| - 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:
- Chr6:76635916-93420511
- GRCh38:
- Chr6:75926199-92710793
| ME1, MEI4, MIR10524, MIR4464, MIR4643, MRAP2, NT5E, ORC3, PGM3, PHIP, PM20D2, PNRC1, PNRC1-DT, PRSS35, RARS2, RIPPLY2, RIPPLY2-CYB5R4, RNGTT, RRAGD, RWDD2A, SH3BGRL2, SLC35A1, SMIM8, SNAP91, SNHG5, SNORD50A, SNORD50B, SNX14, SPACA1, SRSF12, SYNCRIP, TBX18, TBX18-AS1, TENT5A, TPBG, TTK, UBE2J1, UBE3D, ZNF292, AKIRIN2, ANKRD6, BACH2, BCKDHB, C6orf163, CASC6, CASP8AP2, CEP162, CFAP206, CGA, CNR1, CYB5R4, DOP1A, ELOVL4, GABRR1, GABRR2, GJA10, GJB7, HMGN3, HMGN3-AS1, HTR1B, HTR1E, IBTK, IMPG1, IRAK1BP1, LCA5, LCAL1, LINC01526, LINC01590, LINC01611, LINC01621, LINC02531, LINC02535, LINC02540, LINC02542, LOC101928911, LOC101928936, LOC105377862, LOC105377879, LOC108348029, LOC110121249, LOC111413030, LOC111429613, LOC113175019, LOC113175020, LOC116183065, LOC116183066, LOC121132695, LOC121132696, LOC121132697, LOC121132698, LOC121132699, LOC121132700, LOC121740657, LOC121740658, LOC123775376, LOC123775377, LOC123775378, LOC123775379, LOC123775380, LOC123775381, LOC123775382, LOC123775383, LOC123775384, LOC123775385, LOC126859715, LOC126859716, LOC126859717, LOC126859718, LOC126859719, LOC126859720, LOC126859721, LOC126859722, LOC126859723, LOC126859724, LOC126859725, LOC126859726, LOC126859727, LOC126859728, LOC126859729, LOC126859730, LOC126859731, LOC126859732, LOC126859733, LOC126859734, LOC126859735, LOC126859736, LOC126859737, LOC126859738, LOC126859739, LOC126859740, LOC126859741, LOC126859742, LOC126859743, LOC126859744, LOC126859745, LOC126859746, LOC128772296, LOC128772297, LOC128772298, LOC128772299, LOC128772300, LOC128772301, LOC128772302, LOC128772303, LOC129389559, LOC129389560, LOC129389561, LOC129389562, LOC129389563, LOC129389564, LOC129389565, LOC129389566, LOC129389567, LOC129389568, LOC129389569, LOC129389570, LOC129389571, LOC129389572, LOC129389573, LOC129389574, LOC129389575, LOC129389576, LOC129389577, LOC129389578, LOC129389579, LOC129389580, LOC129389581, LOC129389582, LOC129996740, LOC129996741, LOC129996742, LOC129996743, LOC129996744, LOC129996745, LOC129996746, LOC129996747, LOC129996748, LOC129996749, LOC129996750, LOC129996751, LOC129996752, LOC129996753, LOC129996754, LOC129996755, LOC129996756, LOC129996757, LOC129996758, LOC129996759, LOC129996760, LOC129996761, LOC129996762, LOC129996763, LOC129996764, LOC129996765, LOC129996766, LOC129996767, LOC129996768, LOC129996769, LOC129996770, LOC129996771, LOC129996772, LOC129996773, LOC129996774, LOC129996775, LOC129996776, LOC129996777, LOC129996778, LOC129996779, LOC129996780, LOC129996781, LOC129996782, LOC129996783, LOC129996784, LOC129996785, LOC129996786, LOC129996787, LOC129996788, LOC129996789, LOC129996790, LOC129996791, LOC129996792, LOC129996793, LOC129996794, LOC129996795, LOC129996796, LOC129996797, LOC129996798, LOC129996799, LOC129996800, LOC129996801, LOC129996802, LOC129996803, LOC129996804, LOC129996805, LOC129996806, LOC129996807, LOC129996808, LOC129996809, LOC129996810, LOC129996811, LOC129996812, LOC129996813, LOC129996814, LOC129996815, LOC129996816, LOC129996817, LOC129996818, LOC129996819, LOC129996820, LOC129996821, LOC129996822, LOC129996823, LOC129996824, LOC129996825, LOC129996826, LOC129996827, LOC129996828, LOC129996829, LOC129996830, LOC129996831, LOC129996832, LOC129996833, LOC129996834, LOC129996835, LOC129996836, LOC129996837, LOC129996838, LOC129996839, LOC129996840, LOC129996841, LOC129996842, LOC129996843, LOC129996844, LOC132089464, LOC132089465, LOC132089466, LOC132089467, LOC132089468, LOC132089469, LOC132089470, LOC132089471, LOC132089472, LOC132089473, LOC132089474, LOC132089475, LOC132089476, LOC132089477, LOC132089478, LOC132089479, LOC132089480, LOC132089481, LOC132089482, LOC132089501, LOC132089502, LOC132090762, LOC132090763, LOC132205965, LYRM2, MAP3K7, MDN1, MDN1-AS1 | | See cases | Pathogenic (Jul 16, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr6:83278815-94463194
- GRCh38:
- Chr6:82569098-93753476
| AKIRIN2, ANKRD6, BACH2, C6orf163, CASC6, CASP8AP2, CEP162, CFAP206, CGA, CNR1, CYB5R4, DOP1A, EPHA7, GABRR1, GABRR2, GJA10, GJB7, HTR1E, LINC01590, LINC01611, LINC02531, LINC02535, LOC101928911, LOC101928936, LOC105377879, LOC108348029, LOC110121249, LOC111413030, LOC111429613, LOC113175019, LOC113175020, LOC116183065, LOC116183066, LOC121132696, LOC121132697, LOC121132698, LOC121132699, LOC121132700, LOC121740658, LOC123775379, LOC123775380, LOC123775381, LOC123775382, LOC123775383, LOC123775384, LOC123775385, LOC126859726, LOC126859727, LOC126859728, LOC126859729, LOC126859730, LOC126859731, LOC126859732, LOC126859733, LOC126859734, LOC126859735, LOC126859736, LOC126859737, LOC126859738, LOC126859739, LOC126859740, LOC126859741, LOC126859742, LOC126859743, LOC126859744, LOC126859745, LOC126859746, LOC128772296, LOC128772297, LOC128772298, LOC128772299, LOC128772300, LOC128772301, LOC128772302, LOC128772303, LOC129389564, LOC129389565, LOC129389566, LOC129389567, LOC129389568, LOC129389569, LOC129389570, LOC129389571, LOC129389572, LOC129389573, LOC129389574, LOC129389575, LOC129389576, LOC129389577, LOC129389578, LOC129389579, LOC129389580, LOC129389581, LOC129389582, LOC129996759, LOC129996760, LOC129996761, LOC129996762, LOC129996763, LOC129996764, LOC129996765, LOC129996766, LOC129996767, LOC129996768, LOC129996769, LOC129996770, LOC129996771, LOC129996772, LOC129996773, LOC129996774, LOC129996775, LOC129996776, LOC129996777, LOC129996778, LOC129996779, LOC129996780, LOC129996781, LOC129996782, LOC129996783, LOC129996784, LOC129996785, LOC129996786, LOC129996787, LOC129996788, LOC129996789, LOC129996790, LOC129996791, LOC129996792, LOC129996793, LOC129996794, LOC129996795, LOC129996796, LOC129996797, LOC129996798, LOC129996799, LOC129996800, LOC129996801, LOC129996802, LOC129996803, LOC129996804, LOC129996805, LOC129996806, LOC129996807, LOC129996808, LOC129996809, LOC129996810, LOC129996811, LOC129996812, LOC129996813, LOC129996814, LOC129996815, LOC129996816, LOC129996817, LOC129996818, LOC129996819, LOC129996820, LOC129996821, LOC129996822, LOC129996823, LOC129996824, LOC129996825, LOC129996826, LOC129996827, LOC129996828, LOC129996829, LOC129996830, LOC129996831, LOC129996832, LOC129996833, LOC129996834, LOC129996835, LOC129996836, LOC129996837, LOC129996838, LOC129996839, LOC129996840, LOC129996841, LOC129996842, LOC129996843, LOC129996844, LOC129996845, LOC129996846, LOC132089501, LOC132089502, LOC132089503, LYRM2, MAP3K7, MDN1, MDN1-AS1, ME1, MIR4464, MIR4643, MRAP2, NT5E, ORC3, PGM3, PM20D2, PNRC1, PNRC1-DT, PRSS35, RARS2, RIPPLY2, RIPPLY2-CYB5R4, RNGTT, RRAGD, RWDD2A, SLC35A1, SMIM8, SNAP91, SNHG5, SNORD50A, SNORD50B, SNX14, SPACA1, SRSF12, SYNCRIP, TBX18, TBX18-AS1, TSG1, UBE2J1, UBE3D, ZNF292 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr6:84548022-99270189
- GRCh38:
- Chr6:83838303-98822313
| SMIM8, SNHG5, SNORD50A, SNORD50B, SNX14, SPACA1, SRSF12, SYNCRIP, TBX18, TBX18-AS1, TSG1, UBE2J1, UFL1, UFL1-AS1, ZNF292, AKIRIN2, ANKRD6, BACH2, C6orf163, CASC6, CASP8AP2, CEP162, CFAP206, CGA, CNR1, CYB5R4, EPHA7, FHL5, FUT9, GABRR1, GABRR2, GJA10, GJB7, GPR63, HTR1E, KLHL32, LINC01590, LINC01611, LINC02531, LINC02535, LOC101927314, LOC101928911, LOC101928936, LOC108348029, LOC110120646, LOC110120647, LOC110120704, LOC110120705, LOC110120741, LOC110120818, LOC110120970, LOC110120984, LOC110120985, LOC110120999, LOC110121032, LOC110121036, LOC110121145, LOC110121249, LOC111413030, LOC111429613, LOC113175019, LOC113175020, LOC116183065, LOC116183066, LOC121132696, LOC121132697, LOC121132698, LOC121132699, LOC121132700, LOC121740658, LOC123775380, LOC123775381, LOC123775382, LOC123775383, LOC123775384, LOC123775385, LOC123775386, LOC123775387, LOC123775388, LOC126859728, LOC126859729, LOC126859730, LOC126859731, LOC126859732, LOC126859733, LOC126859734, LOC126859735, LOC126859736, LOC126859737, LOC126859738, LOC126859739, LOC126859740, LOC126859741, LOC126859742, LOC126859743, LOC126859744, LOC126859745, LOC126859746, LOC126859747, LOC128772296, LOC128772297, LOC128772298, LOC128772299, LOC128772300, LOC128772301, LOC128772302, LOC128772303, LOC129389567, LOC129389568, LOC129389569, LOC129389570, LOC129389571, LOC129389572, LOC129389573, LOC129389574, LOC129389575, LOC129389576, LOC129389577, LOC129389578, LOC129389579, LOC129389580, LOC129389581, LOC129389582, LOC129389583, LOC129389584, LOC129389585, LOC129389586, LOC129389587, LOC129389588, LOC129389589, LOC129996769, LOC129996770, LOC129996771, LOC129996772, LOC129996773, LOC129996774, LOC129996775, LOC129996776, LOC129996777, LOC129996778, LOC129996779, LOC129996780, LOC129996781, LOC129996782, LOC129996783, LOC129996784, LOC129996785, LOC129996786, LOC129996787, LOC129996788, LOC129996789, LOC129996790, LOC129996791, LOC129996792, LOC129996793, LOC129996794, LOC129996795, LOC129996796, LOC129996797, LOC129996798, LOC129996799, LOC129996800, LOC129996801, LOC129996802, LOC129996803, LOC129996804, LOC129996805, LOC129996806, LOC129996807, LOC129996808, LOC129996809, LOC129996810, LOC129996811, LOC129996812, LOC129996813, LOC129996814, LOC129996815, LOC129996816, LOC129996817, LOC129996818, LOC129996819, LOC129996820, LOC129996821, LOC129996822, LOC129996823, LOC129996824, LOC129996825, LOC129996826, LOC129996827, LOC129996828, LOC129996829, LOC129996830, LOC129996831, LOC129996832, LOC129996833, LOC129996834, LOC129996835, LOC129996836, LOC129996837, LOC129996838, LOC129996839, LOC129996840, LOC129996841, LOC129996842, LOC129996843, LOC129996844, LOC129996845, LOC129996846, LOC129996847, LOC129996848, LOC129996849, LOC129996850, LOC129996851, LOC129996852, LOC129996853, LOC129996854, LOC129996855, LOC129996856, LOC129996857, LOC129996858, LOC129996859, LOC129996860, LOC129996861, LOC132089501, LOC132089502, LOC132089503, LYRM2, MANEA, MANEA-DT, MAP3K7, MDN1, MDN1-AS1, MIR2113, MIR4464, MIR4643, MMS22L, MRAP2, NDUFAF4, NT5E, ORC3, PM20D2, PNRC1, PNRC1-DT, RARS2, RIPPLY2, RIPPLY2-CYB5R4, RNGTT, RRAGD, SLC35A1 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr6:85636582-88075159
- GRCh38:
- Chr6:84926864-87365441
| C6orf163, CGA, GJB7, HTR1E, LINC02535, LOC121132697, LOC121132698, LOC126859728, LOC126859729, LOC126859730, LOC126859731, LOC126859732, LOC129389570, LOC129389571, LOC129996772, LOC129996773, LOC129996774, LOC129996775, LOC129996776, LOC129996777, LOC129996778, LOC129996779, LOC129996780, LOC129996781, LOC129996782, LOC129996783, LOC129996784, LOC129996785, NT5E, SMIM8, SNHG5, SNORD50A, SNORD50B, SNX14, SYNCRIP, ZNF292 | | See cases | Likely pathogenic (Jan 13, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr6:86080434-91379512
- GRCh38:
- Chr6:85370716-90669793
| AKIRIN2, ANKRD6, BACH2, C6orf163, CASP8AP2, CFAP206, CGA, CNR1, GABRR1, GABRR2, GJA10, GJB7, HTR1E, LINC01590, LINC02535, LOC101928911, LOC101928936, LOC108348029, LOC111413030, LOC113175020, LOC116183066, LOC121132697, LOC121132698, LOC121132699, LOC121132700, LOC121740658, LOC123775382, LOC123775383, LOC123775384, LOC126859728, LOC126859729, LOC126859730, LOC126859731, LOC126859732, LOC126859733, LOC126859734, LOC126859735, LOC126859736, LOC126859737, LOC126859738, LOC126859739, LOC126859740, LOC126859741, LOC126859742, LOC126859743, LOC128772296, LOC128772297, LOC128772298, LOC128772299, LOC128772300, LOC128772301, LOC128772302, LOC128772303, LOC129389570, LOC129389571, LOC129389572, LOC129389573, LOC129389574, LOC129389575, LOC129389576, LOC129389577, LOC129389578, LOC129389579, LOC129389580, LOC129389581, LOC129996774, LOC129996775, LOC129996776, LOC129996777, LOC129996778, LOC129996779, LOC129996780, LOC129996781, LOC129996782, LOC129996783, LOC129996784, LOC129996785, LOC129996786, LOC129996787, LOC129996788, LOC129996789, LOC129996790, LOC129996791, LOC129996792, LOC129996793, LOC129996794, LOC129996795, LOC129996796, LOC129996797, LOC129996798, LOC129996799, LOC129996800, LOC129996801, LOC129996802, LOC129996803, LOC129996804, LOC129996805, LOC129996806, LOC129996807, LOC129996808, LOC129996809, LOC129996810, LOC129996811, LOC129996812, LOC129996813, LOC129996814, LOC129996815, LOC129996816, LOC129996817, LOC129996818, LOC129996819, LOC129996820, LOC129996821, LOC129996822, LOC129996823, LOC129996824, LOC129996825, LOC129996826, LOC129996827, LOC129996828, LOC129996829, LOC129996830, LOC129996831, LOC129996832, LOC129996833, LOC129996834, LOC129996835, LOC129996836, LOC129996837, LOC129996838, LOC129996839, LOC129996840, LOC129996841, LOC129996842, LOC129996843, LYRM2, MAP3K7, MDN1, MDN1-AS1, MIR4464, NT5E, ORC3, PM20D2, PNRC1, PNRC1-DT, RARS2, RNGTT, RRAGD, SLC35A1, SMIM8, SNHG5, SNORD50A, SNORD50B, SNX14, SPACA1, SRSF12, SYNCRIP, UBE2J1, ZNF292 | | See cases | Pathogenic (Jan 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr6:86513991-93898976
- GRCh38:
- Chr6:85804273-93189258
| AKIRIN2, ANKRD6, BACH2, C6orf163, CASC6, CASP8AP2, CFAP206, CGA, CNR1, GABRR1, GABRR2, GJA10, GJB7, HTR1E, LINC01590, LINC02531, LOC101928911, LOC101928936, LOC108348029, LOC111413030, LOC111429613, LOC113175020, LOC116183066, LOC121132698, LOC121132699, LOC121132700, LOC121740658, LOC123775382, LOC123775383, LOC123775384, LOC123775385, LOC126859728, LOC126859729, LOC126859730, LOC126859731, LOC126859732, LOC126859733, LOC126859734, LOC126859735, LOC126859736, LOC126859737, LOC126859738, LOC126859739, LOC126859740, LOC126859741, LOC126859742, LOC126859743, LOC126859744, LOC126859745, LOC126859746, LOC128772296, LOC128772297, LOC128772298, LOC128772299, LOC128772300, LOC128772301, LOC128772302, LOC128772303, LOC129389571, LOC129389572, LOC129389573, LOC129389574, LOC129389575, LOC129389576, LOC129389577, LOC129389578, LOC129389579, LOC129389580, LOC129389581, LOC129389582, LOC129996781, LOC129996782, LOC129996783, LOC129996784, LOC129996785, LOC129996786, LOC129996787, LOC129996788, LOC129996789, LOC129996790, LOC129996791, LOC129996792, LOC129996793, LOC129996794, LOC129996795, LOC129996796, LOC129996797, LOC129996798, LOC129996799, LOC129996800, LOC129996801, LOC129996802, LOC129996803, LOC129996804, LOC129996805, LOC129996806, LOC129996807, LOC129996808, LOC129996809, LOC129996810, LOC129996811, LOC129996812, LOC129996813, LOC129996814, LOC129996815, LOC129996816, LOC129996817, LOC129996818, LOC129996819, LOC129996820, LOC129996821, LOC129996822, LOC129996823, LOC129996824, LOC129996825, LOC129996826, LOC129996827, LOC129996828, LOC129996829, LOC129996830, LOC129996831, LOC129996832, LOC129996833, LOC129996834, LOC129996835, LOC129996836, LOC129996837, LOC129996838, LOC129996839, LOC129996840, LOC129996841, LOC129996842, LOC129996843, LOC129996844, LOC132089501, LOC132089502, LYRM2, MAP3K7, MDN1, MDN1-AS1, MIR4464, MIR4643, ORC3, PM20D2, PNRC1, PNRC1-DT, RARS2, RNGTT, RRAGD, SLC35A1, SMIM8, SPACA1, SRSF12, UBE2J1, ZNF292 | | See cases | Pathogenic (Jul 30, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr6:86969283-88022690
- GRCh38:
- Chr6:86259565-87312972
| CGA, GJB7, HTR1E, LOC121132698, LOC126859728, LOC126859729, LOC126859730, LOC126859731, LOC126859732, LOC129389571, LOC129996781, LOC129996782, LOC129996783, LOC129996784, ZNF292 | | See cases | Uncertain significance (Feb 25, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr6:87760099-88245236
- GRCh38:
- Chr6:87050381-87535518
| C6orf163, CFAP206, CGA, GJB7, LINC01590, LOC126859732, LOC126859733, LOC129996781, LOC129996782, LOC129996783, LOC129996784, LOC129996785, LOC129996786, LOC129996787, RARS2, SLC35A1, SMIM8, ZNF292 | | See cases | Uncertain significance (Apr 30, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr6:87865311
- GRCh38:
- Chr6:87155593
| LOC129996783, ZNF292 | M1R | Intellectual developmental disorder, autosomal dominant 64 | Uncertain significance (Mar 14, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87865349
- GRCh38:
- Chr6:87155631
| LOC129996783, ZNF292 | G14S | Inborn genetic diseases | Uncertain significance (Sep 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87865356
- GRCh38:
- Chr6:87155638
| LOC129996783, ZNF292 | G16A | Inborn genetic diseases | Uncertain significance (Dec 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87865367
- GRCh38:
- Chr6:87155649
| ZNF292, LOC129996783 | A20T | Inborn genetic diseases | Likely benign (Jul 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87865370
- GRCh38:
- Chr6:87155652
| LOC129996783, ZNF292 | E21Q | Intellectual developmental disorder, autosomal dominant 64 | Likely pathogenic (Aug 21, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87865377
- GRCh38:
- Chr6:87155659
| LOC129996783, ZNF292 | Q23P | Inborn genetic diseases | Likely benign (Jun 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87865388
- GRCh38:
- Chr6:87155670
| LOC129996783, ZNF292 | E27Q | not provided | Uncertain significance (Feb 21, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87865391
- GRCh38:
- Chr6:87155673
| LOC129996783, ZNF292 | R28W | not provided | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87865427
- GRCh38:
- Chr6:87155709
| LOC129996783, ZNF292 | R40W | not provided | Uncertain significance (Aug 8, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87925627
- GRCh38:
- Chr6:87215909
| ZNF292 | L59V | Inborn genetic diseases | Uncertain significance (Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87925636
- GRCh38:
- Chr6:87215918
| ZNF292 | A62T | ZNF292-related condition | Uncertain significance (Jul 11, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87925641
- GRCh38:
- Chr6:87215923
| ZNF292 | E63D | not provided | Uncertain significance (Aug 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87925717
- GRCh38:
- Chr6:87215999
| ZNF292 | R89* | Intellectual disability, Intellectual developmental disorder, autosomal dominant 64 | Pathogenic/Likely pathogenic (May 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:87925721
- GRCh38:
- Chr6:87216003
| ZNF292 | P90R | Inborn genetic diseases | Uncertain significance (Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87925746
- GRCh38:
- Chr6:87216028
| ZNF292 | N98K | Inborn genetic diseases | Uncertain significance (Apr 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87925776
- GRCh38:
- Chr6:87216058
| ZNF292 | | Intellectual developmental disorder, autosomal dominant 64 | Uncertain significance (Jan 27, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87926045
- GRCh38:
- Chr6:87216327
| ZNF292 | P118S | See cases | Uncertain significance (Sep 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87928317
- GRCh38:
- Chr6:87218599
| ZNF292 | A136T | Intellectual developmental disorder, autosomal dominant 64 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr6:87928344
- GRCh38:
- Chr6:87218626
| ZNF292 | S145fs, S5fs | Inborn genetic diseases | Pathogenic (Dec 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87928347
- GRCh38:
- Chr6:87218629
| ZNF292 | C146G, C6G | not provided | Uncertain significance (Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87928374
- GRCh38:
- Chr6:87218656
| ZNF292 | A155T, A15T | not provided | Uncertain significance (Apr 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87928390
- GRCh38:
- Chr6:87218672
| ZNF292 | V20A, V160A | Inborn genetic diseases | Uncertain significance (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87928413
- GRCh38:
- Chr6:87218695
| ZNF292 | T168S, T28S | Inborn genetic diseases | Likely benign (Oct 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87928416
- GRCh38:
- Chr6:87218698
| ZNF292 | I169L, I29L | Intellectual developmental disorder, autosomal dominant 64 | Uncertain significance (Dec 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87928416
- GRCh38:
- Chr6:87218698
| ZNF292 | I169V, I29V | Inborn genetic diseases | Uncertain significance (Dec 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87928426
- GRCh38:
- Chr6:87218708
| ZNF292 | Q172R, Q32R | not provided | Likely benign (Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87943087
- GRCh38:
- Chr6:87233369
| ZNF292 | R195G, R55G | not provided | Uncertain significance (Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87943104
- GRCh38:
- Chr6:87233386
| ZNF292 | I200M, I60M | Inborn genetic diseases | Uncertain significance (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87953190
- GRCh38:
- Chr6:87243472
| ZNF292 | | not provided | Uncertain significance (May 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87953269
- GRCh38:
- Chr6:87243551
| ZNF292 | L133P, L273P | not provided | Likely pathogenic (Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87953275
- GRCh38:
- Chr6:87243557
| ZNF292 | L135S, L275S | not provided | Uncertain significance (Apr 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87953317
- GRCh38:
- Chr6:87243599
| ZNF292 | M149T, M289T | Inborn genetic diseases | Uncertain significance (Mar 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87953321
- GRCh38:
- Chr6:87243603
| ZNF292 | Y150*, Y290* | Intellectual developmental disorder, autosomal dominant 64 | Likely pathogenic (Jan 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87953322
- GRCh38:
- Chr6:87243604
| ZNF292 | C151G, C291G | not provided | Likely benign (Oct 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87955207
- GRCh38:
- Chr6:87245489
| ZNF292 | | not provided | Benign (Sep 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87955294
- GRCh38:
- Chr6:87245576
| ZNF292 | R178C, R318C | Inborn genetic diseases | Uncertain significance (Mar 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87955306
- GRCh38:
- Chr6:87245588
| ZNF292 | L322V, L182V | Inborn genetic diseases | Likely benign (Dec 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87964365
- GRCh38:
- Chr6:87254647
| ZNF292 | | Intellectual developmental disorder, autosomal dominant 64 | Uncertain significance (Jul 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87964449
- GRCh38:
- Chr6:87254731
| ZNF292 | K228E, K368E | Inborn genetic diseases | Uncertain significance (Sep 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87964507
- GRCh38:
- Chr6:87254789
| ZNF292 | R247H, R387H | not provided | Uncertain significance (Oct 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87964507
- GRCh38:
- Chr6:87254789
| ZNF292 | R247fs, R387fs | Neurodevelopmental disorder | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr6:87964525
- GRCh38:
- Chr6:87254807
| ZNF292 | E253V, E393V | not provided | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87964537
- GRCh38:
- Chr6:87254819
| ZNF292 | E257G, E397G | Inborn genetic diseases, Intellectual developmental disorder, autosomal dominant 64 | Uncertain significance (Nov 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:87964574
- GRCh38:
- Chr6:87254856
| ZNF292 | | Intellectual developmental disorder, autosomal dominant 64, not provided | Benign/Likely benign (May 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:87964606
- GRCh38:
- Chr6:87254888
| ZNF292 | E280G, E420G | Seizure | Uncertain significance (Feb 26, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr6:87964609
- GRCh38:
- Chr6:87254891
| ZNF292 | N281S, N421S | Intellectual developmental disorder, autosomal dominant 64 | Uncertain significance (Oct 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87964617
- GRCh38:
- Chr6:87254899
| ZNF292 | I284V, I424V | not provided | Uncertain significance (May 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87964620
- GRCh38:
- Chr6:87254902
| ZNF292 | P285S, P425S | Intellectual developmental disorder, autosomal dominant 64 | Uncertain significance (Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87964707
- GRCh38:
- Chr6:87254989
| ZNF292 | R314*, R454* | Intellectual developmental disorder, autosomal dominant 64 | Pathogenic (Mar 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87964735
- GRCh38:
- Chr6:87255017
| ZNF292 | E323A, E463A | not provided | Uncertain significance (Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87964755
- GRCh38:
- Chr6:87255037
| ZNF292 | I470V, I330V | Neurodevelopmental disorder | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr6:87964761
- GRCh38:
- Chr6:87255043
| ZNF292 | E332*, E472* | Intellectual developmental disorder, autosomal dominant 64 | Pathogenic (Nov 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87964770
- GRCh38:
- Chr6:87255052
| ZNF292 | D335H, D475H | Intellectual developmental disorder, autosomal dominant 64 | Uncertain significance (May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87964771
- GRCh38:
- Chr6:87255053
| ZNF292 | D335G, D475G | not specified | Uncertain significance (Jul 21, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87964831
- GRCh38:
- Chr6:87255113
| ZNF292 | N495S, N355S | Inborn genetic diseases | Uncertain significance (Oct 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87964846
- GRCh38:
- Chr6:87255128
| ZNF292 | G500V, G360V | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87964914
- GRCh38:
- Chr6:87255196
| ZNF292 | Q383*, Q523* | Neurodevelopmental disorder | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr6:87964965
- GRCh38:
- Chr6:87255247
| ZNF292 | Y400H, Y540H | Intellectual developmental disorder, autosomal dominant 64 | Uncertain significance (Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87964973
- GRCh38:
- Chr6:87255255
| ZNF292 | | not provided | Likely benign (Apr 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87964994
- GRCh38:
- Chr6:87255276
| ZNF292 | | ZNF292-related condition | Uncertain significance (Dec 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87965019
- GRCh38:
- Chr6:87255301
| ZNF292 | R418*, R558* | not provided | Likely pathogenic (Jul 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87965020
- GRCh38:
- Chr6:87255302
| ZNF292 | R418Q, R558Q | not provided | Uncertain significance (Dec 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87965057
- GRCh38:
- Chr6:87255339
| ZNF292 | C431fs, C571fs | not provided | Likely pathogenic (Oct 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87965062
- GRCh38:
- Chr6:87255344
| ZNF292 | P432L, P572L | not provided | Uncertain significance (Jul 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87965079
- GRCh38:
- Chr6:87255361
| ZNF292 | F578L, F438L | Inborn genetic diseases | Uncertain significance (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87965107
- GRCh38:
- Chr6:87255389
| ZNF292 | H447P, H587P | not provided | Uncertain significance (Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87965133-87965136
- GRCh38:
- Chr6:87255415-87255418
| ZNF292 | S456fs, S596fs | Intellectual disability | Likely pathogenic (Sep 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87965179
- GRCh38:
- Chr6:87255461
| ZNF292 | R611T, R471T | Inborn genetic diseases | Uncertain significance (Jan 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87965205
- GRCh38:
- Chr6:87255487
| ZNF292 | E480*, E620* | Neurodevelopmental disorder | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr6:87965244
- GRCh38:
- Chr6:87255526
| ZNF292 | R493*, R633* | ZNF292-related condition, not provided | Likely pathogenic (Sep 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:87965252
- GRCh38:
- Chr6:87255534
| ZNF292 | K497fs, K637fs | Neurodevelopmental disorder | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr6:87965293
- GRCh38:
- Chr6:87255575
| ZNF292 | N509S, N649S | not provided | Uncertain significance (Nov 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87965358
- GRCh38:
- Chr6:87255640
| ZNF292 | P531A, P671A | Inborn genetic diseases | Uncertain significance (Dec 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87965382-87965385
- GRCh38:
- Chr6:87255664-87255667
| ZNF292 | E540fs, E680fs | Intellectual developmental disorder, autosomal dominant 64 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr6:87965451
- GRCh38:
- Chr6:87255733
| ZNF292 | V562M, V702M | Inborn genetic diseases | Uncertain significance (Jan 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87965459
- GRCh38:
- Chr6:87255741
| ZNF292 | | not provided | Likely benign (Aug 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87965469-87965472
- GRCh38:
- Chr6:87255751-87255754
| ZNF292 | N568fs, N708fs | not provided | Likely pathogenic (Nov 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87965496
- GRCh38:
- Chr6:87255778
| ZNF292 | M717L, M577L | Inborn genetic diseases | Uncertain significance (Jun 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87965515
- GRCh38:
- Chr6:87255797
| ZNF292 | C584fs, C724fs | Neurodevelopmental disorder | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr6:87965519
- GRCh38:
- Chr6:87255801
| ZNF292 | | not provided | Benign/Likely benign (Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:87965528
- GRCh38:
- Chr6:87255810
| ZNF292 | | not provided | Benign (Aug 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87965551
- GRCh38:
- Chr6:87255833
| ZNF292 | T595N, T735N | not provided | Uncertain significance (Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87965605
- GRCh38:
- Chr6:87255887
| ZNF292 | I613T, I753T | Inborn genetic diseases | Likely benign (Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87965624
- GRCh38:
- Chr6:87255906
| ZNF292 | | not provided | Likely benign (Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87965637-87965638
- GRCh38:
- Chr6:87255919-87255920
| ZNF292 | Y624*, Y764* | Neurodevelopmental delay | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr6:87965658
- GRCh38:
- Chr6:87255940
| ZNF292 | R631*, R771* | Complex neurodevelopmental disorder | Uncertain significance (Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87965659
- GRCh38:
- Chr6:87255941
| ZNF292 | R631Q, R771Q | Intellectual developmental disorder, autosomal dominant 64 | Likely benign (May 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87965667
- GRCh38:
- Chr6:87255949
| ZNF292 | H634D, H774D | not provided | Uncertain significance (Aug 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87965707
- GRCh38:
- Chr6:87255989
| ZNF292 | G647E, G787E | Intellectual developmental disorder, autosomal dominant 64 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr6:87965719
- GRCh38:
- Chr6:87256001
| ZNF292 | S791L, S651L | Inborn genetic diseases | Uncertain significance (Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:87965751
- GRCh38:
- Chr6:87256033
| ZNF292 | Q662*, Q802* | Intellectual developmental disorder, autosomal dominant 64 | Likely pathogenic (Nov 20, 2019) | criteria provided, single submitter |