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Items: 1 to 100 of 354

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:
Chr4:67833055-82716065
SHROOM3, SHROOM3-AS1, SLC4A4, SMR3A, SMR3B, SNORD161, SOWAHB, TMPRSS11E, TMPRSS11F, TMPRSS11B, TMPRSS11D, UGT2A1, UGT2A2, UGT2A3, THAP6, TMEM150C, STATH, STBD1, TMPRSS11A, SULT1B1, SULT1E1, 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, DCK, ENAM, ENOPH1, EPGN, EREG, FAM47E, FAM47E-STBD1, FDCSP, FGF5, FRAS1, G3BP2, GC, GK2, GRSF1, HNRNPD, HNRNPD-DT, HNRNPDL, HTN1, 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, UGT2B10, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UMLILO, USO1, UTP3, YTHDC1
See casesPathogenic
(May 11, 2022)
criteria provided, single submitter
3.
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
4.
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
5.
GRCh37:
Chr4:76378321-85015448
GRCh38:
Chr4:75453111-84094295
LOC129992733, LOC129992734, LOC129992735, LOC129992736, LOC129992737, LOC129992738, LOC129992739, LOC129992740, LOC129992741, LOC129992742, LOC129992743, LOC129992744, LOC129992745, LOC129992746, LOC129992747, LOC129992748, LOC129992749, LOC129992750, LOC129992751, LOC129992752, LOC129992753, LOC129992754, LOC129992755, LOC129992756, LOC129992757, LOC129992758, LOC129992759, LOC129992760, LOC129992761, LOC129992762, LOC129992763, LOC129992764, LOC129992765, LOC129992766, LOC129992767, LOC129992768, LOC129992769, LOC129992770, LOC129992771, LOC129992772, LOC129992773, LOC129992774, LOC129992775, LOC129992776, LOC129992777, LOC129992778, LOC129992779, LOC129992780, LOC129992781, LOC129992782, LOC129992783, LOC129992784, LOC129992785, LOC129992786, MIR4450, MIR548AH, MIR575, MRPL1, MRPS18C, NAA11, NAAA, NUP54, ODAPH, PAQR3, PCAT4, PLAC8, PPEF2, PRDM8, PRDM8-AS1, PRKG2, PRKG2-AS1, RASGEF1B, RCHY1, SCARB2, SCD5, SDAD1, SDAD1-AS1, SEC31A, SEPTIN11, SHROOM3, SHROOM3-AS1, SNORD143, SNORD144, SNORD161, SOWAHB, STBD1, THAP6, THAP9, THAP9-AS1, TMEM150C, USO1, ABRAXAS1, ANTXR2, ANXA3, ART3, BMP2K, BMP2K-DT, BMP3, CCDC158, CCNG2, CCNI, CDKL2, CFAP299, CNOT6L, COPS4, COQ2, CXCL10, CXCL11, CXCL13, CXCL9, ENOPH1, FAM47E, FAM47E-STBD1, FGF5, FRAS1, G3BP2, GK2, GPAT3, HELQ, HNRNPD, HNRNPD-DT, HNRNPDL, HPSE, LIN54, LINC00575, LINC00989, LINC01088, LINC01094, LINC02994, LOC101928893, LOC110120752, LOC111591506, LOC112997534, LOC112997535, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC112997542, LOC112997543, LOC112997544, LOC112997545, LOC116158497, LOC116158498, LOC116158499, LOC116158500, LOC116158501, LOC116158502, LOC116158503, LOC121053187, LOC121725173, LOC121725174, LOC121725175, LOC123477765, LOC123477766, LOC123477767, LOC123477768, LOC123477769, LOC123477770, LOC123477771, LOC123477772, LOC123477773, LOC123477774, LOC126807084, LOC126807085, LOC126807086, LOC126807087, LOC126807088, LOC126807089, LOC126807090, LOC126807091, LOC126807092, LOC126807093, LOC126807094, LOC126807095, LOC126807096, LOC126807097, LOC126807098, LOC126807099, LOC126807100, LOC129389220, LOC129389221, LOC129389222, LOC129389223, LOC129389224, LOC129992681, LOC129992682, LOC129992683, LOC129992684, LOC129992685, LOC129992686, LOC129992687, LOC129992688, LOC129992689, LOC129992690, LOC129992691, LOC129992692, LOC129992693, LOC129992694, LOC129992695, LOC129992696, LOC129992697, LOC129992698, LOC129992699, LOC129992700, LOC129992701, LOC129992702, LOC129992703, LOC129992704, LOC129992705, LOC129992706, LOC129992707, LOC129992708, LOC129992709, LOC129992710, LOC129992711, LOC129992712, LOC129992713, LOC129992714, LOC129992715, LOC129992716, LOC129992717, LOC129992718, LOC129992719, LOC129992720, LOC129992721, LOC129992722, LOC129992723, LOC129992724, LOC129992725, LOC129992726, LOC129992727, LOC129992728, LOC129992729, LOC129992730, LOC129992731, LOC129992732
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh38:
Chr4:79123548-99457773
ADH6, LOC123477775, LOC123477776, LOC129992789, SNCA, SNCA-AS1, SNORD143, SPP1, LOC129992799, LOC129992800, LOC129992801, LOC129992792, LOC129992793, LOC129992794, LOC129992795, STPG2, THAP9, SNORD144, STPG2-AS1, THAP9-AS1, LOC123477777, LOC123477778, LOC123477779, LOC123477780, LOC123477781, LOC123477782, LOC123477783, LOC123477784, LOC123477785, LOC123477786, LOC123477787, LOC123477788, AFF1, LOC123477789, LOC123477790, LOC123477791, LOC123477792, SPARCL1, LOC129992790, LOC129992791, LOC129992796, LOC129992797, LOC129992798, ADH7, AFF1-AS1, ANTXR2, ARHGAP24, ATOH1, BMP3, BMPR1B, ABCG2, ABRAXAS1, ADH1A, ADH1B, ADH1C, ADH4, ADH5, BMPR1B-DT, C4orf36, CCSER1, CDS1, CFAP299, COPS4, COQ2, DMP1, DSPP, EIF4E, ENOPH1, FAM13A, FAM13A-AS1, FGF5, GK2, GPAT3, GPRIN3, GRID2, HELQ, HERC3, HERC5, HERC6, HNRNPD, HNRNPD-DT, HNRNPDL, HPGDS, HPSE, HSD17B11, HSD17B13, IBSP, KLHL8, LIN54, LINC00575, LINC00989, LINC01088, LINC02267, LINC02994, LNCPRESS2, LOC100507053, LOC107988048, LOC110120743, LOC110120752, LOC110121083, LOC110121104, LOC110283621, LOC110351180, LOC111188164, LOC111216272, LOC111216273, LOC111216288, LOC111216289, LOC111216290, LOC111216291, LOC111216292, LOC111240471, LOC111365205, LOC112935970, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC112997542, LOC112997543, LOC112997544, LOC112997545, LOC112997546, LOC112997547, LOC116158501, LOC116158502, LOC116158503, LOC116158504, LOC116158505, LOC121053188, LOC121053189, LOC121725174, LOC121725175, LOC121725176, LOC121725177, LOC121725178, LOC121725179, LOC123477770, LOC123477771, LOC123477772, LOC123477773, LOC123477774, LOC126807092, LOC126807093, LOC126807094, LOC126807095, LOC126807096, LOC126807097, LOC126807098, LOC126807099, LOC126807100, LOC126807101, LOC126807102, LOC126807103, LOC126807104, LOC126807105, LOC126807106, LOC126807107, LOC126807108, LOC126807109, LOC126807110, LOC126807111, LOC126807112, LOC126807113, LOC126807114, LOC126807115, LOC126807116, LOC126807117, LOC126807118, LOC126807119, LOC126807120, LOC126807121, LOC126807122, LOC126807123, LOC129389220, LOC129389221, LOC129389222, LOC129389223, LOC129389224, LOC129389225, LOC129389226, LOC129389227, LOC129389228, LOC129389229, LOC129992737, LOC129992738, LOC129992739, LOC129992740, LOC129992741, LOC129992742, LOC129992743, LOC129992744, LOC129992745, LOC129992746, LOC129992747, LOC129992748, LOC129992749, LOC129992750, LOC129992751, LOC129992752, LOC129992753, LOC129992754, LOC129992755, LOC129992756, LOC129992757, LOC129992758, LOC129992759, LOC129992760, LOC129992761, LOC129992762, LOC129992763, LOC129992764, LOC129992765, LOC129992766, LOC129992767, LOC129992768, LOC129992769, LOC129992770, LOC129992771, LOC129992772, LOC129992773, LOC129992774, LOC129992775, LOC129992776, LOC129992777, LOC129992778, LOC129992779, LOC129992780, LOC129992781, LOC129992782, LOC129992783, LOC129992784, LOC129992785, LOC129992786, LOC129992787, LOC129992788, LOC129992802, LOC129992803, LOC129992804, LOC129992805, LOC129992806, LOC129992807, LOC129992808, LOC129992809, LOC129992810, LOC129992811, LOC129992812, LOC129992813, LOC129992814, LOC129992815, LOC129992816, LOC129992817, LOC129992818, LOC129992819, LOC129992820, LOC129992821, LOC129992822, LOC129992823, LOC129992824, LOC129992825, LOC129992826, LOC129992827, LOC129992828, LOC129992829, LOC129992830, LOC129992831, LOC129992832, LOC129992833, LOC129992834, LOC129992835, LOC129992836, LOC129992837, LOC129992838, LOC129992839, LOC129992840, LOC129992841, LOC129992842, LOC129992843, LOC129992844, LOC129992845, LOC129992846, LOC129992847, LOC129992848, LOC129992849, LOC129992850, LOC129992851, LOC129992852, LOC129992853, LOC129992854, LOC129992855, LOC129992856, LOC129992857, MAPK10, MAPK10-AS1, MEPE, METAP1, MIR3684, MIR4451, MIR4452, MIR5705, MIR575, MMRN1, MRPS18C, NAA11, NAP1L5, NKX6-1, NUDT9, PCAT4, PDHA2, PDLIM5, PIGY, PIGY-DT, PKD2, PLAC8, PPM1K, PPM1K-DT, PRDM8, PRDM8-AS1, PRKG2, PRKG2-AS1, PTPN13, PYURF, RAP1GDS1, RASGEF1B, SCD5, SCPPPQ1, SEC31A, SLC10A6, SMARCAD1, SMARCAD1-DT, TIGD2, TMEM150C, TSPAN5, TSPAN5-DT, UNC5C, UNC5C-AS1, WDFY3, WDFY3-AS1, WDFY3-AS2
Chromosome 4q21 deletion syndromePathogenic
(Aug 24, 2023)
criteria provided, single submitter
7.
GRCh37:
Chr4:80496902-93333600
GRCh38:
Chr4:79575748-92412449
ABCG2, ABRAXAS1, AFF1, AFF1-AS1, ANTXR2, ARHGAP24, BMP3, C4orf36, CCSER1, CDS1, CFAP299, COPS4, COQ2, DMP1, DSPP, ENOPH1, FAM13A, FAM13A-AS1, FGF5, GPAT3, GPRIN3, GRID2, HELQ, HERC3, HERC5, HERC6, HNRNPD, HNRNPD-DT, HNRNPDL, HPSE, HSD17B11, HSD17B13, IBSP, KLHL8, LIN54, LINC00575, LINC00989, LINC02994, LNCPRESS2, LOC107988048, LOC110120743, LOC110120752, LOC110121083, LOC110283621, LOC110351180, LOC111365205, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC112997542, LOC112997543, LOC112997544, LOC112997545, LOC112997546, LOC116158501, LOC116158502, LOC116158503, LOC121053188, LOC121725174, LOC121725175, LOC121725176, LOC121725177, LOC121725178, LOC123477770, LOC123477771, LOC123477772, LOC123477773, LOC123477774, LOC123477775, LOC123477776, LOC123477777, LOC123477778, LOC123477779, LOC123477780, LOC123477781, LOC123477782, LOC123477783, LOC123477784, LOC123477785, LOC123477786, LOC123477787, LOC126807092, LOC126807093, LOC126807094, LOC126807095, LOC126807096, LOC126807097, LOC126807098, LOC126807099, LOC126807100, LOC126807101, LOC126807102, LOC126807103, LOC126807104, LOC126807105, LOC126807106, LOC126807107, LOC126807108, LOC126807109, LOC126807110, LOC126807111, LOC129389221, LOC129389222, LOC129389223, LOC129389224, LOC129389225, LOC129992737, LOC129992738, LOC129992739, LOC129992740, LOC129992741, LOC129992742, LOC129992743, LOC129992744, LOC129992745, LOC129992746, LOC129992747, LOC129992748, LOC129992749, LOC129992750, LOC129992751, LOC129992752, LOC129992753, LOC129992754, LOC129992755, LOC129992756, LOC129992757, LOC129992758, LOC129992759, LOC129992760, LOC129992761, LOC129992762, LOC129992763, LOC129992764, LOC129992765, LOC129992766, LOC129992767, LOC129992768, LOC129992769, LOC129992770, LOC129992771, LOC129992772, LOC129992773, LOC129992774, LOC129992775, LOC129992776, LOC129992777, LOC129992778, LOC129992779, LOC129992780, LOC129992781, LOC129992782, LOC129992783, LOC129992784, LOC129992785, LOC129992786, LOC129992787, LOC129992788, LOC129992789, LOC129992790, LOC129992791, LOC129992792, LOC129992793, LOC129992794, LOC129992795, LOC129992796, LOC129992797, LOC129992798, LOC129992799, LOC129992800, LOC129992801, LOC129992802, LOC129992803, LOC129992804, LOC129992805, LOC129992806, LOC129992807, LOC129992808, LOC129992809, LOC129992810, LOC129992811, LOC129992812, LOC129992813, LOC129992814, LOC129992815, LOC129992816, LOC129992817, LOC129992818, LOC129992819, LOC129992820, LOC129992821, LOC129992822, LOC129992823, LOC129992824, LOC129992825, LOC129992826, LOC129992827, LOC129992828, LOC129992829, LOC129992830, LOC129992831, LOC129992832, LOC129992833, LOC129992834, LOC129992835, LOC129992836, LOC129992837, LOC129992838, MAPK10, MAPK10-AS1, MEPE, MIR4451, MIR4452, MIR5705, MIR575, MMRN1, MRPS18C, NAP1L5, NKX6-1, NUDT9, PCAT4, PIGY, PIGY-DT, PKD2, PLAC8, PPM1K, PPM1K-DT, PRDM8, PRDM8-AS1, PRKG2, PRKG2-AS1, PTPN13, PYURF, RASGEF1B, SCD5, SCPPPQ1, SEC31A, SLC10A6, SNCA, SNCA-AS1, SNORD143, SNORD144, SPARCL1, SPP1, THAP9, THAP9-AS1, TIGD2, TMEM150C, WDFY3, WDFY3-AS1, WDFY3-AS2
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr4:80663766-84074878
GRCh38:
Chr4:79742612-83153725
See casesUncertain significance
(Dec 22, 2010)
no assertion criteria provided
9.
GRCh37:
Chr4:80707668-86753960
GRCh38:
Chr4:79786514-85832807
ABRAXAS1, ANTXR2, ARHGAP24, BMP3, CDS1, CFAP299, COPS4, COQ2, ENOPH1, FGF5, GPAT3, HELQ, HNRNPD, HNRNPD-DT, HNRNPDL, HPSE, LIN54, LINC00575, LINC02994, LOC107988048, LOC110120743, LOC110120752, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC112997542, LOC112997543, LOC112997544, LOC112997545, LOC116158501, LOC116158502, LOC116158503, LOC121725174, LOC121725175, LOC123477771, LOC123477772, LOC123477773, LOC123477774, LOC123477775, LOC123477776, LOC123477777, LOC126807092, LOC126807093, LOC126807094, LOC126807095, LOC126807096, LOC126807097, LOC126807098, LOC126807099, LOC126807100, LOC126807101, LOC126807102, LOC126807103, LOC126807104, LOC129389221, LOC129389222, LOC129389223, LOC129389224, LOC129992737, LOC129992738, LOC129992739, LOC129992740, LOC129992741, LOC129992742, LOC129992743, LOC129992744, LOC129992745, LOC129992746, LOC129992747, LOC129992748, LOC129992749, LOC129992750, LOC129992751, LOC129992752, LOC129992753, LOC129992754, LOC129992755, LOC129992756, LOC129992757, LOC129992758, LOC129992759, LOC129992760, LOC129992761, LOC129992762, LOC129992763, LOC129992764, LOC129992765, LOC129992766, LOC129992767, LOC129992768, LOC129992769, LOC129992770, LOC129992771, LOC129992772, LOC129992773, LOC129992774, LOC129992775, LOC129992776, LOC129992777, LOC129992778, LOC129992779, LOC129992780, LOC129992781, LOC129992782, LOC129992783, LOC129992784, LOC129992785, LOC129992786, LOC129992787, LOC129992788, LOC129992789, LOC129992790, LOC129992791, LOC129992792, LOC129992793, LOC129992794, MIR4451, MIR575, MRPS18C, NKX6-1, PCAT4, PLAC8, PRDM8, PRDM8-AS1, PRKG2, PRKG2-AS1, RASGEF1B, SCD5, SEC31A, SNORD143, SNORD144, THAP9, THAP9-AS1, TMEM150C, WDFY3, WDFY3-AS1, WDFY3-AS2
See casesPathogenic
(Oct 14, 2010)
no assertion criteria provided
10.
GRCh37:
Chr4:80965103-87869469
GRCh38:
Chr4:80043949-86948317
ABRAXAS1, AFF1, AFF1-AS1, ANTXR2, ARHGAP24, BMP3, C4orf36, CDS1, CFAP299, COPS4, COQ2, ENOPH1, FGF5, GPAT3, HELQ, HNRNPD, HNRNPD-DT, HNRNPDL, HPSE, LIN54, LINC00575, LINC02994, LOC107988048, LOC110120743, LOC110120752, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC112997542, LOC112997543, LOC112997544, LOC112997545, LOC116158501, LOC116158502, LOC116158503, LOC121725174, LOC121725175, LOC123477771, LOC123477772, LOC123477773, LOC123477774, LOC123477775, LOC123477776, LOC123477777, LOC123477778, LOC126807092, LOC126807093, LOC126807094, LOC126807095, LOC126807096, LOC126807097, LOC126807098, LOC126807099, LOC126807100, LOC126807101, LOC126807102, LOC126807103, LOC126807104, LOC129389223, LOC129389224, LOC129992737, LOC129992738, LOC129992739, LOC129992740, LOC129992741, LOC129992742, LOC129992743, LOC129992744, LOC129992745, LOC129992746, LOC129992747, LOC129992748, LOC129992749, LOC129992750, LOC129992751, LOC129992752, LOC129992753, LOC129992754, LOC129992755, LOC129992756, LOC129992757, LOC129992758, LOC129992759, LOC129992760, LOC129992761, LOC129992762, LOC129992763, LOC129992764, LOC129992765, LOC129992766, LOC129992767, LOC129992768, LOC129992769, LOC129992770, LOC129992771, LOC129992772, LOC129992773, LOC129992774, LOC129992775, LOC129992776, LOC129992777, LOC129992778, LOC129992779, LOC129992780, LOC129992781, LOC129992782, LOC129992783, LOC129992784, LOC129992785, LOC129992786, LOC129992787, LOC129992788, LOC129992789, LOC129992790, LOC129992791, LOC129992792, LOC129992793, LOC129992794, LOC129992795, LOC129992796, LOC129992797, MAPK10, MAPK10-AS1, MIR4451, MIR4452, MIR575, MRPS18C, NKX6-1, PLAC8, PRDM8, PRDM8-AS1, PRKG2, PRKG2-AS1, PTPN13, RASGEF1B, SCD5, SEC31A, SLC10A6, SNORD143, SNORD144, THAP9, THAP9-AS1, TMEM150C, WDFY3, WDFY3-AS1, WDFY3-AS2
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
11.
GRCh37:
Chr4:81348177-101776598
GRCh38:
Chr4:80427023-100855441
ABCG2, ABRAXAS1, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, AFF1, AFF1-AS1, ARHGAP24, ATOH1, BMP3, BMPR1B, BMPR1B-DT, C4orf17, C4orf36, C4orf54, CCSER1, CDS1, CFAP299, COPS4, COQ2, DAPP1, DDIT4L, DDIT4L-AS1, DMP1, DNAJB14, DSPP, EIF4E, EMCN, ENOPH1, FAM13A, FAM13A-AS1, GPAT3, GPRIN3, GRID2, H2AZ1, H2AZ1-DT, HELQ, HERC3, HERC5, HERC6, HNRNPD, HNRNPD-DT, HNRNPDL, HPGDS, HPSE, HSD17B11, HSD17B13, IBSP, KLHL8, LAMTOR3, LIN54, LINC00575, LINC01216, LINC01217, LINC01218, LINC02267, LINC02994, LNCPRESS2, LOC100507053, LOC107988048, LOC110120743, LOC110120752, LOC110121083, LOC110121104, LOC110283621, LOC110351180, LOC111188164, LOC111216272, LOC111216273, LOC111216288, LOC111216289, LOC111216290, LOC111216291, LOC111216292, LOC111240471, LOC111365205, LOC112935970, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC112997542, LOC112997543, LOC112997544, LOC112997545, LOC112997546, LOC112997547, LOC116158504, LOC116158505, LOC121053188, LOC121053189, LOC121725174, LOC121725175, LOC121725176, LOC121725177, LOC121725178, LOC121725179, LOC123477772, LOC123477773, LOC123477774, LOC123477775, LOC123477776, LOC123477777, LOC123477778, LOC123477779, LOC123477780, LOC123477781, LOC123477782, LOC123477783, LOC123477784, LOC123477785, LOC123477786, LOC123477787, LOC123477788, LOC123477789, LOC123477790, LOC123477791, LOC123477792, LOC126807095, LOC126807096, LOC126807097, LOC126807098, LOC126807099, LOC126807100, LOC126807101, LOC126807102, LOC126807103, LOC126807104, LOC126807105, LOC126807106, LOC126807107, LOC126807108, LOC126807109, LOC126807110, LOC126807111, LOC126807112, LOC126807113, LOC126807114, LOC126807115, LOC126807116, LOC126807117, LOC126807118, LOC126807119, LOC126807120, LOC126807121, LOC126807122, LOC126807123, LOC126807124, LOC129389223, LOC129389224, LOC129389225, LOC129389226, LOC129389227, LOC129389228, LOC129389229, LOC129992747, LOC129992748, LOC129992749, LOC129992750, LOC129992751, LOC129992752, LOC129992753, LOC129992754, LOC129992755, LOC129992756, LOC129992757, LOC129992758, LOC129992759, LOC129992760, LOC129992761, LOC129992762, LOC129992763, LOC129992764, LOC129992765, LOC129992766, LOC129992767, LOC129992768, LOC129992769, LOC129992770, LOC129992771, LOC129992772, LOC129992773, LOC129992774, LOC129992775, LOC129992776, LOC129992777, LOC129992778, LOC129992779, LOC129992780, LOC129992781, LOC129992782, LOC129992783, LOC129992784, LOC129992785, LOC129992786, LOC129992787, LOC129992788, LOC129992789, LOC129992790, LOC129992791, LOC129992792, LOC129992793, LOC129992794, LOC129992795, LOC129992796, LOC129992797, LOC129992798, LOC129992799, LOC129992800, LOC129992801, LOC129992802, LOC129992803, LOC129992804, LOC129992805, LOC129992806, LOC129992807, LOC129992808, LOC129992809, LOC129992810, LOC129992811, LOC129992812, LOC129992813, LOC129992814, LOC129992815, LOC129992816, LOC129992817, LOC129992818, LOC129992819, LOC129992820, LOC129992821, LOC129992822, LOC129992823, LOC129992824, LOC129992825, LOC129992826, LOC129992827, LOC129992828, LOC129992829, LOC129992830, LOC129992831, LOC129992832, LOC129992833, LOC129992834, LOC129992835, LOC129992836, LOC129992837, LOC129992838, LOC129992839, LOC129992840, LOC129992841, LOC129992842, LOC129992843, LOC129992844, LOC129992845, LOC129992846, LOC129992847, LOC129992848, LOC129992849, LOC129992850, LOC129992851, LOC129992852, LOC129992853, LOC129992854, LOC129992855, LOC129992856, LOC129992857, LOC129992858, LOC129992859, LOC129992860, LOC129992861, LOC129992862, LOC129992863, LOC129992864, LOC129992865, LOC132088988, LOC132090708, MAPK10, MAPK10-AS1, MEPE, METAP1, MIR3684, MIR4451, MIR4452, MIR5705, MIR575, MMRN1, MRPS18C, MTTP, NAP1L5, NKX6-1, NUDT9, PDHA2, PDLIM5, PIGY, PIGY-DT, PKD2, PLAC8, PPM1K, PPM1K-DT, PRKG2, PRKG2-AS1, PTPN13, PYURF, RAP1GDS1, RASGEF1B, SCD5, SCPPPQ1, SEC31A, SLC10A6, SMARCAD1, SMARCAD1-DT, SNCA, SNCA-AS1, SNORA101A, SNORD143, SNORD144, SPARCL1, SPP1, STPG2, STPG2-AS1, THAP9, THAP9-AS1, TIGD2, TMEM150C, TRMT10A, TSPAN5, TSPAN5-DT, UNC5C, UNC5C-AS1, WDFY3, WDFY3-AS1, WDFY3-AS2
See casesPathogenic
(Mar 21, 2011)
no assertion criteria provided
12.
GRCh37:
Chr4:81800931-95730598
GRCh38:
Chr4:80879777-94809447
ABCG2, ABRAXAS1, AFF1, AFF1-AS1, ARHGAP24, ATOH1, BMP3, BMPR1B, BMPR1B-DT, C4orf36, CCSER1, CDS1, CFAP299, COPS4, COQ2, DMP1, DSPP, ENOPH1, FAM13A, FAM13A-AS1, GPAT3, GPRIN3, GRID2, HELQ, HERC3, HERC5, HERC6, HNRNPD, HNRNPD-DT, HNRNPDL, HPGDS, HPSE, HSD17B11, HSD17B13, IBSP, KLHL8, LIN54, LINC00575, LINC02994, LNCPRESS2, LOC107988048, LOC110120743, LOC110120752, LOC110121083, LOC110121104, LOC110283621, LOC110351180, LOC111365205, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC112997542, LOC112997543, LOC112997544, LOC112997545, LOC112997546, LOC112997547, LOC121053188, LOC121725174, LOC121725175, LOC121725176, LOC121725177, LOC121725178, LOC123477772, LOC123477773, LOC123477774, LOC123477775, LOC123477776, LOC123477777, LOC123477778, LOC123477779, LOC123477780, LOC123477781, LOC123477782, LOC123477783, LOC123477784, LOC123477785, LOC123477786, LOC123477787, LOC123477788, LOC123477789, LOC126807095, LOC126807096, LOC126807097, LOC126807098, LOC126807099, LOC126807100, LOC126807101, LOC126807102, LOC126807103, LOC126807104, LOC126807105, LOC126807106, LOC126807107, LOC126807108, LOC126807109, LOC126807110, LOC126807111, LOC126807112, LOC129389223, LOC129389224, LOC129389225, LOC129992747, LOC129992748, LOC129992749, LOC129992750, LOC129992751, LOC129992752, LOC129992753, LOC129992754, LOC129992755, LOC129992756, LOC129992757, LOC129992758, LOC129992759, LOC129992760, LOC129992761, LOC129992762, LOC129992763, LOC129992764, LOC129992765, LOC129992766, LOC129992767, LOC129992768, LOC129992769, LOC129992770, LOC129992771, LOC129992772, LOC129992773, LOC129992774, LOC129992775, LOC129992776, LOC129992777, LOC129992778, LOC129992779, LOC129992780, LOC129992781, LOC129992782, LOC129992783, LOC129992784, LOC129992785, LOC129992786, LOC129992787, LOC129992788, LOC129992789, LOC129992790, LOC129992791, LOC129992792, LOC129992793, LOC129992794, LOC129992795, LOC129992796, LOC129992797, LOC129992798, LOC129992799, LOC129992800, LOC129992801, LOC129992802, LOC129992803, LOC129992804, LOC129992805, LOC129992806, LOC129992807, LOC129992808, LOC129992809, LOC129992810, LOC129992811, LOC129992812, LOC129992813, LOC129992814, LOC129992815, LOC129992816, LOC129992817, LOC129992818, LOC129992819, LOC129992820, LOC129992821, LOC129992822, LOC129992823, LOC129992824, LOC129992825, LOC129992826, LOC129992827, LOC129992828, LOC129992829, LOC129992830, LOC129992831, LOC129992832, LOC129992833, LOC129992834, LOC129992835, LOC129992836, LOC129992837, LOC129992838, LOC129992839, LOC129992840, LOC129992841, LOC129992842, LOC129992843, LOC129992844, LOC129992845, MAPK10, MAPK10-AS1, MEPE, MIR4451, MIR4452, MIR5705, MIR575, MMRN1, MRPS18C, NAP1L5, NKX6-1, NUDT9, PDLIM5, PIGY, PIGY-DT, PKD2, PLAC8, PPM1K, PPM1K-DT, PRKG2, PRKG2-AS1, PTPN13, PYURF, RASGEF1B, SCD5, SCPPPQ1, SEC31A, SLC10A6, SMARCAD1, SMARCAD1-DT, SNCA, SNCA-AS1, SNORD143, SNORD144, SPARCL1, SPP1, THAP9, THAP9-AS1, TIGD2, TMEM150C, WDFY3, WDFY3-AS1, WDFY3-AS2
See casesPathogenic
(Jan 5, 2011)
no assertion criteria provided
13.
GRCh37:
Chr4:81829170-85250763
GRCh38:
Chr4:80908016-84329610
See casesLikely pathogenic
(Jan 13, 2012)
no assertion criteria provided
14.
GRCh37:
Chr4:81982637-84253748
GRCh38:
Chr4:81061483-83332595
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
15.
GRCh37:
Chr4:82597002-84891563
GRCh38:
Chr4:81675848-83970410
See casesLikely pathogenic
(Sep 26, 2012)
no assertion criteria provided
16.
GRCh37:
Chr4:82654487-84369995
GRCh38:
Chr4:81733333-83448842
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
17.
GRCh37:
Chr4:82723161-84358267
GRCh38:
Chr4:81802008-83437114
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
18.
GRCh37:
Chr4:83347106
GRCh38:
Chr4:82425953
HNRNPDLnot providedBenign
(May 16, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr4:83347227
GRCh38:
Chr4:82426074
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Nov 1, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr4:83347238-83347239
GRCh38:
Chr4:82426085-82426086
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Feb 2, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr4:83347266
GRCh38:
Chr4:82426113
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GBenign
(Oct 30, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr4:83347272
GRCh38:
Chr4:82426119
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Dec 9, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr4:83347286
GRCh38:
Chr4:82426133
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr4:83347291
GRCh38:
Chr4:82426138
HNRNPDLnot providedLikely benign
(Jul 12, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr4:83347298
GRCh38:
Chr4:82426145
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Mar 11, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr4:83347310-83347313
GRCh38:
Chr4:82426157-82426160
HNRNPDLnot providedBenign
(May 12, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr4:83347603-83347604
GRCh38:
Chr4:82426450-82426451
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Sep 9, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr4:83347618
GRCh38:
Chr4:82426465
HNRNPDLS397NAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Jul 25, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr4:83347653
GRCh38:
Chr4:82426500
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr4:83347666
GRCh38:
Chr4:82426513
HNRNPDLG381VAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr4:83347672
GRCh38:
Chr4:82426519
HNRNPDLY379CAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Jan 11, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr4:83347676
GRCh38:
Chr4:82426523
HNRNPDLD378Hnot provided, Autosomal dominant limb-girdle muscular dystrophy type 1GPathogenic/Likely pathogenic
(Jun 15, 2023)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr4:83347676
GRCh38:
Chr4:82426523
HNRNPDLD378NAutosomal dominant limb-girdle muscular dystrophy type 1GConflicting interpretations of pathogenicity
(Sep 19, 2022)
criteria provided, conflicting interpretations
34.
GRCh37:
Chr4:83347681
GRCh38:
Chr4:82426528
HNRNPDLG376EAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Jun 27, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr4:83347683
GRCh38:
Chr4:82426530
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Oct 14, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr4:83347700
GRCh38:
Chr4:82426547
HNRNPDLN370Hnot providedUncertain significance
(Aug 1, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr4:83347703
GRCh38:
Chr4:82426550
HNRNPDLQ369EAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Sep 7, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr4:83347711
GRCh38:
Chr4:82426558
HNRNPDLG366AAutosomal dominant limb-girdle muscular dystrophy type 1GConflicting interpretations of pathogenicity
(Sep 13, 2022)
criteria provided, conflicting interpretations
39.
GRCh37:
Chr4:83347716
GRCh38:
Chr4:82426563
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Mar 8, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr4:83347718
GRCh38:
Chr4:82426565
HNRNPDLA364TAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr4:83347723
GRCh38:
Chr4:82426570
HNRNPDLN362SInborn genetic diseasesUncertain significance
(Jul 26, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr4:83347746
GRCh38:
Chr4:82426593
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Jun 20, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr4:83347759
GRCh38:
Chr4:82426606
HNRNPDLF350SAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Jun 27, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr4:83347800
GRCh38:
Chr4:82426647
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Dec 30, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr4:83347842-83347843
GRCh38:
Chr4:82426689-82426690
HNRNPDLnot providedBenign
(May 12, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr4:83347991
GRCh38:
Chr4:82426838
HNRNPDLnot providedBenign
(May 12, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr4:83348327
GRCh38:
Chr4:82427174
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GBenign
(Aug 21, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr4:83348334
GRCh38:
Chr4:82427181
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Aug 15, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr4:83348336
GRCh38:
Chr4:82427183
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Oct 20, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr4:83348337
GRCh38:
Chr4:82427184
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Oct 31, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr4:83348346
GRCh38:
Chr4:82427193
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Sep 27, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr4:83348352
GRCh38:
Chr4:82427199
HNRNPDLR338CAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr4:83348364-83348384
GRCh38:
Chr4:82427211-82427231
HNRNPDLnot providedUncertain significance
(Aug 4, 2020)
criteria provided, single submitter
54.
GRCh37:
Chr4:83348366
GRCh38:
Chr4:82427213
HNRNPDLG333DAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Feb 27, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr4:83348375
GRCh38:
Chr4:82427222
HNRNPDLG330AAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(May 3, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr4:83348378
GRCh38:
Chr4:82427225
HNRNPDLA329VAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr4:83348379
GRCh38:
Chr4:82427226
HNRNPDLA329PAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Jun 20, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr4:83348395
GRCh38:
Chr4:82427242
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Mar 26, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr4:83348401-83348403
GRCh38:
Chr4:82427248-82427250
HNRNPDLQ321delAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Mar 27, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr4:83348401
GRCh38:
Chr4:82427248
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Jun 21, 2020)
criteria provided, single submitter
61.
GRCh37:
Chr4:83348405-83348410
GRCh38:
Chr4:82427252-82427257
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Sep 17, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr4:83348425
GRCh38:
Chr4:82427272
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Feb 4, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr4:83348449
GRCh38:
Chr4:82427296
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Aug 23, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr4:83348456
GRCh38:
Chr4:82427303
HNRNPDLC303FAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr4:83348461
GRCh38:
Chr4:82427308
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Jun 7, 2020)
criteria provided, single submitter
66.
GRCh37:
Chr4:83348462
GRCh38:
Chr4:82427309
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Aug 20, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr4:83348465
GRCh38:
Chr4:82427312
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GBenign
(Nov 3, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr4:83348472
GRCh38:
Chr4:82427319
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Mar 29, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr4:83348567
GRCh38:
Chr4:82427414
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Dec 9, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr4:83348574
GRCh38:
Chr4:82427421
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Oct 14, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr4:83348607
GRCh38:
Chr4:82427454
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Jul 16, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr4:83348610
GRCh38:
Chr4:82427457
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Sep 26, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr4:83348618
GRCh38:
Chr4:82427465
HNRNPDLE292KAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Jun 20, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr4:83348624
GRCh38:
Chr4:82427471
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(May 29, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr4:83348635
GRCh38:
Chr4:82427482
HNRNPDLP286LInborn genetic diseasesUncertain significance
(Jan 7, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr4:83348644
GRCh38:
Chr4:82427491
HNRNPDLD283GAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr4:83348647
GRCh38:
Chr4:82427494
HNRNPDLT282SAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Jun 2, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr4:83348649
GRCh38:
Chr4:82427496
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Apr 16, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr4:83348652
GRCh38:
Chr4:82427499
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Apr 27, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr4:83348652
GRCh38:
Chr4:82427499
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GBenign
(Oct 30, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr4:83348661
GRCh38:
Chr4:82427508
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Aug 8, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr4:83348677-83348678
GRCh38:
Chr4:82427524-82427525
HNRNPDLE272IAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Aug 14, 2021)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr4:83348680-83348683
GRCh38:
Chr4:82427527-82427530
HNRNPDLT270fsAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Apr 15, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr4:83348699
GRCh38:
Chr4:82427546
HNRNPDLP265AAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr4:83348729
GRCh38:
Chr4:82427576
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Aug 6, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr4:83348732
GRCh38:
Chr4:82427579
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Jun 24, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr4:83348733
GRCh38:
Chr4:82427580
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Jun 27, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr4:83348737
GRCh38:
Chr4:82427584
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Jun 27, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr4:83348898
GRCh38:
Chr4:82427745
HNRNPDLnot providedBenign
(May 12, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr4:83348978
GRCh38:
Chr4:82427825
HNRNPDLnot providedBenign
(May 12, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr4:83349160
GRCh38:
Chr4:82428007
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Mar 4, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr4:83349168
GRCh38:
Chr4:82428015
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Mar 4, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr4:83349179
GRCh38:
Chr4:82428026
HNRNPDLF256IAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(May 18, 2019)
criteria provided, single submitter
94.
GRCh37:
Chr4:83349198
GRCh38:
Chr4:82428045
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Sep 16, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr4:83349200
GRCh38:
Chr4:82428047
HNRNPDLI249VAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr4:83349210
GRCh38:
Chr4:82428057
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Oct 15, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr4:83349211
GRCh38:
Chr4:82428058
HNRNPDLS245CAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Aug 15, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr4:83349213
GRCh38:
Chr4:82428060
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GBenign
(Oct 7, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr4:83349217
GRCh38:
Chr4:82428064
HNRNPDLD243GAutosomal dominant limb-girdle muscular dystrophy type 1GUncertain significance
(Sep 2, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr4:83349234
GRCh38:
Chr4:82428081
HNRNPDLAutosomal dominant limb-girdle muscular dystrophy type 1GLikely benign
(Nov 1, 2022)
criteria provided, single submitter
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