ClinVar

GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3

Genes:

• DNAJB7:DnaJ heat shock protein family (Hsp40) member B7 [Gene - OMIM - HGNC]
• EP300:E1A binding protein p300 [Gene - OMIM - HGNC]
• L3MBTL2:L3MBTL histone methyl-lysine binding protein 2 [Gene - OMIM - HGNC]
• L3MBTL2-AS1:L3MBTL2 antisense RNA 1 [Gene - HGNC]
• PHF5A:PHD finger protein 5A [Gene - OMIM - HGNC]
• POLR3H:RNA polymerase III subunit H [Gene - OMIM - HGNC]
• RANGAP1:Ran GTPase activating protein 1 [Gene - OMIM - HGNC]
• ST13:ST13 Hsp70 interacting protein [Gene - OMIM - HGNC]
• TEF:TEF transcription factor, PAR bZIP family member [Gene - OMIM - HGNC]
• XPNPEP3:X-prolyl aminopeptidase 3 [Gene - OMIM - HGNC]
• XRCC6:X-ray repair cross complementing 6 [Gene - OMIM - HGNC]
• ACO2:aconitase 2 [Gene - OMIM - HGNC]
• ADSL:adenylosuccinate lyase [Gene - OMIM - HGNC]
• CHADL:chondroadherin like [Gene - OMIM - HGNC]
• CSDC2:cold shock domain containing C2 [Gene - OMIM - HGNC]
• DESI1:desumoylating isopeptidase 1 [Gene - OMIM - HGNC]
• MEI1:meiotic double-stranded break formation protein 1 [Gene - OMIM - HGNC]
• MCHR1:melanin concentrating hormone receptor 1 [Gene - OMIM - HGNC]
• MRTFA:myocardin related transcription factor A [Gene - OMIM - HGNC]
• PMM1:phosphomannomutase 1 [Gene - OMIM - HGNC]
• RBX1:ring-box 1 [Gene - OMIM - HGNC]
• SGSM3:small G protein signaling modulator 3 [Gene - OMIM - HGNC]
• SNU13:small nuclear ribonucleoprotein 13 [Gene - OMIM - HGNC]
• SLC25A17:solute carrier family 25 member 17 [Gene - OMIM - HGNC]
• TOB2:transducer of ERBB2, 2 [Gene - OMIM - HGNC]
• TNRC6B:trinucleotide repeat containing adaptor 6B [Gene - OMIM - HGNC]
• ZC3H7B:zinc finger CCCH-type containing 7B [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

22q13.1-13.2

Genomic location:

Chr22: 40545592 - 42096995 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3

HGVS:

This HGVS expression did not pass validation