ClinVar

GRCh37/hg19 18p11.32-q11.1(chr18:136226-18521285)x4

Genes:

• AKAIN1:A-kinase anchor inhibitor 1 [Gene - OMIM - HGNC]
• AFG3L2:AFG3 like matrix AAA peptidase subunit 2 [Gene - OMIM - HGNC]
• APCDD1:APC down-regulated 1 [Gene - OMIM - HGNC]
• DLGAP1:DLG associated protein 1 [Gene - OMIM - HGNC]
• DLGAP1-AS2:DLGAP1 antisense RNA 2 [Gene - HGNC]
• GNAL:G protein subunit alpha L [Gene - OMIM - HGNC]
• L3MBTL4:L3MBTL histone methyl-lysine binding protein 4 [Gene - OMIM - HGNC]
• NDUFV2:NADH:ubiquinone oxidoreductase core subunit V2 [Gene - OMIM - HGNC]
• NDC80:NDC80 kinetochore complex component [Gene - OMIM - HGNC]
• NAPG:NSF attachment protein gamma [Gene - OMIM - HGNC]
• POTEC:POTE ankyrin domain family member C [Gene - HGNC]
• PRELID3A:PRELI domain containing 3A [Gene - OMIM - HGNC]
• RAB12:RAB12, member RAS oncogene family [Gene - OMIM - HGNC]
• RAB31:RAB31, member RAS oncogene family [Gene - OMIM - HGNC]
• RNMT:RNA guanine-7 methyltransferase [Gene - OMIM - HGNC]
• ARHGAP28:Rho GTPase activating protein 28 [Gene - OMIM - HGNC]
• SEH1L:SEH1 like nucleoporin [Gene - OMIM - HGNC]
• TGIF1:TGFB induced factor homeobox 1 [Gene - OMIM - HGNC]
• THOC1:THO complex subunit 1 [Gene - OMIM - HGNC]
• TYMSOS:TYMS opposite strand RNA [Gene - HGNC]
• VAPA:VAMP associated protein A [Gene - OMIM - HGNC]
• YES1:YES proto-oncogene 1, Src family tyrosine kinase [Gene - OMIM - HGNC]
• ADCYAP1:adenylate cyclase activating polypeptide 1 [Gene - OMIM - HGNC]
• ANKRD12:ankyrin repeat domain 12 [Gene - OMIM - HGNC]
• ANKRD30B:ankyrin repeat domain 30B [Gene - OMIM - HGNC]
• ANKRD62:ankyrin repeat domain 62 [Gene - HGNC]
• CIDEA:cell death inducing DFFA like effector a [Gene - OMIM - HGNC]
• CETN1:centrin 1 [Gene - OMIM - HGNC]
• CEP192:centrosomal protein 192 [Gene - OMIM - HGNC]
• CEP76:centrosomal protein 76 [Gene - OMIM - HGNC]
• CHMP1B:charged multivesicular body protein 1B [Gene - OMIM - HGNC]
• CLUL1:clusterin like 1 [Gene - OMIM - HGNC]
• COLEC12:collectin subfamily member 12 [Gene - OMIM - HGNC]
• EMILIN2:elastin microfibril interfacer 2 [Gene - OMIM - HGNC]
• ENOSF1:enolase superfamily member 1 [Gene - OMIM - HGNC]
• EPB41L3:erythrocyte membrane protein band 4.1 like 3 [Gene - OMIM - HGNC]
• FAM210A:family with sequence similarity 210 member A [Gene - OMIM - HGNC]
• IMPA2:inositol monophosphatase 2 [Gene - OMIM - HGNC]
• LAMA1:laminin subunit alpha 1 [Gene - OMIM - HGNC]
• LRRC30:leucine rich repeat containing 30 [Gene - HGNC]
• LPIN2:lipin 2 [Gene - OMIM - HGNC]
• LDLRAD4:low density lipoprotein receptor class A domain containing 4 [Gene - OMIM - HGNC]
• MC2R:melanocortin 2 receptor [Gene - OMIM - HGNC]
• MC5R:melanocortin 5 receptor [Gene - OMIM - HGNC]
• MPPE1:metallophosphoesterase 1 [Gene - OMIM - HGNC]
• METTL4:methyltransferase 4, N6-adenosine [Gene - OMIM - HGNC]
• MTCL1:microtubule crosslinking factor 1 [Gene - OMIM - HGNC]
• MYOM1:myomesin 1 [Gene - OMIM - HGNC]
• MYL12A:myosin light chain 12A [Gene - HGNC]
• MYL12B:myosin light chain 12B [Gene - OMIM - HGNC]
• PIEZO2:piezo type mechanosensitive ion channel component 2 [Gene - OMIM - HGNC]
• PSMG2:proteasome assembly chaperone 2 [Gene - OMIM - HGNC]
• PPP4R1:protein phosphatase 4 regulatory subunit 1 [Gene - OMIM - HGNC]
• PTPN2:protein tyrosine phosphatase non-receptor type 2 [Gene - OMIM - HGNC]
• PTPRM:protein tyrosine phosphatase receptor type M [Gene - OMIM - HGNC]
• RALBP1:ralA binding protein 1 [Gene - OMIM - HGNC]
• SLC35G4:solute carrier family 35 member G4 [Gene - HGNC]
• SPIRE1:spire type actin nucleation factor 1 [Gene - OMIM - HGNC]
• SMCHD1:structural maintenance of chromosomes flexible hinge domain containing 1 [Gene - OMIM - HGNC]
• TXNDC2:thioredoxin domain containing 2 [Gene - OMIM - HGNC]
• TYMS:thymidylate synthetase [Gene - OMIM - HGNC]
• TMEM200C:transmembrane protein 200C [Gene - HGNC]
• TUBB6:tubulin beta 6 class V [Gene - OMIM - HGNC]
• TWSG1:twisted gastrulation BMP signaling modulator 1 [Gene - OMIM - HGNC]
• USP14:ubiquitin specific peptidase 14 [Gene - OMIM - HGNC]
• ZBTB14:zinc finger and BTB domain containing 14 [Gene - OMIM - HGNC]
• ZNF519:zinc finger protein 519 [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

18p11.32-q11.1

Genomic location:

Chr18: 136226 - 18521285 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 18p11.32-q11.1(chr18:136226-18521285)x4

HGVS:

This HGVS expression did not pass validation

Links:

dbVar: nssv13655671; dbVar: nsv2774786

Observations:

1