ClinVar

GRCh37/hg19 22q11.1-11.21(chr22:16888899-18649190)x3

Genes:

• ATP6V1E1:ATPase H+ transporting V1 subunit E1 [Gene - OMIM - HGNC]
• BCL2L13:BCL2 like 13 [Gene - OMIM - HGNC]
• BID:BH3 interacting domain death agonist [Gene - OMIM - HGNC]
• CECR2:CECR2 histone acetyl-lysine reader [Gene - OMIM - HGNC]
• GAB4:GRB2 associated binding protein family member 4 [Gene - HGNC]
• XKR3:XK related 3 [Gene - OMIM - HGNC]
• ADA2:adenosine deaminase 2 [Gene - OMIM - HGNC]
• CECR3:cat eye syndrome chromosome region, candidate 3 [Gene - HGNC]
• CCT8L2:chaperonin containing TCP1 subunit 8 like 2 [Gene - HGNC]
• HDHD5:haloacid dehalogenase like hydrolase domain containing 5 [Gene - HGNC]
• IL17RA:interleukin 17 receptor A [Gene - OMIM - HGNC]
• MICAL3:microtubule associated monooxygenase, calponin and LIM domain containing 3 [Gene - OMIM - HGNC]
• PEX26:peroxisomal biogenesis factor 26 [Gene - OMIM - HGNC]
• SLC25A18:solute carrier family 25 member 18 [Gene - OMIM - HGNC]
• TMEM121B:transmembrane protein 121B [Gene - HGNC]
• TUBA8:tubulin alpha 8 [Gene - OMIM - HGNC]
• USP18:ubiquitin specific peptidase 18 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

22q11.1-11.21

Genomic location:

Chr22: 16888899 - 18649190 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 22q11.1-11.21(chr22:16888899-18649190)x3

HGVS:

This HGVS expression did not pass validation