ClinVar

NC_000016.9:g.21530207_29332245del

Genes:

• ATP2A1:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 [Gene - OMIM - HGNC]
• CD19:CD19 molecule [Gene - OMIM - HGNC]
• CLN3:CLN3 lysosomal/endosomal transmembrane protein, battenin [Gene - OMIM - HGNC]
• GSG1L:GSG1 like [Gene - OMIM - HGNC]
• NDUFAB1:NADH:ubiquinone oxidoreductase subunit AB1 [Gene - OMIM - HGNC]
• NSMCE1:NSE1 homolog, SMC5-SMC6 complex component [Gene - OMIM - HGNC]
• PDZD9:PDZ domain containing 9 [Gene - HGNC]
• RBBP6:RB binding protein 6, ubiquitin ligase [Gene - OMIM - HGNC]
• POLR3E:RNA polymerase III subunit E [Gene - OMIM - HGNC]
• ARHGAP17:Rho GTPase activating protein 17 [Gene - OMIM - HGNC]
• SGF29:SAGA complex associated factor 29 [Gene - OMIM - HGNC]
• SH2B1:SH2B adaptor protein 1 [Gene - OMIM - HGNC]
• SBK1:SH3 domain binding kinase 1 [Gene - OMIM - HGNC]
• SPNS1:SPNS lysolipid transporter 1, lysophospholipid [Gene - OMIM - HGNC]
• TUFM:Tu translation elongation factor, mitochondrial [Gene - OMIM - HGNC]
• APOBR:apolipoprotein B receptor [Gene - OMIM - HGNC]
• AQP8:aquaporin 8 [Gene - OMIM - HGNC]
• ATXN2L:ataxin 2 like [Gene - OMIM - HGNC]
• CHP2:calcineurin like EF-hand protein 2 [Gene - HGNC]
• CACNG3:calcium voltage-gated channel auxiliary subunit gamma 3 [Gene - OMIM - HGNC]
• CDR2:cerebellar degeneration related protein 2 [Gene - OMIM - HGNC]
• C16orf82:chromosome 16 open reading frame 82 [Gene - HGNC]
• COG7:component of oligomeric golgi complex 7 [Gene - OMIM - HGNC]
• DCTN5:dynactin subunit 5 [Gene - OMIM - HGNC]
• ERN2:endoplasmic reticulum to nucleus signaling 2 [Gene - OMIM - HGNC]
• EEF2K:eukaryotic elongation factor 2 kinase [Gene - OMIM - HGNC]
• EIF3CL:eukaryotic translation initiation factor 3 subunit C like [Gene - HGNC]
• EIF3C:eukaryotic translation initiation factor 3 subunit C [Gene - OMIM - HGNC]
• XPO6:exportin 6 [Gene - OMIM - HGNC]
• GTF3C1:general transcription factor IIIC subunit 1 [Gene - OMIM - HGNC]
• EARS2:glutamyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
• GGA2:golgi associated, gamma adaptin ear containing, ARF binding protein 2 [Gene - OMIM - HGNC]
• HS3ST2:heparan sulfate-glucosamine 3-sulfotransferase 2 [Gene - OMIM - HGNC]
• HS3ST4:heparan sulfate-glucosamine 3-sulfotransferase 4 [Gene - OMIM - HGNC]
• IGSF6:immunoglobulin superfamily member 6 [Gene - OMIM - HGNC]
• IL21R:interleukin 21 receptor [Gene - OMIM - HGNC]
• IL27:interleukin 27 [Gene - OMIM - HGNC]
• IL4R:interleukin 4 receptor [Gene - OMIM - HGNC]
• KATNIP:katanin interacting protein [Gene - OMIM - HGNC]
• LCMT1:leucine carboxyl methyltransferase 1 [Gene - OMIM - HGNC]
• LAT:linker for activation of T cells [Gene - OMIM - HGNC]
• KDM8:lysine demethylase 8 [Gene - OMIM - HGNC]
• METTL9:methyltransferase like 9 [Gene - OMIM - HGNC]
• MOSMO:modulator of smoothened [Gene - HGNC]
• NFATC2IP:nuclear factor of activated T cells 2 interacting protein [Gene - OMIM - HGNC]
• NPIPB4:nuclear pore complex interacting protein family member B4 [Gene - HGNC]
• NPIPB5:nuclear pore complex interacting protein family member B5 [Gene - HGNC]
• NPIPB6:nuclear pore complex interacting protein family member B6 [Gene - HGNC]
• NUPR1:nuclear protein 1, transcriptional regulator [Gene - OMIM - HGNC]
• OTOA:otoancorin [Gene - OMIM - HGNC]
• PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]
• PLK1:polo like kinase 1 [Gene - OMIM - HGNC]
• PRKCB:protein kinase C beta [Gene - OMIM - HGNC]
• RABEP2:rabaptin, RAB GTPase binding effector protein 2 [Gene - OMIM - HGNC]
• SDR42E2:short chain dehydrogenase/reductase family 42E, member 2 [Gene - HGNC]
• SCNN1B:sodium channel epithelial 1 subunit beta [Gene - OMIM - HGNC]
• SCNN1G:sodium channel epithelial 1 subunit gamma [Gene - OMIM - HGNC]
• SLC5A11:solute carrier family 5 member 11 [Gene - OMIM - HGNC]
• SULT1A1:sulfotransferase family 1A member 1 [Gene - OMIM - HGNC]
• SULT1A2:sulfotransferase family 1A member 2 [Gene - OMIM - HGNC]
• TNRC6A:trinucleotide repeat containing adaptor 6A [Gene - OMIM - HGNC]
• UQCRC2:ubiquinol-cytochrome c reductase core protein 2 [Gene - OMIM - HGNC]
• UBFD1:ubiquitin family domain containing 1 [Gene - HGNC]
• USP31:ubiquitin specific peptidase 31 [Gene - OMIM - HGNC]
• VWA3A:von Willebrand factor A domain containing 3A [Gene - HGNC]
• ZKSCAN2:zinc finger with KRAB and SCAN domains 2 [Gene - HGNC]

Variant type:

Deletion

Cytogenetic location:

16p12.2-11.2

Genomic location:

Chr16: 21530207 - 29332245 (on Assembly GRCh37)

Preferred name:

NC_000016.9:g.21530207_29332245del

HGVS:

• LRG_308t1:c.-5679767_*2084573del
• NC_000016.9:g.21530207_29332245del
• NM_024675.3:c.-5679767_*2084573del

This HGVS expression did not pass validation