IGF2[gene] - ClinVar

VariationLocation	Gene(s)	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 147501.	IGF2, 1926C-G	IGF2	INSULIN-LIKE GROWTH FACTOR II POLYMORPHISM	Benign (Jul 1, 2001)	no assertion criteria provided
Select item 147492.	IGF2, 1156C-T	IGF2	INSULIN-LIKE GROWTH FACTOR II POLYMORPHISM	Benign (Jul 1, 2001)	no assertion criteria provided
Select item 147483.	IGF2, 6815A-T	IGF2	INSULIN-LIKE GROWTH FACTOR II POLYMORPHISM	Benign (Dec 1, 2005)	no assertion criteria provided
Select item 2532984.	NM_000612.5(IGF2):c.157_157+1insGC GRCh37: Chr11:2156596-2156597 GRCh38: Chr11:2135366-2135367	IGF2, INS-IGF2	Russell-Silver syndrome	Pathogenic	no assertion criteria provided
Select item 3730805.	NM_000612.5(IGF2):c.99C>A (p.Cys33Ter) GRCh37: Chr11:2156655 GRCh38: Chr11:2135425	IGF2, INS-IGF2	not provided	Pathogenic (Nov 7, 2016)	criteria provided, single submitter
Select item 3729806.	NM_000612.5(IGF2):c.97T>C (p.Cys33Arg) GRCh37: Chr11:2156657 GRCh38: Chr11:2135427	IGF2, INS-IGF2	not provided	Likely pathogenic (Jun 23, 2016)	criteria provided, single submitter
Select item 2530367.	NM_000612.5(IGF2):c.78C>G (p.Tyr26Ter) GRCh37: Chr11:2156676 GRCh38: Chr11:2135446	IGF2, INS-IGF2	Russell-Silver syndrome, not provided	Pathogenic (Sep 5, 2015)	criteria provided, single submitter
Select item 2044918.	NM_000612.5(IGF2):c.23C>A (p.Ser8Ter) GRCh37: Chr11:2156731 GRCh38: Chr11:2135501	IGF2, INS-IGF2	Growth restriction, severe, with distinctive facies	Pathogenic (Jul 23, 2015)	no assertion criteria provided
Select item 2185089.	NM_001127598.2(IGF2):c.82G>A (p.Gly28Arg) GRCh37: Chr11:2161445 GRCh38: Chr11:2140215	IGF2, INS-IGF2	not specified	Uncertain significance (Jul 22, 2015)	criteria provided, single submitter
Select item 39741010.	GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 GRCh37: Chr11:230615-6644927	AP2A2, APBB1, RHOG, ART1, ASCL2, CARS, CCKBR, CD81, CD151, CDKN1C, TPP1, CNGA4, CTSD, DRD4, DUSP8, HBB, HBD, HBE1, HBG1, HBG2, HPX, HRAS, IGF2, ILK, INS, IRF7, KCNQ1, LSP1, MUC2, MUC5AC, MUC6, NAP1L4, NUP98, SLC22A18, SLC22A18AS, POLR2L, PSMD13, RNH1, MRPL23, RPLP2, RRM1, SCT, SMPD1, TRIM21, STIM1, TAF10, TALDO1, TH, TSPAN4, TNNI2, TNNT3, PHLDA2, ZNF195, RASSF7, IFITM1, DCHS1, BRSK2, TSPAN32, TSSC4, TRIM22, IFITM3, DEAF1, IFITM2, TRIM3, KCNQ1OT1, PKP3, RRP8, SIRT3, OR52A1, ARFIP2, TIMM10B, PGAP2, C11orf21, TRPM5, UBQLN3, IGF2-AS, CEND1, TRIM34, CDHR5, TOLLIP, TRIM68, PIDD1, KCNQ1DN, MMP26, CHRNA10, PNPLA2, PHRF1, SIGIRR, EPS8L2, CHID1, OR51G1, OR51B4, OR51B2, OR52N1, SLC25A22, PGGHG, OR51G2, OR51E2, PTDSS2, MOB2, FAM160A2, TRIM5, SYT8, CAVIN3, OSBPL5, LRRC56, MRGPRE, ART5, TRIM6, OR52E2, OR52J3, OR51L1, OR51A7, OR51S1, OR51F2, OR52R1, OR52M1, OR52K2, OR52W1, OR56A4, OR56A1, OR52B4, C11orf40, OR52I2, OR51E1, UBQLNL, DNHD1, C11orf42, NLRP6, OR56B4, OR52B2, LMNTD2, OR51F1, OR51B5, OR51V1, H19, CRACR2B, TMEM80, ANO9, B4GALNT4, OR52L1, OR52B6, GATD1, MRGPRG, KRTAP5-1, KRTAP5-3, KRTAP5-4, IFITM5, OR56B1, OR52K1, OR52I1, OR51D1, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR52D1, OR52H1, OR52N4, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR56A3, OR56A5, OR51T1, OR51A4, OR51A2, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, LOC692247, INS-IGF2, MUC5B, MIR210HG	See cases	Pathogenic	no assertion criteria provided
Select item 39400711.	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3 GRCh37: Chr11:193187-5291338	AP2A2, RHOG, ART1, ASCL2, CARS, 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, OR51G1, 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, SCGB1C1, NLRP6, LMNTD2, OR51F1, OR51V1, H19, CRACR2B, TMEM80, ANO9, B4GALNT4, GATD1, MRGPRG, KRTAP5-1, KRTAP5-3, KRTAP5-4, IFITM5, OR52K1, OR52I1, OR51D1, OR52A5, OR51T1, OR51A4, OR51A2, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, LOC692247, INS-IGF2, MUC5B, MIR210HG	See cases	Pathogenic	no assertion criteria provided
Select item 15552012.	GRCh38/hg38 11p15.5(chr11:2106943-2565669)x3 GRCh37: Chr11:2128173-2586899 GRCh38: Chr11:2106943-2565669	ASCL2, CD81, IGF2, INS, KCNQ1, TH, TSPAN32, TSSC4, C11orf21, TRPM5, IGF2-AS, MIR483, INS-IGF2, MIR4686, CD81-AS1	See cases	Uncertain significance (Sep 9, 2013)	no assertion criteria provided
Select item 15482313.	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 GRCh37: Chr11:196855-5343104 GRCh38: Chr11:196855-5321874	AP2A2, RHOG, ART1, ASCL2, CARS, 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-AS1, LMNTD2, OR51F1, OR52Z1, OR51V1, H19, CRACR2B, TMEM80, MRGPRG-AS1, ANO9, KRTAP5-AS1, KCNQ1-AS1, B4GALNT4, GATD1, MRGPRG, KRTAP5-1, KRTAP5-3, LCRB, IFITM5, FAM99A, OR52K1, OR52I1, OR51D1, OR52A5, OR51H1, OR51T1, OR51A4, OR51A2, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, MIR483, SNORA52, TSSC2, SNORA54, INS-IGF2, MUC5B, MIR675, FAM99B, MRPL23-AS1, MIR4298, LOC100506082, MIR210HG, MIR4686, MIR4687, PANO1, LOC101927503, LINC01150, CD81-AS1, LOC101927708, MIR6743, MIR7847, MIR6744, PRR33, HOTS, BGLT3, LINC01219, SNORD131, HBB-LCR	See cases	Pathogenic (Aug 13, 2012)	no assertion criteria provided
Select item 15439714.	GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1 GRCh37: Chr11:1126807-3235153 GRCh38: Chr11:1132899-3213923	ASCL2, CARS, CD81, CDKN1C, CTSD, DUSP8, IGF2, INS, KCNQ1, LSP1, MUC5AC, NAP1L4, SLC22A18, SLC22A18AS, MRPL23, TH, TNNI2, TNNT3, PHLDA2, BRSK2, TSPAN32, TSSC4, KCNQ1OT1, C11orf21, TRPM5, IGF2-AS, TOLLIP, KCNQ1DN, MOB2, SYT8, OSBPL5, TOLLIP-AS1, H19, KRTAP5-AS1, KCNQ1-AS1, KRTAP5-1, KRTAP5-3, FAM99A, IFITM10, KRTAP5-5, KRTAP5-2, KRTAP5-6, MIR483, SNORA54, INS-IGF2, MUC5B, MIR675, FAM99B, MRPL23-AS1, MIR4298, MIR4686, LINC01150, CD81-AS1, MIR7847, MIR6744, PRR33, HOTS, LINC01219, SNORD131	See cases	Pathogenic (Aug 19, 2010)	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, MIR483, INS-IGF2	See cases	Uncertain significance (Jan 25, 2013)	no assertion criteria provided
Select item 15126316.	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 GRCh37: Chr11:61793-10749516 GRCh38: Chr11:61793-10727969	ADM, AP2A2, AMPD3, APBB1, RHOG, ART1, ASCL2, CARS, 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, ST5, STIM1, TAF10, TALDO1, TH, TSPAN4, TNNI2, TNNT3, PHLDA2, TUB, WEE1, ZNF143, ZNF195, ZNF214, ZNF215, RASSF7, PPFIBP2, IFITM1, OR6A2, DCHS1, EIF3F, BRSK2, TRIM66, TSPAN32, TSSC4, MRVI1, 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, FAM160A2, 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-AS1, OR52B2, LMNTD2, OR51F1, OR51B5, SBF2-AS1, OR52Z1, 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, LCRB, IFITM5, FAM99A, OR56B1, GVINP1, OR52K1, OR52I1, OR51D1, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR52D1, OR52H1, OR52N4, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR56A3, OR56A5, OR10A6, OR51H1, OR51T1, OR51A4, OR51A2, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, TMEM41B, LOC440028, TMEM9B-AS1, MIR483, SNORA3A, SNORA52, LOC644656, TSSC2, SNORA23, SNORA3B, SNORA54, INS-IGF2, MUC5B, MIR675, MRVI1-AS1, CAND1.11, FAM99B, LINC01001, MRPL23-AS1, TRL-CAA5-1, MIR302E, MIR4298, MTRNR2L8, LOC100506082, MIR210HG, LOC100506258, MIR4686, MIR4485, MIR4687, MIR5691, PANO1, LOC101927503, LINC01150, CD81-AS1, LOC101927708, TUB-AS1, LOC101928008, MIR6743, MIR7847, MIR6744, PRR33, LOC102724784, HOTS, BGLT3, CASC23, LINC01219, SNORD131, HBB-LCR	See cases	Pathogenic (Apr 30, 2011)	no assertion criteria provided
Select item 14833117.	GRCh38/hg38 11p15.5(chr11:2149352-2467542)x3 GRCh37: Chr11:2170582-2488772 GRCh38: Chr11:2149352-2467542	ASCL2, CD81, IGF2, INS, KCNQ1, TH, TSPAN32, TSSC4, C11orf21, TRPM5, INS-IGF2, MIR4686, CD81-AS1	See cases	Uncertain significance (Feb 8, 2011)	no assertion criteria provided
Select item 14807318.	GRCh38/hg38 11p15.5(chr11:2052381-2138446)x3 GRCh37: Chr11:2073611-2159676 GRCh38: Chr11:2052381-2138446	IGF2, MIR483, INS-IGF2	See cases	Uncertain significance (Dec 22, 2010)	no assertion criteria provided
Select item 14796419.	GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1 GRCh37: Chr11:1996741-3645369 GRCh38: Chr11:1975511-3624139	ASCL2, CARS, CD81, CDKN1C, IGF2, INS, KCNQ1, NAP1L4, SLC22A18, SLC22A18AS, MRPL23, TH, PHLDA2, ZNF195, TSPAN32, TSSC4, KCNQ1OT1, C11orf21, TRPM5, IGF2-AS, KCNQ1DN, OSBPL5, MRGPRE, H19, MRGPRG-AS1, KCNQ1-AS1, MRGPRG, MIR483, TSSC2, SNORA54, INS-IGF2, MIR675, MRPL23-AS1, MIR4686, CD81-AS1, LOC101927708, HOTS, LINC01219	See cases	Uncertain significance (Dec 22, 2010)	no assertion criteria provided
Select item 14790420.	GRCh38/hg38 11p15.5(chr11:1975511-2138446)x3 GRCh37: Chr11:1996741-2159676 GRCh38: Chr11:1975511-2138446	IGF2, MRPL23, H19, MIR483, INS-IGF2, MIR675, MRPL23-AS1, HOTS, LINC01219	See cases	Benign (Oct 19, 2010)	no assertion criteria provided
Select item 14768921.	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3 GRCh37: Chr11:1558609-3381999 GRCh38: Chr11:1537379-3360769	ASCL2, CARS, CD81, CDKN1C, CTSD, DUSP8, IGF2, INS, KCNQ1, LSP1, NAP1L4, SLC22A18, SLC22A18AS, MRPL23, TH, TNNI2, TNNT3, PHLDA2, ZNF195, TSPAN32, TSSC4, KCNQ1OT1, C11orf21, TRPM5, IGF2-AS, KCNQ1DN, SYT8, OSBPL5, MRGPRE, H19, MRGPRG-AS1, KRTAP5-AS1, KCNQ1-AS1, MRGPRG, KRTAP5-1, KRTAP5-3, FAM99A, IFITM10, KRTAP5-5, KRTAP5-2, KRTAP5-6, MIR483, SNORA54, INS-IGF2, MIR675, FAM99B, MRPL23-AS1, MIR4298, MIR4686, LINC01150, CD81-AS1, MIR7847, PRR33, HOTS, LINC01219, SNORD131	See cases	Pathogenic (Oct 14, 2010)	no assertion criteria provided
Select item 14687622.	GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3 GRCh37: Chr11:1996741-2909925 GRCh38: Chr11:1975511-2888695	ASCL2, CD81, CDKN1C, IGF2, INS, KCNQ1, SLC22A18AS, MRPL23, TH, TSPAN32, TSSC4, KCNQ1OT1, C11orf21, TRPM5, IGF2-AS, KCNQ1DN, H19, KCNQ1-AS1, MIR483, INS-IGF2, MIR675, MRPL23-AS1, MIR4686, CD81-AS1, HOTS, LINC01219	See cases	Pathogenic (Jun 10, 2010)	no assertion criteria provided
Select item 14451523.	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 GRCh37: Chr11:446754-18926289 GRCh38: Chr11:446754-18904742	ADM, AP2A2, AMPD3, APBB1, RHOG, ARNTL, ART1, ASCL2, CALCA, CALCB, CARS, 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, ST5, STIM1, ABCC8, TAF10, TALDO1, TEAD1, TH, TSPAN4, TNNI2, TNNT3, TPH1, TSG101, PHLDA2, TUB, WEE1, ZNF143, ZNF195, ZNF214, ZNF215, RASSF7, PPFIBP2, OR6A2, DCHS1, EIF3F, BRSK2, MICAL2, CTR9, TRIM66, TSPAN32, TSSC4, USH1C, MRVI1, 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, 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, FAM160A2, 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-AS1, OR52B2, LMNTD2, OR51F1, OR51B5, SBF2-AS1, CSNK2A3, OR52Z1, 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, LCRB, FAM99A, OR56B1, GVINP1, INSC, OR52K1, OR52I1, OR51D1, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR52D1, OR52H1, OR52N4, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR56A3, OR56A5, OR10A6, OR51H1, OR51T1, OR51A4, OR51A2, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, TMEM41B, LOC440028, TMEM9B-AS1, MIR483, SNORA3A, SNORA52, LOC644656, RASSF10, TSSC2, SNORA23, SNORA3B, SNORA54, SNORD97, INS-IGF2, MUC5B, ZBED5-AS1, MIR675, MRVI1-AS1, CAND1.11, FAM99B, MRPL23-AS1, TRL-CAA5-1, MIR302E, MIR3159, MIR4298, MIR4299, MTRNR2L8, LOC100506082, MIR210HG, LOC100506258, LINC00958, SPTY2D1-AS1, SAA2-SAA4, MIR4686, MIR4485, MIR4687, MIR5691, PANO1, LOC101927503, LINC01150, CD81-AS1, LOC101927708, TUB-AS1, LOC101928008, LOC101928053, LOC101928132, MIR6073, MIR8070, MIR7847, MIR6744, MIR6124, LOC102723330, PRR33, LOC102724784, LOC102724957, HOTS, BGLT3, CASC23, LINC01219, LOC105376554, LOC105376575, SNORD131, HBB-LCR	See cases	Pathogenic (Apr 30, 2010)	no assertion criteria provided
Select item 5974824.	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 GRCh37: Chr11:218365-3398307 GRCh38: Chr11:218365-3377077	AP2A2, ASCL2, CARS, CD81, CD151, CDKN1C, CTSD, DRD4, DUSP8, HRAS, IGF2, INS, IRF7, KCNQ1, LSP1, MUC2, MUC5AC, MUC6, NAP1L4, SLC22A18, SLC22A18AS, POLR2L, PSMD13, RNH1, MRPL23, RPLP2, SCT, TALDO1, TH, TSPAN4, TNNI2, TNNT3, PHLDA2, ZNF195, RASSF7, IFITM1, BRSK2, TSPAN32, TSSC4, IFITM3, DEAF1, IFITM2, KCNQ1OT1, PKP3, SIRT3, C11orf21, TRPM5, IGF2-AS, CEND1, CDHR5, TOLLIP, PIDD1, KCNQ1DN, PNPLA2, PHRF1, SIGIRR, EPS8L2, CHID1, SLC25A22, PGGHG, PTDSS2, MOB2, SYT8, OSBPL5, LRRC56, MRGPRE, LOC143666, NLRP6, LOC171391, TOLLIP-AS1, LMNTD2, H19, CRACR2B, TMEM80, MRGPRG-AS1, ANO9, KRTAP5-AS1, KCNQ1-AS1, B4GALNT4, GATD1, MRGPRG, KRTAP5-1, KRTAP5-3, IFITM5, FAM99A, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, MIR483, SNORA52, SNORA54, INS-IGF2, MUC5B, MIR675, FAM99B, MRPL23-AS1, MIR4298, MIR210HG, MIR4686, PANO1, LOC101927503, LINC01150, CD81-AS1, MIR7847, MIR6744, PRR33, HOTS, LINC01219, SNORD131	See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5974725.	GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 GRCh37: Chr11:202758-31747772 GRCh38: Chr11:202758-31726224	ADM, AP2A2, AMPD3, APBB1, RHOG, ARNTL, ART1, ASCL2, BDNF, MPPED2, CALCA, CALCB, CARS, CCKBR, CD81, CD151, CDKN1C, TPP1, CNGA4, COPB1, CTSD, DRD4, DUSP8, EIF4G2, FANCF, FSHB, GAS2, GTF2H1, HBB, HBD, HBE1, HBG1, HBG2, HPX, HRAS, HSP90AA2P, 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, ST5, 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, MRVI1, 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, FAM160A2, 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-AS1, OR52B2, LMNTD2, OR51F1, SVIP, MRGPRX1, OR51B5, SBF2-AS1, CSNK2A3, OR52Z1, 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, LCRB, IFITM5, FAM99A, OR56B1, GVINP1, INSC, FIBIN, OR52K1, OR52I1, OR51D1, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR52D1, OR52H1, OR52N4, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR56A3, OR56A5, OR10A6, NAV2-AS4, OR51H1, OR51T1, OR51A4, OR51A2, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, TMEM41B, LOC440028, TMEM9B-AS1, BDNF-AS, MIR483, SNORA3A, SNORA52, LOC644656, RASSF10, TSSC2, SNORA23, SNORA3B, SNORA54, SNORD97, MIR610, INS-IGF2, MUC5B, ZBED5-AS1, MIR675, LOC100126784, MRVI1-AS1, CAND1.11, FAM99B, MRPL23-AS1, TRL-CAA5-1, MIR302E, MIR3159, MIR4298, MIR4299, MTRNR2L8, CCDC179, LOC100506082, MIR210HG, LOC100506258, LINC00958, SPTY2D1-AS1, SAA2-SAA4, MIR4486, MIR4686, MIR4485, MIR4694, MIR4687, MIR5691, NAV2-AS5, NAV2-AS2, LINC00678, PANO1, LOC101927503, LINC01150, CD81-AS1, LOC101927708, TUB-AS1, LOC101928008, LOC101928053, LOC101928132, MIR6073, MIR6743, MIR8054, MIR8070, MIR8087, MIR7847, MIR6744, MIR8068, MIR6124, LOC102723330, LINC01495, PRR33, LOC102724784, LOC102724957, HOTS, BGLT3, CASC23, BBOX1-AS1, LINC01219, LOC105376554, LOC105376575, LOC105376599, LOC105376671, LINC01616, SNORD131, HBB-LCR	See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5973126.	GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3 GRCh37: Chr11:196966-3645369 GRCh38: Chr11:196966-3624139	AP2A2, ASCL2, CARS, CD81, CD151, CDKN1C, CTSD, DRD4, DUSP8, HRAS, IGF2, INS, IRF7, KCNQ1, LSP1, MUC2, MUC5AC, MUC6, NAP1L4, SLC22A18, SLC22A18AS, POLR2L, PSMD13, RNH1, MRPL23, RPLP2, SCT, TALDO1, TH, TSPAN4, TNNI2, TNNT3, PHLDA2, ZNF195, RASSF7, IFITM1, BRSK2, TSPAN32, TSSC4, IFITM3, DEAF1, IFITM2, KCNQ1OT1, PKP3, SIRT3, C11orf21, TRPM5, IGF2-AS, BET1L, CEND1, CDHR5, TOLLIP, PIDD1, KCNQ1DN, PNPLA2, PHRF1, SIGIRR, RIC8A, EPS8L2, CHID1, SLC25A22, PGGHG, PTDSS2, MOB2, SYT8, ODF3, OSBPL5, LRRC56, MRGPRE, LOC143666, NLRP6, LOC171391, TOLLIP-AS1, LMNTD2, H19, CRACR2B, TMEM80, MRGPRG-AS1, ANO9, KRTAP5-AS1, KCNQ1-AS1, B4GALNT4, GATD1, MRGPRG, KRTAP5-1, KRTAP5-3, IFITM5, FAM99A, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, MIR483, SNORA52, TSSC2, SNORA54, INS-IGF2, MUC5B, MIR675, FAM99B, MRPL23-AS1, MIR4298, MIR210HG, MIR4686, PANO1, LOC101927503, LINC01150, CD81-AS1, LOC101927708, MIR6743, MIR7847, MIR6744, PRR33, HOTS, LINC01219, SNORD131	See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5727427.	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 GRCh37: Chr11:196966-3398307 GRCh38: Chr11:196966-3377077	AP2A2, ASCL2, CARS, CD81, CD151, CDKN1C, CTSD, DRD4, DUSP8, HRAS, IGF2, INS, IRF7, KCNQ1, LSP1, MUC2, MUC5AC, MUC6, NAP1L4, SLC22A18, SLC22A18AS, POLR2L, PSMD13, RNH1, MRPL23, RPLP2, SCT, TALDO1, TH, TSPAN4, TNNI2, TNNT3, PHLDA2, ZNF195, RASSF7, IFITM1, BRSK2, TSPAN32, TSSC4, IFITM3, DEAF1, IFITM2, KCNQ1OT1, PKP3, SIRT3, C11orf21, TRPM5, IGF2-AS, BET1L, CEND1, CDHR5, TOLLIP, PIDD1, KCNQ1DN, PNPLA2, PHRF1, SIGIRR, RIC8A, EPS8L2, CHID1, SLC25A22, PGGHG, PTDSS2, MOB2, SYT8, ODF3, OSBPL5, LRRC56, MRGPRE, LOC143666, NLRP6, LOC171391, TOLLIP-AS1, LMNTD2, H19, CRACR2B, TMEM80, MRGPRG-AS1, ANO9, KRTAP5-AS1, KCNQ1-AS1, B4GALNT4, GATD1, MRGPRG, KRTAP5-1, KRTAP5-3, IFITM5, FAM99A, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, MIR483, SNORA52, SNORA54, INS-IGF2, MUC5B, MIR675, FAM99B, MRPL23-AS1, MIR4298, MIR210HG, MIR4686, PANO1, LOC101927503, LINC01150, CD81-AS1, MIR6743, MIR7847, MIR6744, PRR33, HOTS, LINC01219, SNORD131	See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5725828.	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 GRCh37: Chr11:196966-4456574 GRCh38: Chr11:196966-4435344	AP2A2, RHOG, ART1, ASCL2, CARS, CD81, CD151, CDKN1C, CTSD, DRD4, DUSP8, 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, PGAP2, C11orf21, TRPM5, IGF2-AS, BET1L, CEND1, CDHR5, TOLLIP, PIDD1, KCNQ1DN, CHRNA10, PNPLA2, PHRF1, SIGIRR, RIC8A, EPS8L2, CHID1, SLC25A22, PGGHG, PTDSS2, MOB2, SYT8, ODF3, OSBPL5, LRRC56, MRGPRE, ART5, OR52B4, LOC143666, NLRP6, LOC171391, TOLLIP-AS1, LMNTD2, H19, CRACR2B, TMEM80, MRGPRG-AS1, ANO9, KRTAP5-AS1, KCNQ1-AS1, B4GALNT4, GATD1, MRGPRG, KRTAP5-1, KRTAP5-3, IFITM5, FAM99A, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, MIR483, SNORA52, TSSC2, SNORA54, INS-IGF2, MUC5B, MIR675, FAM99B, MRPL23-AS1, MIR4298, LOC100506082, MIR210HG, MIR4686, MIR4687, PANO1, LOC101927503, LINC01150, CD81-AS1, LOC101927708, MIR6743, MIR7847, MIR6744, PRR33, HOTS, LINC01219, SNORD131	See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter

Select item 147501.

IGF2, 1926C-G

IGF2

INSULIN-LIKE GROWTH FACTOR II POLYMORPHISM

Benign
(Jul 1, 2001)

no assertion criteria provided

Select item 147492.

IGF2, 1156C-T

IGF2

INSULIN-LIKE GROWTH FACTOR II POLYMORPHISM

Benign
(Jul 1, 2001)

no assertion criteria provided

Select item 147483.

IGF2, 6815A-T

IGF2

INSULIN-LIKE GROWTH FACTOR II POLYMORPHISM

Benign
(Dec 1, 2005)

no assertion criteria provided

Select item 2532984.

NM_000612.5(IGF2):c.157_157+1insGC

GRCh37:: Chr11:2156596-2156597
GRCh38:: Chr11:2135366-2135367

IGF2, INS-IGF2

Russell-Silver syndrome

Pathogenic

no assertion criteria provided

Select item 3730805.

NM_000612.5(IGF2):c.99C>A (p.Cys33Ter)

GRCh37:: Chr11:2156655
GRCh38:: Chr11:2135425

IGF2, INS-IGF2

not provided

Pathogenic
(Nov 7, 2016)

criteria provided, single submitter

Select item 3729806.

NM_000612.5(IGF2):c.97T>C (p.Cys33Arg)

GRCh37:: Chr11:2156657
GRCh38:: Chr11:2135427

IGF2, INS-IGF2

not provided

Likely pathogenic
(Jun 23, 2016)

criteria provided, single submitter

Select item 2530367.

NM_000612.5(IGF2):c.78C>G (p.Tyr26Ter)

GRCh37:: Chr11:2156676
GRCh38:: Chr11:2135446

IGF2, INS-IGF2

Russell-Silver syndrome, not provided

Pathogenic
(Sep 5, 2015)

criteria provided, single submitter

Select item 2044918.

NM_000612.5(IGF2):c.23C>A (p.Ser8Ter)

GRCh37:: Chr11:2156731
GRCh38:: Chr11:2135501

IGF2, INS-IGF2

Growth restriction, severe, with distinctive facies

Pathogenic
(Jul 23, 2015)

no assertion criteria provided

Select item 2185089.

NM_001127598.2(IGF2):c.82G>A (p.Gly28Arg)

GRCh37:: Chr11:2161445
GRCh38:: Chr11:2140215

IGF2, INS-IGF2

not specified

Uncertain significance
(Jul 22, 2015)

criteria provided, single submitter

Select item 39741010.

GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3

GRCh37:: Chr11:230615-6644927

AP2A2, APBB1, RHOG, ART1, ASCL2, CARS, CCKBR, CD81, CD151, CDKN1C, TPP1, CNGA4, CTSD, DRD4, DUSP8, HBB, HBD, HBE1, HBG1, HBG2, HPX, HRAS, IGF2, ILK, INS, IRF7, KCNQ1, LSP1, MUC2, MUC5AC, MUC6, NAP1L4, NUP98, SLC22A18, SLC22A18AS, POLR2L, PSMD13, RNH1, MRPL23, RPLP2, RRM1, SCT, SMPD1, TRIM21, STIM1, TAF10, TALDO1, TH, TSPAN4, TNNI2, TNNT3, PHLDA2, ZNF195, RASSF7, IFITM1, DCHS1, BRSK2, TSPAN32, TSSC4, TRIM22, IFITM3, DEAF1, IFITM2, TRIM3, KCNQ1OT1, PKP3, RRP8, SIRT3, OR52A1, ARFIP2, TIMM10B, PGAP2, C11orf21, TRPM5, UBQLN3, IGF2-AS, CEND1, TRIM34, CDHR5, TOLLIP, TRIM68, PIDD1, KCNQ1DN, MMP26, CHRNA10, PNPLA2, PHRF1, SIGIRR, EPS8L2, CHID1, OR51G1, OR51B4, OR51B2, OR52N1, SLC25A22, PGGHG, OR51G2, OR51E2, PTDSS2, MOB2, FAM160A2, TRIM5, SYT8, CAVIN3, OSBPL5, LRRC56, MRGPRE, ART5, TRIM6, OR52E2, OR52J3, OR51L1, OR51A7, OR51S1, OR51F2, OR52R1, OR52M1, OR52K2, OR52W1, OR56A4, OR56A1, OR52B4, C11orf40, OR52I2, OR51E1, UBQLNL, DNHD1, C11orf42, NLRP6, OR56B4, OR52B2, LMNTD2, OR51F1, OR51B5, OR51V1, H19, CRACR2B, TMEM80, ANO9, B4GALNT4, OR52L1, OR52B6, GATD1, MRGPRG, KRTAP5-1, KRTAP5-3, KRTAP5-4, IFITM5, OR56B1, OR52K1, OR52I1, OR51D1, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR52D1, OR52H1, OR52N4, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR56A3, OR56A5, OR51T1, OR51A4, OR51A2, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, LOC692247, INS-IGF2, MUC5B, MIR210HG

See cases

Pathogenic

no assertion criteria provided

Select item 39400711.

GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3

GRCh37:: Chr11:193187-5291338

AP2A2, RHOG, ART1, ASCL2, CARS, 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, OR51G1, 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, SCGB1C1, NLRP6, LMNTD2, OR51F1, OR51V1, H19, CRACR2B, TMEM80, ANO9, B4GALNT4, GATD1, MRGPRG, KRTAP5-1, KRTAP5-3, KRTAP5-4, IFITM5, OR52K1, OR52I1, OR51D1, OR52A5, OR51T1, OR51A4, OR51A2, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, LOC692247, INS-IGF2, MUC5B, MIR210HG

See cases

Pathogenic

no assertion criteria provided

Select item 15552012.

GRCh38/hg38 11p15.5(chr11:2106943-2565669)x3

GRCh37:: Chr11:2128173-2586899
GRCh38:: Chr11:2106943-2565669

ASCL2, CD81, IGF2, INS, KCNQ1, TH, TSPAN32, TSSC4, C11orf21, TRPM5, IGF2-AS, MIR483, INS-IGF2, MIR4686, CD81-AS1

See cases

Uncertain significance
(Sep 9, 2013)

no assertion criteria provided

Select item 15482313.

GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3

GRCh37:: Chr11:196855-5343104
GRCh38:: Chr11:196855-5321874

AP2A2, RHOG, ART1, ASCL2, CARS, 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-AS1, LMNTD2, OR51F1, OR52Z1, OR51V1, H19, CRACR2B, TMEM80, MRGPRG-AS1, ANO9, KRTAP5-AS1, KCNQ1-AS1, B4GALNT4, GATD1, MRGPRG, KRTAP5-1, KRTAP5-3, LCRB, IFITM5, FAM99A, OR52K1, OR52I1, OR51D1, OR52A5, OR51H1, OR51T1, OR51A4, OR51A2, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, MIR483, SNORA52, TSSC2, SNORA54, INS-IGF2, MUC5B, MIR675, FAM99B, MRPL23-AS1, MIR4298, LOC100506082, MIR210HG, MIR4686, MIR4687, PANO1, LOC101927503, LINC01150, CD81-AS1, LOC101927708, MIR6743, MIR7847, MIR6744, PRR33, HOTS, BGLT3, LINC01219, SNORD131, HBB-LCR

See cases

Pathogenic
(Aug 13, 2012)

no assertion criteria provided

Select item 15439714.

GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1

GRCh37:: Chr11:1126807-3235153
GRCh38:: Chr11:1132899-3213923

ASCL2, CARS, CD81, CDKN1C, CTSD, DUSP8, IGF2, INS, KCNQ1, LSP1, MUC5AC, NAP1L4, SLC22A18, SLC22A18AS, MRPL23, TH, TNNI2, TNNT3, PHLDA2, BRSK2, TSPAN32, TSSC4, KCNQ1OT1, C11orf21, TRPM5, IGF2-AS, TOLLIP, KCNQ1DN, MOB2, SYT8, OSBPL5, TOLLIP-AS1, H19, KRTAP5-AS1, KCNQ1-AS1, KRTAP5-1, KRTAP5-3, FAM99A, IFITM10, KRTAP5-5, KRTAP5-2, KRTAP5-6, MIR483, SNORA54, INS-IGF2, MUC5B, MIR675, FAM99B, MRPL23-AS1, MIR4298, MIR4686, LINC01150, CD81-AS1, MIR7847, MIR6744, PRR33, HOTS, LINC01219, SNORD131

See cases

Pathogenic
(Aug 19, 2010)

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, MIR483, INS-IGF2

See cases

Uncertain significance
(Jan 25, 2013)

no assertion criteria provided

Select item 15126316.

GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3

GRCh37:: Chr11:61793-10749516
GRCh38:: Chr11:61793-10727969

ADM, AP2A2, AMPD3, APBB1, RHOG, ART1, ASCL2, CARS, 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, ST5, STIM1, TAF10, TALDO1, TH, TSPAN4, TNNI2, TNNT3, PHLDA2, TUB, WEE1, ZNF143, ZNF195, ZNF214, ZNF215, RASSF7, PPFIBP2, IFITM1, OR6A2, DCHS1, EIF3F, BRSK2, TRIM66, TSPAN32, TSSC4, MRVI1, 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, FAM160A2, 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-AS1, OR52B2, LMNTD2, OR51F1, OR51B5, SBF2-AS1, OR52Z1, 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, LCRB, IFITM5, FAM99A, OR56B1, GVINP1, OR52K1, OR52I1, OR51D1, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR52D1, OR52H1, OR52N4, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR56A3, OR56A5, OR10A6, OR51H1, OR51T1, OR51A4, OR51A2, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, TMEM41B, LOC440028, TMEM9B-AS1, MIR483, SNORA3A, SNORA52, LOC644656, TSSC2, SNORA23, SNORA3B, SNORA54, INS-IGF2, MUC5B, MIR675, MRVI1-AS1, CAND1.11, FAM99B, LINC01001, MRPL23-AS1, TRL-CAA5-1, MIR302E, MIR4298, MTRNR2L8, LOC100506082, MIR210HG, LOC100506258, MIR4686, MIR4485, MIR4687, MIR5691, PANO1, LOC101927503, LINC01150, CD81-AS1, LOC101927708, TUB-AS1, LOC101928008, MIR6743, MIR7847, MIR6744, PRR33, LOC102724784, HOTS, BGLT3, CASC23, LINC01219, SNORD131, HBB-LCR

See cases

Pathogenic
(Apr 30, 2011)

no assertion criteria provided

Select item 14833117.

GRCh38/hg38 11p15.5(chr11:2149352-2467542)x3

GRCh37:: Chr11:2170582-2488772
GRCh38:: Chr11:2149352-2467542

ASCL2, CD81, IGF2, INS, KCNQ1, TH, TSPAN32, TSSC4, C11orf21, TRPM5, INS-IGF2, MIR4686, CD81-AS1

See cases

Uncertain significance
(Feb 8, 2011)

no assertion criteria provided

Select item 14807318.

GRCh38/hg38 11p15.5(chr11:2052381-2138446)x3

GRCh37:: Chr11:2073611-2159676
GRCh38:: Chr11:2052381-2138446

IGF2, MIR483, INS-IGF2

See cases

Uncertain significance
(Dec 22, 2010)

no assertion criteria provided

Select item 14796419.

GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1

GRCh37:: Chr11:1996741-3645369
GRCh38:: Chr11:1975511-3624139

ASCL2, CARS, CD81, CDKN1C, IGF2, INS, KCNQ1, NAP1L4, SLC22A18, SLC22A18AS, MRPL23, TH, PHLDA2, ZNF195, TSPAN32, TSSC4, KCNQ1OT1, C11orf21, TRPM5, IGF2-AS, KCNQ1DN, OSBPL5, MRGPRE, H19, MRGPRG-AS1, KCNQ1-AS1, MRGPRG, MIR483, TSSC2, SNORA54, INS-IGF2, MIR675, MRPL23-AS1, MIR4686, CD81-AS1, LOC101927708, HOTS, LINC01219

See cases

Uncertain significance
(Dec 22, 2010)

no assertion criteria provided

Select item 14790420.

GRCh38/hg38 11p15.5(chr11:1975511-2138446)x3

GRCh37:: Chr11:1996741-2159676
GRCh38:: Chr11:1975511-2138446

IGF2, MRPL23, H19, MIR483, INS-IGF2, MIR675, MRPL23-AS1, HOTS, LINC01219

See cases

Benign
(Oct 19, 2010)

no assertion criteria provided

Select item 14768921.

GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3

GRCh37:: Chr11:1558609-3381999
GRCh38:: Chr11:1537379-3360769

ASCL2, CARS, CD81, CDKN1C, CTSD, DUSP8, IGF2, INS, KCNQ1, LSP1, NAP1L4, SLC22A18, SLC22A18AS, MRPL23, TH, TNNI2, TNNT3, PHLDA2, ZNF195, TSPAN32, TSSC4, KCNQ1OT1, C11orf21, TRPM5, IGF2-AS, KCNQ1DN, SYT8, OSBPL5, MRGPRE, H19, MRGPRG-AS1, KRTAP5-AS1, KCNQ1-AS1, MRGPRG, KRTAP5-1, KRTAP5-3, FAM99A, IFITM10, KRTAP5-5, KRTAP5-2, KRTAP5-6, MIR483, SNORA54, INS-IGF2, MIR675, FAM99B, MRPL23-AS1, MIR4298, MIR4686, LINC01150, CD81-AS1, MIR7847, PRR33, HOTS, LINC01219, SNORD131

See cases

Pathogenic
(Oct 14, 2010)

no assertion criteria provided

Select item 14687622.

GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3

GRCh37:: Chr11:1996741-2909925
GRCh38:: Chr11:1975511-2888695

ASCL2, CD81, CDKN1C, IGF2, INS, KCNQ1, SLC22A18AS, MRPL23, TH, TSPAN32, TSSC4, KCNQ1OT1, C11orf21, TRPM5, IGF2-AS, KCNQ1DN, H19, KCNQ1-AS1, MIR483, INS-IGF2, MIR675, MRPL23-AS1, MIR4686, CD81-AS1, HOTS, LINC01219

See cases

Pathogenic
(Jun 10, 2010)

no assertion criteria provided

Select item 14451523.

GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3

GRCh37:: Chr11:446754-18926289
GRCh38:: Chr11:446754-18904742

ADM, AP2A2, AMPD3, APBB1, RHOG, ARNTL, ART1, ASCL2, CALCA, CALCB, CARS, 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, ST5, STIM1, ABCC8, TAF10, TALDO1, TEAD1, TH, TSPAN4, TNNI2, TNNT3, TPH1, TSG101, PHLDA2, TUB, WEE1, ZNF143, ZNF195, ZNF214, ZNF215, RASSF7, PPFIBP2, OR6A2, DCHS1, EIF3F, BRSK2, MICAL2, CTR9, TRIM66, TSPAN32, TSSC4, USH1C, MRVI1, 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, 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, FAM160A2, 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-AS1, OR52B2, LMNTD2, OR51F1, OR51B5, SBF2-AS1, CSNK2A3, OR52Z1, 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, LCRB, FAM99A, OR56B1, GVINP1, INSC, OR52K1, OR52I1, OR51D1, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR52D1, OR52H1, OR52N4, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR56A3, OR56A5, OR10A6, OR51H1, OR51T1, OR51A4, OR51A2, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, TMEM41B, LOC440028, TMEM9B-AS1, MIR483, SNORA3A, SNORA52, LOC644656, RASSF10, TSSC2, SNORA23, SNORA3B, SNORA54, SNORD97, INS-IGF2, MUC5B, ZBED5-AS1, MIR675, MRVI1-AS1, CAND1.11, FAM99B, MRPL23-AS1, TRL-CAA5-1, MIR302E, MIR3159, MIR4298, MIR4299, MTRNR2L8, LOC100506082, MIR210HG, LOC100506258, LINC00958, SPTY2D1-AS1, SAA2-SAA4, MIR4686, MIR4485, MIR4687, MIR5691, PANO1, LOC101927503, LINC01150, CD81-AS1, LOC101927708, TUB-AS1, LOC101928008, LOC101928053, LOC101928132, MIR6073, MIR8070, MIR7847, MIR6744, MIR6124, LOC102723330, PRR33, LOC102724784, LOC102724957, HOTS, BGLT3, CASC23, LINC01219, LOC105376554, LOC105376575, SNORD131, HBB-LCR

See cases

Pathogenic
(Apr 30, 2010)

no assertion criteria provided

Select item 5974824.

GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3

GRCh37:: Chr11:218365-3398307
GRCh38:: Chr11:218365-3377077

AP2A2, ASCL2, CARS, CD81, CD151, CDKN1C, CTSD, DRD4, DUSP8, HRAS, IGF2, INS, IRF7, KCNQ1, LSP1, MUC2, MUC5AC, MUC6, NAP1L4, SLC22A18, SLC22A18AS, POLR2L, PSMD13, RNH1, MRPL23, RPLP2, SCT, TALDO1, TH, TSPAN4, TNNI2, TNNT3, PHLDA2, ZNF195, RASSF7, IFITM1, BRSK2, TSPAN32, TSSC4, IFITM3, DEAF1, IFITM2, KCNQ1OT1, PKP3, SIRT3, C11orf21, TRPM5, IGF2-AS, CEND1, CDHR5, TOLLIP, PIDD1, KCNQ1DN, PNPLA2, PHRF1, SIGIRR, EPS8L2, CHID1, SLC25A22, PGGHG, PTDSS2, MOB2, SYT8, OSBPL5, LRRC56, MRGPRE, LOC143666, NLRP6, LOC171391, TOLLIP-AS1, LMNTD2, H19, CRACR2B, TMEM80, MRGPRG-AS1, ANO9, KRTAP5-AS1, KCNQ1-AS1, B4GALNT4, GATD1, MRGPRG, KRTAP5-1, KRTAP5-3, IFITM5, FAM99A, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, MIR483, SNORA52, SNORA54, INS-IGF2, MUC5B, MIR675, FAM99B, MRPL23-AS1, MIR4298, MIR210HG, MIR4686, PANO1, LOC101927503, LINC01150, CD81-AS1, MIR7847, MIR6744, PRR33, HOTS, LINC01219, SNORD131

See cases

Pathogenic
(Aug 12, 2011)

criteria provided, single submitter

Select item 5974725.

GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3

GRCh37:: Chr11:202758-31747772
GRCh38:: Chr11:202758-31726224

ADM, AP2A2, AMPD3, APBB1, RHOG, ARNTL, ART1, ASCL2, BDNF, MPPED2, CALCA, CALCB, CARS, CCKBR, CD81, CD151, CDKN1C, TPP1, CNGA4, COPB1, CTSD, DRD4, DUSP8, EIF4G2, FANCF, FSHB, GAS2, GTF2H1, HBB, HBD, HBE1, HBG1, HBG2, HPX, HRAS, HSP90AA2P, 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, ST5, 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, MRVI1, 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, FAM160A2, 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-AS1, OR52B2, LMNTD2, OR51F1, SVIP, MRGPRX1, OR51B5, SBF2-AS1, CSNK2A3, OR52Z1, 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, LCRB, IFITM5, FAM99A, OR56B1, GVINP1, INSC, FIBIN, OR52K1, OR52I1, OR51D1, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR52D1, OR52H1, OR52N4, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR56A3, OR56A5, OR10A6, NAV2-AS4, OR51H1, OR51T1, OR51A4, OR51A2, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, TMEM41B, LOC440028, TMEM9B-AS1, BDNF-AS, MIR483, SNORA3A, SNORA52, LOC644656, RASSF10, TSSC2, SNORA23, SNORA3B, SNORA54, SNORD97, MIR610, INS-IGF2, MUC5B, ZBED5-AS1, MIR675, LOC100126784, MRVI1-AS1, CAND1.11, FAM99B, MRPL23-AS1, TRL-CAA5-1, MIR302E, MIR3159, MIR4298, MIR4299, MTRNR2L8, CCDC179, LOC100506082, MIR210HG, LOC100506258, LINC00958, SPTY2D1-AS1, SAA2-SAA4, MIR4486, MIR4686, MIR4485, MIR4694, MIR4687, MIR5691, NAV2-AS5, NAV2-AS2, LINC00678, PANO1, LOC101927503, LINC01150, CD81-AS1, LOC101927708, TUB-AS1, LOC101928008, LOC101928053, LOC101928132, MIR6073, MIR6743, MIR8054, MIR8070, MIR8087, MIR7847, MIR6744, MIR8068, MIR6124, LOC102723330, LINC01495, PRR33, LOC102724784, LOC102724957, HOTS, BGLT3, CASC23, BBOX1-AS1, LINC01219, LOC105376554, LOC105376575, LOC105376599, LOC105376671, LINC01616, SNORD131, HBB-LCR

See cases

Pathogenic
(Aug 12, 2011)

criteria provided, single submitter

Select item 5973126.

GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3

GRCh37:: Chr11:196966-3645369
GRCh38:: Chr11:196966-3624139

AP2A2, ASCL2, CARS, CD81, CD151, CDKN1C, CTSD, DRD4, DUSP8, HRAS, IGF2, INS, IRF7, KCNQ1, LSP1, MUC2, MUC5AC, MUC6, NAP1L4, SLC22A18, SLC22A18AS, POLR2L, PSMD13, RNH1, MRPL23, RPLP2, SCT, TALDO1, TH, TSPAN4, TNNI2, TNNT3, PHLDA2, ZNF195, RASSF7, IFITM1, BRSK2, TSPAN32, TSSC4, IFITM3, DEAF1, IFITM2, KCNQ1OT1, PKP3, SIRT3, C11orf21, TRPM5, IGF2-AS, BET1L, CEND1, CDHR5, TOLLIP, PIDD1, KCNQ1DN, PNPLA2, PHRF1, SIGIRR, RIC8A, EPS8L2, CHID1, SLC25A22, PGGHG, PTDSS2, MOB2, SYT8, ODF3, OSBPL5, LRRC56, MRGPRE, LOC143666, NLRP6, LOC171391, TOLLIP-AS1, LMNTD2, H19, CRACR2B, TMEM80, MRGPRG-AS1, ANO9, KRTAP5-AS1, KCNQ1-AS1, B4GALNT4, GATD1, MRGPRG, KRTAP5-1, KRTAP5-3, IFITM5, FAM99A, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, MIR483, SNORA52, TSSC2, SNORA54, INS-IGF2, MUC5B, MIR675, FAM99B, MRPL23-AS1, MIR4298, MIR210HG, MIR4686, PANO1, LOC101927503, LINC01150, CD81-AS1, LOC101927708, MIR6743, MIR7847, MIR6744, PRR33, HOTS, LINC01219, SNORD131

See cases

Pathogenic
(Aug 12, 2011)

criteria provided, single submitter

Select item 5727427.

GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3

GRCh37:: Chr11:196966-3398307
GRCh38:: Chr11:196966-3377077

AP2A2, ASCL2, CARS, CD81, CD151, CDKN1C, CTSD, DRD4, DUSP8, HRAS, IGF2, INS, IRF7, KCNQ1, LSP1, MUC2, MUC5AC, MUC6, NAP1L4, SLC22A18, SLC22A18AS, POLR2L, PSMD13, RNH1, MRPL23, RPLP2, SCT, TALDO1, TH, TSPAN4, TNNI2, TNNT3, PHLDA2, ZNF195, RASSF7, IFITM1, BRSK2, TSPAN32, TSSC4, IFITM3, DEAF1, IFITM2, KCNQ1OT1, PKP3, SIRT3, C11orf21, TRPM5, IGF2-AS, BET1L, CEND1, CDHR5, TOLLIP, PIDD1, KCNQ1DN, PNPLA2, PHRF1, SIGIRR, RIC8A, EPS8L2, CHID1, SLC25A22, PGGHG, PTDSS2, MOB2, SYT8, ODF3, OSBPL5, LRRC56, MRGPRE, LOC143666, NLRP6, LOC171391, TOLLIP-AS1, LMNTD2, H19, CRACR2B, TMEM80, MRGPRG-AS1, ANO9, KRTAP5-AS1, KCNQ1-AS1, B4GALNT4, GATD1, MRGPRG, KRTAP5-1, KRTAP5-3, IFITM5, FAM99A, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, MIR483, SNORA52, SNORA54, INS-IGF2, MUC5B, MIR675, FAM99B, MRPL23-AS1, MIR4298, MIR210HG, MIR4686, PANO1, LOC101927503, LINC01150, CD81-AS1, MIR6743, MIR7847, MIR6744, PRR33, HOTS, LINC01219, SNORD131

See cases

Pathogenic
(Aug 12, 2011)

criteria provided, single submitter

Select item 5725828.

GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3

GRCh37:: Chr11:196966-4456574
GRCh38:: Chr11:196966-4435344

AP2A2, RHOG, ART1, ASCL2, CARS, CD81, CD151, CDKN1C, CTSD, DRD4, DUSP8, 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, PGAP2, C11orf21, TRPM5, IGF2-AS, BET1L, CEND1, CDHR5, TOLLIP, PIDD1, KCNQ1DN, CHRNA10, PNPLA2, PHRF1, SIGIRR, RIC8A, EPS8L2, CHID1, SLC25A22, PGGHG, PTDSS2, MOB2, SYT8, ODF3, OSBPL5, LRRC56, MRGPRE, ART5, OR52B4, LOC143666, NLRP6, LOC171391, TOLLIP-AS1, LMNTD2, H19, CRACR2B, TMEM80, MRGPRG-AS1, ANO9, KRTAP5-AS1, KCNQ1-AS1, B4GALNT4, GATD1, MRGPRG, KRTAP5-1, KRTAP5-3, IFITM5, FAM99A, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, MIR483, SNORA52, TSSC2, SNORA54, INS-IGF2, MUC5B, MIR675, FAM99B, MRPL23-AS1, MIR4298, LOC100506082, MIR210HG, MIR4686, MIR4687, PANO1, LOC101927503, LINC01150, CD81-AS1, LOC101927708, MIR6743, MIR7847, MIR6744, PRR33, HOTS, LINC01219, SNORD131

See cases

Pathogenic
(Aug 12, 2011)

criteria provided, single submitter

ClinVar

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