ClinVar

GRCh37/hg19 22q13.1-13.2(chr22:39935185-41752098)x1

Genes:

• DNAJB7:DnaJ heat shock protein family (Hsp40) member B7 [Gene - OMIM - HGNC]
• EP300:E1A binding protein p300 [Gene - OMIM - HGNC]
• ENTHD1:ENTH domain containing 1 [Gene - HGNC]
• GRAP2:GRB2 related adaptor protein 2 [Gene - OMIM - HGNC]
• L3MBTL2:L3MBTL histone methyl-lysine binding protein 2 [Gene - OMIM - HGNC]
• L3MBTL2-AS1:L3MBTL2 antisense RNA 1 [Gene - HGNC]
• RANGAP1:Ran GTPase activating protein 1 [Gene - OMIM - HGNC]
• ST13:ST13 Hsp70 interacting protein [Gene - OMIM - HGNC]
• XPNPEP3:X-prolyl aminopeptidase 3 [Gene - OMIM - HGNC]
• ADSL:adenylosuccinate lyase [Gene - OMIM - HGNC]
• CACNA1I:calcium voltage-gated channel subunit alpha1 I [Gene - OMIM - HGNC]
• CHADL:chondroadherin like [Gene - OMIM - HGNC]
• FAM83F:family with sequence similarity 83 member F [Gene - HGNC]
• MCHR1:melanin concentrating hormone receptor 1 [Gene - OMIM - HGNC]
• MRTFA:myocardin related transcription factor A [Gene - OMIM - HGNC]
• RBX1:ring-box 1 [Gene - OMIM - HGNC]
• SGSM3:small G protein signaling modulator 3 [Gene - OMIM - HGNC]
• SLC25A17:solute carrier family 25 member 17 [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 loss

Cytogenetic location:

22q13.1-13.2

Genomic location:

Chr22: 39935185 - 41752098 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 22q13.1-13.2(chr22:39935185-41752098)x1

HGVS:

This HGVS expression did not pass validation

Observations:

1