| - GRCh37:
- Chr2:116059643-129828703
- GRCh38:
- Chr2:115302067-129071130
| AMMECR1L, BIN1, C1QL2, C2orf76, CCDC93, CFAP221, CLASP1, CNTNAP5, CNTNAP5-DT, CYP27C1, DBI, DDX18, DPP10, EN1, EPB41L5, ERCC3, GLI2, GPR17, GYPC, HS6ST1, INHBB, INSIG2, IWS1, LIMS2, LINC01101, LINC01823, LINC01826, LINC01889, LINC01941, LINC01956, LOC101927709, LOC101927881, LOC105373609, LOC107985939, LOC110120692, LOC110121228, LOC110121302, LOC112806040, LOC112806041, LOC112806043, LOC112806044, LOC112806045, LOC112806046, LOC115945186, LOC115945187, LOC115945188, LOC115945190, LOC120961781, LOC120961782, LOC120961783, LOC120961784, LOC121725101, LOC121725102, LOC121725103, LOC122819145, LOC122819146, LOC122819147, LOC122819148, LOC122819149, LOC122819150, LOC122819151, LOC122819152, LOC122819153, LOC126806318, LOC126806319, LOC126806320, LOC126806321, LOC126806322, LOC126806323, LOC126806324, LOC126806325, LOC126806326, LOC126806327, LOC126806328, LOC126806329, LOC126806330, LOC126806331, LOC126806332, LOC126806333, LOC126806334, LOC126806335, LOC126806336, LOC126806337, LOC126806338, LOC126806339, LOC126806340, LOC126806341, LOC126806342, LOC126806343, LOC126806344, LOC126806345, LOC126806346, LOC129388903, LOC129388904, LOC129388905, LOC129388906, LOC129388907, LOC129388908, LOC129388909, LOC129388910, LOC129388911, LOC129388912, LOC129388913, LOC129388914, LOC129388915, LOC129388916, LOC129388917, LOC129388918, LOC129934638, LOC129934639, LOC129934640, LOC129934641, LOC129934642, LOC129934643, LOC129934644, LOC129934645, LOC129934646, LOC129934647, LOC129934648, LOC129934649, LOC129934650, LOC129934651, LOC129934652, LOC129934653, LOC129934654, LOC129934655, LOC129934656, LOC129934657, LOC129934658, LOC129934659, LOC129934660, LOC129934661, LOC129934662, LOC129934663, LOC129934664, LOC129934665, LOC129934666, LOC129934667, LOC129934668, LOC129934669, LOC129934670, LOC129934671, LOC129934672, LOC129934673, LOC129934674, LOC129934675, LOC129934676, LOC129934677, LOC129934678, LOC129934679, LOC129934680, LOC129934681, LOC129934682, LOC129934683, LOC129934684, LOC129934685, LOC129934686, LOC129934687, LOC129934688, LOC129934689, LOC129934690, LOC129934691, LOC129934692, LOC129934693, LOC129934694, LOC129934695, LOC129934696, LOC129934697, LOC129934698, LOC129934699, LOC129934700, LOC129934701, LOC129934702, LOC129934703, LOC129934704, LOC129934705, LOC129934706, LOC129934707, LOC129934708, LOC129934709, LOC129934710, LOC129934711, LOC129934712, LOC129934713, LOC129934714, LOC129934715, LOC129934716, LOC129934717, LOC129934718, LOC129934719, LOC129934720, LOC129934721, LOC129934722, LOC129934723, LOC129934724, LOC129934725, LOC129934726, LOC129934727, LOC129934728, LOC129934729, LOC129934730, LOC129934731, LOC129934732, LOC129934733, LOC129934734, LOC129934735, LOC129934736, LOC129934737, LOC129934738, LOC129934739, LOC129934740, LOC129934741, LOC129934742, LOC129934743, LOC129934744, LOC129934745, LOC129934746, LOC129934747, LOC129934748, LOC129934749, LOC129934750, LOC129934751, LOC129934752, LOC129934753, LOC129934754, LOC129934755, LOC129934756, LOC129934757, LOC132088751, MAP3K2, MAP3K2-DT, MARCO, MIR4783, MYO7B, NIFK, NIFK-AS1, POLR2D, PROC, PTPN4, RALB, RNU4ATAC, SAP130, SCTR, SCTR-AS1, SFT2D3, STEAP3, STEAP3-AS1, TEX51, TFCP2L1, THORLNC, TMEM177, TMEM185B, TMEM37, TSN, UGGT1, WDR33 | | See cases | Pathogenic (Oct 1, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr2:118843900-135722308
- GRCh38:
- Chr2:118086324-134964738
| ACMSD, AMER3, AMMECR1L, ANKRD30BL, ARHGEF4, ARHGEF4-AS1, BIN1, C1QL2, C2orf27A, C2orf76, CCDC115, CCDC74A, CCDC74B, CCNT2, CCNT2-AS1, CDRT15P3, CFAP221, CFC1, CFC1B, CLASP1, CNTNAP5, CNTNAP5-DT, CYP27C1, DBI, EN1, EPB41L5, ERCC3, FAM168B, FAM201B, GLI2, GPR148, GPR17, GPR39, GYPC, HS6ST1, IMP4, INHBB, INSIG2, IWS1, LIMS2, LINC01087, LINC01101, LINC01120, LINC01823, LINC01826, LINC01854, LINC01856, LINC01889, LINC01941, LINC01945, LINC01956, LINC02572, LOC101927709, LOC101927881, LOC105373609, LOC108228197, LOC108228198, LOC108281157, LOC110120692, LOC110121228, LOC110121302, LOC112806041, LOC112806043, LOC112806044, LOC112806045, LOC112806046, LOC112806047, LOC112806048, LOC112806050, LOC115945186, LOC115945187, LOC115945188, LOC115945190, LOC115945197, LOC120961781, LOC120961782, LOC120961783, LOC120961784, LOC120961785, LOC121725101, LOC121725102, LOC121725103, LOC122819145, LOC122819146, LOC122819147, LOC122819148, LOC122819149, LOC122819150, LOC122819151, LOC122819152, LOC122819153, LOC122819154, LOC122819155, LOC122819156, LOC122819157, LOC122819158, LOC126806321, LOC126806322, LOC126806323, LOC126806324, LOC126806325, LOC126806326, LOC126806327, LOC126806328, LOC126806329, LOC126806330, LOC126806331, LOC126806332, LOC126806333, LOC126806334, LOC126806335, LOC126806336, LOC126806337, LOC126806338, LOC126806339, LOC126806340, LOC126806341, LOC126806342, LOC126806343, LOC126806344, LOC126806345, LOC126806346, LOC126806347, LOC126806348, LOC126806349, LOC126806350, LOC126806351, LOC126806352, LOC129388903, LOC129388904, LOC129388905, LOC129388906, LOC129388907, LOC129388908, LOC129388909, LOC129388910, LOC129388911, LOC129388912, LOC129388913, LOC129388914, LOC129388915, LOC129388916, LOC129388917, LOC129388918, LOC129388919, LOC129388920, LOC129934643, LOC129934644, LOC129934645, LOC129934646, LOC129934647, LOC129934648, LOC129934649, LOC129934650, LOC129934651, LOC129934652, LOC129934653, LOC129934654, LOC129934655, LOC129934656, LOC129934657, LOC129934658, LOC129934659, LOC129934660, LOC129934661, LOC129934662, LOC129934663, LOC129934664, LOC129934665, LOC129934666, LOC129934667, LOC129934668, LOC129934669, LOC129934670, LOC129934671, LOC129934672, LOC129934673, LOC129934674, LOC129934675, LOC129934676, LOC129934677, LOC129934678, LOC129934679, LOC129934680, LOC129934681, LOC129934682, LOC129934683, LOC129934684, LOC129934685, LOC129934686, LOC129934687, LOC129934688, LOC129934689, LOC129934690, LOC129934691, LOC129934692, LOC129934693, LOC129934694, LOC129934695, LOC129934696, LOC129934697, LOC129934698, LOC129934699, LOC129934700, LOC129934701, LOC129934702, LOC129934703, LOC129934704, LOC129934705, LOC129934706, LOC129934707, LOC129934708, LOC129934709, LOC129934710, LOC129934711, LOC129934712, LOC129934713, LOC129934714, LOC129934715, LOC129934716, LOC129934717, LOC129934718, LOC129934719, LOC129934720, LOC129934721, LOC129934722, LOC129934723, LOC129934724, LOC129934725, LOC129934726, LOC129934727, LOC129934728, LOC129934729, LOC129934730, LOC129934731, LOC129934732, LOC129934733, LOC129934734, LOC129934735, LOC129934736, LOC129934737, LOC129934738, LOC129934739, LOC129934740, LOC129934741, LOC129934742, LOC129934743, LOC129934744, LOC129934745, LOC129934746, LOC129934747, LOC129934748, LOC129934749, LOC129934750, LOC129934751, LOC129934752, LOC129934753, LOC129934754, LOC129934755, LOC129934756, LOC129934757, LOC129934758, LOC129934759, LOC129934760, LOC129934761, LOC129934763, LOC129934764, LOC129934765, LOC129934766, LOC129934767, LOC129934768, LOC129934769, LOC129934770, LOC129934771, LOC129934772, LOC129934773, LOC129934774, LOC129934775, LOC129934776, LOC129934777, LOC129934778, LOC129934779, LOC129934780, LOC129934781, LOC129934782, LOC129934783, LOC129934784, LOC129934785, LOC129934786, LOC129934787, LOC129934788, LOC129934789, LOC129934790, LOC129934791, LOC129934792, LOC129934793, LOC129934794, LOC129934795, LOC129934796, LOC129934797, LOC129934798, LOC129934799, LOC129934800, LOC129934801, LOC129934802, LOC129934803, LOC129934804, LOC129934805, LOC129934806, LOC129934807, LOC129934808, LOC129934809, LOC129934810, LOC129934811, LOC129934812, LOC129934813, LOC129934814, LOC129934815, LOC129934816, LOC129934817, LOC129934818, LOC129934819, LOC129934820, LOC129934821, LOC129934822, LOC129934823, LOC129934824, LOC129934825, LOC129934826, LOC129934827, LOC129934828, LOC129934829, LOC132088751, LOC132088752, LOC132088753, LOC440910, LYPD1, MAP3K19, MAP3K2, MAP3K2-DT, MARCO, MGAT5, MIR3679, MIR4783, MIR4784, MIR5590, MIR663B, MIR9986, MYO7B, MZT2A, MZT2B, NCKAP5, NCKAP5-AS1, NCKAP5-AS2, NIFK, NIFK-AS1, PLEKHB2, POLR2D, POTEE, POTEF, POTEF-AS1, POTEI, POTEJ, PROC, PTPN18, PTPN4, RAB6C, RAB6C-AS1, RAB6D, RALB, RNU4ATAC, SAP130, SCTR, SCTR-AS1, SFT2D3, SMIM39, SMPD4, STEAP3, STEAP3-AS1, TEX51, TFCP2L1, THORLNC, TMEM163, TMEM177, TMEM185B, TMEM37, TRE-TTC1-1, TSN, TUBA3D, TUBA3E, UGGT1, WDR33, ZNF806 | | See cases | Pathogenic (May 6, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr2:122582374-129628378
- GRCh38:
- Chr2:121824798-128870804
| AMMECR1L, BIN1, CNTNAP5, CNTNAP5-DT, CYP27C1, ERCC3, GPR17, GYPC, HS6ST1, IWS1, LIMS2, LINC01826, LINC01889, LINC01941, LOC101927881, LOC105373609, LOC110121302, LOC112806045, LOC112806046, LOC115945188, LOC115945190, LOC120961783, LOC120961784, LOC121725101, LOC121725102, LOC121725103, LOC122819149, LOC122819150, LOC122819151, LOC122819152, LOC122819153, LOC126806338, LOC126806339, LOC126806340, LOC126806341, LOC126806342, LOC126806343, LOC126806344, LOC126806345, LOC126806346, LOC129388905, LOC129388906, LOC129388907, LOC129388908, LOC129388909, LOC129388910, LOC129388911, LOC129388912, LOC129388913, LOC129388914, LOC129388915, LOC129388916, LOC129388917, LOC129388918, LOC129934700, LOC129934701, LOC129934702, LOC129934703, LOC129934704, LOC129934705, LOC129934706, LOC129934707, LOC129934708, LOC129934709, LOC129934710, LOC129934711, LOC129934712, LOC129934713, LOC129934714, LOC129934715, LOC129934716, LOC129934717, LOC129934718, LOC129934719, LOC129934720, LOC129934721, LOC129934722, LOC129934723, LOC129934724, LOC129934725, LOC129934726, LOC129934727, LOC129934728, LOC129934729, LOC129934730, LOC129934731, LOC129934732, LOC129934733, LOC129934734, LOC129934735, LOC129934736, LOC129934737, LOC129934738, LOC129934739, LOC129934740, LOC129934741, LOC129934742, LOC129934743, LOC129934744, LOC129934745, LOC129934746, LOC129934747, LOC129934748, LOC129934749, LOC129934750, LOC129934751, LOC129934752, LOC129934753, LOC129934754, LOC129934755, LOC129934756, LOC129934757, MAP3K2, MAP3K2-DT, MIR4783, MYO7B, POLR2D, PROC, SAP130, SFT2D3, TEX51, UGGT1, WDR33 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:123081919-129129278
- GRCh38:
- Chr2:122324343-128371704
| LOC115945190, LOC120961783, LOC121725101, LOC121725102, LOC121725103, LOC122819150, LOC122819151, LOC122819152, LOC126806339, LOC126806340, LOC126806341, LOC126806342, LOC126806343, LOC126806344, LOC126806345, LOC129388908, LOC129388909, LOC129388910, LOC129388911, LOC129388912, LOC129388913, LOC129388914, LOC129388915, LOC129388916, LOC129388917, LOC129934702, LOC129934703, LOC129934704, LOC129934705, LOC129934706, LOC129934707, LOC129934708, LOC129934709, LOC129934710, LOC129934711, LOC129934712, LOC129934713, LOC129934714, LOC129934715, LOC129934716, LOC129934717, LOC129934718, LOC129934719, LOC129934720, LOC129934721, LOC129934722, LOC129934723, LOC129934724, LOC129934725, LOC129934726, LOC129934727, LOC129934728, LOC129934729, LOC129934730, LOC129934731, LOC129934732, LOC129934733, LOC129934734, LOC129934735, LOC129934736, LOC129934737, LOC129934738, LOC129934739, LOC129934740, LOC129934741, LOC129934742, LOC129934743, LOC129934744, LOC129934745, LOC129934746, LOC129934747, LOC129934748, LOC129934749, LOC129934750, LOC129934751, MAP3K2, MAP3K2-DT, MIR4783, MYO7B, POLR2D, PROC, SAP130, SFT2D3, TEX51, UGGT1, WDR33, AMMECR1L, BIN1, CNTNAP5, CNTNAP5-DT, CYP27C1, ERCC3, GPR17, GYPC, HS6ST1, IWS1, LIMS2, LINC01826, LINC01889, LINC01941, LOC105373609, LOC112806045, LOC115945188 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:123604932-130303154
- GRCh38:
- Chr2:122847356-129545581
| AMMECR1L, BIN1, CNTNAP5, CNTNAP5-DT, CYP27C1, ERCC3, GPR17, GYPC, HS6ST1, IWS1, LIMS2, LINC01826, LINC01854, LINC01889, LINC01941, LOC101927881, LOC105373609, LOC112806045, LOC112806046, LOC115945188, LOC115945190, LOC120961783, LOC120961784, LOC121725101, LOC121725102, LOC121725103, LOC122819150, LOC122819151, LOC122819152, LOC122819153, LOC126806339, LOC126806340, LOC126806341, LOC126806342, LOC126806343, LOC126806344, LOC126806345, LOC126806346, LOC129388908, LOC129388909, LOC129388910, LOC129388911, LOC129388912, LOC129388913, LOC129388914, LOC129388915, LOC129388916, LOC129388917, LOC129388918, LOC129934703, LOC129934704, LOC129934705, LOC129934706, LOC129934707, LOC129934708, LOC129934709, LOC129934710, LOC129934711, LOC129934712, LOC129934713, LOC129934714, LOC129934715, LOC129934716, LOC129934717, LOC129934718, LOC129934719, LOC129934720, LOC129934721, LOC129934722, LOC129934723, LOC129934724, LOC129934725, LOC129934726, LOC129934727, LOC129934728, LOC129934729, LOC129934730, LOC129934731, LOC129934732, LOC129934733, LOC129934734, LOC129934735, LOC129934736, LOC129934737, LOC129934738, LOC129934739, LOC129934740, LOC129934741, LOC129934742, LOC129934743, LOC129934744, LOC129934745, LOC129934746, LOC129934747, LOC129934748, LOC129934749, LOC129934750, LOC129934751, LOC129934752, LOC129934753, LOC129934754, LOC129934755, LOC129934756, LOC129934757, LOC129934758, LOC129934759, LOC129934760, MAP3K2, MAP3K2-DT, MIR4783, MYO7B, POLR2D, PROC, SAP130, SFT2D3, TEX51, UGGT1, WDR33 | | See cases | Likely pathogenic (Apr 27, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr2:123927565-129217649
- GRCh38:
- Chr2:123169989-128460075
| AMMECR1L, BIN1, CNTNAP5, CNTNAP5-DT, CYP27C1, ERCC3, GPR17, GYPC, HS6ST1, IWS1, LIMS2, LINC01889, LINC01941, LOC105373609, LOC112806045, LOC112806046, LOC115945188, LOC115945190, LOC120961783, LOC121725101, LOC121725102, LOC121725103, LOC122819150, LOC122819151, LOC122819152, LOC126806339, LOC126806340, LOC126806341, LOC126806342, LOC126806343, LOC126806344, LOC126806345, LOC129388908, LOC129388909, LOC129388910, LOC129388911, LOC129388912, LOC129388913, LOC129388914, LOC129388915, LOC129388916, LOC129388917, LOC129934703, LOC129934704, LOC129934705, LOC129934706, LOC129934707, LOC129934708, LOC129934709, LOC129934710, LOC129934711, LOC129934712, LOC129934713, LOC129934714, LOC129934715, LOC129934716, LOC129934717, LOC129934718, LOC129934719, LOC129934720, LOC129934721, LOC129934722, LOC129934723, LOC129934724, LOC129934725, LOC129934726, LOC129934727, LOC129934728, LOC129934729, LOC129934730, LOC129934731, LOC129934732, LOC129934733, LOC129934734, LOC129934735, LOC129934736, LOC129934737, LOC129934738, LOC129934739, LOC129934740, LOC129934741, LOC129934742, LOC129934743, LOC129934744, LOC129934745, LOC129934746, LOC129934747, LOC129934748, LOC129934749, LOC129934750, LOC129934751, MAP3K2, MAP3K2-DT, MIR4783, MYO7B, POLR2D, PROC, SAP130, SFT2D3, TEX51, UGGT1, WDR33 | | See cases | Pathogenic (Jul 30, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr2:124203338-141350107
- GRCh38:
- Chr2:123445762-140592538
| ACMSD, AMER3, AMMECR1L, ANKRD30BL, ARHGEF4, ARHGEF4-AS1, BIN1, C2orf27A, CCDC115, CCDC74A, CCDC74B, CCNT2, CCNT2-AS1, CDRT15P3, CFC1, CFC1B, CNTNAP5, CNTNAP5-DT, CXCR4, CYP27C1, DARS1, DARS1-AS1, ERCC3, FAM168B, FAM201B, GPR148, GPR17, GPR39, GYPC, HNMT, HS6ST1, IMP4, IWS1, LCT, LCT-AS1, LIMS2, LINC01087, LINC01120, LINC01832, LINC01853, LINC01854, LINC01856, LINC01889, LINC01941, LINC01945, LINC02572, LINC02631, LOC101927881, LOC101928273, LOC105373609, LOC105373643, LOC107985946, LOC108228197, LOC108228198, LOC108281157, LOC111562379, LOC112806045, LOC112806046, LOC112806047, LOC112806048, LOC112806050, LOC115945188, LOC115945190, LOC115945197, LOC120961783, LOC120961784, LOC120961785, LOC120961786, LOC121725101, LOC121725102, LOC121725103, LOC121725104, LOC122819150, LOC122819151, LOC122819152, LOC122819153, LOC122819154, LOC122819155, LOC122819156, LOC122819157, LOC122819158, LOC122819159, LOC122819160, LOC122819161, LOC122819162, LOC126806339, LOC126806340, LOC126806341, LOC126806342, LOC126806343, LOC126806344, LOC126806345, LOC126806346, LOC126806347, LOC126806348, LOC126806349, LOC126806350, LOC126806351, LOC126806352, LOC126806353, LOC126806354, LOC126806355, LOC126806356, LOC126806357, LOC129388908, LOC129388909, LOC129388910, LOC129388911, LOC129388912, LOC129388913, LOC129388914, LOC129388915, LOC129388916, LOC129388917, LOC129388918, LOC129388919, LOC129388920, LOC129388921, LOC129388922, LOC129388923, LOC129388924, LOC129934703, LOC129934704, LOC129934705, LOC129934706, LOC129934707, LOC129934708, LOC129934709, LOC129934710, LOC129934711, LOC129934712, LOC129934713, LOC129934714, LOC129934715, LOC129934716, LOC129934717, LOC129934718, LOC129934719, LOC129934720, LOC129934721, LOC129934722, LOC129934723, LOC129934724, LOC129934725, LOC129934726, LOC129934727, LOC129934728, LOC129934729, LOC129934730, LOC129934731, LOC129934732, LOC129934733, LOC129934734, LOC129934735, LOC129934736, LOC129934737, LOC129934738, LOC129934739, LOC129934740, LOC129934741, LOC129934742, LOC129934743, LOC129934744, LOC129934745, LOC129934746, LOC129934747, LOC129934748, LOC129934749, LOC129934750, LOC129934751, LOC129934752, LOC129934753, LOC129934754, LOC129934755, LOC129934756, LOC129934757, LOC129934758, LOC129934759, LOC129934760, LOC129934761, LOC129934763, LOC129934764, LOC129934765, LOC129934766, LOC129934767, LOC129934768, LOC129934769, LOC129934770, LOC129934771, LOC129934772, LOC129934773, LOC129934774, LOC129934775, LOC129934776, LOC129934777, LOC129934778, LOC129934779, LOC129934780, LOC129934781, LOC129934782, LOC129934783, LOC129934784, LOC129934785, LOC129934786, LOC129934787, LOC129934788, LOC129934789, LOC129934790, LOC129934791, LOC129934792, LOC129934793, LOC129934794, LOC129934795, LOC129934796, LOC129934797, LOC129934798, LOC129934799, LOC129934800, LOC129934801, LOC129934802, LOC129934803, LOC129934804, LOC129934805, LOC129934806, LOC129934807, LOC129934808, LOC129934809, LOC129934810, LOC129934811, LOC129934812, LOC129934813, LOC129934814, LOC129934815, LOC129934816, LOC129934817, LOC129934818, LOC129934819, LOC129934820, LOC129934821, LOC129934822, LOC129934823, LOC129934824, LOC129934825, LOC129934826, LOC129934827, LOC129934828, LOC129934829, LOC129934830, LOC129934831, LOC129934832, LOC129934833, LOC129934834, LOC129934835, LOC129934836, LOC129934837, LOC129934838, LOC129934839, LOC129934840, LOC129934841, LOC129934842, LOC129934843, LOC129934844, LOC129934845, LOC129934846, LOC129934847, LOC129934848, LOC129934849, LOC129934850, LOC129934851, LOC129934852, LOC129934853, LOC129934854, LOC129934855, LOC129934856, LOC129934857, LOC129934858, LOC129934859, LOC129934860, LOC129934861, LOC129934862, LOC129934863, LOC132088752, LOC132088753, LOC440910, LRP1B, LYPD1, MAP3K19, MAP3K2, MAP3K2-DT, MCM6, MGAT5, MIR128-1, MIR3679, MIR4783, MIR4784, MIR5590, MIR663B, MIR7157, MIR9986, MYO7B, MZT2A, MZT2B, NCKAP5, NCKAP5-AS1, NCKAP5-AS2, NXPH2, PLEKHB2, POLR2D, POTEE, POTEF, POTEF-AS1, POTEI, POTEJ, PROC, PTPN18, R3HDM1, RAB3GAP1, RAB6C, RAB6C-AS1, RAB6D, SAP130, SFT2D3, SMIM39, SMPD4, SNORA40B, SPOPL, SPOPL-DT, TEX51, THSD7B, TMEM163, TRE-TTC1-1, TUBA3D, TUBA3E, UBXN4, UGGT1, WDR33, ZNF806, ZRANB3 | | See cases | Pathogenic (Oct 1, 2010) | no assertion criteria provided |
| - GRCh38:
- Chr2:124348648-129410245
| LOC129934710, LOC129934711, LOC129934712, LOC129934716, LOC129934717, LOC129934718, LOC129934721, LOC129934722, LOC129934723, LOC129934724, LOC129934719, LOC129934720, LOC129934713, LOC129934714, LOC129934725, LOC129934726, LOC129934715, ERCC3, AMMECR1L, BIN1, CNTNAP5, CYP27C1, GPR17, GYPC, HS6ST1, IWS1, LIMS2, LINC01854, LINC01889, LINC01941, LOC101927881, LOC105373609, LOC112806045, LOC112806046, LOC115945188, LOC115945190, LOC120961783, LOC120961784, LOC121725101, LOC121725102, LOC121725103, LOC122819150, LOC122819151, LOC122819152, LOC122819153, LOC126806340, LOC126806341, LOC126806342, LOC126806343, LOC126806344, LOC126806345, LOC126806346, LOC129388909, LOC129388910, LOC129388911, LOC129388912, LOC129388913, LOC129388914, LOC129388915, LOC129388916, LOC129388917, LOC129388918, LOC129934703, LOC129934704, LOC129934705, LOC129934706, LOC129934707, LOC129934708, LOC129934709, LOC129934727, LOC129934728, LOC129934729, LOC129934730, LOC129934731, LOC129934732, LOC129934733, LOC129934734, LOC129934735, LOC129934736, LOC129934737, LOC129934738, LOC129934739, LOC129934740, LOC129934741, LOC129934742, LOC129934743, LOC129934744, LOC129934745, LOC129934746, LOC129934747, LOC129934748, LOC129934749, LOC129934750, LOC129934751, LOC129934752, LOC129934753, LOC129934754, LOC129934755, LOC129934756, LOC129934757, LOC129934758, LOC129934759, LOC129934760, MAP3K2, MAP3K2-DT, MIR4783, MYO7B, POLR2D, PROC, SAP130, SFT2D3, TEX51, UGGT1, WDR33 | | See cases | not provided | no assertion provided |
| - GRCh37:
- Chr2:127820782-131285027
- GRCh38:
- Chr2:127063206-130527454
| AMMECR1L, BIN1, CCDC115, CCDC74B, CFC1B, CYP27C1, ERCC3, GPR17, HS6ST1, IMP4, IWS1, LIMS2, LINC01854, LINC01856, LINC02572, LOC101927881, LOC105373609, LOC112806045, LOC112806046, LOC112806047, LOC120961783, LOC120961784, LOC121725101, LOC121725102, LOC121725103, LOC122819150, LOC122819151, LOC122819152, LOC122819153, LOC126806343, LOC126806344, LOC126806345, LOC126806346, LOC126806347, LOC129388911, LOC129388912, LOC129388913, LOC129388914, LOC129388915, LOC129388916, LOC129388917, LOC129388918, LOC129934710, LOC129934711, LOC129934712, LOC129934713, LOC129934714, LOC129934715, LOC129934716, LOC129934717, LOC129934718, LOC129934719, LOC129934720, LOC129934721, LOC129934722, LOC129934723, LOC129934724, LOC129934725, LOC129934726, LOC129934727, LOC129934728, LOC129934729, LOC129934730, LOC129934731, LOC129934732, LOC129934733, LOC129934734, LOC129934735, LOC129934736, LOC129934737, LOC129934738, LOC129934739, LOC129934740, LOC129934741, LOC129934742, LOC129934743, LOC129934744, LOC129934745, LOC129934746, LOC129934747, LOC129934748, LOC129934749, LOC129934750, LOC129934751, LOC129934752, LOC129934753, LOC129934754, LOC129934755, LOC129934756, LOC129934757, LOC129934758, LOC129934759, LOC129934760, LOC129934761, LOC129934763, LOC129934764, LOC129934765, LOC129934766, LOC129934767, LOC129934768, LOC129934769, LOC129934770, LOC129934771, LOC129934772, LOC129934773, LOC129934774, LOC129934775, MAP3K2, MAP3K2-DT, MIR4783, MYO7B, MZT2B, POLR2D, POTEF, POTEF-AS1, POTEI, PROC, PTPN18, RAB6C, RAB6C-AS1, SAP130, SFT2D3, SMPD4, TRE-TTC1-1, TUBA3E, UGGT1, WDR33 | | See cases | Uncertain significance (May 7, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr2:128719039-129389215
- GRCh38:
- Chr2:127961465-128631641
| HS6ST1, LOC112806046, LOC120961783, LOC120961784, LOC121725102, LOC121725103, LOC122819152, LOC126806345, LOC129388918, LOC129934738, LOC129934739, LOC129934740, LOC129934741, LOC129934742, LOC129934743, LOC129934744, LOC129934745, LOC129934746, LOC129934747, LOC129934748, LOC129934749, LOC129934750, LOC129934751, LOC129934752, LOC129934753, LOC129934754, SAP130, UGGT1 | | See cases | Likely benign (Jan 14, 2011) | no assertion criteria provided |
| - GRCh38:
- Chr2:128262169-128275055
| HS6ST1, LOC121725102 | | Hypogonadotropic hypogonadism 15 with or without anosmia | Uncertain significance (May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129025396
- GRCh38:
- Chr2:128267822
| HS6ST1 | | not provided | Likely benign (Nov 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129025404
- GRCh38:
- Chr2:128267830
| HS6ST1 | | not provided | Benign (Oct 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129025468
- GRCh38:
- Chr2:128267894
| HS6ST1 | | not provided | Likely benign (Apr 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129025619
- GRCh38:
- Chr2:128268045
| HS6ST1 | | not provided | Benign (Oct 21, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129025705
- GRCh38:
- Chr2:128268131
| HS6ST1 | | not provided | Benign (Aug 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129025754
- GRCh38:
- Chr2:128268180
| HS6ST1 | H406Q | not provided | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129025759
- GRCh38:
- Chr2:128268185
| HS6ST1 | S405G | not provided | Uncertain significance (Jan 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129025762
- GRCh38:
- Chr2:128268188
| HS6ST1 | M404V | Hypogonadotropic hypogonadism 15 with anosmia | risk factor (Jul 12, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr2:129025771
- GRCh38:
- Chr2:128268197
| HS6ST1 | E401K | Inborn genetic diseases | Uncertain significance (Oct 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129025778
- GRCh38:
- Chr2:128268204
| HS6ST1 | | Hypogonadotropic hypogonadism | Uncertain significance (Jun 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129025788
- GRCh38:
- Chr2:128268214
| HS6ST1 | P395L | Inborn genetic diseases, not provided | Uncertain significance (Jul 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:129025795
- GRCh38:
- Chr2:128268221
| HS6ST1 | D393N | not provided | Benign (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129025827
- GRCh38:
- Chr2:128268253
| HS6ST1 | R382Q | Inborn genetic diseases | Uncertain significance (Dec 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129025828
- GRCh38:
- Chr2:128268254
| HS6ST1 | R382W | Hypogonadotropic hypogonadism 15 with or without anosmia, not specified, not provided, Hypogonadotropic hypogonadism 7 with or without anosmia | Conflicting interpretations of pathogenicity (Aug 22, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:129025839
- GRCh38:
- Chr2:128268265
| HS6ST1 | R378H | Inborn genetic diseases | Uncertain significance (Mar 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129025847
- GRCh38:
- Chr2:128268273
| HS6ST1 | | not provided | Likely benign (Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129025848
- GRCh38:
- Chr2:128268274
| HS6ST1 | R375H | not provided | Uncertain significance (Feb 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129025849
- GRCh38:
- Chr2:128268275
| HS6ST1 | R375C | Inborn genetic diseases | Uncertain significance (Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129025851
- GRCh38:
- Chr2:128268277
| HS6ST1 | S374N | not specified, not provided | Conflicting interpretations of pathogenicity (Feb 27, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:129025860
- GRCh38:
- Chr2:128268286
| HS6ST1 | R371H | Hypogonadotropic hypogonadism 7 with or without anosmia | Likely benign (May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129025861
- GRCh38:
- Chr2:128268287
| HS6ST1 | R371C | Inborn genetic diseases | Uncertain significance (Jun 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129025895
- GRCh38:
- Chr2:128268321
| HS6ST1 | | not provided | Uncertain significance (Dec 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129025922
- GRCh38:
- Chr2:128268348
| HS6ST1 | | not provided | Likely benign (Jun 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129025955
- GRCh38:
- Chr2:128268381
| HS6ST1 | E339D | not provided | Uncertain significance (Jan 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129025960
- GRCh38:
- Chr2:128268386
| HS6ST1 | E338K | not provided | Uncertain significance (Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129025968
- GRCh38:
- Chr2:128268394
| HS6ST1 | R335Q | Inborn genetic diseases | Uncertain significance (Dec 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129026004
- GRCh38:
- Chr2:128268430
| HS6ST1 | R323Q | Hypogonadotropic hypogonadism 15 with anosmia | risk factor (Jul 12, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr2:129026017
- GRCh38:
- Chr2:128268443
| HS6ST1 | Y319N | Hypogonadotropic hypogonadism 15 with or without anosmia | Uncertain significance (Oct 4, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129026052
- GRCh38:
- Chr2:128268478
| HS6ST1 | T307M | not provided | Uncertain significance (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129026055
- GRCh38:
- Chr2:128268481
| HS6ST1 | R306Q | not specified, not provided | Uncertain significance (May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:129026056
- GRCh38:
- Chr2:128268482
| HS6ST1 | R306W | Hypogonadotropic hypogonadism 15 with anosmia | risk factor (May 2, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr2:129026060
- GRCh38:
- Chr2:128268486
| HS6ST1 | | not provided | Likely benign (Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129026090
- GRCh38:
- Chr2:128268516
| HS6ST1 | | not provided | Likely benign (Aug 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129026093
- GRCh38:
- Chr2:128268519
| HS6ST1 | | not provided | Likely benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129026099
- GRCh38:
- Chr2:128268525
| HS6ST1 | | not provided | Benign (Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129026115
- GRCh38:
- Chr2:128268541
| HS6ST1 | R286Q | not specified | Uncertain significance (Dec 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129026124
- GRCh38:
- Chr2:128268550
| HS6ST1 | K283R | not provided | Uncertain significance (Dec 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129026144
- GRCh38:
- Chr2:128268570
| HS6ST1 | | not provided | Benign (Oct 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129026165
- GRCh38:
- Chr2:128268591
| HS6ST1 | | not provided | Likely benign (Dec 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:129026207
- GRCh38:
- Chr2:128268633
| HS6ST1 | | not provided | Likely benign (Jan 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129026226
- GRCh38:
- Chr2:128268652
| HS6ST1 | R249H | Inborn genetic diseases | Uncertain significance (Apr 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129026227
- GRCh38:
- Chr2:128268653
| HS6ST1 | R249S | Hypogonadotropic hypogonadism 15 with or without anosmia, not provided, Hypogonadotropic hypogonadism 7 with or without anosmia
| Benign/Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:129026240
- GRCh38:
- Chr2:128268666
| HS6ST1 | | not provided | Likely benign (Jun 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129026247
- GRCh38:
- Chr2:128268673
| HS6ST1 | P242L | not provided | Uncertain significance (Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129026249
- GRCh38:
- Chr2:128268675
| HS6ST1 | | not provided | Likely benign (Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129026270
- GRCh38:
- Chr2:128268696
| HS6ST1 | | not provided | Benign/Likely benign (Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:129026297
- GRCh38:
- Chr2:128268723
| HS6ST1 | | not provided | Benign (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129026320
- GRCh38:
- Chr2:128268746
| HS6ST1 | P218S | not provided, not specified | Conflicting interpretations of pathogenicity (Sep 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:129026331
- GRCh38:
- Chr2:128268757
| HS6ST1 | R214H | Inborn genetic diseases | Uncertain significance (Jul 19, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129026380
- GRCh38:
- Chr2:128268806
| HS6ST1 | V198M | not provided | Uncertain significance (Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129026411
- GRCh38:
- Chr2:128268837
| HS6ST1 | | not provided | Benign/Likely benign (Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:129026456
- GRCh38:
- Chr2:128268882
| HS6ST1 | | not provided | Likely benign (May 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129026457
- GRCh38:
- Chr2:128268883
| HS6ST1 | | not provided | Benign (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:129026512
- GRCh38:
- Chr2:128268938
| HS6ST1 | | not provided | Likely benign (Jul 22, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129026622
- GRCh38:
- Chr2:128269048
| HS6ST1 | | not provided | Benign (Nov 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129026718
- GRCh38:
- Chr2:128269144
| HS6ST1 | | not provided | Likely benign (Jul 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129026749
- GRCh38:
- Chr2:128269175
| HS6ST1 | | not provided | Benign (Aug 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129026777
- GRCh38:
- Chr2:128269203
| HS6ST1 | | not provided | Benign (Aug 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129075342
- GRCh38:
- Chr2:128317768
| HS6ST1 | | not provided | Benign (May 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129075508
- GRCh38:
- Chr2:128317934
| HS6ST1, LOC129934748 | | not provided | Likely benign (Apr 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129075720
- GRCh38:
- Chr2:128318146
| HS6ST1 | R140G | not provided | Uncertain significance (May 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129075790
- GRCh38:
- Chr2:128318216
| HS6ST1 | | not provided | Likely benign (Sep 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129075794
- GRCh38:
- Chr2:128318220
| HS6ST1 | P115Q | not provided, Inborn genetic diseases | Uncertain significance (Mar 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:129075802
- GRCh38:
- Chr2:128318228
| HS6ST1 | | not provided | Benign (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129075877
- GRCh38:
- Chr2:128318303
| HS6ST1 | D87E | Hypogonadotropic hypogonadism 7 with or without anosmia | Likely benign (May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129075904
- GRCh38:
- Chr2:128318330
| HS6ST1 | | not provided | Likely benign (Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129075905
- GRCh38:
- Chr2:128318331
| HS6ST1 | S78L | not specified | Uncertain significance (Nov 20, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129075932
- GRCh38:
- Chr2:128318358
| HS6ST1 | Y69C | not provided | Uncertain significance (Jul 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129075951
- GRCh38:
- Chr2:128318377
| HS6ST1 | H63D | not provided | Likely benign (Jul 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129075960
- GRCh38:
- Chr2:128318386
| HS6ST1 | P60S | Inborn genetic diseases | Uncertain significance (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129075961
- GRCh38:
- Chr2:128318387
| HS6ST1 | | not provided | Benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:129076016
- GRCh38:
- Chr2:128318442
| HS6ST1 | S41I | not provided | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129076016
- GRCh38:
- Chr2:128318442
| HS6ST1 | S41T | not provided | Benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:129076022
- GRCh38:
- Chr2:128318448
| HS6ST1 | G39A | Inborn genetic diseases | Uncertain significance (Apr 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129076050
- GRCh38:
- Chr2:128318476
| HS6ST1 | L30F | Inborn genetic diseases | Uncertain significance (Aug 4, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129076063
- GRCh38:
- Chr2:128318489
| HS6ST1 | | not provided | Benign (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129076078
- GRCh38:
- Chr2:128318504
| HS6ST1 | | not provided | Benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129076097
- GRCh38:
- Chr2:128318523
| HS6ST1 | R14P | not provided | Uncertain significance (Dec 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129076123-129076124
- GRCh38:
- Chr2:128318549-128318550
| HS6ST1 | | not provided | Uncertain significance (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129076137
- GRCh38:
- Chr2:128318563
| HS6ST1 | M1V | not provided | Uncertain significance (Dec 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129076195
- GRCh38:
- Chr2:128318621
| HS6ST1 | | not provided | Likely benign (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129076387
- GRCh38:
- Chr2:128318813
| HS6ST1, LOC129934749 | | not provided | Benign (Oct 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129076396
- GRCh38:
- Chr2:128318822
| LOC129934749, HS6ST1 | | not provided | Benign (Aug 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129076418
- GRCh38:
- Chr2:128318844
| HS6ST1, LOC129934749 | | not provided | Benign (May 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:129025736-129026464
| HS6ST1 | | not provided | Uncertain significance (Oct 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:127806102-129076137
| ERCC3, PROC, AMMECR1L, MAP3K2, CYP27C1, WDR33, POLR2D, SFT2D3, UGGT1, MYO7B, GPR17, LIMS2, SAP130, BIN1, HS6ST1, IWS1 | | Thrombophilia due to protein C deficiency, autosomal dominant | Pathogenic (Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:127451420-129076137
| POLR2D, PROC, GPR17, GYPC, HS6ST1, IWS1, LIMS2, MAP3K2, MYO7B, ERCC3, AMMECR1L, BIN1, CYP27C1, SAP130, SFT2D3, UGGT1, WDR33 | | not provided | Pathogenic (Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:1-243199373
| ABCA12, ABCB11, ABCB6, ANKAR, ANKMY1, ANKRD23, BIRC6, BMP10, CCL20, CCNT2, CLIP4, CLK1, CYP27A1, CYP27C1, CYRIA, DYNC2LI1, DYSF, DYTN, FAM124B, GALM, GALNT13, HES6, HIBCH, IL36G, IL36RN, KLF11, KLF7, MAIP1, MAL, MOB4, MOGAT1, NDUFS1, NEB, PAIP2B, PAPOLG, POU3F3, PPIG, PPIL3, PPP1CB, PPP1R1C, PPP1R21, PPP1R7, PPM1B, PPM1G, PDE11A, PDE1A, PDE6D, PDIA6, PARD3B, PASK, NHEJ1, NIF3L1, NIFK, NLRC4, NMI, NFE2L2, NFU1, NEU2, NEU4, NEUROD1, PDK1, PECR, PELI1, PER2, PEX13, PFN4, PGAP1, PCGF1, PCYOX1, MOGS, MRPL53, MRPS5, MRPS9, MSGN1, MPP4, MPV17, MRPL30, MRPL33, MORN2, MPHOSPH10, MREG, MROH2A, MRPL19, MRPL35, MRPL44, PDCD1, PDCL3, NEMP2, NGEF, MALL, MAP2, MARCHF7, MARCO, MARS2, MAT2A, MCM6, MAP3K20, MAP3K19, MAP3K2, MAP4K3, MAP4K4, MAPRE3, MARCHF4, KLHL23, KLHL29, KLHL30, LAPTM4A, LBH, LBX2, LCLAT1, INPP1, INPP4A, ING5, INHA, INHBB, INO80B, LCT, LDAH, LGALSL, LHCGR, KLHL41, KRCC1, KRTCAP3, KYNU, HJURP, HOXD11, HOXD12, HPCAL1, HS1BP3, HS6ST1, HSPD1, HNRNPA3, HK2, HNMT, HNRNPLL, HOXD1, HOXD10, LANCL1, IL37, ILKAP, INO80D, IMMT, IMP4, GALNT14, GALNT3, GDF7, GEMIN6, GKN2, GLB1L, GPAT2, GPATCH11, FAM168B, FAM171B, GALNT5, FAM178B, FAM228A, GAREM2, GBX2, GCA, GCC2, GCFC2, GCG, GCKR, INSIG2, IQCA1, FAM136A, FAM161A, FAM228B, FAM98A, EFEMP1, EFHD1, EFR3B, EGR4, EHBP1, EHD3, EIF2AK2, EIF2AK3, EIF2B4, E2F6, ECEL1, ECRG4, EDAR, EEF1B2, FANCL, FAP, FARP2, FARSB, FASTKD1, FASTKD2, CYS1, DBI, DCAF17, DCDC2C, DCTN1, DDX1, DDX18, COPS7B, COPS8, CNGA3, CNNM3, CNNM4, CNOT11, DES, CYTIP, D2HGDH, DAPL1, DARS1, DAW1, CMKLR2, CMPK2, CDC42EP3, CDCA7, CDKL4, CDRT15P3, CCT7, CD207, CD8A, CD8B, CDK15, CDK5R2, CD28, CNOT9, CNPPD1, CNRIP1, CNTNAP5, C2orf76, C2orf78, C2orf80, C2orf81, C2orf68, C2orf69, C2orf72, C2orf73, C2orf74, COA5, COBLL1, COLEC11, COMMD1, CCNYL1, CCT4, WIPF1, XIRP2, XPO1, XRCC5, WNT10A, WNT6, XDH, YIPF4, YPEL5, YWHAQ, C2orf15, C1D, C1QL2, C2CD6, ANTXR1, ANXA4, AOX1, AP1S3, APLF, ARPC2, ASAP2, ANKRD39, ANKRD44, ANKRD53, ANKRD36, ANKRD36B, ANKRD36C, ANKZF1, ANO7, ACKR3, ACMSD, ACOXL, ACP1, ACSL3, ACTG2, ACTR1B, ACTR2, ABCG5, ABCG8, ABHD1, ABI2, ACADL, AAK1, AAMP, ACTR3, ACVR1, ACVR1C, ACVR2A, ACYP2, ADAM17, ADAM23, ADCY3, ADD2, ADGRF3, ADI1, ADRA2B, AFF3, AFTPH, AGAP1, AGBL5, AGFG1, AGPS, AGXT, ALK, ALKAL2, ALLC, ALMS1, ALPG, ALPI, ALPP, ALS2, AMER3, AMMECR1L, ANAPC1, APOB, AQP12A, AQP12B, ARHGAP15, ARHGAP25, ARHGEF33, ARHGEF4, ARID5A, ARL4C, ARL5A, ARL6IP6, ARMC9, ASB1, ASB18, ASB3, ASIC4, ASNSD1, ASPRV1, ASTL, ASXL2, ATAD2B, ATF2, ATG16L1, ATG4B, ATG9A, ATIC, ATL2, ATOH8, ATP5MC3, ATP6V1B1, ATP6V1C2, ATP6V1E2, ATRAID, AUP1, B3GALT1, B3GNT2, B3GNT7, BABAM2, BARD1, BAZ2B, BBS5, BCL11A, BCL2L11, BCS1L, BCYRN1, BIN1, BMPR2, BOK, BOLA3, BOLL, BUB1, BZW1, ZAP70, ZC3H15, ZC3H6, ZC3H8, ZDBF2, ZNF512, ZEB2, ZFAND2B, ZFP36L2, ZNF142, ZNF2, ZNF385B, ZNF513, ZNF514, ZNF638, ZNF804A, ZNF806, ZNG1B, ZRANB3, ZSWIM2, CD302, C2orf66, C2orf27A, C2orf42, C2orf48, C2orf49, C2orf50, C2orf83, C2orf88, CAB39, CACNB4, CAD, CALCRL, CALM2, CAMKMT, CAPG, CAPN10, CAPN13, CAPN14, CARF, CASP10, CASP8, CATIP, CAVIN2, CCDC115, CCDC121, CCDC138, CCDC140, CCDC141, CCDC142, CCDC148, CCDC150, CCDC74A, CCDC74B, CCDC85A, CCDC88A, CCDC93, CEBPZ, CENPA, CENPO, CEP68, CERKL, CERS6, CFAP210, CFAP36, CFAP65, CFC1, CFC1B, CFLAR, CGREF1, CHAC2, CHCHD5, CHMP3, CHN1, CHPF, CHRNA1, CHRND, CHRNG, CHST10, CIAO1, CIB4, CIMIP2C, CIR1, CKAP2L, CLASP1, CLEC4F, CLHC1, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COPS9, COQ10B, COX5B, COX7A2L, CPO, CPS1, CPSF3, CRACDL, CREB1, CREG2, CRIM1, CRIPT, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CSRNP3, CTDSP1, CTLA4, CTNNA2, CUL3, CWC22, CXCR1, CXCR2, CXCR4, CYBRD1, CYP1B1, CYP20A1, CYP26B1, DGKD, DGUOK, DHRS9, DHX57, DIRC1, DIRC3, DIS3L2, DLX1, DLX2, DNAAF10, DNAH6, DNAH7, DNAJB2, DNAJB3, DNAJC10, DNAJC27, DNAJC5G, DNER, DNMT3A, DNPEP, DOCK10, DOK1, DPP10, DPP4, DPY30, DPYSL5, DQX1, DRC1, DTNB, DTYMK, DUSP11, DUSP19, DUSP2, DUSP28, DYNC1I2, EIF4E2, EIF5B, EIPR1, ELMOD3, EMILIN1, EML4, EML6, EMX1, EN1, EPAS1, EPB41L5, EPC2, EPCAM, EPHA4, ERBB4, ERCC3, ERFE, ERICH2, ERLEC1, ERMN, ESPNL, ETAA1, EVA1A, EVX2, EXOC6B, FABP1, FAHD2A, FAHD2B, FAM110C, FAM117B, FBLN7, FBXO11, FBXO36, FBXO41, FBXO48, FER1L5, FEV, FEZ2, FHL2, FIGLA, FIGN, FKBP1B, FKBP7, FLACC1, FMNL2, FN1, FNDC4, FOSL2, FOXD4L1, FOXI3, FOXN2, FRZB, FSHR, FSIP2, FTCDNL1, FZD5, FZD7, G6PC2, GAD1, GAL3ST2, GEN1, GFPT1, GGCX, GIGYF2, GKN1, GLI2, GLS, GMCL1, GMPPA, GNLY, GORASP2, GPBAR1, GPC1, GPD2, GPN1, GPR148, GPR155, GPR17, GPR35, GPR39, GPR45, GPR55, GPR75, GPR75-ASB3, GRB14, GREB1, GRHL1, GTDC1, GTF2A1L, GTF3C2, GTF3C3, GULP1, GYPC, HAAO, HADHA, HADHB, HAT1, HDAC4, HDLBP, HEATR5B, HECW2, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, HSPE1, HTR2B, HTRA2, HYCC2, IAH1, ICA1L, ICOS, ID2, IDH1, IFIH1, IFT172, IFT70A, IFT70B, IGFBP2, IGFBP5, IGKC, IHH, IKZF2, IL18R1, IL18RAP, IL1A, IL1B, IL1F10, IL1R1, IL1R2, IL1RL1, IL1RL2, IL1RN, IL36A, IL36B, IRS1, ITGA4, ITGA6, ITGAV, ITGB1BP1, ITGB6, ITM2C, ITPRID2, ITPRIPL1, ITSN2, IWS1, KANSL1L, KANSL3, KCMF1, KCNE4, KCNF1, KCNG3, KCNH7, KCNIP3, KCNJ13, KCNJ3, KCNK12, KCNK3, KCNS3, KCTD18, KDM3A, KHK, KIDINS220, KIF1A, KIF3C, LIMS1, LIMS2, LIMS3, LIMS4, LINC00570, LINC01873, LINC02898, LIPT1, LMAN2L, LNPK, LONRF2, LOXL3, LPIN1, LRATD1, LRP1B, LRP2, LRPPRC, LRRFIP1, LRRTM1, LRRTM4, LTBP1, LY75, LY75-CD302, LYG1, LYG2, LYPD1, LYPD6, LYPD6B, M1AP, MAB21L4, MATN3, MBD5, MBOAT2, MCEE, MCFD2, MDH1, MDH1B, MEIS1, MEMO1, MERTK, METAP1D, METTL21A, METTL5, METTL8, MFF, MFSD2B, MFSD6, MFSD9, MGAT4A, MGAT5, MIR10B, MIR1258, MIR128-1, MIR149, MIR216A, MIR217, MIR26B, MIR375, MITD1, MLPH, MMADHC, MOB1A, MSH2, MSH2-OT1, MSH6, MSTN, MTA3, MTERF4, MTHFD2, MTIF2, MTX2, MXD1, MYCN, MYCNOS, MYL1, MYO1B, MYO3B, MYO7B, MYT1L, MZT2A, MZT2B, NAB1, NABP1, NAGK, NAT8, NAT8B, NBAS, NBEAL1, NCAPH, NCK2, NCKAP1, NCKAP5, NCL, NCOA1, NDUFA10, NDUFAF7, NDUFB3, NMS, NMUR1, NOL10, NOP58, NOSTRIN, NOTO, NPAS2, NPHP1, NPPC, NR4A2, NRBP1, NRP2, NRXN1, NT5C1B, NT5C1B-RDH14, NT5DC4, NTSR2, NUP35, NXPH2, NYAP2, OBSL1, ODC1, OLA1, OR6B2, OR6B3, ORC2, ORC4, ORMDL1, OSBPL6, OSGEPL1, OSR1, OST4, OTOF, OTOS, OTX1, OXER1, PAX3, PAX8, PCARE, PCBP1, PCGEM1, PHOSPHO2, PID1, PIGF, PIKFYVE, PJVK, PKDCC, PKP4, PLA2R1, PLB1, PLCD4, PLCL1, PLEK, PLEKHA3, PLEKHB2, PLEKHH2, PLEKHM3, PLGLB1, PMS1, PNKD, PNO1, PNPT1, POLE4, POLR1A, POLR1B, POLR2D, POMC, POTEE, POTEF, POTEI, POTEJ, PPP3R1, PPP4R3B, PRADC1, PREB, PREPL, PRKAG3, PRKCE, PRKD3, PRKRA, PRLH, PROC, PROKR1, PROM2, PRPF40A, PRR21, PRR30, PRSS56, PSD4, PSMD1, PSMD14, PSME4, PTCD3, PTH2R, PTMA, PTPN18, PTPN4, PTPRN, PTRHD1, PUM2, PUS10, PXDN, QPCT, R3HDM1, RAB10, RAB11FIP5, RAB17, RAB1A, RAB3GAP1, RAB6C, RABL2A, RAD51AP2, RALB, RAMP1, RANBP2, RAPGEF4, RAPH1, RASGRP3, RBKS, RBM43, RBM44, RBM45, RBMS1, RDH14, REEP1, REG1A, REG1B, REG3A, REG3G, REL, RESP18, RETREG2, RETSAT, REV1, RFTN2, RFX8, RGPD1, RGPD2, RGPD3, RGPD4, RGPD5, RGPD6, RGPD8, RHBDD1, RHOB, RHOQ, RIF1, RMDN2, RMND5A, RNASEH1, RND3, RNF103, RNF103-CHMP3, RNF144A, RNF149, RNF181, RNF25, RNPEPL1, RNU4ATAC, ROCK2, RPE, RPIA, RPL31, RPL37A, RPRM, RPS27A, RPS7, RRM2, RSAD2, RTKN, RTN4, RTP5, RUFY4, SAG, SANBR, SAP130, SATB2, SCG2, SCLY, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3, SCTR, SDC1, SELENOI, SEMA4C, SEMA4F, SEPTIN10, SEPTIN2, SERPINE2, SERTAD2, SESTD1, SF3B1, SF3B6, SFT2D3, SFTPB, SFXN5, SGO2, SGPP2, SH2D6, SH3BP4, SH3YL1, SIX2, SIX3, SLC11A1, SLC16A14, SLC19A3, SLC1A4, SLC20A1, SLC23A3, SLC25A12, SLC30A3, SLC30A6, SLC35F5, SLC35F6, SLC38A11, SLC39A10, SLC3A1, SLC40A1, SLC4A10, SLC4A1AP, SLC4A3, SLC4A5, SLC5A6, SLC5A7, SLC66A3, SLC8A1, SLC9A2, SLC9A4, SMARCAL1, SMC6, SMPD4, SMYD1, SMYD5, SNED1, SNORC, SNORD20, SNORD82, SNRNP200, SNRNP27, SNRPG, SNTG2, SNX17, SOCS5, SOS1, SOS1-IT1, SOWAHC, SOX11, SP100, SP110, SP140, SP140L, SP3, SP5, SP9, SPAG16, SPAST, SPATA3, SPATA31H1, SPATS2L, SPC25, SPDYA, SPEG, SPHKAP, SPMIP9, SPOPL, SPP2, SPR, SPRED2, SPTBN1, SRBD1, SRD5A2, SRSF7, SSB, ST3GAL5, ST6GAL2, STAM2, STAMBP, STARD7, STAT1, STAT4, STEAP3, STK11IP, STK16, STK17B, STK25, STK36, STK39, STON1, STON1-GTF2A1L, STPG4, STRADB, STRN, SUCLG1, SULT1C2, SULT1C3, SULT1C4, SULT6B1, SUMO1, SUPT7L, TACR1, TAF1B, TANC1, TANK, TBC1D8, TBR1, TCF23, TCF7L1, TDRD15, TEKT4, TET3, TEX261, TEX44, TFCP2L1, TFPI, TGFA, TGFBRAP1, TGOLN2, THADA, THAP4, THNSL2, THSD7B, THUMPD2, TIA1, TIGD1, TLK1, TLX2, TM4SF20, TMBIM1, TMEFF2, TMEM127, TMEM131, TMEM150A, TMEM163, TMEM169, TMEM17, TMEM177, TMEM178A, TMEM18, TMEM182, TMEM185B, TMEM198, TMEM214, TMEM237, TMEM247, TMEM37, TMEM87B, TMSB10, TNFAIP6, TNP1, TNS1, TOGARAM2, TP53I3, TPO, TPRKB, TRABD2A, TRAF3IP1, TRAK2, TRAPPC12, TRIB2, TRIM43, TRIM43B, TRIM54, TRIP12, TRMT61B, TRPM8, TSGA10, TSN, TSPYL6, TTC21B, TTC27, TTC31, TTC32, TTC7A, TTL, TTLL4, TTN, TUBA3D, TUBA3E, TUBA4A, TWIST2, TXNDC9, TYW5, UBE2E3, UBE2F, UBR3, UBXN2A, UBXN4, UCN, UGGT1, UGP2, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UNC50, UNC80, UPP2, USP34, USP37, USP39, USP40, UXS1, VAMP5, VAMP8, VAX2, VIL1, VIT, VPS54, VRK2, VSNL1, VWA3B, VWC2L, WBP1, WDCP, WDFY1, WDPCP, WDR12, WDR33, WDR35, WDR43, WDR54, WDR75, WDSUB1 | | Mosaic trisomy 2 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:112475655-145691999
| EPB41L5, ERCC3, NT5DC4, NXPH2, POTEI, POTEJ, R3HDM1, RAB3GAP1, RAB6C, SLC35F5, SMPD4, SPOPL, SFT2D3, SLC20A1, PROC, PSD4, PTPN18, PTPN4, GTDC1, GYPC, HNMT, HS6ST1, IL1A, IL1B, IL36A, IL36B, IL1F10, IL1RN, FAM168B, FBLN7, FOXD4L1, GLI2, ACMSD, ACTR3, AMER3, AMMECR1L, ANAPC1, ARHGAP15, ARHGEF4, BIN1, C1QL2, C2orf27A, C2orf76, CCDC115, CCDC74A, CCDC74B, CCDC93, CCNT2, CDRT15P3, CFC1, CFC1B, CHCHD5, CKAP2L, CLASP1, CNTNAP5, CXCR4, CYP27C1, DARS1, DBI, DDX18, DPP10, EN1, GPR148, GPR17, GPR39, IL36G, IL36RN, IL37, IMP4, INHBB, INSIG2, IWS1, KYNU, LCT, LIMS2, LRP1B, LYPD1, MAP3K19, MAP3K2, MARCO, MCM6, MERTK, MGAT5, MIR128-1, MYO7B, MZT2A, MZT2B, NCKAP5, NIFK, PAX8, PLEKHB2, POLR1B, POLR2D, POTEE, POTEF, RABL2A, RALB, RGPD8, RNU4ATAC, SAP130, SCTR, STEAP3, TFCP2L1, THSD7B, TMEM163, TMEM177, TMEM185B, TMEM37, TMEM87B, TSN, TTL, TUBA3D, TUBA3E, UBXN4, UGGT1, WDR33, ZC3H6, ZC3H8, ZEB2, ZNF806, ZNG1B, ZRANB3 | | 2q13q22.3 microduplication syndrome | Pathogenic (Feb 28, 2022) | no assertion criteria provided |