U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 107

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:106431-18360826
GRCh38:
Chr6:106431-18360595
LOC113174985, LOC113174986, LOC113174998, LOC113174999, LOC113175008, LOC113175009, LOC113175013, LOC113175014, LOC113175015, LOC113175016, LOC114827828, LOC116158537, LOC116158538, LOC116158539, LOC116158540, LOC116158541, LOC116158542, LOC116158543, LOC116158544, LOC116158545, LOC116158546, LOC116158547, LOC121099719, LOC121099720, LOC121099721, LOC121099722, LOC121099724, LOC121106426, LOC121113497, LOC121113498, LOC121113499, LOC121132669, LOC121132670, LOC121132671, LOC121740636, LOC121740637, LOC121740638, LOC121740639, LOC121740640, LOC121740641, LOC121740642, LOC121740643, LOC121740644, LOC121740645, LOC121740646, 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, 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, LOC127903862, LOC128462396, LOC128462417, LOC643327, LY86, LY86-AS1, LYRM4, LYRM4-AS1, MAK, MCUR1, MIR3691, MIR4639, MIR4645, MIR5683, MIR5689, MIR5689HG, MIR6720, MIR7853, MYLIP, MYLK4, NEDD9, NHLRC1, NOL7, NQO2, NQO2-AS1, NRN1, NUP153, NUP153-AS1, OFCC1, PAK1IP1, PHACTR1, PPP1R3G, PRPF4B, PSMG4, PXDC1, RANBP9, RBM24, RIOK1, RIPK1, RNF182, RPP40, RREB1, SCARNA27, SERPINB1, SERPINB6, SERPINB9, SERPINB9-AS1, SIRT5, SLC22A23, SLC35B3, SMIM13, SNRNP48, SSR1, STMND1, SYCP2L, TBC1D7, TBC1D7-LOC100130357, TFAP2A, TFAP2A-AS1, TFAP2A-AS2, TMEM14B, TMEM14B-DT, TMEM14C, TMEM170B, TPMT, TUBB2A, TUBB2B, TXNDC5, WRNIP1, ADTRP, ATXN1, ATXN1-AS1, BLOC1S5, BLOC1S5-TXNDC5, BMP6, BPHL, C6orf201, C6orf52, CAGE1, CAP2, CD83, CDYL, CDYL-AS1, DEK, DSP, DSP-AS1, DTNBP1, DUSP22, ECI2, ECI2-DT, EDN1, EEF1E1, EEF1E1-BLOC1S5, ELOVL2, ELOVL2-AS1, ERVFRD-1, EXOC2, F13A1, FAM217A, FAM50B, FAM8A1, FARS2, FARS2-AS1, FOXC1, FOXCUT, FOXF2, FOXF2-DT, FOXQ1, GCM2, GCNT2, GFOD1, GFOD1-AS1, GMDS, GMDS-DT, GMPR, HIVEP1, HULC, HUS1B, IRF4, JARID2, JARID2-AS1, KDM1B, KIF13A, KU-MEL-3, LINC00266-3, LINC00518, LINC01011, LINC01108, LINC01394, LINC01600, LINC01622, LINC02521, LINC02522, LINC02525, LINC02530, LINC02533, LINC02543, LINC03066, LOC100130357, LOC100422781, LOC100506207, LOC101927691, LOC101927759, LOC101927950, LOC101928191, LOC101928253, LOC101928491, LOC102724096, LOC106794091, LOC106799837, LOC108281148, LOC108663993, LOC110121052, LOC110121091, LOC110121246, LOC110121247, LOC110121274, LOC111365167, LOC111429610, LOC111429615, LOC111556163, LOC111591500, LOC111721709, LOC113121298, LOC113146407, LOC113146411, LOC113146412, LOC113146424, LOC113146425, LOC113174970, LOC113174974, LOC113174976, LOC113174977, LOC113174978
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh37:
Chr6:155807-17058645
GRCh38:
Chr6:155807-17058414
ADTRP, ATXN1, ATXN1-AS1, BLOC1S5, BLOC1S5-TXNDC5, BMP6, BPHL, C6orf201, C6orf52, CAGE1, CD83, CDYL, CDYL-AS1, DSP, DSP-AS1, DTNBP1, DUSP22, ECI2, ECI2-DT, EDN1, EEF1E1, EEF1E1-BLOC1S5, ELOVL2, ELOVL2-AS1, ERVFRD-1, EXOC2, F13A1, FAM217A, FAM50B, FARS2, FARS2-AS1, FOXC1, FOXCUT, FOXF2, FOXF2-DT, FOXQ1, GCM2, GCNT2, GFOD1, GFOD1-AS1, GMDS, GMDS-DT, GMPR, HIVEP1, HULC, HUS1B, IRF4, JARID2, JARID2-AS1, KU-MEL-3, LINC00518, LINC01011, LINC01108, LINC01394, LINC01600, LINC01622, LINC02521, LINC02522, LINC02525, LINC02530, LINC02533, LINC02543, LINC03066, LOC100130357, LOC100422781, LOC100506207, LOC101927691, LOC101927759, LOC101927950, LOC101928191, LOC101928253, LOC102724096, LOC106794091, LOC106799837, LOC108281148, LOC108663993, LOC110121052, LOC110121091, LOC110121246, LOC110121247, LOC110121274, LOC111429610, LOC111429615, LOC111556163, LOC111591500, LOC111721709, LOC113121298, LOC113146407, LOC113146411, LOC113146412, LOC113146424, LOC113146425, LOC113174970, LOC113174976, LOC113174977, LOC113174978, LOC113174985, LOC113174986, LOC113174998, LOC113174999, LOC113175008, LOC113175009, LOC113175013, LOC113175014, LOC113175015, LOC113175016, LOC114827828, LOC116158537, LOC116158538, LOC116158539, LOC116158540, LOC116158541, LOC116158542, LOC116158543, LOC116158544, LOC116158545, LOC116158546, LOC116158547, LOC121099719, LOC121099720, LOC121099721, LOC121099722, LOC121099724, LOC121106426, LOC121113497, LOC121113498, LOC121113499, LOC121132669, LOC121132670, LOC121740636, LOC121740637, LOC121740638, LOC121740639, LOC121740640, LOC121740641, LOC121740642, LOC121740643, LOC121740644, LOC121740645, 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, 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, LOC127903862, LOC128462396, LOC128462417, LOC643327, LY86, LY86-AS1, LYRM4, LYRM4-AS1, MAK, MCUR1, MIR3691, MIR4639, MIR4645, MIR5683, MIR5689, MIR5689HG, MIR6720, MIR7853, MYLIP, MYLK4, NEDD9, NOL7, NQO2, NQO2-AS1, NRN1, OFCC1, PAK1IP1, PHACTR1, PPP1R3G, PRPF4B, PSMG4, PXDC1, RANBP9, RIOK1, RIPK1, RNF182, RPP40, RREB1, SCARNA27, SERPINB1, SERPINB6, SERPINB9, SERPINB9-AS1, SIRT5, SLC22A23, SLC35B3, SMIM13, SNRNP48, SSR1, SYCP2L, TBC1D7, TBC1D7-LOC100130357, TFAP2A, TFAP2A-AS1, TFAP2A-AS2, TMEM14B, TMEM14B-DT, TMEM14C, TMEM170B, TUBB2A, TUBB2B, TXNDC5, WRNIP1
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
3.
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 casesPathogenic
(Jul 1, 2013)
no assertion criteria provided
4.
GRCh37:
Chr6:2862874-16698019
GRCh38:
Chr6:2862640-16697788
ADTRP, ATXN1, BLOC1S5, BLOC1S5-TXNDC5, BMP6, BPHL, C6orf201, C6orf52, CAGE1, CD83, CDYL, CDYL-AS1, DSP, DSP-AS1, DTNBP1, ECI2, ECI2-DT, EDN1, EEF1E1, EEF1E1-BLOC1S5, ELOVL2, ELOVL2-AS1, ERVFRD-1, F13A1, FAM217A, FAM50B, FARS2, FARS2-AS1, GCM2, GCNT2, GFOD1, GFOD1-AS1, GMPR, HIVEP1, HULC, JARID2, JARID2-AS1, KU-MEL-3, LINC00518, LINC01011, LINC01108, LINC02522, LINC02525, LINC02530, LINC02533, LINC02543, LOC100130357, LOC100422781, LOC100506207, LOC101927759, LOC101927950, LOC101928191, LOC101928253, LOC102724096, LOC106799837, LOC108281148, LOC108663993, LOC110121052, LOC110121091, LOC110121246, LOC110121247, LOC110121274, LOC111429615, LOC111556163, LOC111591500, LOC111721709, LOC113121298, LOC113146407, LOC113146411, LOC113146412, LOC113146424, LOC113146425, LOC113174985, LOC113174986, LOC113174998, LOC113174999, LOC113175008, LOC113175009, LOC113175013, LOC113175014, LOC113175015, LOC113175016, LOC114827828, LOC116158537, LOC116158538, LOC116158539, LOC116158540, LOC116158541, LOC116158542, LOC116158543, LOC116158544, LOC116158545, LOC116158546, LOC116158547, LOC121099720, LOC121099721, LOC121099722, LOC121099724, LOC121106426, LOC121113497, LOC121113498, LOC121113499, LOC121132669, LOC121740636, LOC121740637, LOC121740638, LOC121740639, LOC121740640, LOC121740641, LOC121740642, LOC121740643, LOC121740644, LOC121740645, 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, 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, LOC127903862, LOC128462396, LOC128462417, LOC643327, LY86, LY86-AS1, LYRM4, LYRM4-AS1, MAK, MCUR1, MIR3691, MIR4639, MIR5683, MIR5689, MIR5689HG, MIR7853, MYLIP, NEDD9, NOL7, NQO2, NQO2-AS1, NRN1, OFCC1, PAK1IP1, PHACTR1, PPP1R3G, PRPF4B, PSMG4, PXDC1, RANBP9, RIOK1, RIPK1, RNF182, RPP40, RREB1, SCARNA27, SERPINB6, SERPINB9, SERPINB9-AS1, SIRT5, SLC22A23, SLC35B3, SMIM13, SNRNP48, SSR1, SYCP2L, TBC1D7, TBC1D7-LOC100130357, TFAP2A, TFAP2A-AS1, TFAP2A-AS2, TMEM14B, TMEM14B-DT, TMEM14C, TMEM170B, TUBB2A, TUBB2B, TXNDC5
See casesPathogenic
(Jun 30, 2010)
no assertion criteria provided
5.
GRCh37:
Chr6:3224544-30624967
GRCh38:
Chr6:3224310-30657190
LOC116183055, LOC116183056, LOC121099720, LOC121099721, LOC121099722, LOC121099724, LOC121106426, LOC121113497, LOC121113498, LOC121113499, LOC121132669, LOC121132670, LOC121132671, LOC121132672, LOC121132673, LOC121132674, LOC121132675, LOC121740636, LOC121740637, LOC121740638, LOC121740639, LOC121740640, LOC121740641, LOC121740642, LOC121740643, LOC121740644, LOC121740645, LOC121740646, LOC121740647, 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, LOC126088086, LOC126088087, LOC126088088, 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, LOC128462396, LOC126859642, LOC126859643, LOC126859644, LOC127903862, LOC128462417, LOC128772275, LOC128772276, LOC128772277, LOC128781586, LOC285819, MAK, LOC554223, LOC643327, LY86, LY86-AS1, LYRM4, LYRM4-AS1, MAS1L, MBOAT1, MCUR1, MIR3143, MIR3691, MIR4639, MIR548A1, MIR548A1HG, MIR5683, MIR5689, MIR5689HG, MIR7853, MIR877, MOG, MRPS18B, MRS2, MYLIP, NBAT1, NEDD9, NHLRC1, NKAPL, NOL7, NRN1, NRSN1, NUP153, NUP153-AS1, OFCC1, OR10C1, OR11A1, OR12D1, OR12D2, OR12D3, OR14J1, OR1F12, OR2B2, OR2B3, OR2B6, OR2B8P, OR2H1, OR2H2, OR2I1P, OR2J1, OR2J2, OR2J3, OR2W1, OR2W1-AS1, OR5V1, PAK1IP1, PGBD1, PHACTR1, POLR1H, POM121L2, PPP1R10, RIOK1, PPP1R11, PPP1R3G, PRL, PRPF4B, RIPOR2, PRR3, PRSS16, PSMG4, PXDC1, RANBP9, RBM24, RNF144B, RNF182, RNF39, RPP21, RPP40, RREB1, SCAND3, SCARNA27, SCGN, SIRT5, SLC17A1, SLC17A2, SLC17A3, SLC17A4, SLC22A23, SLC35B3, SMIM13, SNORD32B, SNRNP48, SOX4, SSR1, STMND1, SYCP2L, TBC1D7, TBC1D7-LOC100130357, TDP2, TFAP2A, TFAP2A-AS1, TFAP2A-AS2, TMEM14B, TMEM14B-DT, TMEM14C, TMEM170B, 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, 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, TUBB2B, TXNDC5, UBD, ZFP57, ZKSCAN3, ZKSCAN4, ZKSCAN8, ZNF165, ZNF184, ZNF311, ZNF322, ZNF391, ZSCAN12, ZSCAN16, ZSCAN16-AS1, ZSCAN23, ZSCAN26, ZSCAN31, ZSCAN9, ABCF1, ABT1, ACOT13, ADTRP, ALDH5A1, ARMH2, BTN1A1, ATAT1, ATXN1, ATXN1-AS1, BLOC1S5, BLOC1S5-TXNDC5, BMP6, BTN2A1, BTN2A2, BTN3A1, BTN3A2, BTN3A3, CAP2, C6orf136, C6orf201, C6orf52, C6orf62, CAGE1, CARMIL1, CASC15, CD83, CDKAL1, CDYL, CDYL-AS1, DCDC2, DEK, DHX16, DSP, DSP-AS1, DTNBP1, E2F3, E2F3-IT1, ECI2, ECI2-DT, EDN1, EEF1E1, EEF1E1-BLOC1S5, ELOVL2, ELOVL2-AS1, ERVFRD-1, ERVK9-12, F13A1, FAM217A, FAM50B, FAM8A1, FARS2, FARS2-AS1, GABBR1, GCM2, GCNT2, GFOD1, GFOD1-AS1, GMNN, GMPR, H1-2, GNL1, GPLD1, GPX5, GPX6, H1-1, 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, HCG18, HCG4, HCG4B, HFE-AS1, HCG9, HCP5B, HDGFL1, HFE, HIVEP1, HLA-A, HLA-E, HMGN4, HLA-F, HLA-F-AS1, HLA-G, HULC, ID4, JARID2, JARID2-AS1, KAAG1, KDM1B, KIAA0319, KIF13A, KU-MEL-3, LARRPM, LINC00240, LINC00518, LINC00533, LINC00581, LINC01012, LINC01015, LINC01108, LINC01556, LINC01623, LINC02522, LINC02530, LINC02533, LINC02543, LINC03005, LINC02569, LINC02828, LINC02829, LINC03003, LNC-LBCS, LOC100130357, LOC100131289, LOC100422781, LOC100506207, LOC101927950, LOC101928191, LOC101928253, LOC101928491, LOC101928519, LOC101928663, LOC102724096, LOC105374960, LOC105374988, LOC106799837, LOC106799842, LOC107403164, LOC108281120, LOC108663993, LOC110120976, LOC110121016, LOC110121052, LOC110121065, LOC110121068, LOC110121074, LOC110121091, LOC110121134, LOC110121246, LOC110121247, LOC110121274, LOC111365167, LOC111429610, LOC111429615, LOC111556163, LOC111591500, LOC111721709, LOC113121298, LOC113146407, LOC113146411, LOC113146412, LOC113146424, LOC113146425, LOC113174970, LOC113174974, LOC113174975, LOC113174981, LOC113174982, LOC113174983, LOC113174984, LOC113174986, LOC113174987, LOC113174998, LOC113174999, LOC113175008, LOC113175009, LOC113175013, LOC113175014, LOC113175015, LOC113175016, LOC114827828, 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
See casesPathogenic
(Jun 11, 2012)
no assertion criteria provided
6.
GRCh37:
Chr6:14730787-17554322
GRCh38:
Chr6:14730556-17554091
See casesLikely pathogenic
(Mar 21, 2011)
no assertion criteria provided
7.
GRCh37:
Chr6:14958991-18581139
GRCh38:
Chr6:14958760-18580908
See casesUncertain significance
(Dec 10, 2012)
no assertion criteria provided
8.
GRCh37:
Chr6:16306571
GRCh38:
Chr6:16306340
ATXN1V813IInborn genetic diseasesUncertain significance
(Aug 11, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr6:16306588
GRCh38:
Chr6:16306357
ATXN1I807TInborn genetic diseasesUncertain significance
(Oct 4, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr6:16306591
GRCh38:
Chr6:16306360
ATXN1C806FInborn genetic diseasesUncertain significance
(Dec 27, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr6:16306669
GRCh38:
Chr6:16306438
ATXN1R780HInborn genetic diseasesUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr6:16306751
GRCh38:
Chr6:16306520
ATXN1P753Snot specifiedLikely benignno assertion criteria provided
13.
GRCh37:
Chr6:16306838
GRCh38:
Chr6:16306607
ATXN1A724TInborn genetic diseasesUncertain significance
(Mar 16, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr6:16306858
GRCh38:
Chr6:16306627
ATXN1A717VSpinocerebellar ataxia type 1, not specifiedLikely benign
(Oct 30, 2017)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr6:16306865
GRCh38:
Chr6:16306634
ATXN1G715SInborn genetic diseases, not providedConflicting interpretations of pathogenicity
(Mar 29, 2022)
criteria provided, conflicting interpretations
16.
GRCh37:
Chr6:16306932
GRCh38:
Chr6:16306701
ATXN1N692fsnot providedUncertain significance
(Apr 18, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr6:16326611
GRCh38:
Chr6:16326380
ATXN1not providedBenign
(Jun 25, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr6:16326738
GRCh38:
Chr6:16326507
ATXN1A602SSpinocerebellar ataxia type 1Uncertain significance
(Aug 13, 2019)
criteria provided, single submitter
19.
GRCh37:
Chr6:16326848
GRCh38:
Chr6:16326617
ATXN1A565VInborn genetic diseasesUncertain significance
(Nov 8, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr6:16326864
GRCh38:
Chr6:16326633
ATXN1V560Mnot providedUncertain significance
(Jul 1, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr6:16326891
GRCh38:
Chr6:16326660
ATXN1Q551*not providedUncertain significance
(Aug 7, 2017)
criteria provided, single submitter
22.
GRCh37:
Chr6:16326967
GRCh38:
Chr6:16326736
ATXN1not providedLikely benign
(Mar 1, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr6:16326979
GRCh38:
Chr6:16326748
ATXN1Tip-toe gaitUncertain significance
(Dec 8, 2020)
criteria provided, single submitter
24.
GRCh37:
Chr6:16327330
GRCh38:
Chr6:16327099
ATXN1not specifiedLikely benignno assertion criteria provided
25.
GRCh37:
Chr6:16327368
GRCh38:
Chr6:16327137
ATXN1A392TInborn genetic diseasesUncertain significance
(Jul 9, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr6:16327415
GRCh38:
Chr6:16327184
ATXN1S376LInborn genetic diseasesUncertain significance
(Jul 28, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr6:16327430
GRCh38:
Chr6:16327199
ATXN1S371NInborn genetic diseasesUncertain significance
(Jun 9, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr6:16327469
GRCh38:
Chr6:16327238
ATXN1S358CInborn genetic diseasesUncertain significance
(Aug 8, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr6:16327474
GRCh38:
Chr6:16327243
ATXN1Y356*not providedUncertain significance
(Jan 7, 2020)
criteria provided, single submitter
30.
GRCh37:
Chr6:16327509
GRCh38:
Chr6:16327278
ATXN1G345RInborn genetic diseasesUncertain significance
(Jul 26, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr6:16327615
GRCh38:
Chr6:16327384
ATXN1not specifiedLikely benignno assertion criteria provided
32.
GRCh37:
Chr6:16327615
GRCh38:
Chr6:16327384
ATXN1not specifiedLikely benignno assertion criteria provided
33.
GRCh37:
Chr6:16327689
GRCh38:
Chr6:16327458
ATXN1P285AInborn genetic diseasesUncertain significance
(Jul 14, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr6:16327770
GRCh38:
Chr6:16327539
ATXN1G258SInborn genetic diseasesUncertain significance
(Dec 7, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr6:16327770
GRCh38:
Chr6:16327539
ATXN1G258CTip-toe gaitLikely pathogenicno assertion criteria provided
36.
GRCh37:
Chr6:16327827
GRCh38:
Chr6:16327596
ATXN1P239TInborn genetic diseasesUncertain significance
(Nov 30, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr6:16327864-16327865
GRCh38:
Chr6:16327633-16327634
ATXN1, LOC108663993Hepatocellular carcinomaPathogenic
(Jun 15, 2021)
no assertion criteria provided
38.
GRCh37:
Chr6:16327864-16327865
GRCh38:
Chr6:16327633-16327634
ATXN1, LOC108663993Hepatocellular carcinomaPathogenic
(Jun 15, 2021)
no assertion criteria provided
39.
GRCh37:
Chr6:16327864-16327865
GRCh38:
Chr6:16327633-16327634
ATXN1, LOC108663993not provided, not specified, Hepatocellular carcinoma
Conflicting interpretations of pathogenicity
(Jun 15, 2021)
no assertion criteria provided
40.
GRCh37:
Chr6:16327864-16327865
GRCh38:
Chr6:16327633-16327634
ATXN1, LOC108663993Spinocerebellar ataxia type 1Benign
(Jul 19, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr6:16327865-16327867
GRCh38:
Chr6:16327634-16327636
ATXN1, LOC108663993Q225delHepatocellular carcinomaPathogenic
(Jun 15, 2021)
no assertion criteria provided
42.
GRCh37:
Chr6:16327865-16327870
GRCh38:
Chr6:16327634-16327639
ATXN1, LOC108663993Hepatocellular carcinoma, not providedConflicting interpretations of pathogenicity
(Jun 15, 2021)
no assertion criteria provided
43.
GRCh37:
Chr6:16327867
GRCh38:
Chr6:16327636
ATXN1, LOC108663993Q225Hnot specifiedLikely benignno assertion criteria provided
44.
GRCh37:
Chr6:16327897
GRCh38:
Chr6:16327666
ATXN1, LOC108663993Q215Hnot specifiedLikely benignno assertion criteria provided
45.
GRCh37:
Chr6:16327903
GRCh38:
Chr6:16327672
ATXN1, LOC108663993Q213Hnot specifiedLikely benignno assertion criteria provided
46.
GRCh37:
Chr6:16327906
GRCh38:
Chr6:16327675
ATXN1, LOC108663993Q212Hnot specifiedUncertain significance
(Apr 4, 2014)
criteria provided, single submitter
47.
GRCh37:
Chr6:16327907-16327909
GRCh38:
Chr6:16327676-16327678
ATXN1, LOC108663993H211delnot specifiedUncertain significance
(Jul 15, 2014)
criteria provided, single submitter
48.
GRCh37:
Chr6:16327909
GRCh38:
Chr6:16327678
ATXN1, LOC108663993H211Qnot specifiedLikely benignno assertion criteria provided
49.
GRCh37:
Chr6:16327912
GRCh38:
Chr6:16327681
ATXN1, LOC108663993Q210Hnot specifiedUncertain significance
(Apr 4, 2014)
criteria provided, single submitter
50.
GRCh37:
Chr6:16327913-16327915
GRCh38:
Chr6:16327682-16327684
ATXN1, LOC108663993H209delHepatocellular carcinomaPathogenic
(Jun 15, 2021)
no assertion criteria provided
51.
GRCh37:
Chr6:16327915-16327916
GRCh38:
Chr6:16327684-16327685
ATXN1, LOC108663993Hepatocellular carcinomaPathogenic
(Jun 15, 2021)
no assertion criteria provided
52.
GRCh37:
Chr6:16327915
GRCh38:
Chr6:16327684
ATXN1, LOC108663993H209Qnot providedUncertain significanceno assertion criteria provided
53.
GRCh37:
Chr6:16327915-16327916
GRCh38:
Chr6:16327684-16327685
LOC108663993, ATXN1not specified, Spinocerebellar ataxia type 1Benign/Likely benign
(May 17, 2017)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr6:16327916-16327918
GRCh38:
Chr6:16327685-16327687
ATXN1, LOC108663993Q208delnot specifiedUncertain significance
(Jun 27, 2014)
criteria provided, single submitter
55.
GRCh37:
Chr6:16327918
GRCh38:
Chr6:16327687
LOC108663993, ATXN1Q208Hnot specifiedUncertain significance
(Jun 10, 2014)
criteria provided, single submitter
56.
GRCh37:
Chr6:16327918-16327953
GRCh38:
Chr6:16327687-16327722
ATXN1, LOC108663993Spinocerebellar ataxia type 1Pathogenic
(Mar 1, 2002)
no assertion criteria provided
57.
GRCh37:
Chr6:16327921
GRCh38:
Chr6:16327690
LOC108663993, ATXN1Q207HSpinocerebellar ataxia type 1, not specifiedConflicting interpretations of pathogenicity
(Jan 1, 2019)
criteria provided, conflicting interpretations
58.
GRCh37:
Chr6:16327924
GRCh38:
Chr6:16327693
ATXN1, LOC108663993Q206HInborn genetic diseasesUncertain significance
(Nov 15, 2021)
criteria provided, single submitter
59.
GRCh37:
Chr6:16327930
GRCh38:
Chr6:16327699
ATXN1, LOC108663993Q204HInborn genetic diseasesUncertain significance
(Oct 5, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr6:16327933
GRCh38:
Chr6:16327702
ATXN1, LOC108663993Q203HSpinocerebellar ataxia type 1, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Dec 6, 2021)
criteria provided, conflicting interpretations
61.
GRCh37:
Chr6:16327970
GRCh38:
Chr6:16327739
ATXN1P191LInborn genetic diseasesUncertain significance
(Jan 5, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr6:16327986
GRCh38:
Chr6:16327755
ATXN1Q176L, S186Cnot providedLikely benignno assertion criteria provided
63.
GRCh37:
Chr6:16328030
GRCh38:
Chr6:16327799
ATXN1R171HInborn genetic diseasesUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr6:16328068
GRCh38:
Chr6:16327837
ATXN1S149Gnot providedBenign
(Feb 11, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr6:16328228
GRCh38:
Chr6:16327997
ATXN1A105VInborn genetic diseasesLikely benign
(Aug 17, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr6:16328268
GRCh38:
Chr6:16328037
ATXN1A92T, R82HInborn genetic diseasesUncertain significance
(Nov 12, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr6:16328447
GRCh38:
Chr6:16328216
ATXN1T32S, Y22*not providedLikely benignno assertion criteria provided
68.
GRCh37:
Chr6:16367939-16367983
GRCh38:
Chr6:16367708-16367752
ATXN1SchizophreniaUncertain significance
(Nov 11, 2022)
no assertion criteria provided
69.
GRCh37:
Chr6:16448152-16825567
GRCh38:
Chr6:16447921-16825336
ATXN1, ATXN1-AS1, LOC111429610, LOC113174970, LOC121132670, LOC126859605See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
70.
GRCh37:
Chr6:820000-21700000
See casesPathogenic
(May 24, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr6:12005630-22849647
not providedPathogenic
(Nov 9, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr6:16445708-16860111
ATXN1not providedUncertain significance
(Oct 26, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr6:16568082-17047673
ATXN1not specifiedUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr6:16348584-16559316
ATXN1not specifiedLikely pathogenic
(Mar 1, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr6:8269414-17402660
not specifiedLikely pathogenic
(Mar 1, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr6:16441703-16871298
ATXN1not providedUncertain significance
(Jul 13, 2020)
no assertion criteria provided
77.
GRCh37:
Chr6:16572172-17047673
ATXN1not providedUncertain significance
(Jun 29, 2020)
no assertion criteria provided
78.
GRCh37:
Chr6:16445707-16860111
ATXN1not providedUncertain significance
(Dec 28, 2018)
no assertion criteria provided
79.
GRCh37:
Chr6:16380586-16437689
ATXN1not providedLikely benign
(Dec 31, 2018)
no assertion criteria provided
80.
GRCh37:
Chr6:13248587-18083552
not providedUncertain significance
(Apr 23, 2018)
no assertion criteria provided
81.
GRCh37:
Chr6:14715955-17223929
ATXN1, DTNBP1, GMPR, JARID2, MYLIP, STMND1not providedUncertain significance
(Mar 6, 2018)
no assertion criteria provided
82.
GRCh37:
Chr6:13910125-22000204
not providedPathogenic
(Feb 28, 2018)
no assertion criteria provided
83.
GRCh37:
Chr6:16441242-16871357
ATXN1not providedUncertain significance
(Aug 28, 2018)
no assertion criteria provided
84.
GRCh37:
Chr6:156974-23221621
not providedPathogenic
(Sep 24, 2018)
no assertion criteria provided
85.
GRCh37:
Chr6:16586453-16701334
ATXN1not providedUncertain significance
(Nov 17, 2017)
no assertion criteria provided
86.
GRCh37:
Chr6:16710750-16771465
ATXN1not providedBenign
(May 8, 2012)
no assertion criteria provided
87.
GRCh37:
Chr6:16634454-16773382
ATXN1not providedBenign
(Nov 8, 2012)
no assertion criteria provided
88.
GRCh37:
Chr6:16579372-16579733
ATXN1not providedBenign
(Nov 29, 2011)
no assertion criteria provided
89.
GRCh37:
Chr6:16391928-16405720
ATXN1not providedBenign
(Oct 21, 2014)
no assertion criteria provided
90.
GRCh37:
Chr6:16391575-16400090
ATXN1not providedBenign
(Aug 2, 2012)
no assertion criteria provided
91.
GRCh37:
Chr6:16391575-16399841
ATXN1not providedBenign
(Dec 6, 2011)
no assertion criteria provided
92.
GRCh37:
Chr6:16391575-16399680
ATXN1not providedBenign
(Jul 10, 2012)
no assertion criteria provided
93.
GRCh37:
Chr6:16391575-16399407
ATXN1not providedBenign
(Jun 27, 2012)
no assertion criteria provided
94.
GRCh37:
Chr6:16390939-16400090
ATXN1not providedBenign
(Dec 30, 2014)
no assertion criteria provided
95.
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 providedPathogenic
(Oct 31, 2014)
no assertion criteria provided
96.
GRCh37:
Chr6:108666-170980171
LY6G5C, LY6G6C, LY6G6D, LY6G6F, LY86, LYRM2, LYRM4, MAD2L1BP, MAK, MAN1A1, MANEA, 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, MICAL1, MICB, MIR133B, MIR206, MMS22L, MIR219A1, MIR30A, MIR877, MLIP, MLN, MMUT, MOCS1, MOG, MOXD1, MPC1, MPIG6B, MRAP2, MRPL14, MRPL18, MRPL2, MRPS10, MRPS18A, MRPS18B, MRS2, MTRES1, MSH5, MTCH1, MTFR2, MTHFD1L, MTO1, 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, OR2H2, PAQR8, OR2J2, OR2J3, OR2W1, OR5V1, ORC3, OSTM1, PACRG, PACSIN1, PAK1IP1, 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, POLR1H, POM121L2, POPDC3, POU3F2, POU5F1, PPARD, PPIL1, PPIL4, PPIL6, PPP1R10, PRICKLE4, PPP1R11, PPP1R14C, PPP1R18, PPP1R3G, PPP2R5D, PPT2, PRDM1, PRDM13, PREP, PRKN, PRL, PRPF4B, PRPH2, PRR18, PRR3, PRRC2A, PRRT1, PRSS16, PRSS35, PSMB1, PSMB8, PSMB9, PSMG4, PSORS1C1, PSORS1C2, PTCHD4, PTCRA, PTK7, PTP4A1, 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, RPL10A, RNF5, RNF8, RNGTT, ROS1, RPF2, RPL7L1, RPP21, RPP40, RPS10, RPS12, RPS18, RPS6KA2, RRAGD, RREB1, RRP36, RSPH3, RSPH4A, RSPH9, RSPO3, RTN4IP1, RUNX2, RWDD1, RWDD2A, RXRB, SAMD3, SAMD5, SAPCD1, SASH1, SAYSD1, 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, TAP2, TAPBP, TBC1D22B, 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, TRS-AGA2-3, TRIM15, TRIM26, TRIM27, TRIM31, TRIM38, TRIM39, TRS-TGA2-1, TRIM39-RPP21, TRIM40, TRMT11, TRR-TCG4-1, 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, ZFP57, ZKSCAN3, ZKSCAN4, ZKSCAN8, ZNF165, ZNF184, 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, AKIRIN2, AGER, AGPAT1, AGPAT4, AHI1, AIF1, AIG1, AIRN, AK9, AKAP12, AKAP7, ALDH5A1, ALDH8A1, AMD1, ANKRD6, ANKRD66, ANKS1A, APOBEC2, APOM, ARFGEF3, ARG1, ARHGAP18, ARID1B, ARMC12, ARMC2, ARMT1, ASCC3, ASF1A, ATAT1, ATF6B, ATG5, ATP6V1G2, ATXN1, B3GALT4, B3GAT2, BACH2, BAG2, BAG6, BAK1, BCKDHB, BCLAF1, BEND3, BEND6, BICRAL, BLOC1S5, BLTP3A, BMP5, BMP6, BNIP5, BPHL, BRD2, BRPF3, BTBD9, BTN1A1, BTN2A1, BTN2A2, 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, CYP21A2, CYP39A1, DAAM2, DACT2, DAXX, DCBLD1, 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, EHMT2, ELOVL2, ELOVL4, ELOVL5, ENPP1, ENPP3, 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, FOXP4, FLOT1, FNDC1, FOXC1, FOXF2,