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#613675 - CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB
Cytogenetic locations: 39048923
Gene summaries Genetic tests Medical literature
*611358 - RING FINGER PROTEIN 135; RNF135
Cytogenetic locations: 30665703
*609660 - NLR FAMILY, PYRIN DOMAIN-CONTAINING 13; NLRP13
Cytogenetic locations: 612331
*609658 - NLR FAMILY, PYRIN DOMAIN-CONTAINING 5; NLRP5
Cytogenetic locations: 25542835
*609648 - NLR FAMILY, PYRIN DOMAIN-CONTAINING 12; NLRP12
Cytogenetic locations: 27314497
*609364 - NLR FAMILY, PYRIN DOMAIN-CONTAINING 2; NLRP2
Cytogenetic locations: mutation
*607456 - UTP4 SMALL SUBUNIT PROCESSOME COMPONENT; UTP4
Cytogenetic locations: 24754225
*606726 - SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 5; SLC12A5
Cytogenetic locations: PET117
*606702 - PKHD1 CILIARY IPT DOMAIN-CONTAINING FIBROCYSTIN/POLYDUCTIN; PKHD1
Cytogenetic locations: BRD4-interacting
*604983 - POLYMERASE, DNA, GAMMA-2; POLG2
Cytogenetic locations: -
*604961 - PHOSPHODIESTERASE 11A; PDE11A
PDE11A2, INCLUDED
Cytogenetic locations: 27535533
*603824 - UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE; GNE
Cytogenetic locations: 12443758
*601762 - CASPASE 10, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP10
CASPASE 10, ISOFORM B, INCLUDED; CASP10B, INCLUDED
Cytogenetic locations: 16446975
*601691 - ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4
Cytogenetic locations: 618968
*600733 - PANCREAS/DUODENUM HOMEOBOX PROTEIN 1; PDX1
Cytogenetic locations: 18754011
*180069 - RETINOID ISOMEROHYDROLASE RPE65; RPE65
Cytogenetic locations: 15790918
*162662 - NEUROTROPHIN 4; NTF4
Cytogenetic locations: 10869436
*147670 - INSULIN RECEPTOR; INSR
Cytogenetic locations: EXT3
*131244 - ENDOTHELIN RECEPTOR, TYPE B; EDNRB
Cytogenetic locations: 605333
*131242 - ENDOTHELIN 3; EDN3
Cytogenetic locations: 19764030
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