ClinVar

NC_000012.11:g.(?_120270555)_(124242579_?)dup

Genes:

• OASL:2'-5'-oligoadenylate synthetase like [Gene - OMIM - HGNC]
• OGFOD2:2-oxoglutarate and iron dependent oxygenase domain containing 2 [Gene - HGNC]
• HPD:4-hydroxyphenylpyruvate dioxygenase [Gene - OMIM - HGNC]
• ARL6IP4:ARF 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]
• BICDL1:BICD family like cargo adaptor 1 [Gene - OMIM - HGNC]
• CLIP1:CAP-Gly domain containing linker protein 1 [Gene - OMIM - HGNC]
• DDX55:DEAD-box helicase 55 [Gene - OMIM - HGNC]
• GCN1:GCN1 activator of EIF2AK4 [Gene - OMIM - HGNC]
• HNF1A:HNF1 homeobox A [Gene - OMIM - HGNC]
• MPHOSPH9:M-phase phosphoprotein 9 [Gene - OMIM - HGNC]
• MLXIP:MLX interacting protein [Gene - OMIM - HGNC]
• MORN3:MORN repeat containing 3 [Gene - HGNC]
• ORAI1:ORAI calcium release-activated calcium modulator 1 [Gene - OMIM - HGNC]
• POP5:POP5 homolog, ribonuclease P/MRP subunit [Gene - OMIM - HGNC]
• RAB35:RAB35, member RAS oncogene family [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]
• TRIAP1:TP53 regulated inhibitor of apoptosis 1 [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]
• ACADS:acyl-CoA dehydrogenase short chain [Gene - OMIM - HGNC]
• ANAPC5:anaphase promoting complex subunit 5 [Gene - OMIM - HGNC]
• RSRC2:arginine and serine rich coiled-coil 2 [Gene - OMIM - HGNC]
• CABP1:calcium binding protein 1 [Gene - OMIM - HGNC]
• CAMKK2:calcium/calmodulin dependent protein kinase kinase 2 [Gene - OMIM - HGNC]
• C12orf43:chromosome 12 open reading frame 43 [Gene - HGNC]
• CFAP251:cilia and flagella associated protein 251 [Gene - OMIM - HGNC]
• CIT:citron rho-interacting serine/threonine kinase [Gene - OMIM - HGNC]
• COQ5:coenzyme Q5, methyltransferase [Gene - OMIM - HGNC]
• CCDC62:coiled-coil domain containing 62 [Gene - OMIM - HGNC]
• CDK2AP1:cyclin dependent kinase 2 associated protein 1 [Gene - OMIM - HGNC]
• COX6A1:cytochrome c oxidase subunit 6A1 [Gene - OMIM - HGNC]
• DENR:density regulated re-initiation and release factor [Gene - OMIM - HGNC]
• DIABLO:diablo IAP-binding mitochondrial protein [Gene - OMIM - HGNC]
• DYNLL1:dynein light chain LC8-type 1 [Gene - OMIM - HGNC]
• EIF2B1:eukaryotic translation initiation factor 2B subunit alpha [Gene - OMIM - HGNC]
• GTF2H3:general transcription factor IIH subunit 3 [Gene - OMIM - HGNC]
• GATC:glutamyl-tRNA amidotransferase subunit C [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]
• KDM2B:lysine demethylase 2B [Gene - OMIM - HGNC]
• KMT5A:lysine methyltransferase 5A [Gene - OMIM - HGNC]
• MLEC:malectin [Gene - OMIM - HGNC]
• MTRFR:mitochondrial translation release factor in rescue [Gene - OMIM - HGNC]
• MSI1:musashi RNA binding protein 1 [Gene - OMIM - HGNC]
• PXN:paxillin [Gene - OMIM - HGNC]
• PITPNM2:phosphatidylinositol transfer protein membrane associated 2 [Gene - OMIM - HGNC]
• PLA2G1B:phospholipase A2 group IB [Gene - OMIM - HGNC]
• PSMD9:proteasome 26S subunit, non-ATPase 9 [Gene - OMIM - HGNC]
• P2RX4:purinergic receptor P2X 4 [Gene - OMIM - HGNC]
• P2RX7:purinergic receptor P2X 7 [Gene - OMIM - HGNC]
• RHOF:ras homolog family member F, filopodia associated [Gene - OMIM - HGNC]
• RPLP0:ribosomal protein lateral stalk subunit P0 [Gene - OMIM - HGNC]
• RNF10:ring finger protein 10 [Gene - OMIM - HGNC]
• RNF34:ring finger protein 34 [Gene - OMIM - HGNC]
• SRSF9:serine and arginine rich splicing factor 9 [Gene - OMIM - HGNC]
• SPPL3:signal peptide peptidase like 3 [Gene - OMIM - HGNC]
• SIRT4:sirtuin 4 [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]
• UNC119B:unc-119 lipid binding chaperone B [Gene - OMIM - HGNC]
• ZCCHC8:zinc finger CCHC-type containing 8 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

12q24.23-24.31

Genomic location:

Chr12: 120270555 - 124242579 (on Assembly GRCh37)

Preferred name:

NC_000012.11:g.(?_120270555)_(124242579_?)dup

HGVS:

NC_000012.11:g.(?_120270555)_(124242579_?)dup

This HGVS expression did not pass validation