| - GRCh37:
- Chr6:75092523-142361637
- GRCh38:
- Chr6:74382807-142040500
| 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, 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, LOC101928516, LOC101928540, LOC101928911, LOC101928936, LOC102724646, LOC103352541, LOC105377879, LOC105377924, LOC105377967, LOC105377975, LOC107986532, 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, 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, LOC123833536, LOC123833537, LOC123864060, LOC123864061, LOC123864062, LOC123864063, LOC123864064, LOC123864065, LOC123864066, LOC123864067, LOC123864068, LOC123864069, LOC123864070, LOC123864071, LOC123864072, LOC123864073, LOC123864074, LOC123864075, LOC123864076, LOC123864077, LOC123864078, LOC123864079, LOC123864080, LOC123864081, LOC123864082, LOC123864083, LOC123864084, LOC123864085, LOC123864086, LOC124900217, LOC126859712, LOC126859713, LOC126859714, 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, LOC126859747, 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, LOC126859776, LOC126859777, LOC126859778, LOC126859779, LOC126859780, LOC126859781, LOC126859782, LOC126859783, LOC126859784, LOC126859785, LOC126859786, LOC126859787, LOC126859788, LOC126859789, LOC126859790, LOC126859791, LOC126859792, LOC126859793, LOC126859794, LOC126859795, LOC126859796, LOC126859797, LOC126859798, LOC126859799, LOC126859800, LOC126859801, LOC126859802, LOC126859803, LOC126859804, LOC126859805, LOC126859806, LOC126859807, LOC126859808, LOC126859809, LOC126859810, LOC126859811, LOC127407129, LOC128092253, LOC128559983, LOC128667231, LOC128669075, LOC128772296, LOC128772297, LOC128772298, LOC128772299, LOC128772300, LOC128772301, LOC128772302, LOC128772303, LOC285762, LYRM2, MAN1A1, MANEA, MANEA-DT, MAP3K5, MAP3K5-AS1, MAP3K5-AS2, MAP3K7, MAP7, MARCKS, MCHR2, MCHR2-AS1, MCM9, MDN1, MDN1-AS1, ME1, MED23, MEI4, METTL24, MFSD4B, MICAL1, MIR10524, MIR2113, MIR3144, MIR3145, MIR3662, MIR3668, MIR4463, MIR4464, MIR4465, MIR4643, MIR548A2, MIR548AI, MIR548AJ1, MIR548B, MIR548H5, MIR587, MIR588, MMS22L, MOXD1, MRAP2, MROCKI, MTFR2, 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, 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, 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
| 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, LINC02535, LINC02540, LINC02542, LOC101928911, LOC101928936, LOC105377879, LOC107986532, 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, LYRM2, MAP3K7, MDN1, MDN1-AS1, ME1, MEI4, MIR10524, MIR4464, MIR4643, MRAP2, NT5E, ORC3, PGM3, PHIP, PM20D2, PNRC1, 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 | | 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, LOC107986532, 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, LYRM2, MAP3K7, MDN1, MDN1-AS1, ME1, MIR4464, MIR4643, MRAP2, NT5E, ORC3, PGM3, PM20D2, PNRC1, 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
| 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, LOC107986532, 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, LYRM2, MANEA, MANEA-DT, MAP3K7, MDN1, MDN1-AS1, MIR2113, MIR4464, MIR4643, MMS22L, MRAP2, NDUFAF4, NT5E, ORC3, PM20D2, PNRC1, RARS2, RIPPLY2, RIPPLY2-CYB5R4, RNGTT, RRAGD, SLC35A1, SMIM8, SNHG5, SNORD50A, SNORD50B, SNX14, SPACA1, SRSF12, SYNCRIP, TBX18, TBX18-AS1, TSG1, UBE2J1, UFL1, UFL1-AS1, ZNF292 | | See cases | Pathogenic (Dec 22, 2010) | 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, LOC107986532, 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, LYRM2, MAP3K7, MDN1, MDN1-AS1, MIR4464, NT5E, ORC3, PM20D2, PNRC1, 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, LOC107986532, 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, LYRM2, MAP3K7, MDN1, MDN1-AS1, MIR4464, MIR4643, ORC3, PM20D2, PNRC1, RARS2, RNGTT, RRAGD, SLC35A1, SMIM8, SPACA1, SRSF12, UBE2J1, ZNF292 | | See cases | Pathogenic (Jul 30, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr6:90048798-92805760
- GRCh38:
- Chr6:89339079-92096042
| ANKRD6, BACH2, CASC6, CASP8AP2, GJA10, LOC121132699, LOC121132700, LOC121740658, LOC123775382, LOC123775383, LOC123775384, LOC123775385, LOC126859738, LOC126859739, LOC126859740, LOC126859741, LOC126859742, LOC126859743, LOC126859744, LOC128772296, LOC128772297, LOC128772298, LOC128772299, LOC128772300, LOC128772301, LOC128772302, LOC128772303, LYRM2, MAP3K7, MDN1, MDN1-AS1, MIR4464, MIR4643, RRAGD, UBE2J1 | | See cases | Uncertain significance (Aug 26, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr6:90641517-92417354
- GRCh38:
- Chr6:89931798-91707636
| BACH2, CASC6, LOC121132699, LOC121132700, LOC123775384, LOC123775385, LOC126859740, LOC126859741, LOC126859742, LOC126859743, LOC126859744, LOC128772296, LOC128772297, LOC128772298, LOC128772299, LOC128772300, LOC128772301, LOC128772302, LOC128772303, MAP3K7, MIR4464, MIR4643 | | See cases | Uncertain significance (Nov 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr6:90776424-91281399
- GRCh38:
- Chr6:90066705-90571680
| BACH2, LOC121132699, LOC121132700, LOC123775384, LOC126859740, LOC126859741, LOC126859742, LOC126859743, LOC128772296, LOC128772297, LOC128772298, LOC128772299, LOC128772300, LOC128772301, LOC128772302, LOC128772303, MAP3K7, MIR4464 | | See cases | Uncertain significance (Apr 30, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr6:90776424-91289546
- GRCh38:
- Chr6:90066705-90579827
| BACH2, LOC121132699, LOC121132700, LOC123775384, LOC126859740, LOC126859741, LOC126859742, LOC126859743, LOC128772296, LOC128772297, LOC128772298, LOC128772299, LOC128772300, LOC128772301, LOC128772302, LOC128772303, MAP3K7, MIR4464 | | See cases | Uncertain significance (Jan 3, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr6:91226261
- GRCh38:
- Chr6:90516542
| MAP3K7 | V567I, V594I | Inborn genetic diseases | Uncertain significance (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91226286
- GRCh38:
- Chr6:90516567
| MAP3K7 | | not provided | Benign (Nov 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91226301
- GRCh38:
- Chr6:90516582
| MAP3K7 | S553R, S580R | not provided | Uncertain significance (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91226322
- GRCh38:
- Chr6:90516603
| MAP3K7 | | not provided | Likely benign (Apr 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91226334
- GRCh38:
- Chr6:90516615
| MAP3K7 | | not provided | Likely benign (Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91226361
- GRCh38:
- Chr6:90516642
| MAP3K7 | | not provided | Likely benign (Jul 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91226369
- GRCh38:
- Chr6:90516650
| MAP3K7 | E558K, E531K | not provided | Uncertain significance (Dec 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91226408
- GRCh38:
- Chr6:90516689
| MAP3K7 | | not provided | Likely benign (Aug 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91228203
- GRCh38:
- Chr6:90518484
| MAP3K7 | K508E, K535E | not provided | Uncertain significance (May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91228207
- GRCh38:
- Chr6:90518488
| MAP3K7 | | not provided | Likely benign (Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91228270
- GRCh38:
- Chr6:90518551
| MAP3K7 | | not provided | Likely benign (Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91228271
- GRCh38:
- Chr6:90518552
| MAP3K7 | P485L, P512L | Frontometaphyseal dysplasia 2, not provided | Conflicting interpretations of pathogenicity (Sep 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:91228423
- GRCh38:
- Chr6:90518704
| MAP3K7 | | not provided | Benign (Jun 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91228963
- GRCh38:
- Chr6:90519244
| MAP3K7 | | not provided | Benign (Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91228972
- GRCh38:
- Chr6:90519253
| MAP3K7 | | not provided | Uncertain significance (Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91229016
- GRCh38:
- Chr6:90519297
| MAP3K7 | | not provided | Likely benign (Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91229032
- GRCh38:
- Chr6:90519313
| MAP3K7 | N463S, N490S | not provided | Uncertain significance (Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91229055
- GRCh38:
- Chr6:90519336
| MAP3K7 | | not provided | Benign (Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91233129
- GRCh38:
- Chr6:90523410
| MAP3K7 | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91233377
- GRCh38:
- Chr6:90523658
| MAP3K7 | | not provided | Likely benign (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91233411
- GRCh38:
- Chr6:90523692
| MAP3K7 | P456L, P483L | not provided | Uncertain significance (Sep 4, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91233431
- GRCh38:
- Chr6:90523712
| MAP3K7 | | not provided | Likely benign (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91233446
- GRCh38:
- Chr6:90523727
| MAP3K7 | | not provided | Likely benign (Jun 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91233451
- GRCh38:
- Chr6:90523732
| MAP3K7 | P443T, P470T | not specified | Benign | no assertion criteria provided |
| - GRCh37:
- Chr6:91233477-91233491
- GRCh38:
- Chr6:90523758-90523772
| MAP3K7 | | not provided | Uncertain significance (Sep 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91233479
- GRCh38:
- Chr6:90523760
| MAP3K7 | | not provided | Likely benign (Jul 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91233502
- GRCh38:
- Chr6:90523783
| MAP3K7 | V426M, V453M | not provided | Uncertain significance (Aug 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91233512
- GRCh38:
- Chr6:90523793
| MAP3K7 | | not provided | Benign (Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91246007
- GRCh38:
- Chr6:90536288
| MAP3K7 | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91246047
- GRCh38:
- Chr6:90536328
| MAP3K7 | | Frontometaphyseal dysplasia 2 | Uncertain significance (Nov 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91246052
- GRCh38:
- Chr6:90536333
| MAP3K7 | | not provided | Uncertain significance (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91246061
- GRCh38:
- Chr6:90536342
| MAP3K7 | G424S, G451S | Frontometaphyseal dysplasia 2 | Uncertain significance (Jan 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91246102
- GRCh38:
- Chr6:90536383
| MAP3K7 | R410H, R437H | not provided | Benign (Sep 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91246120
- GRCh38:
- Chr6:90536401
| MAP3K7 | G404D, G431D | not provided | Likely benign (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91246130
- GRCh38:
- Chr6:90536411
| MAP3K7 | | not provided | Likely benign (Apr 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91254266-91254267
- GRCh38:
- Chr6:90544547-90544548
| MAP3K7 | | not provided | Uncertain significance (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91254268
- GRCh38:
- Chr6:90544549
| MAP3K7 | | not provided | Uncertain significance (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91254275
- GRCh38:
- Chr6:90544556
| MAP3K7 | I429M | not provided | Uncertain significance (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91254280
- GRCh38:
- Chr6:90544561
| MAP3K7 | V428I | not provided | Likely benign (Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91254281
- GRCh38:
- Chr6:90544562
| MAP3K7 | | not provided | Likely benign (Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91254283
- GRCh38:
- Chr6:90544564
| MAP3K7 | I427V | not provided | Benign (Aug 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91254306
- GRCh38:
- Chr6:90544587
| MAP3K7 | G419D | Inborn genetic diseases | Uncertain significance (Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91254314
- GRCh38:
- Chr6:90544595
| MAP3K7 | | not provided | Likely benign (Aug 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91254325
- GRCh38:
- Chr6:90544606
| MAP3K7 | R413C | not provided | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91254330
- GRCh38:
- Chr6:90544611
| MAP3K7 | G411D | not provided | Uncertain significance (May 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91254345
- GRCh38:
- Chr6:90544626
| MAP3K7 | S406C | not provided | Uncertain significance (Aug 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91254360-91254361
- GRCh38:
- Chr6:90544641-90544642
| MAP3K7 | | not provided | Benign (Oct 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91254365
- GRCh38:
- Chr6:90544646
| MAP3K7 | | not provided | Likely benign (Jan 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91256678
- GRCh38:
- Chr6:90546959
| MAP3K7 | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91256928
- GRCh38:
- Chr6:90547209
| MAP3K7 | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91256978
- GRCh38:
- Chr6:90547259
| MAP3K7 | | not provided | Uncertain significance (Jan 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91256990
- GRCh38:
- Chr6:90547271
| MAP3K7 | | not provided | Likely benign (Sep 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91256992
- GRCh38:
- Chr6:90547273
| MAP3K7 | I399V | not provided | Uncertain significance (Jul 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91257012
- GRCh38:
- Chr6:90547293
| MAP3K7 | M392T | Inborn genetic diseases | Uncertain significance (Jul 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91257012
- GRCh38:
- Chr6:90547293
| MAP3K7 | M392R | not provided | Uncertain significance (Oct 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91257022
- GRCh38:
- Chr6:90547303
| MAP3K7 | S389G | not provided | Uncertain significance (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91257024
- GRCh38:
- Chr6:90547305
| MAP3K7 | M388T | not provided | Uncertain significance (Dec 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91257028
- GRCh38:
- Chr6:90547309
| MAP3K7 | | not provided | Likely benign (Jul 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91257032
- GRCh38:
- Chr6:90547313
| MAP3K7 | | not provided | Uncertain significance (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91257039
- GRCh38:
- Chr6:90547320
| MAP3K7 | S383F | not provided | Uncertain significance (Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91257043
- GRCh38:
- Chr6:90547324
| MAP3K7 | T382A | Inborn genetic diseases | Uncertain significance (Oct 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91257048
- GRCh38:
- Chr6:90547329
| MAP3K7 | P380R | not provided | Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91257050
- GRCh38:
- Chr6:90547331
| MAP3K7 | L379F | not provided | Uncertain significance (Sep 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91257050
- GRCh38:
- Chr6:90547331
| MAP3K7 | | not provided | Likely benign (Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91257072
- GRCh38:
- Chr6:90547353
| MAP3K7 | R372H | not provided | Uncertain significance (Jan 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91257079
- GRCh38:
- Chr6:90547360
| MAP3K7 | A370T | Inborn genetic diseases | Uncertain significance (May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91257746
- GRCh38:
- Chr6:90548027
| MAP3K7 | | not provided | Benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91257757
- GRCh38:
- Chr6:90548038
| MAP3K7 | | not provided | Likely benign (May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91257777
- GRCh38:
- Chr6:90548058
| MAP3K7 | A357T | not provided | Uncertain significance (Sep 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91257781
- GRCh38:
- Chr6:90548062
| MAP3K7 | | not provided | Likely benign (Aug 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91257833
- GRCh38:
- Chr6:90548114
| MAP3K7 | V338G | not provided | Uncertain significance (Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91257860
- GRCh38:
- Chr6:90548141
| MAP3K7 | N329I | MAP3K7-related disorder | Uncertain significance (Aug 25, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr6:91257914
- GRCh38:
- Chr6:90548195
| MAP3K7 | | not provided | Likely benign (Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91258204
- GRCh38:
- Chr6:90548485
| MAP3K7 | | not provided | Benign (Jun 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91260116
- GRCh38:
- Chr6:90550397
| MAP3K7 | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91260179
- GRCh38:
- Chr6:90550460
| MAP3K7 | | not provided | Likely benign (Jul 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91260181
- GRCh38:
- Chr6:90550462
| MAP3K7 | | not provided | Uncertain significance (Jul 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91260262
- GRCh38:
- Chr6:90550543
| MAP3K7 | P292A | not provided | Uncertain significance (Oct 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91260271
- GRCh38:
- Chr6:90550552
| MAP3K7 | | not provided | Benign (Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91260285
- GRCh38:
- Chr6:90550566
| MAP3K7 | | Cardiospondylocarpofacial syndrome | Uncertain significance (Aug 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91260288
- GRCh38:
- Chr6:90550569
| MAP3K7 | | not provided | Benign (Apr 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91260288
- GRCh38:
- Chr6:90550569
| MAP3K7 | | not provided | Likely benign (Apr 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91260341
- GRCh38:
- Chr6:90550622
| MAP3K7 | | not provided | Benign (Jun 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91261583
- GRCh38:
- Chr6:90551864
| MAP3K7 | | not provided | Benign (Jun 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91261750
- GRCh38:
- Chr6:90552031
| MAP3K7 | | not provided | Likely benign (Nov 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91261752
- GRCh38:
- Chr6:90552033
| MAP3K7 | | not provided | Likely benign (May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91261758
- GRCh38:
- Chr6:90552039
| MAP3K7 | | not provided | Likely benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91261769
- GRCh38:
- Chr6:90552050
| MAP3K7 | R289Q | not provided | Uncertain significance (Jul 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91261783
- GRCh38:
- Chr6:90552064
| MAP3K7 | M284I | not provided | Likely benign (Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:91261815
- GRCh38:
- Chr6:90552096
| MAP3K7 | R274C | not provided | Conflicting interpretations of pathogenicity (Aug 9, 2022) | criteria provided, conflicting interpretations |