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#620192 - LACRIMOAURICULODENTODIGITAL SYNDROME 2; LADD2
Gene summaries Genetic tests Medical literature
#616482 - ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS; SADDAN
Cytogenetic locations: mutation
#612247 - CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS; CAN
#610474 - CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME; CATSHLS
Cytogenetic locations: 17033969
#603956 - CERVICAL CANCER
#602849 - MUENKE SYNDROME; MNKES
Cytogenetic locations: 20643727
#273300 - TESTICULAR GERM CELL TUMOR; TGCT
SEMINOMA, INCLUDED
Cytogenetic locations: 1p36, 1p36, 1p36, 1p36
#187601 - THANATOPHORIC DYSPLASIA, TYPE II; TD2
Cytogenetic locations: 19677066
#187600 - THANATOPHORIC DYSPLASIA, TYPE I; TD1
Cytogenetic locations: 12716037
#162900 - NEVUS, EPIDERMAL
NEVUS SEBACEOUS, INCLUDED
Cytogenetic locations: 1p36, 1p36, 1p36
#146000 - HYPOCHONDROPLASIA; HCH
Cytogenetic locations: 23726269
*134934 - FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3
FGFR3/TACC3 FUSION GENE, INCLUDED
Cytogenetic locations: 18076102
#114500 - COLORECTAL CANCER; CRC
Cytogenetic locations: 1p36, 1p36, 1p36, 1p36, 1p36, 1p36, 20p, distal, 1p36, 1p36, 1p36, 1p36, 1p36, 1p36, 700kb, of, duplication, germline, heterozygous, 1p36, rs4444235, with, associated, 1p36
#109800 - BLADDER CANCER
Cytogenetic locations: 1p36, 13q12.11
#100800 - ACHONDROPLASIA; ACH
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