ClinVar

GRCh37/hg19 17p11.2(chr17:16908991-18322254)x1

Genes:

• NT5M:5',3'-nucleotidase, mitochondrial [Gene - OMIM - HGNC]
• ATPAF2:ATP synthase mitochondrial F1 complex assembly factor 2 [Gene - OMIM - HGNC]
• COPS3:COP9 signalosome subunit 3 [Gene - OMIM - HGNC]
• TOP3A:DNA topoisomerase III alpha [Gene - OMIM - HGNC]
• FLII:FLII actin remodeling protein [Gene - OMIM - HGNC]
• GID4:GID complex subunit 4 homolog [Gene - OMIM - HGNC]
• LLGL1:LLGL scribble cell polarity complex component 1 [Gene - OMIM - HGNC]
• SMCR8:SMCR8-C9orf72 complex subunit [Gene - OMIM - HGNC]
• ALKBH5:alkB homolog 5, RNA demethylase [Gene - OMIM - HGNC]
• DRG2:developmentally regulated GTP binding protein 2 [Gene - OMIM - HGNC]
• DRC3:dynein regulatory complex subunit 3 [Gene - OMIM - HGNC]
• EVPLL:envoplakin like [Gene - HGNC]
• FLCN:folliculin [Gene - OMIM - HGNC]
• MED9:mediator complex subunit 9 [Gene - OMIM - HGNC]
• MIR33B:microRNA 33b [Gene - OMIM - HGNC]
• MIEF2:mitochondrial elongation factor 2 [Gene - OMIM - HGNC]
• MYO15A:myosin XVA [Gene - OMIM - HGNC]
• MPRIP:myosin phosphatase Rho interacting protein [Gene - OMIM - HGNC]
• PEMT:phosphatidylethanolamine N-methyltransferase [Gene - OMIM - HGNC]
• PLD6:phospholipase D family member 6 [Gene - OMIM - HGNC]
• RASD1:ras related dexamethasone induced 1 [Gene - OMIM - HGNC]
• RAI1:retinoic acid induced 1 [Gene - OMIM - HGNC]
• SHMT1:serine hydroxymethyltransferase 1 [Gene - OMIM - HGNC]
• SREBF1:sterol regulatory element binding transcription factor 1 [Gene - OMIM - HGNC]
• TOM1L2:target of myb1 like 2 membrane trafficking protein [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

17p11.2

Genomic location:

Chr17: 16908991 - 18322254 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 17p11.2(chr17:16908991-18322254)x1

HGVS:

NC_000017.10:g.(?_16908991)_(18322254_?)del

This HGVS expression did not pass validation

Observations:

1