NM_005807.4(PRG4):c.4190_4191delCCinsAG (p.Ser1397Ter) | -1 | - | Pathogenic | 387906339 | RCV000006009; | N | MedGen:C1859690,OMIM:208250,ORPHA:2848 | 1 | 186282885 | 186282886 | NM_005807.4:c.4190_4191delCCinsAG | NP_005798.3:p.Ser1397Ter | NC_000001.10:g.186282885_186282886delCCinsAG | OMIM Allelic Variant:604283.0005 | C1859690 208250 Camptodactyly arthropathy coxa vara pericarditis syndrome | | |