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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr11:61793-10749516
GRCh38:
Chr11:61793-10727969
ADM, AP2A2, AMPD3, APBB1, RHOG, ART1, ASCL2, CARS1, CCKBR, CD81, CD151, CDKN1C, TPP1, CNGA4, CTSD, DRD4, DUSP8, HBB, HBD, HBE1, HBG1, HBG2, HPX, HRAS, IGF2, ILK, INS, IRF7, KCNQ1, LMO1, LSP1, MUC2, MUC5AC, MUC6, NAP1L4, NUP98, SLC22A18, SLC22A18AS, POLR2L, PSMD13, RNH1, MRPL23, RPL27A, RPLP2, RRM1, SCT, SMPD1, TRIM21, DENND2B, STIM1, TAF10, TALDO1, TH, TSPAN4, TNNI2, TNNT3, PHLDA2, TUB, WEE1, ZNF143, ZNF195, ZNF214, ZNF215, RASSF7, PPFIBP2, IFITM1, OR6A2, DCHS1, EIF3F, BRSK2, TRIM66, TSPAN32, TSSC4, IRAG1, TRIM22, IFITM3, DEAF1, IPO7, IFITM2, TRIM3, LYVE1, KCNQ1OT1, PKP3, SWAP70, DENND5A, RRP8, SIRT3, OR52A1, ARFIP2, OR10A3, TIMM10B, RBMXL2, PGAP2, C11orf21, TRPM5, UBQLN3, RNF141, IGF2-AS, BET1L, CEND1, CYB5R2, TRIM34, CDHR5, TOLLIP, TRIM68, PIDD1, KCNQ1DN, MMP26, AKIP1, C11orf16, TMEM9B, NRIP3, ASCL3, CHRNA10, PNPLA2, PHRF1, SCUBE2, SIGIRR, RIC8A, MRPL17, EPS8L2, STK33, CHID1, OR52E1, OR51G1, OR51B4, OR51B2, OR51J1, OR52N1, RIC3, SLC25A22, PGGHG, OR51G2, OR51E2, PTDSS2, MOB2, SBF2, FHIP1B, TRIM5, SYT8, CAVIN3, ODF3, OSBPL5, LRRC56, MRGPRE, ART5, TRIM6, OR52E2, OR52J3, OR51L1, OR51A7, OR51S1, OR51F2, OR52R1, OR52M1, OR52K2, OR5P2, OR5P3, OR2D3, OR2D2, OR52W1, OR56A4, OR56A1, SYT9, OR52B4, C11orf40, OR52I2, OR51E1, UBQLNL, LOC143666, OR10A5, OR2AG1, DNHD1, SCGB1C1, C11orf42, NLRP6, LOC171391, OR56B4, TOLLIP-DT, OR52B2, LMNTD2, OR51F1, OR51B5, SBF2-AS1, OR51V1, H19, CRACR2B, TMEM80, OR10A4, OLFML1, LOC283299, MRGPRG-AS1, NLRP10, NLRP14, ANO9, KRTAP5-AS1, KCNQ1-AS1, B4GALNT4, OR52L1, OR2AG2, OR52B6, OR10A2, OVCH2, GATD1, MRGPRG, KRTAP5-1, KRTAP5-3, KRTAP5-4, IFITM5, FAM99A, OR56B1, OR52K1, OR52I1, OR51D1, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR52D1, OR52H1, OR52N4, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR52E5, OR56A3, OR56A5, OR10A6, OR51T1, OR51A4, OR51A2, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, TMEM41B, LINC02709, TMEM9B-AS1, MIR483, SNORA3A, SNORA52, LOC644656, SNORA23, SNORA3B, SNORA54, LMNTD2-AS1, INS-IGF2, MUC5B, MIR675, IRAG1-AS1, CAND1.11, FAM99B, LINC01001, MRPL23-AS1, TRL-CAA5-1, MIR302E, MIR4298, MTRNR2L8, LINC02749, MIR210HG, LOC100506258, MIR4686, MIR4485, MIR4687, MIR5691, CARS1-AS1, PANO1, LINC02688, LINC01150, CD81-AS1, LOC101927708, TUB-AS1, RIC3-DT, LOC101928008, MIR6743, MIR7847, MIR6744, PRR33, LOC102724784, HOTS, BGLT3, CASC23, LINC01219, HBB-3'HS1, H19-ICR, LOC105274310, LOC105376526, STIM1-AS1, NRIP3-DT, ADM-DT, HBB-HS-111, LOC106099062, LOC106099063, LOC106099064, LOC106099065, SNORD131, LOC106783508, LOC106799843, LOC106865369, LOC107133510, HBB-LCR, LOC109623489, A-GAMMA3'E, LOC109951029, LOC110006319, LOC110008579, LOC110011217, LOC110013311, LOC110121378, LOC110121453, HS-E1, HBB-HS-107, LOC111718490, LOC112067719, LOC112067720, LOC112081391, LOC112081400, LOC112081404, LOC112081405, LOC112136080, LOC112136081, LOC112136092, LOC112136094, MUC5B-AS1, LOC113939920, LOC113939924, LOC113939927, LOC113939928, LOC114827852, LOC116216126, LOC116216127, LOC116216128, LOC116216129
See casesPathogenic
(Apr 30, 2011)
no assertion criteria providedVCV000151263
2.
GRCh37:
Chr11:196855-2137415
GRCh38:
Chr11:196855-2116185
See casesPathogenic
(Aug 13, 2012)
no assertion criteria providedVCV000154856
3.
GRCh37:
Chr11:196855-5343104
GRCh38:
Chr11:196855-5321874
AP2A2, RHOG, ART1, ASCL2, CARS1, CD81, CD151, CDKN1C, CTSD, DRD4, DUSP8, HBB, HBD, HBE1, HBG1, HBG2, HRAS, IGF2, INS, IRF7, KCNQ1, LSP1, MUC2, MUC5AC, MUC6, NAP1L4, NUP98, SLC22A18, SLC22A18AS, POLR2L, PSMD13, RNH1, MRPL23, RPLP2, RRM1, SCT, TRIM21, STIM1, TALDO1, TH, TSPAN4, TNNI2, TNNT3, PHLDA2, ZNF195, RASSF7, IFITM1, BRSK2, TSPAN32, TSSC4, IFITM3, DEAF1, IFITM2, KCNQ1OT1, PKP3, SIRT3, OR52A1, PGAP2, C11orf21, TRPM5, IGF2-AS, BET1L, CEND1, CDHR5, TOLLIP, TRIM68, PIDD1, KCNQ1DN, MMP26, CHRNA10, PNPLA2, PHRF1, SIGIRR, RIC8A, EPS8L2, CHID1, OR52E1, OR51G1, OR51B4, SLC25A22, PGGHG, OR51G2, OR51E2, PTDSS2, MOB2, SYT8, ODF3, OSBPL5, LRRC56, MRGPRE, ART5, OR52E2, OR52J3, OR51L1, OR51A7, OR51S1, OR51F2, OR52R1, OR52M1, OR52K2, OR52B4, C11orf40, OR52I2, OR51E1, LOC143666, NLRP6, LOC171391, TOLLIP-DT, LMNTD2, OR51F1, OR51V1, H19, CRACR2B, TMEM80, MRGPRG-AS1, ANO9, KRTAP5-AS1, KCNQ1-AS1, B4GALNT4, GATD1, MRGPRG, KRTAP5-1, KRTAP5-3, KRTAP5-4, IFITM5, FAM99A, OR52K1, OR52I1, OR51D1, OR52A5, OR51T1, OR51A4, OR51A2, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, MIR483, SNORA52, SNORA54, LMNTD2-AS1, INS-IGF2, MUC5B, MIR675, FAM99B, MRPL23-AS1, MIR4298, LINC02749, MIR210HG, MIR4686, MIR4687, CARS1-AS1, PANO1, LINC02688, LINC01150, CD81-AS1, LOC101927708, MIR6743, MIR7847, MIR6744, PRR33, HOTS, BGLT3, LINC01219, HBB-3'HS1, H19-ICR, LOC105274310, LOC105376526, STIM1-AS1, LOC106099062, LOC106099063, LOC106099064, LOC106099065, SNORD131, LOC106783508, LOC106799843, LOC106865369, LOC107133510, HBB-LCR, LOC109623489, A-GAMMA3'E, LOC109951029, LOC110006319, LOC110008579, LOC110011217, LOC110013311, LOC110121378, HS-E1, LOC111718490, LOC112067719, LOC112067720, LOC112081391, MUC5B-AS1, LOC113939920, LOC116216126, LOC116216127, LOC116216128
See casesPathogenic
(Aug 13, 2012)
no assertion criteria providedVCV000154823
4.
GRCh37:
Chr11:196966-3398307
GRCh38:
Chr11:196966-3377077
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057274
5.
GRCh37:
Chr11:196966-4456574
GRCh38:
Chr11:196966-4435344
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057258
6.
GRCh37:
Chr11:202758-31747772
GRCh38:
Chr11:202758-31726224
ADM, AP2A2, AMPD3, APBB1, RHOG, ARNTL, ART1, ASCL2, BDNF, MPPED2, CALCA, CALCB, CARS1, CCKBR, CD81, CD151, CDKN1C, TPP1, CNGA4, COPB1, CTSD, DRD4, DUSP8, EIF4G2, FANCF, FSHB, GAS2, GTF2H1, HBB, HBD, HBE1, HBG1, HBG2, HPX, HRAS, IGF2, ILK, INS, IRF7, KCNA4, KCNC1, KCNJ11, KCNQ1, LDHA, LDHC, LMO1, LSP1, MUC2, MUC5AC, MUC6, MYOD1, NAP1L4, NELL1, NUCB2, NUP98, SLC22A18, SLC22A18AS, PDE3B, PIK3C2A, POLR2L, PSMA1, PSMD13, PTH, RNH1, MRPL23, RPL27A, RPLP2, RPS13, RRM1, SAA1, SAA2, SAA4, SCT, SMPD1, TRIM21, DENND2B, STIM1, ABCC8, TAF10, TALDO1, TEAD1, TH, TSPAN4, TNNI2, TNNT3, TPH1, TSG101, PHLDA2, TUB, WEE1, ZNF143, ZNF195, ZNF214, ZNF215, RASSF7, CSRP3, BBOX1, PPFIBP2, IFITM1, OR6A2, DCHS1, EIF3F, BRSK2, SLC6A5, MICAL2, CTR9, TRIM66, TSPAN32, TSSC4, USH1C, PRMT3, IRAG1, TRIM22, IFITM3, SPON1, DEAF1, IPO7, HTATIP2, IFITM2, TRIM3, LYVE1, C11orf58, KCNQ1OT1, PKP3, HPS5, RRAS2, SWAP70, DENND5A, RRP8, SIRT3, OR52A1, ARFIP2, SERGEF, OR10A3, TIMM10B, ELP4, SNORD14A, DKK3, RBMXL2, PGAP2, C11orf21, TRPM5, UBQLN3, RNF141, IGF2-AS, BET1L, CEND1, CYB5R2, TRIM34, CDHR5, TOLLIP, ZDHHC13, USP47, TRIM68, UEVLD, LIN7C, LGR4, PIDD1, KCNQ1DN, SOX6, PARVA, MMP26, AKIP1, C11orf16, TMEM9B, NRIP3, ASCL3, CHRNA10, SLC17A6, PNPLA2, PHRF1, SCUBE2, ZBED5, SIGIRR, RIC8A, MRPL17, ANO3, EPS8L2, STK33, CHID1, OR52E1, OR51G1, OR51B4, OR51B2, OR51J1, OR52N1, RIC3, E2F8, SLC25A22, PGGHG, OR51G2, OR51E2, PTDSS2, MOB2, SBF2, KIF18A, FHIP1B, FAR1, BTBD10, PTPN5, MICALCL, TRIM5, SNORD14B, NAV2, SYT8, CCDC34, CAVIN3, SAAL1, OSBPL5, LRRC56, MRGPRE, ART5, MRGPRX2, MRGPRX3, MRGPRX4, TRIM6, OR52E2, OR52J3, OR51L1, OR51A7, OR51S1, OR51F2, OR52R1, OR52M1, OR52K2, OR5P2, OR5P3, CYP2R1, DBX1, DNAJC24, ARL14EP, OR2D3, OR2D2, OR52W1, OR56A4, OR56A1, SYT9, OR52B4, C11orf40, OR52I2, OR51E1, UBQLNL, MUC15, LOC143666, PLEKHA7, SPTY2D1, TMEM86A, OR10A5, OR2AG1, DNHD1, SLC5A12, LDHAL6A, C11orf42, NLRP6, LOC171391, METTL15, IMMP1L, OR56B4, ANO5, TOLLIP-DT, OR52B2, LMNTD2, OR51F1, SVIP, MRGPRX1, OR51B5, SBF2-AS1, CSNK2A3, OR51V1, H19, CRACR2B, TMEM80, IGSF22, OR10A4, OLFML1, LOC283299, MRGPRG-AS1, NLRP10, NLRP14, ANO9, LUZP2, KRTAP5-AS1, KCNQ1-AS1, B4GALNT4, OR52L1, OR2AG2, OR52B6, OTOG, DCDC1, OR10A2, OVCH2, GATD1, GALNT18, NCR3LG1, MRGPRG, KRTAP5-1, KRTAP5-3, KRTAP5-4, IFITM5, FAM99A, OR56B1, INSC, FIBIN, OR52K1, OR52I1, OR51D1, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR52D1, OR52H1, OR52N4, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR52E5, OR56A3, OR56A5, OR10A6, NAV2-AS4, OR51T1, OR51A4, OR51A2, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, TMEM41B, LINC02709, TMEM9B-AS1, BDNF-AS, MIR483, SNORA3A, SNORA52, LOC644656, RASSF10, SNORA23, SNORA3B, SNORA54, SNORD97, LMNTD2-AS1, MIR610, INS-IGF2, MUC5B, ZBED5-AS1, MIR675, NAV2-AS6, IRAG1-AS1, CAND1.11, FAM99B, MRPL23-AS1, TRL-CAA5-1, MIR302E, MIR3159, MIR4298, MIR4299, MTRNR2L8, CCDC179, LINC02749, MIR210HG, LOC100506258, LINC00958, SPTY2D1OS, SAA2-SAA4, MIR4486, MIR4686, MIR4485, MIR4694, MIR4687, MIR5691, CARS1-AS1, NAV2-AS5, NAV2-AS2, LINC00678, PANO1, LINC02688, LINC01150, CD81-AS1, LOC101927708, TUB-AS1, RIC3-DT, LOC101928008, LOC101928053, LINC02683, LINC02859, MIR6073, MIR6743, MIR8054, MIR8070, MIR8087, MIR7847, MIR6744, MIR8068, MIR6124, LINC02729, LINC01495, PRR33, LOC102724784, LOC102724957, HOTS, BGLT3, CASC23, BBOX1-AS1, LINC01219, HBB-3'HS1, H19-ICR, LOC105274310, LOC105376526, STIM1-AS1, NRIP3-DT, ADM-DT, LINC02547, RASSF10-DT, LINC02545, LINC02548, LINC02751, LINC02682, LOC105376575, CSRP3-AS1, LINC02718, LINC02726, LINC02686, LINC02699, ANO3-AS1, LINC02758, LINC02742, LINC02755, LINC02546, ARL14EP-DT, MPPED2-AS1, LGR4-AS1, PAX6DRR, LOC105980005, LOC105980073, PAX6_HS8, HBB-HS-111, LOC106099062, LOC106099063, LOC106099064, LOC106099065, LINC01616, SNORD131, LOC106736470, LOC106783508, LOC106799843, LOC106865369, LOC107133510, LOC107988023, LOC108178983, LOC108178984, LOC108254681, LOC108281125, HBB-LCR, SNORD147, LOC109623489, A-GAMMA3'E, LOC109951029, LOC110006319, LOC110008579, LOC110011217, LOC110013311, LOC110120848, LOC110120922, LOC110120926, LOC110120947, LOC110121340, LOC110121343, LOC110121378, LOC110121434, LOC110121453, LOC110121471, LOC110121483, LOC110121487, LOC110121488, HS-E1, HBB-HS-107, LOC111365162, LOC111413037, LOC111718490, LOC111982890, LOC112042781, LOC112042782, LOC112067712, LOC112067713, LOC112067714, LOC112067715, LOC112067716, LOC112067717, LOC112067718, LOC112067719, LOC112067720, LOC112081391, LOC112081400, LOC112081404, LOC112081405, LOC112136080, LOC112136081, LOC112136092, LOC112136094, MUC5B-AS1, LOC113939920, LOC113939921, LOC113939924, LOC113939927, LOC113939928, LOC114827852, LOC116216126, LOC116216127, LOC116216128, LOC116216129
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059747
7.
GRCh37:
Chr11:218365-3398307
GRCh38:
Chr11:218365-3377077
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059748
8.
GRCh37:
Chr11:446754-18926289
GRCh38:
Chr11:446754-18904742
C11orf16, TMEM9B, NRIP3, ASCL3, CHRNA10, PNPLA2, PHRF1, SCUBE2, ZBED5, MRPL17, EPS8L2, STK33, CHID1, OR52E1, OR51G1, OR51B4, OR51B2, OR51J1, OR52N1, RIC3, SLC25A22, OR51G2, OR51E2, PTDSS2, MOB2, SBF2, FHIP1B, FAR1, BTBD10, PTPN5, MICALCL, TRIM5, SNORD14B, SYT8, CAVIN3, SAAL1, OSBPL5, LRRC56, MRGPRE, ART5, MRGPRX3, MRGPRX4, TRIM6, OR52E2, OR52J3, OR51L1, OR51A7, OR51S1, OR51F2, OR52R1, OR52M1, OR52K2, OR5P2, OR5P3, CYP2R1, OR2D3, OR2D2, OR52W1, OR56A4, OR56A1, SYT9, OR52B4, C11orf40, OR52I2, OR51E1, UBQLNL, LOC143666, PLEKHA7, SPTY2D1, TMEM86A, OR10A5, OR2AG1, DNHD1, LDHAL6A, C11orf42, LOC171391, OR56B4, TOLLIP-DT, OR52B2, LMNTD2, OR51F1, OR51B5, SBF2-AS1, CSNK2A3, OR51V1, H19, CRACR2B, TMEM80, IGSF22, OR10A4, OLFML1, LOC283299, MRGPRG-AS1, NLRP10, NLRP14, KRTAP5-AS1, KCNQ1-AS1, OR52L1, OR2AG2, OR52B6, OTOG, OR10A2, OVCH2, GATD1, GALNT18, NCR3LG1, MRGPRG, KRTAP5-1, KRTAP5-3, KRTAP5-4, FAM99A, OR56B1, INSC, OR52K1, OR52I1, OR51D1, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR52D1, OR52H1, OR52N4, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR52E5, OR56A3, OR56A5, OR10A6, OR51T1, OR51A4, OR51A2, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, TMEM41B, LINC02709, TMEM9B-AS1, MIR483, SNORA3A, SNORA52, LOC644656, RASSF10, SNORA23, SNORA3B, SNORA54, SNORD97, LMNTD2-AS1, INS-IGF2, MUC5B, ZBED5-AS1, MIR675, IRAG1-AS1, CAND1.11, FAM99B, MRPL23-AS1, TRL-CAA5-1, MIR302E, MIR3159, MIR4298, MIR4299, MTRNR2L8, LINC02749, MIR210HG, LOC100506258, LINC00958, SPTY2D1OS, SAA2-SAA4, MIR4686, MIR4485, MIR4687, MIR5691, CARS1-AS1, PANO1, LINC02688, LINC01150, CD81-AS1, LOC101927708, TUB-AS1, RIC3-DT, LOC101928008, LOC101928053, LINC02683, MIR6073, MIR8070, MIR7847, MIR6744, MIR6124, LINC02729, PRR33, LOC102724784, LOC102724957, HOTS, BGLT3, CASC23, LINC01219, HBB-3'HS1, H19-ICR, LOC105274310, LOC105376526, STIM1-AS1, NRIP3-DT, ADM-DT, LINC02547, RASSF10-DT, LINC02545, LINC02548, LINC02751, LINC02682, LOC105376575, HBB-HS-111, LOC106099062, LOC106099063, LOC106099064, LOC106099065, SNORD131, LOC106736470, LOC106783508, LOC106799843, LOC106865369, LOC107133510, LOC107988023, LOC108254681, LOC108281125, HBB-LCR, SNORD147, LOC109623489, A-GAMMA3'E, LOC109951029, LOC110006319, LOC110008579, LOC110011217, LOC110013311, LOC110120848, LOC110120922, LOC110120926, LOC110120947, LOC110121340, LOC110121343, LOC110121378, LOC110121434, LOC110121453, LOC110121471, LOC110121483, HS-E1, HBB-HS-107, LOC111413037, LOC111718490, LOC111982890, LOC112042781, LOC112042782, LOC112067712, LOC112067713, LOC112067714, LOC112067715, LOC112067716, LOC112067719, LOC112067720, LOC112081391, LOC112081400, LOC112081404, LOC112081405, LOC112136080, LOC112136081, LOC112136092, LOC112136094, MUC5B-AS1, LOC113939920, LOC113939924, LOC113939927, LOC113939928, LOC114827852, LOC116216127, LOC116216128, LOC116216129, ADM, AP2A2, AMPD3, APBB1, RHOG, ARNTL, ART1, ASCL2, CALCA, CALCB, CARS1, CCKBR, CD81, CD151, CDKN1C, TPP1, CNGA4, COPB1, CTSD, DRD4, DUSP8, EIF4G2, GTF2H1, HBB, HBD, HBE1, HBG1, HBG2, HPX, HRAS, IGF2, ILK, INS, IRF7, KCNC1, KCNJ11, KCNQ1, LDHA, LDHC, LMO1, LSP1, MUC2, MUC5AC, MUC6, MYOD1, NAP1L4, NUCB2, NUP98, SLC22A18, SLC22A18AS, PDE3B, PIK3C2A, POLR2L, PSMA1, PTH, RNH1, MRPL23, RPL27A, RPLP2, RPS13, RRM1, SAA1, SAA2, SAA4, SCT, SMPD1, TRIM21, DENND2B, STIM1, ABCC8, TAF10, TALDO1, TEAD1, TH, TSPAN4, TNNI2, TNNT3, TPH1, TSG101, ZNF215, PHLDA2, TUB, WEE1, ZNF143, ZNF195, ZNF214, RASSF7, PPFIBP2, OR6A2, DCHS1, EIF3F, BRSK2, MICAL2, CTR9, TRIM66, TSPAN32, TSSC4, USH1C, IRAG1, TRIM22, SPON1, DEAF1, IPO7, TRIM3, LYVE1, C11orf58, KCNQ1OT1, HPS5, RRAS2, SWAP70, DENND5A, RRP8, OR52A1, ARFIP2, SERGEF, OR10A3, TIMM10B, SNORD14A, DKK3, RBMXL2, PGAP2, C11orf21, TRPM5, UBQLN3, RNF141, IGF2-AS, CEND1, CYB5R2, TRIM34, CDHR5, TOLLIP, USP47, TRIM68, UEVLD, PIDD1, KCNQ1DN, SOX6, PARVA, MMP26, AKIP1
See casesPathogenic
(Apr 30, 2010)
no assertion criteria providedVCV000144515
9.
GRCh37:
Chr11:532524
GRCh38:
Chr11:532524
HRAS, LRRC56not specifiedLikely benign
(Feb 24, 2012)
criteria provided, single submitterVCV000040450
10.
GRCh37:
Chr11:532573-534003
GRCh38:
Chr11:532573-534003
HRAS, LRRC56Costello syndromeUncertain significance
(Dec 20, 2018)
criteria provided, single submitterVCV000976046
11.
GRCh37:
Chr11:532611
GRCh38:
Chr11:532611
HRAS, LRRC56not specifiedBenign
(Mar 10, 2015)
criteria provided, single submitterVCV000377968
12.
GRCh37:
Chr11:532617
GRCh38:
Chr11:532617
HRAS, LRRC56not providedLikely benign
(May 23, 2018)
criteria provided, single submitterVCV000561343
13.
GRCh37:
Chr11:532617
GRCh38:
Chr11:532617
HRAS, LRRC56not specifiedBenign
(May 18, 2012)
criteria provided, single submitterVCV000137558
14.
GRCh37:
Chr11:532626-534332
GRCh38:
Chr11:532626-534332
HRAS, LRRC56Costello syndromeUncertain significance
(Jul 1, 2019)
criteria provided, single submitterVCV000656817
15.
GRCh37:
Chr11:532631-532755
GRCh38:
Chr11:532631-532755
HRAS, LRRC56Costello syndromeUncertain significance
(Aug 31, 2016)
criteria provided, single submitterVCV000417510
16.
GRCh37:
Chr11:532631-534375
GRCh38:
Chr11:532631-534375
HRAS, LRRC56not specifiedUncertain significance
(Jul 31, 2014)
criteria provided, single submitterVCV000179613
17.
GRCh37:
Chr11:532635
GRCh38:
Chr11:532635
HRAS, LRRC56not provided, not specifiedBenign/Likely benign
(Jul 5, 2016)
criteria provided, multiple submitters, no conflictsVCV000137557
18.
GRCh37:
Chr11:532640
GRCh38:
Chr11:532640
HRAS, LRRC56S110F, S189FCostello syndromeUncertain significance
(Jul 22, 2019)
criteria provided, single submitterVCV000940755
19.
GRCh37:
Chr11:532641
GRCh38:
Chr11:532641
HRAS, LRRC56S189A, S110ACostello syndromeUncertain significance
(Nov 26, 2019)
criteria provided, single submitterVCV000856240
20.
GRCh37:
Chr11:532646
GRCh38:
Chr11:532646
HRAS, LRRC56V108A, V187ACostello syndromeUncertain significance
(Jul 21, 2020)
criteria provided, single submitterVCV001011612
21.
GRCh37:
Chr11:532653-532654
GRCh38:
Chr11:532653-532654
HRAS, LRRC56K185fs, K106fsCostello syndromeUncertain significance
(Nov 3, 2017)
criteria provided, single submitterVCV000531191
22.
GRCh37:
Chr11:532658
GRCh38:
Chr11:532658
HRAS, LRRC56S104N, S183NNoonan syndrome, Costello syndromeUncertain significance
(Dec 5, 2019)
criteria provided, single submitterVCV000836160
23.
GRCh37:
Chr11:532660
GRCh38:
Chr11:532660
HRAS, LRRC56M182I, M103ICostello syndromeUncertain significance
(Dec 31, 2019)
criteria provided, single submitterVCV000240138
24.
GRCh37:
Chr11:532661
GRCh38:
Chr11:532661
HRAS, LRRC56M103T, M182TCostello syndromeUncertain significance
(May 5, 2020)
criteria provided, single submitterVCV001038544
25.
GRCh37:
Chr11:532662
GRCh38:
Chr11:532662
HRAS, LRRC56M103L, M182LCostello syndromeUncertain significance
(Oct 1, 2020)
criteria provided, single submitterVCV000946957
26.
GRCh37:
Chr11:532662
GRCh38:
Chr11:532662
HRAS, LRRC56M182V, M103Vnot provided, Costello syndromeUncertain significance
(May 18, 2019)
criteria provided, multiple submitters, no conflictsVCV000180853
27.
GRCh37:
Chr11:532664
GRCh38:
Chr11:532664
HRAS, LRRC56C102Y, C181YCostello syndromeUncertain significance
(Oct 9, 2020)
criteria provided, single submitterVCV001042310
28.
GRCh37:
Chr11:532667
GRCh38:
Chr11:532667
HRAS, LRRC56G101D, G180DCostello syndromeUncertain significance
(May 16, 2019)
criteria provided, single submitterVCV000948441
29.
GRCh37:
Chr11:532668
GRCh38:
Chr11:532668
HRAS, LRRC56G101S, G180SCostello syndromeUncertain significance
(Nov 23, 2018)
criteria provided, single submitterVCV000654278
30.
GRCh37:
Chr11:532669
GRCh38:
Chr11:532669
HRAS, LRRC56Costello syndromeLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000415878
31.
GRCh37:
Chr11:532671
GRCh38:
Chr11:532671
HRAS, LRRC56P100A, P179ACostello syndromeLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000724759
32.
GRCh37:
Chr11:532672
GRCh38:
Chr11:532672
HRAS, LRRC56Costello syndromeLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000415883
33.
GRCh37:
Chr11:532674
GRCh38:
Chr11:532674
HRAS, LRRC56G178R, G99RCostello syndromeUncertain significance
(Aug 5, 2018)
criteria provided, single submitterVCV000660554
34.
GRCh37:
Chr11:532686
GRCh38:
Chr11:532686
HRAS, LRRC56P174A, P95ANoonan syndrome, Costello syndromeUncertain significance
(Nov 26, 2018)
criteria provided, single submitterVCV000643338
35.
GRCh37:
Chr11:532686
GRCh38:
Chr11:532686
HRAS, LRRC56P174S, P95Snot specified, Rasopathy, Urinary bladder cancer,
Costello syndrome, Epidermal nevus, Epidermal nevus syndrome,
Thyroid cancer, nonmedullary, 2, Large congenital melanocytic nevus, Costello syndrome
Benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000040448
36.
GRCh37:
Chr11:532687
GRCh38:
Chr11:532687
HRAS, LRRC56Costello syndromeLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000415881
37.
GRCh37:
Chr11:532688
GRCh38:
Chr11:532688
HRAS, LRRC56P173L, P94LCostello syndrome, Intellectual disabilityUncertain significance
(Sep 10, 2020)
criteria provided, multiple submitters, no conflictsVCV000462156
38.
GRCh37:
Chr11:532689
GRCh38:
Chr11:532689
HRAS, LRRC56P173S, P94SCostello syndromeUncertain significance
(Oct 9, 2020)
criteria provided, single submitterVCV001024818
39.
GRCh37:
Chr11:532690
GRCh38:
Chr11:532690
HRAS, LRRC56not specified, Costello syndromeLikely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000415885
40.
GRCh37:
Chr11:532696
GRCh38:
Chr11:532696
HRAS, LRRC56Rasopathy, not specified, Costello syndrome
Likely benign
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000045305
41.
GRCh37:
Chr11:532698
GRCh38:
Chr11:532698
LRRC56, HRASK170*, K91*not provided, Costello syndromeUncertain significance
(Jun 27, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000040447
42.
GRCh37:
Chr11:532700
GRCh38:
Chr11:532700
HRAS, LRRC56R169L, R90LCostello syndromeUncertain significance
(Jul 9, 2020)
criteria provided, single submitterVCV001035699
43.
GRCh37:
Chr11:532700
GRCh38:
Chr11:532700
HRAS, LRRC56R169Q, R90QCostello syndrome, not providedUncertain significance
(Jul 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000180856
44.
GRCh37:
Chr11:532701
GRCh38:
Chr11:532701
HRAS, LRRC56R169W, R90WCostello syndrome, not specifiedUncertain significance
(Sep 13, 2020)
criteria provided, multiple submitters, no conflictsVCV000177918
45.
GRCh37:
Chr11:532703
GRCh38:
Chr11:532703
LRRC56, HRASL168P, L89PCostello syndromeUncertain significance
(Jun 25, 2019)
criteria provided, single submitterVCV000935131
46.
GRCh37:
Chr11:532708
GRCh38:
Chr11:532708
HRAS, LRRC56H166Q, H87QCostello syndromeUncertain significance
(Aug 7, 2020)
criteria provided, single submitterVCV000240136
47.
GRCh37:
Chr11:532709
GRCh38:
Chr11:532709
HRAS, LRRC56H166R, H87RCostello syndromeUncertain significance
(Aug 14, 2020)
criteria provided, single submitterVCV001019189
48.
GRCh37:
Chr11:532714
GRCh38:
Chr11:532714
HRAS, LRRC56Costello syndromeLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000775476
49.
GRCh37:
Chr11:532715
GRCh38:
Chr11:532715
HRAS, LRRC56R164Q, R85QCostello syndromeUncertain significance
(Sep 11, 2019)
criteria provided, single submitterVCV000948223
50.
GRCh37:
Chr11:532715
GRCh38:
Chr11:532715
HRAS, LRRC56R164P, R85PCostello syndromeUncertain significance
(Jul 19, 2020)
criteria provided, single submitterVCV000850426
51.
GRCh37:
Chr11:532716
GRCh38:
Chr11:532716
HRAS, LRRC56R164W, R85WCostello syndromeUncertain significance
(Feb 25, 2018)
criteria provided, single submitterVCV000579709
52.
GRCh37:
Chr11:532719
GRCh38:
Chr11:532719
HRAS, LRRC56I163F, I84FCostello syndromeUncertain significance
(Nov 21, 2019)
criteria provided, single submitterVCV000580753
53.
GRCh37:
Chr11:532722
GRCh38:
Chr11:532722
HRAS, LRRC56E162K, E83KCostello syndromeUncertain significance
(Sep 3, 2020)
criteria provided, single submitterVCV001034833
54.
GRCh37:
Chr11:532724
GRCh38:
Chr11:532724
LRRC56, HRASR161H, R82Hnot specified, Costello syndromeUncertain significance
(May 29, 2019)
criteria provided, multiple submitters, no conflictsVCV000517437
55.
GRCh37:
Chr11:532725
GRCh38:
Chr11:532725
HRAS, LRRC56R161C, R82CCostello syndromeUncertain significance
(Jan 1, 2019)
criteria provided, single submitterVCV000644041
56.
GRCh37:
Chr11:532727
GRCh38:
Chr11:532727
HRAS, LRRC56V160A, V81ACostello syndromeUncertain significance
(Sep 8, 2020)
criteria provided, single submitterVCV001019983
57.
GRCh37:
Chr11:532729
GRCh38:
Chr11:532729
HRAS, LRRC56Rasopathy, Costello syndrome, none provided,
not specified
Benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000040446
58.
GRCh37:
Chr11:532732
GRCh38:
Chr11:532732
HRAS, LRRC56not providedLikely benign
(Jun 13, 2018)
criteria provided, single submitterVCV000462155
59.
GRCh37:
Chr11:532733
GRCh38:
Chr11:532733
HRAS, LRRC56T158M, T79MCostello syndrome, not specifiedUncertain significance
(Feb 27, 2020)
criteria provided, single submitterVCV000134514
60.
GRCh37:
Chr11:532737
GRCh38:
Chr11:532737
HRAS, LRRC56Y157H, Y78HCostello syndromeUncertain significance
(Oct 9, 2020)
criteria provided, single submitterVCV001008068
61.
GRCh37:
Chr11:532738
GRCh38:
Chr11:532738
HRAS, LRRC56not specifiedLikely benign
(Jan 12, 2015)
criteria provided, single submitterVCV000227430
62.
GRCh37:
Chr11:532742
GRCh38:
Chr11:532742
HRAS, LRRC56A76V, A155VCostello syndromeUncertain significance
(Nov 7, 2019)
criteria provided, single submitterVCV000964643
63.
GRCh37:
Chr11:532743
GRCh38:
Chr11:532743
HRAS, LRRC56A76S, A155SCostello syndromeUncertain significance
(Oct 10, 2019)
criteria provided, single submitterVCV000936794
64.
GRCh37:
Chr11:532745
GRCh38:
Chr11:532745
HRAS, LRRC56D154V, D75VCostello syndromeUncertain significance
(Jun 18, 2018)
criteria provided, single submitterVCV000578573
65.
GRCh37:
Chr11:532746
GRCh38:
Chr11:532746
HRAS, LRRC56D154N, D75NCostello syndrome, not providedUncertain significance
(Oct 11, 2020)
criteria provided, multiple submitters, no conflictsVCV000040445
66.
GRCh37:
Chr11:532754
GRCh38:
Chr11:532754
HRAS, LRRC56G151A, G72ACostello syndromeUncertain significance
(Sep 19, 2019)
criteria provided, single submitterVCV000462154
67.
GRCh37:
Chr11:532758
GRCh38:
Chr11:532758
HRAS, LRRC56Costello syndromeUncertain significance
(Jun 17, 2019)
criteria provided, single submitterVCV000648589
68.
GRCh37:
Chr11:532759
GRCh38:
Chr11:532759
HRAS, LRRC56Costello syndrome, Noonan syndromeLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000666417
69.
GRCh37:
Chr11:532760
GRCh38:
Chr11:532760
HRAS, LRRC56not specified, Costello syndromeLikely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000514968
70.
GRCh37:
Chr11:532760
GRCh38:
Chr11:532760
HRAS, LRRC56not provided, Costello syndromeConflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretationsVCV000415886
71.
GRCh37:
Chr11:532761
GRCh38:
Chr11:532761
HRAS, LRRC56Costello syndromeUncertain significance
(Sep 10, 2019)
criteria provided, single submitterVCV000955868
72.
GRCh37:
Chr11:532763
GRCh38:
Chr11:532763
HRAS, LRRC56Costello syndromeLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000706417
73.
GRCh37:
Chr11:532765
GRCh38:
Chr11:532765
HRAS, LRRC56Costello syndromeLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000721681
74.
GRCh37:
Chr11:532803
GRCh38:
Chr11:532803
HRAS, LRRC56not providedLikely benign
(Jun 19, 2018)
criteria provided, single submitterVCV000561443
75.
GRCh37:
Chr11:532923
GRCh38:
Chr11:532923
HRAS, LRRC56not providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000561388
76.
GRCh37:
Chr11:533037
GRCh38:
Chr11:533037
HRAS, LRRC56not providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000561855
77.
GRCh37:
Chr11:533096
GRCh38:
Chr11:533096
HRAS, LRRC56not providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV000561445
78.
GRCh37:
Chr11:533279
GRCh38:
Chr11:533279
HRAS, LRRC56A71Tnot providedLikely benign
(Apr 1, 2016)
criteria provided, single submitterVCV000379346
79.
GRCh37:
Chr11:533282
GRCh38:
Chr11:533282
HRAS, LRRC56R70Cnot specifiednot provided
(Jul 1, 2014)
no assertion providedVCV000179859
80.
GRCh37:
Chr11:533302-533321
GRCh38:
Chr11:533302-533321
HRAS, LRRC56L163fs, S57fsRasopathyBenign
(Nov 4, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000830080
81.
GRCh37:
Chr11:533308-533309
GRCh38:
Chr11:533308-533309
HRAS, LRRC56P169fs, R61fsCostello syndromeUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000522672
82.
GRCh37:
Chr11:533309
GRCh38:
Chr11:533309
HRAS, LRRC56P167L, R61Wnot specifiedLikely benign
(Apr 26, 2012)
criteria provided, single submitterVCV000040444
83.
GRCh37:
Chr11:533329
GRCh38:
Chr11:533329
HRAS, LRRC56P54Lnot providedLikely benign
(Mar 17, 2016)
criteria provided, single submitterVCV000384895
84.
GRCh37:
Chr11:533340-533341
GRCh38:
Chr11:533340-533341
LRRC56, HRASNoonan syndromeUncertain significanceno assertion criteria providedVCV000981548
85.
GRCh37:
Chr11:533369
GRCh38:
Chr11:533369
HRAS, LRRC56not specifiedUncertain significance
(Feb 4, 2014)
criteria provided, single submitterVCV000179526
86.
GRCh37:
Chr11:533414-533415
GRCh38:
Chr11:533414-533415
HRAS, LRRC56Squamous cell lung carcinomaUncertain significance
(May 5, 2020)
no assertion criteria providedVCV000873189
87.
GRCh37:
Chr11:533418
GRCh38:
Chr11:533418
HRAS, LRRC56Squamous cell lung carcinomaUncertain significance
(May 5, 2020)
no assertion criteria providedVCV000873190
88.
GRCh37:
Chr11:533422
GRCh38:
Chr11:533422
HRAS, LRRC56Squamous cell lung carcinomaUncertain significance
(May 5, 2020)
no assertion criteria providedVCV000873191
89.
GRCh37:
Chr11:533433
GRCh38:
Chr11:533433
HRAS, LRRC56not specifiedUncertain significance
(Dec 16, 2019)
criteria provided, single submitterVCV000929129
90.
GRCh37:
Chr11:533435
GRCh38:
Chr11:533435
HRAS, LRRC56not providedLikely benign
(Apr 14, 2016)
criteria provided, single submitterVCV000385544
91.
GRCh37:
Chr11:533436
GRCh38:
Chr11:533436
HRAS, LRRC56not specifiedUncertain significance
(Feb 24, 2020)
criteria provided, single submitterVCV000917726
92.
GRCh37:
Chr11:533455
GRCh38:
Chr11:533455
HRAS, LRRC56Q150*not providedUncertain significance
(Oct 13, 2017)
criteria provided, single submitterVCV000424493
93.
GRCh37:
Chr11:533458
GRCh38:
Chr11:533458
HRAS, LRRC56R149WCostello syndrome, not provided, not specified
Uncertain significance
(Sep 9, 2020)
criteria provided, multiple submitters, no conflictsVCV000503536
94.
GRCh37:
Chr11:533462
GRCh38:
Chr11:533462
HRAS, LRRC56R41Knot providedLikely benign
(Jun 28, 2018)
criteria provided, single submitterVCV000462153
95.
GRCh37:
Chr11:533466
GRCh38:
Chr11:533466
HRAS, LRRC56A146V, P40SNeoplasm of the large intestine, Adenocarcinoma of stomach, Multiple myeloma,
Acute myeloid leukemia, Costello syndrome, Neoplasm of uterine cervix,
Lung adenocarcinoma
Likely pathogenic
(May 18, 2018)
criteria provided, multiple submitters, no conflictsVCV000012611
96.
GRCh37:
Chr11:533467
GRCh38:
Chr11:533467
HRAS, LRRC56A146PLung adenocarcinoma, Multiple myeloma, Acute myeloid leukemia,
Adenocarcinoma of stomach, Neoplasm of uterine cervix, Neoplasm of the large intestine
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376442
97.
GRCh37:
Chr11:533467
GRCh38:
Chr11:533467
HRAS, LRRC56A146TNeoplasm of the large intestine, Lung adenocarcinoma, Adenocarcinoma of stomach,
Multiple myeloma, Acute myeloid leukemia, Costello syndrome,
Neoplasm of uterine cervix
Pathogenic/Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000012607
98.
GRCh37:
Chr11:533468
GRCh38:
Chr11:533468
HRAS, LRRC56R39QCostello syndromeLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000462152
99.
GRCh37:
Chr11:533472-533491
GRCh38:
Chr11:533472-533491
HRAS, LRRC56G138fs, A32fsCostello syndromeUncertain significance
(Aug 16, 2019)
criteria provided, single submitterVCV000951790
100.
GRCh37:
Chr11:533476
GRCh38:
Chr11:533476
HRAS, LRRC56E143KCostello syndromeUncertain significance
(Oct 9, 2020)
criteria provided, single submitterVCV001021116
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