3265[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 1548562.	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3 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
Select item 1548233.	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 572744.	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 572585.	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 597486.	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 1445157.	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 144458.	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 11829549.	NM_005343.4(HRAS):c.*76G>C GRCh37: Chr11:532452 GRCh38: Chr11:532452	HRAS, LRRC56		not provided	Likely benign (Aug 15, 2019)	criteria provided, single submitter
Select item 4045010.	NM_005343.4(HRAS):c.*6-2A>C GRCh37: Chr11:532524 GRCh38: Chr11:532524	HRAS, LRRC56		not specified	Likely benign (Feb 24, 2012)	criteria provided, single submitter
Select item 129100211.	NM_005343.4(HRAS):c.*6-48G>A GRCh37: Chr11:532570 GRCh38: Chr11:532570	HRAS, LRRC56		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 97604612.	NM_005343.4(HRAS):c.112-59_*6-51del GRCh37: Chr11:532573-534003 GRCh38: Chr11:532573-534003	HRAS, LRRC56		Costello syndrome	Uncertain significance (Dec 20, 2018)	criteria provided, single submitter
Select item 126914813.	NM_005343.4(HRAS):c.*5+35C>T GRCh37: Chr11:532596 GRCh38: Chr11:532596	HRAS, LRRC56		not provided	Benign (Dec 13, 2019)	criteria provided, single submitter
Select item 124755914.	NM_005343.4(HRAS):c.*5+29C>T GRCh37: Chr11:532602 GRCh38: Chr11:532602	HRAS, LRRC56		not provided	Benign (Dec 18, 2019)	criteria provided, single submitter
Select item 125169415.	NM_005343.4(HRAS):c.*5+24C>T GRCh37: Chr11:532607 GRCh38: Chr11:532607	HRAS, LRRC56		not provided	Benign (Feb 23, 2020)	criteria provided, single submitter
Select item 37796816.	NM_005343.4(HRAS):c.*5+20C>T GRCh37: Chr11:532611 GRCh38: Chr11:532611	HRAS, LRRC56		not specified	Benign (Mar 10, 2015)	criteria provided, single submitter
Select item 56134317.	NM_005343.4(HRAS):c.*5+14C>G GRCh37: Chr11:532617 GRCh38: Chr11:532617	HRAS, LRRC56		not provided	Likely benign (May 23, 2018)	criteria provided, single submitter
Select item 13755818.	NM_005343.4(HRAS):c.*5+14C>A GRCh37: Chr11:532617 GRCh38: Chr11:532617	HRAS, LRRC56		not specified	Benign (May 18, 2012)	criteria provided, single submitter
Select item 65681719.	NC_000011.9:g.(?_532626)_(534332_?)dup GRCh37: Chr11:532626-534332 GRCh38: Chr11:532626-534332	HRAS, LRRC56		Costello syndrome	Uncertain significance (Jul 1, 2019)	criteria provided, single submitter
Select item 41751020.	NC_000011.9:g.(?_532631)_(532755_?)dup GRCh37: Chr11:532631-532755 GRCh38: Chr11:532631-532755	HRAS, LRRC56		Costello syndrome	Uncertain significance (Aug 31, 2016)	criteria provided, single submitter
Select item 17961321.	NC_000011.9:g.(?_532631)_(534375_?)dup GRCh37: Chr11:532631-534375 GRCh38: Chr11:532631-534375	HRAS, LRRC56		not specified	Uncertain significance (Jul 31, 2014)	criteria provided, single submitter
Select item 13755722.	NM_005343.4(HRAS):c.*1C>T GRCh37: Chr11:532635 GRCh38: Chr11:532635	HRAS, LRRC56		not specified, not provided	Benign/Likely benign (Jul 5, 2016)	criteria provided, multiple submitters, no conflicts
Select item 208996623.	NM_005343.4(HRAS):c.566_568del (p.Ser189del) GRCh37: Chr11:532638-532640 GRCh38: Chr11:532638-532640	HRAS, LRRC56	S110del, S189del	Costello syndrome	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 191005224.	NM_005343.4(HRAS):c.567C>T (p.Ser189=) GRCh37: Chr11:532639 GRCh38: Chr11:532639	HRAS, LRRC56		Costello syndrome	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 113132325.	NM_005343.4(HRAS):c.567C>G (p.Ser189=) GRCh37: Chr11:532639 GRCh38: Chr11:532639	HRAS, LRRC56		Costello syndrome	Likely benign (Jan 31, 2020)	criteria provided, single submitter
Select item 94075526.	NM_005343.4(HRAS):c.566C>T (p.Ser189Phe) GRCh37: Chr11:532640 GRCh38: Chr11:532640	HRAS, LRRC56	S110F, S189F	Costello syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 85624027.	NM_005343.4(HRAS):c.565T>G (p.Ser189Ala) GRCh37: Chr11:532641 GRCh38: Chr11:532641	HRAS, LRRC56	S189A, S110A	Costello syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 165675728.	NM_005343.4(HRAS):c.564C>G (p.Leu188=) GRCh37: Chr11:532642 GRCh38: Chr11:532642	HRAS, LRRC56		Costello syndrome	Likely benign (Nov 17, 2021)	criteria provided, single submitter
Select item 101161229.	NM_005343.4(HRAS):c.560T>C (p.Val187Ala) GRCh37: Chr11:532646 GRCh38: Chr11:532646	HRAS, LRRC56	V108A, V187A	Costello syndrome	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 171331830.	NM_005343.4(HRAS):c.559G>A (p.Val187Met) GRCh37: Chr11:532647 GRCh38: Chr11:532647	HRAS, LRRC56	V108M, V187M	Costello syndrome	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 160686931.	NM_005343.4(HRAS):c.555G>A (p.Lys185=) GRCh37: Chr11:532651 GRCh38: Chr11:532651	HRAS, LRRC56		Costello syndrome	Likely benign (Nov 14, 2021)	criteria provided, single submitter
Select item 53119132.	NM_005343.4(HRAS):c.552dup (p.Lys185fs) GRCh37: Chr11:532653-532654 GRCh38: Chr11:532653-532654	HRAS, LRRC56	K185fs, K106fs	Costello syndrome	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 140740433.	NM_005343.4(HRAS):c.551G>C (p.Cys184Ser) GRCh37: Chr11:532655 GRCh38: Chr11:532655	HRAS, LRRC56	C105S, C184S	Costello syndrome	Uncertain significance (Jul 26, 2021)	criteria provided, single submitter
Select item 136906934.	NM_005343.4(HRAS):c.551G>A (p.Cys184Tyr) GRCh37: Chr11:532655 GRCh38: Chr11:532655	HRAS, LRRC56	C105Y, C184Y	Costello syndrome	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 83616035.	NM_005343.4(HRAS):c.548G>A (p.Ser183Asn) GRCh37: Chr11:532658 GRCh38: Chr11:532658	HRAS, LRRC56	S104N, S183N	Costello syndrome	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 24013836.	NM_005343.4(HRAS):c.546G>A (p.Met182Ile) GRCh37: Chr11:532660 GRCh38: Chr11:532660	HRAS, LRRC56	M182I, M103I	Costello syndrome	Uncertain significance (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103854437.	NM_005343.4(HRAS):c.545T>C (p.Met182Thr) GRCh37: Chr11:532661 GRCh38: Chr11:532661	HRAS, LRRC56	M103T, M182T	Costello syndrome	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 94695738.	NM_005343.4(HRAS):c.544A>C (p.Met182Leu) GRCh37: Chr11:532662 GRCh38: Chr11:532662	HRAS, LRRC56	M103L, M182L	Costello syndrome	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 18085339.	NM_005343.4(HRAS):c.544A>G (p.Met182Val) GRCh37: Chr11:532662 GRCh38: Chr11:532662	HRAS, LRRC56	M182V, M103V	not provided, Costello syndrome	Uncertain significance (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144710740.	NM_005343.4(HRAS):c.543C>T (p.Cys181=) GRCh37: Chr11:532663 GRCh38: Chr11:532663	HRAS, LRRC56		Costello syndrome	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 104231041.	NM_005343.4(HRAS):c.542G>A (p.Cys181Tyr) GRCh37: Chr11:532664 GRCh38: Chr11:532664	HRAS, LRRC56	C102Y, C181Y	Costello syndrome	Uncertain significance (Sep 29, 2021)	criteria provided, single submitter
Select item 202796642.	NM_005343.4(HRAS):c.540C>A (p.Gly180=) GRCh37: Chr11:532666 GRCh38: Chr11:532666	HRAS, LRRC56		Costello syndrome	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 153513643.	NM_005343.4(HRAS):c.540C>T (p.Gly180=) GRCh37: Chr11:532666 GRCh38: Chr11:532666	HRAS, LRRC56		Costello syndrome	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 94844144.	NM_005343.4(HRAS):c.539G>A (p.Gly180Asp) GRCh37: Chr11:532667 GRCh38: Chr11:532667	HRAS, LRRC56	G101D, G180D	Costello syndrome	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 65427845.	NM_005343.4(HRAS):c.538G>A (p.Gly180Ser) GRCh37: Chr11:532668 GRCh38: Chr11:532668	LRRC56, HRAS	G101S, G180S	Costello syndrome, not provided	Uncertain significance (Jun 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41587846.	NM_005343.4(HRAS):c.537C>T (p.Pro179=) GRCh37: Chr11:532669 GRCh38: Chr11:532669	HRAS, LRRC56		not provided, Costello syndrome	Likely benign (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105227247.	NM_005343.4(HRAS):c.536C>T (p.Pro179Leu) GRCh37: Chr11:532670 GRCh38: Chr11:532670	HRAS, LRRC56	P100L, P179L	Costello syndrome, not provided	Uncertain significance (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142254948.	NM_005343.4(HRAS):c.535C>T (p.Pro179Ser) GRCh37: Chr11:532671 GRCh38: Chr11:532671	HRAS, LRRC56	P179S, P100S	Cardiovascular phenotype, not provided, Costello syndrome	Uncertain significance (Sep 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72475949.	NM_005343.4(HRAS):c.535C>G (p.Pro179Ala) GRCh37: Chr11:532671 GRCh38: Chr11:532671	HRAS, LRRC56	P100A, P179A	Costello syndrome	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 198456650.	NM_005343.4(HRAS):c.534C>T (p.Gly178=) GRCh37: Chr11:532672 GRCh38: Chr11:532672	HRAS, LRRC56		Costello syndrome	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 41588351.	NM_005343.4(HRAS):c.534C>G (p.Gly178=) GRCh37: Chr11:532672 GRCh38: Chr11:532672	HRAS, LRRC56		not provided, Cardiovascular phenotype, Costello syndrome, not specified	Likely benign (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66055452.	NM_005343.4(HRAS):c.532G>C (p.Gly178Arg) GRCh37: Chr11:532674 GRCh38: Chr11:532674	HRAS, LRRC56	G178R, G99R	Costello syndrome	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 201453353.	NM_005343.4(HRAS):c.529_531del (p.Ser177del) GRCh37: Chr11:532675-532677 GRCh38: Chr11:532675-532677	HRAS, LRRC56	S98del, S177del	Costello syndrome	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 189687554.	NM_005343.4(HRAS):c.531T>C (p.Ser177=) GRCh37: Chr11:532675 GRCh38: Chr11:532675	HRAS, LRRC56		Costello syndrome	Likely benign (Aug 14, 2022)	criteria provided, single submitter
Select item 216026955.	NM_005343.4(HRAS):c.529_530del (p.Ser177fs) GRCh37: Chr11:532676-532677 GRCh38: Chr11:532676-532677	HRAS, LRRC56	S98fs, S177fs	Costello syndrome	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 172099356.	NM_005343.4(HRAS):c.530G>C (p.Ser177Thr) GRCh37: Chr11:532676 GRCh38: Chr11:532676	HRAS, LRRC56	S177T, S98T	Costello syndrome	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 137688857.	NM_005343.4(HRAS):c.530G>A (p.Ser177Asn) GRCh37: Chr11:532676 GRCh38: Chr11:532676	HRAS, LRRC56	S98N, S177N	Costello syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 133424158.	NM_005343.4(HRAS):c.521C>A (p.Pro174His) GRCh37: Chr11:532685 GRCh38: Chr11:532685	HRAS, LRRC56	P174H, P95H	Noonan syndrome and Noonan-related syndrome	Uncertain significance (Dec 12, 2016)	criteria provided, single submitter
Select item 64333859.	NM_005343.4(HRAS):c.520C>G (p.Pro174Ala) GRCh37: Chr11:532686 GRCh38: Chr11:532686	HRAS, LRRC56	P174A, P95A	Costello syndrome	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 4044860.	NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) GRCh37: Chr11:532686 GRCh38: Chr11:532686	HRAS, LRRC56	P174S, P95S	RASopathy	Benign (Apr 18, 2017)	reviewed by expert panel FDA Recognized Database
Select item 41588161.	NM_005343.4(HRAS):c.519T>G (p.Pro173=) GRCh37: Chr11:532687 GRCh38: Chr11:532687	HRAS, LRRC56		Costello syndrome	Likely benign (Nov 27, 2019)	criteria provided, single submitter
Select item 200575162.	NM_005343.4(HRAS):c.518C>G (p.Pro173Arg) GRCh37: Chr11:532688 GRCh38: Chr11:532688	HRAS, LRRC56	P173R, P94R	Costello syndrome	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 46215663.	NM_005343.4(HRAS):c.518C>T (p.Pro173Leu) GRCh37: Chr11:532688 GRCh38: Chr11:532688	HRAS, LRRC56	P173L, P94L	Intellectual disability, Costello syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102481864.	NM_005343.4(HRAS):c.517C>T (p.Pro173Ser) GRCh37: Chr11:532689 GRCh38: Chr11:532689	HRAS, LRRC56	P173S, P94S	not provided, Costello syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41588565.	NM_005343.4(HRAS):c.516C>T (p.Asn172=) GRCh37: Chr11:532690 GRCh38: Chr11:532690	HRAS, LRRC56		not specified, Costello syndrome	Likely benign (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105538766.	NM_005343.4(HRAS):c.515A>G (p.Asn172Ser) GRCh37: Chr11:532691 GRCh38: Chr11:532691	HRAS, LRRC56	N172S, N93S	Costello syndrome	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 137234867.	NM_005343.4(HRAS):c.482_511del (p.Arg161_Lys170del) GRCh37: Chr11:532695-532724 GRCh38: Chr11:532695-532724	HRAS, LRRC56		Costello syndrome	Uncertain significance (Aug 4, 2021)	criteria provided, single submitter
Select item 4530568.	NM_005343.4(HRAS):c.510G>A (p.Lys170=) GRCh37: Chr11:532696 GRCh38: Chr11:532696	HRAS, LRRC56		RASopathy	Likely benign (Apr 3, 2017)	reviewed by expert panel FDA Recognized Database
Select item 4044769.	NM_005343.4(HRAS):c.508A>T (p.Lys170Ter) GRCh37: Chr11:532698 GRCh38: Chr11:532698	HRAS, LRRC56	K170, K91	Costello syndrome	Uncertain significance (Jun 27, 2019)	reviewed by expert panel FDA Recognized Database
Select item 103569970.	NM_005343.4(HRAS):c.506G>T (p.Arg169Leu) GRCh37: Chr11:532700 GRCh38: Chr11:532700	HRAS, LRRC56	R169L, R90L	Costello syndrome	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 18085671.	NM_005343.4(HRAS):c.506G>A (p.Arg169Gln) GRCh37: Chr11:532700 GRCh38: Chr11:532700	HRAS, LRRC56	R169Q, R90Q	Costello syndrome, Large congenital melanocytic nevus, Linear nevus sebaceous syndrome, Malignant tumor of urinary bladder, Costello syndrome, Epidermal nevus, Thyroid cancer, nonmedullary, 2, Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17791872.	NM_005343.4(HRAS):c.505C>T (p.Arg169Trp) GRCh37: Chr11:532701 GRCh38: Chr11:532701	HRAS, LRRC56	R169W, R90W	Cardiovascular phenotype, Costello syndrome, Large congenital melanocytic nevus, Linear nevus sebaceous syndrome, Malignant tumor of urinary bladder, Costello syndrome, Epidermal nevus, Thyroid cancer, nonmedullary, 2, not specified	Uncertain significance (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93513173.	NM_005343.4(HRAS):c.503T>C (p.Leu168Pro) GRCh37: Chr11:532703 GRCh38: Chr11:532703	HRAS, LRRC56	L168P, L89P	Noonan syndrome and Noonan-related syndrome, Costello syndrome	Uncertain significance (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 24013674.	NM_005343.4(HRAS):c.498C>A (p.His166Gln) GRCh37: Chr11:532708 GRCh38: Chr11:532708	HRAS, LRRC56	H166Q, H87Q	Costello syndrome	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 101918975.	NM_005343.4(HRAS):c.497A>G (p.His166Arg) GRCh37: Chr11:532709 GRCh38: Chr11:532709	HRAS, LRRC56	H166R, H87R	Costello syndrome	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 140836276.	NM_005343.4(HRAS):c.496C>T (p.His166Tyr) GRCh37: Chr11:532710 GRCh38: Chr11:532710	LRRC56, HRAS	H166Y, H87Y	Costello syndrome	Uncertain significance (Oct 1, 2022)	criteria provided, single submitter
Select item 156923477.	NM_005343.4(HRAS):c.495G>A (p.Gln165=) GRCh37: Chr11:532711 GRCh38: Chr11:532711	HRAS, LRRC56		Costello syndrome	Likely benign (Jun 29, 2021)	criteria provided, single submitter
Select item 77547678.	NM_005343.4(HRAS):c.492G>A (p.Arg164=) GRCh37: Chr11:532714 GRCh38: Chr11:532714	HRAS, LRRC56		Costello syndrome	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 94822379.	NM_005343.4(HRAS):c.491G>A (p.Arg164Gln) GRCh37: Chr11:532715 GRCh38: Chr11:532715	HRAS, LRRC56	R164Q, R85Q	Costello syndrome, not provided	Uncertain significance (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85042680.	NM_005343.4(HRAS):c.491G>C (p.Arg164Pro) GRCh37: Chr11:532715 GRCh38: Chr11:532715	HRAS, LRRC56	R164P, R85P	Costello syndrome, Malignant tumor of urinary bladder, Linear nevus sebaceous syndrome, Costello syndrome, Thyroid cancer, nonmedullary, 2, Large congenital melanocytic nevus, Epidermal nevus	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57970981.	NM_005343.4(HRAS):c.490C>T (p.Arg164Trp) GRCh37: Chr11:532716 GRCh38: Chr11:532716	HRAS, LRRC56	R164W, R85W	Costello syndrome, Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 241698282.	NM_005343.4(HRAS):c.489C>G (p.Ile163Met) GRCh37: Chr11:532717 GRCh38: Chr11:532717	HRAS, LRRC56	I163M, I84M	Costello syndrome	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 112276783.	NM_005343.4(HRAS):c.489C>A (p.Ile163=) GRCh37: Chr11:532717 GRCh38: Chr11:532717	HRAS, LRRC56		Costello syndrome	Likely benign (Feb 2, 2020)	criteria provided, single submitter
Select item 58075384.	NM_005343.4(HRAS):c.487A>T (p.Ile163Phe) GRCh37: Chr11:532719 GRCh38: Chr11:532719	LRRC56, HRAS	I163F, I84F	Costello syndrome	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 209819785.	NM_005343.4(HRAS):c.486G>C (p.Glu162Asp) GRCh37: Chr11:532720 GRCh38: Chr11:532720	HRAS, LRRC56	E162D, E83D	Costello syndrome	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 171332686.	NM_005343.4(HRAS):c.484G>C (p.Glu162Gln) GRCh37: Chr11:532722 GRCh38: Chr11:532722	HRAS, LRRC56	E162Q, E83Q	Costello syndrome	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 103483387.	NM_005343.4(HRAS):c.484G>A (p.Glu162Lys) GRCh37: Chr11:532722 GRCh38: Chr11:532722	HRAS, LRRC56	E162K, E83K	not provided, Costello syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 109173788.	NM_005343.4(HRAS):c.483T>C (p.Arg161=) GRCh37: Chr11:532723 GRCh38: Chr11:532723	HRAS, LRRC56		Costello syndrome	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 51743789.	NM_005343.4(HRAS):c.482G>A (p.Arg161His) GRCh37: Chr11:532724 GRCh38: Chr11:532724	HRAS, LRRC56	R161H, R82H	Costello syndrome, not specified	Uncertain significance (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169289090.	NM_005343.4(HRAS):c.481C>G (p.Arg161Gly) GRCh37: Chr11:532725 GRCh38: Chr11:532725	HRAS, LRRC56	R161G, R82G	Hereditary cancer-predisposing syndrome	Uncertain significance (Nov 8, 2021)	criteria provided, single submitter
Select item 64404191.	NM_005343.4(HRAS):c.481C>T (p.Arg161Cys) GRCh37: Chr11:532725 GRCh38: Chr11:532725	HRAS, LRRC56	R161C, R82C	Linear nevus sebaceous syndrome, Large congenital melanocytic nevus, Malignant tumor of urinary bladder, Costello syndrome, Thyroid cancer, nonmedullary, 2, Epidermal nevus, not provided, Costello syndrome	Uncertain significance (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 163184492.	NM_005343.4(HRAS):c.480G>C (p.Val160=) GRCh37: Chr11:532726 GRCh38: Chr11:532726	HRAS, LRRC56		Costello syndrome	Likely benign (Feb 7, 2021)	criteria provided, single submitter
Select item 193888693.	NM_005343.4(HRAS):c.479T>G (p.Val160Gly) GRCh37: Chr11:532727 GRCh38: Chr11:532727	HRAS, LRRC56	V81G, V160G	Costello syndrome	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 101998394.	NM_005343.4(HRAS):c.479T>C (p.Val160Ala) GRCh37: Chr11:532727 GRCh38: Chr11:532727	HRAS, LRRC56	V160A, V81A	Costello syndrome	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 212876095.	NM_005343.4(HRAS):c.477G>T (p.Leu159Phe) GRCh37: Chr11:532729 GRCh38: Chr11:532729	HRAS, LRRC56	L159F, L80F	Costello syndrome	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 4044696.	NM_005343.4(HRAS):c.477G>A (p.Leu159=) GRCh37: Chr11:532729 GRCh38: Chr11:532729	HRAS, LRRC56		RASopathy	Benign (Apr 18, 2017)	reviewed by expert panel FDA Recognized Database
Select item 134775697.	NM_005343.4(HRAS):c.476T>C (p.Leu159Ser) GRCh37: Chr11:532730 GRCh38: Chr11:532730	HRAS, LRRC56	L159S, L80S	Costello syndrome	Uncertain significance (Sep 8, 2022)	criteria provided, single submitter
Select item 46215598.	NM_005343.4(HRAS):c.474G>A (p.Thr158=) GRCh37: Chr11:532732 GRCh38: Chr11:532732	HRAS, LRRC56		Costello syndrome	Likely benign (Oct 8, 2020)	criteria provided, single submitter
Select item 214697799.	NM_005343.4(HRAS):c.473C>G (p.Thr158Arg) GRCh37: Chr11:532733 GRCh38: Chr11:532733	HRAS, LRRC56	T158R, T79R	Costello syndrome	Uncertain significance (Oct 29, 2022)	criteria provided, single submitter
Select item 134514100.	NM_005343.4(HRAS):c.473C>T (p.Thr158Met) GRCh37: Chr11:532733 GRCh38: Chr11:532733	HRAS, LRRC56	T158M, T79M	Costello syndrome	Uncertain significance (May 14, 2022)	criteria provided, single submitter

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