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Items: 1 to 100 of 314

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
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 casesPathogenic
(Dec 30, 2009)
no assertion criteria provided
3.
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 casesPathogenic
(Jan 14, 2011)
no assertion criteria provided
4.
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 casesPathogenic
(Jan 9, 2013)
no assertion criteria provided
5.
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 casesPathogenic
(Aug 5, 2013)
no assertion criteria provided
6.
GRCh37:
Chr5:175316989-180220986
GRCh38:
Chr5:175889986-180793986
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
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 casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
8.
GRCh37:
Chr5:177662910-180719789
GRCh38:
Chr5:178235909-181292788
See casesLikely pathogenic
(Mar 18, 2014)
no assertion criteria provided
9.
GRCh37:
Chr5:177956879-180696806
GRCh38:
Chr5:178529878-181269805
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
10.
GRCh37:
Chr5:179096737-180324169
GRCh38:
Chr5:179669736-180897169
See casesLikely pathogenic
(Nov 30, 2010)
no assertion criteria provided
11.
GRCh37:
Chr5:180008319-180273638
GRCh38:
Chr5:180581319-180846638
See casesBenign
(Oct 14, 2010)
no assertion criteria provided
12.
GRCh37:
Chr5:180030132
GRCh38:
Chr5:180603132
FLT4not providedBenign
(Jun 20, 2021)
criteria provided, single submitter
13.
GRCh37:
Chr5:180030278
GRCh38:
Chr5:180603278
FLT4E1336Knot providedBenign/Likely benign
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr5:180030279
GRCh38:
Chr5:180603279
FLT4not specifiedLikely benigncriteria provided, single submitter
15.
GRCh37:
Chr5:180030283
GRCh38:
Chr5:180603283
FLT4N1334SInborn genetic diseasesUncertain significance
(Aug 17, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr5:180030285
GRCh38:
Chr5:180603285
FLT4Y1333*not providedLikely pathogenic
(Sep 16, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr5:180030313
GRCh38:
Chr5:180603313
FLT4R1324Lnot specified, not providedBenign
(Jan 19, 2021)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr5:180030313
GRCh38:
Chr5:180603313
FLT4R1324Pnot specifiedLikely benigncriteria provided, single submitter
19.
GRCh37:
Chr5:180030322
GRCh38:
Chr5:180603322
FLT4R1321Qnot specified, not providedBenign/Likely benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr5:180030323
GRCh38:
Chr5:180603323
FLT4R1321WInborn genetic diseasesUncertain significance
(Aug 8, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr5:180030325
GRCh38:
Chr5:180603325
FLT4R1320Qnot specified, not providedBenign
(Sep 13, 2022)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr5:180030376
GRCh38:
Chr5:180603376
FLT4G1303Anot provided, not specifiedBenign/Likely benign
(Dec 8, 2020)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr5:180030391
GRCh38:
Chr5:180603391
FLT4not specifiedUncertain significance
(Feb 15, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr5:180035347
GRCh38:
Chr5:180608347
FLT4not providedBenign
(Jun 21, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr5:180035504
GRCh38:
Chr5:180608504
FLT4not providedBenign
(Jun 18, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr5:180035792
GRCh38:
Chr5:180608792
FLT4not providedBenign
(Jun 19, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr5:180035975
GRCh38:
Chr5:180608975
FLT4G1296Snot providedLikely benign
(Jul 15, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr5:180035994
GRCh38:
Chr5:180608994
FLT4not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
29.
GRCh37:
Chr5:180035999
GRCh38:
Chr5:180608999
FLT4E1288Qnot providedUncertain significance
(Apr 12, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr5:180036037
GRCh38:
Chr5:180609037
FLT4S1275Tnot providedUncertain significance
(Sep 13, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr5:180036040
GRCh38:
Chr5:180609040
FLT4D1274VHereditary lymphedema type ILikely pathogenic
(Oct 19, 2019)
criteria provided, single submitter
32.
GRCh37:
Chr5:180036239
GRCh38:
Chr5:180609239
FLT4not providedBenign
(Nov 11, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr5:180036318
GRCh38:
Chr5:180609318
FLT4not providedBenign
(Nov 11, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr5:180036871
GRCh38:
Chr5:180609871
FLT4not specified, not providedBenign
(Nov 11, 2018)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr5:180036928
GRCh38:
Chr5:180609928
FLT4P1262SInborn genetic diseasesUncertain significance
(Jan 4, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr5:180036934
GRCh38:
Chr5:180609934
FLT4M1260VInborn genetic diseasesUncertain significance
(May 27, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr5:180036959
GRCh38:
Chr5:180609959
FLT4R1251SInborn genetic diseasesUncertain significance
(Aug 17, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr5:180037317
GRCh38:
Chr5:180610317
FLT4not providedBenign
(Nov 11, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr5:180038248-180038249
GRCh38:
Chr5:180611248-180611249
FLT4not providedBenign
(Jun 18, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr5:180038336
GRCh38:
Chr5:180611336
FLT4not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
41.
GRCh37:
Chr5:180038407
GRCh38:
Chr5:180611407
FLT4T1204AHereditary lymphedema type IUncertain significance
(Aug 29, 2019)
criteria provided, single submitter
42.
GRCh37:
Chr5:180038443
GRCh38:
Chr5:180611443
FLT4Q1192*Congenital heart defects, multiple types, 7Pathogenic
(Feb 18, 2020)
no assertion criteria provided
43.
GRCh37:
Chr5:180038471
GRCh38:
Chr5:180611471
FLT4E1182DInborn genetic diseasesUncertain significance
(Jun 30, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr5:180038545
GRCh38:
Chr5:180611545
FLT4not providedBenign
(Jun 18, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr5:180038679-180038680
GRCh38:
Chr5:180611679-180611680
FLT4not providedBenign
(Nov 11, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr5:180038696
GRCh38:
Chr5:180611696
FLT4not providedBenign
(Nov 11, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr5:180038711
GRCh38:
Chr5:180611711
FLT4not providedBenign
(Jun 20, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr5:180039187
GRCh38:
Chr5:180612187
FLT4not providedBenign
(Nov 11, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr5:180039485
GRCh38:
Chr5:180612485
FLT4not specifiedLikely benigncriteria provided, single submitter
50.
GRCh37:
Chr5:180039583
GRCh38:
Chr5:180612583
FLT4G1154Rnot providedBenign/Likely benign
(Oct 25, 2020)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr5:180039606
GRCh38:
Chr5:180612606
FLT4R1146Hnot specified, not providedBenign
(Jun 9, 2021)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr5:180039607
GRCh38:
Chr5:180612607
FLT4R1146Gnot providedUncertain significance
(Apr 8, 2020)
criteria provided, single submitter
53.
GRCh37:
Chr5:180040032
GRCh38:
Chr5:180613032
FLT4P1137LHereditary lymphedema type ILikely pathogenic
(Feb 19, 2019)
criteria provided, single submitter
54.
GRCh37:
Chr5:180040051
GRCh38:
Chr5:180613051
FLT4G1131Rnot providedLikely pathogenic
(Feb 21, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr5:180040051
GRCh38:
Chr5:180613051
FLT4G1131SInborn genetic diseasesLikely pathogenic
(Mar 22, 2017)
criteria provided, single submitter
56.
GRCh37:
Chr5:180040101
GRCh38:
Chr5:180613101
FLT4P1114LHereditary lymphedema type IPathogenic
(Jun 1, 2000)
no assertion criteria provided
57.
GRCh37:
Chr5:180040110
GRCh38:
Chr5:180613110
FLT4G1111EHereditary lymphedema type IPathogenic
(Nov 12, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr5:180040740
GRCh38:
Chr5:180613740
FLT4not providedBenign
(Jun 20, 2021)
criteria provided, single submitter
59.
GRCh37:
Chr5:180040918
GRCh38:
Chr5:180613918
FLT4not providedBenign
(Nov 11, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr5:180041001
GRCh38:
Chr5:180614001
FLT4not providedBenign
(Nov 11, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr5:180041008
GRCh38:
Chr5:180614008
FLT4not providedBenign
(Nov 11, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr5:180041074-180041076
GRCh38:
Chr5:180614074-180614076
FLT4F1108delnot providedPathogenic
(Jun 11, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr5:180041083
GRCh38:
Chr5:180614083
FLT4E1106KHereditary lymphedema type IPathogenic
(Jan 1, 2006)
no assertion criteria provided
64.
GRCh37:
Chr5:180041101
GRCh38:
Chr5:180614101
FLT4F1100Lnot providedUncertain significance
(Sep 30, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr5:180041137
GRCh38:
Chr5:180614137
FLT4D1088Nnot providedUncertain significance
(Feb 5, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr5:180041138
GRCh38:
Chr5:180614138
FLT4not providedLikely benign
(Apr 10, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr5:180041142
GRCh38:
Chr5:180614142
FLT4I1086THereditary lymphedema type IPathogenic
(Oct 1, 2006)
no assertion criteria provided
68.
GRCh37:
Chr5:180041152
GRCh38:
Chr5:180614152
FLT4P1083SHereditary lymphedema type IUncertain significance
(Feb 19, 2019)
criteria provided, single submitter
69.
GRCh37:
Chr5:180041157
GRCh38:
Chr5:180614157
FLT4M1081Rnot providedLikely pathogenic
(Jun 9, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr5:180041167
GRCh38:
Chr5:180614167
FLT4L1078Vnot providedUncertain significance
(Dec 28, 2020)
criteria provided, single submitter
71.
GRCh37:
Chr5:180041181-180041214
GRCh38:
Chr5:180614181-180614214
FLT4not providedBenign
(Sep 11, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr5:180041189
GRCh38:
Chr5:180614189
FLT4not providedUncertain significance
(Feb 22, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr5:180041189
GRCh38:
Chr5:180614189
FLT4not specifiedLikely benigncriteria provided, single submitter
74.
GRCh37:
Chr5:180041190
GRCh38:
Chr5:180614190
FLT4not specifiedLikely benigncriteria provided, single submitter
75.
GRCh37:
Chr5:180041200
GRCh38:
Chr5:180614200
FLT4not specifiedLikely benigncriteria provided, single submitter
76.
GRCh37:
Chr5:180041208
GRCh38:
Chr5:180614208
FLT4Congenital heart defects, multiple types, 7, not specified, not provided,
Hereditary lymphedema type I
Benign
(Aug 10, 2021)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr5:180041242
GRCh38:
Chr5:180614242
FLT4not providedBenign
(Nov 11, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr5:180041273-180041274
GRCh38:
Chr5:180614273-180614274
FLT4not providedBenign
(Jun 21, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr5:180041273-180041274
GRCh38:
Chr5:180614273-180614274
FLT4not providedBenign
(Jun 21, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr5:180041274
GRCh38:
Chr5:180614274
FLT4not providedBenign
(Nov 11, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr5:180041316
GRCh38:
Chr5:180614316
FLT4not providedBenign
(Nov 11, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr5:180041491
GRCh38:
Chr5:180614491
FLT4not providedBenign
(Nov 11, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr5:180043330
GRCh38:
Chr5:180616330
FLT4not provided, not specifiedBenign
(Jun 19, 2021)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr5:180043377
GRCh38:
Chr5:180616377
FLT4R1070LCongenital heart defects, multiple types, 7Uncertain significance
(Jun 24, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr5:180043378
GRCh38:
Chr5:180616378
FLT4R1070Cnot providedUncertain significance
(Dec 20, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr5:180043388
GRCh38:
Chr5:180616388
FLT4Congenital heart defects, multiple types, 7, Hereditary lymphedema type I, not provided,
not specified
Benign
(Aug 10, 2021)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr5:180043405
GRCh38:
Chr5:180616405
FLT4D1061Hnot providedUncertain significance
(Jun 21, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr5:180043407
GRCh38:
Chr5:180616407
FLT4R1060Pnot providedUncertain significance
(Jan 29, 2020)
criteria provided, single submitter
89.
GRCh37:
Chr5:180043411
GRCh38:
Chr5:180616411
FLT4A1059Pnot providedUncertain significance
(Nov 2, 2019)
criteria provided, single submitter
90.
GRCh37:
Chr5:180043414
GRCh38:
Chr5:180616414
FLT4L1058Vnot providedLikely pathogenic
(Sep 23, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr5:180043416
GRCh38:
Chr5:180616416
FLT4G1057Dnot providedLikely pathogenic
(Mar 15, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr5:180043439
GRCh38:
Chr5:180616439
FLT4not specified, not providedBenign
(Dec 11, 2020)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr5:180043455
GRCh38:
Chr5:180616455
FLT4L1044PHereditary lymphedema type IPathogenic
(Jun 1, 2000)
no assertion criteria provided
94.
GRCh37:
Chr5:180043464
GRCh38:
Chr5:180616464
FLT4R1041Qnot providedLikely pathogenic
(Apr 25, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr5:180043464
GRCh38:
Chr5:180616464
FLT4R1041PHereditary lymphedema type IPathogenic
(Jun 1, 2000)
no assertion criteria provided
96.
GRCh37:
Chr5:180043465
GRCh38:
Chr5:180616465
FLT4R1041Wnot provided, Hereditary lymphedema type ILikely pathogenic
(May 6, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr5:180043478
GRCh38:
Chr5:180616478
FLT4R1036Snot specifiedUncertain significance
(Jan 16, 2019)
criteria provided, single submitter
98.
GRCh37:
Chr5:180043482
GRCh38:
Chr5:180616482
FLT4H1035RHereditary lymphedema type IPathogenic
(Aug 1, 2000)
no assertion criteria provided
99.
GRCh37:
Chr5:180043731
GRCh38:
Chr5:180616731
FLT4not providedBenign
(Nov 11, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr5:180043920
GRCh38:
Chr5:180616920
FLT4E1026fsCarcinoma of colonUncertain significance
(May 7, 2014)
no assertion criteria provided
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