| - 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:
- Chr2:119445405-122379390
- GRCh38:
- Chr2:118687829-121621814
| C1QL2, C2orf76, CFAP221, CLASP1, DBI, EN1, EPB41L5, GLI2, INHBB, LINC01101, LINC01956, LOC110120692, LOC110121228, LOC112806043, LOC112806044, LOC115945186, LOC115945187, LOC120961781, LOC120961782, LOC122819145, LOC122819146, LOC122819147, LOC122819148, LOC126806326, LOC126806327, LOC126806328, LOC126806329, LOC126806330, LOC126806331, LOC126806332, LOC126806333, LOC126806334, LOC126806335, LOC126806336, LOC126806337, LOC129388903, LOC129388904, 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, LOC132088751, MARCO, PTPN4, RALB, RNU4ATAC, SCTR, SCTR-AS1, STEAP3, STEAP3-AS1, TFCP2L1, TMEM177, TMEM185B, TMEM37 | | See cases | Pathogenic
(Mar 10, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr2:122135169
- GRCh38:
- Chr2:121377593
| CLASP1, RNU4ATAC | R1124H, R1151H, R1183H, R1204H, R1115H, R1122H, R1116H | Inborn genetic diseases | Uncertain significance
(Jun 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122217658
- GRCh38:
- Chr2:121460082
| CLASP1, RNU4ATAC | Y359C | Inborn genetic diseases | Uncertain significance
(Jul 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288193
- GRCh38:
- Chr2:121530617
| CLASP1, RNU4ATAC | | not provided | Likely benign
(Jul 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288213
- GRCh38:
- Chr2:121530637
| CLASP1, RNU4ATAC | | not provided | Benign
(Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288257
- GRCh38:
- Chr2:121530681
| CLASP1, RNU4ATAC | | not provided | Likely benign
(Jul 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288407
- GRCh38:
- Chr2:121530831
| CLASP1, RNU4ATAC | | not provided | Benign
(Jul 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288415
- GRCh38:
- Chr2:121530839
| CLASP1, RNU4ATAC | | not provided | Benign
(Jul 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288445
- GRCh38:
- Chr2:121530869
| CLASP1, RNU4ATAC | | not provided | Benign
(Jul 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288456
- GRCh38:
- Chr2:121530880
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Apr 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288457
- GRCh38:
- Chr2:121530881
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288457
- GRCh38:
- Chr2:121530881
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Nov 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288458
- GRCh38:
- Chr2:121530882
| RNU4ATAC, CLASP1 | | not provided | Uncertain significance
(Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288458
- GRCh38:
- Chr2:121530882
| RNU4ATAC, CLASP1 | | not provided | Uncertain significance
(Apr 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288459
- GRCh38:
- Chr2:121530883
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288460
- GRCh38:
- Chr2:121530884
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(May 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288460
- GRCh38:
- Chr2:121530884
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288460
- GRCh38:
- Chr2:121530884
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Jun 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288461-122288462
- GRCh38:
- Chr2:121530885-121530886
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Jan 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288461
- GRCh38:
- Chr2:121530885
| CLASP1, RNU4ATAC | | RNU4ATAC-related spliceosomopathies, not provided | Conflicting interpretations of pathogenicity
(Jun 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:122288462
- GRCh38:
- Chr2:121530886
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288463
- GRCh38:
- Chr2:121530887
| CLASP1, RNU4ATAC | | not provided, Roifman syndrome | Conflicting interpretations of pathogenicity
(May 2, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:122288463
- GRCh38:
- Chr2:121530887
| RNU4ATAC, CLASP1 | | Lowry-Wood syndrome | Likely pathogenic
(Jul 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288463
- GRCh38:
- Chr2:121530887
| CLASP1, RNU4ATAC | | not provided, RNU4ATAC-related condition, Neurodevelopmental delay,
Short stature, Craniosynostosis syndrome, Cardiomyopathy,
Microcephaly, not specified, Spondyloepiphyseal dysplasia congenita
| Conflicting interpretations of pathogenicity
(Jan 18, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:122288465
- GRCh38:
- Chr2:121530889
| RNU4ATAC, CLASP1 | | not provided | Uncertain significance
(Jan 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288466-122288467
- GRCh38:
- Chr2:121530890-121530891
| RNU4ATAC, CLASP1 | | not provided | Uncertain significance
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288466
- GRCh38:
- Chr2:121530890
| RNU4ATAC, CLASP1 | | not provided | Uncertain significance
(Sep 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288466
- GRCh38:
- Chr2:121530890
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Feb 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288466-122288468
- GRCh38:
- Chr2:121530890-121530892
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Nov 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288467
- GRCh38:
- Chr2:121530891
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288467
- GRCh38:
- Chr2:121530891
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288467
- GRCh38:
- Chr2:121530891
| RNU4ATAC, CLASP1 | | not provided | Uncertain significance
(Jun 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288468
- GRCh38:
- Chr2:121530892
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288468
- GRCh38:
- Chr2:121530892
| CLASP1, RNU4ATAC | | Roifman syndrome, RNU4ATAC-related condition, not provided,
Roifman syndrome, Osteodysplastic primordial dwarfism, type 1, Lowry-Wood syndrome
| Conflicting interpretations of pathogenicity
(Sep 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:122288469
- GRCh38:
- Chr2:121530893
| RNU4ATAC, CLASP1 | | not provided | Uncertain significance
(Sep 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288470-122288471
- GRCh38:
- Chr2:121530894-121530895
| RNU4ATAC, CLASP1 | | not provided | Uncertain significance
(Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288470
- GRCh38:
- Chr2:121530894
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Sep 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288470
- GRCh38:
- Chr2:121530894
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288471
- GRCh38:
- Chr2:121530895
| RNU4ATAC, CLASP1 | | not provided | Uncertain significance
(Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288471
- GRCh38:
- Chr2:121530895
| CLASP1, RNU4ATAC | | Intellectual disability, Short stature, Roifman syndrome,
Lowry-Wood syndrome, Osteodysplastic primordial dwarfism, type 1, Roifman syndrome,
not provided | Pathogenic/Likely pathogenic
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:122288472
- GRCh38:
- Chr2:121530896
| CLASP1, RNU4ATAC | | not provided, RNU4ATAC-related condition, Roifman syndrome
| Conflicting interpretations of pathogenicity
(May 2, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:122288472
- GRCh38:
- Chr2:121530896
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288473
- GRCh38:
- Chr2:121530897
| CLASP1, RNU4ATAC | | Roifman syndrome, not provided | Conflicting interpretations of pathogenicity
(Dec 18, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:122288474
- GRCh38:
- Chr2:121530898
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288476
- GRCh38:
- Chr2:121530900
| RNU4ATAC, CLASP1 | | not provided | Uncertain significance
(Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288476
- GRCh38:
- Chr2:121530900
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Feb 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288476
- GRCh38:
- Chr2:121530900
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Jan 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288477
- GRCh38:
- Chr2:121530901
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(May 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288477
- GRCh38:
- Chr2:121530901
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288478
- GRCh38:
- Chr2:121530902
| CLASP1, RNU4ATAC | | not provided | Likely benign
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:122288479
- GRCh38:
- Chr2:121530903
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Oct 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288479
- GRCh38:
- Chr2:121530903
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288480
- GRCh38:
- Chr2:121530904
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288480
- GRCh38:
- Chr2:121530904
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288481-122288482
- GRCh38:
- Chr2:121530905-121530906
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288481
- GRCh38:
- Chr2:121530905
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288482
- GRCh38:
- Chr2:121530906
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288483
- GRCh38:
- Chr2:121530907
| RNU4ATAC, CLASP1 | | not provided | Uncertain significance
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288484
- GRCh38:
- Chr2:121530908
| RNU4ATAC, CLASP1 | | not provided | Uncertain significance
(Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288484
- GRCh38:
- Chr2:121530908
| RNU4ATAC, CLASP1 | | Osteodysplastic primordial dwarfism, type 1 | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:122288485
- GRCh38:
- Chr2:121530909
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288485
- GRCh38:
- Chr2:121530909
| CLASP1, RNU4ATAC | | not provided, Osteodysplastic primordial dwarfism, type 1 | Likely pathogenic
(Jul 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:122288486
- GRCh38:
- Chr2:121530910
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288487
- GRCh38:
- Chr2:121530911
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Oct 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288487
- GRCh38:
- Chr2:121530911
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288488
- GRCh38:
- Chr2:121530912
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Sep 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288489
- GRCh38:
- Chr2:121530913
| RNU4ATAC, CLASP1 | | not provided | Uncertain significance
(Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288490
- GRCh38:
- Chr2:121530914
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288491
- GRCh38:
- Chr2:121530915
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288491
- GRCh38:
- Chr2:121530915
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288492
- GRCh38:
- Chr2:121530916
| CLASP1, RNU4ATAC | | Roifman syndrome, RNU4ATAC-related condition, not provided,
Spondyloepiphyseal dysplasia congenita, Roifman syndrome, Osteodysplastic primordial dwarfism, type 1,
Lowry-Wood syndrome | Conflicting interpretations of pathogenicity
(Jan 19, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:122288494
- GRCh38:
- Chr2:121530918
| RNU4ATAC, CLASP1 | | not provided | Uncertain significance
(Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288494
- GRCh38:
- Chr2:121530918
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288495
- GRCh38:
- Chr2:121530919
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288495
- GRCh38:
- Chr2:121530919
| CLASP1, RNU4ATAC | | not provided | Pathogenic
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:122288496
- GRCh38:
- Chr2:121530920
| RNU4ATAC, CLASP1 | | not provided | Likely benign
(Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288497
- GRCh38:
- Chr2:121530921
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288497
- GRCh38:
- Chr2:121530921
| CLASP1, RNU4ATAC | | not provided | Likely benign
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288498
- GRCh38:
- Chr2:121530922
| RNU4ATAC, CLASP1 | | not provided | Likely benign
(Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288498
- GRCh38:
- Chr2:121530922
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288498
- GRCh38:
- Chr2:121530922
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288499
- GRCh38:
- Chr2:121530923
| RNU4ATAC, CLASP1 | | not provided | Uncertain significance
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288500
- GRCh38:
- Chr2:121530924
| RNU4ATAC, CLASP1 | | not provided | Likely benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288500
- GRCh38:
- Chr2:121530924
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288501
- GRCh38:
- Chr2:121530925
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288501
- GRCh38:
- Chr2:121530925
| CLASP1, RNU4ATAC | | Osteodysplastic primordial dwarfism, type 1 | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:122288501
- GRCh38:
- Chr2:121530925
| CLASP1, RNU4ATAC | | not provided | Pathogenic
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:122288502
- GRCh38:
- Chr2:121530926
| RNU4ATAC, CLASP1 | | not provided | Uncertain significance
(Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288502
- GRCh38:
- Chr2:121530926
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288503
- GRCh38:
- Chr2:121530927
| RNU4ATAC, CLASP1 | | Roifman syndrome, Lowry-Wood syndrome, Osteodysplastic primordial dwarfism, type 1,
not provided, RNU4ATAC-related spliceosomopathies, Roifman syndrome
| Likely pathogenic
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:122288505
- GRCh38:
- Chr2:121530929
| CLASP1, RNU4ATAC | | Roifman syndrome, not provided | Conflicting interpretations of pathogenicity
(Aug 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:122288505
- GRCh38:
- Chr2:121530929
| RNU4ATAC, CLASP1 | | Osteodysplastic primordial dwarfism, type 1 | Pathogenic
(Apr 8, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr2:122288506
- GRCh38:
- Chr2:121530930
| CLASP1, RNU4ATAC | | Roifman syndrome, RNU4ATAC-related condition, not provided,
Osteodysplastic primordial dwarfism, type 1, Roifman syndrome, Lowry-Wood syndrome,
Osteodysplastic primordial dwarfism, type 1 | Pathogenic/Likely pathogenic
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:122288507
- GRCh38:
- Chr2:121530931
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:122288507
- GRCh38:
- Chr2:121530931
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288508
- GRCh38:
- Chr2:121530932
| CLASP1, RNU4ATAC | | not provided, Lowry-Wood syndrome | Conflicting interpretations of pathogenicity
(Oct 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:122288508
- GRCh38:
- Chr2:121530932
| RNU4ATAC, CLASP1 | | not provided | Likely pathogenic
(May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:122288509
- GRCh38:
- Chr2:121530933
| CLASP1, RNU4ATAC | | not provided | Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |