ClinVar

GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1

Genes:

• ATP10A:ATPase phospholipid transporting 10A (putative) [Gene - OMIM - HGNC]
• CDIN1:CDAN1 interacting nuclease 1 [Gene - OMIM - HGNC]
• CHRFAM7A:CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion [Gene - OMIM - HGNC]
• EMC4:ER membrane protein complex subunit 4 [Gene - OMIM - HGNC]
• EMC7:ER membrane protein complex subunit 7 [Gene - OMIM - HGNC]
• FAN1:FANCD2 and FANCI associated nuclease 1 [Gene - OMIM - HGNC]
• HERC2:HECT and RLD domain containing E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
• KLF13:KLF transcription factor 13 [Gene - OMIM - HGNC]
• MAGEL2:MAGE family member L2 [Gene - OMIM - HGNC]
• MEIS2:Meis homeobox 2 [Gene - OMIM - HGNC]
• NIPA1:NIPA magnesium transporter 1 [Gene - OMIM - HGNC]
• NIPA2:NIPA magnesium transporter 2 [Gene - OMIM - HGNC]
• NOP10:NOP10 ribonucleoprotein [Gene - OMIM - HGNC]
• NSMCE3:NSE3 homolog, SMC5-SMC6 complex component [Gene - OMIM - HGNC]
• NUTM1:NUT midline carcinoma family member 1 [Gene - OMIM - HGNC]
• OCA2:OCA2 melanosomal transmembrane protein [Gene - OMIM - HGNC]
• OTUD7A:OTU deubiquitinase 7A [Gene - OMIM - HGNC]
• PWAR1:Prader Willi/Angelman region RNA 1 [Gene - OMIM - HGNC]
• PWAR4:Prader Willi/Angelman region RNA 4 [Gene - HGNC]
• PWAR5:Prader Willi/Angelman region RNA 5 [Gene - OMIM - HGNC]
• PWAR6:Prader Willi/Angelman region RNA 6 [Gene - HGNC]
• PWARSN:Prader Willi/Angelman region RNA, SNRPN neighbor [Gene - HGNC]
• PWRN1:Prader-Willi region non-protein coding RNA 1 [Gene - OMIM - HGNC]
• PWRN2:Prader-Willi region non-protein coding RNA 2 [Gene - OMIM - HGNC]
• RASGRP1:RAS guanyl releasing protein 1 [Gene - OMIM - HGNC]
• ARHGAP11A:Rho GTPase activating protein 11A [Gene - OMIM - HGNC]
• ARHGAP11B:Rho GTPase activating protein 11B [Gene - OMIM - HGNC]
• SNURF:SNRPN upstream open reading frame [Gene - HGNC]
• ACTC1:actin alpha cardiac muscle 1 [Gene - OMIM - HGNC]
• APBA2:amyloid beta precursor protein binding family A member 2 [Gene - OMIM - HGNC]
• AVEN:apoptosis and caspase activation inhibitor [Gene - OMIM - HGNC]
• AQR:aquarius intron-binding spliceosomal factor [Gene - OMIM - HGNC]
• CHRM5:cholinergic receptor muscarinic 5 [Gene - OMIM - HGNC]
• CHRNA7:cholinergic receptor nicotinic alpha 7 subunit [Gene - OMIM - HGNC]
• CYFIP1:cytoplasmic FMR1 interacting protein 1 [Gene - OMIM - HGNC]
• DPH6:diphthamine biosynthesis 6 [Gene - OMIM - HGNC]
• ENTREP2:endosomal transmembrane epsin interactor 2 [Gene - OMIM - HGNC]
• FAM98B:family with sequence similarity 98 member B [Gene - OMIM - HGNC]
• GABRA5:gamma-aminobutyric acid type A receptor subunit alpha5 [Gene - OMIM - HGNC]
• GABRB3:gamma-aminobutyric acid type A receptor subunit beta3 [Gene - OMIM - HGNC]
• GABRG3:gamma-aminobutyric acid type A receptor subunit gamma3 [Gene - OMIM - HGNC]
• GJD2:gap junction protein delta 2 [Gene - OMIM - HGNC]
• GOLGA6L2:golgin A6 family like 2 [Gene - HGNC]
• GOLGA8A:golgin A8 family member A [Gene - OMIM - HGNC]
• GOLGA8B:golgin A8 family member B [Gene - OMIM - HGNC]
• GOLGA8H:golgin A8 family member H [Gene - HGNC]
• GOLGA8J:golgin A8 family member J [Gene - HGNC]
• GOLGA8M:golgin A8 family member M [Gene - HGNC]
• GOLGA8N:golgin A8 family member N [Gene - HGNC]
• GOLGA8O:golgin A8 family member O [Gene - HGNC]
• GREM1:gremlin 1, DAN family BMP antagonist [Gene - OMIM - HGNC]
• IPW:imprinted in Prader-Willi syndrome [Gene - OMIM - HGNC]
• KATNBL1:katanin regulatory subunit B1 like 1 [Gene - OMIM - HGNC]
• LINC02694:long intergenic non-protein coding RNA 2694 [Gene - HGNC]
• LPCAT4:lysophosphatidylcholine acyltransferase 4 [Gene - OMIM - HGNC]
• MKRN3:makorin ring finger protein 3 [Gene - OMIM - HGNC]
• MIR211:microRNA 211 [Gene - OMIM - HGNC]
• MTMR10:myotubularin related protein 10 [Gene - HGNC]
• NDN:necdin, MAGE family member [Gene - OMIM - HGNC]
• NPAP1:nuclear pore associated protein 1 [Gene - OMIM - HGNC]
• PGBD4:piggyBac transposable element derived 4 [Gene - HGNC]
• RYR3:ryanodine receptor 3 [Gene - OMIM - HGNC]
• SCG5:secretogranin V [Gene - OMIM - HGNC]
• SNRPN:small nuclear ribonucleoprotein polypeptide N [Gene - OMIM - HGNC]
• SNORD115-1:small nucleolar RNA, C/D box 115-1 [Gene - OMIM - HGNC]
• SNORD116-1:small nucleolar RNA, C/D box 116-1 [Gene - OMIM - HGNC]
• SLC12A6:solute carrier family 12 member 6 [Gene - OMIM - HGNC]
• SPRED1:sprouty related EVH1 domain containing 1 [Gene - OMIM - HGNC]
• TJP1:tight junction protein 1 [Gene - OMIM - HGNC]
• TRPM1:transient receptor potential cation channel subfamily M member 1 [Gene - OMIM - HGNC]
• TMCO5A:transmembrane and coiled-coil domains 5A [Gene - HGNC]
• TUBGCP5:tubulin gamma complex component 5 [Gene - OMIM - HGNC]
• UBE3A:ubiquitin protein ligase E3A [Gene - OMIM - HGNC]
• ZNF770:zinc finger protein 770 [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

15q11.2-14

Genomic location:

Chr15: 22836883 - 39108014 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1

HGVS:

This HGVS expression did not pass validation

Observations:

1