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Items: 1 to 100 of 112

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Oct 1, 2010)
no assertion criteria provided
2.
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 casesPathogenic
(May 6, 2011)
no assertion criteria provided
3.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr2:123081919-129129278
GRCh38:
Chr2:122324343-128371704
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
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 casesLikely pathogenic
(Apr 27, 2011)
no assertion criteria provided
6.
GRCh37:
Chr2:123927565-129217649
GRCh38:
Chr2:123169989-128460075
See casesPathogenic
(Jul 30, 2009)
no assertion criteria provided
7.
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 casesPathogenic
(Oct 1, 2010)
no assertion criteria provided
8.
GRCh38:
Chr2:124348648-129410245
See casesnot providedno assertion provided
9.
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 casesUncertain significance
(May 7, 2012)
no assertion criteria provided
10.
GRCh37:
Chr2:128719039-129389215
GRCh38:
Chr2:127961465-128631641
See casesLikely benign
(Jan 14, 2011)
no assertion criteria provided
11.
GRCh38:
Chr2:128262169-128275055
HS6ST1, LOC121725102Hypogonadotropic hypogonadism 15 with or without anosmiaUncertain significance
(May 25, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr2:129025396
GRCh38:
Chr2:128267822
HS6ST1not providedLikely benign
(Nov 20, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr2:129025404
GRCh38:
Chr2:128267830
HS6ST1not providedBenign
(Oct 24, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr2:129025468
GRCh38:
Chr2:128267894
HS6ST1not providedLikely benign
(Apr 24, 2019)
criteria provided, single submitter
15.
GRCh37:
Chr2:129025619
GRCh38:
Chr2:128268045
HS6ST1not providedBenign
(Oct 21, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr2:129025705
GRCh38:
Chr2:128268131
HS6ST1not providedBenign
(Aug 30, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr2:129025754
GRCh38:
Chr2:128268180
HS6ST1H406Qnot providedUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr2:129025759
GRCh38:
Chr2:128268185
HS6ST1S405Gnot providedUncertain significance
(Jan 14, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr2:129025762
GRCh38:
Chr2:128268188
HS6ST1M404VHypogonadotropic hypogonadism 15 with anosmiarisk factor
(Jul 12, 2011)
no assertion criteria provided
20.
GRCh37:
Chr2:129025771
GRCh38:
Chr2:128268197
HS6ST1E401KInborn genetic diseasesUncertain significance
(Oct 26, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr2:129025778
GRCh38:
Chr2:128268204
HS6ST1Hypogonadotropic hypogonadismUncertain significance
(Jun 23, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr2:129025788
GRCh38:
Chr2:128268214
HS6ST1P395LInborn genetic diseases, not providedUncertain significance
(Jul 25, 2023)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr2:129025795
GRCh38:
Chr2:128268221
HS6ST1D393Nnot providedBenign
(Sep 19, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr2:129025827
GRCh38:
Chr2:128268253
HS6ST1R382QInborn genetic diseasesUncertain significance
(Dec 13, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr2:129025828
GRCh38:
Chr2:128268254
HS6ST1R382WHypogonadotropic 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
26.
GRCh37:
Chr2:129025839
GRCh38:
Chr2:128268265
HS6ST1R378HInborn genetic diseasesUncertain significance
(Mar 7, 2023)
criteria provided, single submitter
27.
GRCh37:
Chr2:129025847
GRCh38:
Chr2:128268273
HS6ST1not providedLikely benign
(Jul 12, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr2:129025848
GRCh38:
Chr2:128268274
HS6ST1R375Hnot providedUncertain significance
(Feb 7, 2023)
criteria provided, single submitter
29.
GRCh37:
Chr2:129025849
GRCh38:
Chr2:128268275
HS6ST1R375CInborn genetic diseasesUncertain significance
(Oct 27, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr2:129025851
GRCh38:
Chr2:128268277
HS6ST1S374Nnot specified, not providedConflicting interpretations of pathogenicity
(Feb 27, 2023)
criteria provided, conflicting interpretations
31.
GRCh37:
Chr2:129025860
GRCh38:
Chr2:128268286
HS6ST1R371HHypogonadotropic hypogonadism 7 with or without anosmiaLikely benign
(May 28, 2019)
criteria provided, single submitter
32.
GRCh37:
Chr2:129025861
GRCh38:
Chr2:128268287
HS6ST1R371CInborn genetic diseasesUncertain significance
(Jun 22, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr2:129025895
GRCh38:
Chr2:128268321
HS6ST1not providedUncertain significance
(Dec 16, 2019)
criteria provided, single submitter
34.
GRCh37:
Chr2:129025922
GRCh38:
Chr2:128268348
HS6ST1not providedLikely benign
(Jun 1, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr2:129025955
GRCh38:
Chr2:128268381
HS6ST1E339Dnot providedUncertain significance
(Jan 10, 2020)
criteria provided, single submitter
36.
GRCh37:
Chr2:129025960
GRCh38:
Chr2:128268386
HS6ST1E338Knot providedUncertain significance
(Oct 24, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr2:129025968
GRCh38:
Chr2:128268394
HS6ST1R335QInborn genetic diseasesUncertain significance
(Dec 13, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr2:129026004
GRCh38:
Chr2:128268430
HS6ST1R323QHypogonadotropic hypogonadism 15 with anosmiarisk factor
(Jul 12, 2011)
no assertion criteria provided
39.
GRCh37:
Chr2:129026017
GRCh38:
Chr2:128268443
HS6ST1Y319NHypogonadotropic hypogonadism 15 with or without anosmiaUncertain significance
(Oct 4, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr2:129026052
GRCh38:
Chr2:128268478
HS6ST1T307Mnot providedUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr2:129026055
GRCh38:
Chr2:128268481
HS6ST1R306Qnot specified, not providedUncertain significance
(May 1, 2023)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr2:129026056
GRCh38:
Chr2:128268482
HS6ST1R306WHypogonadotropic hypogonadism 15 with anosmiarisk factor
(May 2, 2013)
no assertion criteria provided
43.
GRCh37:
Chr2:129026060
GRCh38:
Chr2:128268486
HS6ST1not providedLikely benign
(Sep 13, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr2:129026090
GRCh38:
Chr2:128268516
HS6ST1not providedLikely benign
(Aug 1, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr2:129026093
GRCh38:
Chr2:128268519
HS6ST1not providedLikely benign
(Oct 17, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr2:129026099
GRCh38:
Chr2:128268525
HS6ST1not providedBenign
(Jul 13, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr2:129026115
GRCh38:
Chr2:128268541
HS6ST1R286Qnot specifiedUncertain significance
(Dec 21, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr2:129026124
GRCh38:
Chr2:128268550
HS6ST1K283Rnot providedUncertain significance
(Dec 1, 2021)
criteria provided, single submitter
49.
GRCh37:
Chr2:129026144
GRCh38:
Chr2:128268570
HS6ST1not providedBenign
(Oct 25, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr2:129026165
GRCh38:
Chr2:128268591
HS6ST1not providedLikely benign
(Dec 19, 2021)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr2:129026207
GRCh38:
Chr2:128268633
HS6ST1not providedLikely benign
(Jan 17, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr2:129026226
GRCh38:
Chr2:128268652
HS6ST1R249HInborn genetic diseasesUncertain significance
(Apr 18, 2023)
criteria provided, single submitter
53.
GRCh37:
Chr2:129026227
GRCh38:
Chr2:128268653
HS6ST1R249SHypogonadotropic 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
54.
GRCh37:
Chr2:129026240
GRCh38:
Chr2:128268666
HS6ST1not providedLikely benign
(Jun 20, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr2:129026247
GRCh38:
Chr2:128268673
HS6ST1P242Lnot providedUncertain significance
(Jul 11, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr2:129026249
GRCh38:
Chr2:128268675
HS6ST1not providedLikely benign
(Oct 31, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr2:129026270
GRCh38:
Chr2:128268696
HS6ST1not providedBenign/Likely benign
(Oct 1, 2023)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr2:129026297
GRCh38:
Chr2:128268723
HS6ST1not providedBenign
(Aug 23, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr2:129026320
GRCh38:
Chr2:128268746
HS6ST1P218Snot provided, not specifiedConflicting interpretations of pathogenicity
(Sep 23, 2022)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr2:129026331
GRCh38:
Chr2:128268757
HS6ST1R214HInborn genetic diseasesUncertain significance
(Jul 19, 2023)
criteria provided, single submitter
61.
GRCh37:
Chr2:129026380
GRCh38:
Chr2:128268806
HS6ST1V198Mnot providedUncertain significance
(Sep 13, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr2:129026411
GRCh38:
Chr2:128268837
HS6ST1not providedBenign/Likely benign
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr2:129026456
GRCh38:
Chr2:128268882
HS6ST1not providedLikely benign
(May 10, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr2:129026457
GRCh38:
Chr2:128268883
HS6ST1not providedBenign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr2:129026512
GRCh38:
Chr2:128268938
HS6ST1not providedLikely benign
(Jul 22, 2019)
criteria provided, single submitter
66.
GRCh37:
Chr2:129026622
GRCh38:
Chr2:128269048
HS6ST1not providedBenign
(Nov 27, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr2:129026718
GRCh38:
Chr2:128269144
HS6ST1not providedLikely benign
(Jul 3, 2019)
criteria provided, single submitter
68.
GRCh37:
Chr2:129026749
GRCh38:
Chr2:128269175
HS6ST1not providedBenign
(Aug 9, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr2:129026777
GRCh38:
Chr2:128269203
HS6ST1not providedBenign
(Aug 30, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr2:129075342
GRCh38:
Chr2:128317768
HS6ST1not providedBenign
(May 20, 2019)
criteria provided, single submitter
71.
GRCh37:
Chr2:129075508
GRCh38:
Chr2:128317934
HS6ST1, LOC129934748not providedLikely benign
(Apr 16, 2019)
criteria provided, single submitter
72.
GRCh37:
Chr2:129075720
GRCh38:
Chr2:128318146
HS6ST1R140Gnot providedUncertain significance
(May 26, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr2:129075790
GRCh38:
Chr2:128318216
HS6ST1not providedLikely benign
(Sep 3, 2020)
criteria provided, single submitter
74.
GRCh37:
Chr2:129075794
GRCh38:
Chr2:128318220
HS6ST1P115Qnot provided, Inborn genetic diseasesUncertain significance
(Mar 16, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr2:129075802
GRCh38:
Chr2:128318228
HS6ST1not providedBenign
(Sep 7, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr2:129075877
GRCh38:
Chr2:128318303
HS6ST1D87EHypogonadotropic hypogonadism 7 with or without anosmiaLikely benign
(May 28, 2019)
criteria provided, single submitter
77.
GRCh37:
Chr2:129075904
GRCh38:
Chr2:128318330
HS6ST1not providedLikely benign
(Jul 5, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr2:129075905
GRCh38:
Chr2:128318331
HS6ST1S78Lnot specifiedUncertain significance
(Nov 20, 2015)
criteria provided, single submitter
79.
GRCh37:
Chr2:129075932
GRCh38:
Chr2:128318358
HS6ST1Y69Cnot providedUncertain significance
(Jul 28, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr2:129075951
GRCh38:
Chr2:128318377
HS6ST1H63Dnot providedLikely benign
(Jul 21, 2019)
criteria provided, single submitter
81.
GRCh37:
Chr2:129075960
GRCh38:
Chr2:128318386
HS6ST1P60SInborn genetic diseasesUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr2:129075961
GRCh38:
Chr2:128318387
HS6ST1not providedBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr2:129076016
GRCh38:
Chr2:128318442
HS6ST1S41Inot providedUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr2:129076016
GRCh38:
Chr2:128318442
HS6ST1S41Tnot providedBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr2:129076022
GRCh38:
Chr2:128318448
HS6ST1G39AInborn genetic diseasesUncertain significance
(Apr 7, 2023)
criteria provided, single submitter
86.
GRCh37:
Chr2:129076050
GRCh38:
Chr2:128318476
HS6ST1L30FInborn genetic diseasesUncertain significance
(Aug 4, 2023)
criteria provided, single submitter
87.
GRCh37:
Chr2:129076063
GRCh38:
Chr2:128318489
HS6ST1not providedBenign
(Oct 5, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr2:129076078
GRCh38:
Chr2:128318504
HS6ST1not providedBenign
(Oct 17, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr2:129076097
GRCh38:
Chr2:128318523
HS6ST1R14Pnot providedUncertain significance
(Dec 3, 2019)
criteria provided, single submitter
90.
GRCh37:
Chr2:129076123-129076124
GRCh38:
Chr2:128318549-128318550
HS6ST1not providedUncertain significance
(Aug 21, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr2:129076137
GRCh38:
Chr2:128318563
HS6ST1M1Vnot providedUncertain significance
(Dec 20, 2019)
criteria provided, single submitter
92.
GRCh37:
Chr2:129076195
GRCh38:
Chr2:128318621
HS6ST1not providedLikely benign
(Nov 12, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr2:129076387
GRCh38:
Chr2:128318813
HS6ST1, LOC129934749not providedBenign
(Oct 2, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr2:129076396
GRCh38:
Chr2:128318822
LOC129934749, HS6ST1not providedBenign
(Aug 30, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr2:129076418
GRCh38:
Chr2:128318844
HS6ST1, LOC129934749not providedBenign
(May 20, 2019)
criteria provided, single submitter
96.
GRCh37:
Chr2:129025736-129026464
HS6ST1not providedUncertain significance
(Oct 31, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr2:127806102-129076137
Thrombophilia due to protein C deficiency, autosomal dominantPathogenic
(Jun 8, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr2:127451420-129076137
not providedPathogenic
(Dec 20, 2021)
criteria provided, single submitter
99.
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 2Pathogenicno assertion criteria provided
100.
GRCh37:
Chr2:112475655-145691999
2q13q22.3 microduplication syndromePathogenic
(Feb 28, 2022)
no assertion criteria provided
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