ClinVar

GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1

Genes:

• AFG1L:AFG1 like ATPase [Gene - OMIM - HGNC]
• BEND3:BEN domain containing 3 [Gene - OMIM - HGNC]
• CD164:CD164 molecule [Gene - OMIM - HGNC]
• FBXL4:F-box and leucine rich repeat protein 4 [Gene - OMIM - HGNC]
• GPR63:G protein-coupled receptor 63 [Gene - OMIM - HGNC]
• HACE1:HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
• MMS22L:MMS22 like, DNA repair protein [Gene - OMIM - HGNC]
• NDUFAF4:NADH:ubiquinone oxidoreductase complex assembly factor 4 [Gene - OMIM - HGNC]
• PNISR:PNN interacting serine and arginine rich protein [Gene - OMIM - HGNC]
• POU3F2:POU class 3 homeobox 2 [Gene - OMIM - HGNC]
• PRDM13:PR/SET domain 13 [Gene - OMIM - HGNC]
• PRDM1:PR/SET domain 1 [Gene - OMIM - HGNC]
• SEC63:SEC63 homolog, protein translocation regulator [Gene - OMIM - HGNC]
• SIM1:SIM bHLH transcription factor 1 [Gene - OMIM - HGNC]
• SCML4:Scm polycomb group protein like 4 [Gene - HGNC]
• UFL1:UFM1 specific ligase 1 [Gene - OMIM - HGNC]
• ASCC3:activating signal cointegrator 1 complex subunit 3 [Gene - OMIM - HGNC]
• AK9:adenylate kinase 9 [Gene - OMIM - HGNC]
• ARMC2:armadillo repeat containing 2 [Gene - OMIM - HGNC]
• ATG5:autophagy related 5 [Gene - OMIM - HGNC]
• BVES:blood vessel epicardial substance [Gene - OMIM - HGNC]
• CEP57L1:centrosomal protein 57 like 1 [Gene - HGNC]
• COQ3:coenzyme Q3, methyltransferase [Gene - OMIM - HGNC]
• CRYBG1:crystallin beta-gamma domain containing 1 [Gene - OMIM - HGNC]
• CCNC:cyclin C [Gene - OMIM - HGNC]
• PDSS2:decaprenyl diphosphate synthase subunit 2 [Gene - OMIM - HGNC]
• FAXC:failed axon connections homolog, metaxin like GST domain containing [Gene - HGNC]
• FOXO3:forkhead box O3 [Gene - OMIM - HGNC]
• FHL5:four and a half LIM domains 5 [Gene - OMIM - HGNC]
• FUT9:fucosyltransferase 9 [Gene - OMIM - HGNC]
• GRIK2:glutamate ionotropic receptor kainate type subunit 2 [Gene - OMIM - HGNC]
• QRSL1:glutaminyl-tRNA amidotransferase subunit QRSL1 [Gene - OMIM - HGNC]
• KLHL32:kelch like family member 32 [Gene - HGNC]
• LIN28B:lin-28 homolog B [Gene - OMIM - HGNC]
• MANEA:mannosidase endo-alpha [Gene - OMIM - HGNC]
• MCHR2:melanin concentrating hormone receptor 2 [Gene - OMIM - HGNC]
• MICAL1:microtubule associated monooxygenase, calponin and LIM domain containing 1 [Gene - OMIM - HGNC]
• MTRES1:mitochondrial transcription rescue factor 1 [Gene - OMIM - HGNC]
• NR2E1:nuclear receptor subfamily 2 group E member 1 [Gene - OMIM - HGNC]
• OSTM1:osteoclastogenesis associated transmembrane protein 1 [Gene - OMIM - HGNC]
• PPIL6:peptidylprolyl isomerase like 6 [Gene - HGNC]
• POPDC3:popeye domain containing 3 [Gene - OMIM - HGNC]
• PREP:prolyl endopeptidase [Gene - OMIM - HGNC]
• RTN4IP1:reticulon 4 interacting protein 1 [Gene - OMIM - HGNC]
• SESN1:sestrin 1 [Gene - OMIM - HGNC]
• SOBP:sine oculis binding protein homolog [Gene - OMIM - HGNC]
• SNX3:sorting nexin 3 [Gene - OMIM - HGNC]
• SMPD2:sphingomyelin phosphodiesterase 2 [Gene - OMIM - HGNC]
• TSTD3:thiosulfate sulfurtransferase like domain containing 3 [Gene - HGNC]
• USP45:ubiquitin specific peptidase 45 [Gene - OMIM - HGNC]
• ZBTB24:zinc finger and BTB domain containing 24 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

6q16.1-21

Genomic location:

Chr6: 94202605 - 109878834 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1

HGVS:

NC_000006.11:g.(?_94202605)_(109878834_?)del

This HGVS expression did not pass validation

Links:

dbVar: nssv13648959; dbVar: nsv2777953

Observations:

1