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Items: 1 to 100 of 1617

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:73895566-73895579
Chr6:157292076-157292079
ARID1Bnot providedPathogenic
(Feb 2, 2018)
no assertion criteria provided
2.
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 casesPathogenic
(Jun 4, 2013)
no assertion criteria provided
3.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr6:150702375-159974984
GRCh38:
Chr6:150381239-159553952
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
5.
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 casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
6.
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 casesPathogenic
(Jul 1, 2013)
no assertion criteria provided
7.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr6:154500098-159441401
GRCh38:
Chr6:154178964-159020369
See casesLikely pathogenic
(Dec 13, 2010)
no assertion criteria provided
9.
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 casesPathogenic
(Apr 14, 2011)
no assertion criteria provided
10.
GRCh37:
Chr6:155699183-163554531
GRCh38:
Chr6:155378049-163133499
See casesPathogenic
(Oct 7, 2011)
no assertion criteria provided
11.
GRCh37:
Chr6:156190384-157120089
GRCh38:
Chr6:155869250-156798955
ARID1B, LOC115308161, LOC123881342, LOC123881343, MIR1202, MIR4466, SNORD28BSee casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
12.
GRCh37:
Chr6:156549545-157430123
GRCh38:
Chr6:156228411-157108989
ARID1B, LOC115308161, LOC123881342, LOC123881343, LOC123881344, MIR4466, SNORD28BSee casesLikely pathogenic
(Sep 1, 2017)
criteria provided, single submitter
13.
GRCh37:
Chr6:156674766-157968773
GRCh38:
Chr6:156353632-157547741
See casesLikely benign
(Oct 10, 2011)
no assertion criteria provided
14.
GRCh37:
Chr6:156674766-157870814
GRCh38:
Chr6:156353632-157449782
See casesPathogenic
(Sep 16, 2011)
no assertion criteria provided
15.
GRCh37:
Chr6:156674766-157968714
GRCh38:
Chr6:156353632-157547682
See casesUncertain significance
(Nov 30, 2010)
no assertion criteria provided
16.
GRCh37:
Chr6:157098826-157098827
GRCh38:
Chr6:156777692-156777693
ARID1B, LOC115308161not providedBenign
(Nov 26, 2019)
criteria provided, single submitter
17.
GRCh37:
Chr6:157098832-157098833
GRCh38:
Chr6:156777698-156777699
ARID1B, LOC115308161not providedLikely benign
(Sep 24, 2019)
criteria provided, single submitter
18.
GRCh37:
Chr6:157098853-157098864
GRCh38:
Chr6:156777719-156777730
ARID1B, LOC115308161not providedBenign
(Mar 1, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr6:157099013
GRCh38:
Chr6:156777879
ARID1B, LOC115308161G67Snot providedBenign
(Aug 31, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr6:157099024
GRCh38:
Chr6:156777890
ARID1B, LOC115308161S70Rnot providedBenign
(Jan 21, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr6:157099061
GRCh38:
Chr6:156777927
ARID1B, LOC115308161N83Dnot specifiedUncertain significance
(Jun 29, 2015)
criteria provided, single submitter
22.
GRCh37:
Chr6:157099067
GRCh38:
Chr6:156777933
ARID1B, LOC115308161A85SCoffin-Siris syndrome 1Uncertain significance
(Aug 12, 2019)
criteria provided, single submitter
23.
GRCh37:
Chr6:157099070
GRCh38:
Chr6:156777936
ARID1B, LOC115308161H3Y, H86Ynot providedUncertain significance
(Oct 2, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr6:157099074-157099075
GRCh38:
Chr6:156777940-156777941
ARID1B, LOC115308161Inborn genetic diseases, not specified, not provided
Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr6:157099080
GRCh38:
Chr6:156777946
ARID1B, LOC115308161G6D, G89DARID1B-related BAFopathyLikely pathogenic
(Jun 10, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr6:157099083
GRCh38:
Chr6:156777949
LOC115308161, ARID1BA7V, A90Vnot providedBenign
(Aug 3, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr6:157099085
GRCh38:
Chr6:156777951
ARID1B, LOC115308161A8P, A91PInborn genetic diseasesUncertain significance
(Sep 6, 2017)
criteria provided, single submitter
28.
GRCh37:
Chr6:157099088
GRCh38:
Chr6:156777954
ARID1B, LOC115308161A92Tnot providedBenign
(Sep 23, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr6:157099097
GRCh38:
Chr6:156777963
ARID1B, LOC115308161G12S, G95Snot specifiedLikely benign
(Feb 4, 2015)
criteria provided, single submitter
30.
GRCh37:
Chr6:157099106
GRCh38:
Chr6:156777972
ARID1B, LOC115308161S15G, S98GInborn genetic diseases, Coffin-Siris syndrome 1Uncertain significance
(Sep 3, 2021)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr6:157099109
GRCh38:
Chr6:156777975
ARID1B, LOC115308161A16T, A99Tnot providedUncertain significance
(Aug 1, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr6:157099114
GRCh38:
Chr6:156777980
LOC115308161, ARID1BK100Nnot providedLikely benign
(Dec 8, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr6:157099117
GRCh38:
Chr6:156777983
ARID1B, LOC115308161S101R, S18Rnot providedUncertain significance
(Nov 1, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr6:157099118
GRCh38:
Chr6:156777984
ARID1B, LOC115308161G19R, G102RInborn genetic diseasesLikely benign
(Aug 18, 2017)
criteria provided, single submitter
35.
GRCh37:
Chr6:157099120
GRCh38:
Chr6:156777986
LOC115308161, ARID1Bnot providedLikely benign
(Apr 18, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr6:157099125
GRCh38:
Chr6:156777991
ARID1B, LOC115308161S21C, S104CInborn genetic diseasesUncertain significance
(Dec 19, 2017)
criteria provided, single submitter
37.
GRCh37:
Chr6:157099126
GRCh38:
Chr6:156777992
ARID1B, LOC115308161Inborn genetic diseasesLikely benign
(Mar 10, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr6:157099127
GRCh38:
Chr6:156777993
LOC115308161, ARID1BE105K, E22Knot providedBenign
(Sep 7, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr6:157099127-157099137
GRCh38:
Chr6:156777993-156778003
LOC115308161, ARID1BE105fsnot providedPathogenic
(Oct 23, 2020)
criteria provided, single submitter
40.
GRCh37:
Chr6:157099132
GRCh38:
Chr6:156777998
LOC115308161, ARID1Bnot specified, Coffin-Siris syndrome 1, Inborn genetic diseases,
not provided
Benign/Likely benign
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr6:157099139-157099141
GRCh38:
Chr6:156778005-156778007
ARID1B, LOC115308161K109del, K26delnot providedUncertain significance
(Jun 8, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr6:157099139
GRCh38:
Chr6:156778005
ARID1B, LOC115308161K26Q, K109QInborn genetic diseases, not providedUncertain significance
(Jul 13, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr6:157099144
GRCh38:
Chr6:156778010
LOC115308161, ARID1BE110D, E27Dnot providedLikely benign
(Sep 27, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr6:157099158
GRCh38:
Chr6:156778024
ARID1B, LOC115308161A115Gnot providedUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr6:157099161
GRCh38:
Chr6:156778027
ARID1B, LOC115308161A116Vnot specifiedUncertain significance
(Apr 9, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr6:157099164
GRCh38:
Chr6:156778030
ARID1B, LOC115308161L117Pnot providedLikely benign
(Sep 12, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr6:157099165-157099166
GRCh38:
Chr6:156778031-156778032
LOC115308161, ARID1Bnot providedConflicting interpretations of pathogenicity
(Aug 9, 2022)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr6:157099165-157099166
GRCh38:
Chr6:156778031-156778032
ARID1B, LOC115308161Inborn genetic diseases, not provided, not specified
Benign/Likely benign
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr6:157099166-157099168
GRCh38:
Chr6:156778032-156778034
ARID1B, LOC115308161S124delnot provided, Inborn genetic diseases, not specified
Conflicting interpretations of pathogenicity
(Aug 10, 2022)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr6:157099179
GRCh38:
Chr6:156778045
ARID1B, LOC115308161S122F, S39Fnot providedLikely benign
(Oct 14, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr6:157099182
GRCh38:
Chr6:156778048
ARID1B, LOC115308161S123C, S40Cnot providedUncertain significance
(Jul 29, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr6:157099183
GRCh38:
Chr6:156778049
ARID1B, LOC115308161not specifiedLikely benign
(Nov 9, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr6:157099186-157099187
GRCh38:
Chr6:156778052-156778053
ARID1B, LOC115308161not providedLikely benign
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr6:157099187-157099195
GRCh38:
Chr6:156778053-156778061
ARID1B, LOC115308161not provided, Inborn genetic diseasesBenign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr6:157099195
GRCh38:
Chr6:156778061
ARID1B, LOC115308161Inborn genetic diseases, not providedLikely benign
(Aug 21, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr6:157099196
GRCh38:
Chr6:156778062
ARID1B, LOC115308161A128TIntellectual disabilityLikely benign
(Jan 1, 2019)
no assertion criteria provided
57.
GRCh37:
Chr6:157099202
GRCh38:
Chr6:156778068
ARID1B, LOC115308161A47S, A130Snot providedUncertain significance
(Oct 30, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr6:157099209
GRCh38:
Chr6:156778075
ARID1B, LOC115308161S132F, S49FInborn genetic diseases, not providedLikely benign
(Nov 2, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr6:157099213
GRCh38:
Chr6:156778079
LOC115308161, ARID1Bnot providedLikely benign
(Jul 19, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr6:157099217
GRCh38:
Chr6:156778083
LOC115308161, ARID1BS135A, S52Anot providedUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr6:157099221
GRCh38:
Chr6:156778087
ARID1B, LOC115308161S136Lnot providedConflicting interpretations of pathogenicity
(Oct 25, 2022)
criteria provided, conflicting interpretations
62.
GRCh37:
Chr6:157099231
GRCh38:
Chr6:156778097
LOC115308161, ARID1Bnot provided, Coffin-Siris syndrome 1, Inborn genetic diseases
Conflicting interpretations of pathogenicity
(Sep 27, 2022)
criteria provided, conflicting interpretations
63.
GRCh37:
Chr6:157099233
GRCh38:
Chr6:156778099
LOC115308161, ARID1BS140L, S57Lnot providedUncertain significance
(Aug 28, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr6:157099241
GRCh38:
Chr6:156778107
ARID1B, LOC115308161E143Q, E2Q, E60Qnot providedUncertain significance
(Aug 7, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr6:157099242
GRCh38:
Chr6:156778108
ARID1B, LOC115308161E143Gnot providedUncertain significance
(Dec 16, 2020)
criteria provided, single submitter
66.
GRCh37:
Chr6:157099246
GRCh38:
Chr6:156778112
LOC115308161, ARID1Bnot providedLikely benign
(Oct 31, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr6:157099260
GRCh38:
Chr6:156778126
LOC115308161, ARID1BN66S, N149Snot specified, Coffin-Siris syndrome 1, Inborn genetic diseases,
not provided
Conflicting interpretations of pathogenicity
(Aug 23, 2022)
criteria provided, conflicting interpretations
68.
GRCh37:
Chr6:157099270
GRCh38:
Chr6:156778136
LOC115308161, ARID1Bnot providedLikely benign
(Jul 30, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr6:157099295
GRCh38:
Chr6:156778161
ARID1B, LOC115308161A161Tnot providedUncertain significance
(Sep 19, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr6:157099296
GRCh38:
Chr6:156778162
ARID1B, LOC115308161A161VCoffin-Siris syndrome 1Uncertain significance
(Feb 20, 2020)
criteria provided, single submitter
71.
GRCh37:
Chr6:157099307
GRCh38:
Chr6:156778173
LOC115308161, ARID1BQ165K, Q24K, Q82KInborn genetic diseasesLikely benign
(Mar 22, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr6:157099308
GRCh38:
Chr6:156778174
ARID1B, LOC115308161Q24P, Q82P, Q165PInborn genetic diseasesUncertain significance
(Sep 29, 2020)
criteria provided, single submitter
73.
GRCh37:
Chr6:157099312-157099313
GRCh38:
Chr6:156778178-156778179
ARID1B, LOC115308161not providedUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr6:157099312-157099313
GRCh38:
Chr6:156778178-156778179
ARID1B, LOC115308161not providedConflicting interpretations of pathogenicity
(Apr 26, 2022)
criteria provided, conflicting interpretations
75.
GRCh37:
Chr6:157099313-157099336
GRCh38:
Chr6:156778179-156778202
LOC115308161, ARID1Bnot providedUncertain significance
(Oct 5, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr6:157099313-157099339
GRCh38:
Chr6:156778179-156778205
ARID1B, LOC115308161not providedUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr6:157099313-157099333
GRCh38:
Chr6:156778179-156778199
LOC115308161, ARID1BInborn genetic diseases, not providedConflicting interpretations of pathogenicity
(May 8, 2022)
criteria provided, conflicting interpretations
78.
GRCh37:
Chr6:157099313-157099315
GRCh38:
Chr6:156778179-156778181
ARID1B, LOC115308161H172delInborn genetic diseases, not providedConflicting interpretations of pathogenicity
(Sep 30, 2022)
criteria provided, conflicting interpretations
79.
GRCh37:
Chr6:157099314
GRCh38:
Chr6:156778180
ARID1B, LOC115308161H167R, H84R, H26RInborn genetic diseasesLikely benign
(Jan 11, 2019)
criteria provided, single submitter
80.
GRCh37:
Chr6:157099315
GRCh38:
Chr6:156778181
ARID1B, LOC115308161H167Qnot provided, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Oct 26, 2022)
criteria provided, conflicting interpretations
81.
GRCh37:
Chr6:157099316
GRCh38:
Chr6:156778182
ARID1B, LOC115308161H168Nnot providedLikely benign
(Feb 1, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr6:157099317
GRCh38:
Chr6:156778183
LOC115308161, ARID1BH168Rnot providedUncertain significance
(Sep 21, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr6:157099325-157099351
GRCh38:
Chr6:156778191-156778217
LOC115308161, ARID1Bnot providedUncertain significance
(Oct 25, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr6:157099327
GRCh38:
Chr6:156778193
LOC115308161, ARID1Bnot provided, Inborn genetic diseasesLikely benign
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr6:157099328
GRCh38:
Chr6:156778194
ARID1B, LOC115308161H172Ynot providedConflicting interpretations of pathogenicity
(Oct 13, 2022)
criteria provided, conflicting interpretations
86.
GRCh37:
Chr6:157099329
GRCh38:
Chr6:156778195
ARID1B, LOC115308161H172Pnot providedLikely benign
(Aug 6, 2020)
criteria provided, single submitter
87.
GRCh37:
Chr6:157099331-157099345
GRCh38:
Chr6:156778197-156778211
ARID1B, LOC115308161not providedUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr6:157099332-157099333
GRCh38:
Chr6:156778198-156778199
LOC115308161, ARID1Bnot providedUncertain significance
(Sep 29, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr6:157099332-157099333
GRCh38:
Chr6:156778198-156778199
ARID1B, LOC115308161not providedUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr6:157099333-157099338
GRCh38:
Chr6:156778199-156778204
ARID1B, LOC115308161not providedUncertain significance
(Feb 5, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr6:157099333-157099335
GRCh38:
Chr6:156778199-156778201
ARID1B, LOC115308161H179delInborn genetic diseases, not providedBenign/Likely benign
(Oct 6, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr6:157099339-157099362
GRCh38:
Chr6:156778205-156778228
ARID1B, LOC115308161not specifiedUncertain significance
(Sep 23, 2015)
criteria provided, single submitter
93.
GRCh37:
Chr6:157099341
GRCh38:
Chr6:156778207
LOC115308161, ARID1BH93L, H176Lnot specifiedLikely benign
(May 9, 2014)
criteria provided, single submitter
94.
GRCh37:
Chr6:157099342
GRCh38:
Chr6:156778208
ARID1B, LOC115308161H176Q, H35Q, H93Qnot providedUncertain significance
(Jun 29, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr6:157099349
GRCh38:
Chr6:156778215
ARID1B, LOC115308161H179Nnot provided, Coffin-Siris syndrome 1Conflicting interpretations of pathogenicity
(Jun 27, 2022)
criteria provided, conflicting interpretations
96.
GRCh37:
Chr6:157099356
GRCh38:
Chr6:156778222
ARID1B, LOC115308161H181Rnot providedUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr6:157099363-157099365
GRCh38:
Chr6:156778229-156778231
ARID1B, LOC115308161H187del, H104del, H46delInborn genetic diseasesLikely benign
(Dec 12, 2019)
criteria provided, single submitter
98.
GRCh37:
Chr6:157099365
GRCh38:
Chr6:156778231
ARID1B, LOC115308161H184R, H101R, H43Rnot providedLikely benign
(Sep 1, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr6:157099366
GRCh38:
Chr6:156778232
ARID1B, LOC115308161Inborn genetic diseasesLikely benign
(Jun 23, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr6:157099379
GRCh38:
Chr6:156778245
LOC115308161, ARID1BL189Vnot providedUncertain significance
(Jan 10, 2020)
criteria provided, single submitter
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