| - GRCh37:
- Chr1:11073761-11073762
- GRCh38:
- Chr1:11013704-11013705
| TARDBP | | Amyotrophic Lateral Sclerosis, Dominant, Frontotemporal dementia | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:11082564
- GRCh38:
- Chr1:11022507
| TARDBP | | Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia, Inborn genetic diseases,
Amyotrophic Lateral Sclerosis, Dominant, not specified, Amyotrophic lateral sclerosis type 10,
Frontotemporal dementia | Benign/Likely benign
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:11082595
- GRCh38:
- Chr1:11022538
| TARDBP | S377P | Frontotemporal dementia | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:11082919
- GRCh38:
- Chr1:11022862
| TARDBP | | Amyotrophic Lateral Sclerosis, Dominant, not provided, Amyotrophic lateral sclerosis type 10,
Frontotemporal dementia | Benign/Likely benign
(Mar 31, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:11083213
- GRCh38:
- Chr1:11023156
| TARDBP | | Amyotrophic Lateral Sclerosis, Dominant, Frontotemporal dementia | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:11084306-11084309
- GRCh38:
- Chr1:11024249-11024252
| TARDBP | | Amyotrophic Lateral Sclerosis, Dominant, Frontotemporal dementia | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:11084334
- GRCh38:
- Chr1:11024277
| TARDBP | | Amyotrophic Lateral Sclerosis, Dominant, Frontotemporal dementia | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:11085004-11085005
- GRCh38:
- Chr1:11024947-11024948
| MASP2, TARDBP | | Frontotemporal dementia, Amyotrophic Lateral Sclerosis, Dominant, Immunodeficiency due to MASP-2 deficiency
| Benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:11085042
- GRCh38:
- Chr1:11024985
| MASP2, TARDBP | | Amyotrophic Lateral Sclerosis, Dominant, Amyotrophic lateral sclerosis type 10, Frontotemporal dementia,
Immunodeficiency due to MASP-2 deficiency | Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:11085248
- GRCh38:
- Chr1:11025191
| TARDBP | | Frontotemporal dementia, Amyotrophic Lateral Sclerosis, Dominant | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:11085531-11085532
- GRCh38:
- Chr1:11025474-11025475
| TARDBP | | Frontotemporal dementia, Amyotrophic Lateral Sclerosis, Dominant | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:11086717
- GRCh38:
- Chr1:11026660
| MASP2, TARDBP | | Amyotrophic Lateral Sclerosis, Dominant, Frontotemporal dementia, Immunodeficiency due to MASP-2 deficiency
| Benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:11086758
- GRCh38:
- Chr1:11026701
| MASP2, TARDBP | | Immunodeficiency due to MASP-2 deficiency, Amyotrophic Lateral Sclerosis, Dominant, Frontotemporal dementia
| Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:11087386
- GRCh38:
- Chr1:11027329
| MASP2, TARDBP | | Amyotrophic Lateral Sclerosis, Dominant, Frontotemporal dementia, not provided,
Immunodeficiency due to MASP-2 deficiency | Benign/Likely benign
(Dec 31, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:11087524
- GRCh38:
- Chr1:11027467
| MASP2, TARDBP | | Amyotrophic Lateral Sclerosis, Dominant, Frontotemporal dementia, not specified,
Immunodeficiency due to MASP-2 deficiency | Benign
(Jun 14, 2016) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:74597375
- GRCh38:
- Chr2:74370248
| DCTN1 | R409W, R275W, R372W, R389W, R402W, R386W, R392W | Inborn genetic diseases, Perry syndrome, Amyotrophic lateral sclerosis type 1,
Neuronopathy, distal hereditary motor, type 7B | Conflicting interpretations of pathogenicity
(Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:166152367
- GRCh38:
- Chr2:165295857
| SCN2A | D12N | Complex neurodevelopmental disorder | not provided | no assertion provided |
| - GRCh37:
- Chr2:166234111
- GRCh38:
- Chr2:165377601
| SCN2A | T1420M | Complex neurodevelopmental disorder | not provided | no assertion provided |
| - GRCh37:
- Chr2:166245184
- GRCh38:
- Chr2:165388674
| SCN2A | T1623N | Seizures, benign familial infantile, 3, Developmental and epileptic encephalopathy, 11 | Pathogenic
(Jan 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:212251724
- GRCh38:
- Chr2:211386999
| ERBB4 | R1096H, R1112H | not provided | Uncertain significance
(Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:217148338
- GRCh38:
- Chr2:216283615
| MARCHF4 | K211E | Frontotemporal dementia | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr2:217234945
- GRCh38:
- Chr2:216370222
| MARCHF4 | W13C | Frontotemporal dementia | Likely benign | no assertion criteria provided |
| - GRCh37:
- Chr3:52730612
- GRCh38:
- Chr3:52696596
| GLT8D1 | K131fs | Frontotemporal dementia | Likely pathogenic
(Feb 2, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr3:87276414
- GRCh38:
- Chr3:87227264
| CHMP2B | | Frontotemporal dementia | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:87303063-87303064
- GRCh38:
- Chr3:87253913-87253914
| CHMP2B | | Frontotemporal dementia | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:87303064-87303065
- GRCh38:
- Chr3:87253914-87253915
| CHMP2B | | not provided, Frontotemporal dementia | Conflicting interpretations of pathogenicity
(Jan 19, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:87303871
- GRCh38:
- Chr3:87254721
| CHMP2B | | Frontotemporal dementia | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:87303924-87303929
- GRCh38:
- Chr3:87254774-87254779
| CHMP2B | | Frontotemporal dementia | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:87303978-87303981
- GRCh38:
- Chr3:87254828-87254831
| CHMP2B | | Frontotemporal dementia | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:87304162
- GRCh38:
- Chr3:87255012
| CHMP2B | | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, Frontotemporal dementia | Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:87304475
- GRCh38:
- Chr3:87255325
| CHMP2B | | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, Frontotemporal dementia | Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:87304561
- GRCh38:
- Chr3:87255411
| CHMP2B, POU1F1 | | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, Combined Pituitary Hormone Deficiency, Recessive, Frontotemporal dementia
| Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:87304613
- GRCh38:
- Chr3:87255463
| CHMP2B | | Frontotemporal dementia | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:87308831
- GRCh38:
- Chr3:87259681
| POU1F1, CHMP2B | | not provided, Frontotemporal dementia, Pituitary hormone deficiency, combined, 1
| Benign
(Jun 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:87308904-87308905
- GRCh38:
- Chr3:87259754-87259755
| POU1F1, CHMP2B | | Combined Pituitary Hormone Deficiency, Recessive, Frontotemporal dementia | Conflicting interpretations of pathogenicity
(Jun 14, 2016) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:87308904
- GRCh38:
- Chr3:87259754
| CHMP2B, POU1F1 | | Combined Pituitary Hormone Deficiency, Recessive, not provided, Frontotemporal dementia,
Pituitary hormone deficiency, combined, 1 | Benign/Likely benign
(Jun 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:87308905
- GRCh38:
- Chr3:87259755
| CHMP2B, POU1F1 | | not provided, Combined Pituitary Hormone Deficiency, Recessive, Frontotemporal dementia,
Pituitary hormone deficiency, combined, 1 | Benign/Likely benign
(Jun 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:87308906
- GRCh38:
- Chr3:87259756
| CHMP2B, POU1F1 | | not provided, Combined Pituitary Hormone Deficiency, Recessive, Frontotemporal dementia,
Pituitary hormone deficiency, combined, 1 | Benign/Likely benign
(Jun 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:87309259
- GRCh38:
- Chr3:87260109
| POU1F1, CHMP2B | | Combined Pituitary Hormone Deficiency, Recessive, not specified, not provided,
Frontotemporal dementia, Pituitary hormone deficiency, combined, 1 | Benign/Likely benign
(Feb 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:87309260
- GRCh38:
- Chr3:87260110
| CHMP2B, POU1F1 | | not provided, Combined Pituitary Hormone Deficiency, Recessive, Frontotemporal dementia
| Conflicting interpretations of pathogenicity
(Dec 31, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:88178837
- GRCh38:
- Chr5:88883020
| MEF2C | | Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations, Frontotemporal dementia, not specified
| Uncertain significance
(Jun 14, 2016) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:88179126-88179139
- GRCh38:
- Chr5:88883309-88883322
| MEF2C | | Frontotemporal dementia | Likely pathogenic
(Aug 1, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr5:149433949
- GRCh38:
- Chr5:150054386
| CSF1R | R752K, R900K | Frontotemporal dementia | Likely pathogenic
(Oct 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:156974-46757028
- GRCh38:
- Chr6:156974-46789291
| LOC110121065, LOC110121068, LOC110121074, LOC110121080, LOC110121091, LOC110121112, LOC110121134, LOC110121220, LOC110121246, LOC110121247, LOC110121274, LOC110599562, LOC110631417, LOC111365167, LOC111365181, LOC111429610, LOC111429615, LOC111501776, LOC111556163, LOC111591500, LOC111721708, LOC111721709, LOC111828527, LOC111828528, LOC113121298, LOC113146407, LOC113146411, LOC113146412, LOC113146424, LOC113146425, LOC113174970, LOC113174974, LOC113174975, LOC113174976, LOC113174977, LOC113174978, LOC113174981, LOC113174982, LOC113174983, LOC113174984, LOC113174985, LOC113174986, LOC113174987, LOC113174995, LOC113174996, LOC113174988, LOC113174989, LOC113174991, LOC113174992, LOC113174993, LOC113174997, LOC113174998, LOC113174999, LOC113175000, LOC113175001, LOC113175002, LOC113175003, LOC113175004, LOC113175005, LOC113175008, LOC113175009, LOC113175013, LOC113175014, LOC113175015, LOC113175016, LOC114004399, LOC114004400, LOC114827825, LOC114827828, LOC116158537, LOC116158538, LOC116158539, LOC116158540, LOC116158541, LOC116158542, LOC116158543, LOC116158544, LOC116158545, LOC116158546, LOC116158547, LOC116158548, LOC116158549, LOC116158550, LOC116158551, LOC116158552, LOC116183041, LOC116183042, LOC116183043, LOC116183044, LOC116183045, LOC116183046, LOC116183047, LOC116183048, LOC116183049, LOC116183050, LOC116183051, LOC116183052, LOC116183053, LOC116183054, LOC116183055, LOC116183056, LOC116183057, LOC116183058, LOC116183059, LOC116183060, LOC116183061, LOC116183062, LOC116183063, LOC120285838, LOC121099719, LOC121099720, LOC121099721, LOC121099722, LOC121099724, LOC121106426, LOC121113497, LOC121113498, LOC121113499, LOC121132669, LOC121132670, LOC121132671, LOC121132672, LOC121132673, LOC121132674, LOC121132675, LOC121132676, LOC121132677, LOC121132678, LOC121132679, LOC121132680, LOC121132681, LOC121132682, LOC121132683, LOC121132684, LOC121132685, LOC121132686, LOC121740636, LOC121740637, LOC121740638, LOC121740639, LOC121740640, LOC121740641, LOC121740642, LOC121740643, LOC121740644, LOC121740645, LOC121740646, LOC121740647, LOC121740648, LOC123575642, LOC123575643, LOC123575644, LOC123575645, LOC123575646, LOC123575647, LOC123575648, LOC123575649, LOC123575650, LOC123575651, LOC123575652, LOC123575653, LOC123575654, LOC123575655, LOC123575656, LOC123575657, LOC123575658, LOC123575659, LOC123575660, LOC123575661, LOC123575662, LOC123575663, LOC123575664, LOC123575665, LOC123575666, LOC123575667, LOC123575668, LOC123575669, LOC123575670, LOC123575671, LOC123575672, LOC123575673, LOC123575674, LOC123575675, LOC123575676, LOC123575677, LOC123575678, LOC123575679, LOC123575680, LOC123620059, LOC123620060, LOC123620061, LOC123620062, LOC123620063, LOC123620064, LOC123620065, LOC123620066, LOC123620067, LOC123620068, LOC123620069, LOC123620070, LOC123620071, LOC123620072, LOC123620073, LOC123620074, LOC123620075, LOC123620076, LOC123620077, LOC123620078, LOC123620079, LOC123620080, LOC123620081, LOC123620082, LOC123620083, LOC123620084, LOC123620085, LOC123620086, LOC123620087, LOC123620088, LOC123620089, LOC123620090, LOC123620091, LOC123620092, LOC123620093, LOC123620094, LOC123620095, LOC123620096, LOC123620097, LOC123620098, LOC123620099, LOC123620100, LOC123620101, LOC123620102, LOC123620103, LOC123620104, LOC123620105, LOC123620106, LOC123620107, LOC123620108, LOC123620109, LOC123620110, LOC123620111, LOC123620112, LOC123620113, LOC123620114, LOC123620115, LOC123620116, LOC123620117, LOC123620118, LOC123620119, LOC123620120, LOC123620121, LOC123620122, LOC123620123, LOC123620124, LOC123620125, LOC123620126, LOC123620127, LOC123744813, LOC123744814, LOC126088086, LOC126088087, LOC126088088, LOC126859546, LOC126859547, LOC126859548, LOC126859549, LOC126859550, LOC126859551, LOC126859552, LOC126859553, LOC126859554, LOC126859555, LOC126859556, LOC126859557, LOC126859558, LOC126859559, LOC126859560, LOC126859561, LOC126859562, LOC126859563, LOC126859564, LOC126859565, LOC126859566, LOC126859567, LOC126859568, LOC126859569, LOC126859570, LOC126859571, LOC126859572, LOC126859573, LOC126859574, LOC126859575, LOC126859576, LOC126859577, LOC126859578, LOC126859579, LOC126859580, LOC126859581, LOC126859582, LOC126859583, LOC126859584, LOC126859585, LOC126859586, LOC126859587, LOC126859588, LOC126859589, LOC126859590, LOC126859591, LOC126859592, LOC126859593, LOC126859594, LOC126859595, LOC126859596, LOC126859597, LOC126859598, LOC126859599, LOC126859600, LOC126859601, LOC126859602, LOC126859603, LOC126859604, LOC126859605, LOC126859606, LOC126859607, LOC126859608, LOC126859609, LOC126859610, LOC126859611, LOC126859612, LOC126859613, LOC126859614, LOC126859615, LOC126859616, LOC126859617, LOC126859618, LOC126859619, LOC126859620, LOC126859621, LOC126859622, LOC126859623, LOC126859624, LOC126859625, LOC126859626, LOC126859627, LOC126859628, LOC126859629, LOC126859630, LOC126859631, LOC126859632, LOC126859633, LOC126859634, LOC126859635, LOC126859636, LOC126859637, LOC126859638, LOC126859639, LOC126859640, LOC126859641, LOC126859642, LOC126859660, LOC126859643, LOC126859644, LOC126859645, LOC126859646, LOC126859647, LOC126859648, LOC126859649, LOC126859650, LOC126859651, LOC126859652, LOC126859653, LOC126859654, LOC126859655, LOC126859656, LOC126859657, LOC126859658, LOC126859659, LOC126859661, LOC126859662, LOC126859663, LOC126859664, LOC126859665, LOC126859666, LOC126859667, LOC126859668, LOC126859669, LOC126859670, LOC126859671, LOC126859672, LOC126859673, LOC126859674, LOC126859675, LOC126859676, LOC126859677, LOC126859678, LOC126859679, LOC126859680, LOC126859681, LOC126859682, LOC127903862, LOC128462396, LOC128462417, LOC128635605, LOC128772275, LOC128772276, LOC128772277, LOC128772278, LOC128772279, LOC128772280, LOC128772281, LOC128772282, LOC128772283, LOC128772284, LOC128772285, LOC128772286, LOC128772287, LOC128772288, LOC128772289, LOC128772290, LOC128772291, LOC128772292, LOC128772293, LOC128772294, LOC128772295, LOC128781586, LOC128781587, LOC128781588, LOC285819, LOC285847, LOC401261, LOC554223, LOC643327, LRFN2, LRRC73, LSM2, LST1, LTA, LTB, LY6G5B, LY6G5C, LY6G6C, LY6G6D, LY6G6F, LY6G6F-LY6G6D, LY86, LY86-AS1, LYRM4, LYRM4-AS1, MAD2L1BP, MAK, MAPK13, MAPK14, MEA1, MED20, MAS1L, MBOAT1, MCCD1, MCUR1, MDC1, MDC1-AS1, MDFI, MDGA1, MICA, MICA-AS1, MICB, MIR5004, MICB-DT, MIR10398, MIR1236, MIR1275, MIR219A1, MIR3135B, MIR3143, MIR3691, MIR3925, MIR3934, MIR4462, MIR4639, MIR4640, MIR4641, MIR4642, MIR4645, MIR4646, MIR4647, MIR548A1, MIR548A1HG, MIR5683, MIR5689, MIR5689HG, MIR5690, MIR586, MIR6720, MIR6721, MIR6780B, MIR6832, MIR6833, MIR6834, MIR6835, MIR6873, MIR6891, MIR7111, MIR7159, MIR7853, MIR877, MIR9983, MLN, MOCS1, MRPS10, MOG, MPIG6B, MRPL14, MRPL2, MRPS18A, MRPS18B, MRS2, MSH5, MSH5-SAPCD1, MTCH1, MUC21, MUC22, MUCL3, MYLIP, MYLK4, MYMX, NBAT1, NCR2, NCR3, NEDD9, NELFE, NEU1, NFKBIE, NFKBIL1, NFYA, NHLRC1, NKAPL, NOL7, NOTCH4, NQO2, NQO2-AS1, NRM, NRN1, NRSN1, NUDT3, NUP153, NUP153-AS1, OARD1, OFCC1, OR10C1, OR11A1, OR12D1, OR12D2, OR12D3, OR14J1, OR1F12, OR2B2, OR2B3, OR2B6, OR2B8P, OR2H1, OR2H2, OR2I1P, OR2J1, OR2J2, OR2J3, OR2W1, OR2W1-AS1, OR5V1, PACSIN1, PAK1IP1, PANDAR, PBX2, PEX6, PFDN6, PGBD1, PGC, PHACTR1, PHF1, PI16, PIM1, PLA2G7, PNPLA1, POLH, POLR1C, POLR1H, POM121L2, PRPF4B, POU5F1, PPARD, PPIL1, PPP1R10, PPP1R11, PPP1R18, PPP1R3G, PPP2R5D, PPT2, PPT2-EGFL8, PRICKLE4, PRL, PRPH2, PRR3, PRRC2A, PXDC1, PXT1, PRRT1, PRSS16, PSMB8, RAB44, PSMB8-AS1, PSMB9, PSMG4, PSORS1C1, PSORS1C2, PSORS1C3, PTCRA, PTK7, RANBP9, RBM24, RCAN2, RCAN2-DT, RGL2, RPL7L1, RING1, RIOK1, RIPK1, RIPOR2, RNF144B, RNF182, RNF39, RNF5, RNF8, RPL10A, RPP21, RPP40, RPS10, RPS10-NUDT3, RPS18, RREB1, RRP36, RSPH9, RUNX2, RUNX2-AS1, SCAND3, RXRB, SAPCD1, SAPCD1-AS1, SAYSD1, SCARNA27, SCGN, SCIRT, SCUBE3, SERPINB1, SERPINB6, SERPINB9, SERPINB9-AS1, SFTA2, SIRT5, SKIC2, SLC17A1, SLC17A2, SLC17A3, SLC17A4, SLC22A23, SLC22A7, SLC25A27, SLC26A8, SLC29A1, SLC35B2, SLC35B3, SLC39A7, SLC44A4, SMIM13, SMIM29, SMIM40, SNHG32, SNORA38, SNORD117, SNRNP48, SNORD32B, SNORD48, SNORD52, SNORD84, SNRPC, SOX4, SPATS1, SPDEF, SRF, SRPK1, SRSF3, SSR1, STK19, STK38, STMND1, SUPT3H, SYCP2L, SYNGAP1, SYNGAP1-AS1, TAF11, TAF8, TAP1, TAP2, TAPBP, TBC1D22B, TBC1D7, TBC1D7-LOC100130357, TBCC, TCF19, TCP11, TCTE1, TDP2, TDRD6, TDRD6-AS1, TDRG1, TEAD3, TFAP2A, TFAP2A-AS1, TFAP2A-AS2, TFEB, TJAP1, TMEM14B, TMEM14B-DT, TMEM14C, TMEM151B, TMEM170B, TMEM217, TMEM217B, TMEM63B, TNF, TNXB, TOMM6, TPMT, TRA-AGC1-1, TRA-AGC10-1, TRA-AGC11-1, TRA-AGC12-1, TRA-AGC14-1, TRA-AGC14-2, TRA-AGC2-1, TRA-AGC2-2, TRA-AGC3-1, TRA-AGC4-1, TRA-AGC5-1, TRA-AGC6-1, TRA-AGC7-1, TRA-AGC9-1, TRA-CGC1-1, TRA-CGC2-1, TRA-CGC4-1, TRA-TGC1-1, TRA-TGC2-1, TRA-TGC5-1, TRA-TGC6-1, TRA-TGC7-1, TRD-GTC2-6, TRD-GTC2-7, TRD-GTC3-1, TRE-CTC1-6, TREM1, TREM2, TREML1, TREML2, TREML4, TRERF1, TRF-GAA1-1, TRF-GAA1-2, TRF-GAA3-1, TRF-GAA4-1, TRI-AAT3-1, TRF-GAA5-1, TRF-GAA6-1, TRG-GCC2-3, TRH-GTG1-5, TRI-AAT2-1, TRI-AAT5-1, TRI-AAT5-2, TRI-AAT5-3, TRI-AAT6-1, TRI-AAT7-1, TRI-AAT7-2, TRI-AAT8-1, TRI-AAT9-1, TRI-TAT2-2, TRI-TAT2-3, TRI-TAT3-1, TRIM10, TRIM15, TRIM26, TRIM27, TRIM31, TRIM31-AS1, TRIM38, TRK-CTT2-4, TRIM39, TRIM39-RPP21, TRIM40, TRK-TTT3-3, TRK-TTT4-1, TRK-TTT6-1, TRK-TTT7-1, TRK-TTT9-1, TRL-AAG2-2, TRL-AAG3-1, TRL-AAG4-1, TRL-CAA1-1, TRL-CAA1-2, TRL-CAA2-1, TRL-CAA3-1, TRL-CAG1-7, TRL-TAA2-1, TRL-TAA4-1, TRM-CAT3-1, TRM-CAT3-2, TRM-CAT4-1, TRM-CAT4-2, TRM-CAT4-3, TRM-CAT5-1, TRM-CAT5-2, TRP-AGG2-2, TRP-CGG2-1, TRQ-CTG1-1, TRQ-CTG1-2, TRQ-TTG3-3, TRQ-CTG1-3, TRQ-CTG2-1, TRQ-CTG5-1, TRQ-CTG6-1, TRQ-TTG2-1, TRQ-TTG3-1, TRQ-TTG3-2, TRR-ACG1-1, TRR-ACG1-2, TRR-ACG2-2, TRR-ACG2-3, TRR-ACG2-4, TRR-CCG1-1, TRR-CCG1-2, TRR-TCG2-1, TRR-TCG4-1, TRR-TCG5-1, TRR-TCT5-1, TRS-AGA1-1, TRS-AGA2-1, TRS-AGA2-2, TRS-AGA2-3, TRS-AGA2-4, TRS-AGA3-1, TRS-AGA4-1, TRS-CGA2-1, TRS-CGA3-1, TRS-GCT1-1, TRS-GCT2-1, TRS-GCT4-1, TRS-GCT5-1, TRS-GCT6-1, TRS-TGA2-1, TRS-TGA3-1, TRS-TGA4-1, TRT-AGT2-1, TRT-AGT2-2, TRT-AGT3-1, TRT-AGT4-1, TRT-AGT6-1, TRT-CGT1-1, TRT-CGT3-1, TRT-CGT5-1, TRT-TGT1-1, TRV-AAC1-5, TRV-AAC3-1, TRV-AAC4-1, TRV-AAC5-1, TRV-AAC6-1, TRV-CAC1-6, TRV-CAC2-1, TRV-CAC6-1, TRV-CAC7-1, TRV-CAC9-1, TRV-TAC4-1, TRW-CCA3-1, TRW-CCA3-2, TRX-CAT1-2, TRX-CAT1-3, TRX-CAT1-4, TRX-CAT1-5, TRX-CAT1-6, TRX-CAT1-7, TRX-CAT2-1, TRY-GTA1-1, TRY-GTA3-1, TRY-GTA6-1, TRY-GTA8-1, TSBP1, TSBP1-AS1, TSPO2, TTBK1, TUBB, TUBB2A, TUBB2B, TULP1, TXNDC5, UBD, UBR2, UNC5CL, UQCC2, USP49, VARS1, VARS2, VEGFA, VPS52, VWA7, ZKSCAN3, WDR46, WRNIP1, XPO5, YIPF3, ZBTB12, ZBTB22, ZBTB9, ZFAND3, ZFP57, ZKSCAN4, ZKSCAN8, ZNF165, ZNF184, ZNF311, ZNF318, ZNF322, ZNF391, ZNF76, ZSCAN12, ZSCAN16, ZSCAN16-AS1, ZSCAN23, ZSCAN26, ZSCAN31, ZSCAN9, AARS2, ABCC10, ABCF1, ABHD16A, ABT1, ACOT13, ADTRP, AGER, APOBEC2, AGPAT1, AIF1, ALDH5A1, ANKRD66, ANKS1A, APOM, ARMC12, ARMH2, ATAT1, ATF6B, ATP6V1G2, ATP6V1G2-DDX39B, ATXN1, ATXN1-AS1, B3GALT4, BAG6, BAK1, BICRAL, BLOC1S5, BLOC1S5-TXNDC5, BLTP3A, BMP6, BNIP5, BPHL, BRD2, BRPF3, BRPF3-AS1, BTBD9, BTBD9-AS1, BTN1A1, BTN2A1, BTN2A2, BTN3A1, BTN3A2, BTN3A3, C4A, BTNL2, BYSL, C2, C2-AS1, C4B, C6orf132, C6orf136, C6orf15, C6orf201, C6orf226, C6orf47, C6orf52, C6orf62, C6orf89, CAGE1, CAP2, CAPN11, CARMIL1, CASC15, CCDC167, CCHCR1, CCND3, CD83, CDC5L, CDKAL1, CDKN1A, CDSN, CDYL, CDYL-AS1, CFB, CNPY3, CLIC1, CLIC5, CLPS, CLPSL1, CLPSL2, CMTR1, CNPY3-GNMT, COL11A2, CPNE5, CRIP3, CSNK2B, CUL7, CUL9, CUTA, CYP21A2, CYP39A1, DAAM2, DAAM2-AS1, DAXX, DCDC2, DDAH2, DDR1, DDX39B, DDX39B-AS1, DEF6, DEK, DHX16, DINOL, DLK2, DNAH8, DNAH8-AS1, DNAH8-DT, DNPH1, DSP, DSP-AS1, DTNBP1, DUSP22, DXO, E2F3, E2F3-IT1, ECI2, ECI2-DT, EDN1, EEF1E1, EEF1E1-BLOC1S5, EGFL8, EHMT2, EHMT2-AS1, ELOVL2, ELOVL2-AS1, ENPP4, ENPP5, ERVFRD-1, ERVK9-12, ETV7, ETV7-AS1, EXOC2, F13A1, FAM217A, FAM50B, FAM8A1, FANCE, FARS2, FARS2-AS1, FGD2, FKBP5, FKBPL, FLOT1, FOXC1, FOXCUT, FOXF2, FOXF2-DT, FOXP4, FOXP4-AS1, FOXQ1, FRS3, GABBR1, GCM2, GCNT2, GFOD1, GFOD1-AS1, GLO1, GLP1R, GMDS, GMDS-DT, GMNN, GMPR, GNL1, GNMT, GPANK1, GPLD1, GPSM3, GPX5, GPX6, GRM4, GTF2H4, GTPBP2, GUCA1A, GUCA1ANB, GUCA1ANB-GUCA1A, GUCA1B, H1-1, H1-2, H1-3, H1-4, H1-5, H1-6, H2AC1, H2AC11, H2AC12, H2AC13, H2AC14, H2AC15, H2AC16, H2AC17, H2AC4, H2AC6, H2AC7, H2AC8, H2BC1, H2BC10, H2BC11, H2BC12, H2BC13, H2BC14, H2BC15, H2BC17, H2BC3, H2BC4, H2BC5, H2BC6, H2BC7, H2BC8, H2BC9, H3C1, H3C10, H3C11, H3C12, H3C2, H3C3, H3C4, H3C6, H3C7, H3C8, H4C1, H4C11, H4C12, H4C13, H4C2, H4C3, H4C4, H4C5, H4C6, H4C7, H4C8, H4C9, HCG11, HCG14, HCG15, HCG16, HCG17, HUS1B, HCG18, HCG20, HCG21, HCG22, HCG23, HCG24, HCG25, HLA-DRB5, HCG26, HCG27, HCG4, HLA-DQB1-AS1, HCG4B, HCG9, HCP5, HSP90AB1, HCP5B, HDGFL1, HFE, HFE-AS1, HIVEP1, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-E, HLA-F, HLA-F-AS1, HLA-G, HMGA1, HMGN4, HSD17B8, HSPA1A, HSPA1B, HSPA1L, HULC, ID4, IER3, IER3-AS1, ILRUN, ILRUN-AS1, IP6K3, IRF4, ITPR3, ITPR3-AS1, JARID2, JARID2-AS1, KAAG1, KCNK16, KCNK17, KCNK5, KCTD20, KDM1B, KIAA0319, KIF13A, KIF6, KIFC1, KLC4, KLHDC3, KU-MEL-3, LARRPM, LEMD2, LHFPL5, LINC00240, LINC00243, LINC00336, LINC00518, LINC00533, LINC00581, LINC00951, LINC01011, LINC01012, LINC01015, LINC01016, LINC01108, LINC01149, LINC01276, LINC01394, LINC01512, LINC01556, LINC01600, LINC01622, LINC01623, LINC02520, LINC02521, LINC02522, LINC02525, LINC02530, LINC02533, LINC02537, LINC02543, LINC02569, LINC02570, LINC02571, LINC02828, LINC02829, LINC03003, LINC03005, LINC03040, LINC03066, LNC-LBCS, LOC100130357, LOC100131289, LOC100287329, LOC100294145, LOC100422781, LOC100506207, LOC100507547, LOC101926915, LOC101927691, LOC101927759, LOC101927950, LOC101928191, LOC101928253, LOC101928491, LOC101928519, LOC101928663, LOC101929555, LOC102724096, LOC105374960, LOC105374988, LOC105375075, LOC105379699, LOC106780800, LOC106780803, LOC106780804, LOC106794091, LOC106799837, LOC106799842, LOC107063610, LOC107403164, LOC107648851, LOC108663993, LOC107648856, LOC107648859, LOC107648863, LOC107648864, LOC107648866, LOC107986531, LOC107986596, LOC108004539, LOC108281120, LOC108281124, LOC108281148, LOC108961161, LOC109611589, LOC109611593, LOC110120645, LOC110120976, LOC110120988, LOC110121016, LOC110121052 | | See cases | Pathogenic
(Jul 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr6:37745145-45621580
- GRCh38:
- Chr6:37777369-45653843
| AARS2, ABCC10, APOBEC2, BICRAL, BTBD9, BTBD9-AS1, BYSL, C6orf132, C6orf226, CAPN11, CCND3, CDC5L, CNPY3, CNPY3-GNMT, CRIP3, CUL7, CUL9, DAAM2, DAAM2-AS1, DLK2, DNAH8, DNAH8-AS1, DNAH8-DT, DNPH1, FOXP4, FOXP4-AS1, FRS3, GLO1, GLP1R, GNMT, GTPBP2, GUCA1A, GUCA1ANB, GUCA1ANB-GUCA1A, GUCA1B, HSP90AB1, KCNK16, KCNK17, KCNK5, KIF6, KLC4, KLHDC3, LINC00951, LINC01276, LINC01512, LINC02537, LINC03040, LOC101929555, LOC105375075, LOC105379699, LOC107986596, LOC109611589, LOC109611593, LOC110120645, LOC110120988, LOC110121080, LOC111721708, LOC111828527, LOC111828528, LOC113175000, LOC113175001, LOC113175002, LOC113175003, LOC113175004, LOC113175005, LOC114827825, LOC116183061, LOC116183062, LOC116183063, LOC120285838, LOC121132683, LOC121132684, LOC121132685, LOC121132686, LOC123620108, LOC123620109, LOC123620110, LOC123620111, LOC123620112, LOC123620113, LOC123620114, LOC123620115, LOC123620116, LOC123620117, LOC123620118, LOC123620119, LOC123620120, LOC123620121, LOC123620122, LOC123620123, LOC123620124, LOC123620125, LOC123620126, LOC123620127, LOC123744813, LOC126859667, LOC126859668, LOC126859669, LOC126859670, LOC126859671, LOC126859672, LOC126859673, LOC126859674, LOC126859675, LOC126859676, LOC126859677, LOC126859678, LOC126859679, LOC126859680, LOC401261, LRFN2, LRRC73, MAD2L1BP, MDFI, MEA1, MED20, MIR10398, MIR4641, MIR4642, MIR4647, MIR586, MIR6780B, MIR9983, MOCS1, MRPL14, MRPL2, MRPS10, MRPS18A, MYMX, NCR2, NFKBIE, NFYA, OARD1, PEX6, PGC, POLH, POLR1C, PPP2R5D, PRICKLE4, PRPH2, PTCRA, PTK7, RPL7L1, RRP36, RSPH9, RUNX2, RUNX2-AS1, SAYSD1, SCIRT, SLC22A7, SLC29A1, SLC35B2, SPATS1, SRF, SUPT3H, TAF8, TBCC, TCTE1, TDRG1, TFEB, TJAP1, TMEM151B, TMEM63B, TOMM6, TREM1, TREM2, TREML1, TREML2, TREML4, TRERF1, TSPO2, TTBK1, UBR2, UNC5CL, USP49, VEGFA, XPO5, YIPF3, ZFAND3, ZNF318 | | See cases | Pathogenic
(Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr6:41126693
- GRCh38:
- Chr6:41158955
| TREM2 | W198* | Frontotemporal dementia | Pathogenic
(Jun 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:41129275
- GRCh38:
- Chr6:41161537
| TREM2 | D39E | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, not provided | Uncertain significance
(Oct 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:41605799-46480686
- GRCh38:
- Chr6:41638061-46512949
| AARS2, ABCC10, BICRAL, BYSL, C6orf132, C6orf226, CAPN11, CCND3, CDC5L, CLIC5, CNPY3, CNPY3-GNMT, CRIP3, CUL7, CUL9, DLK2, DNPH1, ENPP4, ENPP5, FRS3, GNMT, GTPBP2, GUCA1A, GUCA1ANB, GUCA1ANB-GUCA1A, GUCA1B, HSP90AB1, KLC4, KLHDC3, LINC01512, LINC02537, LINC03040, LOC101926915, LOC105375075, LOC107986596, LOC109611589, LOC109611593, LOC110121112, LOC111721708, LOC111828528, LOC113175003, LOC113175004, LOC113175005, LOC116183061, LOC116183062, LOC116183063, LOC121132684, LOC121132685, LOC121132686, LOC123620117, LOC123620118, LOC123620119, LOC123620120, LOC123620121, LOC123620122, LOC123620123, LOC123620124, LOC123620125, LOC123620126, LOC123620127, LOC123744813, LOC123744814, LOC126859675, LOC126859676, LOC126859677, LOC126859678, LOC126859679, LOC126859680, LOC126859681, LOC126859682, LOC401261, LRRC73, MAD2L1BP, MDFI, MEA1, MED20, MIR10398, MIR4642, MIR4647, MIR586, MIR6780B, MRPL14, MRPL2, MRPS10, MRPS18A, MYMX, NFKBIE, PEX6, PGC, POLH, POLR1C, PPP2R5D, PRICKLE4, PRPH2, PTCRA, PTK7, RCAN2, RCAN2-DT, RPL7L1, RRP36, RSPH9, RUNX2, RUNX2-AS1, SCIRT, SLC22A7, SLC29A1, SLC35B2, SPATS1, SRF, SUPT3H, TAF8, TBCC, TCTE1, TFEB, TJAP1, TMEM151B, TMEM63B, TOMM6, TRERF1, TTBK1, UBR2, USP49, VEGFA, XPO5, YIPF3, ZNF318 | | See cases | Pathogenic
(Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr6:42336296-44558281
- GRCh38:
- Chr6:42368558-44590544
| AARS2, ABCC10, BICRAL, C6orf226, CAPN11, CDC5L, CNPY3, CNPY3-GNMT, CRIP3, CUL7, CUL9, DLK2, DNPH1, GNMT, GTPBP2, HSP90AB1, KLC4, KLHDC3, LINC01512, LINC02537, LINC03040, LOC105375075, LOC107986596, LOC113175004, LOC113175005, LOC116183063, LOC121132684, LOC121132685, LOC123620120, LOC123620121, LOC123620122, LOC123620123, LOC123620124, LOC123620125, LOC123620126, LOC123620127, LOC126859676, LOC126859677, LOC126859678, LOC126859679, LOC401261, LRRC73, MAD2L1BP, MEA1, MIR4642, MIR4647, MIR6780B, MRPL14, MRPL2, MRPS18A, MYMX, NFKBIE, PEX6, POLH, POLR1C, PPP2R5D, PRPH2, PTCRA, PTK7, RPL7L1, RRP36, RSPH9, SCIRT, SLC22A7, SLC29A1, SLC35B2, SPATS1, SRF, TBCC, TCTE1, TJAP1, TMEM151B, TMEM63B, TRERF1, TTBK1, UBR2, VEGFA, XPO5, YIPF3, ZNF318 | | See cases | Pathogenic
(Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43214426
- GRCh38:
- Chr6:43246688
| TTBK1 | D10H | Inborn genetic diseases | Uncertain significance
(Nov 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43214429
- GRCh38:
- Chr6:43246691
| TTBK1 | E11K | Inborn genetic diseases | Uncertain significance
(Dec 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43220559
- GRCh38:
- Chr6:43252821
| TTBK1 | V64A | Inborn genetic diseases | Uncertain significance
(Dec 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43221052
- GRCh38:
- Chr6:43253314
| TTBK1 | I94V | Inborn genetic diseases | Uncertain significance
(Oct 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43221303
- GRCh38:
- Chr6:43253565
| TTBK1 | | not specified | Uncertain significance
(May 12, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43222362
- GRCh38:
- Chr6:43254624
| TTBK1 | | not provided | Benign
(May 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43222839
- GRCh38:
- Chr6:43255101
| TTBK1 | A210V | Inborn genetic diseases | Uncertain significance
(Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43223383
- GRCh38:
- Chr6:43255645
| TTBK1 | | Neurodevelopmental abnormality | Likely benign
(Sep 3, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr6:43223506
- GRCh38:
- Chr6:43255768
| TTBK1 | R258Q | Childhood-Onset Schizophrenia | Likely pathogenic
(Jan 1, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43227002
- GRCh38:
- Chr6:43259264
| TTBK1 | G415S | Inborn genetic diseases | Uncertain significance
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43227297
- GRCh38:
- Chr6:43259559
| TTBK1 | R426Q | Inborn genetic diseases | Uncertain significance
(Aug 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43227335
- GRCh38:
- Chr6:43259597
| TTBK1 | P439A | Inborn genetic diseases | Uncertain significance
(Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43227374
- GRCh38:
- Chr6:43259636
| TTBK1 | R452W | Inborn genetic diseases | Uncertain significance
(Oct 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43230716
- GRCh38:
- Chr6:43262978
| TTBK1 | | not provided | Benign
(Jul 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43230879
- GRCh38:
- Chr6:43263141
| TTBK1 | V593I | Inborn genetic diseases | Uncertain significance
(Dec 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43230940
- GRCh38:
- Chr6:43263202
| TTBK1 | P613L | not provided | Benign
(Jul 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43230970
- GRCh38:
- Chr6:43263232
| TTBK1 | G623A | not provided | Benign
(Feb 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43230978
- GRCh38:
- Chr6:43263240
| TTBK1 | R626C | Inborn genetic diseases | Uncertain significance
(Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43231041
- GRCh38:
- Chr6:43263303
| TTBK1 | P647S | Inborn genetic diseases | Uncertain significance
(Oct 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43250483
- GRCh38:
- Chr6:43282745
| TTBK1 | P669S | Inborn genetic diseases | Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43250508
- GRCh38:
- Chr6:43282770
| TTBK1 | R677Q | Inborn genetic diseases | Uncertain significance
(Nov 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43250515
- GRCh38:
- Chr6:43282777
| TTBK1 | | not provided | Benign
(May 8, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43250567
- GRCh38:
- Chr6:43282829
| TTBK1 | E697K | Inborn genetic diseases | Uncertain significance
(May 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43250582
- GRCh38:
- Chr6:43282844
| TTBK1 | L702F | Inborn genetic diseases | Uncertain significance
(Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43250933
- GRCh38:
- Chr6:43283195
| TTBK1 | R819W | Inborn genetic diseases | Uncertain significance
(Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43251020
- GRCh38:
- Chr6:43283282
| TTBK1 | P848S | Inborn genetic diseases | Uncertain significance
(Sep 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43251078
- GRCh38:
- Chr6:43283340
| TTBK1 | P867L | Inborn genetic diseases | Uncertain significance
(Dec 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43251085
- GRCh38:
- Chr6:43283347
| TTBK1 | H869Q | Inborn genetic diseases | Likely benign
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43251197
- GRCh38:
- Chr6:43283459
| TTBK1 | G907R | Inborn genetic diseases | Uncertain significance
(Nov 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43251298
- GRCh38:
- Chr6:43283560
| TTBK1 | | not provided | Benign
(Jul 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43251344
- GRCh38:
- Chr6:43283606
| TTBK1 | A956T | Inborn genetic diseases | Likely benign
(Oct 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43251440
- GRCh38:
- Chr6:43283702
| TTBK1 | L988M | Inborn genetic diseases | Uncertain significance
(Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43251486
- GRCh38:
- Chr6:43283748
| TTBK1 | R1003Q | Inborn genetic diseases | Uncertain significance
(Dec 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43251637
- GRCh38:
- Chr6:43283899
| TTBK1 | | not provided | Benign
(Aug 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43251711
- GRCh38:
- Chr6:43283973
| TTBK1 | R1078Q | Inborn genetic diseases | Uncertain significance
(Dec 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43251725
- GRCh38:
- Chr6:43283987
| TTBK1 | A1083S | Inborn genetic diseases | Uncertain significance
(Mar 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43251732
- GRCh38:
- Chr6:43283994
| TTBK1 | P1085L | Inborn genetic diseases | Likely benign
(Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43251858
- GRCh38:
- Chr6:43284120
| TTBK1 | T1127M | Inborn genetic diseases | Uncertain significance
(Dec 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43251894
- GRCh38:
- Chr6:43284156
| TTBK1 | A1139G | Inborn genetic diseases | Uncertain significance
(Jan 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43251912
- GRCh38:
- Chr6:43284174
| TTBK1 | K1145R | not provided | Benign
(Dec 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43252029
- GRCh38:
- Chr6:43284291
| TTBK1 | L1184S | not provided | Benign
(Dec 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43252818
- GRCh38:
- Chr6:43285080
| TTBK1 | G1224R | Inborn genetic diseases | Uncertain significance
(Nov 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43252875
- GRCh38:
- Chr6:43285137
| TTBK1 | R1243C | Inborn genetic diseases | Uncertain significance
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43252924
- GRCh38:
- Chr6:43285186
| TTBK1 | S1259I | Inborn genetic diseases | Uncertain significance
(Jan 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:43252968
- GRCh38:
- Chr6:43285230
| TTBK1 | R1274W | Inborn genetic diseases | Uncertain significance
(Sep 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:42162409-44154249
| PTK7, RPL7L1, SRF, TBCC, TJAP1, TMEM63B, RRP36, RSPH9, SLC22A7, ABCC10, BICRAL, C6orf226, CAPN11, CNPY3, CRIP3, CUL7, CUL9, DLK2, DNPH1, GNMT, GTPBP2, GUCA1B, KLC4, KLHDC3, LINC03040, LRRC73, MAD2L1BP, MEA1, MRPL14, MRPL2, MRPS10, MRPS18A, PEX6, POLH, POLR1C, PPP2R5D, PRPH2, PTCRA, TRERF1, TTBK1, UBR2, VEGFA, XPO5, YIPF3, ZNF318 | | not provided | Uncertain significance
(Dec 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:41126341-43737486
| TJAP1, TREML4, PRPH2, CUL9, YIPF3, MAD2L1BP, TOMM6, XPO5, BYSL, USP49, MDFI, MRPS18A, BICRAL, PTK7, SRF, SLC22A7, ABCC10, TBCC, TAF8, TFEB, ZNF318, PGC, FOXP4, FRS3, DNPH1, TREM2, KLC4, C6orf132, TREM1, MRPL2, UBR2, C6orf226, CNPY3, LRRC73, PTCRA, CCND3, GNMT, GUCA1A, MED20, GUCA1B, PPP2R5D, DLK2, CRIP3, TRERF1, RRP36, GTPBP2, NCR2, RSPH9, PRICKLE4, MRPS10, PEX6, TREML2, MEA1, POLR1C, RPL7L1, KLHDC3, POLH, CUL7, TTBK1 | | PRPH2-Related Disorders | Uncertain significance
(Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:41126341-43752536
| PEX6, POLH, POLR1C, RRP36, RSPH9, PGC, SLC22A7, SRF, TAF8, ABCC10, BICRAL, BYSL, C6orf132, C6orf226, CCND3, CNPY3, CRIP3, CUL7, CUL9, DLK2, DNPH1, FOXP4, FRS3, GNMT, GTPBP2, GUCA1A, GUCA1B, KLC4, KLHDC3, LRRC73, MAD2L1BP, MDFI, MEA1, MED20, MRPL2, MRPS10, MRPS18A, NCR2, PPP2R5D, PRICKLE4, PRPH2, PTCRA, PTK7, RPL7L1, TBCC, TFEB, TJAP1, TOMM6, TREM1, TREM2, TREML2, TREML4, TRERF1, TTBK1, UBR2, USP49, VEGFA, XPO5, YIPF3, ZNF318 | | Peroxisome biogenesis disorder | Pathogenic
(Aug 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:42928506-43737486
| GNMT, KLHDC3, RSPH9, POLH, MRPL2, CUL7, PEX6, XPO5, SRF, POLR1C, KLC4, DNPH1, LRRC73, CRIP3, ABCC10, CUL9, SLC22A7, RRP36, TTBK1, MAD2L1BP, ZNF318, MRPS18A, TJAP1, PPP2R5D, YIPF3, DLK2, PTK7, GTPBP2, MEA1 | | not provided | Pathogenic
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:29455465-81447367
| AARS2, ABCC10, ABCF1, ABHD16A, ADGRB3, ADGRF1, ADGRF2, ADGRF4, ADGRF5, AGER, BLTP3A, AGPAT1, AIF1, ANKRD66, ANKS1A, APOBEC2, APOM, ARMC12, ATAT1, ATF6B, ATP6V1G2, B3GALT4, B3GAT2, BAG2, BAG6, BAK1, BCKDHB, BEND6, BICRAL, BMP5, BNIP5, BRD2, BRPF3, BTBD9, BTNL2, BYSL, C2, C4A, C4B, C6orf132, C6orf136, C6orf141, CCDC167, C6orf15, C6orf226, C6orf47, C6orf89, CAPN11, CCHCR1, CCND3, CD109, CD2AP, CDC5L, CDKN1A, CDSN, CENPQ, CFB, CGAS, CILK1, CLIC1, CLIC5, CLPS, CLPSL1, CLPSL2, CMTR1, CNPY3, COL11A2, COL12A1, COL19A1, COL21A1, COL9A1, COX7A2, CPNE5, CRIP3, CRISP1, CRISP2, CRISP3, CSNK2B, CUL7, CUL9, CUTA, CYP21A2, CYP39A1, DAAM2, DAXX, DDAH2, DDR1, DDX39B, DDX43, DEF6, DEFB110, DEFB112, DEFB113, DEFB114, DHX16, DLK2, DNAH8, DNPH1, DPPA5, DXO, EEF1A1, EFHC1, EGFL8, EHMT2, ELOVL4, ELOVL5, ENPP4, ENPP5, ERVH-3, ETV7, EYS, FAM135A, FAM83B, FANCE, FBXO9, FGD2, FILIP1, FKBP5, FKBPL, FLOT1, FOXP4, FRS3, GABBR1, GCLC, GCM1, GFRAL, GLO1, GLP1R, GLYATL3, GNL1, GNMT, GPANK1, GPSM3, GRM4, GSTA1, GSTA2, GSTA3, GSTA4, GSTA5, GTF2H4, GTPBP2, GUCA1A, GUCA1B, HCG17, HLA-DRB5, HCG22, HCG26, HCP5, HCRTR2, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-E, HLA-F, HLA-G, HMGA1, HMGCLL1, HMGN3, HSD17B8, HSP90AB1, HSPA1A, HSPA1B, HSPA1L, HTR1B, IER3, IL17A, IL17F, ILRUN, IMPG1, IP6K3, IRAK1BP1, ITPR3, KCNK16, KCNK17, KCNK5, KCNQ5, KCTD20, KHDC1, KHDC1L, KHDC3L, KHDRBS2, KIAA1586, KIF6, KIFC1, KLC4, KLHDC3, KLHL31, LCA5, LEMD2, LGSN, LHFPL5, LINC00951, LINC01621, LINC03040, LMBRD1, LOC101926915, LOC101927189, LRFN2, LRRC1, LRRC73, LSM2, LST1, LTA, LTB, LY6G5B, LY6G5C, LY6G6C, LY6G6D, LY6G6F, MAD2L1BP, MAPK13, MAPK14, MAS1L, MCCD1, MCM3, MDC1, MDFI, MDGA1, MEA1, MED20, MEP1A, MICA, MICB, MIR133B, MIR206, MIR219A1, MIR30A, MIR877, MLIP, MLN, MMUT, MOCS1, MOG, NCR2, MPIG6B, MRPL14, MRPL2, MRPS10, MRPS18A, MRPS18B, MSH5, MTCH1, MTO1, MUC21, MUC22, MUCL3, MYO6, NCR3, NELFE, NEU1, NFKBIE, NFKBIL1, NFYA, NOTCH4, NRM, NUDT3, OARD1, OGFRL1, OOEP, OPN5, OR2H2, PACSIN1, PAQR8, PBX2, PEX6, PFDN6, PGC, PGK2, PHF1, PHF3, PHIP, PI16, PIM1, PKHD1, PLA2G7, PNPLA1, POLH, POLR1C, POLR1H, POU5F1, PPARD, PPIL1, PPP1R10, PPP1R11, PPP1R18, PPP2R5D, PPT2, PRICKLE4, PRPH2, PRR3, PRRC2A, PRRT1, PSMB8, PSMB9, PSORS1C1, PSORS1C2, PTCHD4, PTCRA, PTK7, PTP4A1, PXT1, RAB23, RAB44, RCAN2, RGL2, RHAG, RIMS1, RING1, RN7SK, RNF39, RNF5, RNF8, RPL10A, RPL7L1, RPP21, RPS10, RPS18, RRP36, RSPH9, RUNX2, SENP6, RXRB, SAPCD1, SAYSD1, SCUBE3, SDHAF4, SFTA2, SH3BGRL2, SKIC2, SLC17A5, SLC22A7, SLC25A27, SLC26A8, SLC29A1, SLC35B2, SLC39A7, SLC44A4, SMAP1, SMIM29, SNHG32, SNRPC, SPATS1, SPDEF, SRF, SRPK1, SRSF3, STK19, STK38, SUPT3H, SYNGAP1, TAF11, TAF8, TAP1, TAP2, TAPBP, TBC1D22B, TBCC, TCF19, TCP11, TCTE1, TDRD6, TEAD3, TFAP2B, TFAP2D, TFEB, TINAG, TJAP1, TMEM14A, TMEM151B, TMEM217, TMEM30A, TMEM63B, TNF, TNFRSF21, TNXB, TOMM6, TRAM2, TREM1, TREM2, TREML1, TREML2, TREML4, TRERF1, TRIM10, TRIM15, TSPO2, TRIM26, TRIM31, TRIM39, TRIM39-RPP21, TRIM40, TSBP1, TTBK1, TTK, TUBB, TULP1, UBD, UBR2, UNC5CL, UQCC2, USP49, VARS1, VARS2, VEGFA, YIPF3, VPS52, VWA7, WDR46, XPO5, ZBTB12, ZBTB22, ZBTB9, ZFAND3, ZFP57, ZNF318, ZNF451, ZNF76 | | not provided | Pathogenic
(Nov 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:165632-170919470
| POU5F1, PPARD, PPIL1, TAP2, TAPBP, TBC1D22B, MICAL1, MICB, MIR133B, MIR206, MIR219A1, MIR30A, MIR877, MLIP, MLN, MMS22L, MMUT, MOCS1, MOG, MOXD1, MPC1, MPIG6B, MRAP2, MRPL14, MRPL18, MRPL2, MRPS10, MRPS18A, MRPS18B, MRS2, MSH5, MTCH1, MTFR2, MTHFD1L, MTO1, MTRES1, MTRF1L, MUC21, MUC22, MUCL3, MYB, MYCT1, MYLIP, MYLK4, MYO6, NCOA7, NCR2, NCR3, NDUFAF4, NEDD9, NELFE, NEU1, NFKBIE, NFKBIL1, NFYA, NHLRC1, NHSL1, NKAIN2, NKAPL, NMBR, NOL7, NOTCH4, NOX3, NQO2, NR2E1, NRM, NRN1, NRSN1, NT5DC1, NT5E, NUDT3, NUP153, NUP43, NUS1, OARD1, OFCC1, OGFRL1, OLIG3, OOEP, OPN5, OPRM1, OR10C1, OR11A1, OR12D2, OR12D3, OR14J1, OR2A4, OR2B2, OR2B3, OR2B6, OR2H1, PACSIN1, OR2H2, OR2J2, OR2J3, OR2W1, OR5V1, ORC3, OSTM1, PACRG, PAK1IP1, PAQR8, PBOV1, PBX2, PCMT1, PDCD2, PDE10A, PDE7B, PDSS2, PERP, PEX3, PEX6, PEX7, PFDN6, PGBD1, PGC, PGK2, PGM3, PHACTR1, PHACTR2, PHF1, PHF10, PHF3, PHIP, PI16, PIM1, PKHD1, PKIB, PLA2G7, PLAGL1, PLEKHG1, PLG, PLN, PM20D2, PNISR, PNLDC1, PNPLA1, PNRC1, POLH, POLR1C, PPIL4, POLR1H, POM121L2, POPDC3, POU3F2, PPIL6, PPP1R10, PPP1R11, PPP1R14C, PPP1R18, PPP1R3G, PPP2R5D, PPT2, PRDM1, PRDM13, PREP, PRICKLE4, PRKN, PRL, PRPF4B, PRPH2, PRR18, PRR3, PRRC2A, PRRT1, PRSS16, PRSS35, PSMB1, PTP4A1, PSMB8, PSMB9, PSMG4, PTK7, PSORS1C1, PSORS1C2, PTCHD4, PTCRA, PTPRK, PXDC1, PXT1, QKI, QRSL1, RAB23, RAB32, RAB44, RAET1E, RAET1G, RAET1L, RANBP9, RARS2, RBM24, RCAN2, REPS1, REV3L, RFPL4B, RFX6, RGL2, RGS17, RHAG, RIMS1, RING1, RIOK1, RIPK1, RIPOR2, RIPPLY2, RMND1, RN7SK, RNASET2, RNF144B, RNF146, RNF182, RNF217, RNF217-AS1, RNF39, RNF5, RNF8, RNGTT, ROS1, RPF2, RPL10A, RPL7L1, RPS6KA2, RPP21, RPP40, RPS10, RPS12, RPS18, RRAGD, RREB1, RRP36, RSPH3, RSPH4A, RSPH9, RSPO3, RTN4IP1, RUNX2, RWDD1, RWDD2A, SAYSD1, RXRB, SAMD3, SAMD5, SAPCD1, SASH1, SCAF8, SCAND3, SCGN, SCML4, SCUBE3, SDHAF4, SDIM1, SEC63, SENP6, SERAC1, SERINC1, SERPINB1, SERPINB6, SERPINB9, SESN1, SF3B5, SFT2D1, SFTA2, SGK1, SH3BGRL2, SHPRH, SIM1, SIRT5, SKIC2, SLC16A10, SLC17A1, SLC17A2, SLC17A3, SLC17A4, SLC17A5, SLC18B1, SLC22A1, SLC22A16, SLC22A2, SLC22A23, SLC22A3, SLC22A7, SLC25A27, SLC26A8, SLC29A1, SLC2A12, SLC35A1, SLC35B2, SLC35B3, SLC35D3, SLC35F1, SLC39A7, SLC44A4, SMAP1, SMIM13, SMIM29, SMIM8, SMLR1, SMOC2, SMPD2, SMPDL3A, SNAP91, SNHG32, SNHG5, SNORD50A, SNORD50B, SNRNP48, SNRPC, SNX14, SNX3, SNX9, SOBP, SOD2, SOGA3, SOX4, SPACA1, SPATS1, SPDEF, SRF, SRPK1, SRSF12, SRSF3, SSR1, STK19, STK38, STMND1, STX11, STX7, STXBP5, SUMO4, SUPT3H, SYCP2L, SYNCRIP, SYNE1, SYNE1-AS1, SYNGAP1, SYNJ2, SYTL3, TAAR1, TAAR2, TAAR5, TAAR6, TAAR8, TAAR9, TAB2, TAF11, TAF8, TAGAP, TAP1, TBC1D32, TBC1D7, TBCC, TBP, TBPL1, TBX18, TBXT, TCF19, TCF21, TCP1, TCP11, TCTE1, TDP2, TDRD6, TEAD3, TENT5A, TFAP2A, TFAP2B, TFAP2D, TFB1M, TFEB, THBS2, THEMIS, TIAM2, TINAG, TJAP1, TMEM14A, TMEM14B, TMEM14C, TMEM151B, TMEM170B, TMEM181, TMEM200A, TMEM217, TMEM242, TMEM244, TMEM30A, TMEM63B, TNF, TNFAIP3, TNFRSF21, TNXB, TOMM6, TPBG, TPD52L1, TPMT, TRA-TGC7-1, TRAF3IP2, TRAF3IP2-AS1, TRAM2, TRAPPC3L, TRDN, TREM1, TREM2, TREML1, TREML2, TREML4, TRERF1, TRIM10, TRIM15, TRIM38, TRIM26, TRIM27, TRIM31, TRIM39, TRIM39-RPP21, TRIM40, TRMT11, TRR-TCG4-1, TRS-AGA2-3, TRS-TGA2-1, TRS-TGA4-1, TRX-CAT1-2, TRX-CAT2-1, TSBP1, TSPO2, TSPYL1, TSPYL4, TSTD3, TTBK1, TTK, TTLL2, TUBB, TUBB2A, TUBB2B, TUBE1, TULP1, TULP4, TXLNB, UBD, UBE2J1, UBE3D, UBR2, UFL1, ULBP1, ULBP2, ULBP3, UNC5CL, UNC93A, UQCC2, USP45, USP49, UST, UTRN, VARS1, VARS2, VEGFA, VGLL2, VIP, VNN1, VNN2, VNN3, VPS52, VTA1, VWA7, WASF1, WDR27, WDR46, WRNIP1, WTAP, XPO5, YIPF3, ZBTB12, ZBTB2, ZBTB22, ZBTB24, ZBTB9, ZC2HC1B, ZC3H12D, ZDHHC14, ZFAND3, ZNF184, ZFP57, ZKSCAN3, ZKSCAN4, ZKSCAN8, ZNF165, ZNF292, ZNF311, ZNF318, ZNF322, ZNF391, ZNF451, ZNF76, ZSCAN12, ZSCAN16, ZSCAN23, ZSCAN26, ZSCAN31, ZSCAN9, ZUP1, AARS2, ABCC10, ABCF1, ABHD16A, ABRACL, ABT1, ACAT2, ACOT13, ADAT2, ADGB, ADGRB3, ADGRF1, ADGRF2, ADGRF4, ADGRF5, ADGRG6, ADTRP, AFDN, AFG1L, AGER, AIRN, AGPAT1, AGPAT4, AHI1, AIF1, AIG1, AK9, AKAP12, AKAP7, AKIRIN2, ALDH5A1, ALDH8A1, AMD1, ANKRD6, ANKRD66, ANKS1A, APOBEC2, ARMC12, APOM, ARFGEF3, ARG1, ARHGAP18, ARID1B, ARMC2, ARMT1, ASCC3, ASF1A, ATAT1, ATF6B, ATG5, ATP6V1G2, ATXN1, BAK1, B3GALT4, B3GAT2, BACH2, BAG2, BAG6, BCKDHB, BCLAF1, BEND3, BEND6, BICRAL, BLOC1S5, BLTP3A, BMP5, BMP6, BNIP5, BPHL, BTN2A2, BRD2, BRPF3, BTBD9, BTN1A1, BTN2A1, BTN3A1, BTN3A2, BTN3A3, BTNL2, BVES, BYSL, C2, C4A, C4B, C6orf118, C6orf120, C6orf132, C6orf136, C6orf141, C6orf15, C6orf163, C6orf201, C6orf226, C6orf47, C6orf52, C6orf58, C6orf62, C6orf89, CAGE1, CALHM4, CALHM5, CALHM6, CAP2, CAPN11, CARMIL1, CASP8AP2, CCDC167, CCDC170, CCDC28A, CCHCR1, CCN2, CCN6, CCNC, CCND3, CCR6, CD109, CD164, CD2AP, CD83, CDC40, CDC5L, CDK19, CDKAL1, CDKN1A, CDSN, CDYL, CENPQ, CENPW, CEP162, CEP43, CEP57L1, CEP85L, CFAP206, CFB, CGA, CGAS, CILK1, CITED2, CLDN20, CLIC1, CLIC5, CLPS, CLPSL1, CLPSL2, CLVS2, CMTR1, CNKSR3, CNPY3, CNR1, COL10A1, COL11A2, COL12A1, COL19A1, COL21A1, COL9A1, COQ3, COX7A2, CPNE5, CRIP3, CRISP1, CRISP2, CRISP3, CRYBG1, CSNK2B, CTAGE9, CUL7, CUL9, CUTA, CYB5R4, DCBLD1, CYP21A2, CYP39A1, DAAM2, DACT2, DAXX, DCDC2, DDAH2, DDO, DDR1, DDX39B, DDX43, DEF6, DEFB110, DEFB112, DEFB113, DEFB114, DEK, DHX16, DLK2, DLL1, DNAH8, DNPH1, DOP1A, DPPA5, DSE, DSP, DTNBP1, DUSP22, DXO, DYNLT1, DYNLT2, E2F3, ECHDC1, ECI2, ECT2L, EDN1, EEF1A1, EEF1E1, EFHC1, EGFL8, ENPP3, EHMT2, ELOVL2, ELOVL4, ELOVL5, ENPP1, ENPP4, ENPP5, EPB41L2, EPHA7, EPM2A, ERMARD, ERVFRD-1, ERVH-3, ESR1, ETV7, EXOC2, EYA4, EYS, EZR, F13A1, FABP7, FAM120B, FAM135A, FAM162B, FAM184A, FAM217A, FAM229B, FAM50B, FAM83B, FAM8A1, FANCE, FARS2, FAXC, FBXL4, FBXO30, FBXO5, FBXO9, FGD2, FHL5, FIG4, FILIP1, FKBP5, FKBPL, FLOT1, FNDC1, FOXC1, FOXF2, FOXO3, FOXP4, FOXQ1, FRK, FRMD1, FRS3, FUCA2, FUT9, FYN, GCM2, GABBR1, GABRR1, GABRR2, GCLC, GCM1, GCNT2, GFOD1, GFRAL, GINM1, GJA1, GJA10, GJB7, GLO1, GLP1R, GLYATL3, GMDS, GMNN, GMPR, GNL1, GNMT, GOPC, GPANK1, GPLD1, GPR31, GPR6, GPR63, GPRC6A, GPSM3, GPX5, GPX6, GRIK2, GRM1, GRM4, GSTA1, GSTA2, GSTA3, GSTA4, GSTA5, GTF2H4, GTF2H5, GTF3C6, GTPBP2, GUCA1A, GUCA1B, H1-1, H1-2, H1-3, H1-4, H1-5, H1-6, H2AC1, H2AC11, H2AC12, H2AC13, H2AC14, H2AC15, H2AC16, H2AC17, H2AC4, H2AC6, H2AC7, H2AC8, H2BC1, H2BC10, H2BC11, H2BC12, H2BC13, H2BC14, H2BC15, H2BC17, H2BC3, H2BC4, H2BC5, H2BC6, H2BC7, H2BC8, H2BC9, H3C1, H3C10, H3C11, H3C12, H3C2, H3C3, H3C4, H3C6, H3C7, H3C8, H4C1, H4C11, H4C12, H4C13, H4C2, H4C3, H4C4, H4C5, H4C6, H4C7, H4C8, H4C9, HACE1, HBS1L, HECA, HCG17, HCG22, HCG26, HCP5, HCRTR2, HDAC2, HDDC2, HDGFL1, HEBP2, HEY2, HFE, HINT3, HIVEP1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, HS3ST5, HLA-G, HMGA1, HMGCLL1, HMGN3, HMGN4, HSD17B8, HSF2, HSP90AB1, HSPA1A, HSPA1B, HSPA1L, HTR1B, HTR1E, HULC, HUS1B, HYMAI, IBTK, ID4, IER3, IFNGR1, IGF2R, IL17A, IL17F, IL20RA, IL22RA2, ILRUN, IMPG1, IP6K3, IPCEF1, IRAK1BP1, IRF4, ITPR3, IYD, JARID2, KAAG1, KATNA1, KCNK16, KCNK17, KCNK5, KCNQ5, KCTD20, KDM1B, KHDC1, KHDC1L, KHDC3L, KHDRBS2, KIAA0319, KIAA0408, KIAA1586, KIF13A, KIF25, KIF6, KIFC1, KLC4, KLHDC3, KLHL31, KLHL32, KPNA5, KU-MEL-3, L3MBTL3, LAMA2, LAMA4, LATS1, LCA5, LEMD2, LGSN, LHFPL5, LIN28B, LINC00951, LINC01600, LINC01621, LINC02487, LINC02539, LINC02901, LINC03040, LMBRD1, LOC101926915, LOC101927189, LOC729681, LPA, LRFN2, LRP11, LRRC1, LRRC73, MAN1A1, LSM2, LST1, LTA, LTB, LTV1, LY6G5B, MANEA, LY6G5C, LY6G6C, LY6G6D, LY6G6F, LY86, LYRM2, LYRM4, MAD2L1BP, MAK, MAP3K4, MAP3K5, MAP3K7, MAP7, MAPK13, MAPK14, MARCKS, MAS1, MAS1L, MBOAT1, MEA1, MCCD1, MCHR2, MCM3, MCM9, MCUR1, MDC1, MDFI, MDGA1, MDN1, ME1, MED20, MED23, MEP1A, METTL24, MFSD4B, MICA | | not provided | Pathogenic
(Oct 31, 2014) | no assertion criteria provided |