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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr11:61793-10749516
GRCh38:
Chr11:61793-10727969
A-GAMMA3'E, ADM, ADM-DT, AKIP1, AMPD3, ANO9, AP2A2, APBB1, ARFIP2, ART1, ART5, ASCL2, ASCL3, B4GALNT4, BET1L, BGLT3, BRSK2, C11orf16, C11orf21, C11orf40, C11orf42, CAND1.11, CARS1, CARS1-AS1, CASC23, CAVIN3, CCKBR, CD151, CD81, CD81-AS1, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CNGA4, CRACR2B, CTSD, CYB5R2, DCHS1, DEAF1, DENND2B, DENND5A, DNHD1, DRD4, DUSP8, EIF3F, EPS8L2, FAM99A, FAM99B, FHIP1B, GATD1, HBD, H19, H19-ICR, HBB, HBB-3'HS1, HBB-HS-107, HBB-HS-111, HBB-LCR, HBE1, HBG1, HBG2, HOTS, HPX, HRAS, HS-E1, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, IGF2-AS, ILK, INS, INS-IGF2, IPO7, IRAG1, IRAG1-AS1, IRF7, KCNQ1, KCNQ1-AS1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-AS1, LINC01001, LINC01150, LINC01219, LINC02688, LINC02708, LINC02709, LINC02749, LMNTD2, LMNTD2-AS1, LMO1, LOC100506258, LOC101927708, LOC101928008, LOC102724784, LOC105274310, LOC105376526, LOC106099062, LOC106099063, LOC106099064, LOC106099065, LOC106783508, LOC106799843, LOC106865369, LOC107133510, LOC109623489, LOC109951029, LOC110006319, LOC110008579, LOC110011217, LOC110013311, LOC110121378, LOC110121453, LOC111718490, LOC112067719, LOC112067720, LOC112081391, LOC112081400, LOC112081404, LOC112081405, LOC112136080, LOC112136081, LOC112136092, LOC112136094, LOC113939920, LOC113939924, LOC113939927, LOC113939928, LOC114827852, LOC116216126, LOC116216127, LOC116216128, LOC116216129, LOC121392887, LOC121392888, LOC121392889, LOC121392890, LOC143666, LOC171391, LOC283299, LOC644656, LRRC56, LSP1, LYVE1, MIR210, MIR210HG, MIR302E, MIR4298, MIR4485, MIR4686, MIR4687, MIR483, MIR5691, MIR6743, MIR6744, MIR675, MIR7847, MMP26, MOB2, MRGPRE, MRGPRG, MRGPRG-AS1, MRPL17, MRPL23, MRPL23-AS1, MTRNR2L8, MUC2, MUC5AC, MUC5B, MUC5B-AS1, MUC6, NAP1L4, NLRP10, NLRP14, NLRP6, NRIP3, NRIP3-DT, NUP98, ODF3, OLFML1, OR10A2, OR10A3, OR10A4, OR10A5, OR10A6, OR2AG1, OR2AG2, OR2D2, OR2D3, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51C1P, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51J1, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E1, OR52E2, OR52E4, OR52E5, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52P1P, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B2P, OR56B4, OR5P2, OR5P3, OR6A2, OSBPL5, OVCH2, PANO1, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PPFIBP2, PRR33, PSMD13, PTDSS2, RASSF7, RBMXL2, RHOG, RIC3, RIC3-DT, RIC8A, RNF141, RNH1, RPL27A, RPLP2, RRM1, RRP8, SBF2, SBF2-AS1, SCGB1C1, SCT, SCUBE2, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SMPD1, SNORA23, SNORA3A, SNORA3B, SNORA52, SNORA54, SNORD131, STIM1, STIM1-AS1, STK33, SWAP70, SYT8, SYT9, TAF10, TALDO1, TH, TIMM10B, TMEM41B, TMEM80, TMEM9B, TMEM9B-AS1, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TPP1, TRIM21, TRIM22, TRIM3, TRIM34, TRIM5, TRIM6, TRIM66, TRIM68, TRL-CAA5-1, TRPM5, TSPAN32, TSPAN4, TSSC4, TUB, TUB-AS1, UBQLN3, UBQLNL, WEE1, ZNF143, ZNF195, ZNF214, ZNF215
See casesPathogenic
(Apr 30, 2011)
no assertion criteria providedVCV000151263
2.
GRCh37:
Chr11:196855-5343104
GRCh38:
Chr11:196855-5321874
A-GAMMA3'E, ANO9, AP2A2, ART1, ART5, ASCL2, B4GALNT4, BET1L, BGLT3, BRSK2, C11orf21, C11orf40, CARS1, CARS1-AS1, CD151, CD81, CD81-AS1, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, FAM99A, FAM99B, GATD1, H19, H19-ICR, HBB, HBB-3'HS1, HBB-LCR, HBD, HBE1, HBG1, HBG2, HOTS, HRAS, HS-E1, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, IGF2-AS, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1-AS1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-AS1, LINC01150, LINC01219, LINC02688, LINC02708, LINC02749, LMNTD2, LMNTD2-AS1, LOC101927708, LOC105274310, LOC105376526, LOC106099062, LOC106099063, LOC106099064, LOC106099065, LOC106783508, LOC106799843, LOC106865369, LOC107133510, LOC109623489, LOC109951029, LOC110006319, LOC110008579, LOC110011217, LOC110013311, LOC110121378, LOC111718490, LOC112067719, LOC112067720, LOC112081391, LOC113939920, LOC116216126, LOC116216127, LOC116216128, LOC121392887, LOC121392888, LOC143666, LOC171391, LRRC56, LSP1, MIR210, MIR210HG, MIR4298, MIR4686, MIR4687, MIR483, MIR6743, MIR6744, MIR675, MIR7847, MMP26, MOB2, MRGPRE, MRGPRG, MRGPRG-AS1, MRPL23, MRPL23-AS1, MUC2, MUC5AC, MUC5B, MUC5B-AS1, MUC6, NAP1L4, NLRP6, NUP98, ODF3, OR51A2, OR51A4, OR51A7, OR51B4, OR51C1P, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51L1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B4, OR52E1, OR52E2, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52M1, OR52R1, OSBPL5, PANO1, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PRR33, PSMD13, PTDSS2, RASSF7, RHOG, RIC8A, RNH1, RPLP2, RRM1, SCT, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SNORA52, SNORA54, SNORD131, STIM1, STIM1-AS1, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TRIM21, TRIM68, TRPM5, TSPAN32, TSPAN4, TSSC4, ZNF195
See casesPathogenic
(Aug 13, 2012)
no assertion criteria providedVCV000154823
3.
GRCh37:
Chr11:202758-31747772
GRCh38:
Chr11:202758-31726224
B4GALNT4, PTH, AMPD3, CSRP3-AS1, MIR210HG, STK33, LOC112081400, MRGPRE, OR2D2, OR52D1, LINC02686, OR51F1, MIR610, ZBED5-AS1, CARS1-AS1, OR52B6, SOX6, SNORD14B, OR51B4, MICALCL, OR56A4, ADM, EIF4G2, MIR210, KIF18A, LOC108254681, LINC00678, HBB, OR52K1, TSPAN4, ART1, NAP1L4, LINC02718, A-GAMMA3'E, OR52P1P, MIR7847, TRIM21, INS-IGF2, ANO3, NRIP3, LOC112067720, CNGA4, LOC283299, BDNF-AS, LOC108178983, SNORD14A, PTPN5, TRIM5, LOC112067719, PSMA1, USH1C, MIR4687, WEE1, CRACR2B, PNPLA2, MUC5B, LOC105980005, C11orf58, TEAD1, SPON1, OR2AG1, DENND2B, DEAF1, LOC110121487, ARNTL, NLRP6, OR51Q1, SNORD97, SBF2-AS1, PGAP2, OR51G2, LOC110121483, LOC110006319, E2F8, MUC5B-AS1, ANO9, LINC02683, STIM1-AS1, GAS2, LOC112081405, MIR8070, MRPL17, LOC110121378, MIR6073, CHRNA10, OR51A2, EIF3F, GATD1, MICAL2, OSBPL5, RNF141, CCKBR, SAA2, BTBD10, OR52R1, BRSK2, OR10A4, OR51E2, LOC110121488, POLR2L, LINC02758, SNORA52, KRTAP5-1, LINC02547, C11orf40, TSPAN32, SIRT3, CAVIN3, RIC8A, STIM1, LINC01150, LINC02688, OR51E1, LOC105376526, ARL14EP-DT, LOC644656, LOC102724784, MIR6124, OVCH2, OR52W1, LINC02749, CCDC34, SLC22A18AS, LOC110120926, ARFIP2, DENND5A, LINC02708, MOB2, CD81-AS1, MRGPRX1, PPFIBP2, SAA1, OR52E2, TMEM9B-AS1, LOC112081391, BDNF, LDHC, ZBED5, LINC02751, LOC105980073, KRTAP5-5, SMPD1, LOC106099065, SNORA23, CSRP3, LOC110121434, NRIP3-DT, TMEM41B, HBB-HS-107, OR51D1, LGR4-AS1, LINC02546, DKK3, HBB-3'HS1, IGF2, LINC02548, ANO3-AS1, ABCC8, PLEKHA7, CTSD, LOC112067717, FAR1, DRD4, LOC110121453, HBG1, PSMD13, LOC108178984, ASCL3, IPO7, OR10A6, MIR6744, MRGPRX4, MUC6, SPTY2D1OS, SBF2, LINC01495, OR51J1, TRIM3, BBOX1-AS1, KRTAP5-3, KRTAP5-4, C11orf16, PANO1, OR52N4, OR56A3, RASSF10-DT, MIR4298, PAX6_HS8, LOC110011217, LOC121392889, OR51I2, TALDO1, LDHAL6A, NLRP14, TNNI2, NAV2-AS5, LUZP2, LOC106799843, OR52E1, OR51L1, HS-E1, LOC121392890, SLC25A22, LOC143666, CCDC179, RIC3, OR56B1, LOC107133510, LOC112136092, KCNQ1-AS1, LOC112067712, CHID1, KRTAP5-2, DBX1, LOC106865369, LINC02755, HPS5, RRP8, ELP4, NAV2-AS2, TPH1, NCR3LG1, MUC15, LOC105274310, SYT8, OR6A2, LOC110120947, FIBIN, OR51M1, OR56A1, TMEM9B, SYT9, SLC17A6, CYB5R2, TUB-AS1, IGSF22, LOC101928053, NAV2-AS4, MIR4486, DUSP8, BBOX1, MPPED2-AS1, UBQLNL, HTATIP2, KCNQ1OT1, DNHD1, MRGPRG, OR51G1, OR56A5, RASSF10, DNAJC24, OR2AG2, OR52E4, LOC106736470, LOC121392891, OR52A1, MIR4485, RRM1, TRIM22, FAM99B, LMO1, MUC2, LINC02859, ASCL2, LOC121392888, FHIP1B, DCDC1, LINC02699, OR5P2, LOC109951029, OR52I1, MRGPRG-AS1, OR52H1, LOC110120848, RRAS2, IGF2-AS, CALCB, LOC106099064, INS, TAF10, SAAL1, LOC101927708, TSG101, MYOD1, KCNJ11, LOC171391, LOC113939927, LOC113939924, OR52E8, TSSC4, MRPL23, RPL27A, OR56B2P, CARS1, SLC22A18, PAX6DRR, MIR4694, LOC121392887, FANCF, MIR483, OR52B4, LINC02726, MIR6743, OR52M1, TIMM10B, MRPL23-AS1, LOC112067718, HBE1, NAV2-AS6, OR2D3, OR51B2, MRGPRX2, OR52N1, MIR4686, SNORA54, LOC106099062, IFITM2, OR52E6, C11orf42, OR10A2, OR51C1P, LOC112136094, MTRNR2L8, LOC116216127, LOC108281125, ILK, BGLT3, METTL15, LOC116216126, LOC112067714, KRTAP5-AS1, MIR4299, CALCA, INSC, ZDHHC13, LOC112081404, LMNTD2-AS1, LOC112042781, LINC02709, FAM99A, TRIM68, SAA4, PIK3C2A, SNORD131, RPLP2, LOC100506258, CEND1, USP47, TRL-CAA5-1, H19, LOC110121343, IRAG1, LINC02545, TOLLIP, LOC106783508, OR52N2, OTOG, NELL1, OR51F2, SNORA3A, IFITM3, RASSF7, MIR5691, CDHR5, OR5P3, LOC111982890, ZNF215, LINC02742, LOC110008579, COPB1, OR52E5, LOC111718490, C11orf21, SCT, PHRF1, TOLLIP-DT, IFITM10, TH, OR10A3, RBMXL2, LOC110013311, OR52I2, H19-ICR, AKIP1, HRAS, ADM-DT, GTF2H1, SWAP70, TUB, AP2A2, TPP1, OR51B6, CASC23, OR10A5, OR56B4, PHLDA2, KRTAP5-6, OR51T1, IRF7, GALNT18, SNORA3B, DCHS1, LOC112067713, OR52A5, NAV2, OR52N5, LOC114827852, IMMP1L, PTDSS2, SAA2-SAA4, ZNF195, KCNQ1, TRPM5, LOC112042782, KCNQ1DN, LOC110120922, PRR33, LOC112067715, HBD, LOC112136080, PARVA, LINC01616, SVIP, HOTS, LOC116216129, LINC00958, TMEM86A, LOC105376575, CAND1.11, LIN7C, NUP98, MIR302E, SLC6A5, OR51V1, LOC121392893, LYVE1, MPPED2, LOC112067716, LOC107988023, LMNTD2, CSNK2A3, TRIM66, UBQLN3, IFITM5, OR52J3, FSHB, OR52K2, MRGPRX3, RHOG, CD81, HBB-LCR, LSP1, KCNA4, LOC101928008, LOC109623489, ANO5, PDE3B, TRIM34, LOC112136081, TNNT3, NUCB2, LINC02729, LOC116216128, LRRC56, OR51I1, KCNC1, SCUBE2, LINC02682, SERGEF, RNH1, LOC110121471, MMP26, ART5, TMEM80, OR52B2, MIR3159, BET1L, ARL14EP, PIDD1, LGR4, SIGIRR, OR51A4, LOC113939928, MIR8068, SLC5A12, HPX, LOC113939920, UEVLD, ZNF214, CDKN1C, OR52L1, LDHA, LOC111365162, TRIM6, CD151, RPS13, MIR8087, LOC111413037, HBG2, SPTY2D1, OR51B5, MIR8054, LOC102724957, CYP2R1, LOC121392892, LOC110121340, IRAG1-AS1, SNORD147, LOC106099063, NLRP10, OR51S1, LOC113939921, MIR675, OR51A7, CTR9, OLFML1, ZNF143, LINC01219, MUC5AC, RIC3-DT, APBB1, IFITM1, HBB-HS-111, PRMT3, PGGHG, PKP3, EPS8L2
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059747
4.
GRCh37:
Chr11:446754-18926289
GRCh38:
Chr11:446754-18904742
CALCB, CAND1.11, CARS1, CARS1-AS1, CASC23, CAVIN3, CCKBR, CD151, CD81, CD81-AS1, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CNGA4, COPB1, CRACR2B, CSNK2A3, CTR9, CTSD, CYB5R2, CYP2R1, DCHS1, DEAF1, DENND2B, DENND5A, DKK3, DNHD1, DRD4, DUSP8, EIF3F, EIF4G2, EPS8L2, FAM99A, FAM99B, FAR1, FHIP1B, GALNT18, GATD1, GTF2H1, H19, H19-ICR, HBB, HBB-3'HS1, HBB-HS-107, HBB-HS-111, HBB-LCR, HBD, HBE1, HBG1, HBG2, HOTS, HPS5, HPX, HRAS, HS-E1, IFITM10, IGF2, IGF2-AS, IGSF22, ILK, INS, INS-IGF2, INSC, IPO7, IRAG1, IRAG1-AS1, IRF7, KCNC1, KCNJ11, KCNQ1, KCNQ1-AS1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-AS1, LDHA, LDHAL6A, LDHC, LINC00958, LINC01150, LINC01219, LINC02545, LINC02547, LINC02548, LINC02682, LINC02683, LINC02688, LINC02708, LINC02709, LINC02729, LINC02749, LINC02751, LMNTD2, LMNTD2-AS1, LMO1, LOC100506258, LOC101927708, LOC101928008, LOC101928053, LOC102724784, LOC102724957, LOC105274310, LOC105376526, LOC105376575, LOC106099062, LOC106099063, LOC106099064, LOC106099065, LOC106736470, LOC106783508, LOC106799843, LOC106865369, LOC107133510, LOC107988023, LOC108254681, LOC108281125, LOC109623489, LOC109951029, LOC110006319, LOC110008579, LOC110011217, LOC110013311, LOC110120848, LOC110120922, LOC110120926, LOC110120947, LOC110121340, LOC110121343, LOC110121378, LOC110121434, LOC110121453, LOC110121471, LOC110121483, LOC111413037, LOC111718490, LOC111982890, LOC112042781, LOC112042782, LOC112067712, LOC112067713, LOC112067714, LOC112067715, LOC112067716, LOC112067719, LOC112067720, LOC112081391, LOC112081400, LOC112081404, LOC112081405, LOC112136080, LOC112136081, LOC112136092, LOC112136094, LOC113939920, LOC113939924, LOC113939927, LOC113939928, LOC114827852, LOC116216127, LOC116216128, LOC116216129, LOC121392887, LOC121392888, LOC121392889, LOC121392890, LOC121392891, LOC121392892, LOC143666, LOC171391, LOC283299, LOC644656, LRRC56, LSP1, LYVE1, MICAL2, MICALCL, MIR210, MIR210HG, MIR302E, MIR3159, MIR4298, MIR4299, MIR4485, MIR4686, MIR4687, MIR483, MIR5691, MIR6073, MIR6124, MIR6744, MIR675, MIR7847, MIR8070, MMP26, MOB2, MRGPRE, MRGPRG, MRGPRG-AS1, MRGPRX3, MRGPRX4, MRPL17, MRPL23, MRPL23-AS1, MTRNR2L8, MUC2, MUC5AC, MUC5B, MUC5B-AS1, MUC6, MYOD1, NAP1L4, NCR3LG1, NLRP10, NLRP14, NRIP3, NRIP3-DT, NUCB2, NUP98, OLFML1, OR10A2, OR10A3, OR10A4, OR10A5, OR10A6, OR2AG1, OR2AG2, OR2D2, OR2D3, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51C1P, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51J1, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E1, OR52E2, OR52E4, OR52E5, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52P1P, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B2P, OR56B4, OR5P2, OR5P3, OR6A2, OSBPL5, OTOG, OVCH2, PANO1, PARVA, PDE3B, PGAP2, PHLDA2, PHRF1, PIDD1, PIK3C2A, PLEKHA7, PNPLA2, POLR2L, PPFIBP2, PRR33, PSMA1, PTDSS2, PTH, PTPN5, RASSF10, RASSF10-DT, RASSF7, RBMXL2, RHOG, RIC3, RIC3-DT, RNF141, RNH1, RPL27A, RPLP2, RPS13, RRAS2, RRM1, RRP8, SAA1, SAA2, SAA2-SAA4, SAA4, SAAL1, SBF2, SBF2-AS1, SCT, SCUBE2, SERGEF, SLC22A18, SLC22A18AS, SLC25A22, SMPD1, SNORA23, SNORA3A, SNORA3B, SNORA52, SNORA54, SNORD131, SNORD147, SNORD14A, SNORD14B, SNORD97, SOX6, SPON1, SPTY2D1, SPTY2D1OS, STIM1, STIM1-AS1, STK33, SWAP70, SYT8, SYT9, TAF10, TALDO1, TEAD1, TH, TIMM10B, TMEM41B, TMEM80, TMEM86A, TMEM9B, TMEM9B-AS1, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TPH1, TPP1, TRIM21, TRIM22, TRIM3, TRIM34, TRIM5, TRIM6, TRIM66, TRIM68, TRL-CAA5-1, TRPM5, TSG101, TSPAN32, TSPAN4, TSSC4, TUB, TUB-AS1, UBQLN3, UBQLNL, UEVLD, USH1C, USP47, WEE1, ZBED5, ZBED5-AS1, ZNF143, ZNF195, ZNF214, ZNF215, A-GAMMA3'E, ABCC8, ADM, ADM-DT, AKIP1, AMPD3, AP2A2, APBB1, ARFIP2, ARNTL, ART1, ART5, ASCL2, ASCL3, BGLT3, BRSK2, BTBD10, C11orf16, C11orf21, C11orf40, C11orf42, C11orf58, CALCA
See casesPathogenic
(Apr 30, 2010)
no assertion criteria providedVCV000144515
5.
GRCh37:
Chr11:3766291-7867604
GRCh38:
Chr11:3745061-7846057
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059750
6.
GRCh37:
Chr11:5239576-5247296
GRCh38:
Chr11:5218346-5226066
HBB, LOC107133510, LOC110006319beta ThalassemiaPathogenic
(Nov 25, 2019)
no assertion criteria providedVCV000869214
7.
GRCh37:
Chr11:5245533-5249020
GRCh38:
Chr11:5224303-5227790
HBB, LOC106099062, LOC107133510, LOC110006319beta ThalassemiaPathogenic
(Mar 1, 2021)
no assertion criteria providedVCV001048666
8.
GRCh37:
Chr11:5246388-5248429
GRCh38:
Chr11:5225158-5227199
HBB, LOC106099062, LOC107133510, LOC110006319beta ThalassemiaPathogenic
(Nov 25, 2019)
no assertion criteria providedVCV000869247
9.
GRCh37:
Chr11:5246475
GRCh38:
Chr11:5225245
HBB, LOC107133510, LOC110006319not specifiedBenigncriteria provided, single submitterVCV000256343
10.
GRCh37:
Chr11:5246486-5247105
GRCh38:
Chr11:5225256-5225875
HBB, LOC107133510, LOC110006319Beta thalassemia majorPathogenic
(Mar 19, 2020)
criteria provided, single submitterVCV000982010
11.
GRCh37:
Chr11:5246512
GRCh38:
Chr11:5225282
HBB, LOC107133510, LOC110006319not specified, not providedBenign
(Nov 12, 2018)
criteria provided, multiple submitters, no conflictsVCV000256342
12.
GRCh37:
Chr11:5246532
GRCh38:
Chr11:5225302
HBB, LOC110006319, LOC107133510not providedBenign
(Dec 3, 2020)
criteria provided, single submitterVCV000703525
13.
GRCh37:
Chr11:5246582
GRCh38:
Chr11:5225352
LOC110006319, LOC107133510, HBBnot providedLikely benign
(Nov 26, 2020)
criteria provided, single submitterVCV000704388
14.
GRCh37:
Chr11:5246595-5247135
GRCh38:
Chr11:5225365-5225905
HBB, LOC107133510, LOC110006319not providedPathogenic
(Dec 24, 2019)
criteria provided, single submitterVCV000643148
15.
GRCh37:
Chr11:5246595
GRCh38:
Chr11:5225365
HBB, LOC107133510, LOC110006319beta Thalassemia, not provided, not specified
Benign
(Nov 25, 2020)
criteria provided, multiple submitters, no conflictsVCV000256341
16.
GRCh37:
Chr11:5246597
GRCh38:
Chr11:5225367
HBB, LOC107133510, LOC110006319not specified, not providedLikely benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000256340
17.
GRCh37:
Chr11:5246619-5247237
GRCh38:
Chr11:5225389-5226007
LOC107133510, LOC110006319, HBBbeta ThalassemiaPathogenic
(Nov 25, 2019)
no assertion criteria providedVCV000038701
18.
GRCh37:
Chr11:5246646
GRCh38:
Chr11:5225416
LOC107133510, LOC110006319, HBBnot specified, beta Thalassemia, not provided
Benign
(Dec 7, 2020)
criteria provided, multiple submitters, no conflictsVCV000702013
19.
GRCh37:
Chr11:5246662
GRCh38:
Chr11:5225432
HBB, LOC107133510, LOC110006319beta ThalassemiaLikely benign
(Nov 21, 2017)
criteria provided, single submitterVCV000549922
20.
GRCh37:
Chr11:5246668
GRCh38:
Chr11:5225438
LOC110006319, LOC107133510, HBBnot providedUncertain significance
(Aug 16, 2019)
criteria provided, single submitterVCV000801182
21.
GRCh37:
Chr11:5246690
GRCh38:
Chr11:5225460
LOC107133510, HBB, LOC110006319none provided, not provided, not specified
Benign/Likely benign
(Nov 1, 2020)
criteria provided, multiple submitters, no conflictsVCV000705908
22.
GRCh37:
Chr11:5246696-5246956
GRCh38:
Chr11:5225466-5225726
LOC110006319, HBB, LOC107133510not providedPathogenic
(Dec 16, 2019)
criteria provided, single submitterVCV000862436
23.
GRCh37:
Chr11:5246696-5247105
GRCh38:
Chr11:5225466-5225875
LOC110006319, HBB, LOC107133510not providedPathogenic
(Nov 26, 2018)
criteria provided, single submitterVCV000660167
24.
GRCh37:
Chr11:5246696
GRCh38:
Chr11:5225466
LOC107133510, LOC110006319, HBBnot specifiedUncertain significance
(Nov 4, 2016)
criteria provided, single submitterVCV000439130
25.
GRCh37:
Chr11:5246699
GRCh38:
Chr11:5225469
HBB, LOC107133510, LOC110006319not providedUncertain significance
(Oct 1, 2019)
criteria provided, single submitterVCV000801181
26.
GRCh37:
Chr11:5246711-5246712
GRCh38:
Chr11:5225481-5225482
HBB, LOC107133510, LOC110006319not provided, not specifiedUncertain significance
(Sep 4, 2018)
criteria provided, multiple submitters, no conflictsVCV000439131
27.
GRCh37:
Chr11:5246712-5246713
GRCh38:
Chr11:5225482-5225483
HBB, LOC107133510, LOC110006319beta ThalassemiaPathogenic
(Nov 25, 2019)
no assertion criteria providedVCV000869259
28.
GRCh37:
Chr11:5246713
GRCh38:
Chr11:5225483
HBB, LOC107133510, LOC110006319not providedUncertain significance
(Apr 8, 2016)
criteria provided, single submitterVCV000495967
29.
GRCh37:
Chr11:5246714-5246718
GRCh38:
Chr11:5225484-5225488
HBB, LOC107133510, LOC110006319beta Thalassemia, Beta-plus-thalassemiaPathogenic
(Nov 25, 2019)
no assertion criteria providedVCV000015506
30.
GRCh37:
Chr11:5246715
GRCh38:
Chr11:5225485
HBB, LOC107133510, LOC110006319beta Thalassemia, Beta-plus-thalassemiaPathogenic/Likely pathogenic
(Jul 19, 2021)
criteria provided, multiple submitters, no conflictsVCV000015473
31.
GRCh37:
Chr11:5246716
GRCh38:
Chr11:5225486
HBB, LOC107133510, LOC110006319Beta-plus-thalassemiaPathogenic
(Jul 20, 2016)
no assertion criteria providedVCV000015476
32.
GRCh37:
Chr11:5246717-5246718
GRCh38:
Chr11:5225487-5225488
LOC110006319, HBB, LOC107133510beta ThalassemiaLikely pathogenic
(Dec 20, 2018)
criteria provided, single submitterVCV000632843
33.
GRCh37:
Chr11:5246717
GRCh38:
Chr11:5225487
HBB, LOC107133510, LOC110006319beta Thalassemia, Hemoglobinopathy, Beta-plus-thalassemia,
not provided
Pathogenic
(Oct 27, 2020)
criteria provided, multiple submitters, no conflictsVCV000015488
34.
GRCh37:
Chr11:5246718
GRCh38:
Chr11:5225488
HBB, LOC107133510, LOC110006319Hb SS disease, Beta-plus-thalassemia, not provided,
none provided, beta Thalassemia
Pathogenic
(Apr 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000036332
35.
GRCh37:
Chr11:5246718
GRCh38:
Chr11:5225488
HBB, LOC107133510, LOC110006319Beta-plus-thalassemiaPathogenic
(Aug 1, 2004)
no assertion criteria providedVCV000015616
36.
GRCh37:
Chr11:5246720
GRCh38:
Chr11:5225490
LOC110006319, HBB, LOC107133510beta ThalassemiaPathogenic
(Nov 25, 2019)
no assertion criteria providedVCV000869258
37.
GRCh37:
Chr11:5246723-5246735
GRCh38:
Chr11:5225493-5225505
LOC110006319, HBB, LOC107133510beta ThalassemiaPathogenic
(Nov 25, 2019)
no assertion criteria providedVCV000869261
38.
GRCh37:
Chr11:5246724
GRCh38:
Chr11:5225494
HBB, LOC107133510, LOC110006319not specified, not providedUncertain significance
(Aug 24, 2021)
criteria provided, multiple submitters, no conflictsVCV000618161
39.
GRCh37:
Chr11:5246726
GRCh38:
Chr11:5225496
LOC107133510, LOC110006319, HBBnot specifiedUncertain significance
(Apr 12, 2019)
criteria provided, single submitterVCV000495966
40.
GRCh37:
Chr11:5246731
GRCh38:
Chr11:5225501
HBB, LOC107133510, LOC110006319not specifiedUncertain significance
(Feb 15, 2021)
criteria provided, multiple submitters, no conflictsVCV000811372
41.
GRCh37:
Chr11:5246732
GRCh38:
Chr11:5225502
HBB, LOC107133510, LOC110006319not specified, none provided, not provided,
beta Thalassemia
Conflicting interpretations of pathogenicity
(Dec 4, 2020)
criteria provided, conflicting interpretationsVCV000036331
42.
GRCh37:
Chr11:5246735
GRCh38:
Chr11:5225505
HBB, LOC107133510, LOC110006319not specified, not providedUncertain significance
(Jun 25, 2019)
criteria provided, multiple submitters, no conflictsVCV000619851
43.
GRCh37:
Chr11:5246737
GRCh38:
Chr11:5225507
HBB, LOC107133510, LOC110006319not specifiedUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000036330
44.
GRCh37:
Chr11:5246750
GRCh38:
Chr11:5225520
LOC110006319, HBB, LOC107133510not specifiedUncertain significance
(Dec 30, 2016)
criteria provided, single submitterVCV000439780
45.
GRCh37:
Chr11:5246754
GRCh38:
Chr11:5225524
HBB, LOC107133510, LOC110006319none provided, not specifiedUncertain significance
(Feb 15, 2021)
criteria provided, multiple submitters, no conflictsVCV000993837
46.
GRCh37:
Chr11:5246755
GRCh38:
Chr11:5225525
HBB, LOC107133510, LOC110006319not specifiedUncertain significance
(Oct 30, 2017)
criteria provided, single submitterVCV000632855
47.
GRCh37:
Chr11:5246761
GRCh38:
Chr11:5225531
HBB, LOC107133510, LOC110006319not providedUncertain significance
(Jul 28, 2016)
criteria provided, single submitterVCV000495970
48.
GRCh37:
Chr11:5246763
GRCh38:
Chr11:5225533
LOC110006319, HBB, LOC107133510not specifiedUncertain significance
(Nov 30, 2018)
criteria provided, single submitterVCV000632853
49.
GRCh37:
Chr11:5246766
GRCh38:
Chr11:5225536
HBB, LOC107133510, LOC110006319not provided, not specifiedUncertain significance
(Apr 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000495969
50.
GRCh37:
Chr11:5246769
GRCh38:
Chr11:5225539
LOC110006319, HBB, LOC107133510Hemoglobin E, Hb SS disease, Fetal hemoglobin quantitative trait locus 1,
beta Thalassemia
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000878836
51.
GRCh37:
Chr11:5246772
GRCh38:
Chr11:5225542
HBB, LOC107133510, LOC110006319not specified, not providedConflicting interpretations of pathogenicity
(Feb 18, 2021)
criteria provided, conflicting interpretationsVCV000495968
52.
GRCh37:
Chr11:5246772
GRCh38:
Chr11:5225542
LOC107133510, HBB, LOC110006319Fetal hemoglobin quantitative trait locus 1, beta Thalassemia, Hemoglobin E,
Hb SS disease
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000305000
53.
GRCh37:
Chr11:5246775
GRCh38:
Chr11:5225545
HBB, LOC107133510, LOC110006319Fetal hemoglobin quantitative trait locus 1, beta Thalassemia, Hemoglobin E,
Hb SS disease
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000305001
54.
GRCh37:
Chr11:5246780
GRCh38:
Chr11:5225550
HBB, LOC107133510, LOC110006319not specified, not providedUncertain significance
(Mar 18, 2020)
criteria provided, multiple submitters, no conflictsVCV000633254
55.
GRCh37:
Chr11:5246781
GRCh38:
Chr11:5225551
HBB, LOC107133510, LOC110006319not specifiedUncertain significance
(Jan 7, 2021)
criteria provided, single submitterVCV000996256
56.
GRCh37:
Chr11:5246781
GRCh38:
Chr11:5225551
HBB, LOC107133510, LOC110006319not specifiedUncertain significance
(Oct 20, 2020)
criteria provided, single submitterVCV000984451
57.
GRCh37:
Chr11:5246794
GRCh38:
Chr11:5225564
HBB, LOC107133510, LOC110006319not providedLikely benign
(Nov 17, 2020)
criteria provided, single submitterVCV001127267
58.
GRCh37:
Chr11:5246795
GRCh38:
Chr11:5225565
LOC107133510, LOC110006319, HBBnot specifiedUncertain significance
(Feb 20, 2018)
criteria provided, single submitterVCV000633252
59.
GRCh37:
Chr11:5246796
GRCh38:
Chr11:5225566
HBB, LOC107133510, LOC110006319beta ThalassemiaPathogenic
(Nov 25, 2019)
no assertion criteria providedVCV000869260
60.
GRCh37:
Chr11:5246803
GRCh38:
Chr11:5225573
HBB, LOC107133510, LOC110006319not providedUncertain significance
(Oct 26, 2017)
criteria provided, single submitterVCV000619684
61.
GRCh37:
Chr11:5246810
GRCh38:
Chr11:5225580
HBB, LOC110006319, LOC107133510beta Thalassemia, Hemoglobin E, Hb SS disease,
Fetal hemoglobin quantitative trait locus 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000879417
62.
GRCh37:
Chr11:5246822
GRCh38:
Chr11:5225592
HBB, LOC107133510, LOC110006319Hemoglobinopathy, beta ThalassemiaPathogenic
(Jun 6, 2018)
criteria provided, single submitterVCV000393707
63.
GRCh37:
Chr11:5246828-5246956
GRCh38:
Chr11:5225598-5225726
HBB, LOC107133510, LOC110006319not providedPathogenic
(Oct 15, 2019)
criteria provided, single submitterVCV000988273
64.
GRCh37:
Chr11:5246830-5246831
GRCh38:
Chr11:5225600-5225601
HBB, LOC107133510, LOC110006319not provided, HEMOGLOBIN TAK, Hemoglobinopathy
Pathogenic/Likely pathogenic
(Apr 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000439161
65.
GRCh37:
Chr11:5246831
GRCh38:
Chr11:5225601
HBB, LOC107133510, LOC110006319H147QHEMOGLOBIN KODAIRA IIother
(Dec 12, 2017)
no assertion criteria providedVCV000015601
66.
GRCh37:
Chr11:5246831
GRCh38:
Chr11:5225601
HBB, LOC107133510, LOC110006319H147QHEMOGLOBIN KODAIRAother
(Jul 20, 2016)
no assertion criteria providedVCV000015498
67.
GRCh37:
Chr11:5246832
GRCh38:
Chr11:5225602
HBB, LOC107133510, LOC110006319H147PHEMOGLOBIN YORK, Erythrocytosis 6, familialPathogenic, other
(Dec 12, 2017)
no assertion criteria providedVCV000015395
68.
GRCh37:
Chr11:5246832
GRCh38:
Chr11:5225602
HBB, LOC107133510, LOC110006319H147LHEMOGLOBIN COWTOWN, Erythrocytosis 6, familialPathogenic, other
(Dec 12, 2017)
no assertion criteria providedVCV000015144
69.
GRCh37:
Chr11:5246832
GRCh38:
Chr11:5225602
HBB, LOC107133510, LOC110006319H147RHEMOGLOBIN COCHIN-PORT ROYALother
(Dec 12, 2017)
no assertion criteria providedVCV000015139
70.
GRCh37:
Chr11:5246833
GRCh38:
Chr11:5225603
HBB, LOC107133510, LOC110006319H147YHEMOGLOBIN BOLOGNA-ST. ORSOLAother
(Dec 12, 2017)
no assertion criteria providedVCV000015577
71.
GRCh37:
Chr11:5246833
GRCh38:
Chr11:5225603
HBB, LOC107133510, LOC110006319H147DHEMOGLOBIN HIROSHIMA, Erythrocytosis 6, familialPathogenic, other
(Dec 12, 2017)
no assertion criteria providedVCV000015200
72.
GRCh37:
Chr11:5246834
GRCh38:
Chr11:5225604
HBB, LOC107133510, LOC110006319Y146*HEMOGLOBIN MCKEES ROCKS, Erythrocytosis 6, familialPathogenic, other
(Dec 12, 2017)
no assertion criteria providedVCV000015265
73.
GRCh37:
Chr11:5246835
GRCh38:
Chr11:5225605
HBB, LOC107133510, LOC110006319Y146CErythrocytosis 6, familial, not provided, HEMOGLOBIN RAINIER,
none provided
Pathogenic
(Apr 21, 2020)
criteria provided, multiple submitters, no conflictsVCV000015322
74.
GRCh37:
Chr11:5246835-5246836
GRCh38:
Chr11:5225605-5225606
HBB, LOC107133510, LOC110006319Y146fsHEMOGLOBIN CRANSTONother
(Dec 12, 2017)
no assertion criteria providedVCV000015145
75.
GRCh37:
Chr11:5246836
GRCh38:
Chr11:5225606
HBB, LOC107133510, LOC110006319Y146NHemoglobinopathyPathogenic
(May 30, 2018)
criteria provided, single submitterVCV000633256
76.
GRCh37:
Chr11:5246836
GRCh38:
Chr11:5225606
HBB, LOC107133510, LOC110006319Y146HHEMOGLOBIN BETHESDA, Erythrocytosis 6, familial, none provided
Pathogenic
(Jan 2, 2020)
criteria provided, single submitterVCV000015112
77.
GRCh37:
Chr11:5246837
GRCh38:
Chr11:5225607
HBB, LOC107133510, LOC110006319not providedLikely benign
(Oct 14, 2020)
criteria provided, single submitterVCV001104204
78.
GRCh37:
Chr11:5246837
GRCh38:
Chr11:5225607
HBB, LOC107133510, LOC110006319K145Nnot providednot providedno assertion providedVCV000156328
79.
GRCh37:
Chr11:5246837
GRCh38:
Chr11:5225607
HBB, LOC107133510, LOC110006319K145NHEMOGLOBIN ANDREW-MINNEAPOLIS, Erythrocytosis 6, familial, not specified
Pathogenic
(Jan 27, 2019)
criteria provided, single submitterVCV000015096
80.
GRCh37:
Chr11:5246838
GRCh38:
Chr11:5225608
HBB, LOC107133510, LOC110006319K145fsHEMOGLOBIN TRENTOother
(Dec 12, 2017)
no assertion criteria providedVCV000015604
81.
GRCh37:
Chr11:5246838
GRCh38:
Chr11:5225608
HBB, LOC107133510, LOC110006319K145MHEMOGLOBIN BARBIZONother
(Dec 12, 2017)
no assertion criteria providedVCV000015576
82.
GRCh37:
Chr11:5246839
GRCh38:
Chr11:5225609
LOC110006319, LOC107133510, HBBK145*no interpretation for the single variantno interpretation for the single variantVCV000478887
83.
GRCh37:
Chr11:5246839
Chr11:5246848
GRCh38:
Chr11:5225609
Chr11:5225618
LOC110006319, LOC107133510, HBB, HBB, LOC110006319, LOC107133510K145*, L142VHEMOGLOBIN KOCHIother
(Dec 12, 2017)
no assertion criteria providedVCV000446749
84.
GRCh37:
Chr11:5246839-5246847
GRCh38:
Chr11:5225609-5225617
HBB, LOC107133510, LOC110006319HEMOGLOBIN BIRMINGHAMother
(Dec 12, 2017)
no assertion criteria providedVCV000015478
85.
GRCh37:
Chr11:5246839
GRCh38:
Chr11:5225609
LOC110006319, HBB, LOC107133510K145EHEMOGLOBIN MITOother
(Dec 12, 2017)
no assertion criteria providedVCV000015268
86.
GRCh37:
Chr11:5246840
GRCh38:
Chr11:5225610
HBB, LOC107133510, LOC110006319not specified, not provided, none provided,
beta Thalassemia
Benign/Likely benign
(Dec 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000036329
87.
GRCh37:
Chr11:5246840
GRCh38:
Chr11:5225610
HBB, LOC107133510, LOC110006319H144QErythrocytosis 6, familialPathogenic
(Jan 1, 1987)
no assertion criteria providedVCV000015250
88.
GRCh37:
Chr11:5246841
GRCh38:
Chr11:5225611
LOC110006319, LOC107133510, HBBH144Pnot specified, Erythrocytosis 6, familial, HEMOGLOBIN SYRACUSE
Pathogenic
(Jun 20, 2019)
criteria provided, single submitterVCV000015365
89.
GRCh37:
Chr11:5246841
GRCh38:
Chr11:5225611
LOC107133510, LOC110006319, HBBH144fsHEMOGLOBIN SAVERNEother
(Dec 12, 2017)
no assertion criteria providedVCV000015345
90.
GRCh37:
Chr11:5246841
GRCh38:
Chr11:5225611
HBB, LOC107133510, LOC110006319H144RHEMOGLOBIN ABRUZZO, not provided, none provided
Pathogenic/Likely pathogenic
(Jun 23, 2020)
criteria provided, multiple submitters, no conflictsVCV000015090
91.
GRCh37:
Chr11:5246842-5246843
GRCh38:
Chr11:5225612-5225613
HBB, LOC107133510, LOC110006319H144fsbeta ThalassemiaPathogenic
(Nov 25, 2019)
no assertion criteria providedVCV000869318
92.
GRCh37:
Chr11:5246842
GRCh38:
Chr11:5225612
HBB, LOC107133510, LOC110006319H144Ynot specified, none providedLikely benign
(May 4, 2021)
criteria provided, multiple submitters, no conflictsVCV000015565
93.
GRCh37:
Chr11:5246842
GRCh38:
Chr11:5225612
HBB, LOC107133510, LOC110006319H144DHEMOGLOBIN RANCHO MIRAGEother
(Dec 12, 2017)
no assertion criteria providedVCV000015503
94.
GRCh37:
Chr11:5246844
GRCh38:
Chr11:5225614
LOC110006319, LOC107133510, HBBA143Vno interpretation for the single variantno interpretation for the single variantVCV000478854
95.
GRCh37:
Chr11:5246844
GRCh38:
Chr11:5225614
LOC110006319, LOC107133510, HBBA143DHEMOGLOBIN OHIO, Erythrocytosis 6, familialPathogenic, other
(Dec 12, 2017)
no assertion criteria providedVCV000015294
96.
GRCh37:
Chr11:5246845
GRCh38:
Chr11:5225615
HBB, LOC107133510, LOC110006319A143Tnot providedUncertain significance
(Nov 18, 2018)
criteria provided, single submitterVCV000801193
97.
GRCh37:
Chr11:5246845
GRCh38:
Chr11:5225615
HBB, LOC107133510, LOC110006319A143PHEMOGLOBIN TOYOAKEother
(Dec 12, 2017)
no assertion criteria providedVCV000015376
98.
GRCh37:
Chr11:5246846
GRCh38:
Chr11:5225616
HBB, LOC107133510, LOC110006319not providedLikely benign
(Sep 3, 2019)
criteria provided, single submitterVCV001121500
99.
GRCh37:
Chr11:5246846-5246848
GRCh38:
Chr11:5225616-5225618
HBB, LOC107133510, LOC110006319L142delHEMOGLOBIN COVENTRYother
(Dec 12, 2017)
no assertion criteria providedVCV000015143
100.
GRCh37:
Chr11:5246847
GRCh38:
Chr11:5225617
HBB, LOC107133510, LOC110006319L142RHEMOGLOBIN OLMSTEDother
(Dec 12, 2017)
no assertion criteria providedVCV000015298
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