ClinVar

GRCh37/hg19 22q11.23-12.1(chr22:24652837-25970705)x3

Genes:

• GRK3:G protein-coupled receptor kinase 3 [Gene - OMIM - HGNC]
• KIAA1671:KIAA1671 [Gene - HGNC]
• LHFPL7:LHFPL tetraspan subfamily member 7 [Gene - HGNC]
• ADORA2A:adenosine A2a receptor [Gene - OMIM - HGNC]
• UPB1:beta-ureidopropionase 1 [Gene - OMIM - HGNC]
• CRYBB2:crystallin beta B2 [Gene - OMIM - HGNC]
• CRYBB3:crystallin beta B3 [Gene - OMIM - HGNC]
• GGT1:gamma-glutamyltransferase 1 [Gene - OMIM - HGNC]
• GUCD1:guanylyl cyclase domain containing 1 [Gene - OMIM - HGNC]
• LRRC75B:leucine rich repeat containing 75B [Gene - HGNC]
• PIWIL3:piwi like RNA-mediated gene silencing 3 [Gene - OMIM - HGNC]
• SGSM1:small G protein signaling modulator 1 [Gene - OMIM - HGNC]
• SNRPD3:small nuclear ribonucleoprotein D3 polypeptide [Gene - OMIM - HGNC]
• SPECC1L:sperm antigen with calponin homology and coiled-coil domains 1 like [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

22q11.23-12.1

Genomic location:

Chr22: 24652837 - 25970705 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 22q11.23-12.1(chr22:24652837-25970705)x3

HGVS:

This HGVS expression did not pass validation