| - GRCh37:
- Chr5:149094155-180699152
- GRCh38:
- Chr5:149714592-181272151
| ADAM19, ADAMTS2, ADRA1B, ANXA6, ARL10, ARSI, ATOX1, ATOX1-AS1, ATP10B, ATP6V0E1, B4GALT7, BNIP1, BOD1, BTNL3, BTNL8, BTNL9, C1QTNF2, C5orf47, C5orf52, C5orf58, C5orf60, CAMK2A, CANX, CBY3, CCDC69, CCNG1, CCNJL, CD74, CDHR2, CDX1, CLINT1, CLK4, CLMAT3, CLTB, CNOT6, CNOT8, COL23A1, CPEB4, CPLX2, CREBRF, CSF1R, CTC-338M12.4, CYFIP2, DBN1, DCTN4, DDX41, DOCK2, DOK3, DRD1, DUSP1, EBF1, EFCAB9, EIF4E1B, ERGIC1, F12, FABP6, FABP6-AS1, FAF2, FAM114A2, FAM153A, FAM153B, FAM193B, FAM200C, FAT2, FAXDC2, FBLL1, FBXW11, FGF18, FGFR4, FLT4, FNDC9, FOXI1, G3BP1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GALNT10, GARIN3, GEMIN5, GFPT2, GLRA1, GM2A, GMCL2, GPRIN1, GPX3, GRIA1, GRK6, GRM6, HAND1, HAVCR1, HAVCR2, HEIH, HIGD2A, HK3, HMGXB3, HMMR, HMMR-AS1, HNRNPAB, HNRNPH1, HRH2, IL12B, INSYN2B, IRGM, ITK, KCNIP1, KCNIP1-AS1, KCNIP1-OT1, KCNMB1, KIAA1191, KIF4B, LARP1, LCP2, LINC00847, LINC01187, LINC01202, LINC01366, LINC01411, LINC01470, LINC01484, LINC01485, LINC01574, LINC01845, LINC01847, LINC01861, LINC01932, LINC01933, LINC01938, LINC01942, LINC01944, LINC01947, LINC01951, LINC01962, LINC02143, LINC02159, LINC02202, LINC02222, LINC02227, LINC02995, LINC03000, LMAN2, LOC100128059, LOC100128340, LOC100130798, LOC100288254, LOC100289470, LOC100502572, LOC100507387, LOC100652758, LOC100996385, LOC101927908, LOC101928093, LOC102546299, LOC105377763, LOC105378230, LOC105980006, LOC105980008, LOC108004526, LOC108228201, LOC109279841, LOC110120620, LOC110120643, LOC110120714, LOC110120747, LOC110120777, LOC110120965, LOC110120995, LOC110120998, LOC110121000, LOC110121027, LOC110121041, LOC110121211, LOC110121241, LOC110121272, LOC110121284, LOC111188152, LOC111188153, LOC111188154, LOC111188156, LOC111429606, LOC111500319, LOC111556140, LOC111828524, LOC112997568, LOC112997569, LOC112997570, LOC112997571, LOC112997572, LOC112997574, LOC112997575, LOC112997576, LOC112997577, LOC112997578, LOC112997579, LOC112997580, LOC112997581, LOC112997582, LOC112997583, LOC112997584, LOC114004391, LOC116158526, LOC116158527, LOC116158528, LOC116158530, LOC116158531, LOC116158532, LOC116158533, LOC116158534, LOC116158535, LOC116158536, LOC121099710, LOC121099711, LOC121099712, LOC121099713, LOC121099714, LOC121099715, LOC121099716, LOC121099717, LOC121099718, LOC121740630, LOC121740631, LOC121740632, LOC121740633, LOC121740634, LOC121740635, LOC123575590, LOC123575592, LOC123575593, LOC123575594, LOC123575595, LOC123575596, LOC123575597, LOC123575598, LOC123575599, LOC123575600, LOC123575601, LOC123575602, LOC123575603, LOC123575604, LOC123575605, LOC123575606, LOC123575607, LOC123575608, LOC123575609, LOC123575610, LOC123575611, LOC123575612, LOC123575614, LOC123575615, LOC123575616, LOC123575617, LOC123575618, LOC123575619, LOC123575620, LOC123575621, LOC123575622, LOC123575623, LOC123575624, LOC123575625, LOC123575626, LOC123575627, LOC123575628, LOC123575629, LOC123575630, LOC123575631, LOC123575632, LOC123575633, LOC123575634, LOC123575635, LOC123575636, LOC123575637, LOC123575638, LOC123575639, LOC123575640, LOC123575641, LOC126807551, LOC126807552, LOC126807553, LOC126807554, LOC126807555, LOC126807556, LOC126807557, LOC126807558, LOC126807559, LOC126807560, LOC126807561, LOC126807562, LOC126807563, LOC126807564, LOC126807565, LOC126807566, LOC126807567, LOC126807568, LOC126807569, LOC126807570, LOC126807571, LOC126807572, LOC126807573, LOC126807574, LOC126807575, LOC126807576, LOC126807577, LOC126807578, LOC126807579, LOC126807580, LOC126807581, LOC126807582, LOC126807583, LOC126807584, LOC126807585, LOC126807586, LOC126807587, LOC126807588, LOC126807589, LOC126807590, LOC126807591, LOC126807592, LOC126807593, LOC126807594, LOC126807595, LOC126807596, LOC126807597, LOC126807598, LOC126807599, LOC126807600, LOC126807601, LOC126807602, LOC126807603, LOC126807604, LOC126807605, LOC126807606, LOC126807607, LOC126807608, LOC126807609, LOC126807610, LOC126807611, LOC126807612, LOC126807613, LOC126807614, LOC126807615, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC126807621, LOC126807622, LOC126807623, LOC126807624, LOC126807625, LOC126807626, LOC126807627, LOC126807628, LOC126807629, LOC126807630, LOC126807631, LOC126807632, LOC126807633, LOC128772274, LOC285626, LSM11, LTC4S, MAML1, MAPK9, MAT2B, MED7, MFAP3, MGAT1, MGAT4B, MIR103A1, MIR103B1, MIR10523, MIR12118, MIR12125, MIR1229, MIR1271, MIR1294, MIR1303, MIR146A, MIR218-2, MIR3141, MIR3142, MIR3142HG, MIR340, MIR378A, MIR378E, MIR378H, MIR3912, MIR4281, MIR4634, MIR4638, MIR5003, MIR585, MIR6499, MIR8056, MIR8089, MRNIP, MRNIP-DT, MRPL22, MSANTD5, MSX2, MXD3, MYOZ3, N4BP3, NDST1, NDST1-AS1, NEURL1B, NHP2, NIPAL4, NIPAL4-DT, NKX2-5, NMUR2, NOP16, NPM1, NSD1, NSG2, NUDCD2, OR2V1, OR2V2, OR2Y1, PANK3, PDE6A, PDGFRB, PDLIM7, PFN3, PHYKPL, PPARGC1B, PPP1R2B, PRELID1, PROP1, PRR7, PRR7-AS1, PTTG1, PWWP2A, RAB24, RACK1, RANBP17, RARS1, RASGEF1C, RBM22, RGS14, RMND5B, RNF130, RNF145, RNF44, RPL26L1, RPL26L1-AS1, RPS14, RUFY1, RUFY1-AS1, SAP30L, SAP30L-AS1, SCGB3A1, SFXN1, SGCD, SH3PXD2B, SIMC1, SLC26A2, SLC34A1, SLC36A1, SLC36A2, SLC36A3, SLC6A7, SLIT3, SLIT3-AS1, SLIT3-AS2, SLU7, SMIM23, SMIM3, SNCB, SNORA70J, SNORA74B, SNORD95, SNORD96A, SOX30, SPARC, SPDL1, SQSTM1, STC2, STK10, SYNPO, TBC1D9B, TCOF1, TENM2, TENM2-AS1, THG1L, THOC3, THOC3-AS1, TIGD6, TIMD4, TRIM52-AS1, TLX3, TMED9, TNIP1, TRA-TGC3-1, TRIM41, TRIM52, TRIM7, TRIM7-AS2, TRK-CTT2-2, TRK-CTT2-3, TRL-AAG1-1, TRL-AAG1-2, TRL-AAG1-3, TRL-AAG2-1, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-2, TRV-AAC1-3, TRV-AAC1-4, TRV-AAC2-1, TRV-CAC1-2, TRV-CAC1-3, TRV-CAC1-4, TRV-CAC1-5, TSPAN17, TTC1, UBLCP1, UBTD2, UIMC1, UNC5A, WWC1, ZFP2, ZFP62, ZNF300, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156252523-180696806
- GRCh38:
- Chr5:156825512-181269805
| ADAM19, ADAMTS2, ADRA1B, ARL10, ATP10B, ATP6V0E1, B4GALT7, BNIP1, BOD1, BTNL3, BTNL8, BTNL9, C1QTNF2, C5orf47, C5orf52, C5orf58, C5orf60, CANX, CBY3, CCNG1, CCNJL, CDHR2, CLINT1, CLK4, CLTB, CNOT6, COL23A1, CPEB4, CPLX2, CREBRF, CTC-338M12.4, CYFIP2, DBN1, DDX41, DOCK2, DOK3, DRD1, DUSP1, EBF1, EFCAB9, EIF4E1B, ERGIC1, F12, FABP6, FABP6-AS1, FAF2, FAM153A, FAM153B, FAM193B, FAM200C, FBLL1, FBXW11, FGF18, FGFR4, FLT4, FNDC9, FOXI1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GARIN3, GFPT2, GMCL2, GPRIN1, GRK6, GRM6, HAVCR1, HAVCR2, HEIH, HIGD2A, HK3, HMMR, HMMR-AS1, HNRNPAB, HNRNPH1, HRH2, IL12B, INSYN2B, ITK, KCNIP1, KCNIP1-AS1, KCNIP1-OT1, KCNMB1, KIAA1191, LCP2, LINC00847, LINC01187, LINC01202, LINC01366, LINC01411, LINC01484, LINC01485, LINC01574, LINC01845, LINC01847, LINC01932, LINC01938, LINC01942, LINC01944, LINC01947, LINC01951, LINC01962, LINC02143, LINC02159, LINC02202, LINC02222, LINC02227, LINC02995, LINC03000, LMAN2, LOC100128059, LOC100128340, LOC100130798, LOC100288254, LOC100289470, LOC100502572, LOC100507387, LOC100996385, LOC101927908, LOC101928093, LOC102546299, LOC105377763, LOC105980006, LOC105980008, LOC108004526, LOC109279841, LOC110120620, LOC110120643, LOC110120714, LOC110120747, LOC110120777, LOC110120965, LOC110120995, LOC110120998, LOC110121000, LOC110121027, LOC110121041, LOC110121211, LOC110121241, LOC110121272, LOC110121284, LOC111500319, LOC111556140, LOC112997571, LOC112997572, LOC112997574, LOC112997575, LOC112997576, LOC112997577, LOC112997578, LOC112997579, LOC112997580, LOC112997581, LOC112997582, LOC112997583, LOC112997584, LOC114004391, LOC116158527, LOC116158528, LOC116158530, LOC116158531, LOC116158532, LOC116158533, LOC116158534, LOC116158535, LOC116158536, LOC121099711, LOC121099712, LOC121099713, LOC121099714, LOC121099715, LOC121099716, LOC121099717, LOC121099718, LOC121740632, LOC121740633, LOC121740634, LOC121740635, LOC123575606, LOC123575607, LOC123575608, LOC123575609, LOC123575610, LOC123575611, LOC123575612, LOC123575614, LOC123575615, LOC123575616, LOC123575617, LOC123575618, LOC123575619, LOC123575620, LOC123575621, LOC123575622, LOC123575623, LOC123575624, LOC123575625, LOC123575626, LOC123575627, LOC123575628, LOC123575629, LOC123575630, LOC123575631, LOC123575632, LOC123575633, LOC123575634, LOC123575635, LOC123575636, LOC123575637, LOC123575638, LOC123575639, LOC123575640, LOC123575641, LOC126807567, LOC126807568, LOC126807569, LOC126807570, LOC126807571, LOC126807572, LOC126807573, LOC126807574, LOC126807575, LOC126807576, LOC126807577, LOC126807578, LOC126807579, LOC126807580, LOC126807581, LOC126807582, LOC126807583, LOC126807584, LOC126807585, LOC126807586, LOC126807587, LOC126807588, LOC126807589, LOC126807590, LOC126807591, LOC126807592, LOC126807593, LOC126807594, LOC126807595, LOC126807596, LOC126807597, LOC126807598, LOC126807599, LOC126807600, LOC126807601, LOC126807602, LOC126807603, LOC126807604, LOC126807605, LOC126807606, LOC126807607, LOC126807608, LOC126807609, LOC126807610, LOC126807611, LOC126807612, LOC126807613, LOC126807614, LOC126807615, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC126807621, LOC126807622, LOC126807623, LOC126807624, LOC126807625, LOC126807626, LOC126807627, LOC126807628, LOC126807629, LOC126807630, LOC126807631, LOC126807632, LOC126807633, LOC285626, LSM11, LTC4S, MAML1, MAPK9, MAT2B, MED7, MGAT1, MGAT4B, MIR103A1, MIR103B1, MIR10523, MIR12118, MIR12125, MIR1229, MIR1271, MIR146A, MIR218-2, MIR3142, MIR3142HG, MIR340, MIR378E, MIR3912, MIR4281, MIR4634, MIR4638, MIR5003, MIR585, MIR8056, MIR8089, MRNIP, MRNIP-DT, MSANTD5, MSX2, MXD3, N4BP3, NEURL1B, NHP2, NIPAL4, NIPAL4-DT, NKX2-5, NOP16, NPM1, NSD1, NSG2, NUDCD2, OR2V1, OR2V2, OR2Y1, PANK3, PDLIM7, PFN3, PHYKPL, PPP1R2B, PRELID1, PROP1, PRR7, PRR7-AS1, PTTG1, PWWP2A, RAB24, RACK1, RANBP17, RARS1, RASGEF1C, RGS14, RMND5B, RNF130, RNF145, RNF44, RPL26L1, RPL26L1-AS1, RUFY1, RUFY1-AS1, SCGB3A1, SFXN1, SH3PXD2B, SIMC1, SLC34A1, SLIT3, SLIT3-AS1, SLIT3-AS2, SLU7, SMIM23, SNCB, SNORA70J, SNORA74B, SNORD95, SNORD96A, SOX30, SPDL1, SQSTM1, STC2, STK10, TBC1D9B, TENM2, TENM2-AS1, THG1L, THOC3, THOC3-AS1, TIMD4, TLX3, TMED9, TRA-TGC3-1, TRIM41, TRIM52, TRIM52-AS1, TRIM7, TRIM7-AS2, TRK-CTT2-2, TRK-CTT2-3, TRL-AAG1-1, TRL-AAG1-2, TRL-AAG1-3, TRL-AAG2-1, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-2, TRV-AAC1-3, TRV-AAC1-4, TRV-AAC2-1, TRV-CAC1-2, TRV-CAC1-3, TRV-CAC1-4, TRV-CAC1-5, TSPAN17, TTC1, UBLCP1, UBTD2, UIMC1, UNC5A, WWC1, ZFP2, ZFP62, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879 | | See cases | Pathogenic (Dec 30, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr5:163813707-180696806
- GRCh38:
- Chr5:164386701-181269805
| ADAMTS2, ARL10, ATP6V0E1, B4GALT7, BNIP1, BOD1, BTNL3, BTNL8, BTNL9, C5orf47, C5orf58, C5orf60, CANX, CBY3, CDHR2, CLK4, CLTB, CNOT6, COL23A1, CPEB4, CPLX2, CREBRF, CTC-338M12.4, DBN1, DDX41, DOCK2, DOK3, DRD1, DUSP1, EFCAB9, EIF4E1B, ERGIC1, F12, FAF2, FAM153A, FAM153B, FAM193B, FBLL1, FBXW11, FGF18, FGFR4, FLT4, FOXI1, GABRP, GFPT2, GMCL2, GPRIN1, GRK6, GRM6, HEIH, HIGD2A, HK3, HNRNPAB, HNRNPH1, HRH2, INSYN2B, KCNIP1, KCNIP1-AS1, KCNIP1-OT1, KCNMB1, KIAA1191, LCP2, LINC00847, LINC01187, LINC01366, LINC01411, LINC01484, LINC01485, LINC01574, LINC01938, LINC01942, LINC01944, LINC01947, LINC01951, LINC01962, LINC02143, LINC02222, LINC02995, LINC03000, LMAN2, LOC100128059, LOC100128340, LOC100130798, LOC100288254, LOC100289470, LOC100502572, LOC100507387, LOC100996385, LOC101927908, LOC101928093, LOC102546299, LOC105377763, LOC105980006, LOC105980008, LOC108004526, LOC109279841, LOC110120643, LOC110120714, LOC110120747, LOC110121041, LOC110121211, LOC110121241, LOC110121272, LOC110121284, LOC111500319, LOC111556140, LOC112997575, LOC112997576, LOC112997577, LOC112997578, LOC112997579, LOC112997580, LOC112997581, LOC112997582, LOC112997583, LOC112997584, LOC114004391, LOC116158527, LOC116158528, LOC116158530, LOC116158531, LOC116158532, LOC116158533, LOC116158534, LOC116158535, LOC116158536, LOC121099713, LOC121099714, LOC121099715, LOC121099716, LOC121099717, LOC121099718, LOC121740632, LOC121740633, LOC121740634, LOC121740635, LOC123575609, LOC123575610, LOC123575611, LOC123575612, LOC123575614, LOC123575615, LOC123575616, LOC123575617, LOC123575618, LOC123575619, LOC123575620, LOC123575621, LOC123575622, LOC123575623, LOC123575624, LOC123575625, LOC123575626, LOC123575627, LOC123575628, LOC123575629, LOC123575630, LOC123575631, LOC123575632, LOC123575633, LOC123575634, LOC123575635, LOC123575636, LOC123575637, LOC123575638, LOC123575639, LOC123575640, LOC123575641, LOC126807577, LOC126807578, LOC126807579, LOC126807580, LOC126807581, LOC126807582, LOC126807583, LOC126807584, LOC126807585, LOC126807586, LOC126807587, LOC126807588, LOC126807589, LOC126807590, LOC126807591, LOC126807592, LOC126807593, LOC126807594, LOC126807595, LOC126807596, LOC126807597, LOC126807598, LOC126807599, LOC126807600, LOC126807601, LOC126807602, LOC126807603, LOC126807604, LOC126807605, LOC126807606, LOC126807607, LOC126807608, LOC126807609, LOC126807610, LOC126807611, LOC126807612, LOC126807613, LOC126807614, LOC126807615, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC126807621, LOC126807622, LOC126807623, LOC126807624, LOC126807625, LOC126807626, LOC126807627, LOC126807628, LOC126807629, LOC126807630, LOC126807631, LOC126807632, LOC126807633, LTC4S, MAML1, MAPK9, MGAT1, MGAT4B, MIR103A1, MIR103B1, MIR10523, MIR12118, MIR12125, MIR1229, MIR1271, MIR218-2, MIR340, MIR378E, MIR3912, MIR4281, MIR4634, MIR4638, MIR5003, MIR585, MIR8056, MIR8089, MRNIP, MRNIP-DT, MSANTD5, MSX2, MXD3, N4BP3, NEURL1B, NHP2, NKX2-5, NOP16, NPM1, NSD1, NSG2, OR2V1, OR2V2, OR2Y1, PANK3, PDLIM7, PFN3, PHYKPL, PRELID1, PROP1, PRR7, PRR7-AS1, RAB24, RACK1, RANBP17, RARS1, RASGEF1C, RGS14, RMND5B, RNF130, RNF44, RPL26L1, RPL26L1-AS1, RUFY1, RUFY1-AS1, SCGB3A1, SFXN1, SH3PXD2B, SIMC1, SLC34A1, SLIT3, SLIT3-AS1, SLIT3-AS2, SMIM23, SNCB, SNORA70J, SNORA74B, SNORD95, SNORD96A, SPDL1, SQSTM1, STC2, STK10, TBC1D9B, TENM2, TENM2-AS1, THOC3, THOC3-AS1, TLX3, TMED9, TRA-TGC3-1, TRIM41, TRIM52, TRIM52-AS1, TRIM7, TRIM7-AS2, TRK-CTT2-2, TRK-CTT2-3, TRL-AAG1-1, TRL-AAG1-2, TRL-AAG1-3, TRL-AAG2-1, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-2, TRV-AAC1-3, TRV-AAC1-4, TRV-AAC2-1, TRV-CAC1-2, TRV-CAC1-3, TRV-CAC1-4, TRV-CAC1-5, TSPAN17, UBTD2, UIMC1, UNC5A, WWC1, ZFP2, ZFP62, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879 | | See cases | Pathogenic (Jan 14, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr5:168761759-180712302
- GRCh38:
- Chr5:169334755-181285301
| LOC126807599, LOC126807600, LOC126807601, LOC126807602, LOC126807603, LOC126807604, LOC126807605, LOC126807606, LOC126807607, LOC126807608, LOC126807609, LOC126807610, LOC126807611, LOC126807612, LOC126807613, LOC126807614, LOC126807615, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC126807621, LOC126807622, LOC126807623, LOC126807624, LOC126807625, LOC126807626, LOC126807627, LOC126807628, LOC126807629, LOC126807630, LOC126807631, LOC126807632, LOC126807633, LTC4S, MAML1, MAPK9, MGAT1, MGAT4B, MIR10523, MIR12118, MIR1229, MIR1271, MIR340, MIR378E, MIR3912, MIR4281, MIR4634, MIR4638, MIR5003, MIR8056, MIR8089, MRNIP, MRNIP-DT, MSANTD5, MSX2, MXD3, N4BP3, NEURL1B, NHP2, NKX2-5, NOP16, NPM1, NSD1, NSG2, OR2V1, OR2V2, OR2Y1, PDLIM7, PFN3, PHYKPL, PRELID1, PROP1, PRR7, PRR7-AS1, RAB24, RACK1, RANBP17, RASGEF1C, RGS14, RMND5B, RNF130, RNF44, RPL26L1, RPL26L1-AS1, RUFY1, RUFY1-AS1, SCGB3A1, SFXN1, SH3PXD2B, SIMC1, SLC34A1, SMIM23, SNCB, SNORA70J, SNORA74B, SNORD95, SNORD96A, SPDL1, SQSTM1, STC2, STK10, TBC1D9B, THOC3, THOC3-AS1, TLX3, TMED9, TRA-TGC3-1, TRIM41, TRIM52, TRIM52-AS1, TRIM7, TRIM7-AS2, TRK-CTT2-2, TRK-CTT2-3, TRL-AAG1-1, TRL-AAG1-2, TRL-AAG1-3, TRL-AAG2-1, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-2, TRV-AAC1-3, TRV-AAC1-4, TRV-AAC2-1, TRV-CAC1-2, TRV-CAC1-3, TRV-CAC1-4, TRV-CAC1-5, TSPAN17, UBTD2, UIMC1, UNC5A, ZFP2, ZFP62, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879, ADAMTS2, ARL10, ATP6V0E1, B4GALT7, BNIP1, BOD1, BTNL3, BTNL8, BTNL9, C5orf47, C5orf58, C5orf60, CANX, CBY3, CDHR2, CLK4, CLTB, CNOT6, COL23A1, CPEB4, CPLX2, CREBRF, CTC-338M12.4, DBN1, DDX41, DOCK2, DOK3, DRD1, DUSP1, EFCAB9, EIF4E1B, ERGIC1, F12, FAF2, FAM153A, FAM153B, FAM193B, FBXW11, FGF18, FGFR4, FLT4, FOXI1, GABRP, GFPT2, GMCL2, GPRIN1, GRK6, GRM6, HEIH, HIGD2A, HK3, HNRNPAB, HNRNPH1, HRH2, INSYN2B, KCNIP1, KCNIP1-AS1, KCNIP1-OT1, KCNMB1, KIAA1191, LCP2, LINC00847, LINC01187, LINC01366, LINC01411, LINC01484, LINC01485, LINC01574, LINC01942, LINC01944, LINC01951, LINC01962, LINC02222, LINC02995, LMAN2, LOC100128059, LOC100128340, LOC100130798, LOC100288254, LOC100289470, LOC100502572, LOC100507387, LOC100996385, LOC101928093, LOC105377763, LOC105980006, LOC105980008, LOC108004526, LOC109279841, LOC110120643, LOC110120714, LOC110120747, LOC110121041, LOC110121211, LOC110121241, LOC110121272, LOC110121284, LOC111500319, LOC111556140, LOC112997575, LOC112997576, LOC112997577, LOC112997578, LOC112997579, LOC112997580, LOC112997581, LOC112997582, LOC112997583, LOC112997584, LOC114004391, LOC116158527, LOC116158528, LOC116158530, LOC116158531, LOC116158532, LOC116158533, LOC116158534, LOC116158535, LOC116158536, LOC121099713, LOC121099714, LOC121099715, LOC121099716, LOC121099717, LOC121099718, LOC121740632, LOC121740633, LOC121740634, LOC121740635, LOC123575612, LOC123575614, LOC123575615, LOC123575616, LOC123575617, LOC123575618, LOC123575619, LOC123575620, LOC123575621, LOC123575622, LOC123575623, LOC123575624, LOC123575625, LOC123575626, LOC123575627, LOC123575628, LOC123575629, LOC123575630, LOC123575631, LOC123575632, LOC123575633, LOC123575634, LOC123575635, LOC123575636, LOC123575637, LOC123575638, LOC123575639, LOC123575640, LOC123575641, LOC126807589, LOC126807590, LOC126807591, LOC126807592, LOC126807593, LOC126807594, LOC126807595, LOC126807596, LOC126807597, LOC126807598 | | See cases | Pathogenic (Jan 9, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr5:174963774-180719789
- GRCh38:
- Chr5:175536771-181292788
| ADAMTS2, ARL10, B4GALT7, BTNL3, BTNL8, BTNL9, C5orf60, CANX, CBY3, CDHR2, CLK4, CLTB, CNOT6, COL23A1, CPLX2, CTC-338M12.4, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM153A, FAM153B, FAM193B, FGFR4, FLT4, GFPT2, GMCL2, GPRIN1, GRK6, GRM6, HEIH, HIGD2A, HK3, HNRNPAB, HNRNPH1, HRH2, KIAA1191, LINC00847, LINC01574, LINC01962, LINC02222, LMAN2, LOC100128340, LOC100130798, LOC100289470, LOC100502572, LOC100507387, LOC100996385, LOC105377763, LOC105980006, LOC105980008, LOC109279841, LOC110121241, LOC110121284, LOC111556140, LOC112997580, LOC112997581, LOC112997582, LOC112997583, LOC112997584, LOC114004391, LOC116158533, LOC116158534, LOC116158535, LOC116158536, LOC121099715, LOC121099716, LOC121099717, LOC121099718, LOC121740633, LOC121740634, LOC121740635, LOC123575627, LOC123575628, LOC123575629, LOC123575630, LOC123575631, LOC123575632, LOC123575633, LOC123575634, LOC123575635, LOC123575636, LOC123575637, LOC123575638, LOC123575639, LOC123575640, LOC123575641, LOC126807615, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC126807621, LOC126807622, LOC126807623, LOC126807624, LOC126807625, LOC126807626, LOC126807627, LOC126807628, LOC126807629, LOC126807630, LOC126807631, LOC126807632, LOC126807633, LTC4S, MAML1, MAPK9, MGAT1, MGAT4B, MIR1229, MIR1271, MIR340, MIR4281, MIR4638, MIR8089, MRNIP, MRNIP-DT, MSANTD5, MXD3, N4BP3, NHP2, NOP16, NSD1, OR2V1, OR2V2, OR2Y1, PDLIM7, PFN3, PHYKPL, PRELID1, PROP1, PRR7, PRR7-AS1, RAB24, RACK1, RASGEF1C, RGS14, RMND5B, RNF130, RNF44, RUFY1, RUFY1-AS1, SCGB3A1, SIMC1, SLC34A1, SNCB, SNORD95, SNORD96A, SQSTM1, TBC1D9B, THOC3, THOC3-AS1, TMED9, TRA-TGC3-1, TRIM41, TRIM52, TRIM52-AS1, TRIM7, TRIM7-AS2, TRK-CTT2-2, TRK-CTT2-3, TRL-AAG1-1, TRL-AAG1-2, TRL-AAG1-3, TRL-AAG2-1, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-2, TRV-AAC1-3, TRV-AAC1-4, TRV-AAC2-1, TRV-CAC1-2, TRV-CAC1-3, TRV-CAC1-4, TRV-CAC1-5, TSPAN17, UIMC1, UNC5A, ZFP2, ZFP62, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879 | | See cases | Pathogenic (Aug 5, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr5:175316989-180220986
- GRCh38:
- Chr5:175889986-180793986
| ADAMTS2, ARL10, B4GALT7, C5orf60, CANX, CBY3, CDHR2, CLK4, CLTB, CNOT6, COL23A1, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM153A, FAM153B, FAM193B, FGFR4, FLT4, GFPT2, GMCL2, GPRIN1, GRK6, GRM6, HIGD2A, HK3, HNRNPAB, HNRNPH1, KIAA1191, LINC01574, LINC02222, LMAN2, LOC100128340, LOC100130798, LOC100289470, LOC100502572, LOC100507387, LOC100996385, LOC105377763, LOC105980006, LOC105980008, LOC109279841, LOC110121241, LOC110121284, LOC111556140, LOC112997581, LOC112997582, LOC112997583, LOC112997584, LOC114004391, LOC116158533, LOC116158534, LOC116158535, LOC116158536, LOC121099715, LOC121099716, LOC121099717, LOC121099718, LOC121740633, LOC121740634, LOC121740635, LOC123575628, LOC123575629, LOC123575630, LOC123575631, LOC123575632, LOC123575633, LOC123575634, LOC123575635, LOC123575636, LOC123575637, LOC126807615, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC126807621, LOC126807622, LOC126807623, LOC126807624, LOC126807625, LOC126807626, LOC126807627, LOC126807628, LOC126807629, LOC126807630, LOC126807631, LOC126807632, LTC4S, MAML1, MAPK9, MGAT1, MGAT4B, MIR1229, MIR1271, MIR340, MIR4281, MRNIP, MRNIP-DT, MSANTD5, MXD3, N4BP3, NHP2, NOP16, NSD1, OR2Y1, PDLIM7, PFN3, PHYKPL, PRELID1, PROP1, PRR7, PRR7-AS1, RAB24, RASGEF1C, RGS14, RMND5B, RNF130, RNF44, RUFY1, RUFY1-AS1, SCGB3A1, SIMC1, SLC34A1, SNCB, SQSTM1, TBC1D9B, THOC3, THOC3-AS1, TMED9, TSPAN17, UIMC1, UNC5A, ZFP2, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176127129-180696806
- GRCh38:
- Chr5:176700128-181269805
| NHP2, NSD1, OR2V1, OR2V2, OR2Y1, PDLIM7, PFN3, PHYKPL, PRELID1, PROP1, PRR7, PRR7-AS1, RAB24, RACK1, RASGEF1C, RGS14, RMND5B, RNF130, RUFY1, RUFY1-AS1, SCGB3A1, SLC34A1, SNORD95, SNORD96A, SQSTM1, TBC1D9B, TMED9, TRA-TGC3-1, TRIM41, TRIM52, TRIM52-AS1, TRIM7, TRIM7-AS2, TRK-CTT2-2, TRK-CTT2-3, TRL-AAG1-1, TRL-AAG1-2, TRL-AAG1-3, TRL-AAG2-1, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-2, TRV-AAC1-3, TRV-AAC1-4, TRV-AAC2-1, TRV-CAC1-2, TRV-CAC1-3, TRV-CAC1-4, TRV-CAC1-5, UIMC1, UNC5A, ZFP2, ZFP62, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879, ADAMTS2, B4GALT7, BTNL3, BTNL8, BTNL9, C5orf60, CANX, CBY3, CLK4, CNOT6, COL23A1, CTC-338M12.4, DBN1, DDX41, DOK3, F12, FAM153A, FAM193B, FGFR4, FLT4, GFPT2, GMCL2, GRK6, GRM6, HEIH, HK3, HNRNPAB, HNRNPH1, LINC00847, LINC01574, LINC01962, LINC02222, LMAN2, LOC100128340, LOC100130798, LOC100289470, LOC100502572, LOC105377763, LOC105980008, LOC109279841, LOC110121284, LOC111556140, LOC112997581, LOC112997582, LOC112997583, LOC112997584, LOC116158533, LOC116158534, LOC116158535, LOC116158536, LOC121099716, LOC121099717, LOC121099718, LOC121740633, LOC121740634, LOC121740635, LOC123575631, LOC123575632, LOC123575633, LOC123575634, LOC123575635, LOC123575636, LOC123575637, LOC123575638, LOC123575639, LOC123575640, LOC123575641, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC126807621, LOC126807622, LOC126807623, LOC126807624, LOC126807625, LOC126807626, LOC126807627, LOC126807628, LOC126807629, LOC126807630, LOC126807631, LOC126807632, LOC126807633, LTC4S, MAML1, MAPK9, MGAT1, MGAT4B, MIR1229, MIR340, MIR4638, MIR8089, MRNIP, MRNIP-DT, MSANTD5, MXD3, N4BP3 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr5:177662910-180719789
- GRCh38:
- Chr5:178235909-181292788
| ADAMTS2, BTNL3, BTNL8, BTNL9, C5orf60, CANX, CBY3, CLK4, CNOT6, COL23A1, CTC-338M12.4, FLT4, GFPT2, GRM6, HEIH, HNRNPH1, LINC00847, LINC01962, LINC02222, LOC100130798, LOC100289470, LOC100502572, LOC105377763, LOC111556140, LOC112997581, LOC112997582, LOC112997583, LOC112997584, LOC116158536, LOC121740635, LOC123575632, LOC123575633, LOC123575634, LOC123575635, LOC123575636, LOC123575637, LOC123575638, LOC123575639, LOC123575640, LOC123575641, LOC126807622, LOC126807623, LOC126807624, LOC126807625, LOC126807626, LOC126807627, LOC126807628, LOC126807629, LOC126807630, LOC126807631, LOC126807632, LOC126807633, LTC4S, MAML1, MAPK9, MGAT1, MGAT4B, MIR1229, MIR340, MIR4638, MIR8089, MRNIP, MRNIP-DT, MSANTD5, OR2V1, OR2V2, OR2Y1, RACK1, RASGEF1C, RNF130, RUFY1, RUFY1-AS1, SCGB3A1, SNORD95, SNORD96A, SQSTM1, TBC1D9B, TRA-TGC3-1, TRIM41, TRIM52, TRIM52-AS1, TRIM7, TRIM7-AS2, TRK-CTT2-2, TRK-CTT2-3, TRL-AAG1-1, TRL-AAG1-2, TRL-AAG1-3, TRL-AAG2-1, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-2, TRV-AAC1-3, TRV-AAC1-4, TRV-AAC2-1, TRV-CAC1-2, TRV-CAC1-3, TRV-CAC1-4, TRV-CAC1-5, ZFP2, ZFP62, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879 | | See cases | Likely pathogenic (Mar 18, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr5:177956879-180696806
- GRCh38:
- Chr5:178529878-181269805
| ADAMTS2, BTNL3, BTNL8, BTNL9, C5orf60, CANX, CBY3, CLK4, CNOT6, COL23A1, CTC-338M12.4, FLT4, GFPT2, GRM6, HEIH, HNRNPH1, LINC00847, LINC01962, LINC02222, LOC100130798, LOC100289470, LOC100502572, LOC105377763, LOC111556140, LOC112997581, LOC112997582, LOC112997583, LOC112997584, LOC116158536, LOC121740635, LOC123575632, LOC123575633, LOC123575634, LOC123575635, LOC123575636, LOC123575637, LOC123575638, LOC123575639, LOC123575640, LOC123575641, LOC126807623, LOC126807624, LOC126807625, LOC126807626, LOC126807627, LOC126807628, LOC126807629, LOC126807630, LOC126807631, LOC126807632, LOC126807633, LTC4S, MAML1, MAPK9, MGAT1, MGAT4B, MIR1229, MIR340, MIR4638, MIR8089, MRNIP, MRNIP-DT, MSANTD5, OR2V1, OR2V2, OR2Y1, RACK1, RASGEF1C, RNF130, RUFY1, RUFY1-AS1, SCGB3A1, SNORD95, SNORD96A, SQSTM1, TBC1D9B, TRA-TGC3-1, TRIM41, TRIM52, TRIM52-AS1, TRIM7, TRIM7-AS2, TRK-CTT2-2, TRK-CTT2-3, TRL-AAG1-1, TRL-AAG1-2, TRL-AAG1-3, TRL-AAG2-1, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-2, TRV-AAC1-3, TRV-AAC1-4, TRV-AAC2-1, TRV-CAC1-2, TRV-CAC1-3, TRV-CAC1-4, TRV-CAC1-5, ZFP2, ZFP62, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879 | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr5:179096737-180324169
- GRCh38:
- Chr5:179669736-180897169
| CANX, CBY3, CNOT6, FLT4, GFPT2, HEIH, LINC00847, LINC02222, LOC105377763, LOC111556140, LOC112997583, LOC112997584, LOC121740635, LOC123575635, LOC123575636, LOC123575637, LOC123575638, LOC123575639, LOC126807626, LOC126807627, LOC126807628, LOC126807629, LOC126807630, LOC126807631, LOC126807632, LTC4S, MAML1, MAPK9, MGAT1, MGAT4B, MIR1229, MIR340, MRNIP, MRNIP-DT, OR2Y1, RASGEF1C, RNF130, SCGB3A1, SQSTM1, TBC1D9B, ZFP62 | | See cases | Likely pathogenic (Nov 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr5:180008319-180273638
- GRCh38:
- Chr5:180581319-180846638
| FLT4, HEIH, LINC00847, LINC02222, LOC123575638, LOC123575639, LOC126807632, MGAT1, OR2Y1, SCGB3A1, ZFP62 | | See cases | Benign (Oct 14, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr5:180030132
- GRCh38:
- Chr5:180603132
| FLT4 | | not provided | Benign (Jun 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180030278
- GRCh38:
- Chr5:180603278
| FLT4 | E1336K | not provided | Benign/Likely benign (Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:180030279
- GRCh38:
- Chr5:180603279
| FLT4 | | not specified | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr5:180030283
- GRCh38:
- Chr5:180603283
| FLT4 | N1334S | Inborn genetic diseases | Uncertain significance (Aug 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180030285
- GRCh38:
- Chr5:180603285
| FLT4 | Y1333* | not provided | Likely pathogenic (Sep 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180030313
- GRCh38:
- Chr5:180603313
| FLT4 | R1324L | not specified, not provided | Benign (Jan 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:180030313
- GRCh38:
- Chr5:180603313
| FLT4 | R1324P | not specified | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr5:180030322
- GRCh38:
- Chr5:180603322
| FLT4 | R1321Q | not specified, not provided | Benign/Likely benign (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:180030323
- GRCh38:
- Chr5:180603323
| FLT4 | R1321W | Inborn genetic diseases | Uncertain significance (Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180030325
- GRCh38:
- Chr5:180603325
| FLT4 | R1320Q | not specified, not provided | Benign (Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:180030376
- GRCh38:
- Chr5:180603376
| FLT4 | G1303A | not provided, not specified | Benign/Likely benign (Dec 8, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:180030391
- GRCh38:
- Chr5:180603391
| FLT4 | | not specified | Uncertain significance (Feb 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180035347
- GRCh38:
- Chr5:180608347
| FLT4 | | not provided | Benign (Jun 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180035504
- GRCh38:
- Chr5:180608504
| FLT4 | | not provided | Benign (Jun 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180035792
- GRCh38:
- Chr5:180608792
| FLT4 | | not provided | Benign (Jun 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180035975
- GRCh38:
- Chr5:180608975
| FLT4 | G1296S | not provided | Likely benign (Jul 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180035994
- GRCh38:
- Chr5:180608994
| FLT4 | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180035999
- GRCh38:
- Chr5:180608999
| FLT4 | E1288Q | not provided | Uncertain significance (Apr 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180036037
- GRCh38:
- Chr5:180609037
| FLT4 | S1275T | not provided | Uncertain significance (Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180036040
- GRCh38:
- Chr5:180609040
| FLT4 | D1274V | Hereditary lymphedema type I | Likely pathogenic (Oct 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180036239
- GRCh38:
- Chr5:180609239
| FLT4 | | not provided | Benign (Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180036318
- GRCh38:
- Chr5:180609318
| FLT4 | | not provided | Benign (Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180036871
- GRCh38:
- Chr5:180609871
| FLT4 | | not specified, not provided | Benign (Nov 11, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:180036928
- GRCh38:
- Chr5:180609928
| FLT4 | P1262S | Inborn genetic diseases | Uncertain significance (Jan 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180036934
- GRCh38:
- Chr5:180609934
| FLT4 | M1260V | Inborn genetic diseases | Uncertain significance (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180036959
- GRCh38:
- Chr5:180609959
| FLT4 | R1251S | Inborn genetic diseases | Uncertain significance (Aug 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180037317
- GRCh38:
- Chr5:180610317
| FLT4 | | not provided | Benign (Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180038248-180038249
- GRCh38:
- Chr5:180611248-180611249
| FLT4 | | not provided | Benign (Jun 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180038336
- GRCh38:
- Chr5:180611336
| FLT4 | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180038407
- GRCh38:
- Chr5:180611407
| FLT4 | T1204A | Hereditary lymphedema type I | Uncertain significance (Aug 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180038443
- GRCh38:
- Chr5:180611443
| FLT4 | Q1192* | Congenital heart defects, multiple types, 7 | Pathogenic (Feb 18, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr5:180038471
- GRCh38:
- Chr5:180611471
| FLT4 | E1182D | Inborn genetic diseases | Uncertain significance (Jun 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180038545
- GRCh38:
- Chr5:180611545
| FLT4 | | not provided | Benign (Jun 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180038679-180038680
- GRCh38:
- Chr5:180611679-180611680
| FLT4 | | not provided | Benign (Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180038696
- GRCh38:
- Chr5:180611696
| FLT4 | | not provided | Benign (Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180038711
- GRCh38:
- Chr5:180611711
| FLT4 | | not provided | Benign (Jun 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180039187
- GRCh38:
- Chr5:180612187
| FLT4 | | not provided | Benign (Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180039485
- GRCh38:
- Chr5:180612485
| FLT4 | | not specified | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr5:180039583
- GRCh38:
- Chr5:180612583
| FLT4 | G1154R | not provided | Benign/Likely benign (Oct 25, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:180039606
- GRCh38:
- Chr5:180612606
| FLT4 | R1146H | not specified, not provided | Benign (Jun 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:180039607
- GRCh38:
- Chr5:180612607
| FLT4 | R1146G | not provided | Uncertain significance (Apr 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180040032
- GRCh38:
- Chr5:180613032
| FLT4 | P1137L | Hereditary lymphedema type I | Likely pathogenic (Feb 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180040051
- GRCh38:
- Chr5:180613051
| FLT4 | G1131R | not provided | Likely pathogenic (Feb 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180040051
- GRCh38:
- Chr5:180613051
| FLT4 | G1131S | Inborn genetic diseases | Likely pathogenic (Mar 22, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180040101
- GRCh38:
- Chr5:180613101
| FLT4 | P1114L | Hereditary lymphedema type I | Pathogenic (Jun 1, 2000) | no assertion criteria provided |
| - GRCh37:
- Chr5:180040110
- GRCh38:
- Chr5:180613110
| FLT4 | G1111E | Hereditary lymphedema type I | Pathogenic (Nov 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180040740
- GRCh38:
- Chr5:180613740
| FLT4 | | not provided | Benign (Jun 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180040918
- GRCh38:
- Chr5:180613918
| FLT4 | | not provided | Benign (Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180041001
- GRCh38:
- Chr5:180614001
| FLT4 | | not provided | Benign (Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180041008
- GRCh38:
- Chr5:180614008
| FLT4 | | not provided | Benign (Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180041074-180041076
- GRCh38:
- Chr5:180614074-180614076
| FLT4 | F1108del | not provided | Pathogenic (Jun 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180041083
- GRCh38:
- Chr5:180614083
| FLT4 | E1106K | Hereditary lymphedema type I | Pathogenic (Jan 1, 2006) | no assertion criteria provided |
| - GRCh37:
- Chr5:180041101
- GRCh38:
- Chr5:180614101
| FLT4 | F1100L | not provided | Uncertain significance (Sep 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180041137
- GRCh38:
- Chr5:180614137
| FLT4 | D1088N | not provided | Uncertain significance (Feb 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180041138
- GRCh38:
- Chr5:180614138
| FLT4 | | not provided | Likely benign (Apr 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180041142
- GRCh38:
- Chr5:180614142
| FLT4 | I1086T | Hereditary lymphedema type I | Pathogenic (Oct 1, 2006) | no assertion criteria provided |
| - GRCh37:
- Chr5:180041152
- GRCh38:
- Chr5:180614152
| FLT4 | P1083S | Hereditary lymphedema type I | Uncertain significance (Feb 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180041157
- GRCh38:
- Chr5:180614157
| FLT4 | M1081R | not provided | Likely pathogenic (Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180041167
- GRCh38:
- Chr5:180614167
| FLT4 | L1078V | not provided | Uncertain significance (Dec 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180041181-180041214
- GRCh38:
- Chr5:180614181-180614214
| FLT4 | | not provided | Benign (Sep 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180041189
- GRCh38:
- Chr5:180614189
| FLT4 | | not provided | Uncertain significance (Feb 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180041189
- GRCh38:
- Chr5:180614189
| FLT4 | | not specified | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr5:180041190
- GRCh38:
- Chr5:180614190
| FLT4 | | not specified | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr5:180041200
- GRCh38:
- Chr5:180614200
| FLT4 | | not specified | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr5:180041208
- GRCh38:
- Chr5:180614208
| FLT4 | | Congenital heart defects, multiple types, 7, not specified, not provided, Hereditary lymphedema type I | Benign (Aug 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:180041242
- GRCh38:
- Chr5:180614242
| FLT4 | | not provided | Benign (Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180041273-180041274
- GRCh38:
- Chr5:180614273-180614274
| FLT4 | | not provided | Benign (Jun 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180041273-180041274
- GRCh38:
- Chr5:180614273-180614274
| FLT4 | | not provided | Benign (Jun 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180041274
- GRCh38:
- Chr5:180614274
| FLT4 | | not provided | Benign (Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180041316
- GRCh38:
- Chr5:180614316
| FLT4 | | not provided | Benign (Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180041491
- GRCh38:
- Chr5:180614491
| FLT4 | | not provided | Benign (Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180043330
- GRCh38:
- Chr5:180616330
| FLT4 | | not provided, not specified | Benign (Jun 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:180043377
- GRCh38:
- Chr5:180616377
| FLT4 | R1070L | Congenital heart defects, multiple types, 7 | Uncertain significance (Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180043378
- GRCh38:
- Chr5:180616378
| FLT4 | R1070C | not provided | Uncertain significance (Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180043388
- GRCh38:
- Chr5:180616388
| FLT4 | | Congenital heart defects, multiple types, 7, Hereditary lymphedema type I, not provided, not specified | Benign (Aug 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:180043405
- GRCh38:
- Chr5:180616405
| FLT4 | D1061H | not provided | Uncertain significance (Jun 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180043407
- GRCh38:
- Chr5:180616407
| FLT4 | R1060P | not provided | Uncertain significance (Jan 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180043411
- GRCh38:
- Chr5:180616411
| FLT4 | A1059P | not provided | Uncertain significance (Nov 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180043414
- GRCh38:
- Chr5:180616414
| FLT4 | L1058V | not provided | Likely pathogenic (Sep 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180043416
- GRCh38:
- Chr5:180616416
| FLT4 | G1057D | not provided | Likely pathogenic (Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180043439
- GRCh38:
- Chr5:180616439
| FLT4 | | not specified, not provided | Benign (Dec 11, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:180043455
- GRCh38:
- Chr5:180616455
| FLT4 | L1044P | Hereditary lymphedema type I | Pathogenic (Jun 1, 2000) | no assertion criteria provided |
| - GRCh37:
- Chr5:180043464
- GRCh38:
- Chr5:180616464
| FLT4 | R1041Q | not provided | Likely pathogenic (Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180043464
- GRCh38:
- Chr5:180616464
| FLT4 | R1041P | Hereditary lymphedema type I | Pathogenic (Jun 1, 2000) | no assertion criteria provided |
| - GRCh37:
- Chr5:180043465
- GRCh38:
- Chr5:180616465
| FLT4 | R1041W | not provided, Hereditary lymphedema type I | Likely pathogenic (May 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:180043478
- GRCh38:
- Chr5:180616478
| FLT4 | R1036S | not specified | Uncertain significance (Jan 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180043482
- GRCh38:
- Chr5:180616482
| FLT4 | H1035R | Hereditary lymphedema type I | Pathogenic (Aug 1, 2000) | no assertion criteria provided |
| - GRCh37:
- Chr5:180043731
- GRCh38:
- Chr5:180616731
| FLT4 | | not provided | Benign (Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:180043920
- GRCh38:
- Chr5:180616920
| FLT4 | E1026fs | Carcinoma of colon | Uncertain significance (May 7, 2014) | no assertion criteria provided |