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Items: 1 to 100 of 3885

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
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 casesPathogenic
(Nov 27, 2012)
no assertion criteria provided
3.
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 casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
4.
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 casesPathogenic
(Mar 18, 2014)
no assertion criteria provided
5.
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 casesLikely pathogenic
(Dec 3, 2013)
no assertion criteria provided
6.
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 casesPathogenic
(Jul 1, 2013)
no assertion criteria provided
7.
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 casesLikely pathogenic
(Mar 18, 2014)
no assertion criteria provided
8.
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 casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
9.
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 casesPathogenic
(Apr 30, 2010)
no assertion criteria provided
10.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
11.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
12.
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 casesPathogenic
(Jun 30, 2010)
no assertion criteria provided
13.
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 casesPathogenic
(Jun 11, 2012)
no assertion criteria provided
14.
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 casesPathogenic
(Oct 14, 2010)
no assertion criteria provided
15.
GRCh37:
Chr6:4427324-8391373
GRCh38:
Chr6:4427090-8391140
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
16.
GRCh37:
Chr6:7541583
GRCh38:
Chr6:7541350
DSP, DSP-AS1not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr6:7541611
GRCh38:
Chr6:7541378
DSP, DSP-AS1not providedBenign
(Jun 18, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr6:7541868
GRCh38:
Chr6:7541635
DSP, DSP-AS1Skin 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
19.
GRCh37:
Chr6:7541889
GRCh38:
Chr6:7541656
DSP, DSP-AS1Arrhythmogenic 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
20.
GRCh37:
Chr6:7541921
GRCh38:
Chr6:7541688
DSP, DSP-AS1Arrhythmogenic 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
21.
GRCh37:
Chr6:7541959
GRCh38:
Chr6:7541726
DSP, DSP-AS1Arrhythmogenic 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
22.
GRCh37:
Chr6:7541970
GRCh38:
Chr6:7541737
DSP, DSP-AS1Arrhythmogenic 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
23.
GRCh37:
Chr6:7541992
GRCh38:
Chr6:7541759
DSP, DSP-AS1Skin 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
24.
GRCh37:
Chr6:7542045
GRCh38:
Chr6:7541812
DSP, DSP-AS1Lethal acantholytic epidermolysis bullosa, Skin fragility-woolly hair-palmoplantar keratoderma syndrome, Arrhythmogenic right ventricular dysplasia 8
Uncertain significance
(Jan 30, 2019)
criteria provided, single submitter
25.
GRCh37:
Chr6:7542073
GRCh38:
Chr6:7541840
DSP-AS1, DSPLethal acantholytic epidermolysis bullosa, Skin fragility-woolly hair-palmoplantar keratoderma syndrome, Arrhythmogenic right ventricular dysplasia 8
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr6:7542079
GRCh38:
Chr6:7541846
DSP, DSP-AS1Lethal 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
27.
GRCh37:
Chr6:7542105
GRCh38:
Chr6:7541872
DSP-AS1, DSPnot specifiedLikely benign
(Sep 1, 2017)
criteria provided, single submitter
28.
GRCh37:
Chr6:7542113
GRCh38:
Chr6:7541880
DSP-AS1, DSPArrhythmogenic 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
29.
GRCh37:
Chr6:7542115
GRCh38:
Chr6:7541882
DSP, DSP-AS1not providedBenign
(Mar 3, 2015)
criteria provided, single submitter
30.
GRCh37:
Chr6:7542117
GRCh38:
Chr6:7541884
DSP, DSP-AS1not providedLikely benign
(Apr 12, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr6:7542129-7586131
GRCh38:
Chr6:7541896-7585898
DSP, DSP-AS1, LOC110121274Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8Pathogenic
(Aug 14, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr6:7542139-7586121
GRCh38:
Chr6:7541906-7585888
DSP, DSP-AS1, LOC110121274Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8Pathogenic
(Mar 15, 2019)
criteria provided, single submitter
33.
GRCh37:
Chr6:7542147-7542148
GRCh38:
Chr6:7541914-7541915
DSP, DSP-AS1Cardiovascular phenotypeUncertain significance
(Feb 21, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr6:7542149
GRCh38:
Chr6:7541915-7541916
DSP, DSP-AS1M1fsCardiovascular 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
35.
GRCh37:
Chr6:7542149
GRCh38:
Chr6:7541916
DSP-AS1, DSPM1VCardiomyopathy, Cardiovascular phenotype, not provided
Conflicting interpretations of pathogenicity
(Nov 23, 2022)
criteria provided, conflicting interpretations
36.
GRCh37:
Chr6:7542150
GRCh38:
Chr6:7541917
DSP, DSP-AS1M1Rnot 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
37.
GRCh37:
Chr6:7542154
GRCh38:
Chr6:7541921
DSP, DSP-AS1Cardiomyopathy, Cardiovascular phenotypeLikely benign
(Nov 9, 2021)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr6:7542156
GRCh38:
Chr6:7541923
DSP, DSP-AS1C3YArrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8Uncertain significance
(Oct 7, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr6:7542157
GRCh38:
Chr6:7541924
DSP, DSP-AS1C3Wnot providedUncertain significance
(Mar 1, 2023)
criteria provided, single submitter
40.
GRCh37:
Chr6:7542157
GRCh38:
Chr6:7541924
DSP, DSP-AS1Cardiovascular 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
41.
GRCh37:
Chr6:7542160
GRCh38:
Chr6:7541927
DSP, DSP-AS1Cardiomyopathy, 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
42.
GRCh37:
Chr6:7542160
GRCh38:
Chr6:7541927
DSP, DSP-AS1N4KCardiovascular 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
43.
GRCh37:
Chr6:7542162
GRCh38:
Chr6:7541929
DSP, DSP-AS1G5AArrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratodermaUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr6:7542165
GRCh38:
Chr6:7541932
DSP, DSP-AS1G6AArrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, not provided
Uncertain significance
(Dec 12, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr6:7542165
GRCh38:
Chr6:7541932
DSP, DSP-AS1G6DCardiomyopathyUncertain significance
(Jul 19, 2019)
criteria provided, single submitter
46.
GRCh37:
Chr6:7542168
GRCh38:
Chr6:7541935
DSP, DSP-AS1S7FArrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8Uncertain significance
(Jul 6, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr6:7542169
GRCh38:
Chr6:7541936
DSP, DSP-AS1not 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
48.
GRCh37:
Chr6:7542174
GRCh38:
Chr6:7541941
DSP, DSP-AS1P9QCardiomyopathy, Cardiovascular phenotypeUncertain significance
(Mar 1, 2023)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr6:7542178
GRCh38:
Chr6:7541945
DSP, DSP-AS1Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8Likely benign
(Oct 31, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr6:7542179
GRCh38:
Chr6:7541946
DSP, DSP-AS1I11VArrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8Uncertain significance
(Mar 26, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr6:7542182
GRCh38:
Chr6:7541949
DSP-AS1, DSPN12HCardiomyopathyUncertain significance
(Nov 26, 2019)
criteria provided, single submitter
52.
GRCh37:
Chr6:7542183
GRCh38:
Chr6:7541950
DSP, DSP-AS1N12SCardiovascular phenotype, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
Uncertain significance
(Dec 15, 2021)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr6:7542184
GRCh38:
Chr6:7541951
DSP, DSP-AS1Skin fragility-woolly hair-palmoplantar keratoderma syndrome, Arrhythmogenic right ventricular dysplasia 8, Lethal acantholytic epidermolysis bullosa
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr6:7542186
GRCh38:
Chr6:7541953
DSP-AS1, DSPT13ICardiomyopathy, 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
55.
GRCh37:
Chr6:7542191
GRCh38:
Chr6:7541958
DSP, DSP-AS1G15SCardiovascular phenotypeUncertain significance
(Jul 27, 2019)
criteria provided, single submitter
56.
GRCh37:
Chr6:7542192
GRCh38:
Chr6:7541959
DSP, DSP-AS1G15DArrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratodermaUncertain significance
(Feb 1, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr6:7542194
GRCh38:
Chr6:7541961
DSP, DSP-AS1R16CCardiovascular phenotype, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
Uncertain significance
(Dec 22, 2021)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr6:7542194
GRCh38:
Chr6:7541961
DSP-AS1, DSPR16SCardiomyopathyUncertain significance
(Oct 29, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr6:7542195
GRCh38:
Chr6:7541962
DSP, DSP-AS1R16HCardiomyopathy, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma
Conflicting interpretations of pathogenicity
(Aug 9, 2022)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr6:7542195
GRCh38:
Chr6:7541962
DSP, DSP-AS1R16PCardiovascular 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
61.
GRCh37:
Chr6:7542196
GRCh38:
Chr6:7541963
DSP, DSP-AS1Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8Likely benign
(Mar 8, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr6:7542197
GRCh38:
Chr6:7541964
DSP, DSP-AS1M17VCardiovascular phenotypeUncertain significance
(Jan 1, 2023)
criteria provided, single submitter
63.
GRCh37:
Chr6:7542198
GRCh38:
Chr6:7541965
DSP, DSP-AS1M17TArrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratodermaUncertain significance
(Apr 4, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr6:7542198
GRCh38:
Chr6:7541965
DSP, DSP-AS1M17RArrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiovascular phenotype
Uncertain significance
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr6:7542201
GRCh38:
Chr6:7541968
DSP, DSP-AS1I18TCardiomyopathyLikely benign
(Feb 2, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr6:7542203
GRCh38:
Chr6:7541970
DSP, DSP-AS1R19Snot 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
67.
GRCh37:
Chr6:7542203
GRCh38:
Chr6:7541970
DSP, DSP-AS1R19CArrhythmogenic 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
68.
GRCh37:
Chr6:7542204
GRCh38:
Chr6:7541971
DSP, DSP-AS1R19HCardiovascular phenotype, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
Uncertain significance
(Jun 6, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr6:7542205
GRCh38:
Chr6:7541972
DSP, DSP-AS1Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8Likely benign
(Nov 1, 2020)
criteria provided, single submitter
70.
GRCh37:
Chr6:7542209
GRCh38:
Chr6:7541976
DSP, DSP-AS1E21KCardiovascular 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
71.
GRCh37:
Chr6:7542212
GRCh38:
Chr6:7541979
DSP, DSP-AS1S22PArrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8Uncertain significance
(Sep 24, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr6:7542213
GRCh38:
Chr6:7541980
DSP, DSP-AS1S22CArrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8Uncertain significance
(Apr 25, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr6:7542215
GRCh38:
Chr6:7541982
DSP, DSP-AS1G23SCardiomyopathy, Cardiovascular phenotypeUncertain significance
(Mar 18, 2023)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr6:7542219
GRCh38:
Chr6:7541986
DSP-AS1, DSPP24LArrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr6:7542219
GRCh38:
Chr6:7541986
DSP, DSP-AS1P24RArrhythmogenic right ventricular dysplasia 8Uncertain significancecriteria provided, single submitter
76.
GRCh37:
Chr6:7542220
GRCh38:
Chr6:7541987
DSP, DSP-AS1Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8Likely benign
(May 19, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr6:7542221
GRCh38:
Chr6:7541988
DSP, DSP-AS1D25YArrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr6:7542226
GRCh38:
Chr6:7541993
DSP, DSP-AS1Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8Likely benign
(Dec 2, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr6:7542226
GRCh38:
Chr6:7541993
DSP, DSP-AS1CardiomyopathyLikely benign
(Mar 16, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr6:7542226
GRCh38:
Chr6:7541993
DSP, DSP-AS1Arrhythmogenic 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
81.
GRCh37:
Chr6:7542229
GRCh38:
Chr6:7541996
DSP, DSP-AS1Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8Likely benign
(Oct 10, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr6:7542229
GRCh38:
Chr6:7541996
DSP, DSP-AS1Cardiovascular 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
83.
GRCh37:
Chr6:7542230
GRCh38:
Chr6:7541997
DSP,