| - GRCh37:
- Chr1:73895566-73895579
- Chr6:157292076-157292079
| ARID1B | | not provided | Pathogenic (Feb 2, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr6:133858409-166289033
- GRCh38:
- Chr6:133537271-165875545
| ABRACL, ACAT2, ADAT2, ADGB, ADGB-DT, ADGRG6, AGPAT4, AGPAT4-IT1, AHI1, AHI1-DT, AIG1, AIRN, AKAP12, ALDH8A1, ARFGEF3, ARID1B, ARMT1, BCLAF1, C6orf118, CAHM, CCDC170, CCDC28A, CCDC28A-AS1, CITED2, CLDN20, CNKSR3, CT69, DKFZp451B082, DYNLT1, ECT2L, EPM2A, EPM2A-DT, ESR1, EZR, EZR-AS1, FBXO30, FBXO5, FILNC1, FNDC1, FNDC1-AS1, FNDC1-IT1, FUCA2, GINM1, GJE1, GRM1, GTF2H5, HBS1L, HEBP2, HECA, HIVEP2, HYMAI, IFNGR1, IGF2R, IL20RA, IL22RA2, IPCEF1, IYD, KATNA1, LATS1, LINC01010, LINC01277, LINC01312, LINC01625, LINC02524, LINC02529, LINC02539, LINC02840, LINC02865, LINC02901, LINC02919, LINC02941, LINC03002, LINC03004, LOC102723831, LOC102724152, LOC103352541, LOC105378052, LOC105378068, LOC105378098, LOC107403234, LOC108169207, LOC108281144, LOC108348020, LOC110121073, LOC110121075, LOC110121174, LOC110121225, LOC110121231, LOC111413038, LOC111413040, LOC111589214, LOC111828525, LOC111828526, LOC113146414, LOC113146415, LOC113146417, LOC113146418, LOC113146419, LOC113146422, LOC113146423, LOC113146426, LOC113174971, LOC113174972, LOC113174973, LOC114004398, LOC114827845, LOC115308161, LOC116183069, LOC116183070, LOC116183071, LOC116183072, LOC116183073, LOC116183074, LOC116183075, LOC116183076, LOC116183077, LOC121132708, LOC121132709, LOC121132710, LOC121132711, LOC121132712, LOC121132713, LOC121132714, LOC121132715, LOC121132716, LOC121740667, LOC121740668, LOC121740669, LOC121740670, LOC121740671, LOC121740672, LOC123864072, LOC123864073, LOC123864074, LOC123864075, LOC123864076, LOC123864077, LOC123864078, LOC123864079, LOC123864080, LOC123864081, LOC123864082, LOC123864083, LOC123864084, LOC123864085, LOC123864086, LOC123864087, LOC123864088, LOC123864089, LOC123864090, LOC123864091, LOC123864092, LOC123864093, LOC123864094, LOC123864095, LOC123864096, LOC123881324, LOC123881325, LOC123881326, LOC123881327, LOC123881328, LOC123881329, LOC123881330, LOC123881331, LOC123881332, LOC123881333, LOC123881334, LOC123881335, LOC123881336, LOC123881337, LOC123881338, LOC123881339, LOC123881340, LOC123881341, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, LOC123881348, LOC123881349, LOC123881350, LOC123881351, LOC123881352, LOC123881353, LOC123881354, LOC123881355, LOC123881356, LOC123881357, LOC123881358, LOC123881359, LOC123881360, LOC123881361, LOC124900217, LOC126859797, LOC126859798, LOC126859799, LOC126859800, LOC126859801, LOC126859802, LOC126859803, LOC126859804, LOC126859805, LOC126859806, LOC126859807, LOC126859808, LOC126859809, LOC126859810, LOC126859811, LOC126859812, LOC126859813, LOC126859814, LOC126859815, LOC126859816, LOC126859817, LOC126859818, LOC126859819, LOC126859820, LOC126859821, LOC126859822, LOC126859823, LOC126859824, LOC126859825, LOC126859826, LOC126859827, LOC126859828, LOC126859829, LOC126859830, LOC126859831, LOC126859832, LOC126859833, LOC126859834, LOC126859835, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC126859841, LOC126859842, LOC126859843, LOC126859844, LOC126859845, LOC126859846, LOC126859847, LOC126859848, LOC126859849, LOC126859850, LOC126859851, LOC126859852, LOC126859853, LOC126859854, LOC126859855, LOC126859856, LOC126859857, LOC126859858, LOC126859859, LOC126859860, LOC126859861, LOC126859862, LOC126859863, LOC126859864, LOC126859865, LOC126859866, LOC126859867, LOC126859868, LOC126859869, LOC126859870, LOC126859871, LOC126859872, LOC126859873, LOC126859874, LOC126859875, LOC126859876, LOC126859877, LOC126859878, LOC126859879, LOC126859880, LOC126859881, LOC126859882, LOC126859883, LOC126859884, LOC126859885, LOC126859886, LOC128092253, LOC128669075, LOC153910, LOC645967, LPA, LRP11, LTV1, LUADT1, MAP3K4, MAP3K4-AS1, MAP3K5, MAP3K5-AS1, MAP3K5-AS2, MAP7, MAS1, MEAT6, MIR1202, MIR12131, MIR1273C, MIR3145, MIR3662, MIR3668, MIR3692, MIR3918, MIR4465, MIR4466, MIR548A2, MIR7161, MRPL18, MTFR2, MTHFD1L, MTRF1L, MYB, MYCT1, NHEG1, NHSL1, NHSL1-AS1, NMBR, NOX3, NUP43, OLIG3, OPRM1, PACRG, PACRG-AS1, PACRG-AS2, PACRG-AS3, PBOV1, PCMT1, PDE10A, PDE7B, PDE7B-AS1, PERP, PEX3, PEX7, PHACTR2, PHACTR2-AS1, PLAGL1, PLEKHG1, PLG, PNLDC1, PPIL4, PPP1R14C, PRKN, QKI, RAB32, RAET1E, RAET1E-AS1, RAET1E-LRP11, RAET1G, RAET1L, REPS1, RGS17, RMND1, RSPH3, SAMD5, SASH1, SCAF8, SERAC1, SF3B5, SGK1, SHPRH, SIMALR, SLC22A1, SLC22A2, SLC22A3, SLC2A12, SLC35D3, SMIM28, SNORA116, SNORA20, SNORA29, SNORA98, SNORD28B, SNX9, SNX9-AS1, SOD2, SOD2-OT1, STX11, STXBP5, STXBP5-AS1, SUMO4, SYNE1, SYNE1-AS1, SYNJ2, SYNJ2-IT1, SYTL3, TAB2, TAB2-AS1, TAGAP, TAGAP-AS1, TARID, TBPL1, TCF21, TCP1, TFB1M, TIAM2, TMEM181, TMEM242, TNFAIP3, TRL-TAA1-1, TRQ-TTG4-1, TULP4, TXLNB, ULBP1, ULBP2, ULBP3, UST, UST-AS1, UST-AS2, UTRN, VIP, VTA1, WAKMAR2, WTAP, ZBTB2, ZC2HC1B, ZC3H12D, ZDHHC14 | | See cases | Pathogenic (Jun 4, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr6:141454127-169739666
- GRCh38:
- Chr6:141132990-169339571
| LOC126859854, LOC126859855, LOC126859856, LOC126859857, LOC126859858, LOC126859859, LOC126859860, LOC126859861, LOC126859862, LOC126859863, LOC126859864, LOC126859865, LOC126859866, LOC126859867, LOC126859868, LOC126859869, LOC126859870, LOC126859871, LOC126859872, LOC126859873, LOC126859874, LOC126859875, LOC126859876, LOC126859877, LOC126859878, LOC126859879, LOC126859880, LOC126859881, LOC126859882, LOC126859883, LOC126859884, LOC126859885, LOC126859886, LOC126859887, LOC126859888, LOC126859889, LOC126859890, LOC126859891, LOC126859892, LOC126859893, LOC126859894, LOC126859895, LOC126859896, LOC126859897, LOC126859898, LOC126859899, LOC126859900, LOC126859901, LOC126859902, LOC126859903, LOC126859904, LOC126859905, LOC126859906, LOC126859907, LOC126859908, LOC126859909, LOC153910, LOC441179, LOC645967, LOC729681, LPA, LRP11, LTV1, LUADT1, MAP3K4, MAP3K4-AS1, MAS1, MEAT6, MIR1202, MIR12131, MIR1273C, MIR1913, MIR3692, MIR3918, MIR3939, MIR4466, MIR7161, MPC1, MRPL18, MTHFD1L, MTRF1L, MYCT1, NMBR, NOX3, NUP43, OPRM1, PACRG, PACRG-AS1, PACRG-AS2, PACRG-AS3, PCMT1, PDE10A, PEX3, PHACTR2, PHACTR2-AS1, PLAGL1, PLEKHG1, PLG, PNLDC1, PPIL4, PPP1R14C, PRKN, PRR18, QKI, RAB32, RAET1E, RAET1E-AS1, RAET1E-LRP11, RAET1G, RAET1L, RAMACL, RGS17, RMND1, RNASET2, RPS6KA2, RPS6KA2-AS1, RPS6KA2-IT1, RSPH3, SAMD5, SASH1, SCAF8, SDIM1, SERAC1, SF3B5, SFT2D1, SHPRH, SLC22A1, SLC22A2, SLC22A3, SMOC2, SNORA116, SNORA20, SNORA29, SNORA98, SNORD28B, SNX9, SNX9-AS1, SOD2, SOD2-OT1, STX11, STXBP5, STXBP5-AS1, SUMO4, SYNE1, SYNE1-AS1, SYNJ2, SYNJ2-IT1, SYTL3, TAB2, TAB2-AS1, TAGAP, TAGAP-AS1, TBXT, TCP1, TFB1M, THBS2, THBS2-AS1, TIAM2, TMEM181, TMEM242, TRL-TAA1-1, TRQ-TTG4-1, TTLL2, TULP4, ULBP1, ULBP2, ULBP3, UNC93A, UST, UST-AS1, UST-AS2, UTRN, VIP, VTA1, WTAP, ZBTB2, ZC2HC1B, ZC3H12D, ZDHHC14, ACAT2, ADAT2, ADGB, ADGB-DT, ADGRG6, AFDN, AFDN-DT, AGPAT4, AGPAT4-IT1, AIG1, AIRN, AKAP12, ARID1B, ARMT1, C6orf118, CAHM, CCDC170, CCR6, CEP43, CLDN20, CNKSR3, DACT2, DKFZp451B082, DYNLT1, EPM2A, EPM2A-DT, ESR1, EZR, EZR-AS1, FBXO30, FBXO5, FNDC1, FNDC1-AS1, FNDC1-IT1, FRMD1, FUCA2, GINM1, GJE1, GPR31, GRM1, GTF2H5, HGC6.3, HIVEP2, HPAT5, HYMAI, IGF2R, IPCEF1, IYD, KATNA1, KIF25, KIF25-AS1, LATS1, LINC00473, LINC00602, LINC01277, LINC01558, LINC01615, LINC02487, LINC02529, LINC02538, LINC02544, LINC02840, LINC02901, LINC02919, LNCDAT, LOC100289495, LOC101929297, LOC101929420, LOC101929460, LOC102723831, LOC102724152, LOC102724357, LOC105378052, LOC105378068, LOC105378098, LOC105378123, LOC105378127, LOC105378137, LOC105378146, LOC107403234, LOC108254680, LOC108348020, LOC110121075, LOC110121225, LOC110121231, LOC111828525, LOC111828526, LOC113146419, LOC113146422, LOC113146423, LOC113146426, LOC113174971, LOC113174972, LOC113174973, LOC114004398, LOC114827845, LOC115308161, LOC116183075, LOC116183076, LOC116183077, LOC116183078, LOC121132709, LOC121132710, LOC121132711, LOC121132712, LOC121132713, LOC121132714, LOC121132715, LOC121132716, LOC121132717, LOC121132718, LOC121740668, LOC121740669, LOC121740670, LOC121740671, LOC121740672, LOC121740673, LOC121740674, LOC123864087, LOC123864088, LOC123864089, LOC123864090, LOC123864091, LOC123864092, LOC123864093, LOC123864094, LOC123864095, LOC123864096, LOC123881324, LOC123881325, LOC123881326, LOC123881327, LOC123881328, LOC123881329, LOC123881330, LOC123881331, LOC123881332, LOC123881333, LOC123881334, LOC123881335, LOC123881336, LOC123881337, LOC123881338, LOC123881339, LOC123881340, LOC123881341, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, LOC123881348, LOC123881349, LOC123881350, LOC123881351, LOC123881352, LOC123881353, LOC123881354, LOC123881355, LOC123881356, LOC123881357, LOC123881358, LOC123881359, LOC123881360, LOC123881361, LOC123881362, LOC123881363, LOC123881364, LOC123881365, LOC123881366, LOC123881367, LOC123881368, LOC123881369, LOC123881370, LOC126859812, LOC126859813, LOC126859814, LOC126859815, LOC126859816, LOC126859817, LOC126859818, LOC126859819, LOC126859820, LOC126859821, LOC126859822, LOC126859823, LOC126859824, LOC126859825, LOC126859826, LOC126859827, LOC126859828, LOC126859829, LOC126859830, LOC126859831, LOC126859832, LOC126859833, LOC126859834, LOC126859835, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC126859841, LOC126859842, LOC126859843, LOC126859844, LOC126859845, LOC126859846, LOC126859847, LOC126859848, LOC126859849, LOC126859850, LOC126859851, LOC126859852, LOC126859853 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr6:150702375-159974984
- GRCh38:
- Chr6:150381239-159553952
| AKAP12, ARID1B, ARMT1, CCDC170, CLDN20, CNKSR3, DYNLT1, ESR1, EZR, EZR-AS1, FBXO5, FNDC1, FNDC1-AS1, FNDC1-IT1, GTF2H5, IPCEF1, IYD, LINC02529, LINC02840, LINC02901, LOC102723831, LOC105378068, LOC108348020, LOC111828526, LOC113146426, LOC114827845, LOC115308161, LOC116183076, LOC116183077, LOC121132711, LOC121132712, LOC121740671, LOC121740672, LOC123881335, LOC123881336, LOC123881337, LOC123881338, LOC123881339, LOC123881340, LOC123881341, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, LOC123881348, LOC123881349, LOC123881350, LOC123881351, LOC123881352, LOC123881353, LOC126859829, LOC126859830, LOC126859831, LOC126859832, LOC126859833, LOC126859834, LOC126859835, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC126859841, LOC126859842, LOC126859843, LOC126859844, LOC126859845, LOC126859846, LOC126859847, LOC126859848, LOC126859849, LOC126859850, LOC126859851, LOC126859852, LOC126859853, MIR1202, MIR12131, MIR1273C, MIR3692, MIR3918, MIR4466, MIR7161, MTHFD1L, MTRF1L, MYCT1, NOX3, OPRM1, PLEKHG1, RGS17, RMND1, RSPH3, SCAF8, SERAC1, SNORA116, SNORD28B, SNX9, SNX9-AS1, SYNE1, SYNE1-AS1, SYNJ2, SYNJ2-IT1, SYTL3, TAGAP, TAGAP-AS1, TFB1M, TIAM2, TMEM181, TMEM242, TULP4, VIP, ZBTB2, ZDHHC14 | | See cases | Pathogenic (Sep 21, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr6:152697473-170921089
- GRCh38:
- Chr6:152376338-170612001
| ACAT2, AFDN, AFDN-DT, AGPAT4, AGPAT4-IT1, AIRN, ARID1B, C6orf118, C6orf120, CAHM, CCR6, CEP43, CLDN20, CNKSR3, DACT2, DKFZp451B082, DLL1, DYNLT1, DYNLT2, ERMARD, EZR, EZR-AS1, FAM120B, FBXO5, FNDC1, FNDC1-AS1, FNDC1-IT1, FRMD1, GPR31, GTF2H5, HGC6.3, HPAT5, IGF2R, IPCEF1, KIF25, KIF25-AS1, LINC00242, LINC00473, LINC00574, LINC00602, LINC01558, LINC01615, LINC01624, LINC02487, LINC02519, LINC02529, LINC02538, LINC02544, LINC02840, LINC02901, LNCDAT, LOC100131532, LOC100289495, LOC101929297, LOC101929420, LOC101929460, LOC102724152, LOC102724357, LOC102724511, LOC105378068, LOC105378098, LOC105378123, LOC105378127, LOC105378137, LOC105378146, LOC108254680, LOC108663996, LOC110121051, LOC110121075, LOC110121231, LOC113174971, LOC113174972, LOC113174973, LOC114827845, LOC115308161, LOC116183076, LOC116183077, LOC116183078, LOC121132711, LOC121132712, LOC121132713, LOC121132714, LOC121132715, LOC121132716, LOC121132717, LOC121132718, LOC121740671, LOC121740672, LOC121740673, LOC121740674, LOC123881339, LOC123881340, LOC123881341, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, LOC123881348, LOC123881349, LOC123881350, LOC123881351, LOC123881352, LOC123881353, LOC123881354, LOC123881355, LOC123881356, LOC123881357, LOC123881358, LOC123881359, LOC123881360, LOC123881361, LOC123881362, LOC123881363, LOC123881364, LOC123881365, LOC123881366, LOC123881367, LOC123881368, LOC123881369, LOC123881370, LOC123881371, LOC126859838, LOC126859839, LOC126859840, LOC126859841, LOC126859842, LOC126859843, LOC126859844, LOC126859845, LOC126859846, LOC126859847, LOC126859848, LOC126859849, LOC126859850, LOC126859851, LOC126859852, LOC126859853, LOC126859854, LOC126859855, LOC126859856, LOC126859857, LOC126859858, LOC126859859, LOC126859860, LOC126859861, LOC126859862, LOC126859863, LOC126859864, LOC126859865, LOC126859866, LOC126859867, LOC126859868, LOC126859869, LOC126859870, LOC126859871, LOC126859872, LOC126859873, LOC126859874, LOC126859875, LOC126859876, LOC126859877, LOC126859878, LOC126859879, LOC126859880, LOC126859881, LOC126859882, LOC126859883, LOC126859884, LOC126859885, LOC126859886, LOC126859887, LOC126859888, LOC126859889, LOC126859890, LOC126859891, LOC126859892, LOC126859893, LOC126859894, LOC126859895, LOC126859896, LOC126859897, LOC126859898, LOC126859899, LOC126859900, LOC126859901, LOC126859902, LOC126859903, LOC126859904, LOC126859905, LOC126859906, LOC126859907, LOC126859908, LOC126859909, LOC126859910, LOC126859911, LOC126859912, LOC126859913, LOC126859914, LOC126859915, LOC154449, LOC285804, LOC441179, LOC729681, LPA, MAP3K4, MAP3K4-AS1, MAS1, MEAT6, MIR1202, MIR1273C, MIR1913, MIR3692, MIR3918, MIR3939, MIR4466, MIR4644, MIR7161, MPC1, MRPL18, MTRF1L, MYCT1, NOX3, OPRM1, PACRG, PACRG-AS1, PACRG-AS2, PACRG-AS3, PDCD2, PDE10A, PHF10, PLG, PNLDC1, PRKN, PRR18, PSMB1, QKI, RAMACL, RGS17, RNASET2, RPS6KA2, RPS6KA2-AS1, RPS6KA2-IT1, RSPH3, SCAF8, SDIM1, SERAC1, SFT2D1, SLC22A1, SLC22A2, SLC22A3, SMOC2, SNORA116, SNORA20, SNORA29, SNORD28B, SNX9, SNX9-AS1, SOD2, SOD2-OT1, SYNE1, SYNE1-AS1, SYNJ2, SYNJ2-IT1, SYTL3, TAGAP, TAGAP-AS1, TBP, TBXT, TCP1, TFB1M, THBS2, THBS2-AS1, TIAM2, TMEM181, TMEM242, TTLL2, TULP4, UNC93A, VIP, WDR27, WTAP, ZDHHC14 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr6:153114537-170919482
- GRCh38:
- Chr6:152793402-170610394
| ACAT2, AFDN, AFDN-DT, AGPAT4, AGPAT4-IT1, AIRN, ARID1B, C6orf118, C6orf120, CAHM, CCR6, CEP43, CLDN20, CNKSR3, DACT2, DKFZp451B082, DLL1, DYNLT1, DYNLT2, ERMARD, EZR, EZR-AS1, FAM120B, FBXO5, FNDC1, FNDC1-AS1, FNDC1-IT1, FRMD1, GPR31, GTF2H5, HGC6.3, HPAT5, IGF2R, IPCEF1, KIF25, KIF25-AS1, LINC00242, LINC00473, LINC00574, LINC00602, LINC01558, LINC01615, LINC01624, LINC02487, LINC02519, LINC02529, LINC02538, LINC02544, LINC02840, LINC02901, LNCDAT, LOC100131532, LOC100289495, LOC101929297, LOC101929420, LOC101929460, LOC102724152, LOC102724357, LOC102724511, LOC105378068, LOC105378098, LOC105378123, LOC105378127, LOC105378137, LOC105378146, LOC108254680, LOC108663996, LOC110121051, LOC110121075, LOC110121231, LOC113174971, LOC113174972, LOC113174973, LOC114827845, LOC115308161, LOC116183076, LOC116183077, LOC116183078, LOC121132711, LOC121132712, LOC121132713, LOC121132714, LOC121132715, LOC121132716, LOC121132717, LOC121132718, LOC121740671, LOC121740672, LOC121740673, LOC121740674, LOC123881339, LOC123881340, LOC123881341, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, LOC123881348, LOC123881349, LOC123881350, LOC123881351, LOC123881352, LOC123881353, LOC123881354, LOC123881355, LOC123881356, LOC123881357, LOC123881358, LOC123881359, LOC123881360, LOC123881361, LOC123881362, LOC123881363, LOC123881364, LOC123881365, LOC123881366, LOC123881367, LOC123881368, LOC123881369, LOC123881370, LOC123881371, LOC126859841, LOC126859842, LOC126859843, LOC126859844, LOC126859845, LOC126859846, LOC126859847, LOC126859848, LOC126859849, LOC126859850, LOC126859851, LOC126859852, LOC126859853, LOC126859854, LOC126859855, LOC126859856, LOC126859857, LOC126859858, LOC126859859, LOC126859860, LOC126859861, LOC126859862, LOC126859863, LOC126859864, LOC126859865, LOC126859866, LOC126859867, LOC126859868, LOC126859869, LOC126859870, LOC126859871, LOC126859872, LOC126859873, LOC126859874, LOC126859875, LOC126859876, LOC126859877, LOC126859878, LOC126859879, LOC126859880, LOC126859881, LOC126859882, LOC126859883, LOC126859884, LOC126859885, LOC126859886, LOC126859887, LOC126859888, LOC126859889, LOC126859890, LOC126859891, LOC126859892, LOC126859893, LOC126859894, LOC126859895, LOC126859896, LOC126859897, LOC126859898, LOC126859899, LOC126859900, LOC126859901, LOC126859902, LOC126859903, LOC126859904, LOC126859905, LOC126859906, LOC126859907, LOC126859908, LOC126859909, LOC126859910, LOC126859911, LOC126859912, LOC126859913, LOC126859914, LOC126859915, LOC154449, LOC285804, LOC441179, LOC729681, LPA, MAP3K4, MAP3K4-AS1, MAS1, MEAT6, MIR1202, MIR1273C, MIR1913, MIR3692, MIR3918, MIR3939, MIR4466, MIR4644, MIR7161, MPC1, MRPL18, MTRF1L, NOX3, OPRM1, PACRG, PACRG-AS1, PACRG-AS2, PACRG-AS3, PDCD2, PDE10A, PHF10, PLG, PNLDC1, PRKN, PRR18, PSMB1, QKI, RAMACL, RGS17, RNASET2, RPS6KA2, RPS6KA2-AS1, RPS6KA2-IT1, RSPH3, SCAF8, SDIM1, SERAC1, SFT2D1, SLC22A1, SLC22A2, SLC22A3, SMOC2, SNORA116, SNORA20, SNORA29, SNORD28B, SNX9, SNX9-AS1, SOD2, SOD2-OT1, SYNJ2, SYNJ2-IT1, SYTL3, TAGAP, TAGAP-AS1, TBP, TBXT, TCP1, TFB1M, THBS2, THBS2-AS1, TIAM2, TMEM181, TMEM242, TTLL2, TULP4, UNC93A, WDR27, WTAP, ZDHHC14 | | See cases | Pathogenic (Jul 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr6:154439193-170911240
- GRCh38:
- Chr6:154118058-170602152
| ACAT2, AFDN, AFDN-DT, AGPAT4, AGPAT4-IT1, AIRN, ARID1B, C6orf118, C6orf120, CAHM, CCR6, CEP43, CLDN20, CNKSR3, DACT2, DKFZp451B082, DLL1, DYNLT1, DYNLT2, ERMARD, EZR, EZR-AS1, FAM120B, FNDC1, FNDC1-AS1, FNDC1-IT1, FRMD1, GPR31, GTF2H5, HGC6.3, HPAT5, IGF2R, IPCEF1, KIF25, KIF25-AS1, LINC00242, LINC00473, LINC00574, LINC00602, LINC01558, LINC01615, LINC01624, LINC02487, LINC02519, LINC02529, LINC02538, LINC02544, LINC02901, LNCDAT, LOC100131532, LOC100289495, LOC101929297, LOC101929420, LOC101929460, LOC102724152, LOC102724357, LOC102724511, LOC105378068, LOC105378098, LOC105378123, LOC105378127, LOC105378137, LOC105378146, LOC108254680, LOC108663996, LOC110121051, LOC110121075, LOC110121231, LOC113174971, LOC113174972, LOC113174973, LOC114827845, LOC115308161, LOC116183076, LOC116183077, LOC116183078, LOC121132711, LOC121132712, LOC121132713, LOC121132714, LOC121132715, LOC121132716, LOC121132717, LOC121132718, LOC121740671, LOC121740672, LOC121740673, LOC121740674, LOC123881339, LOC123881340, LOC123881341, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, LOC123881348, LOC123881349, LOC123881350, LOC123881351, LOC123881352, LOC123881353, LOC123881354, LOC123881355, LOC123881356, LOC123881357, LOC123881358, LOC123881359, LOC123881360, LOC123881361, LOC123881362, LOC123881363, LOC123881364, LOC123881365, LOC123881366, LOC123881367, LOC123881368, LOC123881369, LOC123881370, LOC123881371, LOC126859841, LOC126859842, LOC126859843, LOC126859844, LOC126859845, LOC126859846, LOC126859847, LOC126859848, LOC126859849, LOC126859850, LOC126859851, LOC126859852, LOC126859853, LOC126859854, LOC126859855, LOC126859856, LOC126859857, LOC126859858, LOC126859859, LOC126859860, LOC126859861, LOC126859862, LOC126859863, LOC126859864, LOC126859865, LOC126859866, LOC126859867, LOC126859868, LOC126859869, LOC126859870, LOC126859871, LOC126859872, LOC126859873, LOC126859874, LOC126859875, LOC126859876, LOC126859877, LOC126859878, LOC126859879, LOC126859880, LOC126859881, LOC126859882, LOC126859883, LOC126859884, LOC126859885, LOC126859886, LOC126859887, LOC126859888, LOC126859889, LOC126859890, LOC126859891, LOC126859892, LOC126859893, LOC126859894, LOC126859895, LOC126859896, LOC126859897, LOC126859898, LOC126859899, LOC126859900, LOC126859901, LOC126859902, LOC126859903, LOC126859904, LOC126859905, LOC126859906, LOC126859907, LOC126859908, LOC126859909, LOC126859910, LOC126859911, LOC126859912, LOC126859913, LOC126859914, LOC126859915, LOC154449, LOC285804, LOC441179, LOC729681, LPA, MAP3K4, MAP3K4-AS1, MAS1, MEAT6, MIR1202, MIR1273C, MIR1913, MIR3692, MIR3918, MIR3939, MIR4466, MIR4644, MIR7161, MPC1, MRPL18, NOX3, OPRM1, PACRG, PACRG-AS1, PACRG-AS2, PACRG-AS3, PDCD2, PDE10A, PHF10, PLG, PNLDC1, PRKN, PRR18, PSMB1, QKI, RAMACL, RNASET2, RPS6KA2, RPS6KA2-AS1, RPS6KA2-IT1, RSPH3, SCAF8, SDIM1, SERAC1, SFT2D1, SLC22A1, SLC22A2, SLC22A3, SMOC2, SNORA116, SNORA20, SNORA29, SNORD28B, SNX9, SNX9-AS1, SOD2, SOD2-OT1, SYNJ2, SYNJ2-IT1, SYTL3, TAGAP, TAGAP-AS1, TBP, TBXT, TCP1, TFB1M, THBS2, THBS2-AS1, TIAM2, TMEM181, TMEM242, TTLL2, TULP4, UNC93A, WDR27, WTAP, ZDHHC14 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr6:154500098-159441401
- GRCh38:
- Chr6:154178964-159020369
| ARID1B, CLDN20, CNKSR3, DYNLT1, EZR, EZR-AS1, GTF2H5, IPCEF1, LINC02901, LOC105378068, LOC115308161, LOC116183076, LOC116183077, LOC121132711, LOC121132712, LOC121740671, LOC123881339, LOC123881340, LOC123881341, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, LOC123881348, LOC123881349, LOC123881350, LOC123881351, LOC123881352, LOC123881353, LOC126859841, LOC126859842, LOC126859843, LOC126859844, LOC126859845, LOC126859846, LOC126859847, LOC126859848, LOC126859849, LOC126859850, LOC126859851, LOC126859852, MIR1202, MIR1273C, MIR3692, MIR3918, MIR4466, MIR7161, NOX3, OPRM1, RSPH3, SCAF8, SERAC1, SNORA116, SNORD28B, SNX9, SNX9-AS1, SYNJ2, SYNJ2-IT1, SYTL3, TAGAP-AS1, TFB1M, TIAM2, TMEM181, TMEM242, TULP4, ZDHHC14 | | See cases | Likely pathogenic (Dec 13, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr6:154860789-171023595
- GRCh38:
- Chr6:154539655-170714507
| ACAT2, AFDN, AFDN-DT, AGPAT4, AGPAT4-IT1, AIRN, ARID1B, C6orf118, C6orf120, CAHM, CCR6, CEP43, CLDN20, DACT2, DKFZp451B082, DLL1, DYNLT1, DYNLT2, ERMARD, EZR, EZR-AS1, FAM120B, FNDC1, FNDC1-AS1, FNDC1-IT1, FRMD1, GPR31, GTF2H5, HGC6.3, HPAT5, IGF2R, KIF25, KIF25-AS1, LINC00242, LINC00473, LINC00574, LINC00602, LINC01558, LINC01615, LINC01624, LINC02487, LINC02519, LINC02529, LINC02538, LINC02544, LINC02901, LNCDAT, LOC100131532, LOC100289495, LOC101929297, LOC101929420, LOC101929460, LOC101929692, LOC102724152, LOC102724357, LOC102724511, LOC105378068, LOC105378098, LOC105378123, LOC105378127, LOC105378137, LOC105378146, LOC108254680, LOC108663996, LOC110121051, LOC110121075, LOC110121231, LOC113174971, LOC113174972, LOC113174973, LOC114827845, LOC115308161, LOC116183077, LOC116183078, LOC121132711, LOC121132712, LOC121132713, LOC121132714, LOC121132715, LOC121132716, LOC121132717, LOC121132718, LOC121740671, LOC121740672, LOC121740673, LOC121740674, LOC123881340, LOC123881341, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, LOC123881348, LOC123881349, LOC123881350, LOC123881351, LOC123881352, LOC123881353, LOC123881354, LOC123881355, LOC123881356, LOC123881357, LOC123881358, LOC123881359, LOC123881360, LOC123881361, LOC123881362, LOC123881363, LOC123881364, LOC123881365, LOC123881366, LOC123881367, LOC123881368, LOC123881369, LOC123881370, LOC123881371, LOC126859841, LOC126859842, LOC126859843, LOC126859844, LOC126859845, LOC126859846, LOC126859847, LOC126859848, LOC126859849, LOC126859850, LOC126859851, LOC126859852, LOC126859853, LOC126859854, LOC126859855, LOC126859856, LOC126859857, LOC126859858, LOC126859859, LOC126859860, LOC126859861, LOC126859862, LOC126859863, LOC126859864, LOC126859865, LOC126859866, LOC126859867, LOC126859868, LOC126859869, LOC126859870, LOC126859871, LOC126859872, LOC126859873, LOC126859874, LOC126859875, LOC126859876, LOC126859877, LOC126859878, LOC126859879, LOC126859880, LOC126859881, LOC126859882, LOC126859883, LOC126859884, LOC126859885, LOC126859886, LOC126859887, LOC126859888, LOC126859889, LOC126859890, LOC126859891, LOC126859892, LOC126859893, LOC126859894, LOC126859895, LOC126859896, LOC126859897, LOC126859898, LOC126859899, LOC126859900, LOC126859901, LOC126859902, LOC126859903, LOC126859904, LOC126859905, LOC126859906, LOC126859907, LOC126859908, LOC126859909, LOC126859910, LOC126859911, LOC126859912, LOC126859913, LOC126859914, LOC126859915, LOC154449, LOC285804, LOC441179, LOC729681, LPA, MAP3K4, MAP3K4-AS1, MAS1, MEAT6, MIR1202, MIR1273C, MIR1913, MIR3692, MIR3918, MIR3939, MIR4466, MIR4644, MIR7161, MPC1, MRPL18, NOX3, PACRG, PACRG-AS1, PACRG-AS2, PACRG-AS3, PDCD2, PDE10A, PHF10, PLG, PNLDC1, PRKN, PRR18, PSMB1, QKI, RAMACL, RNASET2, RPS6KA2, RPS6KA2-AS1, RPS6KA2-IT1, RSPH3, SCAF8, SDIM1, SERAC1, SFT2D1, SLC22A1, SLC22A2, SLC22A3, SMOC2, SNORA116, SNORA20, SNORA29, SNORD28B, SNX9, SNX9-AS1, SOD2, SOD2-OT1, SYNJ2, SYNJ2-IT1, SYTL3, TAGAP, TAGAP-AS1, TBP, TBXT, TCP1, TFB1M, THBS2, THBS2-AS1, TIAM2, TMEM181, TMEM242, TTLL2, TULP4, UNC93A, WDR27, WTAP, ZDHHC14 | | See cases | Pathogenic (Apr 14, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr6:155699183-163554531
- GRCh38:
- Chr6:155378049-163133499
| ACAT2, AGPAT4, AGPAT4-IT1, AIRN, ARID1B, DYNLT1, EZR, EZR-AS1, FNDC1, FNDC1-AS1, FNDC1-IT1, GTF2H5, IGF2R, LINC02529, LINC02901, LOC105378068, LOC105378098, LOC110121075, LOC113174971, LOC113174972, LOC114827845, LOC115308161, LOC116183077, LOC121132711, LOC121132712, LOC121132713, LOC121132714, LOC121740671, LOC121740672, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, LOC123881348, LOC123881349, LOC123881350, LOC123881351, LOC123881352, LOC123881353, LOC123881354, LOC123881355, LOC123881356, LOC123881357, LOC123881358, LOC126859844, LOC126859845, LOC126859846, LOC126859847, LOC126859848, LOC126859849, LOC126859850, LOC126859851, LOC126859852, LOC126859853, LOC126859854, LOC126859855, LOC126859856, LOC126859857, LOC126859858, LOC126859859, LOC126859860, LOC126859861, LOC126859862, LOC126859863, LOC126859864, LOC126859865, LOC126859866, LOC126859867, LOC126859868, LOC126859869, LOC126859870, LOC126859871, LOC126859872, LPA, MAP3K4, MAP3K4-AS1, MAS1, MIR1202, MIR3692, MIR3918, MIR4466, MIR7161, MRPL18, NOX3, PACRG, PACRG-AS2, PLG, PNLDC1, PRKN, RSPH3, SERAC1, SLC22A1, SLC22A2, SLC22A3, SNORA116, SNORA20, SNORA29, SNORD28B, SNX9, SNX9-AS1, SOD2, SOD2-OT1, SYNJ2, SYNJ2-IT1, SYTL3, TAGAP, TAGAP-AS1, TCP1, TMEM181, TMEM242, TULP4, WTAP, ZDHHC14 | | See cases | Pathogenic (Oct 7, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr6:156190384-157120089
- GRCh38:
- Chr6:155869250-156798955
| ARID1B, LOC115308161, LOC123881342, LOC123881343, MIR1202, MIR4466, SNORD28B | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr6:156549545-157430123
- GRCh38:
- Chr6:156228411-157108989
| ARID1B, LOC115308161, LOC123881342, LOC123881343, LOC123881344, MIR4466, SNORD28B | | See cases | Likely pathogenic (Sep 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:156674766-157968773
- GRCh38:
- Chr6:156353632-157547741
| ARID1B, LOC115308161, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, MIR3692, MIR4466, SNORD28B, TMEM242, ZDHHC14 | | See cases | Likely benign (Oct 10, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr6:156674766-157870814
- GRCh38:
- Chr6:156353632-157449782
| ARID1B, LOC115308161, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, MIR4466, SNORD28B, TMEM242, ZDHHC14 | | See cases | Pathogenic (Sep 16, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr6:156674766-157968714
- GRCh38:
- Chr6:156353632-157547682
| ARID1B, LOC115308161, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, MIR3692, MIR4466, SNORD28B, TMEM242, ZDHHC14 | | See cases | Uncertain significance (Nov 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr6:157098826-157098827
- GRCh38:
- Chr6:156777692-156777693
| ARID1B, LOC115308161 | | not provided | Benign (Nov 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157098832-157098833
- GRCh38:
- Chr6:156777698-156777699
| ARID1B, LOC115308161 | | not provided | Likely benign (Sep 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157098853-157098864
- GRCh38:
- Chr6:156777719-156777730
| ARID1B, LOC115308161 | | not provided | Benign (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099013
- GRCh38:
- Chr6:156777879
| ARID1B, LOC115308161 | G67S | not provided | Benign (Aug 31, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099024
- GRCh38:
- Chr6:156777890
| ARID1B, LOC115308161 | S70R | not provided | Benign (Jan 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099061
- GRCh38:
- Chr6:156777927
| ARID1B, LOC115308161 | N83D | not specified | Uncertain significance (Jun 29, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099067
- GRCh38:
- Chr6:156777933
| ARID1B, LOC115308161 | A85S | Coffin-Siris syndrome 1 | Uncertain significance (Aug 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099070
- GRCh38:
- Chr6:156777936
| ARID1B, LOC115308161 | H3Y, H86Y | not provided | Uncertain significance (Oct 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:157099074-157099075
- GRCh38:
- Chr6:156777940-156777941
| ARID1B, LOC115308161 | | Inborn genetic diseases, not specified, not provided
| Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:157099080
- GRCh38:
- Chr6:156777946
| ARID1B, LOC115308161 | G6D, G89D | ARID1B-related BAFopathy | Likely pathogenic (Jun 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099083
- GRCh38:
- Chr6:156777949
| LOC115308161, ARID1B | A7V, A90V | not provided | Benign (Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099085
- GRCh38:
- Chr6:156777951
| ARID1B, LOC115308161 | A8P, A91P | Inborn genetic diseases | Uncertain significance (Sep 6, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099088
- GRCh38:
- Chr6:156777954
| ARID1B, LOC115308161 | A92T | not provided | Benign (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099097
- GRCh38:
- Chr6:156777963
| ARID1B, LOC115308161 | G12S, G95S | not specified | Likely benign (Feb 4, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099106
- GRCh38:
- Chr6:156777972
| ARID1B, LOC115308161 | S15G, S98G | Inborn genetic diseases, Coffin-Siris syndrome 1 | Uncertain significance (Sep 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:157099109
- GRCh38:
- Chr6:156777975
| ARID1B, LOC115308161 | A16T, A99T | not provided | Uncertain significance (Aug 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099114
- GRCh38:
- Chr6:156777980
| LOC115308161, ARID1B | K100N | not provided | Likely benign (Dec 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099117
- GRCh38:
- Chr6:156777983
| ARID1B, LOC115308161 | S101R, S18R | not provided | Uncertain significance (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099118
- GRCh38:
- Chr6:156777984
| ARID1B, LOC115308161 | G19R, G102R | Inborn genetic diseases | Likely benign (Aug 18, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099120
- GRCh38:
- Chr6:156777986
| LOC115308161, ARID1B | | not provided | Likely benign (Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099125
- GRCh38:
- Chr6:156777991
| ARID1B, LOC115308161 | S21C, S104C | Inborn genetic diseases | Uncertain significance (Dec 19, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099126
- GRCh38:
- Chr6:156777992
| ARID1B, LOC115308161 | | Inborn genetic diseases | Likely benign (Mar 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099127
- GRCh38:
- Chr6:156777993
| LOC115308161, ARID1B | E105K, E22K | not provided | Benign (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099127-157099137
- GRCh38:
- Chr6:156777993-156778003
| LOC115308161, ARID1B | E105fs | not provided | Pathogenic (Oct 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099132
- GRCh38:
- Chr6:156777998
| LOC115308161, ARID1B | | not specified, Coffin-Siris syndrome 1, Inborn genetic diseases, not provided | Benign/Likely benign (Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:157099139-157099141
- GRCh38:
- Chr6:156778005-156778007
| ARID1B, LOC115308161 | K109del, K26del | not provided | Uncertain significance (Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099139
- GRCh38:
- Chr6:156778005
| ARID1B, LOC115308161 | K26Q, K109Q | Inborn genetic diseases, not provided | Uncertain significance (Jul 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:157099144
- GRCh38:
- Chr6:156778010
| LOC115308161, ARID1B | E110D, E27D | not provided | Likely benign (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099158
- GRCh38:
- Chr6:156778024
| ARID1B, LOC115308161 | A115G | not provided | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099161
- GRCh38:
- Chr6:156778027
| ARID1B, LOC115308161 | A116V | not specified | Uncertain significance (Apr 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099164
- GRCh38:
- Chr6:156778030
| ARID1B, LOC115308161 | L117P | not provided | Likely benign (Sep 12, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099165-157099166
- GRCh38:
- Chr6:156778031-156778032
| LOC115308161, ARID1B | | not provided | Conflicting interpretations of pathogenicity (Aug 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:157099165-157099166
- GRCh38:
- Chr6:156778031-156778032
| ARID1B, LOC115308161 | | Inborn genetic diseases, not provided, not specified
| Benign/Likely benign (Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:157099166-157099168
- GRCh38:
- Chr6:156778032-156778034
| ARID1B, LOC115308161 | S124del | not provided, Inborn genetic diseases, not specified
| Conflicting interpretations of pathogenicity (Aug 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:157099179
- GRCh38:
- Chr6:156778045
| ARID1B, LOC115308161 | S122F, S39F | not provided | Likely benign (Oct 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099182
- GRCh38:
- Chr6:156778048
| ARID1B, LOC115308161 | S123C, S40C | not provided | Uncertain significance (Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099183
- GRCh38:
- Chr6:156778049
| ARID1B, LOC115308161 | | not specified | Likely benign (Nov 9, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099186-157099187
- GRCh38:
- Chr6:156778052-156778053
| ARID1B, LOC115308161 | | not provided | Likely benign (Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:157099187-157099195
- GRCh38:
- Chr6:156778053-156778061
| ARID1B, LOC115308161 | | not provided, Inborn genetic diseases | Benign/Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:157099195
- GRCh38:
- Chr6:156778061
| ARID1B, LOC115308161 | | Inborn genetic diseases, not provided | Likely benign (Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:157099196
- GRCh38:
- Chr6:156778062
| ARID1B, LOC115308161 | A128T | Intellectual disability | Likely benign (Jan 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr6:157099202
- GRCh38:
- Chr6:156778068
| ARID1B, LOC115308161 | A47S, A130S | not provided | Uncertain significance (Oct 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099209
- GRCh38:
- Chr6:156778075
| ARID1B, LOC115308161 | S132F, S49F | Inborn genetic diseases, not provided | Likely benign (Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:157099213
- GRCh38:
- Chr6:156778079
| LOC115308161, ARID1B | | not provided | Likely benign (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099217
- GRCh38:
- Chr6:156778083
| LOC115308161, ARID1B | S135A, S52A | not provided | Uncertain significance (Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099221
- GRCh38:
- Chr6:156778087
| ARID1B, LOC115308161 | S136L | not provided | Conflicting interpretations of pathogenicity (Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:157099231
- GRCh38:
- Chr6:156778097
| LOC115308161, ARID1B | | not provided, Coffin-Siris syndrome 1, Inborn genetic diseases
| Conflicting interpretations of pathogenicity (Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:157099233
- GRCh38:
- Chr6:156778099
| LOC115308161, ARID1B | S140L, S57L | not provided | Uncertain significance (Aug 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099241
- GRCh38:
- Chr6:156778107
| ARID1B, LOC115308161 | E143Q, E2Q, E60Q | not provided | Uncertain significance (Aug 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099242
- GRCh38:
- Chr6:156778108
| ARID1B, LOC115308161 | E143G | not provided | Uncertain significance (Dec 16, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099246
- GRCh38:
- Chr6:156778112
| LOC115308161, ARID1B | | not provided | Likely benign (Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099260
- GRCh38:
- Chr6:156778126
| LOC115308161, ARID1B | N66S, N149S | not specified, Coffin-Siris syndrome 1, Inborn genetic diseases, not provided | Conflicting interpretations of pathogenicity (Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:157099270
- GRCh38:
- Chr6:156778136
| LOC115308161, ARID1B | | not provided | Likely benign (Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099295
- GRCh38:
- Chr6:156778161
| ARID1B, LOC115308161 | A161T | not provided | Uncertain significance (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099296
- GRCh38:
- Chr6:156778162
| ARID1B, LOC115308161 | A161V | Coffin-Siris syndrome 1 | Uncertain significance (Feb 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099307
- GRCh38:
- Chr6:156778173
| LOC115308161, ARID1B | Q165K, Q24K, Q82K | Inborn genetic diseases | Likely benign (Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099308
- GRCh38:
- Chr6:156778174
| ARID1B, LOC115308161 | Q24P, Q82P, Q165P | Inborn genetic diseases | Uncertain significance (Sep 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099312-157099313
- GRCh38:
- Chr6:156778178-156778179
| ARID1B, LOC115308161 | | not provided | Uncertain significance (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099312-157099313
- GRCh38:
- Chr6:156778178-156778179
| ARID1B, LOC115308161 | | not provided | Conflicting interpretations of pathogenicity (Apr 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:157099313-157099336
- GRCh38:
- Chr6:156778179-156778202
| LOC115308161, ARID1B | | not provided | Uncertain significance (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099313-157099339
- GRCh38:
- Chr6:156778179-156778205
| ARID1B, LOC115308161 | | not provided | Uncertain significance (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099313-157099333
- GRCh38:
- Chr6:156778179-156778199
| LOC115308161, ARID1B | | Inborn genetic diseases, not provided | Conflicting interpretations of pathogenicity (May 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:157099313-157099315
- GRCh38:
- Chr6:156778179-156778181
| ARID1B, LOC115308161 | H172del | Inborn genetic diseases, not provided | Conflicting interpretations of pathogenicity (Sep 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:157099314
- GRCh38:
- Chr6:156778180
| ARID1B, LOC115308161 | H167R, H84R, H26R | Inborn genetic diseases | Likely benign (Jan 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099315
- GRCh38:
- Chr6:156778181
| ARID1B, LOC115308161 | H167Q | not provided, Inborn genetic diseases | Conflicting interpretations of pathogenicity (Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:157099316
- GRCh38:
- Chr6:156778182
| ARID1B, LOC115308161 | H168N | not provided | Likely benign (Feb 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099317
- GRCh38:
- Chr6:156778183
| LOC115308161, ARID1B | H168R | not provided | Uncertain significance (Sep 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099325-157099351
- GRCh38:
- Chr6:156778191-156778217
| LOC115308161, ARID1B | | not provided | Uncertain significance (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099327
- GRCh38:
- Chr6:156778193
| LOC115308161, ARID1B | | not provided, Inborn genetic diseases | Likely benign (Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:157099328
- GRCh38:
- Chr6:156778194
| ARID1B, LOC115308161 | H172Y | not provided | Conflicting interpretations of pathogenicity (Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:157099329
- GRCh38:
- Chr6:156778195
| ARID1B, LOC115308161 | H172P | not provided | Likely benign (Aug 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099331-157099345
- GRCh38:
- Chr6:156778197-156778211
| ARID1B, LOC115308161 | | not provided | Uncertain significance (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099332-157099333
- GRCh38:
- Chr6:156778198-156778199
| LOC115308161, ARID1B | | not provided | Uncertain significance (Sep 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099332-157099333
- GRCh38:
- Chr6:156778198-156778199
| ARID1B, LOC115308161 | | not provided | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099333-157099338
- GRCh38:
- Chr6:156778199-156778204
| ARID1B, LOC115308161 | | not provided | Uncertain significance (Feb 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099333-157099335
- GRCh38:
- Chr6:156778199-156778201
| ARID1B, LOC115308161 | H179del | Inborn genetic diseases, not provided | Benign/Likely benign (Oct 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:157099339-157099362
- GRCh38:
- Chr6:156778205-156778228
| ARID1B, LOC115308161 | | not specified | Uncertain significance (Sep 23, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099341
- GRCh38:
- Chr6:156778207
| LOC115308161, ARID1B | H93L, H176L | not specified | Likely benign (May 9, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099342
- GRCh38:
- Chr6:156778208
| ARID1B, LOC115308161 | H176Q, H35Q, H93Q | not provided | Uncertain significance (Jun 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099349
- GRCh38:
- Chr6:156778215
| ARID1B, LOC115308161 | H179N | not provided, Coffin-Siris syndrome 1 | Conflicting interpretations of pathogenicity (Jun 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:157099356
- GRCh38:
- Chr6:156778222
| ARID1B, LOC115308161 | H181R | not provided | Uncertain significance (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099363-157099365
- GRCh38:
- Chr6:156778229-156778231
| ARID1B, LOC115308161 | H187del, H104del, H46del | Inborn genetic diseases | Likely benign (Dec 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099365
- GRCh38:
- Chr6:156778231
| ARID1B, LOC115308161 | H184R, H101R, H43R | not provided | Likely benign (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099366
- GRCh38:
- Chr6:156778232
| ARID1B, LOC115308161 | | Inborn genetic diseases | Likely benign (Jun 23, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099379
- GRCh38:
- Chr6:156778245
| LOC115308161, ARID1B | L189V | not provided | Uncertain significance (Jan 10, 2020) | criteria provided, single submitter |