ClinVar

GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1

Genes:

• AKAP3:A-kinase anchoring protein 3 [Gene - OMIM - HGNC]
• CD9:CD9 molecule [Gene - OMIM - HGNC]
• ERC1:ELKS/RAB6-interacting/CAST family member 1 [Gene - OMIM - HGNC]
• FBXL14:F-box and leucine rich repeat protein 14 [Gene - OMIM - HGNC]
• FKBP4:FKBP prolyl isomerase 4 [Gene - OMIM - HGNC]
• IQSEC3:IQ motif and Sec7 domain ArfGEF 3 [Gene - OMIM - HGNC]
• NDUFA9:NADH:ubiquinone oxidoreductase subunit A9 [Gene - OMIM - HGNC]
• NINJ2-AS1:NINJ2 antisense RNA 1 [Gene - HGNC]
• RAD51AP1:RAD51 associated protein 1 [Gene - OMIM - HGNC]
• RAD52:RAD52 homolog, DNA repair protein [Gene - OMIM - HGNC]
• RHNO1:RAD9-HUS1-RAD1 interacting nuclear orphan 1 [Gene - OMIM - HGNC]
• TEAD4:TEA domain transcription factor 4 [Gene - OMIM - HGNC]
• TIGAR:TP53 induced glycolysis regulatory phosphatase [Gene - OMIM - HGNC]
• TULP3:TUB like protein 3 [Gene - OMIM - HGNC]
• WNK1:WNK lysine deficient protein kinase 1 [Gene - OMIM - HGNC]
• WNT5B:Wnt family member 5B [Gene - OMIM - HGNC]
• ADIPOR2:adiponectin receptor 2 [Gene - OMIM - HGNC]
• ANO2:anoctamin 2 [Gene - OMIM - HGNC]
• B4GALNT3:beta-1,4-N-acetyl-galactosaminyltransferase 3 [Gene - OMIM - HGNC]
• CRACR2A:calcium release activated channel regulator 2A [Gene - OMIM - HGNC]
• CACNA2D4:calcium voltage-gated channel auxiliary subunit alpha2delta 4 [Gene - OMIM - HGNC]
• CACNA1C:calcium voltage-gated channel subunit alpha1 C [Gene - OMIM - HGNC]
• C12orf4:chromosome 12 open reading frame 4 [Gene - OMIM - HGNC]
• CCDC77:coiled-coil domain containing 77 [Gene - HGNC]
• CCND2:cyclin D2 [Gene - OMIM - HGNC]
• DCP1B:decapping mRNA 1B [Gene - OMIM - HGNC]
• DYRK4:dual specificity tyrosine phosphorylation regulated kinase 4 [Gene - OMIM - HGNC]
• FGF23:fibroblast growth factor 23 [Gene - OMIM - HGNC]
• FGF6:fibroblast growth factor 6 [Gene - OMIM - HGNC]
• FOXM1:forkhead box M1 [Gene - OMIM - HGNC]
• ITFG2:integrin alpha FG-GAP repeat containing 2 [Gene - OMIM - HGNC]
• LRTM2:leucine rich repeats and transmembrane domains 2 [Gene - HGNC]
• KDM5A:lysine demethylase 5A [Gene - OMIM - HGNC]
• NTF3:neurotrophin 3 [Gene - OMIM - HGNC]
• NINJ2:ninjurin 2 [Gene - OMIM - HGNC]
• NRIP2:nuclear receptor interacting protein 2 [Gene - HGNC]
• PARP11:poly(ADP-ribose) polymerase family member 11 [Gene - OMIM - HGNC]
• GALNT8:polypeptide N-acetylgalactosaminyltransferase 8 [Gene - OMIM - HGNC]
• KCNA1:potassium voltage-gated channel subfamily A member 1 [Gene - OMIM - HGNC]
• KCNA5:potassium voltage-gated channel subfamily A member 5 [Gene - OMIM - HGNC]
• KCNA6:potassium voltage-gated channel subfamily A member 6 [Gene - OMIM - HGNC]
• PRMT8:protein arginine methyltransferase 8 [Gene - OMIM - HGNC]
• SLC6A12:solute carrier family 6 member 12 [Gene - OMIM - HGNC]
• SLC6A13:solute carrier family 6 member 13 [Gene - OMIM - HGNC]
• TSPAN9:tetraspanin 9 [Gene - OMIM - HGNC]
• VWF:von Willebrand factor [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

12p13.33-13.31

Genomic location:

Chr12: 173786 - 6346092 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1

HGVS:

NC_000012.11:g.(?_173786)_(6346092_?)del

This HGVS expression did not pass validation