| - GRCh37:
- Chr6:50938895-57297586
- GRCh38:
- Chr6:50971182-57432788
| BAG2, BEND6, BMP5, CILK1, COL21A1, DST, DST-AS1, EFHC1, ELOVL5, FAM83B, FBXO9, GCLC, GCLC-AS1, GCM1, GFRAL, GSTA1, GSTA2, GSTA3, GSTA4, GSTA5, HCRTR2, HMGCLL1, IL17A, IL17F, KIAA1586, KILH, KLHL31, LINC01564, LINC03001, LINCMD1, LOC101927082, LOC101927189, LOC110120617, LOC110121250, LOC111365194, LOC113175006, LOC113175007, LOC121132688, LOC121132689, LOC121740649, LOC121740650, LOC121740651, LOC121740652, LOC121740653, LOC123744820, LOC123744821, LOC123744822, LOC123744823, LOC123744824, LOC123744825, LOC123744826, LOC123744827, LOC123744828, LOC123744829, LOC123744830, LOC123744831, LOC126859690, LOC126859691, LOC126859692, LOC126859693, LOC126859694, LOC126859695, LOC126859696, LOC126859697, LOC126859698, LOC128031835, LOC128092246, LOC129389539, LOC129389540, LOC129389541, LOC129389542, LOC129389543, LOC129389544, LOC129389545, LOC129996608, LOC129996609, LOC129996610, LOC129996611, LOC129996612, LOC129996613, LOC129996614, LOC129996615, LOC129996616, LOC129996617, LOC129996618, LOC129996619, LOC129996620, LOC129996621, LOC129996622, LOC129996623, LOC129996624, LOC129996625, LOC129996626, LOC129996627, LOC129996628, LOC129996629, LOC129996630, LOC129996631, LOC129996632, LOC129996633, LOC129996634, LOC129996635, LOC129996636, LOC129996637, LOC129996638, LOC129996639, LOC129996640, LOC129996641, LOC129996642, LOC129996643, LOC129996644, LOC129996645, LOC129996646, LOC129996647, LOC129996648, LOC129996649, LOC129996650, LOC129996651, LOC129996652, LOC129996653, LOC129996654, LOC129996655, LOC129996656, LOC129996657, LOC129996658, LOC129996659, LOC129996660, LOC129996661, LOC129996662, LOC129996663, LOC129996664, LOC129996665, LOC129996666, LOC129996667, LOC132089399, LOC132089400, LOC132089401, LOC132089402, LOC132089403, LOC132089404, LOC132089405, LOC132089406, LOC132089407, LOC132089408, LOC132089409, LOC132089410, LOC132089411, LOC132089412, LOC132089413, LOC132090755, LOC132090756, LOC132090757, LOC730101, LRRC1, MCM3, MIR133B, MIR206, MIR548U, MIR5685, MLIP, MLIP-AS1, MLIP-IT1, PAQR8, PKHD1, PRIM2, RAB23, RN7SK, TINAG, TMEM14A, TRAM2, TRAM2-AS1, ZNF451, ZNF451-AS1 | | See cases | Pathogenic
(Dec 22, 2010) | no assertion criteria provided |
| - GRCh38:
- Chr6:53151508-58400428
| LINC01564, LINC03001, LOC101927189, LOC101927293, LOC113175007, LOC121132689, LOC123744830, LOC123744831, LOC121740652, LOC121740653, LOC126088080, LOC126859694, LOC126859695, LOC126859696, LOC126859697, LOC129389545, LOC129996644, LOC129996645, LOC123744825, LOC123744826, LOC123744827, LOC126859698, LOC129389544, LOC123744828, LOC123744829, BAG2, BEND6, BMP5, COL21A1, DST, DST-AS1, ELOVL5, FAM83B, GCLC, GCLC-AS1, GFRAL, HCRTR2, HMGCLL1, KIAA1586, KILH, KLHL31, LINC00680, LOC129996646, LOC129996647, LOC129996648, LOC129996649, LOC129996650, LOC129996651, LOC129996652, LOC129996653, LOC129996654, LOC129996655, LOC129996656, LOC129996657, LOC129996658, LOC129996659, LOC129996660, LOC129996661, LOC129996662, LOC129996663, LOC129996664, LOC129996665, LOC129996666, LOC129996667, LOC129996668, LOC129996669, LOC132089408, LOC132089409, LOC132089410, LOC132089411, LOC132089412, LOC132089413, LOC132090757, LRRC1, MIR548U, MIR5685, MLIP, MLIP-AS1, MLIP-IT1, PRIM2, RAB23, TINAG, TRA-AGC12-3, TRA-AGC13-2, TRA-AGC16-1, TRA-AGC24-1, TRI-AAT1-1, TRM-CAT7-1, ZNF451, ZNF451-AS1 | | Orofacial cleft | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr6:53796341-68859642
- GRCh38:
- Chr6:53931543-68149750
| BAG2, BEND6, BMP5, COL21A1, DST, DST-AS1, ERVH-3, EYS, FAM83B, FKBP1C, GFRAL, HCRTR2, HMGCLL1, KHDRBS2, KIAA1586, LGSN, LINC00680, LINC03001, LOC101927189, LOC101927293, LOC102723883, LOC111365145, LOC113175010, LOC113175011, LOC113175012, LOC121132689, LOC121132690, LOC121132691, LOC121740653, LOC121740654, LOC123744829, LOC123744830, LOC123744831, LOC123744832, LOC123744833, LOC123744834, LOC123744835, LOC123744836, LOC123744837, LOC126088080, LOC126088089, LOC126088090, LOC126859696, LOC126859697, LOC126859698, LOC126859699, LOC126859700, LOC126859701, LOC126859702, LOC126859703, LOC128125822, LOC129389544, LOC129389545, LOC129389546, LOC129389547, LOC129389548, LOC129389549, LOC129389550, LOC129996656, LOC129996657, LOC129996658, LOC129996659, LOC129996660, LOC129996661, LOC129996662, LOC129996663, LOC129996664, LOC129996665, LOC129996666, LOC129996667, LOC129996668, LOC129996669, LOC129996670, LOC129996671, LOC129996672, LOC129996673, LOC129996674, LOC129996675, LOC129996676, LOC129996677, LOC129996678, LOC129996679, LOC129996680, LOC129996681, LOC129996682, LOC129996683, LOC129996684, LOC132089410, LOC132089411, LOC132089412, LOC132089413, LOC132089414, LOC132089415, LOC132089416, LOC132089417, LOC132089418, LOC132089419, LOC132089420, LOC132089421, LOC132089422, LOC132089423, LOC132089424, LOC132089425, LOC132089426, LOC132089427, LOC132089428, LOC132089429, LOC132089430, LOC132089431, LOC132089432, LOC132089433, LOC132089434, LOC132089435, LOC132089436, LOC132089437, LOC132089438, LOC132089439, LOC132089440, LOC132089441, LOC132089442, LOC132089443, LOC132089444, LOC132090757, LOC132090758, LOC132090759, LOC132090760, LOC132090761, LOC132205963, LOC132205964, MIR548U, MLIP, MLIP-AS1, MLIP-IT1, MTRNR2L9, PHF3, PRIM2, PTP4A1, RAB23, SCAT8, TINAG, TRA-AGC12-3, TRA-AGC13-2, TRA-AGC16-1, TRA-AGC24-1, TRI-AAT1-1, TRM-CAT7-1, ZC3H11C, ZNF451, ZNF451-AS1 | | See cases | Pathogenic
(Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr6:56177722-57171010
- GRCh38:
- Chr6:56312924-57306212
| BAG2, BEND6, COL21A1, DST, DST-AS1, KIAA1586, LINC03001, LOC123744830, LOC123744831, LOC126859698, LOC129389544, LOC129389545, LOC129996656, LOC129996657, LOC129996658, LOC129996659, LOC129996660, LOC129996661, LOC129996662, LOC129996663, LOC129996664, LOC129996665, LOC129996666, LOC132089412, LOC132089413, LOC132090757, PRIM2, RAB23, ZNF451, ZNF451-AS1 | | See cases | Uncertain significance
(Dec 30, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr6:56504480-57297586
- GRCh38:
- Chr6:56639682-57432788
| BAG2, BEND6, DST, DST-AS1, KIAA1586, LINC03001, LOC123744830, LOC123744831, LOC126859698, LOC129389545, LOC129996657, LOC129996658, LOC129996659, LOC129996660, LOC129996661, LOC129996662, LOC129996663, LOC129996664, LOC129996665, LOC129996666, LOC129996667, LOC132089412, LOC132089413, LOC132090757, MIR548U, PRIM2, RAB23, ZNF451, ZNF451-AS1 | | See cases | Uncertain significance
(Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr6:57051929
- GRCh38:
- Chr6:57187131
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57051961
- GRCh38:
- Chr6:57187163
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57052070
- GRCh38:
- Chr6:57187272
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57052130
- GRCh38:
- Chr6:57187332
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57052226
- GRCh38:
- Chr6:57187428
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57052383
- GRCh38:
- Chr6:57187585
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57052490
- GRCh38:
- Chr6:57187692
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57052506
- GRCh38:
- Chr6:57187708
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Feb 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57052578
- GRCh38:
- Chr6:57187780
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57052673
- GRCh38:
- Chr6:57187875
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57052774
- GRCh38:
- Chr6:57187976
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57052834
- GRCh38:
- Chr6:57188036
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57052918
- GRCh38:
- Chr6:57188120
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57052940
- GRCh38:
- Chr6:57188142
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57052986
- GRCh38:
- Chr6:57188188
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57053014
- GRCh38:
- Chr6:57188216
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57053192
- GRCh38:
- Chr6:57188394
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57053251
- GRCh38:
- Chr6:57188453
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57053442
- GRCh38:
- Chr6:57188644
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57053519
- GRCh38:
- Chr6:57188721
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57053553
- GRCh38:
- Chr6:57188755
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57053591-57053592
- GRCh38:
- Chr6:57188793-57188794
| BAG2, RAB23 | | Carpenter syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57053723
- GRCh38:
- Chr6:57188925
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57053725
- GRCh38:
- Chr6:57188927
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57053765
- GRCh38:
- Chr6:57188967
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57053947
- GRCh38:
- Chr6:57189149
| BAG2, RAB23 | | Carpenter syndrome | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57054008
- GRCh38:
- Chr6:57189210
| BAG2, RAB23 | | Carpenter syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57054071-57054072
- GRCh38:
- Chr6:57189273-57189274
| BAG2, RAB23 | | Carpenter syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57054128
- GRCh38:
- Chr6:57189330
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57054207
- GRCh38:
- Chr6:57189409
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57054275
- GRCh38:
- Chr6:57189477
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57054339
- GRCh38:
- Chr6:57189541
| BAG2, RAB23 | | Carpenter syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57054409
- GRCh38:
- Chr6:57189611
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57054448
- GRCh38:
- Chr6:57189650
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57054464
- GRCh38:
- Chr6:57189666
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57054524
- GRCh38:
- Chr6:57189726
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57054537
- GRCh38:
- Chr6:57189739
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57054582
- GRCh38:
- Chr6:57189784
| BAG2, RAB23 | | RAB23-related Carpenter syndrome | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57054641
- GRCh38:
- Chr6:57189843
| RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57054652-57054655
- GRCh38:
- Chr6:57189854-57189857
| RAB23 | | Carpenter syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57054715
- GRCh38:
- Chr6:57189917
| RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57054843
- GRCh38:
- Chr6:57190045
| RAB23 | | Carpenter syndrome | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57055114
- GRCh38:
- Chr6:57190316
| RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57055142
- GRCh38:
- Chr6:57190344
| RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57055178
- GRCh38:
- Chr6:57190380
| RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57055259
- GRCh38:
- Chr6:57190461
| RAB23 | | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57055261
- GRCh38:
- Chr6:57190463
| RAB23 | | Carpenter syndrome, See cases | Conflicting interpretations of pathogenicity
(Dec 8, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:57055268
- GRCh38:
- Chr6:57190470
| RAB23 | S235R | Inborn genetic diseases | Uncertain significance
(Dec 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57055274
- GRCh38:
- Chr6:57190476
| RAB23 | | Carpenter syndrome | Likely benign
(Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57055280
- GRCh38:
- Chr6:57190482
| RAB23 | | Carpenter syndrome | Likely benign
(Feb 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57055298
- GRCh38:
- Chr6:57190500
| RAB23 | | Carpenter syndrome | Likely benign
(Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57055303
- GRCh38:
- Chr6:57190505
| RAB23 | T224S | RAB23-related condition, Carpenter syndrome, RAB23-related Carpenter syndrome
| Uncertain significance
(Jun 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:57055309
- GRCh38:
- Chr6:57190511
| RAB23 | Q222E | RAB23-related Carpenter syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57055331
- GRCh38:
- Chr6:57190533
| RAB23 | | Carpenter syndrome | Likely benign
(Nov 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57055346
- GRCh38:
- Chr6:57190548
| RAB23 | | Carpenter syndrome | Likely benign
(Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57055354
- GRCh38:
- Chr6:57190556
| RAB23 | G207S | not specified, not provided, RAB23-related Carpenter syndrome,
Carpenter syndrome | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:57055357
- GRCh38:
- Chr6:57190559
| RAB23 | S206T | Inborn genetic diseases, RAB23-related Carpenter syndrome | Uncertain significance
(Mar 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:57055362
- GRCh38:
- Chr6:57190564
| RAB23 | Q204R | Inborn genetic diseases, RAB23-related condition | Uncertain significance
(Aug 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:57055366
- GRCh38:
- Chr6:57190568
| RAB23 | G203S | Carpenter syndrome | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57055367
- GRCh38:
- Chr6:57190569
| RAB23 | | Carpenter syndrome | Likely benign
(Sep 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57055370
- GRCh38:
- Chr6:57190572
| RAB23 | | Carpenter syndrome | Likely benign
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57055379
- GRCh38:
- Chr6:57190581
| RAB23 | | Carpenter syndrome | Likely benign
(Aug 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57055383
- GRCh38:
- Chr6:57190585
| RAB23 | S197F | Carpenter syndrome | Uncertain significance
(Sep 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57055391
- GRCh38:
- Chr6:57190593
| RAB23 | | Carpenter syndrome | Likely benign
(Oct 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57055397
- GRCh38:
- Chr6:57190599
| RAB23 | | Carpenter syndrome | Likely benign
(Jan 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57055402-57055403
- GRCh38:
- Chr6:57190604-57190605
| RAB23 | | Carpenter syndrome | Likely benign
(Oct 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57055403
- GRCh38:
- Chr6:57190605
| RAB23 | | Carpenter syndrome | Likely benign
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57055405
- GRCh38:
- Chr6:57190607
| RAB23 | | Carpenter syndrome | Likely benign
(Jan 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57055568
- GRCh38:
- Chr6:57190770
| RAB23 | | not provided | Likely benign
(Oct 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57058612
- GRCh38:
- Chr6:57193814
| RAB23 | | not provided | Likely benign
(Feb 5, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57058630
- GRCh38:
- Chr6:57193832
| RAB23 | | Carpenter syndrome | Likely benign
(Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57058632
- GRCh38:
- Chr6:57193834
| RAB23 | | Carpenter syndrome | Likely benign
(Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57058633
- GRCh38:
- Chr6:57193835
| RAB23 | | Carpenter syndrome | Likely benign
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57058655
- GRCh38:
- Chr6:57193857
| RAB23 | S187fs | RAB23-related Carpenter syndrome | Likely pathogenic
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57058659
- GRCh38:
- Chr6:57193861
| RAB23 | | Carpenter syndrome | Likely benign
(Mar 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57058662
- GRCh38:
- Chr6:57193864
| RAB23 | | Carpenter syndrome | Likely benign
(Sep 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57058662
- GRCh38:
- Chr6:57193864
| RAB23 | | Carpenter syndrome | Likely benign
(Nov 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57058663
- GRCh38:
- Chr6:57193865
| RAB23 | T184M | RAB23-related condition, Carpenter syndrome | Conflicting interpretations of pathogenicity
(Apr 3, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:57058665
- GRCh38:
- Chr6:57193867
| RAB23 | | Carpenter syndrome | Likely benign
(Jul 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57058667
- GRCh38:
- Chr6:57193869
| RAB23 | | Carpenter syndrome | Likely benign
(Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57058668
- GRCh38:
- Chr6:57193870
| RAB23 | E182D | RAB23-related condition | Uncertain significance
(Aug 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57058678
- GRCh38:
- Chr6:57193880
| RAB23 | E179A | RAB23-related condition, RAB23-related Carpenter syndrome, Carpenter syndrome
| Conflicting interpretations of pathogenicity
(May 26, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:57058680
- GRCh38:
- Chr6:57193882
| RAB23 | | Carpenter syndrome | Benign
(Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57058685
- GRCh38:
- Chr6:57193887
| RAB23 | I177L | not specified | Uncertain significance
(Aug 10, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57058688
- GRCh38:
- Chr6:57193890
| RAB23 | Q176* | Carpenter syndrome | Pathogenic
(Mar 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57058691-57058692
- GRCh38:
- Chr6:57193893-57193894
| RAB23 | Q175fs | Carpenter syndrome | Uncertain significance
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57058704
- GRCh38:
- Chr6:57193906
| RAB23 | | Carpenter syndrome | Likely benign
(Jun 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57058707
- GRCh38:
- Chr6:57193909
| RAB23 | | Carpenter syndrome | Likely benign
(Jan 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57058728-57058733
- GRCh38:
- Chr6:57193930-57193935
| RAB23 | | Carpenter syndrome | Likely pathogenic
(Aug 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57058739
- GRCh38:
- Chr6:57193941
| RAB23 | | Carpenter syndrome | Likely benign
(Jan 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57058740
- GRCh38:
- Chr6:57193942
| RAB23 | | Carpenter syndrome | Likely benign
(Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57058741
- GRCh38:
- Chr6:57193943
| RAB23 | | Carpenter syndrome | Likely benign
(Feb 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57058745
- GRCh38:
- Chr6:57193947
| RAB23 | | Carpenter syndrome | Likely benign
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57058798
- GRCh38:
- Chr6:57194000
| RAB23 | | not provided | Likely benign
(Feb 5, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:57059498-57059500
- GRCh38:
- Chr6:57194700-57194702
| RAB23 | | not provided | Likely benign
(Mar 16, 2019) | criteria provided, single submitter |