ClinVar

GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1

Genes:

• BCL10:BCL10 immune signaling adaptor [Gene - OMIM - HGNC]
• BARHL2:BarH like homeobox 2 [Gene - OMIM - HGNC]
• DNAJB4:DnaJ heat shock protein family (Hsp40) member B4 [Gene - OMIM - HGNC]
• FPGT-TNNI3K:FPGT-TNNI3K readthrough [Gene - HGNC]
• GNG5:G protein subunit gamma 5 [Gene - OMIM - HGNC]
• GIPC2:GIPC PDZ domain containing family member 2 [Gene - OMIM - HGNC]
• LMO4:LIM domain only 4 [Gene - OMIM - HGNC]
• LHX8:LIM homeobox 8 [Gene - OMIM - HGNC]
• NEGR1-IT1:NEGR1 intronic transcript 1 [Gene - HGNC]
• RBMXL1:RBMX like 1 [Gene - HGNC]
• RABGGTB:Rab geranylgeranyltransferase subunit beta [Gene - OMIM - HGNC]
• SH3GLB1:SH3 domain containing GRB2 like, endophilin B1 [Gene - OMIM - HGNC]
• SSX2IP:SSX family member 2 interacting protein [Gene - OMIM - HGNC]
• ST6GALNAC3:ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 [Gene - OMIM - HGNC]
• ST6GALNAC5:ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 [Gene - OMIM - HGNC]
• TNNI3K:TNNI3 interacting kinase [Gene - OMIM - HGNC]
• ACADM:acyl-CoA dehydrogenase medium chain [Gene - OMIM - HGNC]
• AK5:adenylate kinase 5 [Gene - OMIM - HGNC]
• ADGRL2:adhesion G protein-coupled receptor L2 [Gene - OMIM - HGNC]
• ADGRL4:adhesion G protein-coupled receptor L4 [Gene - OMIM - HGNC]
• ASB17:ankyrin repeat and SOCS box containing 17 [Gene - OMIM - HGNC]
• BRDT:bromodomain testis associated [Gene - OMIM - HGNC]
• CDC7:cell division cycle 7 [Gene - OMIM - HGNC]
• CCN1:cellular communication network factor 1 [Gene - OMIM - HGNC]
• CTBS:chitobiase [Gene - OMIM - HGNC]
• CLCA1:chloride channel accessory 1 [Gene - OMIM - HGNC]
• CLCA2:chloride channel accessory 2 [Gene - OMIM - HGNC]
• CLCA4:chloride channel accessory 4 [Gene - OMIM - HGNC]
• C1orf52:chromosome 1 open reading frame 52 [Gene - HGNC]
• COL24A1:collagen type XXIV alpha 1 chain [Gene - OMIM - HGNC]
• CRYZ:crystallin zeta [Gene - OMIM - HGNC]
• DNASE2B:deoxyribonuclease 2 beta [Gene - OMIM - HGNC]
• DDAH1:dimethylarginine dimethylaminohydrolase 1 [Gene - OMIM - HGNC]
• DNAI3:dynein axonemal intermediate chain 3 [Gene - OMIM - HGNC]
• EPHX4:epoxide hydrolase 4 [Gene - OMIM - HGNC]
• FUBP1:far upstream element binding protein 1 [Gene - OMIM - HGNC]
• FPGT:fucose-1-phosphate guanylyltransferase [Gene - OMIM - HGNC]
• GTF2B:general transcription factor IIB [Gene - OMIM - HGNC]
• ERICH3:glutamate rich 3 [Gene - HGNC]
• GBP1:guanylate binding protein 1 [Gene - OMIM - HGNC]
• GBP2:guanylate binding protein 2 [Gene - OMIM - HGNC]
• GBP3:guanylate binding protein 3 [Gene - OMIM - HGNC]
• GBP4:guanylate binding protein 4 [Gene - OMIM - HGNC]
• GBP5:guanylate binding protein 5 [Gene - OMIM - HGNC]
• GBP7:guanylate binding protein 7 [Gene - OMIM - HGNC]
• GBP6:guanylate binding protein family member 6 [Gene - OMIM - HGNC]
• HFM1:helicase for meiosis 1 [Gene - OMIM - HGNC]
• HS2ST1:heparan sulfate 2-O-sulfotransferase 1 [Gene - OMIM - HGNC]
• IFI44L:interferon induced protein 44 like [Gene - OMIM - HGNC]
• IFI44:interferon induced protein 44 [Gene - OMIM - HGNC]
• KYAT3:kynurenine aminotransferase 3 [Gene - OMIM - HGNC]
• LRRC8B:leucine rich repeat containing 8 VRAC subunit B [Gene - OMIM - HGNC]
• LRRC8C:leucine rich repeat containing 8 VRAC subunit C [Gene - OMIM - HGNC]
• LRRC8D:leucine rich repeat containing 8 VRAC subunit D [Gene - OMIM - HGNC]
• LRRIQ3:leucine rich repeats and IQ motif containing 3 [Gene - OMIM - HGNC]
• LPAR3:lysophosphatidic acid receptor 3 [Gene - OMIM - HGNC]
• MIGA1:mitoguardin 1 [Gene - OMIM - HGNC]
• MCOLN2:mucolipin TRP cation channel 2 [Gene - OMIM - HGNC]
• MCOLN3:mucolipin TRP cation channel 3 [Gene - OMIM - HGNC]
• MSH4:mutS homolog 4 [Gene - OMIM - HGNC]
• NEGR1:neuronal growth regulator 1 [Gene - OMIM - HGNC]
• NEXN:nexilin F-actin binding protein [Gene - OMIM - HGNC]
• ODF2L:outer dense fiber of sperm tails 2 like [Gene - OMIM - HGNC]
• PIGK:phosphatidylinositol glycan anchor biosynthesis class K [Gene - OMIM - HGNC]
• PTGFR:prostaglandin F receptor [Gene - OMIM - HGNC]
• PKN2:protein kinase N2 [Gene - OMIM - HGNC]
• PRKACB:protein kinase cAMP-activated catalytic subunit beta [Gene - OMIM - HGNC]
• RPF1:ribosome production factor 1 homolog [Gene - HGNC]
• SELENOF:selenoprotein F [Gene - OMIM - HGNC]
• SLC44A5:solute carrier family 44 member 5 [Gene - OMIM - HGNC]
• SPATA1:spermatogenesis associated 1 [Gene - HGNC]
• SAMD13:sterile alpha motif domain containing 13 [Gene - OMIM - HGNC]
• SYDE2:synapse defective Rho GTPase homolog 2 [Gene - HGNC]
• TYW3:tRNA-yW synthesizing protein 3 homolog [Gene - OMIM - HGNC]
• TGFBR3:transforming growth factor beta receptor 3 [Gene - OMIM - HGNC]
• TTLL7:tubulin tyrosine ligase like 7 [Gene - OMIM - HGNC]
• USP33:ubiquitin specific peptidase 33 [Gene - OMIM - HGNC]
• LOC101927434:uncharacterized LOC101927434 [Gene]
• ZNHIT6:zinc finger HIT-type containing 6 [Gene - OMIM - HGNC]
• ZZZ3:zinc finger ZZ-type containing 3 [Gene - OMIM - HGNC]
• ZNF326:zinc finger protein 326 [Gene - OMIM - HGNC]
• ZNF644:zinc finger protein 644 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

1p31.1-22.1

Genomic location:

Chr1: 72044544 - 92505091 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1

HGVS:

NC_000001.10:g.(?_72044544)_(92505091_?)del

This HGVS expression did not pass validation

Links:

dbVar: nssv13644718; dbVar: nsv2770304

Observations:

1