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Gene Scoring  /  Category 2   33 genes

Database updated on June 20, 2019

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
CACNA1Dcalcium channel, voltage-dependent, L type, alpha 1D3Rare Single Gene Mutation, Syndromic, Genetic Association, Functional218
CACNA1Hcalcium channel, voltage-dependent, alpha 1H subunit16Rare Single Gene Mutation223
CACNA2D3Calcium channel, voltage-dependent, alpha 2/delta subunit 33Rare Single Gene Mutation26
CEP41testis specific, 147Rare Single Gene Mutation, Syndromic25
CNTN4contactin 43Rare Single Gene Mutation, Syndromic, Genetic Association221
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association2S64
CTNND2Catenin (cadherin-associated protein), delta 25Rare Single Gene Mutation25
CUX1cut like homeobox 17Rare Single Gene Mutation, Functional26
DIP2Cdisco interacting protein 2 homolog C10Rare Single Gene Mutation22
ERBINerbb2 interacting protein5Rare Single Gene Mutation25
GABRB3gamma-aminobutyric acid (GABA) A receptor, beta 315Rare Single Gene Mutation, Genetic Association237
GRIA1glutamate ionotropic receptor AMPA type subunit 15Rare Single Gene Mutation25
GRIP1glutamate receptor interacting protein 112Rare Single Gene Mutation212
ILF2Interleukin enhancer binding factor 21Rare Single Gene Mutation24
INTS6Integrator complex subunit 613Rare Single Gene Mutation24
KAT2BK(lysine) acetyltransferase 2B3Rare Single Gene Mutation26
KDM5BLysine (K)-specific demethylase 5B1Rare Single Gene Mutation, Syndromic, Functional212
KDM6Alysine demethylase 6AXRare Single Gene Mutation, Syndromic26
LEO1LEO1 homolog, Paf1/RNA polymerase II complex component15Rare Single Gene Mutation23
MACROD2MACRO domain containing 220Rare Single Gene Mutation, Genetic Association219
METmet proto-oncogene (hepatocyte growth factor receptor)7Rare Single Gene Mutation, Genetic Association, Functional237
NCOR1nuclear receptor corepressor 117Rare Single Gene Mutation, Functional26
MSNP1ASMoesinpseudogene 1, antisense5Genetic Association, Functional212
RANBP17RAN binding protein 175Rare Single Gene Mutation25
SCN9Asodium voltage-gated channel alpha subunit 92Rare Single Gene Mutation25
SETSETnuclear proto-oncogene9Rare Single Gene Mutation24
SRSF11serine and arginine rich splicing factor 111Rare Single Gene Mutation24
TAOK2TAO kinase 216Rare Single Gene Mutation, Functional25
TBL1XR1transducin beta like 1 X-linked receptor 13Rare Single Gene Mutation, Syndromic218
TNRC6BTrinucleotide repeat containing 6B22Rare Single Gene Mutation27
UBN2ubinuclein 27Rare Single Gene Mutation23
USP15ubiquitin specific peptidase 1512Rare Single Gene Mutation23
USP7Ubiquitin specific peptidase 7 (herpes virus-associated)16Rare Single Gene Mutation, Syndromic2S7
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