Search results for POLD1

Gene symbol Genotype Mutation consequence Disease Panels Go to page
POLD1 monoallelic not specified POLYMERASE PROOFREADING-ASSOCIATED POLYPOSIS Cancer
POLD1 monoallelic all missense/in frame SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM DD