| - 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, CIMAP1A, CNGA4, CRACR2B, CTSD, CYB5R2, DCHS1, DEAF1, DENND2B, DENND2B-AS1, DENND5A, DNHD1, DRD4, DUSP8, EIF3F, EPS8L2, FAM99A, FAM99B, FHIP1B, GATD1, GATD1-DT, H19, H19-ICR, HBB, HBB-3'HS1, HBB-HS-107, HBB-HS-111, HBB-LCR, HBD, 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, LOC101927708, LOC101928008, LOC105274310, LOC105369149, 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, LOC121832782, LOC121832783, LOC121832784, LOC121832785, LOC121832786, LOC124418409, LOC124418411, LOC124418412, LOC124418413, LOC124418414, LOC124418415, LOC124418416, LOC124418418, LOC124418419, LOC124418420, LOC124418421, LOC124418422, LOC124418423, LOC124418426, LOC124421482, LOC124421483, LOC124421484, LOC124421485, LOC124421486, LOC124902806, LOC126861108, LOC126861109, LOC126861110, LOC126861111, LOC126861112, LOC126861113, LOC126861114, LOC126861115, LOC126861116, LOC126861117, LOC126861118, LOC126861119, LOC126861120, LOC126861121, LOC126861122, LOC126861123, LOC126861124, LOC126861125, LOC126861126, LOC126861127, LOC126861128, LOC126861129, LOC126861130, LOC126861131, LOC126861132, LOC126861133, LOC126861134, LOC126861135, LOC126861136, LOC126861137, LOC126861138, LOC126861139, LOC143666, 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, 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, OR52P1, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B2P, OR56B4, OR5P2, OR5P3, OR6A2, OSBPL5, OVCH2, PANO1, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PPFIBP2, PRADX, 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, SSU72L1, SSU72L2, SSU72L3, SSU72L4, SSU72L5, STIM1, STIM1-AS1, STK33, SWAP70, SYT8, SYT9, SYT9-AS1, 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 cases | Pathogenic (Apr 30, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr11:196855-2137415
- GRCh38:
- Chr11:196855-2116185
| ANO9, AP2A2, B4GALNT4, BET1L, BRSK2, CD151, CDHR5, CEND1, CHID1, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, FAM99A, FAM99B, GATD1, GATD1-DT, IFITM10, H19, H19-ICR, HOTS, HRAS, IFITM1, IFITM2, IFITM3, IFITM5, IRF7, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-AS1, LINC01150, LINC01219, LINC02688, LINC02708, LMNTD2, LMNTD2-AS1, LOC105274310, LOC110121378, LOC111718490, LOC116216126, LOC121392887, LOC121392888, LOC124418409, LOC124418411, LOC124418412, LOC124418413, LOC126861108, LOC126861109, LOC126861110, LOC126861111, LOC126861112, LOC126861113, LOC126861114, LOC143666, LRRC56, LSP1, MIR210, MIR210HG, MIR4298, MIR6743, MIR6744, MIR675, MIR7847, MOB2, MRPL23, MRPL23-AS1, MUC2, MUC5AC, MUC5B, MUC5B-AS1, MUC6, NLRP6, ODF3, PANO1, PGGHG, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PRADX, PRR33, PSMD13, PTDSS2, RASSF7, RIC8A, RNH1, RPLP2, SCT, SIGIRR, SIRT3, SLC25A22, SNORA52, SNORD131, SYT8, TALDO1, TMEM80, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TSPAN4 | | See cases | Pathogenic (Aug 13, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr11:196855-5343104
- GRCh38:
- Chr11:196855-5321874
| 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, LOC121832782, LOC121832783, LOC124418409, LOC124418411, LOC124418412, LOC124418413, LOC124418414, LOC124418415, LOC124418416, LOC124418418, LOC124418419, LOC124418420, LOC124418421, LOC126861108, LOC126861109, LOC126861110, LOC126861111, LOC126861112, LOC126861113, LOC126861114, LOC126861115, LOC126861116, LOC126861117, LOC126861118, LOC143666, 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, PRADX, PRR33, PSMD13, PTDSS2, RASSF7, RHOG, RIC8A, RNH1, RPLP2, RRM1, SCT, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SNORA52, SNORA54, SNORD131, SSU72L1, SSU72L2, SSU72L3, SSU72L4, SSU72L5, STIM1, STIM1-AS1, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TRIM21, TRIM68, TRPM5, TSPAN32, TSPAN4, TSSC4, ZNF195, 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, GATD1-DT, H19, H19-ICR | | See cases | Pathogenic (Aug 13, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr11:196966-3398307
- GRCh38:
- Chr11:196966-3377077
| ANO9, AP2A2, ASCL2, B4GALNT4, BET1L, BRSK2, C11orf21, CARS1, CARS1-AS1, CD151, CD81, CD81-AS1, CDHR5, CDKN1C, CEND1, CHID1, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, FAM99A, FAM99B, GATD1, GATD1-DT, H19, H19-ICR, HOTS, HRAS, 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, LMNTD2, LMNTD2-AS1, LOC105274310, LOC106783508, LOC106799843, LOC109623489, LOC110121378, LOC111718490, LOC112067719, LOC113939920, LOC116216126, LOC116216127, LOC121392887, LOC121392888, LOC124418409, LOC124418411, LOC124418412, LOC124418413, LOC124418414, LOC124418415, LOC124418416, LOC124418418, LOC126861108, LOC126861109, LOC126861110, LOC126861111, LOC126861112, LOC126861113, LOC126861114, LOC126861115, LOC143666, LRRC56, LSP1, MIR210, MIR210HG, MIR4298, MIR4686, MIR483, MIR6743, MIR6744, MIR675, MIR7847, MOB2, MRGPRE, MRGPRG, MRGPRG-AS1, MRPL23, MRPL23-AS1, MUC2, MUC5AC, MUC5B, MUC5B-AS1, MUC6, NAP1L4, NLRP6, ODF3, OSBPL5, PANO1, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PRADX, PRR33, PSMD13, PTDSS2, RASSF7, RIC8A, RNH1, RPLP2, SCT, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SNORA52, SNORA54, SNORD131, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TRPM5, TSPAN32, TSPAN4, TSSC4, ZNF195 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr11:196966-4456574
- GRCh38:
- Chr11:196966-4435344
| ANO9, AP2A2, ART1, ART5, ASCL2, B4GALNT4, BET1L, BRSK2, C11orf21, CARS1, CARS1-AS1, CD151, CD81, CD81-AS1, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, FAM99A, FAM99B, GATD1, GATD1-DT, H19, H19-ICR, HOTS, HRAS, 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, LOC106783508, LOC106799843, LOC106865369, LOC109623489, LOC110121378, LOC111718490, LOC112067719, LOC112067720, LOC112081391, LOC113939920, LOC116216126, LOC116216127, LOC121392887, LOC121392888, LOC121832782, LOC121832783, LOC124418409, LOC124418411, LOC124418412, LOC124418413, LOC124418414, LOC124418415, LOC124418416, LOC124418418, LOC124418419, LOC124418420, LOC124418421, LOC126861108, LOC126861109, LOC126861110, LOC126861111, LOC126861112, LOC126861113, LOC126861114, LOC126861115, LOC126861116, LOC143666, LRRC56, LSP1, MIR210, MIR210HG, MIR4298, MIR4686, MIR4687, MIR483, MIR6743, MIR6744, MIR675, MIR7847, MOB2, MRGPRE, MRGPRG, MRGPRG-AS1, MRPL23, MRPL23-AS1, MUC2, MUC5AC, MUC5B, MUC5B-AS1, MUC6, NAP1L4, NLRP6, NUP98, ODF3, OR52B4, OSBPL5, PANO1, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PRADX, PRR33, PSMD13, PTDSS2, RASSF7, RHOG, RIC8A, RNH1, RPLP2, RRM1, SCT, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SNORA52, SNORA54, SNORD131, SSU72L1, SSU72L2, SSU72L3, SSU72L4, SSU72L5, STIM1, STIM1-AS1, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TRIM21, TRPM5, TSPAN32, TSPAN4, TSSC4, ZNF195 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr11:218365-3398307
- GRCh38:
- Chr11:218365-3377077
| ANO9, AP2A2, ASCL2, B4GALNT4, BRSK2, C11orf21, CARS1, CARS1-AS1, CD151, CD81, CD81-AS1, CDHR5, CDKN1C, CEND1, CHID1, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, FAM99A, FAM99B, GATD1, GATD1-DT, H19, H19-ICR, HOTS, LINC02688, HRAS, 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, LINC02708, LMNTD2, LMNTD2-AS1, LOC105274310, LOC106783508, LOC106799843, LOC109623489, LOC110121378, LOC111718490, LOC112067719, LOC113939920, LOC116216126, LOC116216127, LOC121392887, LOC121392888, LOC124418409, LOC124418411, LOC124418412, LOC124418413, LOC124418414, LOC124418415, LOC124418416, LOC124418418, LOC126861108, LOC126861109, LOC126861110, LOC126861111, LOC126861112, LOC126861113, LOC126861114, LOC126861115, LOC143666, LRRC56, LSP1, MIR210, MIR210HG, MIR4298, MIR4686, MIR483, MIR6744, MIR675, MIR7847, MOB2, MRGPRE, MRGPRG, MRGPRG-AS1, MRPL23, MRPL23-AS1, MUC2, MUC5AC, MUC5B, MUC5B-AS1, MUC6, NAP1L4, NLRP6, OSBPL5, PANO1, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PRADX, PRR33, PSMD13, PTDSS2, RASSF7, RNH1, RPLP2, SCT, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SNORA52, SNORA54, SNORD131, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TRPM5, TSPAN32, TSPAN4, TSSC4, ZNF195 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr11:446754-18926289
- GRCh38:
- Chr11:446754-18904742
| A-GAMMA3'E, ABCC8, ADM, ADM-DT, AKIP1, AMPD3, AP2A2, APBB1, ARFIP2, ART1, ART5, ASCL2, ASCL3, BGLT3, BMAL1, BRSK2, BTBD10, C11orf16, C11orf21, C11orf40, C11orf42, C11orf58, CALCA, 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, DENND2B-AS1, DENND5A, DKK3, DNHD1, DRD4, DUSP8, EIF3F, EIF4G2, EPS8L2, FAM99A, FAM99B, FAR1, FHIP1B, GALNT18, GATD1, GATD1-DT, 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, LINC02752, LMNTD2, LMNTD2-AS1, LMO1, LOC101927708, LOC101928008, LOC101928053, LOC105274310, LOC105369149, LOC105376526, 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, LOC121832782, LOC121832783, LOC121832784, LOC121832785, LOC121832786, LOC121832787, LOC121832788, LOC124418411, LOC124418412, LOC124418413, LOC124418414, LOC124418415, LOC124418416, LOC124418418, LOC124418419, LOC124418420, LOC124418421, LOC124418422, LOC124418423, LOC124418426, LOC124421482, LOC124421483, LOC124421484, LOC124421485, LOC124421486, LOC124421487, LOC124421488, LOC124421489, LOC124421490, LOC124421491, LOC124421492, LOC124421493, LOC124421494, LOC124421495, LOC124421496, LOC124421497, LOC124421498, LOC124421499, LOC124421500, LOC124421501, LOC124421502, LOC124421503, LOC124902806, LOC126861109, LOC126861110, LOC126861111, LOC126861112, LOC126861113, LOC126861114, LOC126861115, LOC126861116, LOC126861117, LOC126861118, LOC126861119, LOC126861120, LOC126861121, LOC126861122, LOC126861123, LOC126861124, LOC126861125, LOC126861126, LOC126861127, LOC126861128, LOC126861129, LOC126861130, LOC126861131, LOC126861132, LOC126861133, LOC126861134, LOC126861135, LOC126861136, LOC126861137, LOC126861138, LOC126861139, LOC126861140, LOC126861141, LOC126861142, LOC126861143, LOC126861144, LOC126861145, LOC126861146, LOC126861147, LOC126861148, LOC126861149, LOC126861150, LOC126861151, LOC126861152, LOC126861153, LOC126861154, LOC128772342, LOC128772343, LOC128772344, LOC128772345, LOC128772346, LOC143666, LOC283299, LOC644656, LRRC56, LSP1, LYVE1, MICAL2, MICALCL, MIR210, MIR210HG, MIR302E, MIR3159, MIR4298, MIR4299, MIR4485, MIR4686, MIR4687, MIR483, MIR5691, MIR6073, MIR6124, MIR6744, MIR675, MIR7847, MIR8070, MISFA, 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, OR52P1, 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, PRADX, 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, SSU72L1, SSU72L2, SSU72L3, SSU72L4, SSU72L5, STIM1, STIM1-AS1, STK33, SWAP70, SYT8, SYT9, SYT9-AS1, 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 | | See cases | Pathogenic (Apr 30, 2010) | no assertion criteria provided |
| - GRCh38:
- Chr11:499700-5279697
| C11orf40, CEND1, FAM99A, LINC01219, LOC105274310, LOC105376526, LOC106099062, LOC110011217, LOC110013311, LOC121832782, LOC121832783, LOC124418411, LOC124418412, LOC124418420, LOC124418421, LOC126861109, LOC126861118, MIR4686, MIR4687, MIR483, MRGPRG, OR51C1P, OR51D1, OR51T1, OR51V1, OR52I1, OR52I2, PNPLA2, POLR2L, SCT, TH, TRIM68, TRPM5, TSPAN32, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TRIM21, TSPAN4, TSSC4, ZNF195, SSU72L1, SSU72L2, SSU72L3, RNH1, RPLP2, RRM1, SSU72L4, SSU72L5, STIM1, STIM1-AS1, SYT8, TALDO1, TMEM80, OR52J3, OR52K1, OR52B4, OR52E1, OR52E2, OR52K2, OR52M1, OR52R1, PIDD1, PRADX, PRR33, OR51E1, MUC5AC, MUC5B, MUC5B-AS1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51L1, OR51S1, RASSF7, RHOG, OR52A1, MIR6744, MIR675, LSP1, MIR210, MIR210HG, MIR4298, MIR7847, MMP26, MOB2, MRGPRE, OR52A5, MRGPRG-AS1, MRPL23, LOC126861110, LOC126861111, LOC126861114, LOC126861115, MRPL23-AS1, MUC2, LOC124418415, LOC124418416, LOC124418418, LOC124418419, LOC124418413, LOC124418414, LOC126861112, LOC126861113, LOC126861116, LOC126861117, LOC143666, LOC106099063, LOC106099064, LOC106099065, LOC106783508, LOC106799843, LOC106865369, LOC107133510, LOC109623489, LOC109951029, LOC110006319, LOC110008579, LRRC56, LOC110121378, LOC111718490, LOC112067719, LOC112067720, LOC112081391, LOC113939920, FAM99B, GATD1, LOC116216127, LOC116216128, KCNQ1DN, LINC02688, LINC02708, LMNTD2-AS1, LMNTD2, LOC101927708, CARS1, LOC121392887, LOC121392888, CHID1, CHRNA10, DRD4, DUSP8, ART1, CARS1-AS1, CRACR2B, CTSD, EPS8L2, GATD1-DT, LINC02749, BRSK2, C11orf21, ART5, CD151, DEAF1, CD81, CD81-AS1, CDHR5, CDKN1C, HBE1, HBG1, ASCL2, BGLT3, HBG2, HOTS, AP2A2, A-GAMMA3'E, H19, H19-ICR, HBB, HBB-3'HS1, HBB-LCR, HBD, HRAS, HS-E1, IFITM10, IGF2, IGF2-AS, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1-AS1, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-AS1, LINC01150, MUC6, NAP1L4, NUP98, OR51A2, OR51A4, OR51A7, OSBPL5, PANO1, PGAP2, PHLDA2, PHRF1, SLC22A18, SLC22A18AS, SLC25A22, SNORA52, SNORA54, SNORD131 | | Thalassemia, gamma-delta-beta | Pathogenic (Oct 1, 1989) | no assertion criteria provided |
| - GRCh37:
- Chr11:758848-2019255
- GRCh38:
- Chr11:758848-1998025
| AP2A2, BRSK2, CD151, CEND1, CHID1, CRACR2B, CTSD, DUSP8, FAM99A, FAM99B, GATD1, GATD1-DT, H19, HOTS, IFITM10, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-AS1, LINC01150, LINC01219, LINC02688, LINC02708, LOC105274310, LOC110121378, LOC111718490, LOC121392887, LOC121392888, LOC124418412, LOC124418413, LOC126861110, LOC126861111, LOC126861112, LOC126861113, LOC126861114, LSP1, MIR4298, MIR6744, MIR675, MIR7847, MOB2, MRPL23, MRPL23-AS1, MUC2, MUC5AC, MUC5B, MUC5B-AS1, MUC6, PANO1, PIDD1, PNPLA2, POLR2L, PRADX, PRR33, RPLP2, SLC25A22, SNORA52, SNORD131, SYT8, TALDO1, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TSPAN4 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1126807-3235153
- GRCh38:
- Chr11:1132899-3213923
| ASCL2, BRSK2, C11orf21, CARS1, CARS1-AS1, CD81, CD81-AS1, CDKN1C, CTSD, DUSP8, FAM99A, FAM99B, H19, H19-ICR, HOTS, IFITM10, IGF2, IGF2-AS, INS, INS-IGF2, KCNQ1, KCNQ1-AS1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-AS1, LINC01150, LINC01219, LINC02708, LOC105274310, LOC106783508, LOC106799843, LOC109623489, LOC110121378, LOC111718490, LOC112067719, LOC113939920, LOC116216127, LOC124418413, LOC124418414, LOC124418415, LOC124418416, LOC124418418, LOC126861112, LOC126861113, LOC126861114, LOC126861115, LSP1, MIR4298, MIR4686, MIR483, MIR6744, MIR675, MIR7847, MOB2, MRPL23, MRPL23-AS1, MUC5AC, MUC5B, MUC5B-AS1, NAP1L4, OSBPL5, PHLDA2, PRADX, PRR33, SLC22A18, SLC22A18AS, SNORA54, SNORD131, SYT8, TH, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TRPM5, TSPAN32, TSSC4 | | See cases | Pathogenic (Aug 19, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr11:1558609-3381999
- GRCh38:
- Chr11:1537379-3360769
| KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-AS1, LINC01150, LINC01219, LINC02708, LOC105274310, LOC106783508, LOC106799843, LOC109623489, LOC110121378, LOC111718490, LOC112067719, LOC113939920, LOC116216127, LOC124418413, LOC124418414, LOC124418415, LOC124418416, LOC124418418, LOC126861113, LOC126861114, LOC126861115, LSP1, MIR4298, MIR4686, MIR483, MIR675, MIR7847, MRGPRE, MRGPRG, MRGPRG-AS1, MRPL23, MRPL23-AS1, NAP1L4, OSBPL5, PHLDA2, PRADX, PRR33, SLC22A18, SLC22A18AS, SNORA54, SNORD131, SYT8, TH, TNNI2, TNNT3, TRPM5, TSPAN32, TSSC4, ZNF195, ASCL2, C11orf21, CARS1, CARS1-AS1, CD81, CD81-AS1, CDKN1C, CTSD, DUSP8, FAM99A, FAM99B, H19, H19-ICR, HOTS, IFITM10, IGF2, IGF2-AS, INS, INS-IGF2, KCNQ1, KCNQ1-AS1, KCNQ1DN | | See cases | Pathogenic (Oct 14, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr11:1944915-2024549
- GRCh38:
- Chr11:1923685-2003319
| H19, H19-ICR, HOTS, LINC01219, LOC105274310, LOC110121378, MIR675, MRPL23, MRPL23-AS1, SNORD131, TNNT3 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1996741-3645369
- GRCh38:
- Chr11:1975511-3624139
| ASCL2, C11orf21, CARS1, CARS1-AS1, CD81, CD81-AS1, CDKN1C, H19, H19-ICR, HOTS, IGF2, IGF2-AS, INS, INS-IGF2, KCNQ1, KCNQ1-AS1, KCNQ1DN, KCNQ1OT1, LINC01219, LOC101927708, LOC105274310, LOC105376526, LOC106783508, LOC106799843, LOC109623489, LOC112067719, LOC112067720, LOC113939920, LOC116216127, LOC124418414, LOC124418415, LOC124418416, LOC124418418, LOC124418419, LOC126861115, MIR4686, MIR483, MIR675, MRGPRE, MRGPRG, MRGPRG-AS1, MRPL23, MRPL23-AS1, NAP1L4, OSBPL5, PHLDA2, SLC22A18, SLC22A18AS, SNORA54, TH, TRPM5, TSPAN32, TSSC4, ZNF195 | | See cases | Uncertain significance (Feb 16, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr11:1996741-2159676
- GRCh38:
- Chr11:1975511-2138446
| H19, H19-ICR, HOTS, IGF2, INS-IGF2, LINC01219, LOC105274310, MIR483, MIR675, MRPL23, MRPL23-AS1 | | See cases | Benign (Oct 19, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr11:1996741-2909925
- GRCh38:
- Chr11:1975511-2888695
| CDKN1C, H19, LINC01219, LOC105274310, LOC106783508, LOC106799843, LOC109623489, LOC113939920, LOC116216127, LOC124418414, LOC124418415, LOC124418416, MIR4686, MIR483, MIR675, MRPL23, MRPL23-AS1, SLC22A18AS, TH, TRPM5, TSPAN32, TSSC4, ASCL2, C11orf21, CD81, CD81-AS1, H19-ICR, HOTS, IGF2, IGF2-AS, INS, INS-IGF2, KCNQ1, KCNQ1-AS1, KCNQ1DN, KCNQ1OT1 | | See cases | Pathogenic (Jun 10, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr11:2016675-2016841
- GRCh38:
- Chr11:1995445-1995611
| H19, HOTS, MRPL23 | | See cases | Benign (Sep 16, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr11:2016706
- GRCh38:
- Chr11:1995476
| H19, HOTS, MRPL23 | L94I | not provided | Uncertain significance (Mar 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2019681-2020547
- GRCh38:
- Chr11:1998451-1999317
| H19, H19-ICR, MRPL23 | | See cases | Benign (Feb 4, 2013) | no assertion criteria provided |
| - GRCh38:
- Chr11:1999616-2004919
| H19, H19-ICR, MRPL23 | | Wilms tumor 2, Beckwith-Wiedemann syndrome | Pathogenic (Nov 1, 2008) | no assertion criteria provided |
| - GRCh37:
- Chr11:2021338
- GRCh38:
- Chr11:2000108
| H19, H19-ICR, MRPL23 | | Beckwith-Wiedemann syndrome | not provided | no assertion provided |
| - GRCh37:
- Chr11:2021459
- GRCh38:
- Chr11:2000229
| H19, H19-ICR, MRPL23 | | not provided | not provided | no assertion provided |
| - GRCh37:
- Chr11:2021835
- GRCh38:
- Chr11:2000605
| H19, H19-ICR, MRPL23 | | Beckwith-Wiedemann syndrome | not provided | no assertion provided |
| - GRCh37:
- Chr11:2021938
- GRCh38:
- Chr11:2000708
| H19, H19-ICR, MRPL23 | | Beckwith-Wiedemann syndrome | not provided | no assertion provided |
| - GRCh37:
- Chr11:2022018-2023452
- GRCh38:
- Chr11:2000788-2002222
| H19, H19-ICR, MRPL23 | | Wilms tumor 2 | Pathogenic (Nov 1, 2008) | no assertion criteria provided |
| - GRCh37:
- Chr11:2022142
- GRCh38:
- Chr11:2000912
| H19, H19-ICR, MRPL23 | | not provided | not provided | no assertion provided |
| - GRCh37:
- Chr11:2022259
- GRCh38:
- Chr11:2001029
| H19, H19-ICR, MRPL23 | | Beckwith-Wiedemann syndrome | not provided | no assertion provided |
| - GRCh37:
- Chr11:2022313
- GRCh38:
- Chr11:2001083
| H19, H19-ICR, MRPL23 | | Beckwith-Wiedemann syndrome | not provided | no assertion provided |
| - GRCh37:
- Chr11:2022993
- GRCh38:
- Chr11:2001763
| H19, H19-ICR, MRPL23 | | Beckwith-Wiedemann syndrome | not provided | no assertion provided |
| - GRCh37:
- Chr11:1278740-2906719
| ASCL2, BRSK2, C11orf21, CD81, CDKN1C, CTSD, DUSP8, H19, IFITM10, IGF2, IGF2-AS, INS, INS-IGF2, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LSP1, MOB2, MRPL23, MUC5B, SYT8, TH, TNNI2, TNNT3, TOLLIP, TRPM5, TSPAN32, TSSC4 | | Autosomal recessive DOPA responsive dystonia | Uncertain significance (Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:721044-3988932
| AP2A2, ART1, ART5, ASCL2, BRSK2, C11orf21, CARS1, CD151, CD81, CDKN1C, CEND1, CHID1, CHRNA10, CRACR2B, CTSD, DUSP8, EPS8L2, GATD1, INS-IGF2, H19, IFITM10, IGF2, IGF2-AS, INS, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LSP1, MOB2, MRGPRE, MRGPRG, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, NAP1L4, NUP98, OSBPL5, PGAP2, PHLDA2, PIDD1, PNPLA2, POLR2L, RHOG, RPLP2, SLC22A18, SLC22A18AS, SLC25A22, STIM1, SYT8, TALDO1, TH, TNNI2, TNNT3, TOLLIP, TRPM5, TSPAN32, TSPAN4, TSSC4, ZNF195 | | not provided | Uncertain significance (Nov 18, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1774733-2019125
| CTSD, TNNT3, H19, LSP1, MRPL23, SYT8, TNNI2 | | Neuronal ceroid lipofuscinosis | Uncertain significance (Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:461373-2157956
| AP2A2, BRSK2, CD151, CDHR5, CEND1, CHID1, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, GATD1, H19, HRAS, IFITM10, IGF2, INS-IGF2, IRF7, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LMNTD2-AS1, LRRC56, LSP1, MIR210, MIR210HG, MOB2, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, PHRF1, PIDD1, PNPLA2, POLR2L, PTDSS2, RASSF7, RNH1, RPLP2, SCT, SLC25A22, SYT8, TALDO1, TMEM80, TNNI2, TNNT3, TOLLIP, TSPAN4 | | not provided | Pathogenic (Apr 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:1980946-2054887
| H19 | | not provided | Pathogenic (Jul 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:230616-8250724
| APBB1, ANO9, AP2A2, ARFIP2, ART1, ART5, ASCL2, B4GALNT4, BRSK2, C11orf21, C11orf40, C11orf42, CARS1, CAVIN3, CCKBR, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CNGA4, CRACR2B, CTSD, CYB5R2, DCHS1, DEAF1, DNHD1, DRD4, DUSP8, EIF3F, EPS8L2, FHIP1B, GATD1, H19, HBB, HBD, HBE1, HBG1, HBG2, HPX, HRAS, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, IGF2-AS, ILK, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LMNTD2-AS1, LMO1, LRRC56, LSP1, MIR210, MIR210HG, MMP26, MOB2, MRGPRE, MRGPRG, MRPL17, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, NAP1L4, NLRP10, NLRP14, NLRP6, NUP98, OLFML1, OR10A2, OR10A3, OR10A4, OR10A5, OR10A6, OR2AG1, OR2AG2, OR2D2, OR2D3, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B4, OR5P2, OR5P3, OR6A2, OSBPL5, OVCH2, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PPFIBP2, PSMD13, PTDSS2, RASSF7, RBMXL2, RHOG, RIC3, RNH1, RPLP2, RRM1, RRP8, SCT, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SMPD1, STIM1, SYT8, SYT9, TAF10, TALDO1, TH, TIMM10B, TMEM80, TNNI2, TNNT3, TOLLIP, TPP1, TRIM21, TRIM22, TRIM3, TRIM34, TRIM5, TRIM6, TRIM68, TRPM5, TSPAN32, TSPAN4, TSSC4, TUB, UBQLN3, UBQLNL, ZNF195, ZNF214, ZNF215 | | not provided | Pathogenic (Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:230615-26881146
| SIGIRR, SIRT3, SLC17A6, SLC22A18, SLC22A18AS, SLC25A22, SLC5A12, SLC6A5, SMPD1, SNORA3B, SOX6, SPON1, SPTY2D1, STIM1, STK33, SVIP, SWAP70, SYT8, SYT9, TAF10, TALDO1, TEAD1, TH, TIMM10B, TMEM41B, TMEM80, TMEM86A, TMEM9B, TNNI2, TNNT3, TOLLIP, TPH1, TPP1, TRIM21, TRIM22, TRIM3, TRIM34, TRIM5, TRIM6, TRIM66, TRIM68, TRPM5, TSG101, TSPAN32, TSPAN4, TSSC4, TUB, UBQLN3, UBQLNL, UEVLD, USH1C, USP47, WEE1, ZBED5, ZDHHC13, ZNF143, ZNF195, ZNF214, ZNF215, ABCC8, ADM, AKIP1, AMPD3, ANO3, ANO5, ANO9, AP2A2, APBB1, ARFIP2, ART1, ART5, ASCL2, ASCL3, B4GALNT4, BMAL1, BRSK2, BTBD10, C11orf16, C11orf21, C11orf40, C11orf42, C11orf58, CALCA, CALCB, CARS1, CAVIN3, CCDC179, CCKBR, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CNGA4, COPB1, CRACR2B, CSNK2A3, CSRP3, CTR9, CTSD, CYB5R2, CYP2R1, DBX1, DCHS1, DEAF1, DENND2B, DENND5A, DKK3, DNHD1, DRD4, DUSP8, E2F8, EIF3F, EIF4G2, EPS8L2, FANCF, FAR1, FHIP1B, GALNT18, GAS2, GATD1, GTF2H1, H19, HBB, HBD, HBE1, HBG1, HBG2, HPS5, HPX, HRAS, HTATIP2, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, IGF2-AS, IGSF22, ILK, INS, INS-IGF2, INSC, IPO7, IRAG1, IRF7, KCNC1, KCNJ11, LDHA, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LDHAL6A, LDHC, LMNTD2, LMNTD2-AS1, LMO1, LRRC56, LSP1, LUZP2, LYVE1, MICAL2, MIR210, MIR210HG, MMP26, MOB2, MRGPRE, MRGPRG, MRGPRX1, MRGPRX2, MRGPRX3, MRGPRX4, MRPL17, MRPL23, MTRNR2L8, MUC15, MUC2, MUC5AC, MUC5B, MUC6, MYOD1, NAP1L4, NAV2, NCR3LG1, NELL1, NLRP10, NLRP14, NLRP6, NRIP3, NUCB2, NUP98, OLFML1, OR10A2, OR10A3, OR10A4, OR10A5, OR10A6, OR2AG1, OR2AG2, OR2D2, OR2D3, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B4, OR5P2, OR5P3, OR6A2, OSBPL5, OTOG, OVCH2, PARVA, PDE3B, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PIK3C2A, PKP3, PLEKHA7, PNPLA2, POLR2L, PPFIBP2, PRMT3, PSMA1, PSMD13, PTDSS2, PTH, PTPN5, RASSF10, RASSF7, RBMXL2, RHOG, RIC3, RNF141, RNH1, RPL27A, RPLP2, RPS13, RRAS2, RRM1, RRP8, SAA1, SAA2, SAA2-SAA4, SAA4, SAAL1, SBF2, SCT, SCUBE2, SERGEF | | See cases | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr11:1621232-2228572
| CTSD, H19, IFITM10, IGF2, IGF2-AS, INS, INS-IGF2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LSP1, MRPL23, SYT8, TH, TNNI2, TNNT3 | | Beckwith-Wiedemann syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr11:1719815-2321109
| ASCL2, C11orf21, CTSD, H19, IFITM10, IGF2, IGF2-AS, INS, INS-IGF2, LSP1, MRPL23, SYT8, TH, TNNI2, TNNT3 | | not provided | Likely pathogenic (Jul 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr11:230615-5525355
| ANO9, AP2A2, ART1, ART5, ASCL2, B4GALNT4, BRSK2, C11orf21, C11orf40, CARS1, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, GATD1, H19, HBB, HBD, HBE1, HBG1, HBG2, HRAS, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, IGF2-AS, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LMNTD2-AS1, LRRC56, LSP1, MIR210, MIR210HG, MMP26, MOB2, MRGPRE, MRGPRG, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, NAP1L4, NLRP6, NUP98, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B4, OR52D1, OR52E2, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52M1, OR52R1, OSBPL5, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PSMD13, PTDSS2, RASSF7, RHOG, RNH1, RPLP2, RRM1, SCT, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, STIM1, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TRIM21, TRIM68, TRPM5, TSPAN32, TSPAN4, TSSC4, ZNF195 | | not provided | not provided | no assertion provided |
| - GRCh37:
- Chr11:298501-4113028
| ART1, ART5, ASCL2, CD151, CD81, ANO9, AP2A2, B4GALNT4, BRSK2, C11orf21, CARS1, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, GATD1, H19, HRAS, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, IGF2-AS, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LMNTD2-AS1, LRRC56, LSP1, MIR210, MIR210HG, MOB2, MRGPRE, MRGPRG, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, NAP1L4, NUP98, OSBPL5, PGAP2, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PTDSS2, RASSF7, RHOG, RNH1, RPLP2, SCT, SIGIRR, SLC22A18, SLC22A18AS, SLC25A22, STIM1, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TRPM5, TSPAN32, TSPAN4, TSSC4, ZNF195 | | Early infantile epileptic encephalopathy with suppression bursts | Uncertain significance (Sep 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:612625-2193840
| BRSK2, AP2A2, CD151, CDHR5, CEND1, CHID1, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, GATD1, H19, IFITM10, IGF2, IGF2-AS, INS, INS-IGF2, IRF7, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LSP1, MOB2, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, PIDD1, PNPLA2, POLR2L, RPLP2, SCT, SLC25A22, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TSPAN4 | | Immunodeficiency 39, Autosomal recessive DOPA responsive dystonia | Uncertain significance (Sep 16, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:230615-4851537
| ANO9, AP2A2, ART1, ART5, ASCL2, B4GALNT4, BRSK2, C11orf21, C11orf40, CARS1, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, GATD1, H19, HRAS, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, IGF2-AS, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LMNTD2-AS1, LRRC56, LSP1, MIR210, MIR210HG, MOB2, MRGPRE, MRGPRG, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, NAP1L4, NLRP6, NUP98, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR52B4, OR52I1, OR52I2, OR52K1, OR52K2, OR52M1, OR52R1, OSBPL5, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PSMD13, PTDSS2, RASSF7, RHOG, RNH1, RPLP2, RRM1, SCT, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, STIM1, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TRIM21, TRIM68, TRPM5, TSPAN32, TSPAN4, TSSC4, ZNF195 | | See cases | Pathogenic (Sep 10, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr11:210300-8664358
| AP2A2, MUC2, OR5P2, OR5P3, PGGHG, PHLDA2, PNPLA2, POLR2L, PPFIBP2, PSMD13, PHRF1, PIDD1, PKP3, PTDSS2, RASSF7, RBMXL2, RHOG, OR6A2, OSBPL5, OVCH2, PGAP2, OR10A5, OR10A6, OR51B2, OR10A3, OR10A4, NUP98, OLFML1, OR10A2, OR2AG1, OR2AG2, MUC5AC, MUC5B, OR2D2, OR2D3, OR51A2, OR51A4, OR51A7, ART1, ART5, BRSK2, C11orf42, ASCL2, B4GALNT4, APBB1, C11orf21, C11orf40, ARFIP2, CARS1, CAVIN3, ANO9, CCKBR, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CNGA4, CRACR2B, CTSD, CYB5R2, DCHS1, DEAF1, DNHD1, DRD4, DUSP8, EIF3F, EPS8L2, FHIP1B, GATD1, H19, HBB, HBD, HBE1, HBG1, HBG2, HPX, HRAS, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, IGF2-AS, ILK, INS, INS-IGF2, IRF7, LMNTD2, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2-AS1, LMO1, LRRC56, LSP1, MIR210, MIR210HG, MMP26, MOB2, MRGPRE, MRGPRG, MRPL17, MRPL23, MUC6, NAP1L4, NLRP10, NLRP14, NLRP6, OR51B4, OR51B5, OR51B6, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B4, RIC3, RIC8A, RNH1, RPLP2, RRM1, RRP8, SCT, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SMPD1, STIM1, STK33, SYT8, SYT9, TAF10, TALDO1, TH, TIMM10B, TMEM80, TNNI2, TNNT3, TOLLIP, TPP1, TRIM21, TRIM22, TRIM3, TRIM34, TRIM5, TRIM6, TRIM66, TRIM68, TRPM5, TSPAN32, TSPAN4, TSSC4, TUB, UBQLN3, UBQLNL, ZNF195, ZNF214, ZNF215 | | Silver-Russell syndrome 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr11:1436158-2321134
| ASCL2, BRSK2, C11orf21, CTSD, DUSP8, H19, IFITM10, IGF2, IGF2-AS, INS, INS-IGF2, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LSP1, MOB2, MRPL23, SYT8, TH, TNNI2, TNNT3 | | not provided | Pathogenic (Aug 19, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr11:532616-2906985
| AP2A2, ASCL2, BRSK2, C11orf21, CD151, CD81, CDHR5, DRD4, CDKN1C, CEND1, CHID1, CRACR2B, CTSD, DEAF1, DUSP8, EPS8L2, GATD1, H19, HRAS, IFITM10, IGF2, IGF2-AS, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LMNTD2-AS1, LRRC56, LSP1, MIR210, MIR210HG, MOB2, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, PHRF1, PIDD1, PNPLA2, POLR2L, RASSF7, RPLP2, SCT, SLC25A22, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TRPM5, TSPAN32, TSPAN4, TSSC4 | | Neuronal ceroid lipofuscinosis | Uncertain significance (Jan 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:235934-33826995
| ABCC8, ADM, AKIP1, AMPD3, ANO3, ANO5, ANO9, AP2A2, APBB1, ARFIP2, ARL14EP, ART1, ART5, ASCL2, ASCL3, B4GALNT4, BBOX1, BDNF, BDNF-AS, BMAL1, BRSK2, BTBD10, C11orf16, C11orf21, C11orf40, C11orf42, C11orf58, C11orf91, CALCA, CALCB, CARS1, CAVIN3, CCDC179, CCDC34, CCDC73, CCKBR, CD151, CD59, CD81, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CNGA4, COPB1, CRACR2B, CSNK2A3, CSRP3, CSTF3, CTR9, CTSD, CYB5R2, CYP2R1, DBX1, DCDC1, DCHS1, DEAF1, DENND2B, DENND5A, DEPDC7, DKK3, DNAJC24, DNHD1, DRD4, DUSP8, E2F8, EIF3F, EIF3M, EIF4G2, ELP4, EPS8L2, FANCF, FAR1, FBXO3, FHIP1B, FIBIN, FSHB, GALNT18, GAS2, GATD1, GTF2H1, H19, HBB, HBD, HBE1, HBG1, HBG2, HIPK3, HPS5, HPX, HRAS, HTATIP2, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, IGF2-AS, IGSF22, ILK, IMMP1L, INS, INS-IGF2, INSC, IPO7, IRAG1, IRF7, KCNA4, KCNC1, KCNJ11, KCNQ1, KCNQ1DN, KCNQ1OT1, KIAA1549L, KIF18A, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LDHA, LDHAL6A, LDHC, LGR4, LIN7C, LINC00294, LMNTD2, LMNTD2-AS1, LMO1, LRRC56, LSP1, LUZP2, LYVE1, METTL15, MICAL2, MIR210, MIR210HG, MIR610, MMP26, MOB2, MPPED2, MRGPRE, MRGPRG, MRGPRX1, MRGPRX2, MRGPRX3, MRGPRX4, MRPL17, MRPL23, MTRNR2L8, MUC15, MUC2, MUC5AC, MUC5B, MUC6, MYOD1, NAP1L4, NAV2, NCR3LG1, NELL1, NLRP10, NLRP14, NLRP6, NRIP3, NUCB2, NUP98, OLFML1, OR10A2, OR10A3, OR10A4, OR10A5, OR10A6, OR2AG1, OR2AG2, OR2D2, OR2D3, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B4, OR5P2, OR5P3, OR6A2, OSBPL5, OTOG, OVCH2, PARVA, PAX6, PDE3B, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PIK3C2A, PKP3, PLEKHA7, PNPLA2, POLR2L, PPFIBP2, PRMT3, PRRG4, PSMA1, PSMD13, PTDSS2, PTH, PTPN5, QSER1, RASSF10, RASSF7, RBMXL2, RCN1, RHOG, RIC3, RNF141, RNH1, RPL27A, RPLP2, RPS13, RRAS2, RRM1, RRP8, SAA1, SAA2, SAA2-SAA4, SAA4, SAAL1, SBF2, SCT, SCUBE2, SERGEF, SIGIRR, SIRT3, SLC17A6, SLC22A18, SLC22A18AS, SLC25A22, SLC5A12, SLC6A5, SMPD1, SNORA3B, SOX6, SPON1, SPTY2D1, STIM1, STK33, SVIP, SWAP70, SYT8, SYT9, TAF10, TALDO1, TCP11L1, TEAD1, TH, TIMM10B, TMEM41B, TMEM80, TMEM86A, TMEM9B, TNNI2, TNNT3, TOLLIP, TPH1, TPP1, TRIM21, TRIM22, TRIM3, TRIM34, TRIM5, TRIM6, TRIM66, TRIM68, TRPM5, TSG101, TSPAN32, TSPAN4, TSSC4, TUB, UBQLN3, UBQLNL, UEVLD, USH1C, USP47, WEE1, WT1, WT1-AS, ZBED5, ZDHHC13, ZNF143, ZNF195, ZNF214, ZNF215 | | not provided | Pathogenic (Oct 24, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr11:193146-12643136
| CTR9, MRPL17, MRPL23, OR52I1, OR52I2, STIM1, TH, TIMM10B, TMEM9B, TNNI2, TNNT3, TMEM41B, TMEM80, TOLLIP, TPP1, SYT8, SYT9, OR56A1, OR56A3, OR56A4, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, STK33, SWAP70, MTRNR2L8, MUC2, NRIP3, NUP98, OLFML1, OR10A4, OR10A5, OR10A2, OR10A3, OR10A6, OR2AG1, MUC5AC, MUC5B, TAF10, TALDO1, CTSD, CYB5R2, GATD1, H19, HBB, HBD, HBE1, HBG1, HPX, HRAS, IFITM1, IFITM10, IFITM2, HBG2, OR52J3, OR52K1, APBB1, ARFIP2, ADM, AKIP1, AMPD3, ANO9, AP2A2, ART1, ART5, ASCL2, ASCL3, B4GALNT4, BET1L, BRSK2, C11orf16, C11orf21, CARS1, CAVIN3, C11orf40, C11orf42, DRD4, CCKBR, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CIMAP1A, CNGA4, CRACR2B, CSNK2A3, DCHS1, DEAF1, DENND2B, DENND5A, DKK3, DNHD1, DUSP8, EIF3F, EIF4G2, EPS8L2, FHIP1B, GALNT18, IFITM3, IFITM5, IGF2, IGF2-AS, ILK, INS, INS-IGF2, IPO7, IRAG1, IRF7, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LMNTD2-AS1, LMO1, LRRC56, LSP1, LYVE1, MICAL2, MIR210, MIR210HG, MMP26, MOB2, MRGPRE, MRGPRG, MUC6, NAP1L4, NLRP10, NLRP14, NLRP6, OR2AG2, OR2D2, OR2D3, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR56A5, OR56B1, OR56B4, OR5P2, OR5P3, OR6A2, OSBPL5, OVCH2, PARVA, PGAP2, PGGHG, PPFIBP2, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PSMD13, PTDSS2, RASSF7, RBMXL2, RHOG, RIC3, RIC8A, RNF141, RNH1, RPL27A, RPLP2, RRM1, RRP8, SBF2, SCGB1C1, SCT, SCUBE2, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SMPD1, SNORA3B, TRIM21, TRIM22, TRIM3, TRIM34, TRIM5, TRIM6, TRIM66, TRIM68, TRPM5, TSPAN32, TSPAN4, TSSC4, TUB, UBQLN3, UBQLNL, USP47, WEE1, ZBED5, ZNF143, ZNF195, ZNF214, ZNF215 | | Silver-Russell syndrome 1 | Pathogenic (Nov 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:70864-134938470
| C1QTNF4, C1QTNF5, C2CD2L, C2CD3, CABP2, CABP4, CADM1, CALCA, CALCB, CAPN1, CAPN5, CAPRIN1, CARD16, CARD17, CARD18, CARNS1, CARS1, CASP1, CASP12, CASP4, CASP5, CAT, CATSPER1, CATSPERZ, CAVIN3, CBL, CBLIF, CCDC15, CCDC153, CCDC179, CCDC34, CCDC73, CCDC81, CCDC82, CCDC83, CCDC85B, CCDC86, CCDC87, CCDC88B, CCDC89, CCDC90B, CCKBR, CCND1, CCS, CD151, CD248, CD3D, CD3E, CD3G, CD44, CD5, CD59, CD6, CD81, CD82, CDC42BPG, CDC42EP2, CDCA5, CDHR5, CDK2AP2, CDKN1C, CDON, CELF1, CENATAC, CEND1, CEP126, CEP164, CEP295, CEP57, CFAP300, CFAP68, CFL1, CHEK1, CHID1, CHKA, CHORDC1, CHRDL2, CHRM1, CHRM4, CHRNA10, CHST1, CKAP5, CLCF1, CLDN25, CLMP, CLNS1A, CLP1, CLPB, CNGA4, CNIH2, CNTF, CNTN5, COA4, COMMD9, COPB1, CORO1B, COX8A, CPSF7, CPT1A, CRACR2B, CREB3L1, CREBZF, CRTAM, CRY2, CRYAB, CSKMT, CSNK2A3, CSRP3, CST6, CSTF3, CSTPP1, CTNND1, CTR9, CTSC, CTSD, CTSF, CTSW, CTTN, CUL5, CWC15, CWF19L2, CXCR5, CYB561A3, CYB5R2, CYP2R1, DAGLA, DBX1, DCDC1, DCHS1, DCPS, DCUN1D5, DDB1, DDB2, DDI1, DDIAS, DDX10, DDX25, DDX6, DEAF1, DEFB108B, DENND2B, DENND5A, DEPDC7, DEUP1, DGAT2, DGKZ, DHCR7, DIXDC1, DKK3, DLAT, DLG2, DNAJB13, DNAJC24, DNAJC4, DNHD1, DPAGT1, DPF2, DPP3, DRAP1, DRD2, DRD4, DSCAML1, DTX4, DUSP8, DYNC2H1, E2F8, EED, EEF1G, EFEMP2, EHBP1L1, EHD1, EHF, EI24, EIF1AD, EIF3F, EIF3M, EIF4G2, ELF5, ELMOD1, ELP4, EML3, EMSY, ENDOD1, EPS8L2, ESAM, ESRRA, ETS1, EXPH5, EXT2, F2, FADD, FADS1, FADS2, FADS3, FAM111A, FAM111B, FAM118B, FAM168A, FAM180B, FAM181B, FAM76B, FAM86C1P, FAM89B, FANCF, FAR1, FAT3, FAU, FBXO3, FCHSD2, FDX1, FDXACB1, FEN1, FERMT3, FEZ1, FGF19, FGF3, FGF4, FHIP1B, FIBIN, FIBP, FJX1, FKBP2, FLI1, FLRT1, FNBP4, FOLH1, FOLH1B, FOLR1, FOLR2, FOLR3, FOSL1, FOXR1, FOXRED1, FREY1, FRMD8, FSHB, FTH1, FUT4, FXYD2, FXYD6, FXYD6-FXYD2, FZD4, GAB2, GAL, GAL3ST3, GALNT18, GANAB, GAS2, GATD1, GDPD4, GDPD5, GLB1L2, GLB1L3, GLYAT, GLYATL1, GLYATL2, GNG3, GPHA2, GPR137, GPR152, GPR83, GRAMD1B, GRIA4, GRIK4, GRK2, GRM5, GSTP1, GTF2H1, GUCY1A2, H19, H2AX, HARBI1, HBB, HBD, HBE1, HBG1, HBG2, HEPACAM, HEPHL1, HEPN1, HIKESHI, HINFP, HIPK3, HMBS, HNRNPUL2, HOATZ, HPS5, HPX, HRAS, HSD17B12, HSPA8, HSPB2, HTATIP2, HTR3A, HTR3B, HYLS1, HYOU1, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IFT46, IFTAP, IGF2, IGF2-AS, IGHMBP2, IGSF22, IGSF9B, IL10RA, IL18, IL18BP, ILK, IMMP1L, INCENP, INPPL1, INS, INS-IGF2, INSC, INTS4, INTS5, IPO7, IRAG1, IRF7, IZUMO1R, JAM3, JAML, JHY, JRKL, KAT5, KBTBD3, KBTBD4, KCNA4, KCNC1, KCNE3, KCNJ1, KCNJ11, KCNJ5, KCNJ5-AS1, KCNK4, KCNK7, KDM2A, KCNQ1, KCNQ1DN, KCNQ1OT1, KCTD14, KCTD21, KDM4D, KDM4E, KIAA1549L, KIF18A, KIRREL3, KLC2, KLHL35, KMT2A, KMT5B, KRTAP5-1, KRTAP5-10, KRTAP5-11, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LARGE2, LAYN, LBHD1, LDHA, LDHAL6A, LDHC, LDLRAD3, LGALS12, LGR4, LIN7C, LINC00294, LINC02714, LINC02743, LINC02873, LIPT2, LMNTD2, LMNTD2-AS1, LMO1, LMO2, LOC100128088, LOC100132686, LOC101929473, LPXN, LRFN4, LRP4, LRP5, LRRC10B, LRRC32, LRRC4C, LRRC55, LRRC56, LRRN4CL, LRTOMT, LSP1, LTBP3, LTO1, LUZP2, LYVE1, MACROD1, MADD, MADD-AS1, MAJIN, MALAT1, MAML2, MAP3K11, MAP4K2, MAP6, MAPK8IP1, MARK2, MCAM, MDK, ME3, MED17, MED19, MEN1, METTL15, MFRP, MICAL2, MIR100, MIR125B1, MIR130A, MIR139, MIR192, MIR194-2, MIR210, MIR210HG, MIR326, MIR34B, MIR34BHG, MIR34C, MIR610, MIRLET7A2, MMP1, MMP10, MMP12, MMP13, MMP20, MMP26, MMP27, MMP3, MMP7, MMP8, MOB2, MOGAT2, MPEG1, MPPED2, MPZL2, MPZL3, MRE11, MRGPRD, MRGPRE, MRGPRF, MRGPRG, MRGPRX1, MRGPRX2, MRGPRX3, MRGPRX4, MRPL11, MRPL16, MRPL17, MRPL21, MRPL23, MRPL48, MRPL49, MS4A1, MS4A10, MS4A12, MS4A13, MS4A14, MS4A15, MS4A18, MS4A2, MS4A3, MS4A4A, MS4A4E, MS4A5, MS4A6A, MS4A6E, MS4A7, MS4A8, MSANTD2, MSANTD4, MTA2, MTCH2, MTMR2, MTNR1B, MTRNR2L8, MUC15, MUC2, MUC5AC, MUC5B, MUC6, MUS81, MYBPC3, MYEOV, MYO7A, MYOD1, MYRF, NAA40, NAALAD2, NAALADL1, NADSYN1, NAP1L4, NARS2, NAT10, NAV2, NCAM1, NCAPD3, NCR3LG1, NDUFC2, NDUFC2-KCTD14, NDUFS3, NDUFS8, NDUFV1, NDUFV1-DT, NEAT1, NECTIN1, NELL1, NEU3, NFRKB, NHERF4, NKAPD1, NLRP10, NLRP14, NLRP6, TMEM223, TMEM225, TMEM25, TMEM258, TMEM41B, TMEM45B, TMEM80, TMEM86A, TMEM9B, TMPRSS13, TMPRSS4, TMPRSS5, TMX2, TNKS1BP1, TNNI2, TNNT3, TOLLIP, TP53AIP1, TP53I11, TPBGL, TPCN2, TPH1, TPP1, TRAF6, TRAPPC4, TREH, TRIM21, TRIM22, TRIM29, TRIM3, TRIM34, TRIM44, TRIM48, TRIM49, TRIM49B, TRIM49C, TRIM49D1, TRIM49D2, TRIM5, TRIM51, TRIM6, TRIM64, TRIM64B, TRIM64C, TRIM66, TRIM68, TRIM77, TRMT112, TRPC6, TRPM5, TRPT1, TSG101, TSGA10IP, TSKU, TSPAN18, TSPAN32, TSPAN4, TSSC4, TTC12, TTC17, TTC36, TTC9C, TUB, TUT1, TYR, UBASH3B, UBE2L6, UBE4A, UBQLN3, UBQLNL, UBTFL1, UBXN1, UCP2, UCP3, UEVLD, UNC93B1, UPK2, UQCC3, USH1C, USP2, USP28, USP35, USP47, UVRAG, VEGFB, VPS11, VPS26B, VPS37C, VPS51, VSIG2, VSTM5, VWA5A, VWCE, WDR74, WEE1, WNT11, WT1, WT1-AS, XRRA1, YAP1, YIF1A, YPEL4, ZBED5, ZBTB16, ZBTB3, ZBTB44, ZC3H12C, ZDHHC13, ZDHHC24, ZDHHC5, ZFP91, ZFPL1, ZFTA, ZNF143, ZNF195, ZNF202, ZNF214, ZNF215, ZNF408, ZNF705E, ZNHIT2, ZNRD2, ZP1, ZPR1, ZW10, AAMDC, AASDHPPT, ABCC8, ABCG4, ABTB2, ACAD8, ACAT1, ACCS, ACCSL, ACER3, ACP2, ACRV1, ACTN3, ACY3, ADAMTS15, ADAMTS8, ADM, AGBL2, AHNAK, AIP, AKIP1, ALDH3B1, ALDH3B2, ALG8, ALG9, ALKBH3, ALKBH8, ALX4, AMBRA1, AMOTL1, AMPD3, ANAPC15, ANGPTL5, ANKK1, ANKRD13D, ANKRD42, ANKRD49, ANO1, ANO3, ANO5, ANO9, AP2A2, AP5B1, APBB1, API5, APIP, APLNR, APLP2, APOA1, APOA4, APOA5, APOC3, AQP11, ARAP1, ARAP1-AS2, ARCN1, ARFGAP2, ARFIP2, ARHGAP1, ARHGAP20, ARHGAP32, ARHGAP42, ARHGEF12, ARHGEF17, ARHGEF17-AS1, ARL14EP, ARL2, ARRB1, ART1, ART5, ASCL2, ASCL3, ASRGL1, ATG13, ATG16L2, ATG2A, ATL3, ATM, ATP5MG, B3GAT1, B3GAT3, B3GNT6, B4GALNT4, B4GAT1, BACE1, BACE1-AS, BAD, BANF1, BARX2, BATF2, BBOX1, BBS1, BCL9L, BCO2, BDNF, BDNF-AS, BEST1, BET1L, BIRC2, BIRC3, BLID, BMAL1, BRMS1, BRSK2, BSCL2, BSX, BTBD10, BTBD18, BTG4, BUD13, C11orf16, C11orf21, C11orf24, C11orf40, C11orf42, C11orf52, C11orf54, C11orf58, C11orf65, C11orf68, C11orf71, C11orf80, C11orf86, C11orf87, C11orf91, C11orf96, NLRX1, NNMT, NOX4, NPAS4, NPAT, NR1H3, NRGN, NRIP3, NRXN2, NTM, NUCB2, NUDT22, NUDT8, NUMA1, NUP160, NUP98, NXF1, NXPE1, NXPE2, NXPE4, OAF, ODF3, OLFML1, OMP, OOSP2, OPCML, OR10A2, OR10A3, OR10A4, OR10A5, OR10A6, OR10AG1, OR10G4, OR10G7, OR10G8, OR10G9, OR10Q1, OR10S1, OR10V1, OR10W1, OR1S1, OR1S2, OR2AG1, OR2AG2, OR2AT4, OR2D2, OR2D3, OR4A15, OR4A16, OR4A47, OR4A5, OR4B1, OR4C11, OR4C12, OR4C13, OR4C15, OR4C16, OR4C3, OR4C46, OR4C6, OR4D10, OR4D11, OR4D5, OR4D6, OR4D9, OR4P4, OR4S1, OR4S2, OR4X1, OR4X2, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B4, OR5A1, OR5A2, OR5AK2, OR5AN1, OR5AP2, OR5AR1, OR5AS1, OR5B12, OR5B17, OR5B2, OR5B21, OR5B3, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5I1, OR5J2, OR5L1, OR5L2, OR5M1, OR5M10, OR5M11, OR5M3, OR5M8, OR5M9, OR5P2, OR5P3, OR5T1, OR5T2, OR5T3, OR5W2, OR6A2, OR6M1, OR6Q1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G5, OR8H1, OR8H2, OR8H3, OR8I2, OR8J1, OR8J3, OR8K1, OR8K3, OR8K5, OR8U1, OR8U3, OR9G1, OR9G4, OR9I1, OR9Q1, OR9Q2, OSBP, OSBPL5, OTOG, OTUB1, OVCH2, OVOL1, P2RX3, P2RY2, P2RY6, P4HA3, PAAF1, PACS1, PACSIN3, PAFAH1B2, PAK1, PAMR1, PANX1, PANX3, PARVA, PATE1, PATE2, PATE3, PATE4, PATL1, PAX6, PC, PCF11, PCNX3, PCSK7, PDE2A, PDE3B, PDGFD, PDHX, PELI3, PEX16, PGA3, PGA4, PGA5, PGAP2, PGGHG, PGM2L1, PGR, PHF21A, PHLDA2, PHLDB1, PHOX2A, PHRF1, PICALM, PIDD1, PIH1D2, PIK3C2A, PITPNM1, PIWIL4, PKNOX2, PKP3, PLAAT2, PLAAT3, PLAAT4, PLAAT5, PLCB3, PLEKHA7, PLEKHB1, PLET1, PNPLA2, POGLUT3, POLA2, POLD3, POLD4, POLR2G, POLR2L, POU2AF1, POU2AF2, POU2AF3, POU2F3, PPFIA1, PPFIBP2, PPME1, PPP1CA, PPP1R14B, PPP1R32, PPP2R1B, PPP2R5B, PPP6R3, PRCP, PRDM10, PRDM11, PRDX5, PRG2, PRG3, PRMT3, PRPF19, PRR5L, PRRG4, PRSS23, PSMA1, PSMC3, PSMD13, PTDSS2, PTGDR2, PTH, PTPMT1, PTPN5, PTPRCAP, PTPRJ, PTS, PUS3, PYGM, QSER1, RAB1B, RAB30, RAB38, RAB39A, RAB3IL1, RAB6A, RAD9A, RAG1, RAG2, RAPSN, RASGRP2, RASSF10, RASSF7, RBM14, RBM14-RBM4, RBM4, RBM4B, RBM7, RBMXL2, RCE1, RCN1, RCOR2, RDX, RELA, RELT, REXO2, RHOD, RHOG, RIC3, RIC8A, RIN1, RNASEH2C, RNF121, RNF141, RNF169, RNF214, RNF26, RNH1, ROBO3, ROBO4, ROM1, RPL27A, RPLP2, RPS13, RPS25, RPS3, RPS6KA4, RPS6KB2, RPUSD4, RRAS2, RRM1, RRP8, RSF1, RTN3, RTN4RL2, SAA1, SAA2, SAA2-SAA4, SAA4, SAAL1, SAC3D1, SART1, SBF2, SC5D, SCGB1A1, SCGB1C1, SCGB1D1, SCGB1D2, SCGB1D4, SCGB2A1, SCGB2A2, SCN2B, SCN3B, SCN4B, SCT, SCUBE2, SCYL1, SERPINH1, SDHAF2, SDHD, SELENOH, SERGEF, SERPING1, SESN3, SF1, SF3B2, SHANK2, SIAE, SIDT2, SIGIRR, SIK2, SIK3, SIPA1, SIRT3, SLC15A3, SLC17A6, SLC1A2, SLC22A10, SLC22A11, SLC22A12, SLC22A18, SLC22A18AS, SLC22A24, SLC22A25, SLC22A6, SLC22A8, SLC22A9, SLC25A22, SLC25A45, SLC29A2, SLC35C1, SLC35F2, SLC36A4, SLC37A2, SLC37A4, SLC39A13, SLC3A2, SLC43A1, SLC43A3, SLC5A12, SLC6A5, SLCO2B1, SLN, SMCO4, SMPD1, SMTNL1, SNHG1, SNORA3B, SNORD15A, SNORD22, SNORD25, SNORD26, SNORD27, SNORD28, SNORD29, SNORD30, SNORD31, SNX15, SNX19, SNX32, SORL1, SOX6, SPA17, SPATA19, SPCS2, SPDYC, SPI1, SPINDOC, SPON1, SPTBN2, SPTY2D1, SRPRA, SRSF8, SSH3, SSRP1, ST14, ST3GAL4, STARD10, STIM1, STIP1, STK33, STT3A, STX3, STX5, SVIP, SWAP70, SYT12, SYT13, SYT7, SYT8, SYT9, SYTL2, SYVN1, TAF10, TAF1D, TAF6L, TAGLN, TALDO1, TBC1D10C, TBCEL, TBRG1, TBX10, TCIRG1, TCN1, TCP11L1, TEAD1, TECTA, TENM4, TESMIN, TEX12, TH, THAP12, THRSP, THY1, THYN1, TIGD3, TIMM10, TIMM10B, TIMM8B, TIRAP, TKFC, TLCD5, TM7SF2, TMEM109, TMEM123, TMEM126A, TMEM126B, TMEM132A, TMEM133, TMEM134, TMEM135, TMEM138, TMEM151A, TMEM179B, TMEM216, TMEM218 | | not provided | Pathogenic (Jan 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr11:198510-134934063
| ZFPL1, ZFTA, ZNF143, ZW10, ZNF214, ZNF215, ZNF195, ZNF202, ZNF408, ZNF705E, ZNHIT2, ZNRD2, ZP1, ZPR1, UBE4A, UBQLN3, UBQLNL, UBTFL1, UBXN1, UCP2, UCP3, UEVLD, UNC93B1, UPK2, UQCC3, USH1C, USP2, USP28, USP35, USP47, UVRAG, VEGFB, VPS11, VPS26B, VPS37C, VPS51, VSIG2, VSTM5, VWA5A, VWCE, WDR74, WEE1, WNT11, WT1, WT1-AS, XRRA1, YAP1, YIF1A, YPEL4, ZBED5, ZBTB16, ZBTB3, ZBTB44, ZC3H12C, ZDHHC13, ZDHHC24, ZDHHC5, ZFP91, AAMDC, AASDHPPT, ABCC8, ABCG4, ABTB2, ACAD8, ACAT1, ACCS, ACCSL, ACER3, ACP2, ACRV1, ACTN3, ACY3, ADAMTS15, ADAMTS8, ADM, AGBL2, |