TAB2[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1553771.	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3 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
Select item 1476652.	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3 GRCh37: Chr6:135679288-155776251 GRCh38: Chr6:135358150-155455117	ABRACL, ADAT2, ADGB, ADGB-DT, ADGRG6, AHI1, AHI1-DT, AIG1, AKAP12, ARFGEF3, ARMT1, BCLAF1, CCDC170, CCDC28A, CCDC28A-AS1, CITED2, CLDN20, CNKSR3, ECT2L, EPM2A, EPM2A-DT, ESR1, FBXO30, FBXO5, FILNC1, FUCA2, GINM1, GJE1, GRM1, HEBP2, HECA, HIVEP2, HYMAI, IFNGR1, IL20RA, IL22RA2, IPCEF1, IYD, KATNA1, LATS1, LINC01277, LINC01625, LINC02524, LINC02539, LINC02840, LINC02865, LINC02919, LINC02941, LINC03004, LOC102723831, LOC103352541, LOC105378052, LOC107403234, LOC108169207, LOC108348020, LOC110121174, LOC110121225, LOC111413040, LOC111589214, LOC111828525, LOC111828526, LOC113146415, LOC113146417, LOC113146418, LOC113146419, LOC113146422, LOC113146423, LOC113146426, LOC114004398, LOC116183069, LOC116183070, LOC116183071, LOC116183072, LOC116183073, LOC116183074, LOC116183075, LOC116183076, LOC121132708, LOC121132709, LOC121132710, LOC121740667, LOC121740668, LOC121740669, LOC121740670, 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, LOC124900217, 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, LOC153910, LOC645967, LRP11, LTV1, LUADT1, MAP3K5, MAP3K5-AS1, MAP3K5-AS2, MAP7, MIR12131, MIR1273C, MIR3145, MIR3668, MIR4465, MTFR2, MTHFD1L, MTRF1L, MYCT1, NHEG1, NHSL1, NHSL1-AS1, NMBR, NOX3, NUP43, OLIG3, OPRM1, PBOV1, PCMT1, PDE7B, PDE7B-AS1, PERP, PEX3, PEX7, PHACTR2, PHACTR2-AS1, PLAGL1, PLEKHG1, PPIL4, PPP1R14C, RAB32, RAET1E, RAET1E-AS1, RAET1E-LRP11, RAET1G, RAET1L, REPS1, RGS17, RMND1, SAMD5, SASH1, SCAF8, SF3B5, SHPRH, SIMALR, SLC35D3, SMIM28, SNORA98, STX11, STXBP5, STXBP5-AS1, SUMO4, SYNE1, SYNE1-AS1, TAB2, TAB2-AS1, TFB1M, TIAM2, TNFAIP3, TRL-TAA1-1, TRQ-TTG4-1, TXLNB, ULBP1, ULBP2, ULBP3, UST, UST-AS1, UST-AS2, UTRN, VIP, VTA1, WAKMAR2, ZBTB2, ZC2HC1B, ZC3H12D		See cases	Pathogenic (Oct 14, 2010)	no assertion criteria provided
Select item 570203.	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3 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
Select item 584524.	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1 GRCh37: Chr6:145253697-153306499 GRCh38: Chr6:144932561-152985364	ADGB, ADGB-DT, AKAP12, ARMT1, CCDC170, EPM2A, EPM2A-DT, ESR1, FBXO30, FBXO5, GINM1, GRM1, IYD, KATNA1, LATS1, LINC02840, LOC102723831, LOC105378052, LOC107403234, LOC108348020, LOC110121225, LOC111828526, LOC113146423, LOC113146426, LOC114004398, LOC116183075, LOC121132710, LOC121740669, LOC121740670, LOC123864095, LOC123864096, LOC123881324, LOC123881325, LOC123881326, LOC123881327, LOC123881328, LOC123881329, LOC123881330, LOC123881331, LOC123881332, LOC123881333, LOC123881334, LOC123881335, LOC123881336, LOC123881337, LOC123881338, LOC126859820, LOC126859821, LOC126859822, LOC126859823, LOC126859824, LOC126859825, LOC126859826, LOC126859827, LOC126859828, LOC126859829, LOC126859830, LOC126859831, LOC126859832, LOC126859833, LOC126859834, LOC126859835, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC645967, LRP11, LUADT1, MIR12131, MTHFD1L, MYCT1, NUP43, PCMT1, PLEKHG1, PPIL4, PPP1R14C, RAB32, RAET1E, RAET1E-AS1, RAET1E-LRP11, RAET1G, RAET1L, RMND1, SAMD5, SASH1, SHPRH, STXBP5, STXBP5-AS1, SUMO4, SYNE1, SYNE1-AS1, TAB2, TAB2-AS1, TRQ-TTG4-1, ULBP1, ULBP2, ULBP3, UST, UST-AS1, UST-AS2, VIP, ZBTB2, ZC3H12D		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 573205.	GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1 GRCh37: Chr6:146802255-151748764 GRCh38: Chr6:146481119-151427629	IYD, KATNA1, ADGB, ADGB-DT, AKAP12, GINM1, LATS1, LOC102723831, LOC105378052, LOC107403234, LOC108348020, LOC110121225, LOC113146423, LOC113146426, LOC114004398, LOC116183075, LOC121132710, LOC121740669, LOC121740670, LOC123881324, LOC123881325, LOC123881326, LOC123881327, LOC123881328, LOC123881329, LOC123881330, LOC123881331, LOC123881332, LOC123881333, LOC123881334, LOC123881335, LOC123881336, LOC123881337, LOC126859823, LOC126859824, LOC126859825, LOC126859826, LOC126859827, LOC126859828, LOC126859829, LOC126859830, LOC126859831, LOC126859832, LOC126859833, LOC645967, LRP11, LUADT1, MIR12131, MTHFD1L, NUP43, PCMT1, PLEKHG1, PPIL4, PPP1R14C, RAB32, RAET1E, RAET1E-AS1, RAET1E-LRP11, RAET1G, RAET1L, RMND1, SAMD5, SASH1, STXBP5, STXBP5-AS1, SUMO4, TAB2, TAB2-AS1, ULBP1, ULBP2, ULBP3, UST, UST-AS1, UST-AS2, ZBTB2, ZC3H12D		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1493176.	GRCh38/hg38 6q24.3-25.1(chr6:147580351-150227963)x3 GRCh37: Chr6:147901487-150549099 GRCh38: Chr6:147580351-150227963	GINM1, KATNA1, LATS1, LOC105378052, LOC107403234, LOC110121225, LOC113146423, LOC121132710, LOC123881325, LOC123881326, LOC123881327, LOC123881328, LOC123881329, LOC123881330, LOC123881331, LOC123881332, LOC126859824, LOC126859825, LOC126859826, LOC126859827, LOC126859828, LOC645967, LRP11, NUP43, PCMT1, PPIL4, PPP1R14C, RAET1E, RAET1E-AS1, RAET1E-LRP11, RAET1G, RAET1L, SAMD5, SASH1, SUMO4, TAB2, TAB2-AS1, ULBP1, ULBP2, ULBP3, UST, UST-AS1, UST-AS2, ZC3H12D		See cases	Uncertain significance (Jun 1, 2012)	no assertion criteria provided
Select item 1460827.	GRCh38/hg38 6q24.3-25.1(chr6:147805119-150893715)x1 GRCh37: Chr6:148126255-151214851 GRCh38: Chr6:147805119-150893715	GINM1, IYD, KATNA1, LATS1, LOC105378052, LOC107403234, LOC108348020, LOC110121225, LOC113146423, LOC113146426, LOC116183075, LOC121132710, LOC123881325, LOC123881326, LOC123881327, LOC123881328, LOC123881329, LOC123881330, LOC123881331, LOC123881332, LOC123881333, LOC123881334, LOC123881335, LOC123881336, LOC126859824, LOC126859825, LOC126859826, LOC126859827, LOC126859828, LOC126859829, LOC126859830, LOC645967, LRP11, MTHFD1L, NUP43, PCMT1, PLEKHG1, PPIL4, PPP1R14C, RAET1E, RAET1E-AS1, RAET1E-LRP11, RAET1G, RAET1L, SAMD5, SASH1, SUMO4, TAB2, TAB2-AS1, ULBP1, ULBP2, ULBP3, UST, UST-AS1, UST-AS2, ZC3H12D		See cases	Pathogenic (Jul 30, 2009)	no assertion criteria provided
Select item 1478458.	GRCh38/hg38 6q24.3-25.1(chr6:148112335-149649984)x1 GRCh37: Chr6:148433471-149971120 GRCh38: Chr6:148112335-149649984	GINM1, KATNA1, LOC107403234, LOC113146423, LOC121132710, LOC123881325, LOC123881326, LOC123881327, LOC123881328, LOC126859824, LOC126859825, LOC126859826, LOC126859827, PPIL4, SASH1, SUMO4, TAB2, TAB2-AS1, UST, UST-AS1, UST-AS2, ZC3H12D		See cases	Pathogenic (Sep 16, 2011)	no assertion criteria provided
Select item 1532359.	GRCh38/hg38 6q25.1(chr6:149056723-149435037)x1 GRCh37: Chr6:149377859-149756173 GRCh38: Chr6:149056723-149435037	LOC123881328, LOC126859826, LOC126859827, SUMO4, TAB2, TAB2-AS1, UST		See cases	Uncertain significance (Mar 24, 2014)	no assertion criteria provided
Select item 14629810.	GRCh38/hg38 6q25.1(chr6:149333404-149527861)x3 GRCh37: Chr6:149654540-149848997 GRCh38: Chr6:149333404-149527861	LOC126859827, PPIL4, SUMO4, TAB2, ZC3H12D		See cases	Uncertain significance (Jan 27, 2011)	no assertion criteria provided
Select item 129113811.	NM_001292034.3(TAB2):c.-89-320A>C GRCh37: Chr6:149690725 GRCh38: Chr6:149369589	TAB2		not provided	Benign (Sep 4, 2018)	criteria provided, single submitter
Select item 127285412.	NM_001292034.3(TAB2):c.-89-308A>G GRCh37: Chr6:149690737 GRCh38: Chr6:149369601	TAB2		not provided	Benign (May 22, 2020)	criteria provided, single submitter
Select item 119892213.	NM_001292034.3(TAB2):c.-89-238G>A GRCh37: Chr6:149690807 GRCh38: Chr6:149369671	TAB2		not provided	Likely benign (Sep 1, 2020)	criteria provided, single submitter
Select item 122818014.	NM_001292034.3(TAB2):c.-89-16TTTC[4] GRCh37: Chr6:149691028-149691029 GRCh38: Chr6:149369892-149369893	TAB2		not provided	Benign (Apr 28, 2021)	criteria provided, single submitter
Select item 202556015.	NM_001292034.3(TAB2):c.10G>A (p.Gly4Arg) GRCh37: Chr6:149691143 GRCh38: Chr6:149370007	TAB2	G4R	not provided	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 243692416.	NM_001292034.3(TAB2):c.17A>G (p.His6Arg) GRCh37: Chr6:149691150 GRCh38: Chr6:149370014	TAB2	H6R	Congenital heart defects, multiple types, 2	Uncertain significance (Jan 26, 2023)	criteria provided, single submitter
Select item 154061517.	NM_001292034.3(TAB2):c.21A>G (p.Gln7=) GRCh37: Chr6:149691154 GRCh38: Chr6:149370018	TAB2		Congenital heart defects, multiple types, 2, not provided	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 231143718.	NM_001292034.3(TAB2):c.22A>G (p.Ile8Val) GRCh37: Chr6:149691155 GRCh38: Chr6:149370019	TAB2	I8V	Inborn genetic diseases	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 190803419.	NM_001292034.3(TAB2):c.25G>A (p.Asp9Asn) GRCh37: Chr6:149691158 GRCh38: Chr6:149370022	TAB2	D9N	not provided	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 171065120.	NM_001292034.3(TAB2):c.82G>A (p.Val28Ile) GRCh37: Chr6:149691215 GRCh38: Chr6:149370079	TAB2	V28I	not provided	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 160481121.	NM_001292034.3(TAB2):c.102+12A>G GRCh37: Chr6:149691247 GRCh38: Chr6:149370111	TAB2		not provided	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 202131922.	NM_001292034.3(TAB2):c.102+14G>A GRCh37: Chr6:149691249 GRCh38: Chr6:149370113	TAB2		not provided	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 192594023.	NM_001292034.3(TAB2):c.102+17T>C GRCh37: Chr6:149691252 GRCh38: Chr6:149370116	TAB2		not provided	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 166896724.	NM_001292034.3(TAB2):c.102+17T>G GRCh37: Chr6:149691252 GRCh38: Chr6:149370116	TAB2		not provided	Likely benign (Dec 13, 2021)	criteria provided, single submitter
Select item 123566125.	NM_001292034.3(TAB2):c.102+58del GRCh37: Chr6:149691292 GRCh38: Chr6:149370156	TAB2		not provided	Benign (Sep 6, 2018)	criteria provided, single submitter
Select item 125965026.	NM_001292034.3(TAB2):c.102+120T>G GRCh37: Chr6:149691355 GRCh38: Chr6:149370219	TAB2		not provided	Benign (Sep 4, 2018)	criteria provided, single submitter
Select item 129541027.	NM_001292034.3(TAB2):c.103-252G>T GRCh37: Chr6:149698902 GRCh38: Chr6:149377766	TAB2		not provided	Benign (Sep 4, 2018)	criteria provided, single submitter
Select item 123436528.	NM_001292034.3(TAB2):c.103-201_103-198del GRCh37: Chr6:149698951-149698954 GRCh38: Chr6:149377815-149377818	TAB2		not provided	Benign (Nov 9, 2019)	criteria provided, single submitter
Select item 117441329.	NM_001292034.3(TAB2):c.103-138A>T GRCh37: Chr6:149699016 GRCh38: Chr6:149377880	TAB2		not provided	Benign (Sep 4, 2018)	criteria provided, single submitter
Select item 43281130.	NM_001292034.3(TAB2):c.103A>G (p.Asn35Asp) GRCh37: Chr6:149699154 GRCh38: Chr6:149378018	TAB2	N35D, N3D	not provided	Uncertain significance (Jun 7, 2018)	criteria provided, single submitter
Select item 191777831.	NM_001292034.3(TAB2):c.145G>A (p.Glu49Lys) GRCh37: Chr6:149699196 GRCh38: Chr6:149378060	TAB2	E17K, E49K	not provided	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 72974532.	NM_001292034.3(TAB2):c.156A>G (p.Arg52=) GRCh37: Chr6:149699207 GRCh38: Chr6:149378071	TAB2		not provided	Conflicting interpretations of pathogenicity (Oct 15, 2021)	criteria provided, conflicting interpretations
Select item 159468733.	NM_001292034.3(TAB2):c.165T>C (p.Tyr55=) GRCh37: Chr6:149699216 GRCh38: Chr6:149378080	TAB2		not provided	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 180373934.	NM_001292034.3(TAB2):c.203T>C (p.Ile68Thr) GRCh37: Chr6:149699254 GRCh38: Chr6:149378118	TAB2	I36T, I68T	Congenital heart defects, multiple types, 2	Uncertain significance (Nov 5, 2021)	criteria provided, single submitter
Select item 98563435.	NM_001292034.3(TAB2):c.253_254del (p.Gln85fs) GRCh37: Chr6:149699302-149699303 GRCh38: Chr6:149378166-149378167	TAB2	Q53fs, Q85fs	Inborn genetic diseases	Pathogenic (Sep 20, 2018)	criteria provided, single submitter
Select item 37346936.	NM_001292034.3(TAB2):c.251C>A (p.Ser84Ter) GRCh37: Chr6:149699302 GRCh38: Chr6:149378166	TAB2	S84, S52	not provided	Pathogenic (Dec 8, 2016)	criteria provided, single submitter
Select item 169967537.	NM_001292034.3(TAB2):c.255G>C (p.Gln85His) GRCh37: Chr6:149699306 GRCh38: Chr6:149378170	TAB2	Q53H, Q85H	not provided	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 147398138.	NM_001292034.3(TAB2):c.259A>C (p.Ile87Leu) GRCh37: Chr6:149699310 GRCh38: Chr6:149378174	TAB2	I87L, I55L	not provided	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 140016139.	NM_001292034.3(TAB2):c.277G>A (p.Glu93Lys) GRCh37: Chr6:149699328 GRCh38: Chr6:149378192	TAB2	E61K, E93K	not provided	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 117436840.	NM_001292034.3(TAB2):c.282A>G (p.Gly94=) GRCh37: Chr6:149699333 GRCh38: Chr6:149378197	TAB2		not provided	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103040541.	NM_001292034.3(TAB2):c.287G>A (p.Arg96Lys) GRCh37: Chr6:149699338 GRCh38: Chr6:149378202	TAB2	R64K, R96K	not provided, Congenital heart defects, multiple types, 2	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130927942.	NM_001292034.3(TAB2):c.311C>T (p.Thr104Met) GRCh37: Chr6:149699362 GRCh38: Chr6:149378226	TAB2	T104M, T72M	not provided	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 79867743.	NM_001292034.3(TAB2):c.324T>C (p.Ser108=) GRCh37: Chr6:149699375 GRCh38: Chr6:149378239	TAB2		not provided	Likely benign (Oct 15, 2022)	criteria provided, single submitter
Select item 135420144.	NM_001292034.3(TAB2):c.332A>G (p.Gln111Arg) GRCh37: Chr6:149699383 GRCh38: Chr6:149378247	TAB2	Q79R, Q111R	not provided	Uncertain significance (Dec 14, 2021)	criteria provided, single submitter
Select item 136731445.	NM_001292034.3(TAB2):c.333A>C (p.Gln111His) GRCh37: Chr6:149699384 GRCh38: Chr6:149378248	TAB2	Q79H, Q111H	not provided	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 217663946.	NM_001292034.3(TAB2):c.344G>T (p.Gly115Val) GRCh37: Chr6:149699395 GRCh38: Chr6:149378259	TAB2	G115V, G83V	not provided	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 153343247.	NM_001292034.3(TAB2):c.351C>T (p.Ser117=) GRCh37: Chr6:149699402 GRCh38: Chr6:149378266	TAB2		not provided	Likely benign (Aug 11, 2021)	criteria provided, single submitter
Select item 136886748.	NM_001292034.3(TAB2):c.352A>T (p.Asn118Tyr) GRCh37: Chr6:149699403 GRCh38: Chr6:149378267	TAB2	N118Y, N86Y	not provided	Uncertain significance (Feb 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 155498149.	NM_001292034.3(TAB2):c.375G>A (p.Glu125=) GRCh37: Chr6:149699426 GRCh38: Chr6:149378290	TAB2		not provided	Benign (Oct 28, 2022)	criteria provided, single submitter
Select item 141456250.	NM_001292034.3(TAB2):c.388C>G (p.Pro130Ala) GRCh37: Chr6:149699439 GRCh38: Chr6:149378303	TAB2	P130A, P98A	not provided	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 194929451.	NM_001292034.3(TAB2):c.401C>T (p.Pro134Leu) GRCh37: Chr6:149699452 GRCh38: Chr6:149378316	TAB2	P102L, P134L	not provided	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 37270252.	NM_001292034.3(TAB2):c.403C>T (p.Gln135Ter) GRCh37: Chr6:149699454 GRCh38: Chr6:149378318	TAB2	Q135, Q103	not provided	Likely pathogenic (May 2, 2017)	criteria provided, single submitter
Select item 223192853.	NM_001292034.3(TAB2):c.431G>C (p.Ser144Thr) GRCh37: Chr6:149699482 GRCh38: Chr6:149378346	TAB2	S144T, S112T	Inborn genetic diseases	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 158825454.	NM_001292034.3(TAB2):c.438T>C (p.Ser146=) GRCh37: Chr6:149699489 GRCh38: Chr6:149378353	TAB2		not provided	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 69511455.	NM_001292034.3(TAB2):c.441del (p.Ala148fs) GRCh37: Chr6:149699492 GRCh38: Chr6:149378356	TAB2	A116fs, A148fs	Congenital heart defects, multiple types, 2	Uncertain significance (Jul 1, 2016)	no assertion criteria provided
Select item 104862956.	NM_001292034.3(TAB2):c.446C>G (p.Ser149Ter) GRCh37: Chr6:149699497 GRCh38: Chr6:149378361	TAB2	S149, S117	Congenital heart defects, multiple types, 2	Pathogenic (Apr 2, 2021)	no assertion criteria provided
Select item 244183157.	NM_001292034.3(TAB2):c.473_474del (p.His158fs) GRCh37: Chr6:149699523-149699524 GRCh38: Chr6:149378387-149378388	TAB2	H126fs, H158fs	Congenital heart defects, multiple types, 2	Pathogenic (Nov 14, 2022)	criteria provided, single submitter
Select item 155155658.	NM_001292034.3(TAB2):c.472C>T (p.His158Tyr) GRCh37: Chr6:149699523 GRCh38: Chr6:149378387	TAB2	H126Y, H158Y	Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Aug 24, 2022)	criteria provided, conflicting interpretations
Select item 146913759.	NM_001292034.3(TAB2):c.473A>G (p.His158Arg) GRCh37: Chr6:149699524 GRCh38: Chr6:149378388	TAB2	H126R, H158R	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 166681860.	NM_001292034.3(TAB2):c.507A>G (p.Gln169=) GRCh37: Chr6:149699558 GRCh38: Chr6:149378422	TAB2		not provided	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 139686861.	NM_001292034.3(TAB2):c.509A>G (p.Gln170Arg) GRCh37: Chr6:149699560 GRCh38: Chr6:149378424	TAB2	Q170R, Q138R	not provided	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 195688462.	NM_001292034.3(TAB2):c.518G>A (p.Arg173Lys) GRCh37: Chr6:149699569 GRCh38: Chr6:149378433	TAB2	R141K, R173K	not provided	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 170825963.	NM_001292034.3(TAB2):c.548C>T (p.Pro183Leu) GRCh37: Chr6:149699599 GRCh38: Chr6:149378463	TAB2	P151L, P183L	Congenital heart defects, multiple types, 2	Likely pathogenic (Oct 4, 2022)	criteria provided, single submitter
Select item 142842164.	NM_001292034.3(TAB2):c.566G>A (p.Arg189His) GRCh37: Chr6:149699617 GRCh38: Chr6:149378481	TAB2	R157H, R189H	not provided, Inborn genetic diseases	Uncertain significance (Dec 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131488665.	NM_001292034.3(TAB2):c.588C>T (p.His196=) GRCh37: Chr6:149699639 GRCh38: Chr6:149378503	TAB2		not provided	Uncertain significance (Apr 20, 2021)	criteria provided, single submitter
Select item 130082766.	NM_001292034.3(TAB2):c.597T>G (p.Gly199=) GRCh37: Chr6:149699648 GRCh38: Chr6:149378512	TAB2		not provided	Likely benign (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180210467.	NM_001292034.3(TAB2):c.608_609insA (p.Val204fs) GRCh37: Chr6:149699659-149699660 GRCh38: Chr6:149378523-149378524	TAB2	V172fs, V204fs	not provided	Pathogenic (Nov 16, 2022)	criteria provided, single submitter
Select item 142071568.	NM_001292034.3(TAB2):c.617A>G (p.Asn206Ser) GRCh37: Chr6:149699668 GRCh38: Chr6:149378532	TAB2	N174S, N206S	not provided	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 97675069.	NM_001292034.3(TAB2):c.622_626del (p.Pro208fs) GRCh37: Chr6:149699673-149699677 GRCh38: Chr6:149378537-149378541	TAB2	P176fs, P208fs	Congenital heart defects, multiple types, 2	Pathogenic (Jun 9, 2020)	criteria provided, single submitter
Select item 521170.	NM_001292034.3(TAB2):c.622C>T (p.Pro208Ser) GRCh37: Chr6:149699673 GRCh38: Chr6:149378537	TAB2	P208S, P176S	Congenital heart defects, multiple types, 2	Pathogenic (Jun 11, 2010)	no assertion criteria provided
Select item 190543071.	NM_001292034.3(TAB2):c.641A>G (p.Tyr214Cys) GRCh37: Chr6:149699692 GRCh38: Chr6:149378556	TAB2	Y214C, Y182C	not provided	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 197351272.	NM_001292034.3(TAB2):c.655A>G (p.Ile219Val) GRCh37: Chr6:149699706 GRCh38: Chr6:149378570	TAB2	I187V, I219V	not provided	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 145407473.	NM_001292034.3(TAB2):c.668del (p.Gly223fs) GRCh37: Chr6:149699718 GRCh38: Chr6:149378582	LOC126859827, TAB2	G223fs, G191fs	not provided	Pathogenic (Oct 14, 2021)	criteria provided, single submitter
Select item 56112474.	NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter) GRCh37: Chr6:149699730 GRCh38: Chr6:149378594	LOC126859827, TAB2	R227, R195	Inborn genetic diseases, Congenital heart defects, multiple types, 2, Encephalopathy	Pathogenic/Likely pathogenic (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 521275.	NM_001292034.3(TAB2):c.688C>A (p.Gln230Lys) GRCh37: Chr6:149699739 GRCh38: Chr6:149378603	LOC126859827, TAB2	Q230K, Q198K	not provided	Uncertain significance (Apr 14, 2021)	criteria provided, single submitter
Select item 208898976.	NM_001292034.3(TAB2):c.698_699dup (p.Gly234fs) GRCh37: Chr6:149699747-149699748 GRCh38: Chr6:149378611-149378612	LOC126859827, TAB2	G234fs, G202fs	not provided	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 217691577.	NM_001292034.3(TAB2):c.725T>G (p.Met242Arg) GRCh37: Chr6:149699776 GRCh38: Chr6:149378640	LOC126859827, TAB2	M242R, M210R	not provided	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 148075178.	NM_001292034.3(TAB2):c.730C>T (p.Pro244Ser) GRCh37: Chr6:149699781 GRCh38: Chr6:149378645	LOC126859827, TAB2	P244S, P212S	not provided	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 180099779.	NM_001292034.3(TAB2):c.766T>C (p.Trp256Arg) GRCh37: Chr6:149699817 GRCh38: Chr6:149378681	LOC126859827, TAB2	W224R, W256R	not provided	Uncertain significance (Jun 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218513880.	NM_001292034.3(TAB2):c.771T>C (p.Thr257_Thr258=) GRCh37: Chr6:149699822 GRCh38: Chr6:149378686	LOC126859827, TAB2		not provided	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 155301381.	NM_001292034.3(TAB2):c.774T>A (p.Thr258=) GRCh37: Chr6:149699825 GRCh38: Chr6:149378689	LOC126859827, TAB2		not provided	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 132516882.	NM_001292034.3(TAB2):c.814C>T (p.Gln272Ter) GRCh37: Chr6:149699865 GRCh38: Chr6:149378729	LOC126859827, TAB2	Q240, Q272	Congenital heart defects, multiple types, 2	Likely pathogenic (Mar 3, 2021)	criteria provided, single submitter
Select item 241977783.	NM_001292034.3(TAB2):c.827A>C (p.Gln276Pro) GRCh37: Chr6:149699878 GRCh38: Chr6:149378742	LOC126859827, TAB2	Q244P, Q276P	not provided	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 131221284.	NM_001292034.3(TAB2):c.844C>T (p.His282Tyr) GRCh37: Chr6:149699895 GRCh38: Chr6:149378759	LOC126859827, TAB2	H250Y, H282Y	not provided	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 162951585.	NM_001292034.3(TAB2):c.846T>C (p.His282=) GRCh37: Chr6:149699897 GRCh38: Chr6:149378761	LOC126859827, TAB2		not provided	Likely benign (May 19, 2021)	criteria provided, single submitter
Select item 157531186.	NM_001292034.3(TAB2):c.858A>G (p.Pro286=) GRCh37: Chr6:149699909 GRCh38: Chr6:149378773	LOC126859827, TAB2		not provided	Likely benign (Oct 31, 2021)	criteria provided, single submitter
Select item 98715887.	NM_001292034.3(TAB2):c.872_873del (p.Thr291fs) GRCh37: Chr6:149699923-149699924 GRCh38: Chr6:149378787-149378788	LOC126859827, TAB2	T259fs, T291fs	not provided	Pathogenic (Oct 23, 2020)	criteria provided, single submitter
Select item 154072988.	NM_001292034.3(TAB2):c.874A>G (p.Thr292Ala) GRCh37: Chr6:149699925 GRCh38: Chr6:149378789	LOC126859827, TAB2	T260A, T292A	not provided	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 48861489.	NM_001292034.3(TAB2):c.878del (p.Ser293fs) GRCh37: Chr6:149699929 GRCh38: Chr6:149378793	LOC126859827, TAB2	S261fs, S293fs	Congenital heart defects, multiple types, 2	Likely pathogenic (Nov 16, 2017)	criteria provided, single submitter
Select item 194743990.	NM_001292034.3(TAB2):c.897T>C (p.His299_Ser300=) GRCh37: Chr6:149699948 GRCh38: Chr6:149378812	LOC126859827, TAB2		not provided	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 117467891.	NM_001292034.3(TAB2):c.899C>A (p.Ser300Ter) GRCh37: Chr6:149699950 GRCh38: Chr6:149378814	LOC126859827, TAB2	S268, S300	not provided	Pathogenic/Likely pathogenic	no assertion criteria provided
Select item 42208592.	NM_001292034.3(TAB2):c.913_914del (p.Gln305fs) GRCh37: Chr6:149699962-149699963 GRCh38: Chr6:149378826-149378827	LOC126859827, TAB2	Q305fs, Q273fs	not provided	Pathogenic (Mar 15, 2023)	criteria provided, single submitter
Select item 147357893.	NM_001292034.3(TAB2):c.955A>G (p.Thr319Ala) GRCh37: Chr6:149700006 GRCh38: Chr6:149378870	LOC126859827, TAB2	T319A, T287A	not provided	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 193284994.	NM_001292034.3(TAB2):c.958G>C (p.Gly320Arg) GRCh37: Chr6:149700009 GRCh38: Chr6:149378873	LOC126859827, TAB2	G320R, G288R	not provided	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 149047695.	NM_001292034.3(TAB2):c.961C>T (p.Pro321Ser) GRCh37: Chr6:149700012 GRCh38: Chr6:149378876	LOC126859827, TAB2	P289S, P321S	not provided	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 118828496.	NM_001292034.3(TAB2):c.964C>T (p.Arg322Ter) GRCh37: Chr6:149700015 GRCh38: Chr6:149378879	LOC126859827, TAB2	R290, R322	not provided	Pathogenic (Feb 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 243088097.	NM_001292034.3(TAB2):c.972C>A (p.Asn324Lys) GRCh37: Chr6:149700023 GRCh38: Chr6:149378887	LOC126859827, TAB2	N292K, N324K	not provided	Uncertain significance (Aug 26, 2022)	criteria provided, single submitter
Select item 239500098.	NM_001292034.3(TAB2):c.975G>C (p.Gln325His) GRCh37: Chr6:149700026 GRCh38: Chr6:149378890	LOC126859827, TAB2	Q293H, Q325H	Inborn genetic diseases	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 180371599.	NM_001292034.3(TAB2):c.998C>G (p.Pro333Arg) GRCh37: Chr6:149700049 GRCh38: Chr6:149378913	LOC126859827, TAB2	P301R, P333R	TAB2-related syndrome	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 2258053100.	NM_001292034.3(TAB2):c.1010A>G (p.Asn337Ser) GRCh37: Chr6:149700061 GRCh38: Chr6:149378925	LOC126859827, TAB2	N305S, N337S	Inborn genetic diseases	Likely benign (Oct 29, 2021)	criteria provided, single submitter

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