ClinVar Miner

Variants studied for Silver-Russell syndrome 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
9 1 2 0 0 1 13

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
IGF2, INS-IGF2 2 1 0 0 3
DLK1 0 0 2 0 2
HMGA2 2 0 0 0 2
ADM, AKIP1, AMPD3, ANO9, AP2A2, APBB1, ARFIP2, ART1, ART5, ASCL2, ASCL3, B4GALNT4, BET1L, BRSK2, C11orf16, C11orf21, C11orf40, C11orf42, CARS1, CAVIN3, CCKBR, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CIMAP1A, CNGA4, CRACR2B, CSNK2A3, CTR9, CTSD, CYB5R2, DCHS1, DEAF1, DENND2B, DENND5A, DKK3, DNHD1, DRD4, DUSP8, EIF3F, EIF4G2, EPS8L2, FHIP1B, GALNT18, GATD1, H19, HBB, HBD, HBE1, HBG1, HBG2, HPX, HRAS, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, ILK, INS, INS-IGF2, IPO7, IRAG1, IRF7, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LMO1, LRRC56, LSP1, LYVE1, MICAL2, MICALCL, MIR210, MIR210HG, MMP26, MOB2, MRGPRE, MRGPRG, MRPL17, MRPL23, MTRNR2L8, MUC2, MUC5AC, MUC5B, MUC6, NAP1L4, NLRP10, NLRP14, NLRP6, NRIP3, NUP98, OLFML1, OR10A2, OR10A3, OR10A4, OR10A5, OR10A6, OR2AG1, OR2AG2, OR2D2, OR2D3, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B4, OR5P2, OR5P3, OR6A2, OSBPL5, OVCH2, PARVA, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PPFIBP2, PSMD13, PTDSS2, RASSF7, RBMXL2, RHOG, RIC3, RIC8A, RNF141, RNH1, RPL27A, RPLP2, RRM1, RRP8, SBF2, SCGB1C1, SCT, SCUBE2, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SMPD1, SNORA3B, STIM1, STK33, SWAP70, SYT8, SYT9, TAF10, TALDO1, TH, TIMM10B, TMEM41B, TMEM80, TMEM9B, TNNI2, TNNT3, TOLLIP, TPP1, TRIM21, TRIM22, TRIM3, TRIM34, TRIM5, TRIM6, TRIM66, TRIM68, TRPM5, TSPAN32, TSPAN4, TSSC4, TUB, UBQLN3, UBQLNL, USP47, WEE1, ZBED5, ZNF143, ZNF195, ZNF214, ZNF215 1 0 0 0 1
ANO9, AP2A2, APBB1, ARFIP2, ART1, ART5, ASCL2, B4GALNT4, BRSK2, C11orf21, C11orf40, C11orf42, CARS1, CAVIN3, CCKBR, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CNGA4, CRACR2B, CTSD, CYB5R2, DCHS1, DEAF1, DNHD1, DRD4, DUSP8, EIF3F, EPS8L2, FHIP1B, GATD1, H19, HBB, HBD, HBE1, HBG1, HBG2, HPX, HRAS, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, ILK, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LMO1, LRRC56, LSP1, MIR210, MIR210HG, MMP26, MOB2, MRGPRE, MRGPRG, MRPL17, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, NAP1L4, NLRP10, NLRP14, NLRP6, NUP98, OLFML1, OR10A2, OR10A3, OR10A4, OR10A5, OR10A6, OR2AG1, OR2AG2, OR2D2, OR2D3, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B4, OR5P2, OR5P3, OR6A2, OSBPL5, OVCH2, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PPFIBP2, PSMD13, PTDSS2, RASSF7, RBMXL2, RHOG, RIC3, RIC8A, RNH1, RPLP2, RRM1, RRP8, SCT, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SMPD1, STIM1, STK33, SYT8, SYT9, TAF10, TALDO1, TH, TIMM10B, TMEM80, TNNI2, TNNT3, TOLLIP, TPP1, TRIM21, TRIM22, TRIM3, TRIM34, TRIM5, TRIM6, TRIM66, TRIM68, TRPM5, TSPAN32, TSPAN4, TSSC4, TUB, UBQLN3, UBQLNL, ZNF195, ZNF214, ZNF215 1 0 0 0 1
CDKN1C 0 0 0 1 1
KCNQ1, KCNQ1OT1, LOC106783508 1 0 0 0 1
LOC126860395, PLAG1 1 0 0 0 1
PLAG1 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance not provided total
Centre de Recherche Saint Antoine, Université Pierre et Marie Curie 6 0 0 1 7
Departement de Genetique, Biologie Moleculaire Endocrinienne, Assistance Publique–Hôpitaux de Paris, Hopital Trousseau 0 0 2 0 2
Baylor Genetics 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 1
Institute of Medical Genetics, ASUI Udine 1 0 0 0 1

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