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Items: 1 to 100 of 512

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:
Chr5:172203801-173769972
GRCh38:
Chr5:172776798-174342969
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr5:172388094-174481668
GRCh38:
Chr5:172961091-175054665
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr5:172659107-172662315
GRCh38:
Chr5:173232104-173235312
NKX2-5Atrial septal defect 7Pathogenic
(Jul 9, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr5:172659276
GRCh38:
Chr5:173232273
NKX2-5Atrial septal defect 7Benign
(Oct 5, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr5:172659375
GRCh38:
Chr5:173232372
NKX2-5not providedLikely benign
(Jul 15, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr5:172659511
GRCh38:
Chr5:173232508
NKX2-5not provided, not specifiedBenign
(Jun 15, 2018)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr5:172659552-172672303
GRCh38:
Chr5:173232549-173245300
NKX2-5Atrial septal defect 7Uncertain significance
(Apr 18, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr5:172659578
GRCh38:
Chr5:173232575
NKX2-5Cardiovascular phenotype, not provided, Atrial septal defect 7
Likely benign
(Dec 9, 2021)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr5:172659579
GRCh38:
Chr5:173232576
NKX2-5A323GAtrial septal defect 7Uncertain significance
(Jul 28, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr5:172659586
GRCh38:
Chr5:173232583
NKX2-5I321VInborn genetic diseasesUncertain significance
(Sep 9, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr5:172659590
GRCh38:
Chr5:173232587
NKX2-5Cardiovascular phenotype, Atrial septal defect 7Likely benign
(Sep 12, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr5:172659591
GRCh38:
Chr5:173232588
NKX2-5H319RCardiovascular phenotype, not providedUncertain significance
(Oct 1, 2018)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr5:172659594-172659595
GRCh38:
Chr5:173232591-173232592
NKX2-5L318AAtrial septal defect 7Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr5:172659597
GRCh38:
Chr5:173232594
NKX2-5T317MAtrial septal defect 7Uncertain significance
(Sep 15, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr5:172659602
GRCh38:
Chr5:173232599
NKX2-5Cardiovascular phenotypeLikely benign
(May 24, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr5:172659604
GRCh38:
Chr5:173232601
NKX2-5V315LAtrial septal defect 7Conflicting interpretations of pathogenicity
(Jul 2, 2022)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr5:172659606
GRCh38:
Chr5:173232603
NKX2-5G314EAtrial septal defect 7Uncertain significance
(Sep 7, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr5:172659607
GRCh38:
Chr5:173232604
NKX2-5G314*Atrial septal defect 7Uncertain significance
(Aug 9, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr5:172659608
GRCh38:
Chr5:173232605
NKX2-5Cardiovascular phenotype, Atrial septal defect 7Likely benign
(Jul 29, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr5:172659609
GRCh38:
Chr5:173232606
NKX2-5S313Lnot providedUncertain significance
(Jan 7, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr5:172659615
GRCh38:
Chr5:173232612
NKX2-5S311NAtrial septal defect 7, Cardiovascular phenotypeUncertain significance
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr5:172659619
GRCh38:
Chr5:173232616
NKX2-5Q310*not providedUncertain significance
(May 13, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr5:172659621
GRCh38:
Chr5:173232618
NKX2-5P309LAtrial septal defect 7Uncertain significance
(Sep 3, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr5:172659625
GRCh38:
Chr5:173232622
NKX2-5I308VAtrial septal defect 7Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr5:172659626
GRCh38:
Chr5:173232623
NKX2-5Atrial septal defect 7, Cardiovascular phenotypeLikely benign
(Oct 7, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr5:172659632
GRCh38:
Chr5:173232629
NKX2-5Atrial septal defect 7Likely benign
(Jun 16, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr5:172659640
GRCh38:
Chr5:173232637
NKX2-5V303Fnot provided, Atrial septal defect 7Uncertain significance
(Mar 23, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr5:172659641
GRCh38:
Chr5:173232638
NKX2-5Atrial septal defect 7, Cardiovascular phenotypeLikely benign
(Sep 28, 2018)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr5:172659647
GRCh38:
Chr5:173232644
NKX2-5L300FCardiovascular phenotypeUncertain significance
(Jan 6, 2020)
criteria provided, single submitter
34.
GRCh37:
Chr5:172659648
GRCh38:
Chr5:173232645
NKX2-5L300SCardiovascular phenotypeUncertain significance
(Sep 18, 2019)
criteria provided, single submitter
35.
GRCh37:
Chr5:172659649
GRCh38:
Chr5:173232646
NKX2-5Atrial septal defect 7, not providedLikely benign
(Feb 5, 2020)
criteria provided, single submitter
36.
GRCh37:
Chr5:172659650
GRCh38:
Chr5:173232647
NKX2-5not provided, Atrial septal defect 7Likely benign
(Jan 4, 2017)
criteria provided, single submitter
37.
GRCh37:
Chr5:172659651
GRCh38:
Chr5:173232648
NKX2-5D299GAtrioventricular septal defect, somatic, Atrial septal defect 7Pathogenic
(Sep 1, 2004)
no assertion criteria provided
38.
GRCh37:
Chr5:172659653
GRCh38:
Chr5:173232650
NKX2-5Atrial septal defect 7Likely benign
(Sep 18, 2020)
criteria provided, single submitter
39.
GRCh37:
Chr5:172659654
GRCh38:
Chr5:173232651
NKX2-5G298Enot provided, Ventricular septal defect 3, Hypothyroidism, congenital, nongoitrous, 5,
Tetralogy of Fallot, Hypoplastic left heart syndrome 2, Conotruncal heart malformations,
Atrial septal defect 7
Uncertain significance
(Aug 20, 2021)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr5:172659655-172659656
GRCh38:
Chr5:173232652-173232653
NKX2-5G298fsConotruncal heart malformations, Ventricular septal defect 3, Hypoplastic left heart syndrome 2,
Hypothyroidism, congenital, nongoitrous, 5, Tetralogy of Fallot, Atrial septal defect 7,
Atrial septal defect 7, Inborn genetic diseases, not specified
Uncertain significance
(Sep 22, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr5:172659658
GRCh38:
Chr5:173232655
NKX2-5V297FAtrial septal defect 7, Cardiovascular phenotypeUncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr5:172659660
GRCh38:
Chr5:173232657
NKX2-5G296DCardiovascular phenotypeUncertain significance
(Nov 18, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr5:172659661
GRCh38:
Chr5:173232658
NKX2-5G296CAtrial septal defect 7Uncertain significance
(Aug 9, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr5:172659661
GRCh38:
Chr5:173232658
NKX2-5G296Snot provided, Atrial septal defect 7Uncertain significance
(Jul 15, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr5:172659662
GRCh38:
Chr5:173232659
NKX2-5Atrial septal defect 7Likely benign
(Apr 9, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr5:172659662
GRCh38:
Chr5:173232659
NKX2-5F295LAtrial septal defect 7Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr5:172659662
GRCh38:
Chr5:173232659
NKX2-5F295LAtrial septal defect 7, Cardiovascular phenotype, Atrial septal defect 7,
Conotruncal heart malformations, Tetralogy of Fallot, Hypothyroidism, congenital, nongoitrous, 5,
Ventricular septal defect 3, Hypoplastic left heart syndrome 2
Uncertain significance
(Jul 14, 2022)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr5:172659665
GRCh38:
Chr5:173232662
NKX2-5Cardiovascular phenotype, Atrial septal defect 7Likely benign
(May 5, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr5:172659671
GRCh38:
Chr5:173232668
NKX2-5Cardiovascular phenotypeLikely benign
(May 19, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr5:172659674-172659676
GRCh38:
Chr5:173232671-173232673
NKX2-5N291delCardiovascular phenotype, Atrial septal defect 7, Hypoplastic left heart syndrome 2,
Ventricular septal defect 3, Hypothyroidism, congenital, nongoitrous, 5, Atrial septal defect 7,
Tetralogy of Fallot, Conotruncal heart malformations
Uncertain significance
(Nov 2, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr5:172659675
GRCh38:
Chr5:173232672
NKX2-5N291TCardiovascular phenotype, Atrial septal defect 7Uncertain significance
(Aug 28, 2021)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr5:172659678
GRCh38:
Chr5:173232675
NKX2-5N290SCardiovascular phenotype, Atrial septal defect 7, not provided
Uncertain significance
(Jun 30, 2021)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr5:172659680
GRCh38:
Chr5:173232677
NKX2-5N289Knot providedUncertain significance
(Mar 8, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr5:172659686
GRCh38:
Chr5:173232683
NKX2-5Cardiovascular phenotype, not specified, Atrial septal defect 7
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
55.
GRCh37:
Chr5:172659689
GRCh38:
Chr5:173232686
NKX2-5Atrial septal defect 7Likely benign
(Jun 19, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr5:172659689
GRCh38:
Chr5:173232686
NKX2-5Atrial septal defect 7Likely benign
(Apr 11, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr5:172659690
GRCh38:
Chr5:173232687
NKX2-5A286VCardiovascular phenotypeUncertain significance
(Jun 9, 2020)
criteria provided, single submitter
58.
GRCh37:
Chr5:172659693
GRCh38:
Chr5:173232690
NKX2-5T285Inot providedUncertain significance
(Feb 4, 2020)
criteria provided, single submitter
59.
GRCh37:
Chr5:172659695
GRCh38:
Chr5:173232692
NKX2-5Atrial septal defect 7, Cardiovascular phenotype, Atrial septal defect 7,
Conotruncal heart malformations, Tetralogy of Fallot, Hypothyroidism, congenital, nongoitrous, 5,
Ventricular septal defect 3, Hypoplastic left heart syndrome 2, not provided
Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr5:172659696
GRCh38:
Chr5:173232693
NKX2-5A284VAtrial septal defect 7Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr5:172659697-172659698
GRCh38:
Chr5:173232694-173232695
NKX2-5Atrial septal defect 7Uncertain significance
(Aug 4, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr5:172659698
GRCh38:
Chr5:173232695
NKX2-5Atrial septal defect 7Likely benign
(Aug 12, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr5:172659699
GRCh38:
Chr5:173232696
NKX2-5P283RAtrial septal defect 7Uncertain significance
(May 5, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr5:172659699
GRCh38:
Chr5:173232696
NKX2-5P283QCardiovascular phenotype, Ventricular septal defect 3, Hypoplastic left heart syndrome 2,
Conotruncal heart malformations, Atrial septal defect 7, Tetralogy of Fallot,
Hypothyroidism, congenital, nongoitrous, 5, not provided, Atrial septal defect 7
Uncertain significance
(Jul 21, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr5:172659700
GRCh38:
Chr5:173232697
NKX2-5P283AAtrial septal defect 7Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr5:172659705
GRCh38:
Chr5:173232702
NKX2-5A281VAtrial septal defect 7Uncertain significance
(Sep 13, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr5:172659705
GRCh38:
Chr5:173232702
NKX2-5A281EAtrial septal defect 7, Conotruncal heart malformations, Hypothyroidism, congenital, nongoitrous, 5,
Tetralogy of Fallot, Ventricular septal defect 3, Hypoplastic left heart syndrome 2,
Cardiovascular phenotype, Atrial septal defect 7
Uncertain significance
(Oct 20, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr5:172659706
GRCh38:
Chr5:173232703
NKX2-5A281TAtrial septal defect 7Uncertain significance
(Mar 6, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr5:172659708
GRCh38:
Chr5:173232705
NKX2-5P280LCardiovascular phenotype, Atrial septal defect 7Uncertain significance
(Jun 27, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr5:172659710
GRCh38:
Chr5:173232707
NKX2-5Atrial septal defect 7Likely benign
(Jul 19, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr5:172659714
GRCh38:
Chr5:173232711
NKX2-5P278LAtrial septal defect 7Uncertain significance
(Apr 24, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr5:172659718
GRCh38:
Chr5:173232715
NKX2-5G277RCardiovascular phenotype, Atrial septal defect 7Uncertain significance
(Aug 24, 2021)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr5:172659718
GRCh38:
Chr5:173232715
NKX2-5G277WAtrial septal defect 7Uncertain significance
(Oct 10, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr5:172659719
GRCh38:
Chr5:173232716
NKX2-5Atrial septal defect 7Likely benign
(Oct 23, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr5:172659719
GRCh38:
Chr5:173232716
NKX2-5Atrial septal defect 7Likely benign
(Jul 29, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr5:172659720
GRCh38:
Chr5:173232717
NKX2-5A276GCardiovascular phenotype, not provided, Atrial septal defect 7
Uncertain significance
(Jan 18, 2023)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr5:172659721
GRCh38:
Chr5:173232718
NKX2-5A276TAtrial septal defect 7Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr5:172659723
GRCh38:
Chr5:173232720
NKX2-5P275LAtrial septal defect 7, Ventricular septal defect 3, Atrial septal defect 7
Uncertain significance
(May 15, 2018)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr5:172659724
GRCh38:
Chr5:173232721
NKX2-5P275SAtrial septal defect 7Uncertain significance
(Sep 24, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr5:172659724
GRCh38:
Chr5:173232721
NKX2-5P275TCardiovascular phenotype, Atrial septal defect 7, Conotruncal heart malformations,
Ventricular septal defect 3, Hypoplastic left heart syndrome 2, Tetralogy of Fallot,
Hypothyroidism, congenital, nongoitrous, 5, not provided, Atrial septal defect 7
Conflicting interpretations of pathogenicity
(Sep 14, 2021)
criteria provided, conflicting interpretations
81.
GRCh37:
Chr5:172659725
GRCh38:
Chr5:173232722
NKX2-5Y274*Atrial septal defect 7Uncertain significance
(Oct 19, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr5:172659728
GRCh38:
Chr5:173232725
NKX2-5Atrial septal defect 7Likely benign
(Feb 22, 2019)
criteria provided, single submitter
83.
GRCh37:
Chr5:172659730
GRCh38:
Chr5:173232727
NKX2-5A273PCardiovascular phenotypeUncertain significance
(Dec 6, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr5:172659731
GRCh38:
Chr5:173232728
NKX2-5Atrial septal defect 7Likely benign
(May 15, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr5:172659731
GRCh38:
Chr5:173232728
NKX2-5Cardiovascular phenotypeLikely benign
(Oct 5, 2019)
criteria provided, single submitter
86.
GRCh37:
Chr5:172659738
GRCh38:
Chr5:173232735
NKX2-5C270YCardiovascular phenotype, Atrial septal defect 7Conflicting interpretations of pathogenicity
(Oct 25, 2022)
criteria provided, conflicting interpretations
87.
GRCh37:
Chr5:172659741
GRCh38:
Chr5:173232738
NKX2-5S269NCardiovascular phenotypeUncertain significance
(May 13, 2020)
criteria provided, single submitter
88.
GRCh37:
Chr5:172659743
GRCh38:
Chr5:173232740
NKX2-5Y268*Atrial septal defect 7Uncertain significance
(Sep 26, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr5:172659748
GRCh38:
Chr5:173232745
NKX2-5G267RAtrial septal defect 7, Cardiovascular phenotypeUncertain significance
(May 20, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr5:172659748
GRCh38:
Chr5:173232745
NKX2-5G267SAtrial septal defect 7Uncertain significance
(Aug 26, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr5:172659760
GRCh38:
Chr5:173232757
NKX2-5A263PCardiovascular phenotypeUncertain significance
(Aug 17, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr5:172659762-172659763
GRCh38:
Chr5:173232759-173232760
NKX2-5A262fsAtrial septal defect 7Pathogenic
(Aug 26, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr5:172659763
GRCh38:
Chr5:173232760
NKX2-5A262SCardiovascular phenotypeUncertain significance
(Feb 1, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr5:172659764
GRCh38:
Chr5:173232761
NKX2-5A262fsAtrial septal defect 7, Tetralogy of Fallot, Conotruncal heart malformations,
Hypothyroidism, congenital, nongoitrous, 5, Ventricular septal defect 3, Hypoplastic left heart syndrome 2,
Atrial septal defect 7, Malformation of the heart and great vessels, not provided
Pathogenic/Likely pathogenic
(Jul 18, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr5:172659767
GRCh38:
Chr5:173232764
NKX2-5Cardiovascular phenotypeLikely benign
(Oct 21, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr5:172659770
GRCh38:
Chr5:173232767
NKX2-5Y259*not providedPathogenic
(May 6, 2015)
criteria provided, single submitter
97.
GRCh37:
Chr5:172659771
GRCh38:
Chr5:173232768
NKX2-5Y259FAtrial septal defect 7Uncertain significance
(Aug 30, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr5:172659775
GRCh38:
Chr5:173232772
NKX2-5G258SAtrial septal defect 7Uncertain significance
(Dec 21, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr5:172659776
GRCh38:
Chr5:173232773
NKX2-5not specified, Atrial septal defect 7, Cardiovascular phenotype
Likely benign
(Sep 28, 2022)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr5:172659777
GRCh38:
Chr5:173232774
NKX2-5P257LCardiovascular phenotypeUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
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