ClinVar

GRCh37/hg19 Xq22.1(chrX:100183898-100809683)x4

Genes:

• ARL13A:ADP ribosylation factor like GTPase 13A [Gene - HGNC]
• BTK:Bruton tyrosine kinase [Gene - OMIM - HGNC]
• RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
• TAF7L:TATA-box binding protein associated factor 7 like [Gene - OMIM - HGNC]
• ARMCX1:armadillo repeat containing X-linked 1 [Gene - OMIM - HGNC]
• ARMCX4:armadillo repeat containing X-linked 4 [Gene - OMIM - HGNC]
• CENPI:centromere protein I [Gene - OMIM - HGNC]
• DRP2:dystrophin related protein 2 [Gene - OMIM - HGNC]
• GLA:galactosidase alpha [Gene - OMIM - HGNC]
• HNRNPH2:heterogeneous nuclear ribonucleoprotein H2 [Gene - OMIM - HGNC]
• RPL36A:ribosomal protein L36a [Gene - OMIM - HGNC]
• TRMT2B:tRNA methyltransferase 2 homolog B [Gene - HGNC]
• TIMM8A:translocase of inner mitochondrial membrane 8A [Gene - OMIM - HGNC]
• TMEM35A:transmembrane protein 35A [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

Xq22.1

Genomic location:

ChrX: 100183898 - 100809683 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 Xq22.1(chrX:100183898-100809683)x4

HGVS:

This HGVS expression did not pass validation

Observations:

1