ClinVar

GRCh37/hg19 19p13.3(chr19:266117-1094614)x3

Genes:

• ARID3A:AT-rich interaction domain 3A [Gene - OMIM - HGNC]
• ABCA7:ATP binding cassette subfamily A member 7 [Gene - OMIM - HGNC]
• C2CD4C:C2 calcium dependent domain containing 4C [Gene - OMIM - HGNC]
• KISS1R:KISS1 receptor [Gene - OMIM - HGNC]
• MIER2:MIER family member 2 [Gene - OMIM - HGNC]
• R3HDM4:R3H domain containing 4 [Gene - HGNC]
• POLR2E:RNA polymerase II, I and III subunit E [Gene - OMIM - HGNC]
• POLRMT:RNA polymerase mitochondrial [Gene - OMIM - HGNC]
• ARHGAP45:Rho GTPase activating protein 45 [Gene - OMIM - HGNC]
• SHC2:SHC adaptor protein 2 [Gene - OMIM - HGNC]
• WDR18:WD repeat domain 18 [Gene - OMIM - HGNC]
• AZU1:azurocidin 1 [Gene - OMIM - HGNC]
• BSG:basigin (Ok blood group) [Gene - OMIM - HGNC]
• CNN2:calponin 2 [Gene - OMIM - HGNC]
• CDC34:cell division cycle 34, ubiqiutin conjugating enzyme [Gene - OMIM - HGNC]
• CFD:complement factor D [Gene - OMIM - HGNC]
• ELANE:elastase, neutrophil expressed [Gene - OMIM - HGNC]
• FGF22:fibroblast growth factor 22 [Gene - OMIM - HGNC]
• FSTL3:follistatin like 3 [Gene - OMIM - HGNC]
• GRIN3B:glutamate ionotropic receptor NMDA type subunit 3B [Gene - OMIM - HGNC]
• GZMM:granzyme M [Gene - OMIM - HGNC]
• HCN2:hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 [Gene - OMIM - HGNC]
• MED16:mediator complex subunit 16 [Gene - OMIM - HGNC]
• MISP:mitotic spindle positioning [Gene - OMIM - HGNC]
• MADCAM1:mucosal vascular addressin cell adhesion molecule 1 [Gene - OMIM - HGNC]
• ODF3L2:outer dense fiber of sperm tails 3 like 2 [Gene - HGNC]
• PALM:paralemmin [Gene - OMIM - HGNC]
• PLPP2:phospholipid phosphatase 2 [Gene - OMIM - HGNC]
• PLPPR3:phospholipid phosphatase related 3 [Gene - OMIM - HGNC]
• PTBP1:polypyrimidine tract binding protein 1 [Gene - OMIM - HGNC]
• PRTN3:proteinase 3 [Gene - OMIM - HGNC]
• RNF126:ring finger protein 126 [Gene - OMIM - HGNC]
• PRSS57:serine protease 57 [Gene - HGNC]
• THEG:theg spermatid protein [Gene - OMIM - HGNC]
• TMEM259:transmembrane protein 259 [Gene - OMIM - HGNC]
• TPGS1:tubulin polyglutamylase complex subunit 1 [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

19p13.3

Genomic location:

Chr19: 266117 - 1094614 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 19p13.3(chr19:266117-1094614)x3

HGVS:

This HGVS expression did not pass validation

Observations:

1