Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_004153.3(ORC1):c.2159G>A (p.Arg720Gln) | 4998 | ORC1 | Pathogenic | 387906828 | RCV000023157; | N | MedGen:CN030358,OMIM:224690 | 1 | 52841246 | 52841246 | NM_004153.3:c.2159G>A | NP_004144.2:p.Arg720Gln | NC_000001.10:g.52841246C>T | OMIM Allelic Variant:601902.0004 | CN030358 224690 Meier-Gorlin syndrome 1 | | |
NM_004153.3(ORC1):c.1996C>T (p.Arg666Trp) | 4998 | ORC1 | Pathogenic | 201253919 | RCV000023160; | N | MedGen:CN030358,OMIM:224690 | 1 | 52849109 | 52849109 | NM_004153.3:c.1996C>T | NP_004144.2:p.Arg666Trp | NC_000001.10:g.52849109G>A | OMIM Allelic Variant:601902.0007 | CN030358 224690 Meier-Gorlin syndrome 1 | | |
NM_004153.3(ORC1):c.380A>G (p.Glu127Gly) | 4998 | ORC1 | Pathogenic | 387906826 | RCV000023154; | N | MedGen:CN030358,OMIM:224690 | 1 | 52863379 | 52863379 | NM_004153.3:c.380A>G | NP_004144.2:p.Glu127Gly | NC_000001.10:g.52863379T>C | OMIM Allelic Variant:601902.0001 | CN030358 224690 Meier-Gorlin syndrome 1 | | |
NM_004153.3(ORC1):c.314G>A (p.Arg105Gln) | 4998 | ORC1 | Pathogenic | 143141689 | RCV000023156; | N | MedGen:CN030358,OMIM:224690 | 1 | 52863445 | 52863445 | NM_004153.3:c.314G>A | NP_004144.2:p.Arg105Gln | NC_000001.10:g.52863445C>T | OMIM Allelic Variant:601902.0003 | CN030358 224690 Meier-Gorlin syndrome 1 | | |
NM_004153.3(ORC1):c.266T>C (p.Phe89Ser) | 4998 | ORC1 | Pathogenic | 387906827 | RCV000023155; | N | MedGen:CN030358,OMIM:224690 | 1 | 52863493 | 52863493 | NM_004153.3:c.266T>C | NP_004144.2:p.Phe89Ser | NC_000001.10:g.52863493A>G | OMIM Allelic Variant:601902.0002 | CN030358 224690 Meier-Gorlin syndrome 1 | | |