ClinVar

GRCh37/hg19 12q24.31-24.32(chr12:122169403-129084163)x1

Genes:

• OGFOD2:2-oxoglutarate and iron dependent oxygenase domain containing 2 [Gene - HGNC]
• HPD:4-hydroxyphenylpyruvate dioxygenase [Gene - OMIM - HGNC]
• ARL6IP4:ADP ribosylation factor like GTPase 6 interacting protein 4 [Gene - OMIM - HGNC]
• ABCB9:ATP binding cassette subfamily B member 9 [Gene - OMIM - HGNC]
• ATP6V0A2:ATPase H+ transporting V0 subunit a2 [Gene - OMIM - HGNC]
• BCL7A:BAF chromatin remodeling complex subunit BCL7A [Gene - OMIM - HGNC]
• BRI3BP:BRI3 binding protein [Gene - OMIM - HGNC]
• CLIP1:CAP-Gly domain containing linker protein 1 [Gene - OMIM - HGNC]
• DDX55:DEAD-box helicase 55 [Gene - HGNC]
• DHX37:DEAH-box helicase 37 [Gene - OMIM - HGNC]
• MPHOSPH9:M-phase phosphoprotein 9 [Gene - OMIM - HGNC]
• MLXIP:MLX interacting protein [Gene - OMIM - HGNC]
• RILPL1:Rab interacting lysosomal protein like 1 [Gene - OMIM - HGNC]
• RILPL2:Rab interacting lysosomal protein like 2 [Gene - OMIM - HGNC]
• SETD1B:SET domain containing 1B, histone lysine methyltransferase [Gene - OMIM - HGNC]
• B3GNT4:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 [Gene - OMIM - HGNC]
• VPS33A:VPS33A core subunit of CORVET and HOPS complexes [Gene - OMIM - HGNC]
• VPS37B:VPS37B subunit of ESCRT-I [Gene - OMIM - HGNC]
• AACS:acetoacetyl-CoA synthetase [Gene - OMIM - HGNC]
• RSRC2:arginine and serine rich coiled-coil 2 [Gene - OMIM - HGNC]
• CFAP251:cilia and flagella associated protein 251 [Gene - OMIM - HGNC]
• CCDC62:coiled-coil domain containing 62 [Gene - OMIM - HGNC]
• CCDC92:coiled-coil domain containing 92 [Gene - HGNC]
• CDK2AP1:cyclin dependent kinase 2 associated protein 1 [Gene - OMIM - HGNC]
• DENR:density regulated re-initiation and release factor [Gene - OMIM - HGNC]
• DIABLO:diablo IAP-binding mitochondrial protein [Gene - OMIM - HGNC]
• DNAH10:dynein axonemal heavy chain 10 [Gene - OMIM - HGNC]
• EIF2B1:eukaryotic translation initiation factor 2B subunit alpha [Gene - OMIM - HGNC]
• GTF2H3:general transcription factor IIH subunit 3 [Gene - OMIM - HGNC]
• HIP1R:huntingtin interacting protein 1 related [Gene - OMIM - HGNC]
• HCAR1:hydroxycarboxylic acid receptor 1 [Gene - OMIM - HGNC]
• HCAR2:hydroxycarboxylic acid receptor 2 [Gene - OMIM - HGNC]
• HCAR3:hydroxycarboxylic acid receptor 3 [Gene - OMIM - HGNC]
• IL31:interleukin 31 [Gene - OMIM - HGNC]
• KNTC1:kinetochore associated 1 [Gene - OMIM - HGNC]
• LRRC43:leucine rich repeat containing 43 [Gene - HGNC]
• KMT5A:lysine methyltransferase 5A [Gene - OMIM - HGNC]
• MTRFR:mitochondrial translation release factor in rescue [Gene - OMIM - HGNC]
• NCOR2:nuclear receptor corepressor 2 [Gene - OMIM - HGNC]
• PITPNM2:phosphatidylinositol transfer protein membrane associated 2 [Gene - OMIM - HGNC]
• PSMD9:proteasome 26S subunit, non-ATPase 9 [Gene - OMIM - HGNC]
• RHOF:ras homolog family member F, filopodia associated [Gene - OMIM - HGNC]
• RFLNA:refilin A [Gene - OMIM - HGNC]
• SCARB1:scavenger receptor class B member 1 [Gene - OMIM - HGNC]
• SNRNP35:small nuclear ribonucleoprotein U11/U12 subunit 35 [Gene - OMIM - HGNC]
• SBNO1:strawberry notch homolog 1 [Gene - OMIM - HGNC]
• TCTN2:tectonic family member 2 [Gene - OMIM - HGNC]
• TMED2:transmembrane p24 trafficking protein 2 [Gene - OMIM - HGNC]
• TMEM120B:transmembrane protein 120B [Gene - OMIM - HGNC]
• TMEM132B:transmembrane protein 132B [Gene - HGNC]
• TMEM132C:transmembrane protein 132C [Gene - HGNC]
• UBC:ubiquitin C [Gene - OMIM - HGNC]
• ZCCHC8:zinc finger CCHC-type containing 8 [Gene - OMIM - HGNC]
• ZNF664:zinc finger protein 664 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

12q24.31-24.32

Genomic location:

Chr12: 122169403 - 129084163 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 12q24.31-24.32(chr12:122169403-129084163)x1

HGVS:

NC_000012.11:g.(?_122169403)_(129084163_?)del

This HGVS expression did not pass validation