ClinVar

GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)

Genes:

• CD2AP:CD2 associated protein [Gene - OMIM - HGNC]
• NFKBIE:NFKB inhibitor epsilon [Gene - OMIM - HGNC]
• RUNX2:RUNX family transcription factor 2 [Gene - OMIM - HGNC]
• RHAG:Rh associated glycoprotein [Gene - OMIM - HGNC]
• SUPT3H:SPT3 homolog, SAGA and STAGA complex component [Gene - OMIM - HGNC]
• TNFRSF21:TNF receptor superfamily member 21 [Gene - OMIM - HGNC]
• ADGRF1:adhesion G protein-coupled receptor F1 [Gene - OMIM - HGNC]
• ADGRF2:adhesion G protein-coupled receptor F2 [Gene - HGNC]
• ADGRF4:adhesion G protein-coupled receptor F4 [Gene - OMIM - HGNC]
• ADGRF5:adhesion G protein-coupled receptor F5 [Gene - HGNC]
• AARS2:alanyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
• ANKRD66:ankyrin repeat domain 66 [Gene - HGNC]
• CAPN11:calpain 11 [Gene - OMIM - HGNC]
• CDC5L:cell division cycle 5 like [Gene - OMIM - HGNC]
• CENPQ:centromere protein Q [Gene - OMIM - HGNC]
• CLIC5:chloride intracellular channel 5 [Gene - OMIM - HGNC]
• C6orf141:chromosome 6 open reading frame 141 [Gene - HGNC]
• CRISP1:cysteine rich secretory protein 1 [Gene - OMIM - HGNC]
• CRISP2:cysteine rich secretory protein 2 [Gene - OMIM - HGNC]
• CRISP3:cysteine rich secretory protein 3 [Gene - OMIM - HGNC]
• CYP39A1:cytochrome P450 family 39 subfamily A member 1 [Gene - OMIM - HGNC]
• DEFB110:defensin beta 110 [Gene - HGNC]
• DEFB112:defensin beta 112 [Gene - HGNC]
• DEFB113:defensin beta 113 [Gene - HGNC]
• DEFB114:defensin beta 114 [Gene - OMIM - HGNC]
• ENPP4:ectonucleotide pyrophosphatase/phosphodiesterase 4 [Gene - OMIM - HGNC]
• ENPP5:ectonucleotide pyrophosphatase/phosphodiesterase family member 5 [Gene - OMIM - HGNC]
• GLYATL3:glycine-N-acyltransferase like 3 [Gene - OMIM - HGNC]
• HSP90AB1:heat shock protein 90 alpha family class B member 1 [Gene - OMIM - HGNC]
• LINC03040:long intergenic non-protein coding RNA 3040 [Gene - HGNC]
• MEP1A:meprin A subunit alpha [Gene - OMIM - HGNC]
• MMUT:methylmalonyl-CoA mutase [Gene - OMIM - HGNC]
• MRPL14:mitochondrial ribosomal protein L14 [Gene - OMIM - HGNC]
• MRPS18A:mitochondrial ribosomal protein S18A [Gene - OMIM - HGNC]
• OPN5:opsin 5 [Gene - OMIM - HGNC]
• PTCHD4:patched domain containing 4 [Gene - OMIM - HGNC]
• PGK2:phosphoglycerate kinase 2 [Gene - OMIM - HGNC]
• PLA2G7:phospholipase A2 group VII [Gene - OMIM - HGNC]
• RSPH9:radial spoke head component 9 [Gene - OMIM - HGNC]
• RCAN2:regulator of calcineurin 2 [Gene - OMIM - HGNC]
• SLC25A27:solute carrier family 25 member 27 [Gene - OMIM - HGNC]
• SLC29A1:solute carrier family 29 member 1 (Augustine blood group) [Gene - OMIM - HGNC]
• SLC35B2:solute carrier family 35 member B2 [Gene - OMIM - HGNC]
• SPATS1:spermatogenesis associated serine rich 1 [Gene - HGNC]
• TCTE1:t-complex-associated-testis-expressed 1 [Gene - OMIM - HGNC]
• TFAP2B:transcription factor AP-2 beta [Gene - OMIM - HGNC]
• TFAP2D:transcription factor AP-2 delta [Gene - OMIM - HGNC]
• TMEM151B:transmembrane protein 151B [Gene - HGNC]
• TMEM63B:transmembrane protein 63B [Gene - OMIM - HGNC]
• TDRD6:tudor domain containing 6 [Gene - OMIM - HGNC]
• LOC101926915:uncharacterized LOC101926915 [Gene]
• VEGFA:vascular endothelial growth factor A [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

6p21.1-12.3

Genomic location:

Chr6: 43636308 - 50947320 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)

HGVS:

NC_000006.11:g.(?_43636308)_(50947320_?)del

This HGVS expression did not pass validation

Observations:

1