ClinVar

GRCh37/hg19 17p11.2(chr17:16741411-20410218)x1

Genes:

• NT5M:5',3'-nucleotidase, mitochondrial [Gene - OMIM - HGNC]
• AKAP10:A-kinase anchoring protein 10 [Gene - OMIM - HGNC]
• ATPAF2:ATP synthase mitochondrial F1 complex assembly factor 2 [Gene - OMIM - HGNC]
• B9D1:B9 domain containing 1 [Gene - OMIM - HGNC]
• COPS3:COP9 signalosome subunit 3 [Gene - OMIM - HGNC]
• TOP3A:DNA topoisomerase III alpha [Gene - OMIM - HGNC]
• FBXW10:F-box and WD repeat domain containing 10 [Gene - OMIM - HGNC]
• FLII:FLII actin remodeling protein [Gene - OMIM - HGNC]
• GID4:GID complex subunit 4 homolog [Gene - OMIM - HGNC]
• GRAPL:GRB2 related adaptor protein like [Gene - HGNC]
• GRAP:GRB2 related adaptor protein [Gene - OMIM - HGNC]
• LLGL1:LLGL scribble cell polarity complex component 1 [Gene - OMIM - HGNC]
• SMCR8:SMCR8-C9orf72 complex subunit [Gene - OMIM - HGNC]
• TBC1D28:TBC1 domain family member 28 [Gene - HGNC]
• TNFRSF13B:TNF receptor superfamily member 13B [Gene - OMIM - HGNC]
• ALDH3A1:aldehyde dehydrogenase 3 family member A1 [Gene - OMIM - HGNC]
• ALDH3A2:aldehyde dehydrogenase 3 family member A2 [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]
• EPN2:epsin 2 [Gene - OMIM - HGNC]
• FAM83G:family with sequence similarity 83 member G [Gene - OMIM - HGNC]
• FLCN:folliculin [Gene - OMIM - HGNC]
• LGALS9B:galectin 9B [Gene - HGNC]
• LGALS9C:galectin 9C [Gene - HGNC]
• MED9:mediator complex subunit 9 [Gene - OMIM - HGNC]
• MIR33B:microRNA 33b [Gene - OMIM - HGNC]
• MFAP4:microfibril associated protein 4 [Gene - OMIM - HGNC]
• MIEF2:mitochondrial elongation factor 2 [Gene - OMIM - HGNC]
• MAPK7:mitogen-activated protein kinase 7 [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]
• PRPSAP2:phosphoribosyl pyrophosphate synthetase associated protein 2 [Gene - OMIM - HGNC]
• RASD1:ras related dexamethasone induced 1 [Gene - OMIM - HGNC]
• RAI1:retinoic acid induced 1 [Gene - OMIM - HGNC]
• RNF112:ring finger protein 112 [Gene - OMIM - HGNC]
• SHMT1:serine hydroxymethyltransferase 1 [Gene - OMIM - HGNC]
• SNORD3A:small nucleolar RNA, C/D box 3A [Gene - OMIM - HGNC]
• SLC47A1:solute carrier family 47 member 1 [Gene - OMIM - HGNC]
• SLC47A2:solute carrier family 47 member 2 [Gene - OMIM - HGNC]
• SLC5A10:solute carrier family 5 member 10 [Gene - OMIM - HGNC]
• SPECC1:sperm antigen with calponin homology and coiled-coil domains 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]
• TVP23B:trans-golgi network vesicle protein 23 homolog B [Gene - HGNC]
• TRIM16L:tripartite motif containing 16 like [Gene - HGNC]
• ULK2:unc-51 like autophagy activating kinase 2 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

17p11.2

Genomic location:

Chr17: 16741411 - 20410218 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 17p11.2(chr17:16741411-20410218)x1

HGVS:

NC_000017.10:g.(?_16741411)_(20410218_?)del

This HGVS expression did not pass validation

Links:

dbVar: nssv13641830; dbVar: nsv2773785

Observations:

1