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Items: 1 to 100 of 345

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr4:52697788-98426769
GRCh38:
Chr4:51831622-97505618
LOC129389216, LOC129389217, LOC129389218, LOC129389219, LOC129389220, LOC129389221, LOC129389222, LOC129389223, LOC129389224, LOC129389225, LOC129389226, LOC129389227, LOC129389228, LOC129389229, LOC129992579, LOC129992580, LOC129992581, LOC129992582, LOC129992583, LOC129992584, LOC129992585, LOC129992586, LOC129992587, LOC129992588, LOC129992589, LOC129992590, LOC129992591, LOC129992592, LOC129992593, LOC129992594, LOC129992595, LOC129992596, LOC129992597, LOC129992598, LOC129992599, LOC129992600, LOC129992601, LOC129992602, LOC129992603, LOC129992604, LOC129992605, LOC129992606, LOC129992607, LOC129992608, LOC129992609, LOC129992610, LOC129992611, LOC129992612, LOC129992613, LOC129992614, LOC129992615, LOC129992616, LOC129992617, LOC129992618, LOC129992619, LOC129992620, LOC129992621, LOC129992622, LOC129992623, LOC129992624, LOC129992625, LOC129992626, LOC129992627, LOC129992628, LOC129992629, LOC129992630, LOC129992631, LOC129992632, LOC129992633, LOC129992634, LOC129992635, LOC129992636, LOC129992637, LOC129992638, LOC129992639, LOC129992640, LOC129992641, LOC129992642, LOC129992643, LOC129992644, LOC129992645, LOC129992646, LOC129992647, LOC129992648, LOC129992649, LOC129992650, LOC129992651, LOC129992652, LOC129992653, LOC129992654, LOC129992655, LOC129992656, LOC129992657, LOC129992658, LOC129992659, LOC129992660, LOC129992661, LOC129992662, LOC129992663, LOC129992664, LOC129992665, LOC129992666, LOC129992667, LOC129992668, LOC129992669, LOC129992670, LOC129992671, LOC129992672, LOC129992673, LOC129992674, LOC129992675, LOC129992676, LOC129992677, LOC129992678, LOC129992679, LOC129992680, LOC129992681, LOC129992682, LOC129992683, LOC129992684, LOC129992685, LOC129992686, LOC129992687, LOC129992688, LOC129992689, LOC129992690, LOC129992691, LOC129992692, LOC129992693, LOC129992694, LOC129992695, LOC129992696, LOC129992697, LOC129992698, LOC129992699, LOC129992700, LOC129992701, LOC129992702, LOC129992703, LOC129992704, LOC129992705, LOC129992706, LOC129992707, LOC129992708, LOC129992709, LOC129992710, LOC129992711, LOC129992712, LOC129992713, LOC129992714, LOC129992715, LOC129992716, LOC129992717, LOC129992718, LOC129992719, LOC129992720, LOC129992721, LOC129992722, LOC129992723, LOC129992724, LOC129992725, LOC129992726, LOC129992727, LOC129992728, LOC129992729, LOC129992730, LOC129992731, LOC129992732, LOC129992733, LOC129992734, LOC129992735, LOC129992736, LOC129992737, LOC129992738, LOC129992739, LOC129992740, LOC129992741, LOC129992742, LOC129992743, LOC129992744, LOC129992745, LOC129992746, LOC129992747, LOC129992748, LOC129992749, LOC129992750, LOC129992751, LOC129992752, LOC129992753, LOC129992754, LOC129992755, LOC129992756, LOC129992757, LOC129992758, LOC129992759, LOC129992760, LOC129992761, LOC129992762, LOC129992763, LOC129992764, LOC129992765, LOC129992766, LOC129992767, LOC129992768, LOC129992769, LOC129992770, LOC129992771, LOC129992772, LOC129992773, LOC129992774, LOC129992775, LOC129992776, LOC129992777, LOC129992778, LOC129992779, LOC129992780, LOC129992781, LOC129992782, LOC129992783, LOC129992784, LOC129992785, LOC129992786, LOC129992787, LOC129992788, LOC129992789, LOC129992790, LOC129992791, LOC129992792, LOC129992793, LOC129992794, LOC129992795, LOC129992796, LOC129992797, LOC129992798, LOC129992799, LOC129992800, LOC129992801, LOC129992802, LOC129992803, LOC129992804, LOC129992805, LOC129992806, LOC129992807, LOC129992808, LOC129992809, LOC129992810, LOC129992811, LOC129992812, LOC129992813, LOC129992814, LOC129992815, LOC129992816, LOC129992817, LOC129992818, LOC129992819, LOC129992820, LOC129992821, LOC129992822, LOC129992823, LOC129992824, LOC129992825, LOC129992826, LOC129992827, LOC129992828, LOC129992829, LOC129992830, LOC129992831, LOC129992832, LOC129992833, LOC129992834, LOC129992835, LOC129992836, LOC129992837, LOC129992838, LOC129992839, LOC129992840, LOC129992841, LOC129992842, LOC129992843, LOC129992844, LOC129992845, LOC129992846, LOC129992847, LOC550113, LRRC66, MAPK10, MAPK10-AS1, MEPE, MIR1269A, MIR4449, MIR4450, MIR4451, MIR4452, MIR548AG1, MIR548AH, MIR5705, MIR575, MMRN1, MOB1B, MRPL1, MRPS18C, MTHFD2L, MUC7, NAA11, NAAA, NAP1L5, NKX6-1, NMU, NOA1, NPFFR2, NUDT9, NUP54, ODAM, ODAPH, OPRPN, PAICS, PAQR3, PARM1, PARM1-AS1, PCAT4, PDCL2, PDGFRA, PDHA2, PDLIM5, PF4, PF4V1, PIGY, PIGY-DT, PKD2, PLAC8, POLR2B, PPAT, PPBP, PPEF2, PPM1K, PPM1K-DT, PRDM8, PRDM8-AS1, PRKG2, PRKG2-AS1, PRR27, PTPN13, PYURF, RASGEF1B, RASL11B, RASSF6, RCHY1, REST, RUFY3, SCARB2, SCD5, SCFD2, SCPPPQ1, SDAD1, SDAD1-AS1, SEC31A, SEPTIN11, SGCB, SHROOM3, SHROOM3-AS1, SLC10A6, SLC4A4, SMARCAD1, SMARCAD1-DT, SMR3A, SMR3B, SNCA, SNCA-AS1, SNORA26, SNORD143, SNORD144, SNORD161, SOWAHB, SPARCL1, SPATA18, SPINK2, SPMAP2L, SPP1, SRD5A3, SRD5A3-AS1, SRP72, STAP1, STATH, STBD1, STPG2, STPG2-AS1, SULT1B1, SULT1E1, TECRL, THAP6, THAP9, THAP9-AS1, TIGD2, TMEM150C, TMEM165, TMPRSS11A, TMPRSS11B, TMPRSS11D, TMPRSS11E, TMPRSS11F, UBA6, UBA6-DT, UGT2A1, UGT2A2, UGT2A3, UGT2B10, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UMLILO, UNC5C, UNC5C-AS1, USO1, USP46, USP46-DT, UTP3, WDFY3, WDFY3-AS1, WDFY3-AS2, YTHDC1, AASDH, ABCG2, ABRAXAS1, ADAMTS3, ADGRL3, ADGRL3-AS1, AFF1, AFF1-AS1, AFM, AFP, ALB, AMBN, AMTN, ANKRD17, ANKRD17-DT, ANTXR2, ANXA3, AREG, ARHGAP24, ARL9, ART3, ATOH1, BMP2K, BMP2K-DT, BMP3, BMPR1B, BMPR1B-DT, BTC, C4orf36, CABS1, CCDC158, CCNG2, CCNI, CCSER1, CDKL2, CDS1, CENPC, CEP135, CFAP299, CHIC2, CLOCK, CNOT6L, COPS4, COQ2, COX18, CRACD, CSN1S1, CSN2, CSN3, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, DANCR, DCK, DCUN1D4, DMP1, DSPP, ENAM, ENOPH1, EPGN, EPHA5, EPHA5-AS1, EREG, ERVMER34-1, EXOC1, EXOC1L, FAM13A, FAM13A-AS1, FAM47E, FAM47E-STBD1, FDCSP, FGF5, FIP1L1, FRAS1, G3BP2, GC, GK2, GNRHR, GPAT3, GPRIN3, GRID2, GRSF1, GSX2, HELQ, HERC3, HERC5, HERC6, HNRNPD, HNRNPD-DT, HNRNPDL, HOPX, HPGDS, HPSE, HSD17B11, HSD17B13, HTN1, HTN3, IBSP, IGFBP7, IGFBP7-AS1, INKILN, JCHAIN, KDR, KIT, KLHL8, LIN54, LINC00575, LINC00989, LINC01088, LINC01094, LINC01618, LINC02232, LINC02260, LINC02267, LINC02271, LINC02283, LINC02380, LINC02429, LINC02480, LINC02483, LINC02494, LINC02496, LINC02499, LINC02562, LINC02619, LINC02994, LNCPRESS2, LNX1, LNX1-AS1, LNX1-AS2, LOC100506444, LOC101927237, LOC101928893, LOC105377253, LOC105377267, LOC105377276, LOC105377672, LOC107988048, LOC110120742, LOC110120743, LOC110120745, LOC110120752, LOC110120783, LOC110121083, LOC110121104, LOC110121111, LOC110121177, LOC110121183, LOC110283621, LOC110351180, LOC111365205, LOC111589210, LOC111591506, LOC111828520, LOC111832670, LOC111832671, LOC112978669, LOC112978670, LOC112978671, LOC112997534, LOC112997535, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC112997542, LOC112997543, LOC112997544, LOC112997545, LOC112997546, LOC112997547, LOC114004386, LOC114803476, LOC114827842, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC116158494, LOC116158495, LOC116158496, LOC116158497, LOC116158498, LOC116158499, LOC116158500, LOC116158501, LOC116158502, LOC116158503, LOC121053179, LOC121053180, LOC121053181, LOC121053182, LOC121053183, LOC121053184, LOC121053185, LOC121053186, LOC121053187, LOC121053188, LOC121725171, LOC121725172, LOC121725173, LOC121725174, LOC121725175, LOC121725176, LOC121725177, LOC121725178, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC123477748, LOC123477749, LOC123477750, LOC123477751, LOC123477752, LOC123477753, LOC123477754, LOC123477755, LOC123477756, LOC123477757, LOC123477758, LOC123477759, LOC123477760, LOC123477761, LOC123477762, LOC123477763, LOC123477764, LOC123477765, LOC123477766, LOC123477767, LOC123477768, LOC123477769, LOC123477770, LOC123477771, LOC123477772, LOC123477773, LOC123477774, LOC123477775, LOC123477776, LOC123477777, LOC123477778, LOC123477779, LOC123477780, LOC123477781, LOC123477782, LOC123477783, LOC123477784, LOC123477785, LOC123477786, LOC123477787, LOC123477788, LOC123477789, LOC123477790, LOC126807053, LOC126807054, LOC126807055, LOC126807056, LOC126807057, LOC126807058, LOC126807059, LOC126807060, LOC126807061, LOC126807062, LOC126807063, LOC126807064, LOC126807065, LOC126807066, LOC126807067, LOC126807068, LOC126807069, LOC126807070, LOC126807071, LOC126807072, LOC126807073, LOC126807074, LOC126807075, LOC126807076, LOC126807077, LOC126807078, LOC126807079, LOC126807080, LOC126807081, LOC126807082, LOC126807083, LOC126807084, LOC126807085, LOC126807086, LOC126807087, LOC126807088, LOC126807089, LOC126807090, LOC126807091, LOC126807092, LOC126807093, LOC126807094, LOC126807095, LOC126807096, LOC126807097, LOC126807098, LOC126807099, LOC126807100, LOC126807101, LOC126807102, LOC126807103, LOC126807104, LOC126807105, LOC126807106, LOC126807107, LOC126807108, LOC126807109, LOC126807110, LOC126807111, LOC126807112, LOC126807113, LOC126807114, LOC126807115, LOC126807116, LOC126807117, LOC129389211, LOC129389212, LOC129389213, LOC129389214, LOC129389215
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
2.
GRCh37:
Chr4:69551806-96215607
GRCh38:
Chr4:68686088-95294456
LOC129992716, LOC129992717, LOC129992718, LOC129992719, LOC129992720, LOC129992721, LOC129992722, LOC129992723, LOC129992724, LOC129992725, LOC129992726, LOC129992727, LOC129992728, LOC129992729, LOC129992730, LOC129992731, LOC129992732, LOC129992733, LOC129992734, LOC129992735, LOC129992736, LOC129992737, LOC129992738, LOC129992739, LOC129992740, LOC129992741, LOC129992742, LOC129992743, LOC129992744, LOC129992745, LOC129992746, LOC129992747, LOC129992748, LOC129992749, LOC129992750, LOC129992751, LOC129992752, LOC129992753, LOC129992754, LOC129992755, LOC129992756, LOC129992757, LOC129992758, LOC129992759, LOC129992760, LOC129992761, LOC129992762, LOC129992763, LOC129992764, LOC129992765, LOC129992766, LOC129992767, LOC129992768, LOC129992769, LOC129992770, LOC129992771, LOC129992772, LOC129992773, LOC129992774, LOC129992775, LOC129992776, LOC129992777, LOC129992778, LOC129992779, LOC129992780, LOC129992781, LOC129992782, LOC129992783, LOC129992784, LOC129992785, LOC129992786, LOC129992787, LOC129992788, LOC129992789, LOC129992790, LOC129992791, LOC129992792, LOC129992793, LOC129992794, LOC129992795, LOC129992796, LOC129992797, LOC129992798, LOC129992799, LOC129992800, LOC129992801, LOC129992802, LOC129992803, LOC129992804, LOC129992805, LOC129992806, LOC129992807, LOC129992808, LOC129992809, LOC129992810, LOC129992811, LOC129992812, LOC129992813, LOC129992814, LOC129992815, LOC129992816, LOC129992817, LOC129992818, LOC129992819, LOC129992820, LOC129992821, LOC129992822, LOC129992823, LOC129992824, LOC129992825, LOC129992826, LOC129992827, LOC129992828, LOC129992829, LOC129992830, LOC129992831, LOC129992832, LOC129992833, LOC129992834, LOC129992835, LOC129992836, LOC129992837, LOC129992838, LOC129992839, LOC129992840, LOC129992841, LOC129992842, LOC129992843, LOC129992844, LOC129992845, MAPK10, MAPK10-AS1, MEPE, MIR4450, MIR4451, MIR4452, MIR548AH, MIR5705, MIR575, MMRN1, MOB1B, MRPL1, MRPS18C, MTHFD2L, MUC7, NAA11, NAAA, NAP1L5, NKX6-1, NPFFR2, NUDT9, NUP54, ODAM, ODAPH, OPRPN, PAQR3, PARM1, PARM1-AS1, PCAT4, PDLIM5, PF4, PF4V1, PIGY, PIGY-DT, PKD2, PLAC8, PPBP, PPEF2, PPM1K, PPM1K-DT, PRDM8, PRDM8-AS1, PRKG2, PRKG2-AS1, PRR27, PTPN13, PYURF, RASGEF1B, RASSF6, RCHY1, RUFY3, SCARB2, SCD5, SCPPPQ1, SDAD1, SDAD1-AS1, SEC31A, SEPTIN11, SHROOM3, SHROOM3-AS1, SLC10A6, SLC4A4, SMARCAD1, SMARCAD1-DT, SMR3A, SMR3B, SNCA, SNCA-AS1, SNORD143, SNORD144, SNORD161, SOWAHB, SPARCL1, SPP1, STATH, STBD1, SULT1B1, SULT1E1, THAP6, THAP9, THAP9-AS1, TIGD2, TMEM150C, UGT2A1, UGT2A2, UGT2A3, UGT2B10, UGT2B11, UGT2B28, UGT2B4, UGT2B7, UMLILO, UNC5C, USO1, UTP3, WDFY3, WDFY3-AS1, WDFY3-AS2, ABCG2, ABRAXAS1, ADAMTS3, AFF1, AFF1-AS1, AFM, AFP, ALB, AMBN, AMTN, ANKRD17, ANKRD17-DT, ANTXR2, ANXA3, AREG, ARHGAP24, ART3, ATOH1, BMP2K, BMP2K-DT, BMP3, BMPR1B, BMPR1B-DT, BTC, C4orf36, CABS1, CCDC158, CCNG2, CCNI, CCSER1, CDKL2, CDS1, CFAP299, CNOT6L, COPS4, COQ2, COX18, CSN1S1, CSN2, CSN3, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, DCK, DMP1, DSPP, ENAM, ENOPH1, EPGN, EREG, FAM13A, FAM13A-AS1, FAM47E, FAM47E-STBD1, FDCSP, FGF5, FRAS1, G3BP2, GC, GK2, GPAT3, GPRIN3, GRID2, GRSF1, HELQ, HERC3, HERC5, HERC6, HNRNPD, HNRNPD-DT, HNRNPDL, HPGDS, HPSE, HSD17B11, HSD17B13, HTN1, HTN3, IBSP, INKILN, JCHAIN, KLHL8, LIN54, LINC00575, LINC00989, LINC01088, LINC01094, LINC02483, LINC02499, LINC02562, LINC02994, LNCPRESS2, LOC101928893, LOC105377267, LOC105377276, LOC107988048, LOC110120743, LOC110120752, LOC110121083, LOC110121104, LOC110283621, LOC110351180, LOC111365205, LOC111589210, LOC111591506, LOC111828520, LOC111832670, LOC111832671, LOC112978669, LOC112978670, LOC112978671, LOC112997534, LOC112997535, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC112997542, LOC112997543, LOC112997544, LOC112997545, LOC112997546, LOC112997547, LOC114803476, LOC114827842, LOC116158494, LOC116158495, LOC116158496, LOC116158497, LOC116158498, LOC116158499, LOC116158500, LOC116158501, LOC116158502, LOC116158503, LOC121053184, LOC121053185, LOC121053186, LOC121053187, LOC121053188, LOC121725172, LOC121725173, LOC121725174, LOC121725175, LOC121725176, LOC121725177, LOC121725178, LOC123477754, LOC123477755, LOC123477756, LOC123477757, LOC123477758, LOC123477759, LOC123477760, LOC123477761, LOC123477762, LOC123477763, LOC123477764, LOC123477765, LOC123477766, LOC123477767, LOC123477768, LOC123477769, LOC123477770, LOC123477771, LOC123477772, LOC123477773, LOC123477774, LOC123477775, LOC123477776, LOC123477777, LOC123477778, LOC123477779, LOC123477780, LOC123477781, LOC123477782, LOC123477783, LOC123477784, LOC123477785, LOC123477786, LOC123477787, LOC123477788, LOC123477789, LOC123477790, LOC126807070, LOC126807071, LOC126807072, LOC126807073, LOC126807074, LOC126807075, LOC126807076, LOC126807077, LOC126807078, LOC126807079, LOC126807080, LOC126807081, LOC126807082, LOC126807083, LOC126807084, LOC126807085, LOC126807086, LOC126807087, LOC126807088, LOC126807089, LOC126807090, LOC126807091, LOC126807092, LOC126807093, LOC126807094, LOC126807095, LOC126807096, LOC126807097, LOC126807098, LOC126807099, LOC126807100, LOC126807101, LOC126807102, LOC126807103, LOC126807104, LOC126807105, LOC126807106, LOC126807107, LOC126807108, LOC126807109, LOC126807110, LOC126807111, LOC126807112, LOC126807113, LOC129389214, LOC129389215, LOC129389216, LOC129389217, LOC129389218, LOC129389219, LOC129389220, LOC129389221, LOC129389222, LOC129389223, LOC129389224, LOC129389225, LOC129992656, LOC129992657, LOC129992658, LOC129992659, LOC129992660, LOC129992661, LOC129992662, LOC129992663, LOC129992664, LOC129992665, LOC129992666, LOC129992667, LOC129992668, LOC129992669, LOC129992670, LOC129992671, LOC129992672, LOC129992673, LOC129992674, LOC129992675, LOC129992676, LOC129992677, LOC129992678, LOC129992679, LOC129992680, LOC129992681, LOC129992682, LOC129992683, LOC129992684, LOC129992685, LOC129992686, LOC129992687, LOC129992688, LOC129992689, LOC129992690, LOC129992691, LOC129992692, LOC129992693, LOC129992694, LOC129992695, LOC129992696, LOC129992697, LOC129992698, LOC129992699, LOC129992700, LOC129992701, LOC129992702, LOC129992703, LOC129992704, LOC129992705, LOC129992706, LOC129992707, LOC129992708, LOC129992709, LOC129992710, LOC129992711, LOC129992712, LOC129992713, LOC129992714, LOC129992715
See casesPathogenic
(Jun 11, 2013)		no assertion criteria provided
3.
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
4.
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
5.
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
6.
GRCh37:
Chr4:93531564-102443148
GRCh38:
Chr4:92610413-101521991
LOC129992850, LOC129992851, LOC129992852, LOC129992853, LOC129992854, LOC129992855, LOC129992856, LOC129992857, LOC129992858, LOC129992859, LOC129992860, LOC129992861, LOC129992862, LOC129992863, LOC129992864, LOC129992865, LOC129992866, LOC129992867, LOC129992868, LOC129992869, LOC129992870, LOC129992871, LOC129992872, LOC132088988, LOC132090708, METAP1, MIR1255A, MIR3684, MIR8066, MTTP, PDHA2, PDLIM5, PPP3CA, RAP1GDS1, SMARCAD1, SMARCAD1-DT, SNORA101A, STPG2, STPG2-AS1, TRMT10A, TSPAN5, TSPAN5-DT, UNC5C, UNC5C-AS1, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, ATOH1, BMPR1B, BMPR1B-DT, C4orf17, C4orf54, DAPP1, DDIT4L, DDIT4L-AS1, DNAJB14, EIF4E, EMCN, FLJ20021, GRID2, H2AZ1, H2AZ1-DT, HPGDS, LAMTOR3, LINC01216, LINC01217, LINC01218, LINC02267, LOC100507053, LOC110121104, LOC111188164, LOC111216272, LOC111216273, LOC111216288, LOC111216289, LOC111216290, LOC111216291, LOC111216292, LOC111240471, LOC112935970, LOC112997547, LOC116158504, LOC116158505, LOC121053189, LOC121725179, LOC121725180, LOC123477788, LOC123477789, LOC123477790, LOC123477791, LOC123477792, LOC123477793, LOC123477794, LOC126807112, LOC126807113, LOC126807114, LOC126807115, LOC126807116, LOC126807117, LOC126807118, LOC126807119, LOC126807120, LOC126807121, LOC126807122, LOC126807123, LOC126807124, LOC129389226, LOC129389227, LOC129389228, LOC129389229, LOC129992839, LOC129992840, LOC129992841, LOC129992842, LOC129992843, LOC129992844, LOC129992845, LOC129992846, LOC129992847, LOC129992848, LOC129992849
See casesPathogenic
(Apr 30, 2011)		no assertion criteria provided
7.
GRCh37:
Chr4:95501261-96109807
GRCh38:
Chr4:94580110-95188656
BMPR1B, BMPR1B-DT, LOC110121104, PDLIM5, UNC5CSee casesLikely benign
(Apr 4, 2013)		no assertion criteria provided
8.
GRCh37:
Chr4:95537649-96368018
GRCh38:
Chr4:94616498-95446867
BMPR1B, BMPR1B-DT, LOC110121104, LOC123477790, LOC126807113, PDLIM5, UNC5CSee casesUncertain significance
(Apr 16, 2012)		no assertion criteria provided
9.
GRCh37:
Chr4:95679115
GRCh38:
Chr4:94757964
BMPR1BBrachydactylyUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
10.
GRCh37:
Chr4:95679204
GRCh38:
Chr4:94758053
BMPR1BBrachydactylyUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
11.
GRCh37:
Chr4:95796982
GRCh38:
Chr4:94875831
BMPR1BBrachydactylyUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
12.
GRCh37:
Chr4:95796997
GRCh38:
Chr4:94875846
BMPR1BBrachydactylyUncertain significance
(Mar 2, 2018)		criteria provided, single submitter
13.
GRCh37:
Chr4:95797035
GRCh38:
Chr4:94875884
BMPR1BBrachydactylyBenign
(Jan 12, 2018)		criteria provided, single submitter
14.
GRCh37:
Chr4:95797047
GRCh38:
Chr4:94875896
BMPR1BBrachydactylyBenign
(Jan 12, 2018)		criteria provided, single submitter
15.
GRCh37:
Chr4:95823124-96128327
GRCh38:
Chr4:94901973-95207176
BMPR1B, UNC5CSee casesUncertain significance
(Aug 19, 2010)		no assertion criteria provided
16.
GRCh37:
Chr4:95917215
GRCh38:
Chr4:94996064
BMPR1BBrachydactylyUncertain significance
(Feb 9, 2018)		criteria provided, single submitter
17.
GRCh37:
Chr4:95917286
GRCh38:
Chr4:94996135
BMPR1BBrachydactylyLikely benign
(Oct 2, 2017)		criteria provided, single submitter
18.
GRCh37:
Chr4:95972540
GRCh38:
Chr4:95051389
BMPR1Bnot providedLikely benign
(Feb 13, 2020)		criteria provided, single submitter
19.
GRCh37:
Chr4:95972736
GRCh38:
Chr4:95051585
BMPR1BAcromesomelic dysplasia 3Uncertain significancecriteria provided, single submitter
20.
GRCh37:
Chr4:95973096-95973099
GRCh38:
Chr4:95051945-95051948
BMPR1Bnot providedBenign
(Jun 25, 2021)		criteria provided, single submitter
21.
GRCh37:
Chr4:95973096
GRCh38:
Chr4:95051945
BMPR1Bnot providedLikely benign
(Jul 18, 2020)		criteria provided, single submitter
22.
GRCh37:
Chr4:95973206
GRCh38:
Chr4:95052055
BMPR1Bnot providedBenign
(Nov 10, 2018)		criteria provided, single submitter
23.
GRCh37:
Chr4:96025302
GRCh38:
Chr4:95104151
BMPR1Bnot providedBenign
(Sep 4, 2018)		criteria provided, single submitter
24.
GRCh37:
Chr4:96025422
GRCh38:
Chr4:95104271
BMPR1Bnot providedLikely benign
(Mar 14, 2020)		criteria provided, single submitter
25.
GRCh37:
Chr4:96025586
GRCh38:
Chr4:95104435
BMPR1BR34Q, R4Qnot provided, Acromesomelic dysplasia 3, Idiopathic pulmonary arterial hypertension,
Brachydactyly, Brachydactyly type A2, Acromesomelic dysplasia 3
Conflicting interpretations of pathogenicity
(Oct 4, 2022)		criteria provided, conflicting interpretations
26.
GRCh37:
Chr4:96025590
GRCh38:
Chr4:95104439
BMPR1BS35R, S5RBrachydactyly type A2, Acromesomelic dysplasia 3Likely benign
(Jul 12, 2022)		criteria provided, single submitter
27.
GRCh37:
Chr4:96025591
GRCh38:
Chr4:95104440
BMPR1BA36T, A6TBrachydactyly type A2, Acromesomelic dysplasia 3, Inborn genetic diseases
Conflicting interpretations of pathogenicity
(Jul 5, 2022)		criteria provided, conflicting interpretations
28.
GRCh37:
Chr4:96025593
GRCh38:
Chr4:95104442
BMPR1BAcromesomelic dysplasia 3, Brachydactyly type A2Likely benign
(Sep 28, 2022)		criteria provided, single submitter
29.
GRCh37:
Chr4:96025596
GRCh38:
Chr4:95104445
BMPR1BBrachydactyly type A2, Acromesomelic dysplasia 3Likely benign
(Jul 12, 2022)		criteria provided, single submitter
30.
GRCh37:
Chr4:96025611
GRCh38:
Chr4:95104460
BMPR1BBrachydactylyUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
31.
GRCh37:
Chr4:96025613
GRCh38:
Chr4:95104462
BMPR1BT43I, T13IInborn genetic diseasesUncertain significance
(Dec 21, 2022)		criteria provided, single submitter
32.
GRCh37:
Chr4:96025618
GRCh38:
Chr4:95104467
BMPR1BK15E, K45EInborn genetic diseases, Brachydactyly type A2, Acromesomelic dysplasia 3
Conflicting interpretations of pathogenicity
(Sep 22, 2022)		criteria provided, conflicting interpretations
33.
GRCh37:
Chr4:96025637
GRCh38:
Chr4:95104486
BMPR1BT51I, T21IAcromesomelic dysplasia 3, Brachydactyly type A2Likely benign
(Mar 4, 2022)		criteria provided, single submitter
34.
GRCh37:
Chr4:96025645
GRCh38:
Chr4:95104494
BMPR1BT24A, T54Anot providedUncertain significance
(Jan 3, 2020)		criteria provided, single submitter
35.
GRCh37:
Chr4:96025646
GRCh38:
Chr4:95104495
BMPR1BT24I, T54IBrachydactyly type A1D, Brachydactyly type A2Uncertain significance
(Jun 26, 2019)		criteria provided, single submitter
36.
GRCh37:
Chr4:96025647
GRCh38:
Chr4:95104496
BMPR1BBrachydactyly type A2, Acromesomelic dysplasia 3Likely benign
(Aug 18, 2022)		criteria provided, single submitter
37.
GRCh37:
Chr4:96025649
GRCh38:
Chr4:95104498
BMPR1BP25R, P55RBrachydactyly type A2, Acromesomelic dysplasia 3Benign
(Sep 7, 2022)		criteria provided, single submitter
38.
GRCh37:
Chr4:96025652
GRCh38:
Chr4:95104501
BMPR1BR26H, R56HAcromesomelic dysplasia 3, Brachydactyly type A2Likely benign
(May 16, 2022)		criteria provided, single submitter
39.
GRCh37:
Chr4:96025652
GRCh38:
Chr4:95104501
BMPR1BR26P, R56Pnot providedUncertain significance
(Oct 31, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr4:96025655
GRCh38:
Chr4:95104504
BMPR1BP27R, P57RAcromesomelic dysplasia 3, Brachydactyly type A2, Pulmonary hypertension, primary, 3
Uncertain significance
(Jan 12, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr4:96025660
GRCh38:
Chr4:95104509
BMPR1BV29F, V59FAcromesomelic dysplasia 3, Brachydactyly type A2Uncertain significance
(Dec 13, 2021)		criteria provided, single submitter
42.
GRCh37:
Chr4:96025663
GRCh38:
Chr4:95104512
BMPR1BL30V, L60VInborn genetic diseasesUncertain significance
(Mar 2, 2023)		criteria provided, single submitter
43.
GRCh37:
Chr4:96025666
GRCh38:
Chr4:95104515
BMPR1BR31C, R61CAcromesomelic dysplasia 3Pathogenic
(Jun 24, 2015)		no assertion criteria provided
44.
GRCh37:
Chr4:96025667
GRCh38:
Chr4:95104516
BMPR1BR31H, R61HBrachydactyly, Brachydactyly type A2, Acromesomelic dysplasia 3
Conflicting interpretations of pathogenicity
(Dec 22, 2021)		criteria provided, conflicting interpretations
45.
GRCh37:
Chr4:96025678
GRCh38:
Chr4:95104527
BMPR1BH35Y, H65Ynot providedUncertain significance
(Jun 16, 2021)		criteria provided, single submitter
46.
GRCh37:
Chr4:96025727
GRCh38:
Chr4:95104576
BMPR1Bnot providedLikely benign
(Dec 20, 2017)		criteria provided, single submitter
47.
GRCh37:
Chr4:96035796-96035797
GRCh38:
Chr4:95114645-95114646
BMPR1Bnot providedBenign
(Sep 21, 2020)		criteria provided, single submitter
48.
GRCh37:
Chr4:96035796-96035797
GRCh38:
Chr4:95114645-95114646
BMPR1Bnot providedLikely benign
(Sep 21, 2020)		criteria provided, single submitter
49.
GRCh37:
Chr4:96035797-96035802
GRCh38:
Chr4:95114646-95114651
BMPR1Bnot providedBenign
(Mar 14, 2020)		criteria provided, single submitter
50.
GRCh37:
Chr4:96035854
GRCh38:
Chr4:95114703
BMPR1BBrachydactyly type A2, Acromesomelic dysplasia 3Likely benign
(Jul 30, 2022)		criteria provided, single submitter
51.
GRCh37:
Chr4:96035874
GRCh38:
Chr4:95114723
BMPR1BAcromesomelic dysplasia 3, Brachydactyly type A2Likely benign
(Jun 21, 2018)		criteria provided, single submitter
52.
GRCh37:
Chr4:96035877
GRCh38:
Chr4:95114726
BMPR1BBrachydactyly type A2, Acromesomelic dysplasia 3, Brachydactyly
Likely benign
(Aug 3, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr4:96035884
GRCh38:
Chr4:95114733
BMPR1BC53R, C83RAcromesomelic dysplasia 3Pathogenic
(Jun 1, 2014)		no assertion criteria provided
54.
GRCh37:
Chr4:96035909
GRCh38:
Chr4:95114758
BMPR1BD61A, D91Anot providedUncertain significance
(Jan 26, 2017)		criteria provided, single submitter
55.
GRCh37:
Chr4:96035910
GRCh38:
Chr4:95114759
BMPR1Bnot providedLikely benign
(Aug 7, 2018)		criteria provided, single submitter
56.
GRCh37:
Chr4:96035941
GRCh38:
Chr4:95114790
BMPR1BAcromesomelic dysplasia 3, Brachydactyly type A2Likely benign
(Dec 31, 2019)		criteria provided, single submitter
57.
GRCh37:
Chr4:96035956
GRCh38:
Chr4:95114805
BMPR1BS107A, S77AAcromesomelic dysplasia 3, Brachydactyly type A2Likely benign
(Jun 19, 2022)		criteria provided, single submitter
58.
GRCh37:
Chr4:96035960
GRCh38:
Chr4:95114809
BMPR1BD78G, D108GBrachydactylyUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
59.
GRCh37:
Chr4:96035971
GRCh38:
Chr4:95114820
BMPR1BR112W, R82WAcromesomelic dysplasia 3Uncertain significance
(Aug 1, 2021)		criteria provided, single submitter
60.
GRCh37:
Chr4:96036076
GRCh38:
Chr4:95114925
BMPR1Bnot providedBenign
(Sep 8, 2019)		criteria provided, single submitter
61.
GRCh37:
Chr4:96036500
GRCh38:
Chr4:95115349
BMPR1Bnot providedBenign
(Feb 28, 2019)		criteria provided, single submitter
62.
GRCh37:
Chr4:96036691
GRCh38:
Chr4:95115540
BMPR1Bnot providedLikely benign
(Nov 8, 2018)		criteria provided, single submitter
63.
GRCh37:
Chr4:96036693
GRCh38:
Chr4:95115542
BMPR1Bnot providedLikely benign
(Nov 16, 2018)		criteria provided, single submitter
64.
GRCh37:
Chr4:96036827
GRCh38:
Chr4:95115676
BMPR1BBrachydactyly, Acromesomelic dysplasia 3, Brachydactyly type A2
Benign/Likely benign
(Oct 8, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr4:96036832
GRCh38:
Chr4:95115681
BMPR1Bnot specified, Acromesomelic dysplasia 3, Brachydactyly type A2,
not provided		Benign
(Sep 7, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr4:96036833
GRCh38:
Chr4:95115682
BMPR1BAcromesomelic dysplasia 3, Brachydactyly type A2Uncertain significance
(Jan 21, 2022)		criteria provided, single submitter
67.
GRCh37:
Chr4:96036836
GRCh38:
Chr4:95115685
BMPR1BD113N, D83NAcromesomelic dysplasia 3, Brachydactyly type A2Uncertain significance
(Apr 20, 2022)		criteria provided, single submitter
68.
GRCh37:
Chr4:96036840
GRCh38:
Chr4:95115689
BMPR1BT114I, T84IInborn genetic diseases, Acromesomelic dysplasia 3, Brachydactyly type A2
Conflicting interpretations of pathogenicity
(Sep 1, 2022)		criteria provided, conflicting interpretations
69.
GRCh37:
Chr4:96036861
GRCh38:
Chr4:95115710
BMPR1BR121I, R91IBMPR1B-related conditionUncertain significance
(Feb 7, 2023)		criteria provided, single submitter
70.
GRCh37:
Chr4:96036869
GRCh38:
Chr4:95115718
BMPR1BE124K, E94KAcromesomelic dysplasia 3, Brachydactyly type A2Likely benign
(May 31, 2022)		criteria provided, single submitter
71.
GRCh37:
Chr4:96036878
GRCh38:
Chr4:95115727
BMPR1BT97A, T127AAcromesomelic dysplasia 3, Brachydactyly type A2, not provided
Conflicting interpretations of pathogenicity
(Oct 17, 2022)		criteria provided, conflicting interpretations
72.
GRCh37:
Chr4:96036889
GRCh38:
Chr4:95115738
BMPR1BBrachydactyly, Brachydactyly type A2, Acromesomelic dysplasia 3
Benign/Likely benign
(May 25, 2022)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr4:96036923
GRCh38:
Chr4:95115772
BMPR1BP112S, P142SBrachydactyly type A2, Acromesomelic dysplasia 3Likely benign
(Aug 15, 2022)		criteria provided, single submitter
74.
GRCh37:
Chr4:96036956
GRCh38:
Chr4:95115805
BMPR1BBrachydactyly type A2, Acromesomelic dysplasia 3Likely benign
(Apr 3, 2021)		criteria provided, single submitter
75.
GRCh37:
Chr4:96044812
GRCh38:
Chr4:95123661
BMPR1Bnot providedBenign
(Nov 10, 2018)		criteria provided, single submitter
76.
GRCh37:
Chr4:96044969
GRCh38:
Chr4:95123818
BMPR1BD120N, D150NBrachydactyly type A2, Acromesomelic dysplasia 3Likely benign
(Jul 12, 2022)		criteria provided, single submitter
77.
GRCh37:
Chr4:96044970-96044977
GRCh38:
Chr4:95123819-95123826
BMPR1BG151fs, G121fsAcromesomelic dysplasia 3Pathogenic
(Apr 1, 2005)		no assertion criteria provided
78.
GRCh37:
Chr4:96044971
GRCh38:
Chr4:95123820
BMPR1BD120E, D150EInborn genetic diseasesUncertain significance
(Aug 15, 2023)		criteria provided, single submitter
79.
GRCh37:
Chr4:96044981
GRCh38:
Chr4:95123830
BMPR1BH154Y, H124YAcromesomelic dysplasia 3, Brachydactyly type A2Uncertain significance
(Aug 31, 2021)		criteria provided, single submitter
80.
GRCh37:
Chr4:96045002
GRCh38:
Chr4:95123851
BMPR1BS131T, S161TInborn genetic diseases, Brachydactyly type A2, Acromesomelic dysplasia 3
Uncertain significance
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr4:96045006
GRCh38:
Chr4:95123855
BMPR1BV162G, V132GBrachydactylyLikely benign
(Jan 13, 2018)		criteria provided, single submitter
82.
GRCh37:
Chr4:96045022
GRCh38:
Chr4:95123871
BMPR1BAcromesomelic dysplasia 3, Brachydactyly type A2Likely benign
(Dec 20, 2021)		criteria provided, single submitter
83.
GRCh37:
Chr4:96045029
GRCh38:
Chr4:95123878
BMPR1BV140I, V170IBrachydactyly, Acromesomelic dysplasia 3, Brachydactyly type A2,
not specified, not provided		Benign/Likely benign
(Apr 1, 2023)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr4:96045030
GRCh38:
Chr4:95123879
BMPR1BV140G, V170GAcromesomelic dysplasia 3, Brachydactyly type A2Uncertain significance
(Oct 25, 2022)		criteria provided, single submitter
85.
GRCh37:
Chr4:96045039
GRCh38:
Chr4:95123888
BMPR1BI173T, I143TInborn genetic diseasesUncertain significance
(Jun 2, 2023)		criteria provided, single submitter
86.
GRCh37:
Chr4:96045041
GRCh38:
Chr4:95123890
BMPR1BBrachydactyly type A2, Acromesomelic dysplasia 3Likely benign
(Jul 25, 2022)		criteria provided, single submitter
87.
GRCh37:
Chr4:96045051
GRCh38:
Chr4:95123900
BMPR1BY177C, Y147CAcromesomelic dysplasia 3, Brachydactyly type A2Uncertain significance
(Aug 30, 2022)		criteria provided, single submitter
88.
GRCh37:
Chr4:96045056
GRCh38:
Chr4:95123905
BMPR1BR149W, R179WBrachydactyly, not provided, Acromesomelic dysplasia 3,
Brachydactyly type A2		Benign
(Mar 1, 2023)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr4:96045834
GRCh38:
Chr4:95124683
BMPR1Bnot providedBenign
(Feb 28, 2019)		criteria provided, single submitter
90.
GRCh37:
Chr4:96046133
GRCh38:
Chr4:95124982
BMPR1BBrachydactyly type A1DPathogenic
(Mar 4, 2016)		no assertion criteria provided
91.
GRCh37:
Chr4:96046151
GRCh38:
Chr4:95125000
BMPR1BT155N, T185NAcromesomelic dysplasia 3, Brachydactyly type A2Likely benign
(Jun 24, 2022)		criteria provided, single submitter
92.
GRCh37:
Chr4:96046155
GRCh38:
Chr4:95125004
BMPR1Bnot provided, Brachydactyly type A2, Acromesomelic dysplasia 3
Conflicting interpretations of pathogenicity
(Jul 6, 2022)		criteria provided, conflicting interpretations
93.
GRCh37:
Chr4:96046156
GRCh38:
Chr4:95125005
BMPR1BP157S, P187Snot providedUncertain significance
(Feb 20, 2016)		criteria provided, single submitter
94.
GRCh37:
Chr4:96046157
GRCh38:
Chr4:95125006
BMPR1BP157L, P187LBrachydactyly type A2, Acromesomelic dysplasia 3Uncertain significance
(Jul 25, 2022)		criteria provided, single submitter
95.
GRCh37:
Chr4:96046157
GRCh38:
Chr4:95125006
BMPR1BP157R, P187RBrachydactyly type A2, Acromesomelic dysplasia 3Uncertain significance
(Sep 17, 2021)		criteria provided, single submitter
96.
GRCh37:
Chr4:96046161
GRCh38:
Chr4:95125010
BMPR1BAcromesomelic dysplasia 3, Brachydactyly type A2Likely benign
(Sep 24, 2022)		criteria provided, single submitter
97.
GRCh37:
Chr4:96046163
GRCh38:
Chr4:95125012
BMPR1BY159C, Y189CAcromesomelic dysplasia 3, Brachydactyly type A2Uncertain significance
(Mar 18, 2022)		criteria provided, single submitter
98.
GRCh37:
Chr4:96046169
GRCh38:
Chr4:95125018
BMPR1BI161S, I191SBrachydactylyUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
99.
GRCh37:
Chr4:96046174
GRCh38:
Chr4:95125023
BMPR1BL163I, L193IAcromesomelic dysplasia 3, Brachydactyly type A2Uncertain significance
(Aug 23, 2022)		criteria provided, single submitter
100.
GRCh37:
Chr4:96046177
GRCh38:
Chr4:95125026
BMPR1BE164K, E194KBrachydactylyUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
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