| - GRCh37:
- Chr14:101195335
- GRCh38:
- Chr14:100728998
| DLK1 | H65R | Silver-Russell syndrome 1 | Uncertain significance
(Apr 15, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr14:101194768
- GRCh38:
- Chr14:100728431
| DLK1 | G35R | Silver-Russell syndrome 1 | Uncertain significance
(Apr 15, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr11:210300-8664358
| AP2A2, MUC2, OR5P2, OR5P3, PGGHG, PHLDA2, PNPLA2, POLR2L, PPFIBP2, PSMD13, PHRF1, PIDD1, PKP3, PTDSS2, RASSF7, RBMXL2, RHOG, OR6A2, OSBPL5, OVCH2, PGAP2, OR10A5, OR10A6, OR51B2, OR10A3, OR10A4, NUP98, OLFML1, OR10A2, OR2AG1, OR2AG2, MUC5AC, MUC5B, OR2D2, OR2D3, OR51A2, OR51A4, OR51A7, ART1, ART5, BRSK2, C11orf42, ASCL2, B4GALNT4, APBB1, C11orf21, C11orf40, ARFIP2, CARS1, CAVIN3, ANO9, 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, IGF2-AS, ILK, INS, INS-IGF2, IRF7, LMNTD2, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2-AS1, LMO1, LRRC56, LSP1, MIR210, MIR210HG, MMP26, MOB2, MRGPRE, MRGPRG, MRPL17, MRPL23, MUC6, NAP1L4, NLRP10, NLRP14, NLRP6, 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, 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 | | Silver-Russell syndrome 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr11:2720674-2722054
- GRCh38:
- Chr11:2699444-2700824
| KCNQ1, KCNQ1OT1, LOC106783508 | | Silver-Russell syndrome 1 | Pathogenic
(Jul 6, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr11:2156654
- GRCh38:
- Chr11:2135424
| IGF2, INS-IGF2 | G34C, G90C | Silver-Russell syndrome 3, Silver-Russell syndrome 1, Wilms tumor 1,
Silver-Russell syndrome 3, Beckwith-Wiedemann syndrome | Likely pathogenic
(Mar 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:193146-12643136
| CTR9, MRPL17, MRPL23, OR52I1, OR52I2, STIM1, TH, TIMM10B, TMEM9B, TNNI2, TNNT3, TMEM41B, TMEM80, TOLLIP, TPP1, SYT8, SYT9, OR56A1, OR56A3, OR56A4, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, STK33, SWAP70, MTRNR2L8, MUC2, NRIP3, NUP98, OLFML1, OR10A4, OR10A5, OR10A2, OR10A3, OR10A6, OR2AG1, MUC5AC, MUC5B, TAF10, TALDO1, CTSD, CYB5R2, GATD1, H19, HBB, HBD, HBE1, HBG1, HPX, HRAS, IFITM1, IFITM10, IFITM2, HBG2, OR52J3, OR52K1, APBB1, ARFIP2, ADM, AKIP1, AMPD3, ANO9, AP2A2, ART1, ART5, ASCL2, ASCL3, B4GALNT4, BET1L, BRSK2, C11orf16, C11orf21, CARS1, CAVIN3, C11orf40, C11orf42, DRD4, CCKBR, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CIMAP1A, CNGA4, CRACR2B, CSNK2A3, DCHS1, DEAF1, DENND2B, DENND5A, DKK3, DNHD1, DUSP8, EIF3F, EIF4G2, EPS8L2, FHIP1B, GALNT18, IFITM3, IFITM5, IGF2, IGF2-AS, ILK, INS, INS-IGF2, IPO7, IRAG1, IRF7, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LMNTD2-AS1, LMO1, LRRC56, LSP1, LYVE1, MICAL2, MIR210, MIR210HG, MMP26, MOB2, MRGPRE, MRGPRG, MUC6, NAP1L4, NLRP10, NLRP14, NLRP6, 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, OR56A5, OR56B1, OR56B4, OR5P2, OR5P3, OR6A2, OSBPL5, OVCH2, PARVA, PGAP2, PGGHG, PPFIBP2, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PSMD13, PTDSS2, RASSF7, RBMXL2, RHOG, RIC3, RIC8A, RNF141, RNH1, RPL27A, RPLP2, RRM1, RRP8, SBF2, SCGB1C1, SCT, SCUBE2, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SMPD1, SNORA3B, TRIM21, TRIM22, TRIM3, TRIM34, TRIM5, TRIM6, TRIM66, TRIM68, TRPM5, TSPAN32, TSPAN4, TSSC4, TUB, UBQLN3, UBQLNL, USP47, WEE1, ZBED5, ZNF143, ZNF195, ZNF214, ZNF215 | | Silver-Russell syndrome 1 | Pathogenic
(Nov 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2156595-2156596
- GRCh38:
- Chr11:2135365-2135366
| IGF2, INS-IGF2 | | Silver-Russell syndrome 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr8:57079866
- GRCh38:
- Chr8:56167307
| LOC126860395, PLAG1 | S147fs, S65fs | Silver-russell syndrome 4, Silver-Russell syndrome 1 | Pathogenic
(Jun 15, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr11:2156676
- GRCh38:
- Chr11:2135446
| IGF2, INS-IGF2 | Y26*, Y82* | not provided | Pathogenic
(Sep 5, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr12:66221858
- GRCh38:
- Chr12:65828078
| HMGA2 | A64fs | Silver-Russell syndrome 5, Silver-Russell syndrome 1 | Pathogenic
(Jun 12, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr12:66221862
- GRCh38:
- Chr12:65828082
| HMGA2 | Q65* | not provided | Pathogenic
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:57078942
- GRCh38:
- Chr8:56166383
| PLAG1 | Q373fs, Q455fs | Silver-russell syndrome 4, Silver-Russell syndrome 1 | Pathogenic
(Jun 15, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr11:2905349
- GRCh38:
- Chr11:2884119
| CDKN1C | R279L, A91S, R268L | Beckwith-Wiedemann syndrome | Pathogenic
(Feb 10, 2022) | criteria provided, single submitter |