ClinVar

GRCh37/hg19 16p11.2(chr16:29545794-30307472)x1

Genes:

• CDIPT:CDP-diacylglycerol--inositol 3-phosphatidyltransferase [Gene - OMIM - HGNC]
• HIRIP3:HIRA interacting protein 3 [Gene - OMIM - HGNC]
• INO80E:INO80 complex subunit E [Gene - HGNC]
• MAZ:MYC associated zinc finger protein [Gene - OMIM - HGNC]
• PAGR1:PAXIP1 associated glutamate rich protein 1 [Gene - OMIM - HGNC]
• SLX1A:SLX1 homolog A, structure-specific endonuclease subunit [Gene - OMIM - HGNC]
• TBX6:T-box transcription factor 6 [Gene - OMIM - HGNC]
• TAOK2:TAO kinase 2 [Gene - OMIM - HGNC]
• TLCD3B:TLC domain containing 3B [Gene - OMIM - HGNC]
• ALDOA:aldolase, fructose-bisphosphate A [Gene - OMIM - HGNC]
• ASPHD1:aspartate beta-hydroxylase domain containing 1 [Gene - HGNC]
• BOLA2B:bolA family member 2B [Gene - HGNC]
• C16orf54:chromosome 16 open reading frame 54 [Gene - HGNC]
• C16orf92:chromosome 16 open reading frame 92 [Gene - OMIM - HGNC]
• CORO1A:coronin 1A [Gene - OMIM - HGNC]
• DOC2A:double C2 domain alpha [Gene - OMIM - HGNC]
• GDPD3:glycerophosphodiester phosphodiesterase domain containing 3 [Gene - OMIM - HGNC]
• KIF22:kinesin family member 22 [Gene - OMIM - HGNC]
• MVP:major vault protein [Gene - OMIM - HGNC]
• MAPK3:mitogen-activated protein kinase 3 [Gene - OMIM - HGNC]
• KCTD13:potassium channel tetramerization domain containing 13 [Gene - OMIM - HGNC]
• PRRT2:proline rich transmembrane protein 2 [Gene - OMIM - HGNC]
• PPP4C:protein phosphatase 4 catalytic subunit [Gene - OMIM - HGNC]
• QPRT:quinolinate phosphoribosyltransferase [Gene - OMIM - HGNC]
• SEZ6L2:seizure related 6 homolog like 2 [Gene - OMIM - HGNC]
• SPN:sialophorin [Gene - OMIM - HGNC]
• SULT1A3:sulfotransferase family 1A member 3 [Gene - OMIM - HGNC]
• TMEM219:transmembrane protein 219 [Gene - HGNC]
• YPEL3:yippee like 3 [Gene - OMIM - HGNC]
• ZG16:zymogen granule protein 16 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

16p11.2

Genomic location:

Chr16: 29545794 - 30307472 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 16p11.2(chr16:29545794-30307472)x1

HGVS:

NC_000016.9:g.(29545794_?)_(?_30307472)del

This HGVS expression did not pass validation