NSD1[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 581181.	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 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
Select item 1443652.	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 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
Select item 1462333.	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 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
Select item 1527314.	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3 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
Select item 1536875.	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1 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
Select item 581226.	GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3 GRCh37: Chr5:175278050-177792050 GRCh38: Chr5:175851047-178365049	ARL10, B4GALT7, CDHR2, CLTB, COL23A1, CPLX2, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM153A, FAM153B, FAM193B, FGFR4, GMCL2, GPRIN1, GRK6, HIGD2A, HK3, HNRNPAB, KIAA1191, LINC01574, LMAN2, LOC100128340, LOC100507387, LOC100996385, LOC105980006, LOC105980008, LOC109279841, LOC110121241, LOC110121284, LOC114004391, LOC116158533, LOC116158534, LOC116158535, LOC121099715, LOC121099716, LOC121099717, LOC121099718, LOC121740633, LOC121740634, LOC123575628, LOC123575629, LOC123575630, LOC123575631, LOC126807615, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC126807621, MIR1271, MIR4281, MXD3, N4BP3, NHP2, NOP16, NSD1, PDLIM7, PFN3, PHYKPL, PRELID1, PROP1, PRR7, PRR7-AS1, RAB24, RGS14, RMND5B, RNF44, SIMC1, SLC34A1, SNCB, THOC3, THOC3-AS1, TMED9, TSPAN17, UIMC1, UNC5A, ZNF346		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 581237.	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3 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
Select item 1542978.	GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1 GRCh37: Chr5:175416095-177436413 GRCh38: Chr5:175989092-178009412	ARL10, B4GALT7, CDHR2, CLTB, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM153A, FAM153B, FAM193B, FGFR4, GPRIN1, GRK6, HIGD2A, HK3, KIAA1191, LINC01574, LMAN2, LOC100128340, LOC100507387, LOC100996385, LOC105980006, LOC109279841, LOC110121241, LOC110121284, LOC114004391, LOC116158533, LOC116158534, LOC121099715, LOC121099716, LOC121099717, LOC121099718, LOC121740633, LOC123575628, LOC123575629, LOC123575630, LOC123575631, LOC126807615, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC126807621, MIR1271, MIR4281, MXD3, NOP16, NSD1, PDLIM7, PFN3, PRELID1, PROP1, PRR7, PRR7-AS1, RAB24, RGS14, RNF44, SIMC1, SLC34A1, SNCB, TMED9, TSPAN17, UIMC1, UNC5A, ZNF346		See cases	Pathogenic (Mar 18, 2014)	no assertion criteria provided
Select item 593009.	GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1 GRCh37: Chr5:175470479-177422760 GRCh38: Chr5:176043476-177995759	ARL10, B4GALT7, CDHR2, CLTB, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM153A, FAM153B, FAM193B, FGFR4, GPRIN1, GRK6, HIGD2A, HK3, KIAA1191, LINC01574, LMAN2, LOC100128340, LOC100507387, LOC100996385, LOC105980006, LOC109279841, LOC110121241, LOC110121284, LOC114004391, LOC116158533, LOC116158534, LOC121099715, LOC121099716, LOC121099717, LOC121099718, LOC121740633, LOC123575628, LOC123575629, LOC123575630, LOC123575631, LOC126807615, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC126807621, MIR1271, MIR4281, MXD3, NOP16, NSD1, PDLIM7, PFN3, PRELID1, PROP1, PRR7, PRR7-AS1, RAB24, RGS14, RNF44, SIMC1, SLC34A1, SNCB, TMED9, TSPAN17, UIMC1, UNC5A, ZNF346		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5930110.	GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1 GRCh37: Chr5:175542260-177073634 GRCh38: Chr5:176115257-177646633	ARL10, B4GALT7, CDHR2, CLTB, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM153B, FAM193B, FGFR4, GPRIN1, GRK6, HIGD2A, HK3, KIAA1191, LINC01574, LMAN2, LOC100507387, LOC109279841, LOC110121241, LOC110121284, LOC114004391, LOC116158533, LOC116158534, LOC121099715, LOC121099716, LOC121099717, LOC121099718, LOC121740633, LOC123575628, LOC123575629, LOC123575630, LOC123575631, LOC126807615, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC126807621, MIR1271, MIR4281, MXD3, NOP16, NSD1, PDLIM7, PFN3, PRELID1, PRR7, PRR7-AS1, RAB24, RGS14, RNF44, SIMC1, SLC34A1, SNCB, TMED9, TSPAN17, UIMC1, UNC5A, ZNF346		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 15444311.	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1 GRCh37: Chr5:175559343-177422760 GRCh38: Chr5:176132340-177995759	ARL10, B4GALT7, CDHR2, CLTB, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM153A, FAM193B, FGFR4, GPRIN1, GRK6, HIGD2A, HK3, KIAA1191, LINC01574, LMAN2, LOC100128340, LOC109279841, LOC110121241, LOC110121284, LOC114004391, LOC116158533, LOC116158534, LOC121099715, LOC121099716, LOC121099717, LOC121099718, LOC121740633, LOC123575628, LOC123575629, LOC123575630, LOC123575631, LOC126807615, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC126807621, MIR1271, MIR4281, MXD3, NOP16, NSD1, PDLIM7, PFN3, PRELID1, PROP1, PRR7, PRR7-AS1, RAB24, RGS14, RNF44, SIMC1, SLC34A1, SNCB, TMED9, TSPAN17, UIMC1, UNC5A, ZNF346		See cases	Pathogenic (Aug 27, 2010)	no assertion criteria provided
Select item 5705112.	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177586960)x1 GRCh37: Chr5:175559343-177013961 GRCh38: Chr5:176132340-177586960	ARL10, CDHR2, CLTB, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM193B, FGFR4, GPRIN1, GRK6, HIGD2A, HK3, KIAA1191, LINC01574, LMAN2, LOC109279841, LOC110121241, LOC110121284, LOC114004391, LOC116158533, LOC116158534, LOC121099715, LOC121099716, LOC121099717, LOC121099718, LOC121740633, LOC123575628, LOC123575629, LOC123575630, LOC123575631, LOC126807615, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, MIR1271, MIR4281, MXD3, NOP16, NSD1, PDLIM7, PFN3, PRELID1, PRR7, PRR7-AS1, RAB24, RGS14, RNF44, SIMC1, SLC34A1, SNCB, TSPAN17, UIMC1, UNC5A, ZNF346		See cases	Pathogenic (Aug 12, 2011)	criteria provided, multiple submitters, no conflicts
Select item 15539613.	GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1 GRCh37: Chr5:175570677-177436413 GRCh38: Chr5:176143674-178009412	ARL10, B4GALT7, CDHR2, CLTB, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM153A, FAM193B, FGFR4, GPRIN1, GRK6, HIGD2A, HK3, KIAA1191, LINC01574, LMAN2, LOC100128340, LOC109279841, LOC110121241, LOC110121284, LOC114004391, LOC116158533, LOC116158534, LOC121099715, LOC121099716, LOC121099717, LOC121099718, LOC121740633, LOC123575629, LOC123575630, LOC123575631, LOC126807615, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC126807621, MIR1271, MIR4281, MXD3, NOP16, NSD1, PDLIM7, PFN3, PRELID1, PROP1, PRR7, PRR7-AS1, RAB24, RGS14, RNF44, SIMC1, SLC34A1, SNCB, TMED9, TSPAN17, UIMC1, UNC5A, ZNF346		See cases	Pathogenic (Jun 18, 2013)	no assertion criteria provided
Select item 5963414.	GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3 GRCh37: Chr5:175576602-177143402 GRCh38: Chr5:176149599-177716401	CDHR2, ARL10, B4GALT7, CLTB, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM153A, FAM193B, FGFR4, GPRIN1, GRK6, HIGD2A, HK3, KIAA1191, LINC01574, LMAN2, LOC109279841, LOC110121241, LOC110121284, LOC114004391, LOC116158533, LOC116158534, LOC121099715, LOC121099716, LOC121099717, LOC121099718, LOC121740633, LOC123575629, LOC123575630, LOC123575631, LOC126807615, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC126807621, MIR1271, MIR4281, MXD3, NOP16, NSD1, PDLIM7, PFN3, PRELID1, PRR7, PRR7-AS1, RAB24, RGS14, RNF44, SIMC1, SLC34A1, SNCB, TMED9, TSPAN17, UIMC1, UNC5A, ZNF346		See cases	Pathogenic (Aug 11, 2011)	no assertion criteria provided
Select item 5930315.	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1 GRCh37: Chr5:175579076-177073634 GRCh38: Chr5:176152073-177646633	ARL10, B4GALT7, CDHR2, CLTB, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM193B, FGFR4, GPRIN1, GRK6, HIGD2A, HK3, KIAA1191, LINC01574, LMAN2, LOC109279841, LOC110121241, LOC110121284, LOC114004391, LOC116158533, LOC116158534, LOC121099715, LOC121099716, LOC121099717, LOC121099718, LOC121740633, LOC123575629, LOC123575630, LOC123575631, LOC126807615, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC126807621, MIR1271, MIR4281, MXD3, NOP16, NSD1, PDLIM7, PFN3, PRELID1, PRR7, PRR7-AS1, RAB24, RGS14, RNF44, SIMC1, SLC34A1, SNCB, TMED9, TSPAN17, UIMC1, UNC5A, ZNF346		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5930216.	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1 GRCh37: Chr5:175579076-177413214 GRCh38: Chr5:176152073-177986213	ARL10, B4GALT7, CDHR2, CLTB, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM153A, FAM193B, FGFR4, GPRIN1, GRK6, HIGD2A, HK3, KIAA1191, LINC01574, LMAN2, LOC100128340, LOC109279841, LOC110121241, LOC110121284, LOC114004391, LOC116158533, LOC116158534, LOC121099715, LOC121099716, LOC121099717, LOC121099718, LOC121740633, LOC123575629, LOC123575630, LOC123575631, LOC126807615, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC126807621, MIR1271, MIR4281, MXD3, NOP16, NSD1, PDLIM7, PFN3, PRELID1, PRR7, PRR7-AS1, RAB24, RGS14, RNF44, SIMC1, SLC34A1, SNCB, TMED9, TSPAN17, UIMC1, UNC5A, ZNF346		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 15377217.	GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1 GRCh37: Chr5:175718841-178089700 GRCh38: Chr5:176291838-178662699	ARL10, B4GALT7, CDHR2, CLK4, CLTB, COL23A1, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM153A, FAM193B, FGFR4, GMCL2, GPRIN1, GRK6, HIGD2A, HK3, HNRNPAB, KIAA1191, LINC01574, LMAN2, LOC100128340, LOC105980008, LOC109279841, LOC110121241, LOC110121284, LOC114004391, LOC116158533, LOC116158534, LOC116158535, LOC121099715, LOC121099716, LOC121099717, LOC121099718, LOC121740633, LOC121740634, LOC123575630, LOC123575631, LOC123575632, LOC123575633, LOC126807615, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC126807621, LOC126807622, LOC126807623, MIR1271, MIR4281, MXD3, N4BP3, NHP2, NOP16, NSD1, PDLIM7, PFN3, PHYKPL, PRELID1, PROP1, PRR7, PRR7-AS1, RAB24, RGS14, RMND5B, RNF44, SIMC1, SLC34A1, SNCB, TMED9, TSPAN17, UIMC1, UNC5A, ZNF346		See cases	Pathogenic (Sep 3, 2013)	no assertion criteria provided
Select item 170746018.	Single allele GRCh38: Chr5:176449583-177376826	CDHR2, EIF4E1B, FAF2, FGFR4, GPRIN1, HK3, LINC01574, LMAN2, LOC109279841, LOC110121241, LOC114004391, LOC121099715, LOC121099716, LOC121740633, LOC123575630, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, MIR4281, MXD3, NSD1, PRELID1, RAB24, RGS14, RNF44, SNCB, TSPAN17, UIMC1, UNC5A, ZNF346		5q35 microduplication syndrome	Pathogenic (May 25, 2021)	criteria provided, single submitter
Select item 15447119.	GRCh38/hg38 5q35.2-35.3(chr5:176517339-177709289)x1 GRCh37: Chr5:175944340-177136290 GRCh38: Chr5:176517339-177709289	B4GALT7, CDHR2, DBN1, DDX41, DOK3, EIF4E1B, F12, FAM153A, FAM193B, FGFR4, GPRIN1, GRK6, HK3, LINC01574, LMAN2, LOC109279841, LOC110121241, LOC110121284, LOC114004391, LOC116158533, LOC116158534, LOC121099715, LOC121099716, LOC121099717, LOC121099718, LOC121740633, LOC123575630, LOC123575631, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC126807621, MIR4281, MXD3, NSD1, PDLIM7, PFN3, PRELID1, PRR7, PRR7-AS1, RAB24, RGS14, RNF44, SLC34A1, SNCB, TMED9, TSPAN17, UIMC1, UNC5A, ZNF346		See cases	Pathogenic (Jan 5, 2011)	no assertion criteria provided
Select item 15458120.	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1 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
Select item 15281721.	GRCh38/hg38 5q35.3(chr5:177118445-177374609)x3 GRCh37: Chr5:176545446-176801610 GRCh38: Chr5:177118445-177374609	LMAN2, LOC121099716, LOC121740633, LOC126807619, LOC126807620, MXD3, NSD1, PRELID1, RAB24, RGS14		See cases	Likely pathogenic (Dec 10, 2012)	no assertion criteria provided
Select item 80217922.	NM_172349.5(NSD1):c.-151+112_-151+113del GRCh37: Chr5:176560266-176560267 GRCh38: Chr5:177133265-177133266	LOC121740633, NSD1		Sotos syndrome 1	Uncertain significance (May 28, 2019)	criteria provided, single submitter
Select item 123936623.	NM_022455.5(NSD1):c.-18+160T>C GRCh37: Chr5:176561113 GRCh38: Chr5:177134112	NSD1		not provided	Benign (May 1, 2020)	criteria provided, single submitter
Select item 121825324.	NM_022455.5(NSD1):c.-17-340C>T GRCh37: Chr5:176561748 GRCh38: Chr5:177134747	NSD1		not provided	Likely benign (Dec 21, 2018)	criteria provided, single submitter
Select item 119041225.	NM_022455.5(NSD1):c.-17-106A>G GRCh37: Chr5:176561982 GRCh38: Chr5:177134981	NSD1		not provided	Likely benign (Jan 13, 2019)	criteria provided, single submitter
Select item 45398726.	NC_000005.10:g.(?_177135084)_(177295479_?)del GRCh38: Chr5:177135084-177295479	LOC126807619, NSD1		Beckwith-Wiedemann syndrome	Pathogenic (Sep 7, 2017)	criteria provided, single submitter
Select item 65238927.	NC_000005.10:g.(?_177135094)_(177295469_?)del GRCh37: Chr5:176562095-176722470 GRCh38: Chr5:177135094-177295469	LOC126807619, NSD1		Sotos syndrome 1, Beckwith-Wiedemann syndrome	Pathogenic (Sep 10, 2020)	criteria provided, single submitter
Select item 21171528.	NM_022455.5(NSD1):c.-8G>A GRCh37: Chr5:176562097 GRCh38: Chr5:177135096	NSD1		Sotos syndrome 1, not specified	Conflicting interpretations of pathogenicity (Jul 15, 2021)	criteria provided, conflicting interpretations
Select item 136216029.	NM_022455.5(NSD1):c.19C>A (p.Leu7Ile) GRCh37: Chr5:176562123 GRCh38: Chr5:177135122	NSD1	L7I	Sotos syndrome 1	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 170807730.	NM_022455.5(NSD1):c.26G>T (p.Arg9Ile) GRCh37: Chr5:176562130 GRCh38: Chr5:177135129	NSD1	R9I	Sotos syndrome 1	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 65123931.	NM_022455.5(NSD1):c.29G>A (p.Arg10Lys) GRCh37: Chr5:176562133 GRCh38: Chr5:177135132	NSD1	R10K	Beckwith-Wiedemann syndrome, Sotos syndrome 1	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 37916732.	NM_022455.5(NSD1):c.34T>C (p.Cys12Arg) GRCh37: Chr5:176562138 GRCh38: Chr5:177135137	NSD1	C12R	Sotos syndrome 1, not specified	Conflicting interpretations of pathogenicity (Nov 3, 2021)	criteria provided, conflicting interpretations
Select item 71619333.	NM_022455.5(NSD1):c.39G>C (p.Leu13_Leu14=) GRCh37: Chr5:176562143 GRCh38: Chr5:177135142	NSD1		not provided	Likely benign (Sep 17, 2017)	criteria provided, single submitter
Select item 102826434.	NM_022455.5(NSD1):c.56C>T (p.Pro19Leu) GRCh37: Chr5:176562160 GRCh38: Chr5:177135159	NSD1	P19L	Sotos syndrome 1	Uncertain significance (Jun 21, 2019)	criteria provided, single submitter
Select item 140059735.	NM_022455.5(NSD1):c.58G>T (p.Val20Leu) GRCh37: Chr5:176562162 GRCh38: Chr5:177135161	NSD1	V20L	Sotos syndrome 1	Uncertain significance (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 25279236.	NM_022455.5(NSD1):c.72C>T (p.Ala24_Pro25=) GRCh37: Chr5:176562176 GRCh38: Chr5:177135175	NSD1	P2L	Inborn genetic diseases, not specified, not provided, Sotos syndrome 1	Conflicting interpretations of pathogenicity (Jul 15, 2021)	criteria provided, conflicting interpretations
Select item 118182037.	NM_022455.5(NSD1):c.91C>G (p.Pro31Ala) GRCh37: Chr5:176562195 GRCh38: Chr5:177135194	NSD1	P31A	not provided, Sotos syndrome 1	Likely benign (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 197259738.	NM_022455.5(NSD1):c.97G>A (p.Gly33Ser) GRCh37: Chr5:176562201 GRCh38: Chr5:177135200	NSD1	G33S	Sotos syndrome 1	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 130510439.	NM_022455.5(NSD1):c.105T>G (p.Gly35_Gln36=) GRCh37: Chr5:176562209 GRCh38: Chr5:177135208	NSD1		not provided	Uncertain significance (Apr 23, 2019)	criteria provided, single submitter
Select item 15925940.	NM_022455.5(NSD1):c.108A>G (p.Gln36_Ser37=) GRCh37: Chr5:176562212 GRCh38: Chr5:177135211	NSD1		Sotos syndrome 1	Uncertain significance (Feb 8, 2013)	criteria provided, single submitter
Select item 136215341.	NM_022455.5(NSD1):c.113A>G (p.Asn38Ser) GRCh37: Chr5:176562217 GRCh38: Chr5:177135216	NSD1	N38S	Sotos syndrome 1	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 58834142.	NM_022455.5(NSD1):c.140C>G (p.Thr47Ser) GRCh37: Chr5:176562244 GRCh38: Chr5:177135243	NSD1	T47S	Inborn genetic diseases	Uncertain significance (Feb 3, 2017)	criteria provided, single submitter
Select item 194556343.	NM_022455.5(NSD1):c.141T>C (p.Thr47_Met48=) GRCh37: Chr5:176562245 GRCh38: Chr5:177135244	NSD1		Sotos syndrome 1	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 15926544.	NM_022455.5(NSD1):c.142A>G (p.Met48Val) GRCh37: Chr5:176562246 GRCh38: Chr5:177135245	NSD1	M48V	Sotos syndrome 1	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 85989345.	NM_022455.5(NSD1):c.145C>T (p.Gln49Ter) GRCh37: Chr5:176562249 GRCh38: Chr5:177135248	NSD1	Q49*	Sotos syndrome 1	Uncertain significance (Sep 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 193973446.	NM_022455.5(NSD1):c.151T>C (p.Ser51Pro) GRCh37: Chr5:176562255 GRCh38: Chr5:177135254	NSD1	S51P	Sotos syndrome 1	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 16739147.	NM_022455.5(NSD1):c.153G>A (p.Ser51_Thr52=) GRCh37: Chr5:176562257 GRCh38: Chr5:177135256	NSD1		not provided	Uncertain significance (Jan 24, 2014)	criteria provided, single submitter
Select item 101220048.	NM_022455.5(NSD1):c.197dup (p.Ser67fs) GRCh37: Chr5:176562299-176562300 GRCh38: Chr5:177135298-177135299	NSD1	S67fs	Sotos syndrome 1	Likely pathogenic (Apr 2, 2020)	criteria provided, single submitter
Select item 39116749.	NM_022455.5(NSD1):c.198A>G (p.Pro66_Ser67=) GRCh37: Chr5:176562302 GRCh38: Chr5:177135301	NSD1		not specified	Likely benign (Nov 23, 2016)	criteria provided, single submitter
Select item 210404850.	NM_022455.5(NSD1):c.199T>A (p.Ser67Thr) GRCh37: Chr5:176562303 GRCh38: Chr5:177135302	NSD1	S67T	Sotos syndrome 1	Uncertain significance (Feb 27, 2022)	criteria provided, single submitter
Select item 57502451.	NM_022455.5(NSD1):c.207C>A (p.Tyr69Ter) GRCh37: Chr5:176562311 GRCh38: Chr5:177135310	NSD1	Y69*	Sotos syndrome 1, Beckwith-Wiedemann syndrome	Pathogenic (Apr 13, 2018)	criteria provided, single submitter
Select item 137221752.	NM_022455.5(NSD1):c.209T>G (p.Ile70Ser) GRCh37: Chr5:176562313 GRCh38: Chr5:177135312	NSD1	I70S	Sotos syndrome 1	Uncertain significance (Sep 25, 2022)	criteria provided, single submitter
Select item 161891353.	NM_022455.5(NSD1):c.222A>G (p.Arg74_Leu75=) GRCh37: Chr5:176562326 GRCh38: Chr5:177135325	NSD1		Sotos syndrome 1	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 45404554.	NM_022455.5(NSD1):c.241A>G (p.Met81Val) GRCh37: Chr5:176562345 GRCh38: Chr5:177135344	NSD1	M81V	Sotos syndrome 1, Beckwith-Wiedemann syndrome, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Jul 28, 2022)	criteria provided, conflicting interpretations
Select item 228314255.	NM_022455.5(NSD1):c.242T>C (p.Met81Thr) GRCh37: Chr5:176562346 GRCh38: Chr5:177135345	NSD1	M81T	Inborn genetic diseases	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 28298156.	NM_022455.5(NSD1):c.243G>C (p.Met81Ile) GRCh37: Chr5:176562347 GRCh38: Chr5:177135346	NSD1	M81I	not provided, Sotos syndrome 1	Uncertain significance (Jul 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 211166657.	NM_022455.5(NSD1):c.252A>G (p.Val84_Glu85=) GRCh37: Chr5:176562356 GRCh38: Chr5:177135355	NSD1		Sotos syndrome 1	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 191345558.	NM_022455.5(NSD1):c.290T>A (p.Phe97Tyr) GRCh37: Chr5:176562394 GRCh38: Chr5:177135393	NSD1	F97Y	Sotos syndrome 1	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 118867859.	NM_022455.5(NSD1):c.293A>T (p.Gln98Leu) GRCh37: Chr5:176562397 GRCh38: Chr5:177135396	NSD1	Q98L	not provided	Likely benign (Dec 3, 2020)	criteria provided, single submitter
Select item 143026260.	NM_022455.5(NSD1):c.331A>G (p.Ile111Val) GRCh37: Chr5:176562435 GRCh38: Chr5:177135434	NSD1	I111V	Sotos syndrome 1	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 121537761.	NM_022455.5(NSD1):c.334G>T (p.Val112Phe) GRCh37: Chr5:176562438 GRCh38: Chr5:177135437	NSD1	V112F	Sotos syndrome 1, not provided	Uncertain significance (Jan 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15930862.	NM_022455.5(NSD1):c.339C>T (p.Cys113_Thr114=) GRCh37: Chr5:176562443 GRCh38: Chr5:177135442	NSD1		Inborn genetic diseases, not specified, Sotos syndrome 1	Benign/Likely benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145079063.	NM_022455.5(NSD1):c.340A>G (p.Thr114Ala) GRCh37: Chr5:176562444 GRCh38: Chr5:177135443	NSD1	T114A	Sotos syndrome 1	Benign (Aug 18, 2022)	criteria provided, single submitter
Select item 143115564.	NM_022455.5(NSD1):c.340A>C (p.Thr114Pro) GRCh37: Chr5:176562444 GRCh38: Chr5:177135443	NSD1	T114P	Sotos syndrome 1	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 80984665.	NM_022455.5(NSD1):c.346T>G (p.Leu116Val) GRCh37: Chr5:176562450 GRCh38: Chr5:177135449	NSD1	L116V	not provided	Uncertain significance (Mar 1, 2018)	criteria provided, single submitter
Select item 15930966.	NM_022455.5(NSD1):c.352C>G (p.Pro118Ala) GRCh37: Chr5:176562456 GRCh38: Chr5:177135455	NSD1	P118A	not specified, Sotos syndrome 1	Benign/Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 200567167.	NM_022455.5(NSD1):c.353C>T (p.Pro118Leu) GRCh37: Chr5:176562457 GRCh38: Chr5:177135456	NSD1	P118L	Sotos syndrome 1	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 173522468.	NM_022455.5(NSD1):c.381A>T (p.Lys127Asn) GRCh37: Chr5:176562485 GRCh38: Chr5:177135484	NSD1	K127N	Inborn genetic diseases	Likely benign (Jun 1, 2019)	criteria provided, single submitter
Select item 169717869.	NM_022455.5(NSD1):c.383A>G (p.Gln128Arg) GRCh37: Chr5:176562487 GRCh38: Chr5:177135486	NSD1	Q128R	not provided	Uncertain significance (Jan 14, 2022)	criteria provided, single submitter
Select item 15931770.	NM_022455.5(NSD1):c.395G>C (p.Cys132Ser) GRCh37: Chr5:176562499 GRCh38: Chr5:177135498	NSD1	C132S	not specified, Sotos syndrome 1	Benign/Likely benign (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 243065871.	NM_022455.5(NSD1):c.398A>G (p.Asn133Ser) GRCh37: Chr5:176562502 GRCh38: Chr5:177135501	NSD1	N133S	not provided	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 207497272.	NM_022455.5(NSD1):c.405C>T (p.Ser135_Pro136=) GRCh37: Chr5:176562509 GRCh38: Chr5:177135508	NSD1		Sotos syndrome 1	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 173848173.	NM_022455.5(NSD1):c.417G>A (p.Gln139_Val140=) GRCh37: Chr5:176562521 GRCh38: Chr5:177135520	NSD1		Inborn genetic diseases, Sotos syndrome 1	Conflicting interpretations of pathogenicity (Mar 21, 2022)	criteria provided, conflicting interpretations
Select item 58917874.	NM_022455.5(NSD1):c.436A>G (p.Ile146Val) GRCh37: Chr5:176562540 GRCh38: Chr5:177135539	NSD1	I146V	Inborn genetic diseases, Sotos syndrome 1	Benign/Likely benign (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131114575.	NM_022455.5(NSD1):c.438C>G (p.Ile146Met) GRCh37: Chr5:176562542 GRCh38: Chr5:177135541	NSD1	I146M	not provided	Uncertain significance (Dec 10, 2019)	criteria provided, single submitter
Select item 217479376.	NM_022455.5(NSD1):c.451C>T (p.Leu151_His152=) GRCh37: Chr5:176562555 GRCh38: Chr5:177135554	NSD1		Sotos syndrome 1	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 69929077.	NM_022455.5(NSD1):c.454C>T (p.His152Tyr) GRCh37: Chr5:176562558 GRCh38: Chr5:177135557	NSD1	H152Y	Sotos syndrome 1, not provided	Likely benign (Feb 7, 2020)	criteria provided, single submitter
Select item 26158878.	NM_022455.5(NSD1):c.480C>T (p.Asp160_Asp161=) GRCh37: Chr5:176562584 GRCh38: Chr5:177135583	NSD1		not specified, not provided, Inborn genetic diseases, Sotos syndrome 1	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 226693079.	NM_022455.5(NSD1):c.482A>T (p.Asp161Val) GRCh37: Chr5:176562586 GRCh38: Chr5:177135585	NSD1	D161V	Inborn genetic diseases	Uncertain significance (Dec 14, 2021)	criteria provided, single submitter
Select item 218922480.	NM_022455.5(NSD1):c.487G>A (p.Asp163Asn) GRCh37: Chr5:176562591 GRCh38: Chr5:177135590	NSD1	D163N	Sotos syndrome 1	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 50705481.	NM_022455.5(NSD1):c.507C>T (p.Asp169_Pro170=) GRCh37: Chr5:176562611 GRCh38: Chr5:177135610	NSD1		not specified	Likely benign (Feb 2, 2017)	criteria provided, single submitter
Select item 52470182.	NM_022455.5(NSD1):c.524C>T (p.Thr175Ile) GRCh37: Chr5:176562628 GRCh38: Chr5:177135627	NSD1	T175I	Beckwith-Wiedemann syndrome, Sotos syndrome 1	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 193469783.	NM_022455.5(NSD1):c.529G>A (p.Asp177Asn) GRCh37: Chr5:176562633 GRCh38: Chr5:177135632	NSD1	D177N	Sotos syndrome 1	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 71330884.	NM_022455.5(NSD1):c.530A>G (p.Asp177Gly) GRCh37: Chr5:176562634 GRCh38: Chr5:177135633	NSD1	D177G	not provided, Sotos syndrome 1	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 52472985.	NM_022455.5(NSD1):c.549C>T (p.Ile183_Phe184=) GRCh37: Chr5:176562653 GRCh38: Chr5:177135652	NSD1		Sotos syndrome 1	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 96657986.	NM_022455.5(NSD1):c.557A>T (p.Glu186Val) GRCh37: Chr5:176562661 GRCh38: Chr5:177135660	NSD1	E186V	Sotos syndrome 1	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 190239587.	NM_022455.5(NSD1):c.560C>G (p.Thr187Ser) GRCh37: Chr5:176562664 GRCh38: Chr5:177135663	NSD1	T187S	Sotos syndrome 1	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 158687488.	NM_022455.5(NSD1):c.567C>T (p.Thr189_Asn190=) GRCh37: Chr5:176562671 GRCh38: Chr5:177135670	NSD1		Sotos syndrome 1	Likely benign (Jul 15, 2021)	criteria provided, single submitter
Select item 204874289.	NM_022455.5(NSD1):c.569A>T (p.Asn190Ile) GRCh37: Chr5:176562673 GRCh38: Chr5:177135672	NSD1	N190I	Sotos syndrome 1	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 72946590.	NM_022455.5(NSD1):c.622G>A (p.Gly208Arg) GRCh37: Chr5:176562726 GRCh38: Chr5:177135725	NSD1	G208R	not provided	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 131964091.	NM_022455.5(NSD1):c.626G>A (p.Ser209Asn) GRCh37: Chr5:176562730 GRCh38: Chr5:177135729	NSD1	S209N	Sotos syndrome 1	Uncertain significance (Nov 3, 2021)	criteria provided, single submitter
Select item 52474292.	NM_022455.5(NSD1):c.639C>T (p.Ser213_Thr214=) GRCh37: Chr5:176562743 GRCh38: Chr5:177135742	NSD1		Beckwith-Wiedemann syndrome, not provided, Sotos syndrome 1, Inborn genetic diseases	Benign/Likely benign (Sep 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 142472393.	NM_022455.5(NSD1):c.641C>T (p.Thr214Ile) GRCh37: Chr5:176562745 GRCh38: Chr5:177135744	NSD1	T214I	Sotos syndrome 1	Uncertain significance (Nov 20, 2021)	criteria provided, single submitter
Select item 150797794.	NM_022455.5(NSD1):c.649_650del (p.Glu216_Ser217insTer) GRCh37: Chr5:176562749-176562750 GRCh38: Chr5:177135748-177135749	NSD1		not provided, Sotos syndrome 1	Uncertain significance (Nov 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130847795.	NM_022455.5(NSD1):c.653G>T (p.Arg218Ile) GRCh37: Chr5:176562757 GRCh38: Chr5:177135756	NSD1	R218I	not provided, Sotos syndrome 1	Uncertain significance (Apr 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96632196.	NM_022455.5(NSD1):c.658_666del (p.Gly220_Val222del) GRCh37: Chr5:176562761-176562769 GRCh38: Chr5:177135760-177135768	NSD1		Sotos syndrome 1	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 35287197.	NM_022455.5(NSD1):c.658G>T (p.Gly220Cys) GRCh37: Chr5:176562762 GRCh38: Chr5:177135761	NSD1	G220C	not provided	Uncertain significance (Aug 1, 2019)	criteria provided, single submitter
Select item 171954098.	NM_022455.5(NSD1):c.661G>T (p.Ala221Ser) GRCh37: Chr5:176562765 GRCh38: Chr5:177135764	NSD1	A221S	Sotos syndrome 1	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 39227199.	NM_022455.5(NSD1):c.662C>T (p.Ala221Val) GRCh37: Chr5:176562766 GRCh38: Chr5:177135765	NSD1	A221V	not provided	Uncertain significance (Dec 22, 2016)	criteria provided, single submitter
Select item 1479687100.	NM_022455.5(NSD1):c.670T>C (p.Ser224Pro) GRCh37: Chr5:176562774 GRCh38: Chr5:177135773	NSD1	S224P	Sotos syndrome 1	Uncertain significance (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts

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