| - GRCh37:
- Chr6:106431-18360826
- GRCh38:
- Chr6:106431-18360595
| 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, LOC100507336, LOC101927691, LOC101927759, LOC101927888, LOC101927950, LOC101928004, LOC101928191, LOC101928253, LOC101928491, LOC102724096, LOC105374901, LOC105374928, LOC105374943, 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, 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 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr6:152634-14417234
- GRCh38:
- Chr6:152634-14417003
| ADTRP, BLOC1S5, BLOC1S5-TXNDC5, BMP6, BPHL, C6orf201, C6orf52, CAGE1, CD83, CDYL, CDYL-AS1, DSP, DSP-AS1, 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, HIVEP1, HULC, HUS1B, IRF4, KU-MEL-3, LINC00518, LINC01011, LINC01108, LINC01394, LINC01600, LINC01622, LINC02521, LINC02522, LINC02525, LINC02530, LINC02533, LINC03066, LOC100130357, LOC100422781, LOC100506207, LOC100507336, LOC101927691, LOC101927759, LOC101927888, LOC101927950, LOC101928004, LOC101928191, LOC101928253, LOC102724096, LOC105374901, LOC105374928, LOC105374943, LOC106794091, LOC108281148, LOC110121052, LOC110121091, LOC110121246, LOC110121247, LOC110121274, LOC111429615, LOC111556163, LOC111591500, LOC111721709, LOC113121298, LOC113146407, LOC113146411, LOC113146412, LOC113174976, LOC113174977, LOC113174978, LOC113174985, LOC113174986, LOC113174998, LOC113174999, LOC113175008, LOC113175009, LOC113175013, LOC113175014, LOC113175015, LOC113175016, LOC114827828, LOC116158537, LOC116158538, LOC116158539, LOC116158540, LOC116158541, LOC116158542, LOC116158543, LOC116158544, LOC121099719, LOC121099720, LOC121099721, LOC121099722, LOC121099724, LOC121106426, LOC121113497, LOC121113498, LOC121740636, LOC121740637, LOC121740638, LOC121740639, LOC121740640, LOC121740641, LOC121740642, 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, 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, LOC128462396, LOC128462417, LOC643327, LY86, LY86-AS1, LYRM4, LYRM4-AS1, MAK, MCUR1, MIR3691, MIR4645, MIR5683, MIR5689, MIR5689HG, MIR6720, MIR7853, 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 cases | Pathogenic (Nov 27, 2012) | no assertion criteria provided |
| - 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, LOC100507336, LOC101927691, LOC101927759, LOC101927888, LOC101927950, LOC101928004, LOC101928191, LOC101928253, LOC102724096, LOC105374901, LOC105374928, LOC105374943, 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 cases | Pathogenic (Apr 30, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr6:156974-13856156
- GRCh38:
- Chr6:156974-13855925
| ADTRP, BLOC1S5, BLOC1S5-TXNDC5, BMP6, BPHL, C6orf201, C6orf52, CAGE1, CDYL, CDYL-AS1, DSP, DSP-AS1, 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, HIVEP1, HULC, HUS1B, IRF4, KU-MEL-3, LINC00518, LINC01011, LINC01394, LINC01600, LINC01622, LINC02521, LINC02522, LINC02525, LINC02530, LINC02533, LINC03066, LOC100130357, LOC100422781, LOC100506207, LOC100507336, LOC101927691, LOC101927759, LOC101927888, LOC101927950, LOC101928004, LOC101928191, LOC101928253, LOC102724096, LOC105374901, LOC105374928, LOC106794091, LOC108281148, LOC110121052, LOC110121091, LOC110121246, LOC110121247, LOC110121274, LOC111429615, LOC111591500, LOC111721709, LOC113121298, LOC113146407, LOC113146411, LOC113146412, LOC113174976, LOC113174977, LOC113174978, LOC113174985, LOC113174986, LOC113174998, LOC113174999, LOC113175008, LOC113175009, LOC113175013, LOC113175014, LOC113175015, LOC113175016, LOC114827828, LOC116158537, LOC116158538, LOC116158539, LOC121099719, LOC121099720, LOC121099721, LOC121099722, LOC121099724, LOC121106426, LOC121113497, LOC121113498, LOC121740636, LOC121740637, LOC121740638, LOC121740639, LOC121740640, LOC121740641, LOC121740642, 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, 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, LOC643327, LY86, LY86-AS1, LYRM4, LYRM4-AS1, MAK, MCUR1, MIR3691, MIR4645, MIR5683, MIR5689, MIR5689HG, MIR6720, MIR7853, MYLK4, NEDD9, NOL7, NQO2, NQO2-AS1, NRN1, OFCC1, PAK1IP1, PHACTR1, PPP1R3G, PRPF4B, PSMG4, PXDC1, RANBP9, RIOK1, RIPK1, 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 cases | Pathogenic (Mar 18, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr6:156974-13081433
- GRCh38:
- Chr6:156974-13081201
| GCM2, GCNT2, GMDS, GMDS-DT, HIVEP1, HULC, HUS1B, IRF4, KU-MEL-3, LINC00518, LINC01011, LINC01394, LINC01600, LINC01622, LINC02521, LINC02522, LINC02525, LINC02530, LINC02533, LINC03066, LOC100422781, LOC100506207, LOC100507336, LOC101927691, LOC101927759, LOC101927888, LOC101927950, LOC101928004, LOC101928191, LOC101928253, LOC102724096, LOC105374901, LOC105374928, LOC106794091, LOC108281148, LOC110121052, LOC110121091, LOC110121246, LOC110121247, LOC110121274, LOC111429615, LOC111591500, LOC111721709, LOC113121298, LOC113146407, LOC113174976, LOC113174977, LOC113174978, LOC113174985, LOC113174986, LOC113174998, LOC113174999, LOC113175008, LOC113175009, LOC113175013, LOC113175014, LOC113175015, LOC113175016, LOC114827828, LOC116158537, LOC116158538, LOC116158539, LOC121099719, LOC121099720, LOC121099721, LOC121099722, LOC121099724, LOC121106426, LOC121113497, LOC121740636, LOC121740637, LOC121740638, LOC121740639, LOC121740640, LOC121740641, 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, 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, LOC643327, LY86, LY86-AS1, LYRM4, LYRM4-AS1, MAK, MIR3691, MIR4645, MIR5683, MIR5689, MIR5689HG, MIR6720, MIR7853, MYLK4, NEDD9, NQO2, NQO2-AS1, NRN1, OFCC1, PAK1IP1, PHACTR1, PPP1R3G, PRPF4B, PSMG4, PXDC1, RIOK1, RIPK1, RPP40, RREB1, SCARNA27, SERPINB1, SERPINB6, SERPINB9, SERPINB9-AS1, SLC22A23, SLC35B3, SMIM13, SNRNP48, SSR1, SYCP2L, TFAP2A, TFAP2A-AS1, TFAP2A-AS2, TMEM14B, TMEM14B-DT, TMEM14C, TMEM170B, TUBB2A, TUBB2B, TXNDC5, WRNIP1, ADTRP, BLOC1S5, BLOC1S5-TXNDC5, BMP6, BPHL, C6orf201, C6orf52, CAGE1, CDYL, CDYL-AS1, DSP, DSP-AS1, 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 | | See cases | Likely pathogenic (Dec 3, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr6:156974-46757028
- GRCh38:
- Chr6:156974-46789291
| 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, NBAT1, NCR2, MUC22, MUCL3, MYLIP, MYLK4, MYMX, 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, OR2B8P, OR14J1, OR1F12, OR2B2, OR2B3, OR2B6, 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, POU5F1, PPARD, PPIL1, PPP1R3G, PPP1R10, PPP1R11, PPP1R18, PPP2R5D, PPT2, PPT2-EGFL8, PRICKLE4, PRL, PRPF4B, PRPH2, PRR3, PRRC2A, PRRT1, PRSS16, PSMB8, PXDC1, PSMB8-AS1, PSMB9, PSMG4, PSORS1C1, PSORS1C2, PSORS1C3, PTCRA, PTK7, PXT1, RAB44, RANBP9, RBM24, RCAN2, RCAN2-DT, RGL2, RING1, RIOK1, RIPK1, RIPOR2, RNF144B, RNF182, RNF39, RNF5, RNF8, RPL10A, RPL7L1, RPP21, RPP40, RPS10, RPS10-NUDT3, RPS18, RREB1, RRP36, RSPH9, RUNX2, RUNX2-AS1, RXRB, SAPCD1, SAPCD1-AS1, SAYSD1, SCAND3, 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, SRF, SNORD117, SNORD32B, SNORD48, SNORD52, SNORD84, SNRNP48, SNRPC, SOX4, SPATS1, SPDEF, 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, ADTRP, ABCF1, ABHD16A, ABT1, ACOT13, AGER, AGPAT1, AIF1, ALDH5A1, ANKRD66, ANKS1A, APOBEC2, APOM, ARMC12, ARMH2, ATAT1, ATF6B, ATP6V1G2, BLTP3A, ATP6V1G2-DDX39B, ATXN1, ATXN1-AS1, B3GALT4, BMP6, BAG6, BAK1, BICRAL, BLOC1S5, BLOC1S5-TXNDC5, BNIP5, BPHL, BRD2, BRPF3, BRPF3-AS1, BTBD9, BTBD9-AS1, BTN1A1, BTN2A1, BTN2A2, BTN3A1, BTN3A2, BTN3A3, BTNL2, BYSL, C6orf132, C2, C2-AS1, C4A, C4B, 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, CIMIP3, CLIC1, CLIC5, CLPS, CLPSL1, CLPSL2, CMTR1, CNPY3, 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, EEF1E1, DXO, E2F3, E2F3-IT1, ECI2, ECI2-DT, EDN1, 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, FOXP4, FLOT1, FOXC1, FOXCUT, FOXF2, FOXF2-DT, FOXP4-AS1, FOXQ1, FRS3, GABBR1, GCM2, GCNT2, GFOD1, GFOD1-AS1, GLO1, GLP1R, GMDS, GMDS-DT, GMNN, GMPR, GNL1, GNMT, GPX6, GPANK1, GPLD1, GPSM3, GPX5, GRM4, GTF2H4, GTPBP2, GUCA1A, 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, HLA-DQB1-AS1, HCG17, HCG18, HCG20, HCG21, HCG22, HCG23, HCG24, HCG25, HCG26, HCG27, HLA-DRB5, HCG4, HCG4B, HCG9, HCP5, 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, HSP90AB1, HSPA1A, HSPA1B, HSPA1L, HULC, HUS1B, 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, LOC100507336, LOC100507547, LOC101926915, LOC101927691, LOC101927759, LOC101927888, LOC101927950, LOC101928004, LOC101928191, LOC101928253, LOC101928491, LOC101928519, LOC101928663, LOC101929309, LOC101929535, LOC101929555, LOC102724096, LOC102724749, LOC102724765, LOC105374901, LOC105374928, LOC105374943, LOC105374960, LOC105374988, LOC105374989, LOC105375022, LOC105375026, LOC105375050, LOC105375075, LOC105379699, LOC106780800, LOC106780803, LOC106780804, LOC106794091, LOC106799837, LOC106799842, LOC107063610, LOC107403164, LOC107648851, LOC107648856, LOC107648859, LOC107648863, LOC107648864, LOC107648866, LOC107986531, LOC107986596, LOC108004539, LOC108281120, LOC108281124, LOC108281148, LOC108663993, LOC108961161, LOC109611589, LOC109611593, LOC110120645, LOC110120976, LOC110120988, LOC110121016, LOC110121052, LOC110121065, LOC110121068, LOC110121074, LOC110121080, LOC110121091, LOC110121112, LOC110121134, LOC110121220 | | See cases | Pathogenic (Jul 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr6:156974-11551050
- GRCh38:
- Chr6:156974-11550817
| BLOC1S5, BLOC1S5-TXNDC5, BMP6, BPHL, C6orf201, C6orf52, CAGE1, CDYL, CDYL-AS1, DSP, DSP-AS1, DUSP22, ECI2, ECI2-DT, EEF1E1, EEF1E1-BLOC1S5, ELOVL2, ELOVL2-AS1, ERVFRD-1, EXOC2, F13A1, FAM217A, FAM50B, FARS2, FARS2-AS1, FOXC1, FOXCUT, FOXF2, FOXF2-DT, FOXQ1, GCM2, GCNT2, GMDS, GMDS-DT, HULC, HUS1B, IRF4, KU-MEL-3, LINC00518, LINC01011, LINC01394, LINC01600, LINC01622, LINC02521, LINC02522, LINC02525, LINC02533, LINC03066, LOC100422781, LOC100506207, LOC100507336, LOC101927691, LOC101927759, LOC101927888, LOC101927950, LOC101928004, LOC101928191, LOC102724096, LOC105374901, LOC105374928, LOC106794091, LOC108281148, LOC110121052, LOC110121091, LOC110121246, LOC110121247, LOC110121274, LOC111429615, LOC111591500, LOC111721709, LOC113121298, LOC113174976, LOC113174977, LOC113174978, LOC113174985, LOC113174986, LOC113174998, LOC113174999, LOC113175008, LOC113175009, LOC113175013, LOC113175014, LOC113175015, LOC113175016, LOC114827828, LOC116158537, LOC116158538, LOC116158539, LOC121099719, LOC121099720, LOC121099721, LOC121099722, LOC121099724, LOC121106426, LOC121740636, LOC121740637, LOC121740638, LOC121740639, LOC121740640, 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, 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, LOC643327, LY86, LY86-AS1, LYRM4, LYRM4-AS1, MAK, MIR3691, MIR4645, MIR5683, MIR5689, MIR5689HG, MIR6720, MIR7853, MYLK4, NEDD9, NQO2, NQO2-AS1, NRN1, OFCC1, PAK1IP1, PPP1R3G, PRPF4B, PSMG4, PXDC1, RIOK1, RIPK1, RPP40, RREB1, SCARNA27, SERPINB1, SERPINB6, SERPINB9, SERPINB9-AS1, SLC22A23, SLC35B3, SMIM13, SNRNP48, SSR1, SYCP2L, TFAP2A, TFAP2A-AS1, TFAP2A-AS2, TMEM14B, TMEM14B-DT, TMEM14C, TMEM170B, TUBB2A, TUBB2B, TXNDC5, WRNIP1 | | See cases | Likely pathogenic (Mar 18, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr6:163083-9525729
- GRCh38:
- Chr6:163083-9525496
| BLOC1S5, BLOC1S5-TXNDC5, BMP6, BPHL, C6orf201, CAGE1, CDYL, CDYL-AS1, DSP, DSP-AS1, DUSP22, ECI2, ECI2-DT, EEF1E1, EEF1E1-BLOC1S5, EXOC2, F13A1, FAM217A, FAM50B, FARS2, FARS2-AS1, FOXC1, FOXCUT, FOXF2, FOXF2-DT, FOXQ1, GMDS, GMDS-DT, HULC, HUS1B, IRF4, KU-MEL-3, LINC01011, LINC01394, LINC01600, LINC01622, LINC02521, LINC02525, LINC02533, LINC03066, LOC100422781, LOC100506207, LOC100507336, LOC101927691, LOC101927759, LOC101927888, LOC101927950, LOC101928004, LOC102724096, LOC105374901, LOC106794091, LOC108281148, LOC110121052, LOC110121091, LOC110121246, LOC110121247, LOC110121274, LOC111429615, LOC111721709, LOC113174976, LOC113174977, LOC113174978, LOC113174985, LOC113174986, LOC113174998, LOC113174999, LOC113175008, LOC113175009, LOC113175013, LOC113175014, LOC113175015, LOC113175016, LOC114827828, LOC116158537, LOC116158538, LOC116158539, LOC121099719, LOC121099720, LOC121099721, LOC121099722, LOC121099724, LOC121106426, LOC121740636, LOC121740637, LOC123575642, LOC123575643, LOC123575644, LOC123575645, LOC123575646, LOC123575647, LOC123575648, LOC123575649, LOC123575650, LOC123575651, LOC123575652, LOC123575653, LOC123575654, LOC123575655, LOC123575656, LOC123575657, LOC123575658, LOC123575659, LOC123575660, LOC123575661, LOC123575662, LOC123575663, LOC123575664, 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, LOC643327, LY86, LY86-AS1, LYRM4, LYRM4-AS1, MIR3691, MIR4645, MIR5683, MIR6720, MIR7853, MYLK4, NQO2, NQO2-AS1, NRN1, PPP1R3G, PRPF4B, PSMG4, PXDC1, RIOK1, RIPK1, RPP40, RREB1, SCARNA27, SERPINB1, SERPINB6, SERPINB9, SERPINB9-AS1, SLC22A23, SLC35B3, SNRNP48, SSR1, TUBB2A, TUBB2B, TXNDC5, WRNIP1 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr6:164360-13340113
- GRCh38:
- Chr6:164360-13339881
| LOC126859586, LOC126859587, LOC126859588, LOC126859589, LOC126859590, LOC126859591, LOC126859592, LOC643327, LY86, LY86-AS1, LYRM4, LYRM4-AS1, MAK, MIR3691, MIR4645, MIR5683, MIR5689, MIR5689HG, MIR6720, MIR7853, MYLK4, NEDD9, NQO2, NQO2-AS1, NRN1, OFCC1, PAK1IP1, PHACTR1, PPP1R3G, PRPF4B, PSMG4, PXDC1, RIOK1, RIPK1, RPP40, RREB1, SCARNA27, SERPINB1, SERPINB6, SERPINB9, SERPINB9-AS1, SLC22A23, SLC35B3, SMIM13, SNRNP48, SSR1, SYCP2L, TBC1D7, TBC1D7-LOC100130357, TFAP2A, TFAP2A-AS1, TFAP2A-AS2, TMEM14B, TMEM14B-DT, TMEM14C, TMEM170B, TUBB2A, TUBB2B, TXNDC5, WRNIP1, ADTRP, BLOC1S5, BLOC1S5-TXNDC5, BMP6, BPHL, C6orf201, C6orf52, CAGE1, CDYL, CDYL-AS1, DSP, DSP-AS1, 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, GMDS, GMDS-DT, HIVEP1, HULC, HUS1B, IRF4, KU-MEL-3, LINC00518, LINC01011, LINC01394, LINC01600, LINC01622, LINC02521, LINC02522, LINC02525, LINC02530, LINC02533, LINC03066, LOC100130357, LOC100422781, LOC100506207, LOC100507336, LOC101927691, LOC101927759, LOC101927888, LOC101927950, LOC101928004, LOC101928191, LOC101928253, LOC102724096, LOC105374901, LOC105374928, LOC106794091, LOC108281148, LOC110121052, LOC110121091, LOC110121246, LOC110121247, LOC110121274, LOC111429615, LOC111591500, LOC111721709, LOC113121298, LOC113146407, LOC113146411, LOC113174976, LOC113174977, LOC113174978, LOC113174985, LOC113174986, LOC113174998, LOC113174999, LOC113175008, LOC113175009, LOC113175013, LOC113175014, LOC113175015, LOC113175016, LOC114827828, LOC116158537, LOC116158538, LOC116158539, LOC121099719, LOC121099720, LOC121099721, LOC121099722, LOC121099724, LOC121106426, LOC121113497, LOC121740636, LOC121740637, LOC121740638, LOC121740639, LOC121740640, LOC121740641, 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, 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 | | See cases | Pathogenic (Apr 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr6:165675-9036267
- GRCh38:
- Chr6:165675-9036034
| LOC126859570, LOC126859571, LOC126859572, LOC126859573, LOC126859574, LOC126859575, LOC126859576, LOC126859577, LOC126859578, LOC126859579, LOC126859580, LOC126859581, LOC643327, LY86, LY86-AS1, LYRM4, LYRM4-AS1, MIR3691, MIR4645, MIR5683, MIR6720, MIR7853, MYLK4, NQO2, NQO2-AS1, NRN1, PPP1R3G, PRPF4B, PSMG4, PXDC1, RIOK1, RIPK1, RPP40, RREB1, SCARNA27, SERPINB1, SERPINB6, SERPINB9, SERPINB9-AS1, SLC22A23, SLC35B3, SNRNP48, SSR1, TUBB2A, TUBB2B, TXNDC5, WRNIP1, BLOC1S5, BLOC1S5-TXNDC5, BMP6, BPHL, C6orf201, CAGE1, CDYL, CDYL-AS1, DSP, DSP-AS1, DUSP22, ECI2, ECI2-DT, EEF1E1, EEF1E1-BLOC1S5, EXOC2, F13A1, FAM217A, FAM50B, FARS2, FARS2-AS1, FOXC1, FOXCUT, FOXF2, FOXF2-DT, FOXQ1, GMDS, GMDS-DT, HULC, HUS1B, IRF4, KU-MEL-3, LINC01011, LINC01394, LINC01600, LINC01622, LINC02521, LINC02525, LINC02533, LINC03066, LOC100422781, LOC100506207, LOC100507336, LOC101927691, LOC101927759, LOC101927888, LOC101927950, LOC101928004, LOC102724096, LOC105374901, LOC106794091, LOC108281148, LOC110121091, LOC110121246, LOC110121247, LOC110121274, LOC111429615, LOC111721709, LOC113174976, LOC113174977, LOC113174978, LOC113174985, LOC113174986, LOC113174998, LOC113174999, LOC113175008, LOC113175009, LOC113175013, LOC113175014, LOC113175015, LOC113175016, LOC114827828, LOC116158537, LOC116158538, LOC116158539, LOC121099719, LOC121099720, LOC121099721, LOC121099722, LOC121099724, LOC121106426, LOC121740636, LOC121740637, LOC123575642, LOC123575643, LOC123575644, LOC123575645, LOC123575646, LOC123575647, LOC123575648, LOC123575649, LOC123575650, LOC123575651, LOC123575652, LOC123575653, LOC123575654, LOC123575655, LOC123575656, LOC123575657, LOC123575658, LOC123575659, LOC123575660, LOC123575661, LOC123575662, LOC123575663, LOC123575664, LOC126859546, LOC126859547, LOC126859548, LOC126859549, LOC126859550, LOC126859551, LOC126859552, LOC126859553, LOC126859554, LOC126859555, LOC126859556, LOC126859557, LOC126859558, LOC126859559, LOC126859560, LOC126859561, LOC126859562, LOC126859563, LOC126859564, LOC126859565, LOC126859566, LOC126859567, LOC126859568, LOC126859569 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr6:389423-13475188
- GRCh38:
- Chr6:389423-13474956
| ADTRP, BLOC1S5, BLOC1S5-TXNDC5, BMP6, BPHL, C6orf201, C6orf52, CAGE1, CDYL, CDYL-AS1, DSP, DSP-AS1, 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, GMDS, GMDS-DT, HIVEP1, HULC, HUS1B, IRF4, KU-MEL-3, LINC00518, LINC01011, LINC01394, LINC01600, LINC01622, LINC02521, LINC02522, LINC02525, LINC02530, LINC02533, LOC100130357, LOC100422781, LOC100506207, LOC100507336, LOC101927691, LOC101927759, LOC101927888, LOC101927950, LOC101928004, LOC101928191, LOC101928253, LOC102724096, LOC105374901, LOC105374928, LOC106794091, LOC108281148, LOC110121052, LOC110121091, LOC110121246, LOC110121247, LOC110121274, LOC111429615, LOC111591500, LOC111721709, LOC113121298, LOC113146407, LOC113146411, LOC113174976, LOC113174977, LOC113174978, LOC113174985, LOC113174986, LOC113174998, LOC113174999, LOC113175008, LOC113175009, LOC113175013, LOC113175014, LOC113175015, LOC113175016, LOC114827828, LOC116158537, LOC116158538, LOC116158539, LOC121099719, LOC121099720, LOC121099721, LOC121099722, LOC121099724, LOC121106426, LOC121113497, LOC121740636, LOC121740637, LOC121740638, LOC121740639, LOC121740640, LOC121740641, LOC121740642, 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, 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, LOC643327, LY86, LY86-AS1, LYRM4, LYRM4-AS1, MAK, MIR3691, MIR4645, MIR5683, MIR5689, MIR5689HG, MIR6720, MIR7853, MYLK4, NEDD9, NQO2, NQO2-AS1, NRN1, OFCC1, PAK1IP1, PHACTR1, PPP1R3G, PRPF4B, PSMG4, PXDC1, RIOK1, RIPK1, RPP40, RREB1, SCARNA27, SERPINB1, SERPINB6, SERPINB9, SERPINB9-AS1, SLC22A23, SLC35B3, SMIM13, SNRNP48, SSR1, SYCP2L, TBC1D7, TBC1D7-LOC100130357, TFAP2A, TFAP2A-AS1, TFAP2A-AS2, TMEM14B, TMEM14B-DT, TMEM14C, TMEM170B, TUBB2A, TUBB2B, TXNDC5, WRNIP1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - 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, LOC100507336, LOC101927759, LOC101927888, LOC101927950, LOC101928004, LOC101928191, LOC101928253, LOC102724096, LOC105374901, LOC105374928, LOC105374943, 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 cases | Pathogenic (Jun 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr6:3224544-30624967
- GRCh38:
- Chr6:3224310-30657190
| 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, GNL1, GPLD1, GPX5, GPX6, 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, HCG17, HCG18, HCG4, HCG4B, HCG9, HCP5B, HDGFL1, HFE, HFE-AS1, HIVEP1, HLA-A, HLA-E, HLA-F, HLA-F-AS1, HLA-G, HMGN4, 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, LINC02569, LINC02828, LINC02829, LINC03003, LINC03005, LNC-LBCS, LOC100130357, LOC100131289, LOC100422781, LOC100506207, LOC100507336, LOC101927888, LOC101927950, LOC101928004, LOC101928191, LOC101928253, LOC101928491, LOC101928519, LOC101928663, LOC102724096, LOC102724749, LOC102724765, LOC105374901, LOC105374928, LOC105374943, LOC105374960, LOC105374988, LOC105374989, 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, 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, TRH-GTG1-5, TRI-AAT2-1, 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, TRI-AAT3-1, TRF-GAA4-1, TRF-GAA5-1, TRF-GAA6-1, TRG-GCC2-3, 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, ATAT1, ATXN1, ATXN1-AS1, BLOC1S5, BLOC1S5-TXNDC5, BMP6, BTN1A1, BTN2A1, BTN2A2, BTN3A1, BTN3A2, BTN3A3, C6orf136, C6orf201, C6orf52, C6orf62, CAGE1, CAP2, CARMIL1 | | See cases | Pathogenic (Jun 11, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr6:4069026-13268031
- GRCh38:
- Chr6:4068792-13267799
| ADTRP, BLOC1S5, BLOC1S5-TXNDC5, BMP6, C6orf201, C6orf52, CAGE1, CDYL, CDYL-AS1, DSP, DSP-AS1, ECI2, ECI2-DT, EDN1, EEF1E1, EEF1E1-BLOC1S5, ELOVL2, ELOVL2-AS1, ERVFRD-1, F13A1, FAM217A, FARS2, FARS2-AS1, GCM2, GCNT2, HIVEP1, HULC, KU-MEL-3, LINC00518, LINC02522, LINC02530, LINC02533, LOC100506207, LOC101927888, LOC101927950, LOC101928004, LOC101928191, LOC101928253, LOC102724096, LOC105374901, LOC105374928, LOC110121052, LOC110121246, LOC110121247, LOC110121274, LOC111591500, LOC111721709, LOC113121298, LOC113146407, LOC113146411, LOC113174999, LOC113175008, LOC113175009, LOC113175013, LOC113175014, LOC113175015, LOC113175016, LOC114827828, LOC116158539, LOC121099721, LOC121099722, LOC121099724, LOC121106426, LOC121113497, LOC121740637, LOC121740638, LOC121740639, LOC121740640, LOC121740641, LOC123575660, LOC123575661, LOC123575662, LOC123575663, LOC123575664, LOC123575665, LOC123575666, LOC123575667, LOC123575668, LOC123575669, LOC123575670, LOC123575671, LOC123575672, 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, LY86, LY86-AS1, LYRM4, LYRM4-AS1, MAK, MIR3691, MIR5683, MIR5689, MIR5689HG, MIR7853, NEDD9, NRN1, OFCC1, PAK1IP1, PHACTR1, PPP1R3G, RIOK1, RPP40, RREB1, SCARNA27, SLC35B3, SMIM13, SNRNP48, SSR1, SYCP2L, TBC1D7-LOC100130357, TFAP2A, TFAP2A-AS1, TFAP2A-AS2, TMEM14B, TMEM14B-DT, TMEM14C, TMEM170B, TXNDC5 | | See cases | Pathogenic (Oct 14, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr6:4427324-8391373
- GRCh38:
- Chr6:4427090-8391140
| BLOC1S5, BLOC1S5-TXNDC5, BMP6, CAGE1, CDYL, CDYL-AS1, DSP, DSP-AS1, EEF1E1, EEF1E1-BLOC1S5, F13A1, FARS2, FARS2-AS1, KU-MEL-3, LINC02533, LOC101927950, LOC101928004, LOC105374901, LOC110121247, LOC110121274, LOC111721709, LOC113174999, LOC113175008, LOC113175009, LOC113175013, LOC113175014, LOC113175015, LOC113175016, LOC114827828, LOC121099722, LOC121099724, LOC121740637, LOC123575660, LOC123575661, LOC123575662, LOC123575663, LOC123575664, LOC126859560, LOC126859561, LOC126859562, LOC126859563, LOC126859564, LOC126859565, LOC126859566, LOC126859567, LOC126859568, LOC126859569, LOC126859570, LOC126859571, LOC126859572, LOC126859573, LOC126859574, LOC126859575, LOC126859576, LOC126859577, LOC126859578, LOC126859579, LOC126859580, LY86, LY86-AS1, LYRM4, LYRM4-AS1, MIR3691, MIR5683, MIR7853, NRN1, PPP1R3G, RIOK1, RPP40, RREB1, SCARNA27, SNRNP48, SSR1, TXNDC5 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7541583
- GRCh38:
- Chr6:7541350
| DSP, DSP-AS1 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7541611
- GRCh38:
- Chr6:7541378
| DSP, DSP-AS1 | | not provided | Benign (Jun 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7541868
- GRCh38:
- Chr6:7541635
| DSP, DSP-AS1 | | Skin fragility-woolly hair-palmoplantar keratoderma syndrome, Lethal acantholytic epidermolysis bullosa, Epidermolysis bullosa simplex due to plakophilin deficiency, Arrhythmogenic right ventricular cardiomyopathy | Likely benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7541889
- GRCh38:
- Chr6:7541656
| DSP, DSP-AS1 | | Arrhythmogenic right ventricular cardiomyopathy, Epidermolysis bullosa simplex due to plakophilin deficiency, Lethal acantholytic epidermolysis bullosa, Skin fragility-woolly hair-palmoplantar keratoderma syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7541921
- GRCh38:
- Chr6:7541688
| DSP, DSP-AS1 | | Arrhythmogenic right ventricular cardiomyopathy, Lethal acantholytic epidermolysis bullosa, Skin fragility-woolly hair-palmoplantar keratoderma syndrome, Epidermolysis bullosa simplex due to plakophilin deficiency | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7541959
- GRCh38:
- Chr6:7541726
| DSP, DSP-AS1 | | Arrhythmogenic right ventricular cardiomyopathy, Lethal acantholytic epidermolysis bullosa, Skin fragility-woolly hair-palmoplantar keratoderma syndrome, Epidermolysis bullosa simplex due to plakophilin deficiency | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7541970
- GRCh38:
- Chr6:7541737
| DSP, DSP-AS1 | | Arrhythmogenic right ventricular cardiomyopathy, Lethal acantholytic epidermolysis bullosa, Epidermolysis bullosa simplex due to plakophilin deficiency, Skin fragility-woolly hair-palmoplantar keratoderma syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7541992
- GRCh38:
- Chr6:7541759
| DSP, DSP-AS1 | | Skin fragility-woolly hair-palmoplantar keratoderma syndrome, Lethal acantholytic epidermolysis bullosa, Keratosis palmoplantaris striata 2, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis, Skin fragility-woolly hair-palmoplantar keratoderma syndrome, Lethal acantholytic epidermolysis bullosa, Arrhythmogenic right ventricular dysplasia 8
| Uncertain significance (Sep 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7542045
- GRCh38:
- Chr6:7541812
| DSP, DSP-AS1 | | Lethal acantholytic epidermolysis bullosa, Skin fragility-woolly hair-palmoplantar keratoderma syndrome, Arrhythmogenic right ventricular dysplasia 8
| Uncertain significance (Jan 30, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542073
- GRCh38:
- Chr6:7541840
| DSP-AS1, DSP | | Lethal acantholytic epidermolysis bullosa, Skin fragility-woolly hair-palmoplantar keratoderma syndrome, Arrhythmogenic right ventricular dysplasia 8
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542079
- GRCh38:
- Chr6:7541846
| DSP, DSP-AS1 | | Lethal acantholytic epidermolysis bullosa, Skin fragility-woolly hair-palmoplantar keratoderma syndrome, Arrhythmogenic right ventricular dysplasia 8, Keratosis palmoplantaris striata 2, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Skin fragility-woolly hair-palmoplantar keratoderma syndrome, Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis, Lethal acantholytic epidermolysis bullosa
| Uncertain significance (Aug 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7542105
- GRCh38:
- Chr6:7541872
| DSP-AS1, DSP | | not specified | Likely benign (Sep 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542113
- GRCh38:
- Chr6:7541880
| DSP-AS1, DSP | | Arrhythmogenic right ventricular cardiomyopathy, Epidermolysis bullosa simplex due to plakophilin deficiency, Lethal acantholytic epidermolysis bullosa, Skin fragility-woolly hair-palmoplantar keratoderma syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542115
- GRCh38:
- Chr6:7541882
| DSP, DSP-AS1 | | not provided | Benign (Mar 3, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542117
- GRCh38:
- Chr6:7541884
| DSP, DSP-AS1 | | not provided | Likely benign (Apr 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542129-7586131
- GRCh38:
- Chr6:7541896-7585898
| DSP, DSP-AS1, LOC110121274 | | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Pathogenic (Aug 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542139-7586121
- GRCh38:
- Chr6:7541906-7585888
| DSP, DSP-AS1, LOC110121274 | | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Pathogenic (Mar 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542147-7542148
- GRCh38:
- Chr6:7541914-7541915
| DSP, DSP-AS1 | | Cardiovascular phenotype | Uncertain significance (Feb 21, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542149
- GRCh38:
- Chr6:7541915-7541916
| DSP, DSP-AS1 | M1fs | Cardiovascular phenotype, not specified, not provided, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy, Lethal acantholytic epidermolysis bullosa, Skin fragility-woolly hair-palmoplantar keratoderma syndrome, Arrhythmogenic right ventricular dysplasia 8 | Conflicting interpretations of pathogenicity (Sep 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:7542149
- GRCh38:
- Chr6:7541916
| DSP-AS1, DSP | M1V | Cardiomyopathy, Cardiovascular phenotype, not provided
| Conflicting interpretations of pathogenicity (Nov 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:7542150
- GRCh38:
- Chr6:7541917
| DSP, DSP-AS1 | M1R | not provided, not specified, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy | Uncertain significance (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7542154
- GRCh38:
- Chr6:7541921
| DSP, DSP-AS1 | | Cardiomyopathy, Cardiovascular phenotype | Likely benign (Nov 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7542156
- GRCh38:
- Chr6:7541923
| DSP, DSP-AS1 | C3Y | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Uncertain significance (Oct 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542157
- GRCh38:
- Chr6:7541924
| DSP, DSP-AS1 | C3W | not provided | Uncertain significance (Mar 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542157
- GRCh38:
- Chr6:7541924
| DSP, DSP-AS1 | | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8, Skin fragility-woolly hair-palmoplantar keratoderma syndrome, Lethal acantholytic epidermolysis bullosa | Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:7542160
- GRCh38:
- Chr6:7541927
| DSP, DSP-AS1 | | Cardiomyopathy, Cardiovascular phenotype, not provided, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Likely benign (Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7542160
- GRCh38:
- Chr6:7541927
| DSP, DSP-AS1 | N4K | Cardiovascular phenotype, not specified, not provided, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8, Lethal acantholytic epidermolysis bullosa, Skin fragility-woolly hair-palmoplantar keratoderma syndrome
| Conflicting interpretations of pathogenicity (Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:7542162
- GRCh38:
- Chr6:7541929
| DSP, DSP-AS1 | G5A | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542165
- GRCh38:
- Chr6:7541932
| DSP, DSP-AS1 | G6A | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, not provided
| Uncertain significance (Dec 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7542165
- GRCh38:
- Chr6:7541932
| DSP, DSP-AS1 | G6D | Cardiomyopathy | Uncertain significance (Jul 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542168
- GRCh38:
- Chr6:7541935
| DSP, DSP-AS1 | S7F | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Uncertain significance (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542169
- GRCh38:
- Chr6:7541936
| DSP, DSP-AS1 | | not specified, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Benign/Likely benign (Jun 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7542174
- GRCh38:
- Chr6:7541941
| DSP, DSP-AS1 | P9Q | Cardiomyopathy, Cardiovascular phenotype | Uncertain significance (Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7542178
- GRCh38:
- Chr6:7541945
| DSP, DSP-AS1 | | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Likely benign (Oct 31, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542179
- GRCh38:
- Chr6:7541946
| DSP, DSP-AS1 | I11V | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Uncertain significance (Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542182
- GRCh38:
- Chr6:7541949
| DSP-AS1, DSP | N12H | Cardiomyopathy | Uncertain significance (Nov 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542183
- GRCh38:
- Chr6:7541950
| DSP, DSP-AS1 | N12S | Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
| Uncertain significance (Dec 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7542184
- GRCh38:
- Chr6:7541951
| DSP, DSP-AS1 | | Skin fragility-woolly hair-palmoplantar keratoderma syndrome, Arrhythmogenic right ventricular dysplasia 8, Lethal acantholytic epidermolysis bullosa
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542186
- GRCh38:
- Chr6:7541953
| DSP-AS1, DSP | T13I | Cardiomyopathy, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Skin fragility-woolly hair-palmoplantar keratoderma syndrome, Keratosis palmoplantaris striata 2, Lethal acantholytic epidermolysis bullosa, Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
| Conflicting interpretations of pathogenicity (Aug 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:7542191
- GRCh38:
- Chr6:7541958
| DSP, DSP-AS1 | G15S | Cardiovascular phenotype | Uncertain significance (Jul 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542192
- GRCh38:
- Chr6:7541959
| DSP, DSP-AS1 | G15D | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Uncertain significance (Feb 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542194
- GRCh38:
- Chr6:7541961
| DSP, DSP-AS1 | R16C | Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
| Uncertain significance (Dec 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7542194
- GRCh38:
- Chr6:7541961
| DSP-AS1, DSP | R16S | Cardiomyopathy | Uncertain significance (Oct 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542195
- GRCh38:
- Chr6:7541962
| DSP, DSP-AS1 | R16H | Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma
| Conflicting interpretations of pathogenicity (Aug 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:7542195
- GRCh38:
- Chr6:7541962
| DSP, DSP-AS1 | R16P | Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis, Keratosis palmoplantaris striata 2, Lethal acantholytic epidermolysis bullosa, Skin fragility-woolly hair-palmoplantar keratoderma syndrome, not provided, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy ...see more | Conflicting interpretations of pathogenicity (Aug 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:7542196
- GRCh38:
- Chr6:7541963
| DSP, DSP-AS1 | | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Likely benign (Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542197
- GRCh38:
- Chr6:7541964
| DSP, DSP-AS1 | M17V | Cardiovascular phenotype | Uncertain significance (Jan 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542198
- GRCh38:
- Chr6:7541965
| DSP, DSP-AS1 | M17T | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Uncertain significance (Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542198
- GRCh38:
- Chr6:7541965
| DSP, DSP-AS1 | M17R | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiovascular phenotype
| Uncertain significance (Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7542201
- GRCh38:
- Chr6:7541968
| DSP, DSP-AS1 | I18T | Cardiomyopathy | Likely benign (Feb 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542203
- GRCh38:
- Chr6:7541970
| DSP, DSP-AS1 | R19S | not provided, Cardiomyopathy, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Conflicting interpretations of pathogenicity (Feb 21, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:7542203
- GRCh38:
- Chr6:7541970
| DSP, DSP-AS1 | R19C | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Primary dilated cardiomyopathy
| Conflicting interpretations of pathogenicity (Sep 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:7542204
- GRCh38:
- Chr6:7541971
| DSP, DSP-AS1 | R19H | Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
| Uncertain significance (Jun 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7542205
- GRCh38:
- Chr6:7541972
| DSP, DSP-AS1 | | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Likely benign (Nov 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542209
- GRCh38:
- Chr6:7541976
| DSP, DSP-AS1 | E21K | Cardiovascular phenotype, not provided, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Cardiomyopathy | Conflicting interpretations of pathogenicity (Aug 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:7542212
- GRCh38:
- Chr6:7541979
| DSP, DSP-AS1 | S22P | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Uncertain significance (Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542213
- GRCh38:
- Chr6:7541980
| DSP, DSP-AS1 | S22C | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Uncertain significance (Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542215
- GRCh38:
- Chr6:7541982
| DSP, DSP-AS1 | G23S | Cardiomyopathy, Cardiovascular phenotype | Uncertain significance (Mar 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7542219
- GRCh38:
- Chr6:7541986
| DSP-AS1, DSP | P24L | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542219
- GRCh38:
- Chr6:7541986
| DSP, DSP-AS1 | P24R | Arrhythmogenic right ventricular dysplasia 8 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542220
- GRCh38:
- Chr6:7541987
| DSP, DSP-AS1 | | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Likely benign (May 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542221
- GRCh38:
- Chr6:7541988
| DSP, DSP-AS1 | D25Y | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542226
- GRCh38:
- Chr6:7541993
| DSP, DSP-AS1 | | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Likely benign (Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542226
- GRCh38:
- Chr6:7541993
| DSP, DSP-AS1 | | Cardiomyopathy | Likely benign (Mar 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542226
- GRCh38:
- Chr6:7541993
| DSP, DSP-AS1 | | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Skin fragility-woolly hair-palmoplantar keratoderma syndrome, Lethal acantholytic epidermolysis bullosa, Keratosis palmoplantaris striata 2, Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis, not provided, Cardiomyopathy, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiovascular phenotype ...see more | Likely benign (Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7542229
- GRCh38:
- Chr6:7541996
| DSP, DSP-AS1 | | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Likely benign (Oct 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7542229
- GRCh38:
- Chr6:7541996
| DSP, DSP-AS1 | | Cardiovascular phenotype, not provided, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Likely benign (Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7542230
- GRCh38:
- Chr6:7541997
| DSP, |