ClinVar

GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3

Genes:

• AKAP1:A-kinase anchoring protein 1 [Gene - OMIM - HGNC]
• CHCT1:CHD1 helical C-terminal domain containing 1 [Gene - HGNC]
• CUEDC1:CUE domain containing 1 [Gene - OMIM - HGNC]
• DHX40:DEAH-box helicase 40 [Gene - OMIM - HGNC]
• DYNLL2-DT:DYNLL2 divergent transcript [Gene - HGNC]
• HEATR6:HEAT repeat containing 6 [Gene - HGNC]
• HLF:HLF transcription factor, PAR bZIP family member [Gene - OMIM - HGNC]
• MKS1:MKS transition zone complex subunit 1 [Gene - OMIM - HGNC]
• NME1:NME/NM23 nucleoside diphosphate kinase 1 [Gene - OMIM - HGNC]
• NME2:NME/NM23 nucleoside diphosphate kinase 2 [Gene - OMIM - HGNC]
• NME1-NME2:NME1-NME2 readthrough [Gene - HGNC]
• RAD51C:RAD51 paralog C [Gene - OMIM - HGNC]
• SMG8:SMG8 nonsense mediated mRNA decay factor [Gene - OMIM - HGNC]
• SUPT4H1:SPT4 homolog, DSIF elongation factor subunit [Gene - OMIM - HGNC]
• TSPOAP1:TSPO associated protein 1 [Gene - OMIM - HGNC]
• UTP18:UTP18 small subunit processome component [Gene - OMIM - HGNC]
• APPBP2:amyloid beta precursor protein binding protein 2 [Gene - OMIM - HGNC]
• ANKFN1:ankyrin repeat and fibronectin type III domain containing 1 [Gene - HGNC]
• CA10:carbonic anhydrase 10 [Gene - OMIM - HGNC]
• CA4:carbonic anhydrase 4 [Gene - OMIM - HGNC]
• C17orf47:chromosome 17 open reading frame 47 [Gene - HGNC]
• C17orf67:chromosome 17 open reading frame 67 [Gene - HGNC]
• CLTC:clathrin heavy chain [Gene - OMIM - HGNC]
• COIL:coilin [Gene - OMIM - HGNC]
• COX11:cytochrome c oxidase copper chaperone COX11 [Gene - OMIM - HGNC]
• DGKE:diacylglycerol kinase epsilon [Gene - OMIM - HGNC]
• DYNLL2:dynein light chain LC8-type 2 [Gene - OMIM - HGNC]
• EPX:eosinophil peroxidase [Gene - OMIM - HGNC]
• GDPD1:glycerophosphodiester phosphodiesterase domain containing 1 [Gene - OMIM - HGNC]
• HSF5:heat shock transcription factor 5 [Gene - HGNC]
• KIF2B:kinesin family member 2B [Gene - OMIM - HGNC]
• LPO:lactoperoxidase [Gene - OMIM - HGNC]
• LINC02876:long intergenic non-protein coding RNA 2876 [Gene - HGNC]
• MBTD1:mbt domain containing 1 [Gene - OMIM - HGNC]
• MIR21:microRNA 21 [Gene - OMIM - HGNC]
• MRPS23:mitochondrial ribosomal protein S23 [Gene - OMIM - HGNC]
• MMD:monocyte to macrophage differentiation associated [Gene - OMIM - HGNC]
• MSI2:musashi RNA binding protein 2 [Gene - OMIM - HGNC]
• MPO:myeloperoxidase [Gene - OMIM - HGNC]
• MTMR4:myotubularin related protein 4 [Gene - OMIM - HGNC]
• NOG:noggin [Gene - OMIM - HGNC]
• OR4D1:olfactory receptor family 4 subfamily D member 1 [Gene - HGNC]
• OR4D2:olfactory receptor family 4 subfamily D member 2 [Gene - HGNC]
• PTRH2:peptidyl-tRNA hydrolase 2 [Gene - OMIM - HGNC]
• PCTP:phosphatidylcholine transfer protein [Gene - OMIM - HGNC]
• PRR11:proline rich 11 [Gene - OMIM - HGNC]
• PPM1D:protein phosphatase, Mg2+/Mn2+ dependent 1D [Gene - OMIM - HGNC]
• PPM1E:protein phosphatase, Mg2+/Mn2+ dependent 1E [Gene - OMIM - HGNC]
• RPS6KB1:ribosomal protein S6 kinase B1 [Gene - OMIM - HGNC]
• RNF43:ring finger protein 43 [Gene - OMIM - HGNC]
• RNFT1:ring finger protein, transmembrane 1 [Gene - OMIM - HGNC]
• SEPTIN4:septin 4 [Gene - OMIM - HGNC]
• SRSF1:serine and arginine rich splicing factor 1 [Gene - OMIM - HGNC]
• SCPEP1:serine carboxypeptidase 1 [Gene - OMIM - HGNC]
• SPAG9:sperm associated antigen 9 [Gene - OMIM - HGNC]
• SKA2:spindle and kinetochore associated complex subunit 2 [Gene - OMIM - HGNC]
• STXBP4:syntaxin binding protein 4 [Gene - OMIM - HGNC]
• TOM1L1:target of myb1 like 1 membrane trafficking protein [Gene - OMIM - HGNC]
• TEX14:testis expressed 14, intercellular bridge forming factor [Gene - OMIM - HGNC]
• TMEM100:transmembrane protein 100 [Gene - OMIM - HGNC]
• TRIM25:tripartite motif containing 25 [Gene - OMIM - HGNC]
• TRIM37:tripartite motif containing 37 [Gene - OMIM - HGNC]
• TUBD1:tubulin delta 1 [Gene - OMIM - HGNC]
• USP32:ubiquitin specific peptidase 32 [Gene - OMIM - HGNC]
• VMP1:vacuole membrane protein 1 [Gene - OMIM - HGNC]
• VEZF1:vascular endothelial zinc finger 1 [Gene - OMIM - HGNC]
• YPEL2:yippee like 2 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

17q21.33-23.2

Genomic location:

Chr17: 49076980 - 58740945 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3

HGVS:

This HGVS expression did not pass validation

Links:

dbVar: nssv13648525; dbVar: nsv2770925

Observations:

1