ClinVar

GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1

Genes:

• ARL5A:ADP ribosylation factor like GTPase 5A [Gene - OMIM - HGNC]
• ARL6IP6:ADP ribosylation factor like GTPase 6 interacting protein 6 [Gene - OMIM - HGNC]
• LYPD6:LY6/PLAUR domain containing 6 [Gene - OMIM - HGNC]
• LYPD6B:LY6/PLAUR domain containing 6B [Gene - HGNC]
• NMI:N-myc and STAT interactor [Gene - OMIM - HGNC]
• RBM43:RNA binding motif protein 43 [Gene - HGNC]
• RND3:Rho family GTPase 3 [Gene - OMIM - HGNC]
• TNFAIP6:TNF alpha induced protein 6 [Gene - OMIM - HGNC]
• ACVR2A:activin A receptor type 2A [Gene - OMIM - HGNC]
• CACNB4:calcium voltage-gated channel auxiliary subunit beta 4 [Gene - OMIM - HGNC]
• CYTIP:cytohesin 1 interacting protein [Gene - OMIM - HGNC]
• EPC2:enhancer of polycomb homolog 2 [Gene - OMIM - HGNC]
• ERMN:ermin [Gene - OMIM - HGNC]
• FMNL2:formin like 2 [Gene - OMIM - HGNC]
• GPD2:glycerol-3-phosphate dehydrogenase 2 [Gene - OMIM - HGNC]
• MMADHC:metabolism of cobalamin associated D [Gene - OMIM - HGNC]
• MBD5:methyl-CpG binding domain protein 5 [Gene - OMIM - HGNC]
• NEB:nebulin [Gene - OMIM - HGNC]
• NR4A2:nuclear receptor subfamily 4 group A member 2 [Gene - OMIM - HGNC]
• ORC4:origin recognition complex subunit 4 [Gene - OMIM - HGNC]
• GALNT13:polypeptide N-acetylgalactosaminyltransferase 13 [Gene - OMIM - HGNC]
• GALNT5:polypeptide N-acetylgalactosaminyltransferase 5 [Gene - OMIM - HGNC]
• KCNJ3:potassium inwardly rectifying channel subfamily J member 3 [Gene - OMIM - HGNC]
• PRPF40A:pre-mRNA processing factor 40 homolog A [Gene - OMIM - HGNC]
• RIF1:replication timing regulatory factor 1 [Gene - OMIM - HGNC]
• RPRM:reprimo, TP53 dependent G2 arrest mediator homolog [Gene - OMIM - HGNC]
• STAM2:signal transducing adaptor molecule 2 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

2q22.3-24.1

Genomic location:

Chr2: 147173792 - 158346266 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1

HGVS:

NC_000002.11:g.(?_147173792)_(158346266_?)del

This HGVS expression did not pass validation