Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 23402 single nucleotide variant NM_006267.4(RANBP2):c.1754C>T (p.Thr585Met) 121434502 MedGen:C2675556,OMIM:608033,Orphanet:ORPHA88619 2 109368449 109368449 C T 23402 single nucleotide variant NM_006267.4(RANBP2):c.1754C>T (p.Thr585Met) 121434502 MedGen:C2675556,OMIM:608033,Orphanet:ORPHA88619 2 108751993 108751993 C T 23403 single nucleotide variant NM_006267.4(RANBP2):c.1958C>T (p.Thr653Ile) 121434503 MedGen:C2675556,OMIM:608033,Orphanet:ORPHA88619 2 109369922 109369922 C T 23403 single nucleotide variant NM_006267.4(RANBP2):c.1958C>T (p.Thr653Ile) 121434503 MedGen:C2675556,OMIM:608033,Orphanet:ORPHA88619 2 108753466 108753466 C T 23404 single nucleotide variant NM_006267.4(RANBP2):c.1966A>G (p.Ile656Val) 121434504 MedGen:C2675556,OMIM:608033,Orphanet:ORPHA88619 2 109369930 109369930 A G 23404 single nucleotide variant NM_006267.4(RANBP2):c.1966A>G (p.Ile656Val) 121434504 MedGen:C2675556,OMIM:608033,Orphanet:ORPHA88619 2 108753474 108753474 A G

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000153201.15 RANBP2 601181