ClinVar

GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)

Genes:

• NT5DC3:5'-nucleotidase domain containing 3 [Gene - OMIM - HGNC]
• ARL1:ADP ribosylation factor like GTPase 1 [Gene - OMIM - HGNC]
• DEPDC4:DEP domain containing 4 [Gene - HGNC]
• DRAM1:DNA damage regulated autophagy modulator 1 [Gene - OMIM - HGNC]
• EID3:EP300 interacting inhibitor of differentiation 3 [Gene - OMIM - HGNC]
• GNPTAB:N-acetylglucosamine-1-phosphate transferase subunits alpha and beta [Gene - OMIM - HGNC]
• NOPCHAP1:NOP protein chaperone 1 [Gene - HGNC]
• PARPBP:PARP1 binding protein [Gene - OMIM - HGNC]
• SCYL2:SCY1 like pseudokinase 2 [Gene - OMIM - HGNC]
• SPIC:Spi-C transcription factor [Gene - OMIM - HGNC]
• UTP20:UTP20 small subunit processome component [Gene - OMIM - HGNC]
• WASHC3:WASH complex subunit 3 [Gene - OMIM - HGNC]
• WASHC4:WASH complex subunit 4 [Gene - OMIM - HGNC]
• ASCL1:achaete-scute family bHLH transcription factor 1 [Gene - OMIM - HGNC]
• ACTR6:actin related protein 6 [Gene - OMIM - HGNC]
• APPL2:adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 [Gene - OMIM - HGNC]
• ALDH1L2:aldehyde dehydrogenase 1 family member L2 [Gene - OMIM - HGNC]
• ANO4:anoctamin 4 [Gene - OMIM - HGNC]
• CHST11:carbohydrate sulfotransferase 11 [Gene - OMIM - HGNC]
• CHPT1:choline phosphotransferase 1 [Gene - OMIM - HGNC]
• C12orf42:chromosome 12 open reading frame 42 [Gene - HGNC]
• C12orf73:chromosome 12 open reading frame 73 [Gene - OMIM - HGNC]
• C12orf75:chromosome 12 open reading frame 75 [Gene - HGNC]
• GLT8D2:glycosyltransferase 8 domain containing 2 [Gene - HGNC]
• GAS2L3:growth arrest specific 2 like 3 [Gene - OMIM - HGNC]
• HSP90B1:heat shock protein 90 beta family member 1 [Gene - OMIM - HGNC]
• HCFC2:host cell factor C2 [Gene - OMIM - HGNC]
• IGF1:insulin like growth factor 1 [Gene - OMIM - HGNC]
• MYBPC1:myosin binding protein C1 [Gene - OMIM - HGNC]
• NR1H4:nuclear receptor subfamily 1 group H member 4 [Gene - OMIM - HGNC]
• NFYB:nuclear transcription factor Y subunit beta [Gene - OMIM - HGNC]
• NUP37:nucleoporin 37 [Gene - OMIM - HGNC]
• PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]
• PMCH:pro-melanin concentrating hormone [Gene - OMIM - HGNC]
• SLC17A8:solute carrier family 17 member 8 [Gene - OMIM - HGNC]
• SLC41A2:solute carrier family 41 member 2 [Gene - OMIM - HGNC]
• SLC5A8:solute carrier family 5 member 8 [Gene - OMIM - HGNC]
• STAB2:stabilin 2 [Gene - OMIM - HGNC]
• SYCP3:synaptonemal complex protein 3 [Gene - OMIM - HGNC]
• TXNRD1:thioredoxin reductase 1 [Gene - OMIM - HGNC]
• TDG:thymine DNA glycosylase [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

12q23.1-23.3

Genomic location:

Chr12: 100580198 - 105804075 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)

Observations:

1