| - GRCh37:
- Chr6:75092523-142361637
- GRCh38:
- Chr6:74382807-142040500
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MIR548H5, MIR587, MIR588, MMS22L, MOXD1, MRAP2, MROCKI, MTCL3, MTFR2, ABRACL, AFG1L, AHI1, AHI1-DT, AK9, AKAP7, AKIRIN2, ALDH8A1, AMD1, ANKRD6, ARFGEF3, ARG1, ARHGAP18, ARMC2, ARMC2-AS1, ASCC3, ASF1A, ATG5, BACH2, BCKDHB, BCLAF1, BEND3, BVES, BVES-AS1, C6orf163, C6orf183, C6orf58, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CASC6, CASP8AP2, CCDC28A, CCDC28A-AS1, CCN2, CCN2-AS1, CCN6, CCNC, CD164, CD24, CDC40, CDK19, CENPW, CEP162, CEP57L1, CEP85L, CFAP206, CGA, CITED2, CLVS2, CNR1, COL10A1, COL12A1, COQ3, COX7A2, CRE2, CRYBG1, CT69, CTAGE9, CYB5R4, DCBLD1, DDO, DOP1A, DSE, ECHDC1, ECT2L, ELOVL4, ENPP1, ENPP3, EPB41L2, EPHA7, EYA4, FABP7, FAM162B, FAM184A, FAM229B, FAXC, FBXL4, FHL5, FIG4, FILIP1, FILNC1, FOXO3, FRK, FUT9, FYN, GABRR1, GABRR2, GJA1, GJA10, GJB7, GOPC, GPR6, GPR63, GPRC6A, GRIK2, GTF3C6, HACE1, HBS1L, HDAC2, HDAC2-AS2, HDDC2, HEBP2, HECA, HEY2, HEY2-AS1, HINT3, HMGN3, HMGN3-AS1, HS3ST5, HSF2, HTR1B, HTR1E, IBTK, IFNGR1, IL20RA, IL22RA2, IMPG1, IRAK1BP1, KIAA0408, KLHL32, KPNA5, L3MBTL3, LAMA2, LAMA4, LAMA4-AS1, LCA5, LCAL1, LIN28B, LIN28B-AS1, LINC00222, LINC00326, LINC01010, LINC01013, LINC01312, LINC01526, LINC01590, LINC01611, LINC01621, LINC01625, LINC02518, LINC02523, LINC02524, LINC02526, LINC02527, LINC02531, LINC02532, LINC02534, LINC02535, LINC02539, LINC02540, LINC02541, LINC02542, LINC02836, LINC02865, LINC02880, LINC02941, LINC03002, LINC03004, LNCPOIR, LOC100126584, LOC100287467, LOC101927314, LOC101927919, LOC101928373, LOC101928516, LOC101928540, LOC101928911, LOC101928936, LOC102723341, LOC102723690, LOC102724646, LOC103352541, LOC105377858, LOC105377862, LOC105377879, LOC105377924, LOC105377967, LOC105377975, LOC108169207, LOC108228196, LOC108281144, LOC108348029, LOC110120646, LOC110120647, LOC110120704, LOC110120705, LOC110120709, LOC110120741, LOC110120818, LOC110120970, LOC110120984, LOC110120985, LOC110120999, LOC110121032, LOC110121036, LOC110121046, LOC110121073, LOC110121109, LOC110121145, LOC110121174, LOC110121188, LOC110121195, LOC110121249, LOC110121273, LOC110121301, LOC111365199, LOC111365204, LOC111413030, LOC111413038, LOC111413040, LOC111429613, LOC111589214, LOC113121299, LOC113121300, LOC113121301, LOC113121302, LOC113121303, LOC113121304, LOC113146409, LOC113146413, LOC113146414, LOC113146415, LOC113146417, LOC113146418, LOC113175019, LOC113175020, LOC114803478, LOC116183065, LOC116183066, LOC116183067, LOC116183068, LOC116183069, LOC116183070, LOC116183071, LOC116183072, LOC116183073, LOC116183074, LOC121132695, LOC121132696, LOC121132697, LOC121132698, LOC121132699, LOC121132700, LOC121132701, LOC121132702, LOC121132703, LOC121132704, LOC121132705, LOC121132706, LOC121132707, LOC121132708, LOC121740657, LOC121740658, LOC121740659, LOC121740660, LOC121740661, LOC121740662, LOC121740663, LOC121740664, LOC121740665, LOC121740666, LOC121740667, LOC123775374, LOC123775375, LOC123775376, LOC123775377, LOC123775378, LOC123775379, LOC123775380, LOC123775381, LOC123775382, LOC123775383, LOC123775384, LOC123775385, LOC123775386, LOC123775387, MTRES1, MYB, MYO6, NCOA7, NCOA7-AS1, NDUFAF4, NHEG1, NHSL1, NHSL1-AS1, NKAIN2, NR2E1, NT5DC1, NT5E, NUS1, OLIG3, OR2A4, ORC3, OSTM1, OSTM1-AS1, PBOV1, PDE7B, PDE7B-AS1, PDSS2, PERP, PEX7, PGM3, PHIP, PKIB, PLN, PM20D2, PNISR, PNISR-AS1, PNKY, PNRC1, PNRC1-DT, POPDC3, POU3F2, PPIL6, PRDM1, PRDM13, PREP, PRSS35, PTPRK, PTPRK-AS1, QRSL1, RARS2, REPS1, REV3L, RFPL4B, RFX6, RIPPLY2, RIPPLY2-CYB5R4, RNF146, RNF217, RNF217-AS1, RNGTT, ROS1, RPF2, RPS12, RRAGD, RSPH4A, RSPO3, RTN4IP1, RWDD1, RWDD2A, SAMD3, SCML4, SEC63, SENP6, SERINC1, SESN1, SGK1, SH3BGRL2, SIM1, SIM1-AS1, SIMALR, SLC16A10, SLC18B1, SLC22A16, SLC2A12, SLC35A1, SLC35D3, SLC35F1, SMIM28, SMIM8, SMLR1, SMPD2, SMPDL3A, SNAP91, SNHG5, SNORA33, SNORA40C, SNORD100, SNORD101, SNORD156, SNORD166, SNORD50A, SNORD50B, SNX14, SNX3, SOBP, SOGA3-KIAA0408, SPACA1, SRSF12, STX7, SYNCRIP, TAAR1, TAAR2, TAAR5, TAAR6, TAAR8, TAAR9, TARID, TBC1D32, TBPL1, TBX18, TBX18-AS1, TCF21, TENT5A, THEMIS, TMEM200A, TMEM244, TMEM30A, TMEM30A-DT, TNFAIP3, TPBG, TPD52L1, TRAF3IP2, TRAF3IP2-AS1, TRAPPC3L, TRDN, TRDN-AS1, TRE-CTC1-7, TRMT11, TSG1, TSPYL1, TSPYL4, TSTD3, TTK, TUBE1, TXLNB, UBE2J1, UBE3D, UFL1, UFL1-AS1, USP45, VGLL2, VNN1, VNN2, VNN3, WAKMAR2, WASF1, ZBTB24, ZBTB24-DT, ZNF292, ZUP1 | | See cases | Pathogenic (Jul 5, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr6:97057870-122482694
- GRCh38:
- Chr6:96609994-122161548
| LOC129389591, LOC129389592, LOC129389593, LOC129389594, LOC129389595, LOC129389596, LOC129389597, LOC129389598, LOC129389599, LOC129389600, LOC129389601, LOC129389602, LOC129389603, LOC129389604, LOC129389605, LOC129389606, LOC129389607, LOC129389608, LOC129389609, LOC129389610, LOC129389611, LOC129389612, LOC129389613, LOC129389614, LOC129389615, LOC129389616, LOC129389617, LOC129389618, LOC129389619, LOC129389620, LOC129389621, LOC129389622, LOC129389623, LOC129389624, LOC129389625, LOC129389626, LOC129389627, LOC129996853, LOC129996854, LOC129996855, LOC129996856, LOC129996857, LOC129996858, LOC129996859, LOC129996860, LOC129996861, LOC129996862, LOC129996863, LOC129996864, LOC129996865, LOC129996866, LOC129996867, LOC129996868, LOC129996869, LOC129996870, LOC129996871, LOC129996872, LOC129996873, LOC129996874, LOC129996875, LOC129996876, LOC129996877, LOC129996878, LOC129996879, LOC129996880, LOC129996881, LOC129996882, LOC129996883, LOC129996884, LOC129996885, LOC129996886, LOC129996887, LOC129996888, LOC129996889, LOC129996890, LOC129996891, LOC129996892, LOC129996893, LOC129996894, LOC129996895, LOC129996896, LOC129996897, LOC129996898, LOC129996899, LOC129996900, LOC129996901, LOC129996902, LOC129996903, LOC129996904, LOC129996905, LOC129996906, LOC129996907, LOC129996908, LOC129996909, LOC129996910, LOC129996911, LOC129996912, LOC129996913, LOC129996914, LOC129996915, LOC129996916, LOC129996917, LOC129996918, LOC129996919, LOC129996920, LOC129996921, LOC129996922, LOC129996923, LOC129996924, LOC129996925, LOC129996926, LOC129996927, LOC129996928, LOC129996929, LOC129996930, LOC129996931, LOC129996932, LOC129996933, LOC129996934, LOC129996935, LOC129996936, LOC129996937, LOC129996938, LOC129996939, LOC129996940, LOC129996941, LOC129996942, LOC129996943, LOC129996944, LOC129996945, LOC129996946, LOC129996947, LOC129996948, LOC129996949, LOC129996950, LOC129996951, LOC129996952, LOC129996953, LOC129996954, LOC129996955, LOC129996956, LOC129996957, LOC129996958, LOC129996959, LOC129996960, LOC129996961, LOC129996962, LOC129996963, LOC129996964, LOC129996965, LOC129996966, LOC129996967, LOC129996968, LOC129996969, LOC129996970, LOC129996971, LOC129996972, LOC129996973, LOC129996974, LOC129996975, LOC129996976, LOC129996977, LOC129996978, LOC129996979, LOC129996980, LOC129996981, LOC129996982, LOC129996983, LOC129996984, LOC129996985, LOC129996986, LOC129996987, LOC129996988, LOC129996989, LOC129996990, LOC129996991, LOC129996992, LOC129996993, LOC129996994, LOC129996995, LOC129996996, LOC129996997, LOC129996998, LOC129996999, LOC129997000, LOC129997001, LOC129997002, LOC129997003, LOC129997004, LOC129997005, LOC129997006, LOC129997007, LOC129997008, LOC129997009, LOC129997010, LOC129997011, LOC129997012, LOC129997013, LOC129997014, LOC129997015, LOC129997016, LOC129997017, LOC129997018, LOC129997019, LOC129997020, LOC129997021, LOC129997022, LOC129997023, LOC129997024, LOC129997025, LOC129997026, LOC129997027, LOC129997028, LOC129997029, LOC129997030, LOC129997031, LOC129997032, LOC129997033, LOC129997034, LOC129997035, LOC129997036, LOC129997037, LOC129997038, LOC129997039, LOC129997040, LOC129997041, LOC129997042, LOC129997043, LOC129997044, LOC129997045, LOC129997046, LOC129997047, LOC129997048, LOC129997049, LOC129997050, LOC129997051, LOC129997052, LOC129997053, LOC129997054, LOC129997055, LOC129997056, LOC129997057, LOC129997058, LOC129997059, LOC129997060, LOC129997061, LOC129997062, LOC129997063, LOC129997064, LOC129997065, LOC129997066, LOC129997067, LOC129997068, LOC129997069, LOC129997070, LOC129997071, LOC129997072, LOC129997073, LOC129997074, LOC129997075, LOC129997076, LOC129997077, LOC129997078, LOC129997079, LOC129997080, LOC129997081, LOC129997082, LOC129997083, LOC129997084, LOC129997085, LOC129997086, LOC129997087, LOC129997088, LOC129997089, LOC129997090, LOC132089305, LOC132089306, LOC132089307, LOC132089308, LOC132089309, LOC132089310, LOC132089311, LOC132089312, LOC132089313, LOC132089314, LOC132089315, LOC132089316, LOC132089317, LOC132089318, LOC132089319, LOC132089320, LOC132089321, LOC132089322, LOC132089323, LOC132089324, LOC132089325, LOC132089326, LOC132089327, LOC132089328, LOC132089329, LOC132089330, LOC132089331, LOC132089332, LOC132090764, LOC132090765, LOC132090766, LOC285762, MAN1A1, MARCKS, MCHR2, MCHR2-AS1, MCM9, METTL24, MFSD4B, MICAL1, MIR2113, MIR3144, MIR548AI, MIR548B, MIR587, MMS22L, MROCKI, MTRES1, NDUFAF4, NR2E1, NT5DC1, NUS1, OSTM1, OSTM1-AS1, PDSS2, PLN, PNISR, PNISR-AS1, PNKY, POPDC3, POU3F2, PPIL6, PRDM1, PRDM13, PREP, QRSL1, REV3L, RFPL4B, RFX6, ROS1, RPF2, RSPH4A, RTN4IP1, RWDD1, SCML4, SEC63, SESN1, SIM1, SIM1-AS1, SLC16A10, SLC22A16, SLC35F1, SMPD2, SNORA40C, SNORD166, SNX3, SOBP, TBC1D32, TRAF3IP2, TRAF3IP2-AS1, TRAPPC3L, TSPYL1, TSPYL4, TSTD3, TUBE1, USP45, VGLL2, WASF1, ZBTB24, ZBTB24-DT, ZUP1, AFG1L, AK9, AMD1, ARMC2, ARMC2-AS1, ASCC3, ASF1A, ATG5, BEND3, BVES, BVES-AS1, C6orf183, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CCN6, CCNC, CD164, CD24, CDC40, CDK19, CEP57L1, CEP85L, COL10A1, COQ3, CRE2, CRYBG1, DCBLD1, DDO, DSE, FAM162B, FAM184A, FAM229B, FAXC, FBXL4, FHL5, FIG4, FOXO3, FRK, FYN, GJA1, GOPC, GPR6, GPR63, GPRC6A, GRIK2, GTF3C6, HACE1, HDAC2, HDAC2-AS2, HS3ST5, KLHL32, KPNA5, LAMA4, LAMA4-AS1, LIN28B, LIN28B-AS1, LINC00222, LINC02518, LINC02526, LINC02527, LINC02532, LINC02534, LINC02541, LINC02836, LINC02880, LNCPOIR, LOC100287467, LOC101927314, LOC101927919, LOC102724646, LOC105377924, LOC105377967, LOC105377975, LOC110120646, LOC110120647, LOC110120704, LOC110120705, LOC110120709, LOC110120741, LOC110120818, LOC110120970, LOC110120984, LOC110120985, LOC110120999, LOC110121032, LOC110121036, LOC110121046, LOC110121109, LOC110121145, LOC110121188, LOC110121195, LOC110121273, LOC110121301, LOC111365204, LOC113121299, LOC113121300, LOC113121301, LOC113121302, LOC113121303, LOC113121304, LOC114803478, LOC121132701, LOC121132702, LOC121132703, LOC121132704, LOC121132705, LOC121740659, LOC121740660, LOC121740661, LOC121740662, LOC121740663, LOC121740664, LOC121740665, LOC123775388, LOC123775389, LOC123775390, LOC123775391, LOC123775392, LOC123775393, LOC123775394, LOC123775395, LOC123775396, LOC123775397, LOC123775398, LOC123775399, LOC123775400, LOC123775401, LOC123775402, LOC123775403, LOC123775404, LOC123775405, LOC123833521, LOC123833522, LOC123833523, LOC123833524, LOC123833525, LOC123833526, LOC123833527, LOC123833528, LOC123833529, LOC123833530, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC123833535, LOC126859748, LOC126859749, LOC126859750, LOC126859751, LOC126859752, LOC126859753, LOC126859754, LOC126859755, LOC126859756, LOC126859757, LOC126859758, LOC126859759, LOC126859760, LOC126859761, LOC126859762, LOC126859763, LOC126859764, LOC126859765, LOC126859766, LOC126859767, LOC126859768, LOC126859769, LOC126859770, LOC126859771, LOC126859772, LOC126859773, LOC126859774, LOC126859775, LOC127407129, LOC128559983, LOC128667231, LOC129389586, LOC129389587, LOC129389588, LOC129389589, LOC129389590 | | See cases | Pathogenic (Aug 2, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr6:100502765-120809300
- GRCh38:
- Chr6:100054889-120488154
| LOC129997076, LOC129997077, LOC129997078, LOC129997079, LOC129997080, LOC129997081, LOC129997082, LOC129997083, LOC129997084, LOC129997085, LOC129997086, LOC129997087, LOC129997088, LOC132089305, LOC132089306, LOC132089307, LOC132089308, LOC132089309, LOC132089310, LOC132089311, LOC132089312, LOC132089313, LOC132089314, LOC132089315, LOC132089316, LOC132089317, LOC132089318, LOC132089319, LOC132089320, LOC132089321, LOC285762, MAN1A1, MARCKS, MCHR2-AS1, MCM9, METTL24, MFSD4B, MICAL1, MIR3144, MIR548B, MIR587, MROCKI, MTRES1, NR2E1, NT5DC1, NUS1, OSTM1, OSTM1-AS1, PDSS2, PLN, POPDC3, PPIL6, PRDM1, PREP, QRSL1, REV3L, RFPL4B, RFX6, ROS1, RPF2, RSPH4A, RTN4IP1, RWDD1, SCML4, SEC63, SESN1, SIM1, SIM1-AS1, SLC16A10, SLC22A16, SLC35F1, SMPD2, SNORA40C, SNORD166, SNX3, SOBP, TRAF3IP2, TRAF3IP2-AS1, TRAPPC3L, TSPYL1, TSPYL4, TUBE1, VGLL2, WASF1, ZBTB24, ZBTB24-DT, ZUP1, AFG1L, AK9, AMD1, ARMC2, ARMC2-AS1, ASCC3, ASF1A, ATG5, BEND3, BVES, BVES-AS1, C6orf183, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CCN6, CD164, CD24, CDC40, CDK19, CEP57L1, CEP85L, COL10A1, CRYBG1, DCBLD1, DDO, DSE, FAM162B, FAM184A, FAM229B, FIG4, FOXO3, FRK, FYN, GOPC, GPR6, GPRC6A, GRIK2, GTF3C6, HACE1, HDAC2, HDAC2-AS2, HS3ST5, KPNA5, LAMA4, LAMA4-AS1, LIN28B, LIN28B-AS1, LINC00222, LINC02518, LINC02526, LINC02527, LINC02532, LINC02534, LINC02541, LINC02836, LINC02880, LNCPOIR, LOC100287467, LOC101927919, LOC102724646, LOC105377924, LOC105377967, LOC105377975, LOC110120709, LOC110121046, LOC110121109, LOC110121188, LOC110121195, LOC110121273, LOC110121301, LOC113121299, LOC113121300, LOC113121301, LOC113121302, LOC113121303, LOC113121304, LOC114803478, LOC121132701, LOC121132702, LOC121132703, LOC121132704, LOC121740660, LOC121740661, LOC121740662, LOC121740663, LOC121740664, LOC121740665, LOC123775391, LOC123775392, LOC123775393, LOC123775394, LOC123775395, LOC123775396, LOC123775397, LOC123775398, LOC123775399, LOC123775400, LOC123775401, LOC123775402, LOC123775403, LOC123775404, LOC123775405, LOC123833521, LOC123833522, LOC123833523, LOC123833524, LOC123833525, LOC123833526, LOC123833527, LOC123833528, LOC123833529, LOC123833530, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC126859749, LOC126859750, LOC126859751, LOC126859752, LOC126859753, LOC126859754, LOC126859755, LOC126859756, LOC126859757, LOC126859758, LOC126859759, LOC126859760, LOC126859761, LOC126859762, LOC126859763, LOC126859764, LOC126859765, LOC126859766, LOC126859767, LOC126859768, LOC126859769, LOC126859770, LOC126859771, LOC126859772, LOC126859773, LOC127407129, LOC128559983, LOC128667231, LOC129389592, LOC129389593, LOC129389594, LOC129389595, LOC129389596, LOC129389597, LOC129389598, LOC129389599, LOC129389600, LOC129389601, LOC129389602, LOC129389603, LOC129389604, LOC129389605, LOC129389606, LOC129389607, LOC129389608, LOC129389609, LOC129389610, LOC129389611, LOC129389612, LOC129389613, LOC129389614, LOC129389615, LOC129389616, LOC129389617, LOC129389618, LOC129389619, LOC129389620, LOC129389621, LOC129389622, LOC129389623, LOC129389624, LOC129389625, LOC129389626, LOC129389627, LOC129996883, LOC129996884, LOC129996885, LOC129996886, LOC129996887, LOC129996888, LOC129996889, LOC129996890, LOC129996891, LOC129996892, LOC129996893, LOC129996894, LOC129996895, LOC129996896, LOC129996897, LOC129996898, LOC129996899, LOC129996900, LOC129996901, LOC129996902, LOC129996903, LOC129996904, LOC129996905, LOC129996906, LOC129996907, LOC129996908, LOC129996909, LOC129996910, LOC129996911, LOC129996912, LOC129996913, LOC129996914, LOC129996915, LOC129996916, LOC129996917, LOC129996918, LOC129996919, LOC129996920, LOC129996921, LOC129996922, LOC129996923, LOC129996924, LOC129996925, LOC129996926, LOC129996927, LOC129996928, LOC129996929, LOC129996930, LOC129996931, LOC129996932, LOC129996933, LOC129996934, LOC129996935, LOC129996936, LOC129996937, LOC129996938, LOC129996939, LOC129996940, LOC129996941, LOC129996942, LOC129996943, LOC129996944, LOC129996945, LOC129996946, LOC129996947, LOC129996948, LOC129996949, LOC129996950, LOC129996951, LOC129996952, LOC129996953, LOC129996954, LOC129996955, LOC129996956, LOC129996957, LOC129996958, LOC129996959, LOC129996960, LOC129996961, LOC129996962, LOC129996963, LOC129996964, LOC129996965, LOC129996966, LOC129996967, LOC129996968, LOC129996969, LOC129996970, LOC129996971, LOC129996972, LOC129996973, LOC129996974, LOC129996975, LOC129996976, LOC129996977, LOC129996978, LOC129996979, LOC129996980, LOC129996981, LOC129996982, LOC129996983, LOC129996984, LOC129996985, LOC129996986, LOC129996987, LOC129996988, LOC129996989, LOC129996990, LOC129996991, LOC129996992, LOC129996993, LOC129996994, LOC129996995, LOC129996996, LOC129996997, LOC129996998, LOC129996999, LOC129997000, LOC129997001, LOC129997002, LOC129997003, LOC129997004, LOC129997005, LOC129997006, LOC129997007, LOC129997008, LOC129997009, LOC129997010, LOC129997011, LOC129997012, LOC129997013, LOC129997014, LOC129997015, LOC129997016, LOC129997017, LOC129997018, LOC129997019, LOC129997020, LOC129997021, LOC129997022, LOC129997023, LOC129997024, LOC129997025, LOC129997026, LOC129997027, LOC129997028, LOC129997029, LOC129997030, LOC129997031, LOC129997032, LOC129997033, LOC129997034, LOC129997035, LOC129997036, LOC129997037, LOC129997038, LOC129997039, LOC129997040, LOC129997041, LOC129997042, LOC129997043, LOC129997044, LOC129997045, LOC129997046, LOC129997047, LOC129997048, LOC129997049, LOC129997050, LOC129997051, LOC129997052, LOC129997053, LOC129997054, LOC129997055, LOC129997056, LOC129997057, LOC129997058, LOC129997059, LOC129997060, LOC129997061, LOC129997062, LOC129997063, LOC129997064, LOC129997065, LOC129997066, LOC129997067, LOC129997068, LOC129997069, LOC129997070, LOC129997071, LOC129997072, LOC129997073, LOC129997074, LOC129997075 | | See cases | Pathogenic (Mar 4, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr6:106951594-126102365
- GRCh38:
- Chr6:106503719-125781219
| AFG1L, AK9, AMD1, ARMC2, ARMC2-AS1, ASF1A, BEND3, C6orf183, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CCN6, CD164, CD24, CDC40, CDK19, CEP57L1, CEP85L, CLVS2, COL10A1, CRYBG1, DCBLD1, DDO, DSE, FABP7, FAM162B, FAM184A, FAM229B, FIG4, FOXO3, FRK, FYN, GJA1, GOPC, GPR6, GPRC6A, GTF3C6, HDAC2, HDAC2-AS2, HDDC2, HEY2, HEY2-AS1, HS3ST5, HSF2, KPNA5, LAMA4, LAMA4-AS1, LINC00222, LINC02518, LINC02523, LINC02526, LINC02527, LINC02532, LINC02534, LINC02541, LINC02880, LNCPOIR, LOC100126584, LOC100287467, LOC101927919, LOC102723341, LOC102724646, LOC105377967, LOC105377975, LOC110121046, LOC110121188, LOC110121273, LOC113121302, LOC113121303, LOC113121304, LOC114803478, LOC116183067, LOC116183068, LOC121132704, LOC121132705, LOC121740661, LOC121740662, LOC121740663, LOC121740664, LOC121740665, LOC123775393, LOC123775394, LOC123775395, LOC123775396, LOC123775397, LOC123775398, LOC123775399, LOC123775400, LOC123775401, LOC123775402, LOC123775403, LOC123775404, LOC123775405, LOC123833521, LOC123833522, LOC123833523, LOC123833524, LOC123833525, LOC123833526, LOC123833527, LOC123833528, LOC123833529, LOC123833530, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC123833535, LOC123833536, LOC123833537, LOC123864060, LOC123864061, LOC126859757, LOC126859758, LOC126859759, LOC126859760, LOC126859761, LOC126859762, LOC126859763, LOC126859764, LOC126859765, LOC126859766, LOC126859767, LOC126859768, LOC126859769, LOC126859770, LOC126859771, LOC126859772, LOC126859773, LOC126859774, LOC126859775, LOC126859776, LOC126859777, LOC126859778, LOC127407129, LOC128559983, LOC128667231, LOC129389600, LOC129389601, LOC129389602, LOC129389603, LOC129389604, LOC129389605, LOC129389606, LOC129389607, LOC129389608, LOC129389609, LOC129389610, LOC129389611, LOC129389612, LOC129389613, LOC129389614, LOC129389615, LOC129389616, LOC129389617, LOC129389618, LOC129389619, LOC129389620, LOC129389621, LOC129389622, LOC129389623, LOC129389624, LOC129389625, LOC129389626, LOC129389627, LOC129389628, LOC129389629, LOC129389630, LOC129389631, LOC129389632, LOC129389633, LOC129389634, LOC129389635, LOC129389636, LOC129389637, LOC129389638, LOC129389639, LOC129389640, LOC129389641, LOC129389642, LOC129389643, LOC129996906, LOC129996907, LOC129996908, LOC129996909, LOC129996910, LOC129996911, LOC129996912, LOC129996913, LOC129996914, LOC129996915, LOC129996916, LOC129996917, LOC129996918, LOC129996919, LOC129996920, LOC129996921, LOC129996922, LOC129996923, LOC129996924, LOC129996925, LOC129996926, LOC129996927, LOC129996928, LOC129996929, LOC129996930, LOC129996931, LOC129996932, LOC129996933, LOC129996934, LOC129996935, LOC129996936, LOC129996937, LOC129996938, LOC129996939, LOC129996940, LOC129996941, LOC129996942, LOC129996943, LOC129996944, LOC129996945, LOC129996946, LOC129996947, LOC129996948, LOC129996949, LOC129996950, LOC129996951, LOC129996952, LOC129996953, LOC129996954, LOC129996955, LOC129996956, LOC129996957, LOC129996958, LOC129996959, LOC129996960, LOC129996961, LOC129996962, LOC129996963, LOC129996964, LOC129996965, LOC129996966, LOC129996967, LOC129996968, LOC129996969, LOC129996970, LOC129996971, LOC129996972, LOC129996973, LOC129996974, LOC129996975, LOC129996976, LOC129996977, LOC129996978, LOC129996979, LOC129996980, LOC129996981, LOC129996982, LOC129996983, LOC129996984, LOC129996985, LOC129996986, LOC129996987, LOC129996988, LOC129996989, LOC129996990, LOC129996991, LOC129996992, LOC129996993, LOC129996994, LOC129996995, LOC129996996, LOC129996997, LOC129996998, LOC129996999, LOC129997000, LOC129997001, LOC129997002, LOC129997003, LOC129997004, LOC129997005, LOC129997006, LOC129997007, LOC129997008, LOC129997009, LOC129997010, LOC129997011, LOC129997012, LOC129997013, LOC129997014, LOC129997015, LOC129997016, LOC129997017, LOC129997018, LOC129997019, LOC129997020, LOC129997021, LOC129997022, LOC129997023, LOC129997024, LOC129997025, LOC129997026, LOC129997027, LOC129997028, LOC129997029, LOC129997030, LOC129997031, LOC129997032, LOC129997033, LOC129997034, LOC129997035, LOC129997036, LOC129997037, LOC129997038, LOC129997039, LOC129997040, LOC129997041, LOC129997042, LOC129997043, LOC129997044, LOC129997045, LOC129997046, LOC129997047, LOC129997048, LOC129997049, LOC129997050, LOC129997051, LOC129997052, LOC129997053, LOC129997054, LOC129997055, LOC129997056, LOC129997057, LOC129997058, LOC129997059, LOC129997060, LOC129997061, LOC129997062, LOC129997063, LOC129997064, LOC129997065, LOC129997066, LOC129997067, LOC129997068, LOC129997069, LOC129997070, LOC129997071, LOC129997072, LOC129997073, LOC129997074, LOC129997075, LOC129997076, LOC129997077, LOC129997078, LOC129997079, LOC129997080, LOC129997081, LOC129997082, LOC129997083, LOC129997084, LOC129997085, LOC129997086, LOC129997087, LOC129997088, LOC129997089, LOC129997090, LOC129997091, LOC129997092, LOC129997093, LOC129997094, LOC129997095, LOC129997096, LOC129997097, LOC129997098, LOC129997099, LOC129997100, LOC129997101, LOC129997102, LOC129997103, LOC129997104, LOC129997105, LOC129997106, LOC132089309, LOC132089310, LOC132089311, LOC132089312, LOC132089313, LOC132089314, LOC132089315, LOC132089316, LOC132089317, LOC132089318, LOC132089319, LOC132089320, LOC132089321, LOC132089322, LOC132089323, LOC132089324, LOC132089325, LOC132089326, LOC132089327, LOC132089328, LOC132089329, LOC132089330, LOC132089331, LOC132089332, LOC132090764, LOC132090765, LOC132090766, LOC132090767, LOC285762, MAN1A1, MARCKS, MCM9, METTL24, MFSD4B, MICAL1, MIR3144, MIR548B, MIR587, MROCKI, MTRES1, NCOA7, NKAIN2, NR2E1, NT5DC1, NUS1, OSTM1, OSTM1-AS1, PDSS2, PKIB, PLN, PPIL6, QRSL1, REV3L, RFPL4B, RFX6, RNF217, RNF217-AS1, ROS1, RPF2, RSPH4A, RTN4IP1, RWDD1, SCML4, SEC63, SERINC1, SESN1, SLC16A10, SLC22A16, SLC35F1, SMPD2, SMPDL3A, SNORA40C, SNORD166, SNX3, SOBP, TBC1D32, TPD52L1, TRAF3IP2, TRAF3IP2-AS1, TRAPPC3L, TRDN, TRDN-AS1, TRE-CTC1-7, TSPYL1, TSPYL4, TUBE1, VGLL2, WASF1, ZBTB24, ZBTB24-DT, ZUP1 | | See cases | Pathogenic (Oct 1, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr6:109266102-132388860
- GRCh38:
- Chr6:108944899-132067720
| AK9, AKAP7, AMD1, ARG1, ARHGAP18, ARMC2, ASF1A, C6orf183, C6orf58, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CCN2, CCN2-AS1, CCN6, CD164, CDC40, CDK19, CENPW, CEP57L1, CEP85L, CLVS2, COL10A1, CTAGE9, DCBLD1, DDO, DSE, ECHDC1, ENPP1, ENPP3, EPB41L2, FABP7, FAM162B, FAM184A, FAM229B, FIG4, FRK, FYN, GJA1, GOPC, GPR6, GPRC6A, GTF3C6, HDAC2, HDAC2-AS2, HDDC2, HEY2, HEY2-AS1, HINT3, HS3ST5, HSF2, KIAA0408, KPNA5, L3MBTL3, LAMA2, LAMA4, LAMA4-AS1, LINC02518, LINC02523, LINC02527, LINC02534, LINC02541, LINC02880, LNCPOIR, LOC100126584, LOC100287467, LOC101927919, LOC102723341, LOC102724646, LOC105377967, LOC105377975, LOC108228196, LOC110121046, LOC110121188, LOC110121273, LOC111365199, LOC113121303, LOC113121304, LOC113146409, LOC113146413, LOC114803478, LOC116183067, LOC116183068, LOC121132704, LOC121132705, LOC121132706, LOC121132707, LOC121740662, LOC121740663, LOC121740664, LOC121740665, LOC121740666, LOC123775401, LOC123775402, LOC123775403, LOC123775404, LOC123775405, LOC123833521, LOC123833522, LOC123833523, LOC123833524, LOC123833525, LOC123833526, LOC123833527, LOC123833528, LOC123833529, LOC123833530, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC123833535, LOC123833536, LOC123833537, LOC123864060, LOC123864061, LOC123864062, LOC123864063, LOC123864064, LOC123864065, LOC123864066, LOC123864067, LOC123864068, LOC123864069, LOC123864070, LOC126859761, LOC126859762, LOC126859763, LOC126859764, LOC126859765, LOC126859766, LOC126859767, LOC126859768, LOC126859769, LOC126859770, LOC126859771, LOC126859772, LOC126859773, LOC126859774, LOC126859775, LOC126859776, LOC126859777, LOC126859778, LOC126859779, LOC126859780, LOC126859781, LOC126859782, LOC126859783, LOC126859784, LOC126859785, LOC126859786, LOC126859787, LOC126859788, LOC126859789, LOC127407129, LOC128559983, LOC128667231, LOC129389607, LOC129389608, LOC129389609, LOC129389610, LOC129389611, LOC129389612, LOC129389613, LOC129389614, LOC129389615, LOC129389616, LOC129389617, LOC129389618, LOC129389619, LOC129389620, LOC129389621, LOC129389622, LOC129389623, LOC129389624, LOC129389625, LOC129389626, LOC129389627, LOC129389628, LOC129389629, LOC129389630, LOC129389631, LOC129389632, LOC129389633, LOC129389634, LOC129389635, LOC129389636, LOC129389637, LOC129389638, LOC129389639, LOC129389640, LOC129389641, LOC129389642, LOC129389643, LOC129389644, LOC129389645, LOC129389646, LOC129389647, LOC129996951, LOC129996952, LOC129996953, LOC129996954, LOC129996955, LOC129996956, LOC129996957, LOC129996958, LOC129996959, LOC129996960, LOC129996961, LOC129996962, LOC129996963, LOC129996964, LOC129996965, LOC129996966, LOC129996967, LOC129996968, LOC129996969, LOC129996970, LOC129996971, LOC129996972, LOC129996973, LOC129996974, LOC129996975, LOC129996976, LOC129996977, LOC129996978, LOC129996979, LOC129996980, LOC129996981, LOC129996982, LOC129996983, LOC129996984, LOC129996985, LOC129996986, LOC129996987, LOC129996988, LOC129996989, LOC129996990, LOC129996991, LOC129996992, LOC129996993, LOC129996994, LOC129996995, LOC129996996, LOC129996997, LOC129996998, LOC129996999, LOC129997000, LOC129997001, LOC129997002, LOC129997003, LOC129997004, LOC129997005, LOC129997006, LOC129997007, LOC129997008, LOC129997009, LOC129997010, LOC129997011, LOC129997012, LOC129997013, LOC129997014, LOC129997015, LOC129997016, LOC129997017, LOC129997018, LOC129997019, LOC129997020, LOC129997021, LOC129997022, LOC129997023, LOC129997024, LOC129997025, LOC129997026, LOC129997027, LOC129997028, LOC129997029, LOC129997030, LOC129997031, LOC129997032, LOC129997033, LOC129997034, LOC129997035, LOC129997036, LOC129997037, LOC129997038, LOC129997039, LOC129997040, LOC129997041, LOC129997042, LOC129997043, LOC129997044, LOC129997045, LOC129997046, LOC129997047, LOC129997048, LOC129997049, LOC129997050, LOC129997051, LOC129997052, LOC129997053, LOC129997054, LOC129997055, LOC129997056, LOC129997057, LOC129997058, LOC129997059, LOC129997060, LOC129997061, LOC129997062, LOC129997063, LOC129997064, LOC129997065, LOC129997066, LOC129997067, LOC129997068, LOC129997069, LOC129997070, LOC129997071, LOC129997072, LOC129997073, LOC129997074, LOC129997075, LOC129997076, LOC129997077, LOC129997078, LOC129997079, LOC129997080, LOC129997081, LOC129997082, LOC129997083, LOC129997084, LOC129997085, LOC129997086, LOC129997087, LOC129997088, LOC129997089, LOC129997090, LOC129997091, LOC129997092, LOC129997093, LOC129997094, LOC129997095, LOC129997096, LOC129997097, LOC129997098, LOC129997099, LOC129997100, LOC129997101, LOC129997102, LOC129997103, LOC129997104, LOC129997105, LOC129997106, LOC129997107, LOC129997108, LOC129997109, LOC129997110, LOC129997111, LOC129997112, LOC129997113, LOC129997114, LOC129997115, LOC129997116, LOC129997117, LOC129997118, LOC129997119, LOC129997120, LOC129997121, LOC129997122, LOC129997123, LOC129997124, LOC129997125, LOC129997126, LOC129997127, LOC129997128, LOC129997129, LOC129997130, LOC129997131, LOC129997132, LOC129997133, LOC129997134, LOC129997135, LOC129997136, LOC129997137, LOC129997138, LOC129997139, LOC129997140, LOC129997141, LOC129997142, LOC129997143, LOC129997144, LOC129997145, LOC129997146, LOC129997147, LOC129997148, LOC129997149, LOC129997150, LOC129997151, LOC129997152, LOC129997153, LOC129997154, LOC129997155, LOC129997156, LOC129997157, LOC129997158, LOC129997159, LOC129997160, LOC129997161, LOC129997162, LOC129997163, LOC129997164, LOC129997165, LOC129997166, LOC129997167, LOC132089309, LOC132089310, LOC132089311, LOC132089312, LOC132089313, LOC132089314, LOC132089315, LOC132089316, LOC132089317, LOC132089318, LOC132089319, LOC132089320, LOC132089321, LOC132089322, LOC132089323, LOC132089324, LOC132089325, LOC132089326, LOC132089327, LOC132089328, LOC132089329, LOC132089330, LOC132089331, LOC132089332, LOC132089333, LOC132089334, LOC132089335, LOC132089336, LOC132089337, LOC132089338, LOC132089339, LOC132089340, LOC132090764, LOC132090765, LOC132090766, LOC132090767, LOC132090768, LOC285762, MAN1A1, MARCKS, MCM9, MED23, METTL24, MFSD4B, MICAL1, MIR3144, MIR548B, MIR548H5, MIR588, MROCKI, MTCL3, NCOA7, NCOA7-AS1, NKAIN2, NT5DC1, NUS1, OR2A4, PKIB, PLN, PPIL6, PTPRK, PTPRK-AS1, REV3L, RFPL4B, RFX6, RNF146, RNF217, RNF217-AS1, ROS1, RPF2, RSPH4A, RSPO3, RWDD1, SAMD3, SERINC1, SESN1, SLC16A10, SLC22A16, SLC35F1, SMLR1, SMPD2, SMPDL3A, SNORA40C, SNORD166, SOGA3-KIAA0408, TBC1D32, THEMIS, TMEM200A, TMEM244, TPD52L1, TRAF3IP2, TRAF3IP2-AS1, TRAPPC3L, TRDN, TRDN-AS1, TRE-CTC1-7, TRMT11, TSPYL1, TSPYL4, TUBE1, VGLL2, WASF1, ZBTB24, ZBTB24-DT, ZUP1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh38:
- Chr6:113857248-130442177
| ARHGAP18, ASF1A, C6orf58, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CENPW, CEP85L, CLVS2, COL10A1, DCBLD1, DSE, ECHDC1, FABP7, FAM162B, FAM184A, FRK, GJA1, GOPC, GPRC6A, HDAC2, HDAC2-AS2, HDDC2, HEY2, HEY2-AS1, HINT3, HS3ST5, HSF2, KIAA0408, KPNA5, L3MBTL3, LAMA2, LINC02523, LINC02534, LINC02880, LNCPOIR, LOC100126584, LOC100287467, LOC101927919, LOC102723341, LOC105377967, LOC105377975, LOC108228196, LOC110121273, LOC113146409, LOC113146413, LOC116183067, LOC116183068, LOC121132704, LOC121132705, LOC121132706, LOC121740665, LOC123833526, LOC123833527, LOC123833528, LOC123833529, LOC123833530, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC123833535, LOC123833536, LOC123833537, LOC123864060, LOC123864061, LOC123864062, LOC123864063, LOC123864064, LOC123864065, LOC123864066, LOC126859768, LOC126859769, LOC126859770, LOC126859771, LOC126859772, LOC126859773, LOC126859774, LOC126859775, LOC126859776, LOC126859777, LOC126859778, LOC126859779, LOC126859780, LOC126859781, LOC126859782, LOC126859783, LOC126859784, LOC127407129, LOC128667231, LOC129389621, LOC129389622, LOC129389623, LOC129389624, LOC129389625, LOC129389626, LOC129389627, LOC129389628, LOC129389629, LOC129389630, LOC129389631, LOC129389632, LOC129389633, LOC129389634, LOC129389635, LOC129389636, LOC129389637, LOC129389638, LOC129389639, LOC129389640, LOC129389641, LOC129389642, LOC129389643, LOC129389644, LOC129389645, LOC129389646, LOC129997024, LOC129997025, LOC129997026, LOC129997027, LOC129997028, LOC129997029, LOC129997030, LOC129997031, LOC129997032, LOC129997033, LOC129997034, LOC129997035, LOC129997036, LOC129997037, LOC129997038, LOC129997039, LOC129997040, LOC129997041, LOC129997042, LOC129997043, LOC129997044, LOC129997045, LOC129997046, LOC129997047, LOC129997048, LOC129997049, LOC129997050, LOC129997051, LOC129997052, LOC129997053, LOC129997054, LOC129997055, LOC129997056, LOC129997057, LOC129997058, LOC129997059, LOC129997060, LOC129997061, LOC129997062, LOC129997063, LOC129997064, LOC129997065, LOC129997066, LOC129997067, LOC129997068, LOC129997069, LOC129997070, LOC129997071, LOC129997072, LOC129997073, LOC129997074, LOC129997075, LOC129997076, LOC129997077, LOC129997078, LOC129997079, LOC129997080, LOC129997081, LOC129997082, LOC129997083, LOC129997084, LOC129997085, LOC129997086, LOC129997087, LOC129997088, LOC129997089, LOC129997090, LOC129997091, LOC129997092, LOC129997093, LOC129997094, LOC129997095, LOC129997096, LOC129997097, LOC129997098, LOC129997099, LOC129997100, LOC129997101, LOC129997102, LOC129997103, LOC129997104, LOC129997105, LOC129997106, LOC129997107, LOC129997108, LOC129997109, LOC129997110, LOC129997111, LOC129997112, LOC129997113, LOC129997114, LOC129997115, LOC129997116, LOC129997117, LOC129997118, LOC129997119, LOC129997120, LOC129997121, LOC129997122, LOC129997123, LOC129997124, LOC129997125, LOC129997126, LOC129997127, LOC129997128, LOC129997129, LOC129997130, LOC129997131, LOC129997132, LOC129997133, LOC129997134, LOC129997135, LOC129997136, LOC129997137, LOC129997138, LOC129997139, LOC129997140, LOC129997141, LOC129997142, LOC129997143, LOC129997144, LOC129997145, LOC129997146, LOC129997147, LOC129997148, LOC129997149, LOC129997150, LOC129997151, LOC129997152, LOC132089311, LOC132089312, LOC132089313, LOC132089314, LOC132089315, LOC132089316, LOC132089317, LOC132089318, LOC132089319, LOC132089320, LOC132089321, LOC132089322, LOC132089323, LOC132089324, LOC132089325, LOC132089326, LOC132089327, LOC132089328, LOC132089329, LOC132089330, LOC132089331, LOC132089332, LOC132089333, LOC132090764, LOC132090765, LOC132090766, LOC132090767, LOC285762, MAN1A1, MARCKS, MCM9, MIR3144, MIR548B, MIR588, MROCKI, MTCL3, NCOA7, NCOA7-AS1, NKAIN2, NT5DC1, NUS1, PKIB, PLN, PTPRK, PTPRK-AS1, RFX6, RNF146, RNF217, RNF217-AS1, ROS1, RSPH4A, RSPO3, RWDD1, SAMD3, SERINC1, SLC35F1, SMPDL3A, SOGA3-KIAA0408, TBC1D32, THEMIS, TMEM200A, TMEM244, TPD52L1, TRAPPC3L, TRDN, TRDN-AS1, TRE-CTC1-7, TRMT11, TSPYL1, TSPYL4, VGLL2, ZUP1 | | Intellectual disability, autosomal dominant 55, with seizures | Pathogenic (Aug 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:115922394-128835469
- GRCh38:
- Chr6:115601230-128514324
| LOC129389639, LOC129389640, LOC129389641, LOC129389642, LOC129389643, LOC129389644, LOC129997027, LOC129997028, LOC129997029, LOC129997030, LOC129997031, LOC129997032, LOC129997033, LOC129997034, LOC129997035, LOC129997036, LOC129997037, LOC129997038, LOC129997039, LOC129997040, LOC129997041, LOC129997042, LOC129997043, LOC129997044, LOC129997045, LOC129997046, LOC129997047, LOC129997048, LOC129997049, LOC129997050, LOC129997051, LOC129997052, LOC129997053, LOC129997054, LOC129997055, LOC129997056, LOC129997057, LOC129997058, LOC129997059, LOC129997060, LOC129997061, LOC129997062, LOC129997063, LOC129997064, LOC129997065, LOC129997066, LOC129997067, LOC129997068, LOC129997069, LOC129997070, LOC129997071, LOC129997072, LOC129997073, LOC129997074, LOC129997075, LOC129997076, LOC129997077, LOC129997078, LOC129997079, LOC129997080, LOC129997081, LOC129997082, LOC129997083, LOC129997084, LOC129997085, LOC129997086, LOC129997087, LOC129997088, LOC129997089, LOC129997090, LOC129997091, LOC129997092, LOC129997093, LOC129997094, LOC129997095, LOC129997096, LOC129997097, LOC129997098, LOC129997099, LOC129997100, LOC129997101, LOC129997102, LOC129997103, LOC129997104, LOC129997105, LOC129997106, LOC129997107, LOC129997108, LOC129997109, LOC129997110, LOC129997111, LOC129997112, LOC129997113, LOC129997114, LOC129997115, LOC129997116, LOC129997117, LOC129997118, LOC129997119, LOC129997120, LOC129997121, LOC129997122, LOC129997123, LOC129997124, LOC129997125, LOC132089314, LOC132089315, LOC132089316, LOC132089317, LOC132089318, LOC132089319, LOC132089320, LOC132089321, LOC132089322, LOC132089323, LOC132089324, LOC132089325, LOC132089326, LOC132089327, LOC132089328, LOC132089329, LOC132089330, LOC132089331, LOC132089332, LOC132090764, LOC132090765, LOC132090766, LOC132090767, LOC285762, MAN1A1, MCM9, MIR3144, MIR548B, MIR588, MTCL3, NCOA7, NCOA7-AS1, NKAIN2, NT5DC1, NUS1, PKIB, PLN, PTPRK, PTPRK-AS1, RFX6, RNF146, RNF217, RNF217-AS1, ROS1, RSPH4A, RSPO3, RWDD1, SERINC1, SLC35F1, SMPDL3A, SOGA3-KIAA0408, TBC1D32, THEMIS, TPD52L1, TRAPPC3L, TRDN, TRDN-AS1, TRE-CTC1-7, TRMT11, TSPYL1, TSPYL4, VGLL2, ZUP1, ASF1A, C6orf58, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CENPW, CEP85L, CLVS2, COL10A1, DCBLD1, DSE, ECHDC1, FABP7, FAM162B, FAM184A, FRK, GJA1, GOPC, GPRC6A, HDDC2, HEY2, HEY2-AS1, HINT3, HSF2, KIAA0408, KPNA5, LINC02523, LINC02534, LOC100126584, LOC100287467, LOC101927919, LOC102723341, LOC105377967, LOC105377975, LOC108228196, LOC110121273, LOC113146409, LOC116183067, LOC116183068, LOC121132704, LOC121132705, LOC121740665, LOC123833528, LOC123833529, LOC123833530, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC123833535, LOC123833536, LOC123833537, LOC123864060, LOC123864061, LOC123864062, LOC123864063, LOC123864064, LOC126859771, LOC126859772, LOC126859773, LOC126859774, LOC126859775, LOC126859776, LOC126859777, LOC126859778, LOC126859779, LOC126859780, LOC127407129, LOC128667231, LOC129389621, LOC129389622, LOC129389623, LOC129389624, LOC129389625, LOC129389626, LOC129389627, LOC129389628, LOC129389629, LOC129389630, LOC129389631, LOC129389632, LOC129389633, LOC129389634, LOC129389635, LOC129389636, LOC129389637, LOC129389638 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh38:
- Chr6:115941808-133892653
| HINT3, HSF2, KIAA0408, KPNA5, L3MBTL3, LAMA2, ARG1, AKAP7, ARHGAP18, ASF1A, C6orf58, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CCN2, CCN2-AS1, CENPW, CEP85L, CLVS2, COL10A1, CTAGE9, DCBLD1, DSE, ECHDC1, ENPP1, ENPP3, EPB41L2, EYA4, FABP7, FAM162B, FAM184A, FRK, GJA1, GOPC, GPRC6A, HDDC2, HEY2, HEY2-AS1, LINC00326, LINC01013, LINC01312, LINC02523, LOC100126584, LOC100287467, LOC101927919, LOC102723341, LOC105377967, LOC105377975, LOC108228196, LOC110121273, LOC111365199, LOC111413038, LOC113146409, LOC113146413, LOC116183067, LOC116183068, LOC121132704, LOC121132705, LOC121132706, LOC121132707, LOC121740665, LOC121740666, LOC123833528, LOC123833529, LOC123833530, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC123833535, LOC123833536, LOC123833537, LOC123864060, LOC123864061, LOC123864062, LOC123864063, LOC123864064, LOC123864065, LOC123864066, LOC123864067, LOC123864068, LOC123864069, LOC123864070, LOC123864071, LOC126859771, LOC126859772, LOC126859773, LOC126859774, LOC126859775, LOC126859776, LOC126859777, LOC126859778, LOC126859779, LOC126859780, LOC126859781, LOC126859782, LOC126859783, LOC126859784, LOC126859785, LOC126859786, LOC126859787, LOC126859788, LOC126859789, LOC126859790, LOC126859791, LOC126859792, LOC126859793, LOC126859794, LOC126859795, LOC126859796, LOC127407129, LOC128667231, LOC129389621, LOC129389622, LOC129389623, LOC129389624, LOC129389625, LOC129389626, LOC129389627, LOC129389628, LOC129389629, LOC129389630, LOC129389631, LOC129389632, LOC129389633, LOC129389634, LOC129389635, LOC129389636, LOC129389637, LOC129389638, LOC129389639, LOC129389640, LOC129389641, LOC129389642, LOC129389643, LOC129389644, LOC129389645, LOC129389646, LOC129389647, LOC129389648, LOC129997027, LOC129997028, LOC129997029, LOC129997030, LOC129997031, LOC129997032, LOC129997033, LOC129997034, LOC129997035, LOC129997036, LOC129997037, LOC129997038, LOC129997039, LOC129997040, LOC129997041, LOC129997042, LOC129997043, LOC129997044, LOC129997045, LOC129997046, LOC129997047, LOC129997048, LOC129997049, LOC129997050, LOC129997051, LOC129997052, LOC129997053, LOC129997054, LOC129997055, LOC129997056, LOC129997057, LOC129997058, LOC129997059, LOC129997060, LOC129997061, LOC129997062, LOC129997063, LOC129997064, LOC129997065, LOC129997066, LOC129997067, LOC129997068, LOC129997069, LOC129997070, LOC129997071, LOC129997072, LOC129997073, LOC129997074, LOC129997075, LOC129997076, LOC129997077, LOC129997078, LOC129997079, LOC129997080, LOC129997081, LOC129997082, LOC129997083, LOC129997084, LOC129997085, LOC129997086, LOC129997087, LOC129997088, LOC129997089, LOC129997090, LOC129997091, LOC129997092, LOC129997093, LOC129997094, LOC129997095, LOC129997096, LOC129997097, LOC129997098, LOC129997099, LOC129997100, LOC129997101, LOC129997102, LOC129997103, LOC129997104, LOC129997105, LOC129997106, LOC129997107, LOC129997108, LOC129997109, LOC129997110, LOC129997111, LOC129997112, LOC129997113, LOC129997114, LOC129997115, LOC129997116, LOC129997117, LOC129997118, LOC129997119, LOC129997120, LOC129997121, LOC129997122, LOC129997123, LOC129997124, LOC129997125, LOC129997126, LOC129997127, LOC129997128, LOC129997129, LOC129997130, LOC129997131, LOC129997132, LOC129997133, LOC129997134, LOC129997135, LOC129997136, LOC129997137, LOC129997138, LOC129997139, LOC129997140, LOC129997141, LOC129997142, LOC129997143, LOC129997144, LOC129997145, LOC129997146, LOC129997147, LOC129997148, LOC129997149, LOC129997150, LOC129997151, LOC129997152, LOC129997153, LOC129997154, LOC129997155, LOC129997156, LOC129997157, LOC129997158, LOC129997159, LOC129997160, LOC129997161, LOC129997162, LOC129997163, LOC129997164, LOC129997165, LOC129997166, LOC129997167, LOC129997168, LOC129997169, LOC129997170, LOC129997171, LOC129997172, LOC129997173, LOC129997174, LOC129997175, LOC129997176, LOC129997177, LOC129997178, LOC129997179, LOC129997180, LOC129997181, LOC129997182, LOC129997183, LOC129997184, LOC129997185, LOC132089314, LOC132089315, LOC132089316, LOC132089317, LOC132089318, LOC132089319, LOC132089320, LOC132089321, LOC132089322, LOC132089323, LOC132089324, LOC132089325, LOC132089326, LOC132089327, LOC132089328, LOC132089329, LOC132089330, LOC132089331, LOC132089332, LOC132089333, LOC132089334, LOC132089335, LOC132089336, LOC132089337, LOC132089338, LOC132089339, LOC132089340, LOC132089341, LOC132089342, LOC132089343, LOC132089344, LOC132090764, LOC132090765, LOC132090766, LOC132090767, LOC132090768, LOC285762, MAN1A1, MCM9, MED23, MIR3144, MIR548AJ1, MIR548B, MIR548H5, MIR588, MOXD1, MTCL3, NCOA7, NCOA7-AS1, NKAIN2, NT5DC1, NUS1, OR2A4, PKIB, PLN, PTPRK, PTPRK-AS1, RFX6, RNF146, RNF217, RNF217-AS1, ROS1, RPS12, RSPH4A, RSPO3, RWDD1, SAMD3, SERINC1, SLC18B1, SLC35F1, SMLR1, SMPDL3A, SNORA33, SNORD100, SNORD101, SOGA3-KIAA0408, STX7, TAAR1, TAAR2, TAAR5, TAAR6, TAAR8, TAAR9, TARID, TBC1D32, TCF21, THEMIS, TMEM200A, TMEM244, TPD52L1, TRAPPC3L, TRDN, TRDN-AS1, TRE-CTC1-7, TRMT11, TSPYL1, TSPYL4, VGLL2, VNN1, VNN2, VNN3, ZUP1 | | Interstitial 6q microdeletion syndrome | Pathogenic (Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:117136362-120040041
- GRCh38:
- Chr6:116815199-119718887
| ASF1A, CEP85L, DCBLD1, FAM184A, GOPC, GPRC6A, LOC101927919, LOC105377967, LOC105377975, LOC110121273, LOC121132704, LOC121740665, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC126859771, LOC126859772, LOC126859773, LOC127407129, LOC128667231, LOC129389624, LOC129389625, LOC129389626, LOC129389627, LOC129997055, LOC129997056, LOC129997057, LOC129997058, LOC129997059, LOC129997060, LOC129997061, LOC129997062, LOC129997063, LOC129997064, LOC129997065, LOC129997066, LOC129997067, LOC129997068, LOC129997069, LOC129997070, LOC129997071, LOC129997072, LOC129997073, LOC129997074, LOC129997075, LOC129997076, LOC129997077, LOC129997078, LOC129997079, LOC129997080, LOC129997081, LOC129997082, LOC129997083, LOC129997084, LOC129997085, LOC129997086, LOC129997087, LOC129997088, LOC132089320, LOC285762, MAN1A1, MCM9, MIR548B, NUS1, PLN, RFX6, ROS1, SLC35F1, VGLL2 | | See cases | Likely pathogenic (Mar 26, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr6:117928310-127021125
- GRCh38:
- Chr6:117607147-126699980
| ASF1A, CENPW, CEP85L, CLVS2, FABP7, FAM184A, GJA1, HDDC2, HEY2, HEY2-AS1, HINT3, HSF2, LINC02523, LOC100126584, LOC101927919, LOC102723341, LOC105377967, LOC105377975, LOC108228196, LOC110121273, LOC113146409, LOC116183067, LOC116183068, LOC121132705, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC123833535, LOC123833536, LOC123833537, LOC123864060, LOC123864061, LOC123864062, LOC126859772, LOC126859773, LOC126859774, LOC126859775, LOC126859776, LOC126859777, LOC126859778, LOC126859779, LOC129389624, LOC129389625, LOC129389626, LOC129389627, LOC129389628, LOC129389629, LOC129389630, LOC129389631, LOC129389632, LOC129389633, LOC129389634, LOC129389635, LOC129389636, LOC129389637, LOC129389638, LOC129389639, LOC129389640, LOC129389641, LOC129389642, LOC129389643, LOC129997067, LOC129997068, LOC129997069, LOC129997070, LOC129997071, LOC129997072, LOC129997073, LOC129997074, LOC129997075, LOC129997076, LOC129997077, LOC129997078, LOC129997079, LOC129997080, LOC129997081, LOC129997082, LOC129997083, LOC129997084, LOC129997085, LOC129997086, LOC129997087, LOC129997088, LOC129997089, LOC129997090, LOC129997091, LOC129997092, LOC129997093, LOC129997094, LOC129997095, LOC129997096, LOC129997097, LOC129997098, LOC129997099, LOC129997100, LOC129997101, LOC129997102, LOC129997103, LOC129997104, LOC129997105, LOC129997106, LOC129997107, LOC129997108, LOC129997109, LOC129997110, LOC129997111, LOC129997112, LOC129997113, LOC129997114, LOC132089321, LOC132089322, LOC132089323, LOC132089324, LOC132089325, LOC132089326, LOC132089327, LOC132089328, LOC132089329, LOC132089330, LOC132089331, LOC132089332, LOC132090764, LOC132090765, LOC132090766, LOC132090767, LOC285762, MAN1A1, MCM9, MIR3144, MIR548B, MIR588, NCOA7, NCOA7-AS1, NKAIN2, NUS1, PKIB, PLN, RNF217, RNF217-AS1, SERINC1, SLC35F1, SMPDL3A, TBC1D32, TPD52L1, TRDN, TRDN-AS1, TRE-CTC1-7, TRMT11 | | See cases | Pathogenic (Oct 7, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr6:118551027-119044197
- GRCh38:
- Chr6:118229864-118723034
| CEP85L, LOC110121273, LOC123833532, LOC126859773, LOC129389626, LOC129997070, LOC129997071, LOC129997072, LOC129997073, LOC129997074, PLN, SLC35F1 | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118711850-119057295
- GRCh38:
- Chr6:118390687-118736132
| CEP85L, LOC110121273, LOC123833532, LOC126859773, LOC129389626, LOC129997071, LOC129997072, LOC129997073, LOC129997074, PLN | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118830249-119925663
- GRCh38:
- Chr6:118509086-119604498
| ASF1A, CEP85L, FAM184A, LOC105377975, LOC110121273, LOC123833532, LOC123833533, LOC123833534, LOC126859773, LOC129389626, LOC129389627, LOC129997071, LOC129997072, LOC129997073, LOC129997074, LOC129997075, LOC129997076, LOC129997077, LOC129997078, LOC129997079, LOC129997080, LOC129997081, LOC129997082, LOC129997083, LOC129997084, LOC129997085, LOC129997086, LOC129997087, LOC129997088, LOC285762, MAN1A1, MCM9, MIR548B, PLN | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118869224-118880253
- GRCh38:
- Chr6:118548061-118559090
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Pathogenic (Aug 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118869224-118880253
- GRCh38:
- Chr6:118548061-118559090
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Uncertain significance (Dec 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118869339
- GRCh38:
- Chr6:118548176
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Uncertain significance (Aug 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118869345
- GRCh38:
- Chr6:118548182
| PLN, CEP85L | | Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P
| Uncertain significance (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118869382-118880263
- GRCh38:
- Chr6:118548219-118559100
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Uncertain significance (Jun 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118869382
- GRCh38:
- Chr6:118548219
| PLN, CEP85L | | Dilated cardiomyopathy 1P | Uncertain significance (Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118869412
- GRCh38:
- Chr6:118548249
| CEP85L, PLN | | not provided, Dilated cardiomyopathy 1P | Conflicting interpretations of pathogenicity (Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:118869417
- GRCh38:
- Chr6:118548254
| PLN, CEP85L | | Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P
| Uncertain significance (May 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118869423
- GRCh38:
- Chr6:118548260
| CEP85L, PLN | | not specified, Lissencephaly 10, not provided, Dilated cardiomyopathy 1P | Benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118869503
- GRCh38:
- Chr6:118548340
| CEP85L, PLN | | not provided, Dilated cardiomyopathy 1P | Benign/Likely benign (Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118869511
- GRCh38:
- Chr6:118548348
| PLN, CEP85L | | Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy | Uncertain significance (Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118869533
- GRCh38:
- Chr6:118548370
| CEP85L, PLN | | Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, Dilated cardiomyopathy 1P
| Uncertain significance (Jul 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118869570
- GRCh38:
- Chr6:118548407
| CEP85L, PLN | | not provided | Likely benign (Apr 25, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118869572
- GRCh38:
- Chr6:118548409
| CEP85L, PLN | | not specified | Likely benign (Mar 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118879695
- GRCh38:
- Chr6:118558532
| CEP85L, PLN | | not provided | Likely benign (Jun 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118879782
- GRCh38:
- Chr6:118558619
| CEP85L, PLN | | not provided | Benign (Aug 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118879788-118879789
- GRCh38:
- Chr6:118558625-118558626
| CEP85L, PLN | | not provided | Likely benign (Oct 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118879789-118879790
- GRCh38:
- Chr6:118558626-118558627
| CEP85L, PLN | | not provided | Benign (Aug 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118879789-118879790
- GRCh38:
- Chr6:118558626-118558627
| CEP85L, PLN | | not provided | Benign (Nov 14, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118879789-118879790
- GRCh38:
- Chr6:118558626-118558627
| CEP85L, PLN | | not provided | Benign (Aug 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118879789-118879790
- GRCh38:
- Chr6:118558626-118558627
| CEP85L, PLN | | not provided | Benign (Aug 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118879790-118879793
- GRCh38:
- Chr6:118558627-118558630
| CEP85L, PLN | | not provided | Benign (Aug 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118879810-118879825
- GRCh38:
- Chr6:118558647-118558662
| PLN, CEP85L | | not provided | Benign (Aug 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118879819
- GRCh38:
- Chr6:118558656
| CEP85L, PLN | | not provided | Benign (Aug 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118879821
- GRCh38:
- Chr6:118558658
| CEP85L, PLN | | not provided | Benign (Aug 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118879822-118879827
- GRCh38:
- Chr6:118558659-118558664
| CEP85L, PLN | | not provided | Likely benign (Aug 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118879825
- GRCh38:
- Chr6:118558662
| CEP85L, PLN | | not provided | Benign (Aug 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118879827
- GRCh38:
- Chr6:118558664
| CEP85L, PLN | | not provided | Benign (Aug 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118879829
- GRCh38:
- Chr6:118558666
| CEP85L, PLN | | not provided | Benign (Aug 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118879883
- GRCh38:
- Chr6:118558720
| PLN, CEP85L | | not provided | Likely benign (Jun 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118879935
- GRCh38:
- Chr6:118558772
| CEP85L, PLN | | not provided | Likely benign (Jun 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118879979
- GRCh38:
- Chr6:118558816
| CEP85L, PLN | | not provided | Likely benign (Dec 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118879983
- GRCh38:
- Chr6:118558820
| CEP85L, PLN | | not provided, Dilated cardiomyopathy 1P | Uncertain significance (Apr 11, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118879988-118881587
- GRCh38:
- Chr6:118558825-118560424
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Uncertain significance (Jul 31, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880029
- GRCh38:
- Chr6:118558866
| CEP85L, PLN | | not provided, Dilated cardiomyopathy 1P | Conflicting interpretations of pathogenicity (Apr 27, 2017) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:118880045
- GRCh38:
- Chr6:118558882
| CEP85L, PLN | | not specified | Likely benign (Mar 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880071
- GRCh38:
- Chr6:118558908
| CEP85L, PLN | | not specified | Likely benign (Mar 17, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880081
- GRCh38:
- Chr6:118558918
| CEP85L, PLN | | Cardiovascular phenotype | Uncertain significance (Jan 20, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880086
- GRCh38:
- Chr6:118558923
| CEP85L, PLN | M1T | not specified | Uncertain significance (Nov 20, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880090-118880091
- GRCh38:
- Chr6:118558927-118558928
| CEP85L, PLN | V4fs | Dilated cardiomyopathy 1P | Pathogenic (May 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880098
- GRCh38:
- Chr6:118558935
| CEP85L, PLN | Q5R | not specified | Uncertain significance (Jun 23, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880100
- GRCh38:
- Chr6:118558937
| PLN, CEP85L | Y6H | Dilated cardiomyopathy 1P | Uncertain significance (Feb 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880106-118880107
- GRCh38:
- Chr6:118558943-118558944
| CEP85L, PLN | A11fs | Dilated cardiomyopathy 1P | Pathogenic (Oct 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880106
- GRCh38:
- Chr6:118558943
| CEP85L, PLN | T8P | Dilated cardiomyopathy 1P | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880109
- GRCh38:
- Chr6:118558946
| CEP85L, PLN | R9C | not provided, Cardiomyopathy, Primary dilated cardiomyopathy, Dilated cardiomyopathy 1P | Pathogenic (Aug 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880110
- GRCh38:
- Chr6:118558947
| PLN, CEP85L | R9H | Cardiovascular phenotype, not specified, Dilated cardiomyopathy 1P
| Conflicting interpretations of pathogenicity (Jun 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:118880111
- GRCh38:
- Chr6:118558948
| PLN, CEP85L | | not specified | Likely benign (Aug 29, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880111
- GRCh38:
- Chr6:118558948
| CEP85L, PLN | | Cardiovascular phenotype, not specified, not provided, Cardiomyopathy, Dilated cardiomyopathy 1P | Conflicting interpretations of pathogenicity (Feb 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:118880113
- GRCh38:
- Chr6:118558950
| CEP85L, PLN | S10L | Dilated cardiomyopathy 1P | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880115
- GRCh38:
- Chr6:118558952
| CEP85L, PLN | A11P | Dilated cardiomyopathy 1P | Uncertain significance (Jan 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880115
- GRCh38:
- Chr6:118558952
| CEP85L, PLN | A11T | Dilated cardiomyopathy 1P | Uncertain significance (Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880118-118880119
- GRCh38:
- Chr6:118558955-118558956
| CEP85L, PLN | R13fs | Cardiovascular phenotype | Uncertain significance (Apr 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880118
- GRCh38:
- Chr6:118558955
| CEP85L, PLN | I12V | Cardiovascular phenotype, Cardiomyopathy, Dilated cardiomyopathy 1P, not provided | Uncertain significance (Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880119
- GRCh38:
- Chr6:118558956
| CEP85L, PLN | I12T | not provided, Cardiovascular phenotype | Uncertain significance (Dec 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880119-118880120
- GRCh38:
- Chr6:118558956-118558957
| CEP85L, PLN | R13fs | not specified | Uncertain significance (Feb 24, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880120
- GRCh38:
- Chr6:118558957
| CEP85L, PLN | I12M | Cardiomyopathy, Dilated cardiomyopathy 1P | Uncertain significance (Apr 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880120-118880122
- GRCh38:
- Chr6:118558957-118558959
| CEP85L, PLN | R14del | Cardiovascular phenotype, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 18, SUDDEN INFANT DEATH SYNDROME, Primary dilated cardiomyopathy, Dilated cardiomyopathy 1P | Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:118880122
- GRCh38:
- Chr6:118558959
| CEP85L, PLN | R13K | Cardiovascular phenotype | Uncertain significance (Jun 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880125
- GRCh38:
- Chr6:118558962
| CEP85L, PLN | R14I | Cardiovascular phenotype, Dilated cardiomyopathy 1P | Uncertain significance (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880127
- GRCh38:
- Chr6:118558964
| CEP85L, PLN | A15T | not specified, Dilated cardiomyopathy 1P | Conflicting interpretations of pathogenicity (Dec 24, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:118880129
- GRCh38:
- Chr6:118558966
| CEP85L, PLN | | Dilated cardiomyopathy 1P, Cardiovascular phenotype | Likely benign (Jun 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880137
- GRCh38:
- Chr6:118558974
| CEP85L, PLN | I18T | Cardiomyopathy, Cardiovascular phenotype, Dilated cardiomyopathy 1P, Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18, Hypertrophic cardiomyopathy
| Uncertain significance (Oct 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880140
- GRCh38:
- Chr6:118558977
| CEP85L, PLN | E19G | Cardiovascular phenotype, Dilated cardiomyopathy 1P | Uncertain significance (May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880145
- GRCh38:
- Chr6:118558982
| CEP85L, PLN | P21S | Hypertrophic cardiomyopathy 18 | Uncertain significance (Feb 14, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880145-118880146
- GRCh38:
- Chr6:118558982-118558983
| CEP85L, PLN | Q22fs | Cardiovascular phenotype, not specified, Cardiomyopathy, Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity (May 11, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:118880145
- GRCh38:
- Chr6:118558982
| CEP85L, PLN | P21T | Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, not provided, Dilated cardiomyopathy 1P | Uncertain significance (Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880146-118880147
- GRCh38:
- Chr6:118558983-118558984
| CEP85L, PLN | Q22fs | Hypertrophic cardiomyopathy 18 | Likely pathogenic (Dec 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880151
- GRCh38:
- Chr6:118558988
| CEP85L, PLN | Q23E | not specified | Uncertain significance (Mar 11, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880153
- GRCh38:
- Chr6:118558990
| CEP85L, PLN | | not provided, Dilated cardiomyopathy 1P | Likely benign (Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880157
- GRCh38:
- Chr6:118558994
| CEP85L, PLN | R25C | Cardiovascular phenotype, not provided, Dilated cardiomyopathy 1P
| Conflicting interpretations of pathogenicity (Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:118880157
- GRCh38:
- Chr6:118558994
| CEP85L, PLN | R25G | not provided, Dilated cardiomyopathy 1P | Uncertain significance (Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880158
- GRCh38:
- Chr6:118558995
| PLN, CEP85L | R25H | Cardiovascular phenotype, Dilated cardiomyopathy 1P, not provided
| Uncertain significance (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880163
- GRCh38:
- Chr6:118559000
| CEP85L, PLN | K27E | Dilated cardiomyopathy 1P | Uncertain significance (Aug 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880169
- GRCh38:
- Chr6:118559006
| CEP85L, PLN | Q29* | Dilated cardiomyopathy 1P | Pathogenic (Oct 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880171
- GRCh38:
- Chr6:118559008
| PLN, CEP85L | Q29H | Cardiovascular phenotype | Uncertain significance (Aug 11, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880174
- GRCh38:
- Chr6:118559011
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880176-118880179
- GRCh38:
- Chr6:118559013-118559016
| CEP85L, PLN | F32fs | Dilated cardiomyopathy 1P | Pathogenic (Apr 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880188-118880189
- GRCh38:
- Chr6:118559025-118559026
| PLN, CEP85L | F35fs | Dilated cardiomyopathy 1P | Pathogenic (Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880197
- GRCh38:
- Chr6:118559034
| CEP85L, PLN | I38T | Dilated cardiomyopathy 1P | Uncertain significance (Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880198
- GRCh38:
- Chr6:118559035
| CEP85L, PLN | I38M | Cardiovascular phenotype | Uncertain significance (Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880200
- GRCh38:
- Chr6:118559037
| CEP85L, PLN | L39* | Cardiovascular phenotype, Intrinsic cardiomyopathy, not provided, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, Cardiomyopathy, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy | Pathogenic/Likely pathogenic (Sep 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880205
- GRCh38:
- Chr6:118559042
| PLN, CEP85L | C41S | Dilated cardiomyopathy 1P | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880207-118880208
- GRCh38:
- Chr6:118559044-118559045
| PLN, CEP85L | L43fs | Cardiovascular phenotype, Dilated cardiomyopathy 1P | Uncertain significance (Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880208
- GRCh38:
- Chr6:118559045
| PLN, CEP85L | L42I | Dilated cardiomyopathy 1P | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880211-118880212
- GRCh38:
- Chr6:118559048-118559049
| CEP85L, PLN | | not provided, Dilated cardiomyopathy 1P | Uncertain significance (Sep 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880215
- GRCh38:
- Chr6:118559052
| CEP85L, PLN | L44P | Cardiovascular phenotype, Dilated cardiomyopathy 1P | Uncertain significance (Jun 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880222
- GRCh38:
- Chr6:118559059
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Likely benign (Jun 16, 2021) | criteria provided, single submitter |