedUncertain significance
(Sep 15, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr4:73951151
GRCh38:
Chr4:73085434
ANKRD17M2212T, M2325T, M2324T, M2074TInborn genetic diseasesLikely benign
(Feb 27, 2023)
criteria provided, single submitter
35.
GRCh37:
Chr4:73951158
GRCh38:
Chr4:73085441
ANKRD17V2210I, V2323I, V2072I, V2322IInborn genetic diseasesUncertain significance
(May 18, 2023)
criteria provided, single submitter
36.
GRCh37:
Chr4:73956382
GRCh38:
Chr4:73090665
ANKRD17Chopra-Amiel-Gordon syndromeUncertain significance
(Jun 2, 2022)
no assertion criteria provided
37.
GRCh37:
Chr4:73956498
GRCh38:
Chr4:73090781
ANKRD17M2282V, M2283V, M2032V, M2170VInborn genetic diseasesUncertain significance
(Jun 21, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr4:73956500
GRCh38:
Chr4:73090783
ANKRD17S2169C, S2031C, S2281C, S2282CInborn genetic diseasesUncertain significance
(Feb 22, 2023)
criteria provided, single submitter
39.
GRCh37:
Chr4:73956507
GRCh38:
Chr4:73090790
ANKRD17P2280T, P2279T, P2167T, P2029TInborn genetic diseasesUncertain significance
(May 18, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr4:73956554
GRCh38:
Chr4:73090837
ANKRD17S2263F, S2264F, S2151F, S2013FInborn genetic diseasesUncertain significance
(Dec 3, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr4:73956626
GRCh38:
Chr4:73090909
ANKRD17P1989R, P2127R, P2239R, P2240RChopra-Amiel-Gordon syndromeLikely pathogenic
(Feb 8, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr4:73956770
GRCh38:
Chr4:73091053
ANKRD17S2191L, S1941L, S2192L, S2079LInborn genetic diseasesUncertain significance
(Dec 21, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr4:73956771
GRCh38:
Chr4:73091054
ANKRD17S2079P, S2191P, S2192P, S1941PInborn genetic diseasesLikely benign
(Dec 21, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr4:73956891
GRCh38:
Chr4:73091174
ANKRD17T2151A, T1901A, T2039A, T2152AInborn genetic diseasesUncertain significance
(May 3, 2023)
criteria provided, single submitter
45.
GRCh37:
Chr4:73956932
GRCh38:
Chr4:73091215
ANKRD17P1887L, P2025L, P2137L, P2138Lnot providedUncertain significance
(Nov 23, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr4:73956953
GRCh38:
Chr4:73091236
ANKRD17P1880L, P2018L, P2130L, P2131LInborn genetic diseasesLikely benign
(Mar 31, 2023)
criteria provided, single submitter
47.
GRCh37:
Chr4:73956957
GRCh38:
Chr4:73091240
ANKRD17P1879A, P2017A, P2129A, P2130Anot providedBenign
(Jun 1, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr4:73956957
GRCh38:
Chr4:73091240
ANKRD17P1879S, P2017S, P2129S, P2130SANKRD17-related conditionUncertain significance
(Sep 2, 2023)
criteria provided, single submitter
49.
GRCh37:
Chr4:73956968
GRCh38:
Chr4:73091251
ANKRD17S1875C, S2126C, S2125C, S2013CInborn genetic diseasesLikely benign
(Mar 31, 2023)
criteria provided, single submitter
50.
GRCh37:
Chr4:73957044
GRCh38:
Chr4:73091327
ANKRD17S1988G, S2101G, S1850G, S2100Gnot providedUncertain significance
(Jun 8, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr4:73957067
GRCh38:
Chr4:73091350
ANKRD17P2092L, P1980L, P2093L, P1842LInborn genetic diseasesUncertain significance
(Aug 4, 2023)
criteria provided, single submitter
52.
GRCh37:
Chr4:73957181
GRCh38:
Chr4:73091464
ANKRD17V1804A, V1942A, V2054A, V2055AInborn genetic diseasesUncertain significance
(Jan 31, 2023)
criteria provided, single submitter
53.
GRCh37:
Chr4:73957185
GRCh38:
Chr4:73091468
ANKRD17G1803R, G1941R, G2053R, G2054RChopra-Amiel-Gordon syndromeUncertain significance
(Dec 9, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr4:73957187
GRCh38:
Chr4:73091470
ANKRD17G1802E, G2052E, G2053E, G1940EInborn genetic diseasesUncertain significance
(Apr 7, 2023)
criteria provided, single submitter
55.
GRCh37:
Chr4:73957425
GRCh38:
Chr4:73091708
ANKRD17S1861G, S1974G, S1723G, S1973GInborn genetic diseasesUncertain significance
(Apr 27, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr4:73957519
GRCh38:
Chr4:73091802
ANKRD17K1691N, K1829N, K1941N, K1942NANKRD17-related conditionUncertain significance
(Aug 19, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr4:73957521
GRCh38:
Chr4:73091804
ANKRD17K1691Q, K1829Q, K1941Q, K1942QANKRD17-related conditionUncertain significance
(Sep 14, 2023)
criteria provided, single submitter
58.
GRCh37:
Chr4:73957577
GRCh38:
Chr4:73091860
ANKRD17T1672I, T1810I, T1922I, T1923Inot providedUncertain significance
(Jun 21, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr4:73957588-73957589
GRCh38:
Chr4:73091871-73091872
ANKRD17A1669fs, A1920fs, A1807fs, A1919fsIntellectual disabilityLikely pathogenic
(Oct 11, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr4:73957707
GRCh38:
Chr4:73091990
ANKRD17S1629P, S1767P, S1879P, S1880PChopra-Amiel-Gordon syndromeLikely pathogenic
(Mar 1, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr4:73957754
GRCh38:
Chr4:73092037
ANKRD17K1613R, K1751R, K1863R, K1864Rnot providedUncertain significance
(Mar 22, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr4:73957769
GRCh38:
Chr4:73092052
ANKRD17S1858C, S1859C, S1608C, S1746Cnot providedUncertain significance
(Sep 10, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr4:73957793
GRCh38:
Chr4:73092076
ANKRD17A1851V, A1600V, A1738V, A1850VInborn genetic diseasesUncertain significance
(May 23, 2023)
criteria provided, single submitter
64.
GRCh37:
Chr4:73957827
GRCh38:
Chr4:73092110
ANKRD17V1839I, V1840I, V1589I, V1727IInborn genetic diseasesUncertain significance
(Dec 6, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr4:73957982-73957985
GRCh38:
Chr4:73092265-73092268
ANKRD17Q1536fs, Q1674fs, Q1786fs, Q1787fsChopra-Amiel-Gordon syndromePathogenic
(Oct 7, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr4:73962895
GRCh38:
Chr4:73097178
ANKRD17T1455P, T1593P, T1705P, T1706Pnot providedUncertain significance
(May 9, 2023)
criteria provided, single submitter
67.
GRCh37:
Chr4:73962942
GRCh38:
Chr4:73097225
ANKRD17C1439Y, C1577Y, C1689Y, C1690Ynot providedUncertain significance
(Feb 10, 2023)
criteria provided, single submitter
68.
GRCh37:
Chr4:73962976
GRCh38:
Chr4:73097259
ANKRD17I1428V, I1566V, I1679V, I1678VInborn genetic diseasesLikely benign
(Nov 8, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr4:73963787
GRCh38:
Chr4:73098070
ANKRD17Inborn genetic diseasesUncertain significance
(Jul 8, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr4:73963837
GRCh38:
Chr4:73098120
ANKRD17not providedBenign
(Aug 1, 2023)
criteria provided, single submitter
71.
GRCh37:
Chr4:73963860
GRCh38:
Chr4:73098143
ANKRD17K1538E, K1650E, K1651E, K1400EInborn genetic diseasesUncertain significance
(Aug 20, 2023)
criteria provided, single submitter
72.
GRCh37:
Chr4:73963889
GRCh38:
Chr4:73098172
ANKRD17A1640V, A1528V, A1390V, A1641VInborn genetic diseasesUncertain significance
(Dec 12, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr4:73963898
GRCh38:
Chr4:73098181
ANKRD17H1638R, H1525R, H1637R, H1387RInborn genetic diseasesUncertain significance
(Apr 17, 2023)
criteria provided, single submitter
74.
GRCh37:
Chr4:73963949
GRCh38:
Chr4:73098232
ANKRD17S1370N, S1508N, S1620N, S1621NInborn genetic diseasesUncertain significance
(Feb 25, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr4:73963983
GRCh38:
Chr4:73098266
ANKRD17E1359*, E1497*, E1609*, E1610*Chopra-Amiel-Gordon syndromeLikely pathogenic
(Jan 3, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr4:73964081
GRCh38:
Chr4:73098364
ANKRD17T1576I, T1326I, T1577I, T1464IInborn genetic diseasesUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr4:73964235
GRCh38:
Chr4:73098518
ANKRD17E1275Q, E1525Q, E1413Q, E1526QInborn genetic diseasesLikely benign
(Apr 19, 2023)
criteria provided, single submitter
78.
GRCh37:
Chr4:73964237
GRCh38:
Chr4:73098520
ANKRD17D1274G, D1412G, D1524G, D1525GChopra-Amiel-Gordon syndromeUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr4:73968118
GRCh38:
Chr4:73102401
ANKRD17not providedLikely benign
(May 1, 2023)
criteria provided, single submitter
80.
GRCh37:
Chr4:73968123
GRCh38:
Chr4:73102406
ANKRD17A1264T, A1402T, A1514T, A1515TANKRD17-related conditionUncertain significance
(Nov 30, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr4:73968134
GRCh38:
Chr4:73102417
ANKRD17E1398A, E1260A, E1510A, E1511AInborn genetic diseasesUncertain significance
(Feb 28, 2023)
criteria provided, single submitter
82.
GRCh37:
Chr4:73968138
GRCh38:
Chr4:73102421
ANKRD17F1259L, F1397L, F1510L, F1509LInborn genetic diseasesUncertain significance
(Oct 25, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr4:73968200-73968204
GRCh38:
Chr4:73102483-73102487
ANKRD17R1237fs, R1488fs, R1375fs, R1487fsnot providedPathogenic
(Jul 26, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr4:73968229
GRCh38:
Chr4:73102512
ANKRD17not providedLikely benign
(May 1, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr4:73979566-73979569
GRCh38:
Chr4:73113849-73113852
ANKRD17Q1197fs, Q1335fs, Q1447fs, Q1448fsChopra-Amiel-Gordon syndromePathogenic
(Aug 31, 2021)
no assertion criteria provided
86.
GRCh37:
Chr4:73984502
GRCh38:
Chr4:73118785
ANKRD17G1113A, G1251A, G1363AChopra-Amiel-Gordon syndromeLikely pathogeniccriteria provided, single submitter
87.
GRCh37:
Chr4:73984519
GRCh38:
Chr4:73118802
ANKRD17W1107*, W1245*, W1357*, W1358*Chopra-Amiel-Gordon syndromeLikely pathogenic
(Jun 8, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr4:73984527
GRCh38:
Chr4:73118810
ANKRD17P1105S, P1243S, P1355S, P1356SChopra-Amiel-Gordon syndromeUncertain significance
(Dec 15, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr4:73984556
GRCh38:
Chr4:73118839
ANKRD17I1095T, I1233T, I1345T, I1346TANKRD17-related conditionUncertain significance
(May 23, 2023)
criteria provided, single submitter
90.
GRCh37:
Chr4:73985897
GRCh38:
Chr4:73120180
ANKRD17C1085fs, C1223fs, C1335fs, C1336fsnot providedUncertain significance
(Aug 28, 2019)
criteria provided, single submitter
91.
GRCh37:
Chr4:73985928
GRCh38:
Chr4:73120211
ANKRD17I1213V, I1075V, I1325V, I1326VInborn genetic diseasesUncertain significance
(Nov 22, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr4:73986659
GRCh38:
Chr4:73120942
ANKRD17G1012A, G1150A, G1262A, G1263AChopra-Amiel-Gordon syndromeUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr4:73986692
GRCh38:
Chr4:73120975
ANKRD17R1001Q, R1139Q, R1251Q, R1252Qnot providedUncertain significance
(Sep 11, 2023)
criteria provided, single submitter
94.
GRCh37:
Chr4:73986693-73986696
GRCh38:
Chr4:73120976-73120979
ANKRD17N1000fs, N1138fs, N1250fs, N1251fsChopra-Amiel-Gordon syndromePathogenic
(Feb 21, 2023)
criteria provided, single submitter
95.
GRCh37:
Chr4:73987337
GRCh38:
Chr4:73121620
ANKRD17S1098F, S1210F, S1211F, S960Fnot providedUncertain significance
(Jan 5, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr4:73987412
GRCh38:
Chr4:73121695
ANKRD17P1073R, P1185R, P1186R, P935RChopra-Amiel-Gordon syndromeLikely pathogenic
(Mar 1, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr4:73990659
GRCh38:
Chr4:73124942
ANKRD17S1042T, S1154T, S1155T, S904TNeurodevelopmental delayLikely pathogeniccriteria provided, single submitter
98.
GRCh37:
Chr4:73990763
GRCh38:
Chr4:73125046
ANKRD17L1007R, L1119R, L1120R, L869RChopra-Amiel-Gordon syndromeLikely pathogenic
(Mar 1, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr4:73990993
GRCh38:
Chr4:73125276
ANKRD17C1090fs, C1091fs, C840fs, C978fsSpeech delay, DysmorphismLikely pathogenic
(Aug 9, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr4:74000946
GRCh38:
Chr4:73135229
ANKRD17P1041L, P790L, P1040L, P928LInborn genetic diseasesUncertain significance
(Feb 6, 2023)
criteria provided, single submitter
Format
Items per page
Sort by
Choose Destination