ClinVar

GRCh37/hg19 2q22.2-23.3(chr2:143258712-152867819)

Genes:

• ARL5A:ADP ribosylation factor like GTPase 5A [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]
• ARHGAP15:Rho GTPase activating protein 15 [Gene - OMIM - 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]
• EPC2:enhancer of polycomb homolog 2 [Gene - OMIM - HGNC]
• GTDC1:glycosyltransferase like domain containing 1 [Gene - OMIM - HGNC]
• KYNU:kynureninase [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]
• ORC4:origin recognition complex subunit 4 [Gene - OMIM - HGNC]
• RIF1:replication timing regulatory factor 1 [Gene - OMIM - HGNC]
• ZEB2:zinc finger E-box binding homeobox 2 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

2q22.2-23.3

Genomic location:

Chr2: 143258712 - 152867819 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 2q22.2-23.3(chr2:143258712-152867819)

HGVS:

NC_000002.11:g.(?_143258712)_(152867819_?)del

This HGVS expression did not pass validation

Observations:

1