ClinVar

GRCh37/hg19 17p13.1(chr17:7241916-8692213)

Genes:

• ATP1B2:ATPase Na+/K+ transporting subunit beta 2 [Gene - OMIM - HGNC]
• ACAP1:ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 [Gene - OMIM - HGNC]
• BORCS6:BLOC-1 related complex subunit 6 [Gene - OMIM - HGNC]
• CD68:CD68 molecule [Gene - OMIM - HGNC]
• CTC1:CST telomere replication complex component 1 [Gene - OMIM - HGNC]
• FXR2:FMR1 autosomal homolog 2 [Gene - OMIM - HGNC]
• KRBA2:KRAB-A domain containing 2 [Gene - HGNC]
• NAA38:N-alpha-acetyltransferase 38, NatC auxiliary subunit [Gene - OMIM - HGNC]
• RANGRF:RAN guanine nucleotide release factor [Gene - OMIM - HGNC]
• POLR2A:RNA polymerase II subunit A [Gene - OMIM - HGNC]
• ARHGEF15:Rho guanine nucleotide exchange factor 15 [Gene - OMIM - HGNC]
• SPEM2:SPEM family member 2 [Gene - HGNC]
• SOX15:SRY-box transcription factor 15 [Gene - OMIM - HGNC]
• SENP3:SUMO specific peptidase 3 [Gene - OMIM - HGNC]
• TNFSF12:TNF superfamily member 12 [Gene - OMIM - HGNC]
• TNFSF13:TNF superfamily member 13 [Gene - OMIM - HGNC]
• TNFSF12-TNFSF13:TNFSF12-TNFSF13 readthrough [Gene - HGNC]
• WRAP53:WD repeat containing antisense to TP53 [Gene - OMIM - HGNC]
• ALOX12B:arachidonate 12-lipoxygenase, 12R type [Gene - OMIM - HGNC]
• ALOX15B:arachidonate 15-lipoxygenase type B [Gene - OMIM - HGNC]
• ALOXE3:arachidonate lipoxygenase 3 [Gene - OMIM - HGNC]
• AURKB:aurora kinase B [Gene - OMIM - HGNC]
• CNTROB:centrobin, centriole duplication and spindle assembly protein [Gene - OMIM - HGNC]
• CHRNB1:cholinergic receptor nicotinic beta 1 subunit [Gene - OMIM - HGNC]
• CHD3:chromodomain helicase DNA binding protein 3 [Gene - OMIM - HGNC]
• CCDC42:coiled-coil domain containing 42 [Gene - HGNC]
• CYB5D1:cytochrome b5 domain containing 1 [Gene - HGNC]
• DNAH2:dynein axonemal heavy chain 2 [Gene - OMIM - HGNC]
• EFNB3:ephrin B3 [Gene - OMIM - HGNC]
• EIF4A1:eukaryotic translation initiation factor 4A1 [Gene - OMIM - HGNC]
• FGF11:fibroblast growth factor 11 [Gene - OMIM - HGNC]
• GUCY2D:guanylate cyclase 2D, retinal [Gene - OMIM - HGNC]
• HES7:hes family bHLH transcription factor 7 [Gene - OMIM - HGNC]
• KDM6B:lysine demethylase 6B [Gene - OMIM - HGNC]
• MPDU1:mannose-P-dolichol utilization defect 1 [Gene - OMIM - HGNC]
• MYH10:myosin heavy chain 10 [Gene - OMIM - HGNC]
• NLGN2:neuroligin 2 [Gene - OMIM - HGNC]
• NDEL1:nudE neurodevelopment protein 1 like 1 [Gene - OMIM - HGNC]
• ODF4:outer dense fiber of sperm tails 4 [Gene - OMIM - HGNC]
• PER1:period circadian regulator 1 [Gene - OMIM - HGNC]
• PLSCR3:phospholipid scramblase 3 [Gene - OMIM - HGNC]
• PFAS:phosphoribosylformylglycinamidine synthase [Gene - OMIM - HGNC]
• KCTD11:potassium channel tetramerization domain containing 11 [Gene - OMIM - HGNC]
• KCNAB3:potassium voltage-gated channel subfamily A regulatory beta subunit 3 [Gene - OMIM - HGNC]
• RPL26:ribosomal protein L26 [Gene - OMIM - HGNC]
• RNF222:ring finger protein 222 [Gene - HGNC]
• SHBG:sex hormone binding globulin [Gene - OMIM - HGNC]
• SLC25A35:solute carrier family 25 member 35 [Gene - OMIM - HGNC]
• SLC35G6:solute carrier family 35 member G6 [Gene - HGNC]
• SPDYE4:speedy/RINGO cell cycle regulator family member E4 [Gene - OMIM - HGNC]
• SPEM1:spermatid maturation 1 [Gene - OMIM - HGNC]
• SAT2:spermidine/spermine N1-acetyltransferase family member 2 [Gene - OMIM - HGNC]
• TRR-TCT2-1:tRNA-Arg (anticodon TCT) 2-1 [Gene - OMIM - HGNC]
• TRQ-CTG1-5:tRNA-Gln (anticodon CTG) 1-5 [Gene - OMIM - HGNC]
• TRG-GCC2-6:tRNA-Gly (anticodon GCC) 2-6 [Gene - OMIM - HGNC]
• TRL-TAG1-1:tRNA-Leu (anticodon TAG) 1-1 [Gene - OMIM - HGNC]
• TRK-TTT3-5:tRNA-Lys (anticodon TTT) 3-5 [Gene - OMIM - HGNC]
• TRAPPC1:trafficking protein particle complex subunit 1 [Gene - OMIM - HGNC]
• TMEM102:transmembrane protein 102 [Gene - OMIM - HGNC]
• TMEM107:transmembrane protein 107 [Gene - OMIM - HGNC]
• TMEM256:transmembrane protein 256 [Gene - OMIM - HGNC]
• TMEM88:transmembrane protein 88 [Gene - OMIM - HGNC]
• TMEM95:transmembrane protein 95 [Gene - OMIM - HGNC]
• TP53:tumor protein p53 [Gene - OMIM - HGNC]
• TNK1:tyrosine kinase non receptor 1 [Gene - OMIM - HGNC]
• VAMP2:vesicle associated membrane protein 2 [Gene - OMIM - HGNC]
• ZBTB4:zinc finger and BTB domain containing 4 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

17p13.1

Genomic location:

Chr17: 7241916 - 8692213 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 17p13.1(chr17:7241916-8692213)

HGVS:

NC_000017.10:g.(?_7241916)_(8692213_?)del

This HGVS expression did not pass validation

Observations:

1