ClinVar

GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1

Genes:

• HMGCLL1:3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1 [Gene - OMIM - HGNC]
• EFHC1:EF-hand domain containing 1 [Gene - OMIM - HGNC]
• ELOVL5:ELOVL fatty acid elongase 5 [Gene - OMIM - HGNC]
• FBXO9:F-box protein 9 [Gene - OMIM - HGNC]
• GFRAL:GDNF family receptor alpha like [Gene - OMIM - HGNC]
• PKHD1:PKHD1 ciliary IPT domain containing fibrocystin/polyductin [Gene - OMIM - HGNC]
• RN7SK:RNA component of 7SK nuclear ribonucleoprotein [Gene - OMIM - HGNC]
• RHAG:Rh associated glycoprotein [Gene - OMIM - HGNC]
• CENPQ:centromere protein Q [Gene - OMIM - HGNC]
• C6orf141:chromosome 6 open reading frame 141 [Gene - HGNC]
• CILK1:ciliogenesis associated kinase 1 [Gene - OMIM - 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]
• 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]
• FAM83B:family with sequence similarity 83 member B [Gene - HGNC]
• GCM1:glial cells missing transcription factor 1 [Gene - OMIM - HGNC]
• GCLC:glutamate-cysteine ligase catalytic subunit [Gene - OMIM - HGNC]
• GSTA1:glutathione S-transferase alpha 1 [Gene - OMIM - HGNC]
• GSTA2:glutathione S-transferase alpha 2 [Gene - OMIM - HGNC]
• GSTA3:glutathione S-transferase alpha 3 [Gene - OMIM - HGNC]
• GSTA4:glutathione S-transferase alpha 4 [Gene - OMIM - HGNC]
• GSTA5:glutathione S-transferase alpha 5 [Gene - OMIM - HGNC]
• GLYATL3:glycine-N-acyltransferase like 3 [Gene - OMIM - HGNC]
• HCRTR2:hypocretin receptor 2 [Gene - OMIM - HGNC]
• IL17A:interleukin 17A [Gene - OMIM - HGNC]
• IL17F:interleukin 17F [Gene - OMIM - HGNC]
• KLHL31:kelch like family member 31 [Gene - OMIM - HGNC]
• LRRC1:leucine rich repeat containing 1 [Gene - OMIM - HGNC]
• MMUT:methylmalonyl-CoA mutase [Gene - OMIM - HGNC]
• MIR133B:microRNA 133b [Gene - OMIM - HGNC]
• MIR206:microRNA 206 [Gene - OMIM - HGNC]
• MCM3:minichromosome maintenance complex component 3 [Gene - OMIM - HGNC]
• MLIP:muscular LMNA interacting protein [Gene - OMIM - HGNC]
• PGK2:phosphoglycerate kinase 2 [Gene - OMIM - HGNC]
• PAQR8:progestin and adipoQ receptor family member 8 [Gene - OMIM - HGNC]
• TFAP2B:transcription factor AP-2 beta [Gene - OMIM - HGNC]
• TFAP2D:transcription factor AP-2 delta [Gene - OMIM - HGNC]
• TRAM2:translocation associated membrane protein 2 [Gene - OMIM - HGNC]
• TMEM14A:transmembrane protein 14A [Gene - OMIM - HGNC]
• TINAG:tubulointerstitial nephritis antigen [Gene - OMIM - HGNC]
• LOC101927189:uncharacterized LOC101927189 [Gene]

Variant type:

copy number loss

Cytogenetic location:

6p12.3-12.1

Genomic location:

Chr6: 48626041 - 55575545 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1

HGVS:

NC_000006.11:g.(48626041_?)_(?_55575545)del

This HGVS expression did not pass validation