ClinVar

chr1:17555508-24706269 complex variant

Genes:

• HMGCL:3-hydroxy-3-methylglutaryl-CoA lyase [Gene - OMIM - HGNC]
• HTR1D:5-hydroxytryptamine receptor 1D [Gene - OMIM - HGNC]
• HTR6:5-hydroxytryptamine receptor 6 [Gene - OMIM - HGNC]
• ASAP3:ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 [Gene - OMIM - HGNC]
• E2F2:E2F transcription factor 2 [Gene - OMIM - HGNC]
• EPHA8:EPH receptor A8 [Gene - OMIM - HGNC]
• EPHB2:EPH receptor B2 [Gene - OMIM - HGNC]
• EMC1:ER membrane protein complex subunit 1 [Gene - OMIM - HGNC]
• MICOS10-NBL1:MICOS10-NBL1 readthrough [Gene - HGNC]
• MRTO4:MRT4 homolog, ribosome maturation factor [Gene - OMIM - HGNC]
• NBL1:NBL1, DAN family BMP antagonist [Gene - OMIM - HGNC]
• NBPF3:NBPF member 3 [Gene - OMIM - HGNC]
• OTUD3:OTU deubiquitinase 3 [Gene - OMIM - HGNC]
• PITHD1:PITH domain containing 1 [Gene - OMIM - HGNC]
• PINK1:PTEN induced kinase 1 [Gene - OMIM - HGNC]
• RAP1GAP:RAP1 GTPase activating protein [Gene - OMIM - HGNC]
• ARHGEF10L:Rho guanine nucleotide exchange factor 10 like [Gene - OMIM - HGNC]
• SH2D5:SH2 domain containing 5 [Gene - HGNC]
• UBXN10:UBX domain protein 10 [Gene - OMIM - HGNC]
• GALE:UDP-galactose-4-epimerase [Gene - OMIM - HGNC]
• WNT4:Wnt family member 4 [Gene - OMIM - HGNC]
• ACTL8:actin like 8 [Gene - HGNC]
• ALDH4A1:aldehyde dehydrogenase 4 family member A1 [Gene - OMIM - HGNC]
• AKR7L:aldo-keto reductase family 7 like (gene/pseudogene) [Gene - OMIM - HGNC]
• AKR7A2:aldo-keto reductase family 7 member A2 [Gene - OMIM - HGNC]
• AKR7A3:aldo-keto reductase family 7 member A3 [Gene - OMIM - HGNC]
• ALPL:alkaline phosphatase, biomineralization associated [Gene - OMIM - HGNC]
• FUCA1:alpha-L-fucosidase 1 [Gene - OMIM - HGNC]
• CAMK2N1:calcium/calmodulin dependent protein kinase II inhibitor 1 [Gene - OMIM - HGNC]
• CNR2:cannabinoid receptor 2 [Gene - OMIM - HGNC]
• CAPZB:capping actin protein of muscle Z-line subunit beta [Gene - OMIM - HGNC]
• CDC42:cell division cycle 42 [Gene - OMIM - HGNC]
• CELA3A:chymotrypsin like elastase 3A [Gene - OMIM - HGNC]
• CELA3B:chymotrypsin like elastase 3B [Gene - OMIM - HGNC]
• C1QA:complement C1q A chain [Gene - OMIM - HGNC]
• C1QB:complement C1q B chain [Gene - OMIM - HGNC]
• C1QC:complement C1q C chain [Gene - OMIM - HGNC]
• CDA:cytidine deaminase [Gene - OMIM - HGNC]
• DDOST:dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit [Gene - OMIM - HGNC]
• ELOA:elongin A [Gene - OMIM - HGNC]
• ECE1:endothelin converting enzyme 1 [Gene - OMIM - HGNC]
• EIF4G3:eukaryotic translation initiation factor 4 gamma 3 [Gene - OMIM - HGNC]
• FAM43B:family with sequence similarity 43 member B [Gene - HGNC]
• GRHL3:grainyhead like transcription factor 3 [Gene - OMIM - HGNC]
• HSPG2:heparan sulfate proteoglycan 2 [Gene - OMIM - HGNC]
• HP1BP3:heterochromatin protein 1 binding protein 3 [Gene - OMIM - HGNC]
• HNRNPR:heterogeneous nuclear ribonucleoprotein R [Gene - OMIM - HGNC]
• IGSF21:immunoglobin superfamily member 21 [Gene - HGNC]
• ID3:inhibitor of DNA binding 3 [Gene - OMIM - HGNC]
• IFNLR1:interferon lambda receptor 1 [Gene - OMIM - HGNC]
• IL22RA1:interleukin 22 receptor subunit alpha 1 [Gene - OMIM - HGNC]
• IFFO2:intermediate filament family orphan 2 [Gene - HGNC]
• KLHDC7A:kelch domain containing 7A [Gene - HGNC]
• KIF17:kinesin family member 17 [Gene - OMIM - HGNC]
• LACTBL1:lactamase beta like 1 [Gene - HGNC]
• LUZP1:leucine zipper protein 1 [Gene - OMIM - HGNC]
• LDLRAD2:low density lipoprotein receptor class A domain containing 2 [Gene - HGNC]
• KDM1A:lysine demethylase 1A [Gene - OMIM - HGNC]
• LYPLA2:lysophospholipase 2 [Gene - OMIM - HGNC]
• MUL1:mitochondrial E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
• MICOS10:mitochondrial contact site and cristae organizing system subunit 10 [Gene - OMIM - HGNC]
• MDS2:myelodysplastic syndrome 2 translocation associated [Gene - OMIM - HGNC]
• MYOM3:myomesin 3 [Gene - OMIM - HGNC]
• PAX7:paired box 7 [Gene - OMIM - HGNC]
• PADI1:peptidyl arginine deiminase 1 [Gene - OMIM - HGNC]
• PADI3:peptidyl arginine deiminase 3 [Gene - OMIM - HGNC]
• PADI4:peptidyl arginine deiminase 4 [Gene - OMIM - HGNC]
• PADI6:peptidyl arginine deiminase 6 [Gene - OMIM - HGNC]
• PLA2G2A:phospholipase A2 group IIA [Gene - OMIM - HGNC]
• PLA2G2C:phospholipase A2 group IIC [Gene - HGNC]
• PLA2G2D:phospholipase A2 group IID [Gene - OMIM - HGNC]
• PLA2G2E:phospholipase A2 group IIE [Gene - OMIM - HGNC]
• PLA2G2F:phospholipase A2 group IIF [Gene - OMIM - HGNC]
• PLA2G5:phospholipase A2 group V [Gene - OMIM - HGNC]
• PNRC2:proline rich nuclear receptor coactivator 2 [Gene - OMIM - HGNC]
• RCC2:regulator of chromosome condensation 2 [Gene - OMIM - HGNC]
• RPL11:ribosomal protein L11 [Gene - OMIM - HGNC]
• RNF186:ring finger protein 186 [Gene - OMIM - HGNC]
• SRSF10:serine and arginine rich splicing factor 10 [Gene - OMIM - HGNC]
• SLC66A1:solute carrier family 66 member 1 [Gene - OMIM - HGNC]
• STPG1:sperm tail PG-rich repeat containing 1 [Gene - OMIM - HGNC]
• TAS1R2:taste 1 receptor member 2 [Gene - OMIM - HGNC]
• TEX46:testis expressed 46 [Gene - HGNC]
• TCEA3:transcription elongation factor A3 [Gene - OMIM - HGNC]
• TMCO4:transmembrane and coiled-coil domains 4 [Gene - HGNC]
• UBR4:ubiquitin protein ligase E3 component n-recognin 4 [Gene - OMIM - HGNC]
• USP48:ubiquitin specific peptidase 48 [Gene - OMIM - HGNC]
• VWA5B1:von Willebrand factor A domain containing 5B1 [Gene - HGNC]
• ZBTB40:zinc finger and BTB domain containing 40 [Gene - OMIM - HGNC]
• ZNF436:zinc finger protein 436 [Gene - OMIM - HGNC]

Variant type:

Complex

Cytogenetic location:

1p36.13-36.11

Genomic location:

Chr1: 17555508 - 24706269 (on Assembly GRCh37)

Preferred name:

chr1:17555508-24706269 complex variant