U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 61

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
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, 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 casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
2.
GRCh37:
Chr11:196855-2137415
GRCh38:
Chr11:196855-2116185
See casesPathogenic
(Aug 13, 2012)
no assertion criteria provided
3.
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 casesPathogenic
(Aug 13, 2012)
no assertion criteria provided
4.
GRCh37:
Chr11:196966-3398307
GRCh38:
Chr11:196966-3377077
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr11:218365-3398307
GRCh38:
Chr11:218365-3377077
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
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 casesPathogenic
(Apr 30, 2010)
no assertion criteria provided
8.
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-betaPathogenic
(Oct 1, 1989)
no assertion criteria provided
9.
GRCh37:
Chr11:758848-2019255
GRCh38:
Chr11:758848-1998025
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
10.
GRCh37:
Chr11:1126807-3235153
GRCh38:
Chr11:1132899-3213923
See casesPathogenic
(Aug 19, 2010)
no assertion criteria provided
11.
GRCh37:
Chr11:1558609-3381999
GRCh38:
Chr11:1537379-3360769
See casesPathogenic
(Oct 14, 2010)
no assertion criteria provided
12.
GRCh37:
Chr11:1944915-2024549
GRCh38:
Chr11:1923685-2003319
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
13.
GRCh37:
Chr11:1996741-3645369
GRCh38:
Chr11:1975511-3624139
See casesUncertain significance
(Feb 16, 2018)
no assertion criteria provided
14.
GRCh37:
Chr11:1996741-2159676
GRCh38:
Chr11:1975511-2138446
See casesBenign
(Oct 19, 2010)
no assertion criteria provided
15.
GRCh37:
Chr11:1996741-2909925
GRCh38:
Chr11:1975511-2888695
See casesPathogenic
(Jun 10, 2010)
no assertion criteria provided
16.
GRCh37:
Chr11:2016675-2016841
GRCh38:
Chr11:1995445-1995611
H19, HOTS, MRPL23See casesBenign
(Sep 16, 2011)
no assertion criteria provided
17.
GRCh37:
Chr11:2016706
GRCh38:
Chr11:1995476
H19, HOTS, MRPL23L94Inot providedUncertain significance
(Mar 28, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr11:2019681-2020547
GRCh38:
Chr11:1998451-1999317
H19, H19-ICR, MRPL23See casesBenign
(Feb 4, 2013)
no assertion criteria provided
19.
GRCh38:
Chr11:1999616-2004919
H19, H19-ICR, MRPL23Wilms tumor 2, Beckwith-Wiedemann syndromePathogenic
(Nov 1, 2008)
no assertion criteria provided
20.
GRCh37:
Chr11:2021338
GRCh38:
Chr11:2000108
H19, H19-ICR, MRPL23Beckwith-Wiedemann syndromenot providedno assertion provided
21.
GRCh37:
Chr11:2021459
GRCh38:
Chr11:2000229
H19, H19-ICR, MRPL23not providednot providedno assertion provided
22.
GRCh37:
Chr11:2021835
GRCh38:
Chr11:2000605
H19, H19-ICR, MRPL23Beckwith-Wiedemann syndromenot providedno assertion provided
23.
GRCh37:
Chr11:2021938
GRCh38:
Chr11:2000708
H19, H19-ICR, MRPL23Beckwith-Wiedemann syndromenot providedno assertion provided
24.
GRCh37:
Chr11:2022018-2023452
GRCh38:
Chr11:2000788-2002222
H19, H19-ICR, MRPL23Wilms tumor 2Pathogenic
(Nov 1, 2008)
no assertion criteria provided
25.
GRCh37:
Chr11:2022142
GRCh38:
Chr11:2000912
H19, H19-ICR, MRPL23not providednot providedno assertion provided
26.
GRCh37:
Chr11:2022259
GRCh38:
Chr11:2001029
H19, H19-ICR, MRPL23Beckwith-Wiedemann syndromenot providedno assertion provided
27.
GRCh37:
Chr11:2022313
GRCh38:
Chr11:2001083
H19, H19-ICR, MRPL23Beckwith-Wiedemann syndromenot providedno assertion provided
28.
GRCh37:
Chr11:2022993
GRCh38:
Chr11:2001763
H19, H19-ICR, MRPL23Beckwith-Wiedemann syndromenot providedno assertion provided
29.
GRCh37:
Chr11:1278740-2906719
Autosomal recessive DOPA responsive dystoniaUncertain significance
(Jun 13, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr11:721044-3988932
not providedUncertain significance
(Nov 18, 2020)
criteria provided, single submitter
31.
GRCh37:
Chr11:1774733-2019125
CTSD, TNNT3, H19, LSP1, MRPL23, SYT8, TNNI2Neuronal ceroid lipofuscinosisUncertain significance
(Aug 10, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr11:461373-2157956
not providedPathogenic
(Apr 13, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr11:1980946-2054887
H19not providedPathogenic
(Jul 8, 2021)
criteria provided, single submitter
34.
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 providedPathogenic
(Dec 23, 2021)
criteria provided, single submitter
35.
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 casesPathogenicno assertion criteria provided
36.
GRCh37:
Chr11:1621232-2228572
Beckwith-Wiedemann syndromePathogenicno assertion criteria provided
37.
GRCh37:
Chr11:1719815-2321109
not providedLikely pathogenic
(Jul 1, 2020)
no assertion criteria provided
38.
GRCh37:
Chr11:230615-5525355
not providednot providedno assertion provided
39.
GRCh37:
Chr11:298501-4113028
Early infantile epileptic encephalopathy with suppression burstsUncertain significance
(Sep 10, 2020)
criteria provided, single submitter
40.
GRCh37:
Chr11:612625-2193840
Immunodeficiency 39, Autosomal recessive DOPA responsive dystoniaUncertain significance
(Sep 16, 2020)
criteria provided, single submitter
41.
GRCh37:
Chr11:230615-4851537
See casesPathogenic
(Sep 10, 2020)
no assertion criteria provided
42.
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 1Pathogenicno assertion criteria provided
43.
GRCh37:
Chr11:1436158-2321134
not providedPathogenic
(Aug 19, 2019)
no assertion criteria provided
44.
GRCh37:
Chr11:532616-2906985
Neuronal ceroid lipofuscinosisUncertain significance
(Jan 31, 2019)
criteria provided, single submitter
45.
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 providedPathogenic
(Oct 24, 2018)
no assertion criteria provided
46.
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 1Pathogenic
(Nov 1, 2018)
criteria provided, single submitter
47.
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 providedPathogenic
(Jan 1, 2013)
no assertion criteria provided
48.
GRCh37:
Chr11:198510-134934063