3481[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1512631.	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 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
Select item 1548232.	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 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
Select item 572743.	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 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
Select item 572584.	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 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
Select item 597485.	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 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
Select item 1445156.	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 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
Select item 144457.	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del 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
Select item 1543978.	GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1 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
Select item 1476899.	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3 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
Select item 14796410.	GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1 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
Select item 14790411.	GRCh38/hg38 11p15.5(chr11:1975511-2138446)x3 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
Select item 14687612.	GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3 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
Select item 14807313.	GRCh38/hg38 11p15.5(chr11:2052381-2138446)x3 GRCh37: Chr11:2073611-2159676 GRCh38: Chr11:2052381-2138446	IGF2, INS-IGF2, MIR483		See cases	Uncertain significance (Dec 22, 2010)	no assertion criteria provided
Select item 15552014.	GRCh38/hg38 11p15.5(chr11:2106943-2565669)x3 GRCh37: Chr11:2128173-2586899 GRCh38: Chr11:2106943-2565669	ASCL2, C11orf21, CD81, CD81-AS1, IGF2, IGF2-AS, INS, INS-IGF2, KCNQ1, LOC106799843, LOC109623489, LOC124418414, LOC124418415, LOC124418416, MIR4686, MIR483, TH, TRPM5, TSPAN32, TSSC4		See cases	Uncertain significance (Sep 9, 2013)	no assertion criteria provided
Select item 15271915.	GRCh38/hg38 11p15.5(chr11:2127344-2159430)x3 GRCh37: Chr11:2148574-2180660 GRCh38: Chr11:2127344-2159430	IGF2, IGF2-AS, INS-IGF2, MIR483		See cases	Uncertain significance (Jan 25, 2013)	no assertion criteria provided
Select item 99814316.	NM_000612.6(IGF2):c.520_521insC (p.Glu174fs) GRCh37: Chr11:2154239-2154240 GRCh38: Chr11:2133009-2133010	IGF2, INS-IGF2	E174fs, E230fs	Colorectal cancer	Pathogenic	no assertion criteria provided
Select item 45153217.	NM_000612.6(IGF2):c.518dup (p.Glu174fs) GRCh37: Chr11:2154241-2154242 GRCh38: Chr11:2133011-2133012	IGF2, INS-IGF2	E230fs, E174fs	not provided	Uncertain significance (Mar 26, 2021)	criteria provided, single submitter
Select item 232446818.	NM_000612.6(IGF2):c.518C>T (p.Pro173Leu) GRCh37: Chr11:2154242 GRCh38: Chr11:2133012	IGF2, INS-IGF2	P229L, P173L	Inborn genetic diseases	Uncertain significance (Dec 16, 2022)	criteria provided, single submitter
Select item 240946919.	NM_000612.6(IGF2):c.505G>T (p.Gly169Trp) GRCh37: Chr11:2154255 GRCh38: Chr11:2133025	IGF2, INS-IGF2	G169W, G225W	Inborn genetic diseases	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 236378720.	NM_000612.6(IGF2):c.505G>C (p.Gly169Arg) GRCh37: Chr11:2154255 GRCh38: Chr11:2133025	INS-IGF2, IGF2	G225R, G169R	Inborn genetic diseases	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 160216321.	NM_000612.6(IGF2):c.504C>T (p.His168=) GRCh37: Chr11:2154256 GRCh38: Chr11:2133026	IGF2, INS-IGF2		not provided	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 235929722.	NM_000612.6(IGF2):c.503A>C (p.His168Pro) GRCh37: Chr11:2154257 GRCh38: Chr11:2133027	IGF2, INS-IGF2	H168P, H224P	Inborn genetic diseases	Uncertain significance (Jun 30, 2021)	criteria provided, single submitter
Select item 222333023.	NM_000612.6(IGF2):c.499G>T (p.Ala167Ser) GRCh37: Chr11:2154261 GRCh38: Chr11:2133031	INS-IGF2, IGF2	A167S, A223S	Inborn genetic diseases	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 208265824.	NM_000612.6(IGF2):c.495C>G (p.Asp165Glu) GRCh37: Chr11:2154265 GRCh38: Chr11:2133035	INS-IGF2, IGF2	D165E, D221E	Inborn genetic diseases, not provided	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119622625.	NM_000612.6(IGF2):c.490C>T (p.Gln164Ter) GRCh37: Chr11:2154270 GRCh38: Chr11:2133040	IGF2, INS-IGF2	Q164, Q220	not provided	Likely pathogenic (Feb 1, 2021)	criteria provided, single submitter
Select item 76979326.	NM_000612.6(IGF2):c.480T>C (p.Ala160=) GRCh37: Chr11:2154280 GRCh38: Chr11:2133050	IGF2, INS-IGF2		not provided	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 50401227.	NM_000612.6(IGF2):c.472del (p.Pro157_Leu158insTer) GRCh37: Chr11:2154288 GRCh38: Chr11:2133058	IGF2, INS-IGF2		not provided	Uncertain significance (Dec 26, 2017)	criteria provided, single submitter
Select item 71398628.	NM_000612.6(IGF2):c.467G>A (p.Arg156His) GRCh37: Chr11:2154293 GRCh38: Chr11:2133063	IGF2, INS-IGF2	R156H, R212H	not provided	Benign (Oct 20, 2022)	criteria provided, single submitter
Select item 135967729.	NM_000612.6(IGF2):c.466C>T (p.Arg156Cys) GRCh37: Chr11:2154294 GRCh38: Chr11:2133064	IGF2, INS-IGF2	R212C, R156C	not provided, Inborn genetic diseases	Uncertain significance (Jan 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72816530.	NM_000612.6(IGF2):c.444G>A (p.Ala148=) GRCh37: Chr11:2154316 GRCh38: Chr11:2133086	IGF2, INS-IGF2		not provided	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 159873531.	NM_000612.6(IGF2):c.441G>A (p.Glu147=) GRCh37: Chr11:2154319 GRCh38: Chr11:2133089	INS-IGF2, IGF2		not provided	Benign (May 12, 2022)	criteria provided, single submitter
Select item 217888232.	NM_000612.6(IGF2):c.439G>A (p.Glu147Lys) GRCh37: Chr11:2154321 GRCh38: Chr11:2133091	INS-IGF2, IGF2	E147K, E203K	not provided	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 217867333.	NM_000612.6(IGF2):c.439G>C (p.Glu147Gln) GRCh37: Chr11:2154321 GRCh38: Chr11:2133091	IGF2, INS-IGF2	E147Q, E203Q	not provided	Uncertain significance (Aug 29, 2022)	criteria provided, single submitter
Select item 159536734.	NM_000612.6(IGF2):c.438C>A (p.Leu146=) GRCh37: Chr11:2154322 GRCh38: Chr11:2133092	IGF2, INS-IGF2		not provided	Likely benign (Nov 13, 2021)	criteria provided, single submitter
Select item 206407635.	NM_000612.6(IGF2):c.421G>A (p.Val141Met) GRCh37: Chr11:2154339 GRCh38: Chr11:2133109	IGF2, INS-IGF2	V197M, V141M	not provided	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 191771136.	NM_000612.6(IGF2):c.416G>T (p.Gly139Val) GRCh37: Chr11:2154344 GRCh38: Chr11:2133114	INS-IGF2, IGF2	G195V, G139V	not provided	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 241405037.	NM_000612.6(IGF2):c.412C>G (p.Arg138Gly) GRCh37: Chr11:2154348 GRCh38: Chr11:2133118	INS-IGF2, IGF2	R138G, R194G	not provided	Uncertain significance (Dec 10, 2021)	criteria provided, single submitter
Select item 196259138.	NM_000612.6(IGF2):c.386G>T (p.Gly129Val) GRCh37: Chr11:2154374 GRCh38: Chr11:2133144	IGF2, INS-IGF2	G129V, G185V	not provided	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 72902339.	NM_000612.6(IGF2):c.381C>T (p.Arg127=) GRCh37: Chr11:2154379 GRCh38: Chr11:2133149	IGF2, INS-IGF2		not provided	Benign (Sep 13, 2022)	criteria provided, single submitter
Select item 64738740.	NM_000612.6(IGF2):c.380G>T (p.Arg127Leu) GRCh37: Chr11:2154380 GRCh38: Chr11:2133150	IGF2, INS-IGF2	R183L, R127L	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 211147941.	NM_000612.6(IGF2):c.370C>G (p.Gln124Glu) GRCh37: Chr11:2154390 GRCh38: Chr11:2133160	IGF2, INS-IGF2	Q124E, Q180E	not provided	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 250235642.	NM_000612.6(IGF2):c.357G>A (p.Trp119Ter) GRCh37: Chr11:2154403 GRCh38: Chr11:2133173	IGF2, INS-IGF2	W119, W175	Silver-Russell syndrome 3	Likely pathogenic (Apr 3, 2023)	criteria provided, single submitter
Select item 137316243.	NM_000612.6(IGF2):c.307-3C>T GRCh37: Chr11:2154456 GRCh38: Chr11:2133226	IGF2, INS-IGF2		not provided	Uncertain significance (Oct 13, 2021)	criteria provided, single submitter
Select item 197770644.	NM_000612.6(IGF2):c.306G>A (p.Pro102=) GRCh37: Chr11:2154747 GRCh38: Chr11:2133517	IGF2, INS-IGF2		not provided	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 161088045.	NM_000612.6(IGF2):c.303T>C (p.Leu101=) GRCh37: Chr11:2154750 GRCh38: Chr11:2133520	INS-IGF2, IGF2		not provided	Likely benign (May 13, 2021)	criteria provided, single submitter
Select item 189740846.	NM_000612.6(IGF2):c.285G>A (p.Ser95=) GRCh37: Chr11:2154768 GRCh38: Chr11:2133538	IGF2, INS-IGF2		not provided	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 75485347.	NM_000612.6(IGF2):c.279C>T (p.Asp93=) GRCh37: Chr11:2154774 GRCh38: Chr11:2133544	IGF2, INS-IGF2		not provided	Likely benign (Jun 26, 2018)	criteria provided, single submitter
Select item 159722848.	NM_000612.6(IGF2):c.270C>T (p.Ser90=) GRCh37: Chr11:2154783 GRCh38: Chr11:2133553	INS-IGF2, IGF2		not provided	Likely benign (Oct 6, 2022)	criteria provided, single submitter
Select item 72847449.	NM_000612.6(IGF2):c.261C>T (p.Pro87=) GRCh37: Chr11:2154792 GRCh38: Chr11:2133562	IGF2, INS-IGF2		not provided	Likely benign (Mar 5, 2018)	criteria provided, single submitter
Select item 140160950.	NM_000612.6(IGF2):c.257C>A (p.Thr86Asn) GRCh37: Chr11:2154796 GRCh38: Chr11:2133566	IGF2, INS-IGF2	T86N, T142N	not provided	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 150553251.	NM_000612.6(IGF2):c.245C>T (p.Thr82Met) GRCh37: Chr11:2154808 GRCh38: Chr11:2133578	IGF2, INS-IGF2	T82M, T138M	not provided	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 249959152.	NM_000612.6(IGF2):c.243_244del (p.Glu81fs) GRCh37: Chr11:2154809-2154810 GRCh38: Chr11:2133579-2133580	IGF2, INS-IGF2	E137fs, E81fs	Silver-Russell syndrome 3	Pathogenic (Apr 20, 2023)	criteria provided, single submitter
Select item 78359153.	NM_000612.6(IGF2):c.240G>A (p.Leu80=) GRCh37: Chr11:2154813 GRCh38: Chr11:2133583	IGF2, INS-IGF2		not provided	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 71154154.	NM_000612.6(IGF2):c.234C>G (p.Ala78=) GRCh37: Chr11:2154819 GRCh38: Chr11:2133589	IGF2, INS-IGF2		not provided	Benign (Oct 4, 2022)	criteria provided, single submitter
Select item 127578855.	NM_000612.6(IGF2):c.227del (p.Asp76fs) GRCh37: Chr11:2154826 GRCh38: Chr11:2133596	IGF2, INS-IGF2	D132fs, D76fs	not provided	Likely pathogenic (Sep 15, 2021)	criteria provided, single submitter
Select item 140956956.	NM_000612.6(IGF2):c.212G>A (p.Cys71Tyr) GRCh37: Chr11:2154841 GRCh38: Chr11:2133611	IGF2, INS-IGF2	C127Y, C71Y	not provided	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 59583957.	NM_000612.6(IGF2):c.211T>C (p.Cys71Arg) GRCh37: Chr11:2154842 GRCh38: Chr11:2133612	IGF2, INS-IGF2	C71R, C127R	not provided	Uncertain significance (Jan 24, 2018)	criteria provided, single submitter
Select item 132852258.	NM_000612.6(IGF2):c.199G>A (p.Val67Ile) GRCh37: Chr11:2154854 GRCh38: Chr11:2133624	IGF2, INS-IGF2	V123I, V67I	Silver-Russell syndrome 3	Uncertain significance (May 12, 2021)	criteria provided, single submitter
Select item 91750359.	NM_000612.6(IGF2):c.195del (p.Ile66fs) GRCh37: Chr11:2154858 GRCh38: Chr11:2133628	IGF2, INS-IGF2	I122fs, I66fs	Silver-Russell syndrome 3	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 147863660.	NM_000612.6(IGF2):c.190C>T (p.Arg64Cys) GRCh37: Chr11:2154863 GRCh38: Chr11:2133633	INS-IGF2, IGF2	R120C, R64C	not provided	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 190813861.	NM_000612.6(IGF2):c.165C>T (p.Pro55=) GRCh37: Chr11:2154888 GRCh38: Chr11:2133658	IGF2, INS-IGF2		not provided	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 250471762.	NM_000612.6(IGF2):c.163C>T (p.Pro55Ser) GRCh37: Chr11:2154890 GRCh38: Chr11:2133660	IGF2, INS-IGF2	P111S, P55S	not provided	Uncertain significance (Dec 6, 2022)	criteria provided, single submitter
Select item 210781463.	NM_000612.6(IGF2):c.158-20_158-17del GRCh37: Chr11:2154912-2154915 GRCh38: Chr11:2133682-2133685	INS-IGF2, IGF2		not provided	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 195712864.	NM_000612.6(IGF2):c.158-19T>A GRCh37: Chr11:2154914 GRCh38: Chr11:2133684	IGF2, INS-IGF2		not provided	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 191006465.	NM_000612.6(IGF2):c.157+18G>C GRCh37: Chr11:2156579 GRCh38: Chr11:2135349	IGF2, INS-IGF2		not provided	Benign (Jul 15, 2022)	criteria provided, single submitter
Select item 190066366.	NM_000612.6(IGF2):c.157+15G>C GRCh37: Chr11:2156582 GRCh38: Chr11:2135352	INS-IGF2, IGF2		not provided	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 91750267.	NM_000612.6(IGF2):c.157+3A>C GRCh37: Chr11:2156594 GRCh38: Chr11:2135364	INS-IGF2, IGF2		Silver-Russell syndrome 3	Pathogenic (Jun 12, 2020)	no assertion criteria provided
Select item 25329868.	NM_000612.6(IGF2):c.157+1_157+2insGC GRCh37: Chr11:2156595-2156596 GRCh38: Chr11:2135365-2135366	IGF2, INS-IGF2		Silver-Russell syndrome 1	Pathogenic	no assertion criteria provided
Select item 198384769.	NM_000612.6(IGF2):c.144C>T (p.Arg48=) GRCh37: Chr11:2156610 GRCh38: Chr11:2135380	IGF2, INS-IGF2		not provided	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 207127770.	NM_000612.6(IGF2):c.138G>T (p.Gly46=) GRCh37: Chr11:2156616 GRCh38: Chr11:2135386	IGF2, INS-IGF2		not provided	Likely benign (Sep 4, 2022)	criteria provided, single submitter
Select item 74620571.	NM_000612.6(IGF2):c.129C>T (p.Phe43=) GRCh37: Chr11:2156625 GRCh38: Chr11:2135395	INS-IGF2, IGF2		not provided	Likely benign (Aug 19, 2021)	criteria provided, single submitter
Select item 91750072.	NM_000612.6(IGF2):c.110_117delinsAGGTAA (p.Leu37fs) GRCh37: Chr11:2156637-2156644 GRCh38: Chr11:2135407-2135414	IGF2, INS-IGF2	L93fs, L37fs	Silver-Russell syndrome 3	Pathogenic (Jun 12, 2020)	no assertion criteria provided
Select item 244601573.	NM_000612.6(IGF2):c.106G>T (p.Glu36Ter) GRCh37: Chr11:2156648 GRCh38: Chr11:2135418	IGF2, INS-IGF2	E36, E92	See cases	Likely pathogenic (Dec 21, 2022)	criteria provided, single submitter
Select item 244212574.	NM_000612.6(IGF2):c.106del (p.Glu36fs) GRCh37: Chr11:2156648 GRCh38: Chr11:2135418	IGF2, INS-IGF2	E36fs, E92fs	Silver-Russell syndrome 3	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 91750175.	NM_000612.6(IGF2):c.101G>A (p.Gly34Asp) GRCh37: Chr11:2156653 GRCh38: Chr11:2135423	IGF2, INS-IGF2	G34D, G90D	not provided	Pathogenic (Oct 2, 2020)	criteria provided, single submitter
Select item 222875376.	NM_000612.6(IGF2):c.100G>C (p.Gly34Arg) GRCh37: Chr11:2156654 GRCh38: Chr11:2135424	INS-IGF2, IGF2	G90R, G34R	Inborn genetic diseases	Pathogenic (Dec 31, 2020)	criteria provided, single submitter
Select item 118722277.	NM_000612.6(IGF2):c.100G>A (p.Gly34Ser) GRCh37: Chr11:2156654 GRCh38: Chr11:2135424	IGF2, INS-IGF2	G34S, G90S	not specified, not provided	Conflicting interpretations of pathogenicity (Sep 9, 2022)	criteria provided, conflicting interpretations
Select item 97606178.	NM_000612.6(IGF2):c.100G>T (p.Gly34Cys) GRCh37: Chr11:2156654 GRCh38: Chr11:2135424	IGF2, INS-IGF2	G34C, G90C	Silver-Russell syndrome 3, Silver-Russell syndrome 1, Wilms tumor 1, Silver-Russell syndrome 3, Beckwith-Wiedemann syndrome	Likely pathogenic (Mar 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 195342179.	NM_000612.6(IGF2):c.99C>T (p.Cys33=) GRCh37: Chr11:2156655 GRCh38: Chr11:2135425	IGF2, INS-IGF2		not provided	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 37308080.	NM_000612.6(IGF2):c.99C>A (p.Cys33Ter) GRCh37: Chr11:2156655 GRCh38: Chr11:2135425	INS-IGF2, IGF2	C33, C89	not provided	Pathogenic (Nov 7, 2016)	criteria provided, single submitter
Select item 213442581.	NM_000612.6(IGF2):c.89_98del (p.Glu30fs) GRCh37: Chr11:2156656-2156665 GRCh38: Chr11:2135426-2135435	INS-IGF2, IGF2	E30fs, E86fs	not provided	Pathogenic (May 5, 2022)	criteria provided, single submitter
Select item 37298082.	NM_000612.6(IGF2):c.97T>C (p.Cys33Arg) GRCh37: Chr11:2156657 GRCh38: Chr11:2135427	IGF2, INS-IGF2	C33R, C89R	not provided	Likely pathogenic (Jun 23, 2016)	criteria provided, single submitter
Select item 79889983.	NM_000612.6(IGF2):c.96G>C (p.Leu32=) GRCh37: Chr11:2156658 GRCh38: Chr11:2135428	IGF2, INS-IGF2		not provided	Likely benign (Dec 14, 2018)	criteria provided, single submitter
Select item 209013584.	NM_000612.6(IGF2):c.78C>T (p.Tyr26=) GRCh37: Chr11:2156676 GRCh38: Chr11:2135446	IGF2, INS-IGF2		not provided	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 25303685.	NM_000612.6(IGF2):c.78C>G (p.Tyr26Ter) GRCh37: Chr11:2156676 GRCh38: Chr11:2135446	IGF2, INS-IGF2	Y26, Y82	not provided	Pathogenic (Sep 5, 2015)	criteria provided, single submitter
Select item 167929486.	NM_000612.6(IGF2):c.59C>A (p.Ser20Ter) GRCh37: Chr11:2156695 GRCh38: Chr11:2135465	IGF2, INS-IGF2	S20, S76	Silver-Russell syndrome 3	Likely pathogenic (Aug 1, 2021)	criteria provided, single submitter
Select item 141789487.	NM_000612.6(IGF2):c.59C>T (p.Ser20Leu) GRCh37: Chr11:2156695 GRCh38: Chr11:2135465	IGF2, INS-IGF2	S76L, S20L	not provided	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 160552188.	NM_000612.6(IGF2):c.30G>A (p.Leu10=) GRCh37: Chr11:2156724 GRCh38: Chr11:2135494	IGF2, INS-IGF2		not provided	Likely benign (Sep 18, 2021)	criteria provided, single submitter
Select item 97622689.	NM_000612.6(IGF2):c.27del (p.Met9fs) GRCh37: Chr11:2156727 GRCh38: Chr11:2135497	IGF2, INS-IGF2	M65fs, M9fs	Silver-Russell syndrome 3	Uncertain significance (Feb 22, 2017)	criteria provided, single submitter
Select item 20449190.	NM_000612.6(IGF2):c.23C>A (p.Ser8Ter) GRCh37: Chr11:2156731 GRCh38: Chr11:2135501	IGF2, INS-IGF2	S64, S8	Silver-Russell syndrome 3	Pathogenic (Jul 23, 2015)	no assertion criteria provided
Select item 236750491.	NM_000612.6(IGF2):c.21G>T (p.Lys7Asn) GRCh37: Chr11:2156733 GRCh38: Chr11:2135503	INS-IGF2, IGF2	K63N, K7N	Inborn genetic diseases	Likely benign (Dec 5, 2022)	criteria provided, single submitter
Select item 193451592.	NM_000612.6(IGF2):c.20A>C (p.Lys7Thr) GRCh37: Chr11:2156734 GRCh38: Chr11:2135504	IGF2, INS-IGF2	K63T, K7T	not provided	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 247534593.	NM_000612.6(IGF2):c.10C>G (p.Pro4Ala) GRCh37: Chr11:2156744 GRCh38: Chr11:2135514	IGF2, INS-IGF2	P4A, P60A	Inborn genetic diseases	Uncertain significance (Jan 10, 2023)	criteria provided, single submitter
Select item 105735794.	NM_000612.6(IGF2):c.2T>C (p.Met1Thr) GRCh37: Chr11:2156752 GRCh38: Chr11:2135522	INS-IGF2, IGF2	M1T, M57T	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 227795795.	NM_000612.6(IGF2):c.-2C>G GRCh37: Chr11:2156755 GRCh38: Chr11:2135525	IGF2, INS-IGF2	P56R	Inborn genetic diseases	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 170987596.	NM_000612.6(IGF2):c.-6-2A>T GRCh37: Chr11:2156761 GRCh38: Chr11:2135531	IGF2, INS-IGF2		Silver-Russell syndrome 3	Pathogenic (Aug 11, 2021)	criteria provided, single submitter
Select item 105058897.	NM_001127598.3(IGF2):c.162G>C (p.Gln54His) GRCh37: Chr11:2161365 GRCh38: Chr11:2140135	IGF2, INS-IGF2	Q54H	not provided	Uncertain significance	no assertion criteria provided
Select item 71064798.	NM_001127598.3(IGF2):c.97C>T (p.Gln33Ter) GRCh37: Chr11:2161430 GRCh38: Chr11:2140200	IGF2, INS-IGF2	Q33*	Inborn genetic diseases, not provided	Likely benign (Oct 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 71449599.	NM_001127598.3(IGF2):c.90C>T (p.Thr30=) GRCh37: Chr11:2161437 GRCh38: Chr11:2140207	IGF2, INS-IGF2		not provided	Benign (Sep 14, 2022)	criteria provided, single submitter
Select item 218508100.	NM_001127598.3(IGF2):c.82G>A (p.Gly28Arg) GRCh37: Chr11:2161445 GRCh38: Chr11:2140215	IGF2, INS-IGF2	G28R	not specified	Uncertain significance (Jul 22, 2015)	criteria provided, single submitter

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