GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 2, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000512441.3

Allele description [Variation Report for GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3]

GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3

Genes:

CNP:2',3'-cyclic nucleotide 3' phosphodiesterase [Gene - OMIM - HGNC]
OGFOD3:2-oxoglutarate and iron dependent oxygenase domain containing 3 [Gene - HGNC]
NT5C:5', 3'-nucleotidase, cytosolic [Gene - OMIM - HGNC]
NT5M:5',3'-nucleotidase, mitochondrial [Gene - OMIM - HGNC]
NT5C3B:5'-nucleotidase, cytosolic IIIB [Gene - OMIM - HGNC]
AKAP10:A-kinase anchoring protein 10 [Gene - OMIM - HGNC]
AKAP1:A-kinase anchoring protein 1 [Gene - OMIM - HGNC]
ABI3:ABI family member 3 [Gene - OMIM - HGNC]
ABR:ABR activator of RhoGEF and GTPase [Gene - OMIM - HGNC]
ADAM11:ADAM metallopeptidase domain 11 [Gene - OMIM - HGNC]
ARL16:ADP ribosylation factor like GTPase 16 [Gene - OMIM - HGNC]
ARL17A:ADP ribosylation factor like GTPase 17A [Gene - HGNC]
ARL17B:ADP ribosylation factor like GTPase 17B [Gene - HGNC]
ARL4D:ADP ribosylation factor like GTPase 4D [Gene - OMIM - HGNC]
ARL5C:ADP ribosylation factor like GTPase 5C [Gene - HGNC]
ADPRM:ADP-ribose/CDP-alcohol diphosphatase, manganese dependent [Gene - HGNC]
ASPSCR1:ASPSCR1 tether for SLC2A4, UBX domain containing [Gene - OMIM - HGNC]
ABCA10:ATP binding cassette subfamily A member 10 [Gene - OMIM - HGNC]
ABCA5:ATP binding cassette subfamily A member 5 [Gene - OMIM - HGNC]
ABCA6:ATP binding cassette subfamily A member 6 [Gene - OMIM - HGNC]
ABCA8:ATP binding cassette subfamily A member 8 [Gene - OMIM - HGNC]
ABCA9:ATP binding cassette subfamily A member 9 [Gene - OMIM - HGNC]
ABCC3:ATP binding cassette subfamily C member 3 [Gene - OMIM - HGNC]
ACLY:ATP citrate lyase [Gene - OMIM - HGNC]
ATP5MC1:ATP synthase membrane subunit c locus 1 [Gene - OMIM - HGNC]
ATPAF2:ATP synthase mitochondrial F1 complex assembly factor 2 [Gene - OMIM - HGNC]
ATP5PD:ATP synthase peripheral stalk subunit d [Gene - OMIM - HGNC]
ATP6V0A1:ATPase H+ transporting V0 subunit a1 [Gene - OMIM - HGNC]
ATP1B2:ATPase Na+/K+ transporting subunit beta 2 [Gene - OMIM - HGNC]
ATAD5:ATPase family AAA domain containing 5 [Gene - OMIM - HGNC]
ATP2A3:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 [Gene - OMIM - HGNC]
ALYREF:Aly/REF export factor [Gene - OMIM - HGNC]
ACAP1:ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 [Gene - OMIM - HGNC]
ADAP2:ArfGAP with dual PH domains 2 [Gene - OMIM - HGNC]
B9D1:B9 domain containing 1 [Gene - OMIM - HGNC]
BAHCC1:BAH domain and coiled-coil containing 1 [Gene - OMIM - HGNC]
BAIAP2:BAR/IMD domain containing adaptor protein 2 [Gene - OMIM - HGNC]
BCAS3:BCAS3 microtubule associated cell migration factor [Gene - OMIM - HGNC]
BCL6B:BCL6B transcription repressor [Gene - OMIM - HGNC]
BORCS6:BLOC-1 related complex subunit 6 [Gene - OMIM - HGNC]
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
BRIP1:BRCA1 interacting helicase 1 [Gene - OMIM - HGNC]
BTBD17:BTB domain containing 17 [Gene - HGNC]
CCL11:C-C motif chemokine ligand 11 [Gene - OMIM - HGNC]
CCL13:C-C motif chemokine ligand 13 [Gene - OMIM - HGNC]
CCL14:C-C motif chemokine ligand 14 [Gene - OMIM - HGNC]
CCL15:C-C motif chemokine ligand 15 [Gene - OMIM - HGNC]
CCL16:C-C motif chemokine ligand 16 [Gene - OMIM - HGNC]
CCL18:C-C motif chemokine ligand 18 [Gene - OMIM - HGNC]
CCL1:C-C motif chemokine ligand 1 [Gene - OMIM - HGNC]
CCL23:C-C motif chemokine ligand 23 [Gene - OMIM - HGNC]
CCL2:C-C motif chemokine ligand 2 [Gene - OMIM - HGNC]
CCL3L1:C-C motif chemokine ligand 3 like 1 [Gene - OMIM - HGNC]
CCL3L3:C-C motif chemokine ligand 3 like 3 [Gene - OMIM - HGNC]
CCL3:C-C motif chemokine ligand 3 [Gene - OMIM - HGNC]
CCL4L1:C-C motif chemokine ligand 4 like 1 [Gene - OMIM - HGNC]
CCL4L2:C-C motif chemokine ligand 4 like 2 [Gene - OMIM - HGNC]
CCL4:C-C motif chemokine ligand 4 [Gene - OMIM - HGNC]
CCL5:C-C motif chemokine ligand 5 [Gene - OMIM - HGNC]
CCL7:C-C motif chemokine ligand 7 [Gene - OMIM - HGNC]
CCL8:C-C motif chemokine ligand 8 [Gene - OMIM - HGNC]
CCR10:C-C motif chemokine receptor 10 [Gene - OMIM - HGNC]
CCR7:C-C motif chemokine receptor 7 [Gene - OMIM - HGNC]
CXCL16:C-X-C motif chemokine ligand 16 [Gene - OMIM - HGNC]
CLEC10A:C-type lectin domain containing 10A [Gene - OMIM - HGNC]
C1QTNF1:C1q and TNF related 1 [Gene - OMIM - HGNC]
CASC3:CASC3 exon junction complex subunit [Gene - OMIM - HGNC]
CASKIN2:CASK interacting protein 2 [Gene - OMIM - HGNC]
CD300LB:CD300 molecule like family member b [Gene - OMIM - HGNC]
CD300LD:CD300 molecule like family member d [Gene - OMIM - HGNC]
CD300LF:CD300 molecule like family member f [Gene - OMIM - HGNC]
CD300LG:CD300 molecule like family member g [Gene - OMIM - HGNC]
CD300LD-AS1:CD300LD antisense RNA 1 [Gene - HGNC]
CD300A:CD300a molecule [Gene - OMIM - HGNC]
CD300C:CD300c molecule [Gene - OMIM - HGNC]
CD300E:CD300e molecule [Gene - OMIM - HGNC]
CD68:CD68 molecule [Gene - OMIM - HGNC]
CD7:CD7 molecule [Gene - OMIM - HGNC]
CD79B:CD79b molecule [Gene - OMIM - HGNC]
CDC42EP4:CDC42 effector protein 4 [Gene - OMIM - HGNC]
CISD3:CDGSH iron sulfur domain 3 [Gene - OMIM - HGNC]
CDK5RAP3:CDK5 regulatory subunit associated protein 3 [Gene - OMIM - HGNC]
CFAP97D1:CFAP97 domain containing 1 [Gene - OMIM - HGNC]
CHCT1:CHD1 helical C-terminal domain containing 1 [Gene - HGNC]
CDRT15L2:CMT1A duplicated region transcript 15 like 2 [Gene - HGNC]
CDRT15:CMT1A duplicated region transcript 15 [Gene - HGNC]
CDRT4:CMT1A duplicated region transcript 4 [Gene - HGNC]
COPS3:COP9 signalosome subunit 3 [Gene - OMIM - HGNC]
COPZ2:COPI coat complex subunit zeta 2 [Gene - OMIM - HGNC]
CRK:CRK proto-oncogene, adaptor protein [Gene - OMIM - HGNC]
CTC1:CST telomere replication complex component 1 [Gene - OMIM - HGNC]
CTDNEP1:CTD nuclear envelope phosphatase 1 [Gene - OMIM - HGNC]
CUEDC1:CUE domain containing 1 [Gene - OMIM - HGNC]
CWC25:CWC25 spliceosome associated protein homolog [Gene - HGNC]
COASY:Coenzyme A synthase [Gene - OMIM - HGNC]
DBF4B:DBF4B-CDC7 kinase regulatory subunit [Gene - OMIM - HGNC]
DCAF7:DDB1 and CUL4 associated factor 7 [Gene - OMIM - HGNC]
DDX42:DEAD-box helicase 42 [Gene - OMIM - HGNC]
DDX5:DEAD-box helicase 5 [Gene - OMIM - HGNC]
DHX33:DEAH-box helicase 33 [Gene - OMIM - HGNC]
DHX40:DEAH-box helicase 40 [Gene - OMIM - HGNC]
DHX8:DEAH-box helicase 8 [Gene - OMIM - HGNC]
DDX52:DExD-box helicase 52 [Gene - OMIM - HGNC]
DHX58:DExH-box helicase 58 [Gene - OMIM - HGNC]
LIG3:DNA ligase 3 [Gene - OMIM - HGNC]
POLDIP2:DNA polymerase delta interacting protein 2 [Gene - OMIM - HGNC]
POLG2:DNA polymerase gamma 2, accessory subunit [Gene - OMIM - HGNC]
TOP2A:DNA topoisomerase II alpha [Gene - OMIM - HGNC]
TOP3A:DNA topoisomerase III alpha [Gene - OMIM - HGNC]
DYNLL2-DT:DYNLL2 divergent transcript [Gene - HGNC]
DNAJC7:DnaJ heat shock protein family (Hsp40) member C7 [Gene - OMIM - HGNC]
EFCAB13:EF-hand calcium binding domain 13 [Gene - HGNC]
EFCAB3:EF-hand calcium binding domain 3 [Gene - OMIM - HGNC]
EFCAB5:EF-hand calcium binding domain 5 [Gene - HGNC]
EMC6:ER membrane protein complex subunit 6 [Gene - OMIM - HGNC]
ETV4:ETS variant transcription factor 4 [Gene - OMIM - HGNC]
ERAL1:Era like 12S mitochondrial rRNA chaperone 1 [Gene - OMIM - HGNC]
FBXW10:F-box and WD repeat domain containing 10 [Gene - OMIM - HGNC]
FBXW10B:F-box and WD repeat domain containing 10B [Gene - OMIM - HGNC]
FBXL20:F-box and leucine rich repeat protein 20 [Gene - OMIM - HGNC]
FBXO39:F-box protein 39 [Gene - OMIM - HGNC]
FBXO47:F-box protein 47 [Gene - OMIM - HGNC]
FAAP100:FA core complex associated protein 100 [Gene - OMIM - HGNC]
FAM20A:FAM20A golgi associated secretory pathway pseudokinase [Gene - OMIM - HGNC]
FKBP10:FKBP prolyl isomerase 10 [Gene - OMIM - HGNC]
FLII:FLII actin remodeling protein [Gene - OMIM - HGNC]
FXR2:FMR1 autosomal homolog 2 [Gene - OMIM - HGNC]
FBF1:Fas binding factor 1 [Gene - OMIM - HGNC]
FTSJ3:FtsJ RNA 2'-O-methyltransferase 3 [Gene - OMIM - HGNC]
GPS1:G protein pathway suppressor 1 [Gene - OMIM - HGNC]
GPS2:G protein pathway suppressor 2 [Gene - OMIM - HGNC]
GNA13:G protein subunit alpha 13 [Gene - OMIM - HGNC]
GNGT2:G protein subunit gamma transducin 2 [Gene - OMIM - HGNC]
GPR142:G protein-coupled receptor 142 [Gene - OMIM - HGNC]
GPR179:G protein-coupled receptor 179 [Gene - OMIM - HGNC]
GPRC5C:G protein-coupled receptor class C group 5 member C [Gene - OMIM - HGNC]
GPATCH8:G-patch domain containing 8 [Gene - OMIM - HGNC]
GABARAP:GABA type A receptor-associated protein [Gene - OMIM - HGNC]
GHDC:GH3 domain containing [Gene - OMIM - HGNC]
GID4:GID complex subunit 4 homolog [Gene - OMIM - HGNC]
GIT1:GIT ArfGAP 1 [Gene - OMIM - HGNC]
GRAPL:GRB2 related adaptor protein like [Gene - HGNC]
GRAP:GRB2 related adaptor protein [Gene - OMIM - HGNC]
H3-3B:H3.3 histone B [Gene - OMIM - HGNC]
HEATR6:HEAT repeat containing 6 [Gene - HGNC]
HEATR9:HEAT repeat containing 9 [Gene - HGNC]
HEXD-IT1:HEXD intronic transcript 1 [Gene - HGNC]
HEXIM1:HEXIM P-TEFb complex subunit 1 [Gene - OMIM - HGNC]
HEXIM2:HEXIM P-TEFb complex subunit 2 [Gene - OMIM - HGNC]
HIC1:HIC ZBTB transcriptional repressor 1 [Gene - OMIM - HGNC]
HID1:HID1 domain containing [Gene - OMIM - HGNC]
HIGD1B:HIG1 hypoxia inducible domain family member 1B [Gene - OMIM - HGNC]
HLF:HLF transcription factor, PAR bZIP family member [Gene - OMIM - HGNC]
HNF1B:HNF1 homeobox B [Gene - OMIM - HGNC]
IKZF3:IKAROS family zinc finger 3 [Gene - OMIM - HGNC]
JPT1:Jupiter microtubule associated homolog 1 [Gene - OMIM - HGNC]
KANSL1:KAT8 regulatory NSL complex subunit 1 [Gene - OMIM - HGNC]
KIAA0753:KIAA0753 [Gene - OMIM - HGNC]
KRBA2:KRAB-A domain containing 2 [Gene - OMIM - HGNC]
KRT10-AS1:KRT10 antisense RNA 1 [Gene - HGNC]
LASP1:LIM and SH3 protein 1 [Gene - OMIM - HGNC]
LIMD2:LIM domain containing 2 [Gene - HGNC]
LHX1:LIM homeobox 1 [Gene - OMIM - HGNC]
LLGL1:LLGL scribble cell polarity complex component 1 [Gene - OMIM - HGNC]
LLGL2:LLGL scribble cell polarity complex component 2 [Gene - OMIM - HGNC]
LSM12:LSM12 homolog [Gene - OMIM - HGNC]
LUC7L3:LUC7 like 3 pre-mRNA splicing factor [Gene - OMIM - HGNC]
LYRM9:LYR motif containing 9 [Gene - HGNC]
MAFG:MAF bZIP transcription factor G [Gene - OMIM - HGNC]
MPP2:MAGUK p55 scaffold protein 2 [Gene - OMIM - HGNC]
MPP3:MAGUK p55 scaffold protein 3 [Gene - OMIM - HGNC]
MCRIP1:MAPK regulated corepressor interacting protein 1 [Gene - OMIM - HGNC]
MLX:MAX dimerization protein MLX [Gene - OMIM - HGNC]
MNT:MAX network transcriptional repressor [Gene - OMIM - HGNC]
MIF4GD:MIF4G domain containing [Gene - OMIM - HGNC]
MIS12:MIS12 kinetochore complex component [Gene - OMIM - HGNC]
MKS1:MKS transition zone complex subunit 1 [Gene - OMIM - HGNC]
MLLT6:MLLT6, PHD finger containing [Gene - OMIM - HGNC]
MSL1:MSL complex subunit 1 [Gene - OMIM - HGNC]
MTRNR2L1:MT-RNR2 like 1 [Gene - OMIM - HGNC]
MYBBP1A:MYB binding protein 1a [Gene - OMIM - HGNC]
MYCBPAP:MYCBP associated protein [Gene - OMIM - HGNC]
NAGLU:N-acetyl-alpha-glucosaminidase [Gene - OMIM - HGNC]
NAGS:N-acetylglutamate synthase [Gene - OMIM - HGNC]
NAT9:N-acetyltransferase 9 [Gene - OMIM - HGNC]
NATD1:N-acetyltransferase domain containing 1 [Gene - HGNC]
NAA38:N-alpha-acetyltransferase 38, NatC auxiliary subunit [Gene - OMIM - HGNC]
NSF:N-ethylmaleimide sensitive factor, vesicle fusing ATPase [Gene - OMIM - HGNC]
NMT1:N-myristoyltransferase 1 [Gene - OMIM - HGNC]
SGSH:N-sulfoglucosamine sulfohydrolase [Gene - OMIM - HGNC]
NDUFAF8:NADH:ubiquinone oxidoreductase complex assembly factor 8 [Gene - OMIM - HGNC]
NBR1:NBR1 autophagy cargo receptor [Gene - OMIM - HGNC]
NFE2L1:NFE2 like bZIP transcription factor 1 [Gene - OMIM - HGNC]
NKIRAS2:NFKB inhibitor interacting Ras like 2 [Gene - OMIM - HGNC]
NHERF1:NHERF family PDZ scaffold protein 1 [Gene - OMIM - HGNC]
NEK8:NIMA related kinase 8 [Gene - OMIM - HGNC]
NLRP1:NLR family pyrin domain containing 1 [Gene - OMIM - HGNC]
NME1:NME/NM23 nucleoside diphosphate kinase 1 [Gene - OMIM - HGNC]
NME2:NME/NM23 nucleoside diphosphate kinase 2 [Gene - OMIM - HGNC]
NME1-NME2:NME1-NME2 readthrough [Gene - HGNC]
NPLOC4:NPL4 homolog, ubiquitin recognition factor [Gene - OMIM - HGNC]
ORMDL3:ORMDL sphingolipid biosynthesis regulator 3 [Gene - OMIM - HGNC]
OVCA2:OVCA2 serine hydrolase domain containing [Gene - OMIM - HGNC]
PHF12:PHD finger protein 12 [Gene - OMIM - HGNC]
PHF23:PHD finger protein 23 [Gene - OMIM - HGNC]
PIMREG:PICALM interacting mitotic regulator [Gene - OMIM - HGNC]
PITPNM3:PITPNM family member 3 [Gene - OMIM - HGNC]
PRAC1:PRAC1 small nuclear protein [Gene - OMIM - HGNC]
PRAC2:PRAC2 small nuclear protein [Gene - OMIM - HGNC]
PSMC3IP:PSMC3 interacting protein [Gene - OMIM - HGNC]
PTGES3L-AARSD1:PTGES3L-AARSD1 readthrough [Gene - HGNC]
RAB11FIP4:RAB11 family interacting protein 4 [Gene - OMIM - HGNC]
RAB34:RAB34, member RAS oncogene family [Gene - OMIM - HGNC]
RAB37:RAB37, member RAS oncogene family [Gene - OMIM - HGNC]
RAB40B:RAB40B, member RAS oncogene family [Gene - OMIM - HGNC]
RAB5C:RAB5C, member RAS oncogene family [Gene - OMIM - HGNC]
RAD51C:RAD51 paralog C [Gene - OMIM - HGNC]
RAD51D:RAD51 paralog D [Gene - OMIM - HGNC]
RDM1:RAD52 motif containing 1 [Gene - OMIM - HGNC]
RANGRF:RAN guanine nucleotide release factor [Gene - OMIM - HGNC]
RAP1GAP2:RAP1 GTPase activating protein 2 [Gene - OMIM - HGNC]
RASL10B:RAS like family 10 member B [Gene - OMIM - HGNC]
RFNG:RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase [Gene - OMIM - HGNC]
RBFOX3:RNA binding fox-1 homolog 3 [Gene - OMIM - HGNC]
POLR2A:RNA polymerase II subunit A [Gene - OMIM - HGNC]
RPAIN:RPA interacting protein [Gene - OMIM - HGNC]
RUNDC1:RUN domain containing 1 [Gene - OMIM - HGNC]
RUNDC3A:RUN domain containing 3A [Gene - OMIM - HGNC]
RILP:Rab interacting lysosomal protein [Gene - OMIM - HGNC]
RAC3:Rac family small GTPase 3 [Gene - OMIM - HGNC]
RAPGEFL1:Rap guanine nucleotide exchange factor like 1 [Gene - HGNC]
RECQL5:RecQ like helicase 5 [Gene - OMIM - HGNC]
ARHGDIA:Rho GDP dissociation inhibitor alpha [Gene - OMIM - HGNC]
ARHGAP23:Rho GTPase activating protein 23 [Gene - OMIM - HGNC]
ARHGAP27:Rho GTPase activating protein 27 [Gene - OMIM - HGNC]
ARHGAP44:Rho GTPase activating protein 44 [Gene - OMIM - HGNC]
RND2:Rho family GTPase 2 [Gene - OMIM - HGNC]
ARHGEF15:Rho guanine nucleotide exchange factor 15 [Gene - OMIM - HGNC]
SAP30BP:SAP30 binding protein [Gene - OMIM - HGNC]
SEBOX:SEBOX homeobox [Gene - OMIM - HGNC]
SEC14L1:SEC14 like lipid binding 1 [Gene - OMIM - HGNC]
SMYD4:SET and MYND domain containing 4 [Gene - OMIM - HGNC]
STAC2:SH3 and cysteine rich domain 2 [Gene - HGNC]
SCIMP:SLP adaptor and CSK interacting membrane protein [Gene - OMIM - HGNC]
SMURF2:SMAD specific E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
SMCR8:SMCR8-C9orf72 complex subunit [Gene - OMIM - HGNC]
SMG6:SMG6 nonsense mediated mRNA decay factor [Gene - OMIM - HGNC]
SMG8:SMG8 nonsense mediated mRNA decay factor [Gene - OMIM - HGNC]
SNF8:SNF8 subunit of ESCRT-II [Gene - OMIM - HGNC]
SPEM2:SPEM family member 2 [Gene - HGNC]
SPNS2:SPNS lysolipid transporter 2, sphingosine-1-phosphate [Gene - OMIM - HGNC]
SPNS3:SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative) [Gene - OMIM - HGNC]
SUPT4H1:SPT4 homolog, DSIF elongation factor subunit [Gene - OMIM - HGNC]
SUPT6H:SPT6 homolog, histone chaperone and transcription elongation factor [Gene - OMIM - HGNC]
SRCIN1:SRC kinase signaling inhibitor 1 [Gene - OMIM - HGNC]
SOX15:SRY-box transcription factor 15 [Gene - OMIM - HGNC]
SOX9:SRY-box transcription factor 9 [Gene - OMIM - HGNC]
ST6GALNAC1:ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 [Gene - OMIM - HGNC]
ST6GALNAC2:ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 [Gene - OMIM - HGNC]
STRADA:STE20 related adaptor alpha [Gene - OMIM - HGNC]
SENP3:SUMO specific peptidase 3 [Gene - OMIM - HGNC]
SUZ12:SUZ12 polycomb repressive complex 2 subunit [Gene - OMIM - HGNC]
SMARCD2:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 [Gene - OMIM - HGNC]
SMARCE1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 [Gene - OMIM - HGNC]
SP2:Sp2 transcription factor [Gene - OMIM - HGNC]
SP6:Sp6 transcription factor [Gene - OMIM - HGNC]
STARD3:StAR related lipid transfer domain containing 3 [Gene - OMIM - HGNC]
TBX21:T-box transcription factor 21 [Gene - OMIM - HGNC]
TBX2:T-box transcription factor 2 [Gene - OMIM - HGNC]
TBX4:T-box transcription factor 4 [Gene - OMIM - HGNC]
TAOK1:TAO kinase 1 [Gene - OMIM - HGNC]
TAF15:TATA-box binding protein associated factor 15 [Gene - OMIM - HGNC]
TBC1D16:TBC1 domain family member 16 [Gene - OMIM - HGNC]
TBC1D26:TBC1 domain family member 26 [Gene - HGNC]
TBC1D28:TBC1 domain family member 28 [Gene - HGNC]
TBC1D29P:TBC1 domain family member 29, pseudogene [Gene - HGNC]
TBC1D3:TBC1 domain family member 3 [Gene - OMIM - HGNC]
TBC1D3B:TBC1 domain family member 3B [Gene - OMIM - HGNC]
TBC1D3C:TBC1 domain family member 3C [Gene - OMIM - HGNC]
TBC1D3F:TBC1 domain family member 3F [Gene - OMIM - HGNC]
TBC1D3H:TBC1 domain family member 3H [Gene - OMIM - HGNC]
TBKBP1:TBK1 binding protein 1 [Gene - OMIM - HGNC]
TEN1:TEN1 subunit of CST complex [Gene - OMIM - HGNC]
TEPSIN:TEPSIN adaptor related protein complex 4 accessory protein [Gene - HGNC]
TIMP2:TIMP metallopeptidase inhibitor 2 [Gene - OMIM - HGNC]
TLCD1:TLC domain containing 1 [Gene - HGNC]
TLCD2:TLC domain containing 2 [Gene - HGNC]
TLCD3A:TLC domain containing 3A [Gene - OMIM - HGNC]
TMEM105:TMEM105 long non-coding RNA [Gene - HGNC]
TMEM132E-DT:TMEM132E divergent transcript [Gene - HGNC]
TNFAIP1:TNF alpha induced protein 1 [Gene - OMIM - HGNC]
TRAF4:TNF receptor associated factor 4 [Gene - OMIM - HGNC]
TNFRSF13B:TNF receptor superfamily member 13B [Gene - OMIM - HGNC]
TNFSF12:TNF superfamily member 12 [Gene - OMIM - HGNC]
TNFSF13:TNF superfamily member 13 [Gene - OMIM - HGNC]
TNFSF12-TNFSF13:TNFSF12-TNFSF13 readthrough [Gene - HGNC]
TSPOAP1:TSPO associated protein 1 [Gene - OMIM - HGNC]
TSR1:TSR1 ribosome maturation factor [Gene - OMIM - HGNC]
TVP23C-CDRT4:TVP23C-CDRT4 readthrough [Gene - HGNC]
TAX1BP3:Tax1 binding protein 3 [Gene - OMIM - HGNC]
UBALD2:UBA like domain containing 2 [Gene - HGNC]
B3GNTL1:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1 [Gene - OMIM - HGNC]
USH1G:USH1 protein network component sans [Gene - OMIM - HGNC]
UTP18:UTP18 small subunit processome component [Gene - OMIM - HGNC]
UTP6:UTP6 small subunit processome component [Gene - HGNC]
VCF1:VCP nuclear cofactor family member 1 [Gene - HGNC]
VPS53:VPS53 subunit of GARP complex [Gene - OMIM - HGNC]
WFIKKN2:WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 [Gene - OMIM - HGNC]
WIPF2:WAS/WASL interacting protein family member 2 [Gene - OMIM - HGNC]
WSB1:WD repeat and SOCS box containing 1 [Gene - OMIM - HGNC]
WRAP53:WD repeat containing antisense to TP53 [Gene - OMIM - HGNC]
WDR45B:WD repeat domain 45B [Gene - OMIM - HGNC]
WDR81:WD repeat domain 81 [Gene - OMIM - HGNC]
WIPI1:WD repeat domain, phosphoinositide interacting 1 [Gene - OMIM - HGNC]
WNK4:WNK lysine deficient protein kinase 4 [Gene - OMIM - HGNC]
WSCD1:WSC domain containing 1 [Gene - OMIM - HGNC]
WBP2:WW domain binding protein 2 [Gene - OMIM - HGNC]
WNT3:Wnt family member 3 [Gene - OMIM - HGNC]
WNT9B:Wnt family member 9B [Gene - OMIM - HGNC]
XAF1:XIAP associated factor 1 [Gene - OMIM - HGNC]
YBX2:Y-box binding protein 2 [Gene - OMIM - HGNC]
ZFP3:ZFP3 zinc finger protein [Gene - OMIM - HGNC]
ABHD15:abhydrolase domain containing 15 [Gene - OMIM - HGNC]
ACACA:acetyl-CoA carboxylase alpha [Gene - OMIM - HGNC]
ASIC2:acid sensing ion channel subunit 2 [Gene - OMIM - HGNC]
ACTG1:actin gamma 1 [Gene - OMIM - HGNC]
ACBD4:acyl-CoA binding domain containing 4 [Gene - OMIM - HGNC]
ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
ACOX1:acyl-CoA oxidase 1 [Gene - OMIM - HGNC]
ACSF2:acyl-CoA synthetase family member 2 [Gene - OMIM - HGNC]
AP2B1:adaptor related protein complex 2 subunit beta 1 [Gene - OMIM - HGNC]
ADORA2B:adenosine A2b receptor [Gene - OMIM - HGNC]
AARSD1:alanyl-tRNA synthetase domain containing 1 [Gene - OMIM - HGNC]
ALDH3A1:aldehyde dehydrogenase 3 family member A1 [Gene - OMIM - HGNC]
ALDH3A2:aldehyde dehydrogenase 3 family member A2 [Gene - OMIM - HGNC]
ALDOC:aldolase, fructose-bisphosphate C [Gene - OMIM - HGNC]
ALKBH5:alkB homolog 5, RNA demethylase [Gene - OMIM - HGNC]
GAA:alpha glucosidase [Gene - OMIM - HGNC]
MGAT5B:alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B [Gene - OMIM - HGNC]
AOC2:amine oxidase copper containing 2 [Gene - OMIM - HGNC]
AOC3:amine oxidase copper containing 3 [Gene - OMIM - HGNC]
NPEPPS:aminopeptidase puromycin sensitive [Gene - OMIM - HGNC]
APPBP2:amyloid beta precursor protein binding protein 2 [Gene - OMIM - HGNC]
ANAPC11:anaphase promoting complex subunit 11 [Gene - OMIM - HGNC]
ACE:angiotensin I converting enzyme [Gene - OMIM - HGNC]
ANKFY1:ankyrin repeat and FYVE domain containing 1 [Gene - OMIM - HGNC]
ASB16:ankyrin repeat and SOCS box containing 16 [Gene - OMIM - HGNC]
ANKFN1:ankyrin repeat and fibronectin type III domain containing 1 [Gene - OMIM - HGNC]
ANKRD13B:ankyrin repeat domain 13B [Gene - OMIM - HGNC]
ANKRD40:ankyrin repeat domain 40 [Gene - HGNC]
APOH:apolipoprotein H [Gene - OMIM - HGNC]
AATF:apoptosis antagonizing transcription factor [Gene - OMIM - HGNC]
AATK:apoptosis associated tyrosine kinase [Gene - OMIM - HGNC]
ALOX12B:arachidonate 12-lipoxygenase, 12R type [Gene - OMIM - HGNC]
ALOX12:arachidonate 12-lipoxygenase, 12S type [Gene - OMIM - HGNC]
ALOX15B:arachidonate 15-lipoxygenase type B [Gene - OMIM - HGNC]
ALOX15:arachidonate 15-lipoxygenase [Gene - OMIM - HGNC]
ALOXE3:arachidonate epidermal lipoxygenase 3 [Gene - OMIM - HGNC]
AANAT:aralkylamine N-acetyltransferase [Gene - OMIM - HGNC]
AMZ2:archaelysin family metallopeptidase 2 [Gene - OMIM - HGNC]
ARMC7:armadillo repeat containing 7 [Gene - HGNC]
ARRB2:arrestin beta 2 [Gene - OMIM - HGNC]
AIPL1:aryl hydrocarbon receptor interacting protein like 1 [Gene - OMIM - HGNC]
AFMID:arylformamidase [Gene - HGNC]
ARSG:arylsulfatase G [Gene - OMIM - HGNC]
ASGR1:asialoglycoprotein receptor 1 [Gene - OMIM - HGNC]
ASGR2:asialoglycoprotein receptor 2 [Gene - OMIM - HGNC]
ASPA:aspartoacylase [Gene - OMIM - HGNC]
ATXN7L3:ataxin 7 like 3 [Gene - OMIM - HGNC]
AURKB:aurora kinase B [Gene - OMIM - HGNC]
AXIN2:axin 2 [Gene - OMIM - HGNC]
BIRC5:baculoviral IAP repeat containing 5 [Gene - OMIM - HGNC]
BHLHA9:basic helix-loop-helix family member a9 [Gene - OMIM - HGNC]
BECN1:beclin 1 [Gene - OMIM - HGNC]
B4GALNT2:beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group) [Gene - OMIM - HGNC]
BLMH:bleomycin hydrolase [Gene - OMIM - HGNC]
BLTP2:bridge-like lipid transfer protein family member 2 [Gene - OMIM - HGNC]
BPTF:bromodomain PHD finger transcription factor [Gene - OMIM - HGNC]
CANT1:calcium activated nucleotidase 1 [Gene - OMIM - HGNC]
CALCOCO2:calcium binding and coiled-coil domain 2 [Gene - OMIM - HGNC]
CACNB1:calcium voltage-gated channel auxiliary subunit beta 1 [Gene - OMIM - HGNC]
CACNG1:calcium voltage-gated channel auxiliary subunit gamma 1 [Gene - OMIM - HGNC]
CACNG4:calcium voltage-gated channel auxiliary subunit gamma 4 [Gene - OMIM - HGNC]
CACNG5:calcium voltage-gated channel auxiliary subunit gamma 5 [Gene - OMIM - HGNC]
CACNA1G:calcium voltage-gated channel subunit alpha1 G [Gene - OMIM - HGNC]
CAMKK1:calcium/calmodulin dependent protein kinase kinase 1 [Gene - OMIM - HGNC]
CAMTA2:calmodulin binding transcription activator 2 [Gene - OMIM - HGNC]
CA10:carbonic anhydrase 10 [Gene - OMIM - HGNC]
CA4:carbonic anhydrase 4 [Gene - OMIM - HGNC]
CPD:carboxypeptidase D [Gene - OMIM - HGNC]
CSNK1D:casein kinase 1 delta [Gene - OMIM - HGNC]
CARD14:caspase recruitment domain family member 14 [Gene - OMIM - HGNC]
CAVIN1:caveolae associated protein 1 [Gene - OMIM - HGNC]
CDC27:cell division cycle 27 [Gene - OMIM - HGNC]
CDC6:cell division cycle 6 [Gene - OMIM - HGNC]
CNTROB:centrobin, centriole duplication and spindle assembly protein [Gene - OMIM - HGNC]
CENPV:centromere protein V [Gene - OMIM - HGNC]
CENPX:centromere protein X [Gene - OMIM - HGNC]
CEP112:centrosomal protein 112 [Gene - OMIM - HGNC]
CEP131:centrosomal protein 131 [Gene - OMIM - HGNC]
CEP95:centrosomal protein 95 [Gene - HGNC]
CDR2L:cerebellar degeneration related protein 2 like [Gene - HGNC]
CCT6B:chaperonin containing TCP1 subunit 6B [Gene - OMIM - HGNC]
CHMP6:charged multivesicular body protein 6 [Gene - OMIM - HGNC]
CHRNB1:cholinergic receptor nicotinic beta 1 subunit [Gene - OMIM - HGNC]
CHRNE:cholinergic receptor nicotinic epsilon subunit [Gene - OMIM - HGNC]
CHAD:chondroadherin [Gene - OMIM - HGNC]
CSH1:chorionic somatomammotropin hormone 1 [Gene - OMIM - HGNC]
CSH2:chorionic somatomammotropin hormone 2 [Gene - OMIM - HGNC]
CSHL1:chorionic somatomammotropin hormone like 1 [Gene - OMIM - HGNC]
CBX1:chromobox 1 [Gene - OMIM - HGNC]
CBX2:chromobox 2 [Gene - OMIM - HGNC]
CBX4:chromobox 4 [Gene - OMIM - HGNC]
CBX8:chromobox 8 [Gene - OMIM - HGNC]
CHD3:chromodomain helicase DNA binding protein 3 [Gene - OMIM - HGNC]
C17orf100:chromosome 17 open reading frame 100 [Gene - HGNC]
C17orf107:chromosome 17 open reading frame 107 [Gene - HGNC]
C17orf47:chromosome 17 open reading frame 47 [Gene - HGNC]
C17orf49:chromosome 17 open reading frame 49 [Gene - OMIM - HGNC]
C17orf50:chromosome 17 open reading frame 50 [Gene - HGNC]
C17orf58:chromosome 17 open reading frame 58 [Gene - HGNC]
C17orf67:chromosome 17 open reading frame 67 [Gene - HGNC]
C17orf75:chromosome 17 open reading frame 75 [Gene - HGNC]
C17orf78:chromosome 17 open reading frame 78 [Gene - HGNC]
C17orf99:chromosome 17 open reading frame 99 [Gene - HGNC]
CFAP52:cilia and flagella associated protein 52 [Gene - OMIM - HGNC]
CLTC:clathrin heavy chain [Gene - OMIM - HGNC]
CLDN7:claudin 7 [Gene - OMIM - HGNC]
CPSF4L:cleavage and polyadenylation specific factor 4 like [Gene - HGNC]
CLUH:clustered mitochondria homolog [Gene - OMIM - HGNC]
CCDC40:coiled-coil domain 40 molecular ruler complex subunit [Gene - OMIM - HGNC]
CCDC103:coiled-coil domain containing 103 [Gene - OMIM - HGNC]
CCDC137:coiled-coil domain containing 137 [Gene - OMIM - HGNC]
CCDC144A:coiled-coil domain containing 144A [Gene - OMIM - HGNC]
CCDC42:coiled-coil domain containing 42 [Gene - HGNC]
CCDC43:coiled-coil domain containing 43 [Gene - HGNC]
CCDC47:coiled-coil domain containing 47 [Gene - OMIM - HGNC]
CCDC57:coiled-coil domain containing 57 [Gene - HGNC]
COIL:coilin [Gene - OMIM - HGNC]
COL1A1:collagen type I alpha 1 chain [Gene - OMIM - HGNC]
CSF3:colony stimulating factor 3 [Gene - OMIM - HGNC]
C1QBP:complement C1q binding protein [Gene - OMIM - HGNC]
C1QL1:complement C1q like 1 [Gene - OMIM - HGNC]
COG1:component of oligomeric golgi complex 1 [Gene - OMIM - HGNC]
CNTNAP1:contactin associated protein 1 [Gene - OMIM - HGNC]
COPRS:coordinator of PRMT5 and differentiation stimulator [Gene - HGNC]
CORO6:coronin 6 [Gene - HGNC]
CRHR1:corticotropin releasing hormone receptor 1 [Gene - OMIM - HGNC]
CRYBA1:crystallin beta A1 [Gene - OMIM - HGNC]
CNTD1:cyclin N-terminal domain containing 1 [Gene - OMIM - HGNC]
CDK12:cyclin dependent kinase 12 [Gene - OMIM - HGNC]
CDK3:cyclin dependent kinase 3 [Gene - OMIM - HGNC]
CDK5R1:cyclin dependent kinase 5 regulatory subunit 1 [Gene - OMIM - HGNC]
CTNS:cystinosin, lysosomal cystine transporter [Gene - OMIM - HGNC]
CYBC1:cytochrome b-245 chaperone 1 [Gene - OMIM - HGNC]
CYB5D1:cytochrome b5 domain containing 1 [Gene - HGNC]
CYB5D2:cytochrome b5 domain containing 2 [Gene - HGNC]
CYB561:cytochrome b561 [Gene - OMIM - HGNC]
COA3:cytochrome c oxidase assembly factor 3 [Gene - OMIM - HGNC]
COX10:cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 [Gene - OMIM - HGNC]
COX11:cytochrome c oxidase copper chaperone COX11 [Gene - OMIM - HGNC]
CYGB:cytoglobin [Gene - OMIM - HGNC]
CYTH1:cytohesin 1 [Gene - OMIM - HGNC]
CRLF3:cytokine receptor like factor 3 [Gene - OMIM - HGNC]
DHRS11:dehydrogenase/reductase 11 [Gene - OMIM - HGNC]
DHRS13:dehydrogenase/reductase 13 [Gene - OMIM - HGNC]
DHRS7B:dehydrogenase/reductase 7B [Gene - OMIM - HGNC]
DHRS7C:dehydrogenase/reductase 7C [Gene - OMIM - HGNC]
DCAKD:dephospho-CoA kinase domain containing [Gene - HGNC]
DERL2:derlin 2 [Gene - OMIM - HGNC]
DRG2:developmentally regulated GTP binding protein 2 [Gene - OMIM - HGNC]
DGKE:diacylglycerol kinase epsilon [Gene - OMIM - HGNC]
DCXR:dicarbonyl and L-xylulose reductase [Gene - OMIM - HGNC]
DUS1L:dihydrouridine synthase 1 like [Gene - HGNC]
DPH1:diphthamide biosynthesis 1 [Gene - OMIM - HGNC]
DLG4:discs large MAGUK scaffold protein 4 [Gene - OMIM - HGNC]
DVL2:dishevelled segment polarity protein 2 [Gene - OMIM - HGNC]
DLX3:distal-less homeobox 3 [Gene - OMIM - HGNC]
DLX4:distal-less homeobox 4 [Gene - OMIM - HGNC]
DOC2B:double C2 domain beta [Gene - OMIM - HGNC]
DUSP14:dual specificity phosphatase 14 [Gene - OMIM - HGNC]
DUSP3:dual specificity phosphatase 3 [Gene - OMIM - HGNC]
DNAH17:dynein axonemal heavy chain 17 [Gene - OMIM - HGNC]
DNAH2:dynein axonemal heavy chain 2 [Gene - OMIM - HGNC]
DNAH9:dynein axonemal heavy chain 9 [Gene - OMIM - HGNC]
DNAI2:dynein axonemal intermediate chain 2 [Gene - OMIM - HGNC]
DYNLL2:dynein light chain LC8-type 2 [Gene - OMIM - HGNC]
DRC3:dynein regulatory complex subunit 3 [Gene - OMIM - HGNC]
EVI2A:ecotropic viral integration site 2A [Gene - OMIM - HGNC]
EVI2B:ecotropic viral integration site 2B [Gene - OMIM - HGNC]
ENPP7:ectonucleotide pyrophosphatase/phosphodiesterase 7 [Gene - OMIM - HGNC]
ELAC2:elaC ribonuclease Z 2 [Gene - OMIM - HGNC]
EFTUD2:elongation factor Tu GTP binding domain containing 2 [Gene - OMIM - HGNC]
ELP5:elongator acetyltransferase complex subunit 5 [Gene - OMIM - HGNC]
EPOP:elongin BC and polycomb repressive complex 2 associated protein [Gene - OMIM - HGNC]
ENGASE:endo-beta-N-acetylglucosaminidase [Gene - OMIM - HGNC]
ENDOV:endonuclease V [Gene - OMIM - HGNC]
ERN1:endoplasmic reticulum to nucleus signaling 1 [Gene - OMIM - HGNC]
EZH1:enhancer of zeste 1 polycomb repressive complex 2 subunit [Gene - OMIM - HGNC]
ENO3:enolase 3 [Gene - OMIM - HGNC]
EVPLL:envoplakin like [Gene - HGNC]
EVPL:envoplakin [Gene - OMIM - HGNC]
EPX:eosinophil peroxidase [Gene - OMIM - HGNC]
EFNB3:ephrin B3 [Gene - OMIM - HGNC]
EPN2:epsin 2 [Gene - OMIM - HGNC]
EPN3:epsin 3 [Gene - OMIM - HGNC]
ERBB2:erb-b2 receptor tyrosine kinase 2 [Gene - OMIM - HGNC]
EME1:essential meiotic structure-specific endonuclease 1 [Gene - OMIM - HGNC]
EIF1:eukaryotic translation initiation factor 1 [Gene - OMIM - HGNC]
EIF4A1:eukaryotic translation initiation factor 4A1 [Gene - OMIM - HGNC]
EIF4A3:eukaryotic translation initiation factor 4A3 [Gene - OMIM - HGNC]
EIF5A:eukaryotic translation initiation factor 5A [Gene - OMIM - HGNC]
EXOC7:exocyst complex component 7 [Gene - OMIM - HGNC]
FAM117A:family with sequence similarity 117 member A [Gene - HGNC]
FAM171A2:family with sequence similarity 171 member A2 [Gene - HGNC]
FAM222B:family with sequence similarity 222 member B [Gene - HGNC]
FAM83G:family with sequence similarity 83 member G [Gene - OMIM - HGNC]
FSCN2:fascin actin-bundling protein 2, retinal [Gene - OMIM - HGNC]
FADS6:fatty acid desaturase 6 [Gene - OMIM - HGNC]
FASN:fatty acid synthase [Gene - OMIM - HGNC]
FDXR:ferredoxin reductase [Gene - OMIM - HGNC]
FGF11:fibroblast growth factor 11 [Gene - OMIM - HGNC]
FNDC8:fibronectin type III domain containing 8 [Gene - HGNC]
FLOT2:flotillin 2 [Gene - OMIM - HGNC]
FLCN:folliculin [Gene - OMIM - HGNC]
FOXJ1:forkhead box J1 [Gene - OMIM - HGNC]
FOXK2:forkhead box K2 [Gene - OMIM - HGNC]
FOXN1:forkhead box N1 [Gene - OMIM - HGNC]
FMNL1:formin like 1 [Gene - OMIM - HGNC]
FZD2:frizzled class receptor 2 [Gene - OMIM - HGNC]
FN3KRP:fructosamine 3 kinase related protein [Gene - OMIM - HGNC]
FN3K:fructosamine 3 kinase [Gene - OMIM - HGNC]
GALK1:galactokinase 1 [Gene - OMIM - HGNC]
GALR2:galanin receptor 2 [Gene - OMIM - HGNC]
LGALS3BP:galectin 3 binding protein [Gene - OMIM - HGNC]
LGALS9:galectin 9 [Gene - OMIM - HGNC]
LGALS9B:galectin 9B [Gene - HGNC]
LGALS9C:galectin 9C [Gene - HGNC]
GGNBP2:gametogenetin binding protein 2 [Gene - OMIM - HGNC]
GGT6:gamma-glutamyltransferase 6 [Gene - OMIM - HGNC]
GJD3:gap junction protein delta 3 [Gene - OMIM - HGNC]
GJC1:gap junction protein gamma 1 [Gene - OMIM - HGNC]
GSDMA:gasdermin A [Gene - OMIM - HGNC]
GSDMB:gasdermin B [Gene - OMIM - HGNC]
GIP:gastric inhibitory polypeptide [Gene - OMIM - HGNC]
GAST:gastrin [Gene - OMIM - HGNC]
GEMIN4:gem nuclear organelle associated protein 4 [Gene - OMIM - HGNC]
GFAP:glial fibrillary acidic protein [Gene - OMIM - HGNC]
GLP2R:glucagon like peptide 2 receptor [Gene - OMIM - HGNC]
GCGR:glucagon receptor [Gene - OMIM - HGNC]
G6PC1:glucose-6-phosphatase catalytic subunit 1 [Gene - OMIM - HGNC]
G6PC3:glucose-6-phosphatase catalytic subunit 3 [Gene - OMIM - HGNC]
GRIN2C:glutamate ionotropic receptor NMDA type subunit 2C [Gene - OMIM - HGNC]
QRICH2:glutamine rich 2 [Gene - OMIM - HGNC]
GDPD1:glycerophosphodiester phosphodiesterase domain containing 1 [Gene - OMIM - HGNC]
GLTPD2:glycolipid transfer protein domain containing 2 [Gene - OMIM - HGNC]
GP1BA:glycoprotein Ib platelet subunit alpha [Gene - OMIM - HGNC]
GLOD4:glyoxalase domain containing 4 [Gene - OMIM - HGNC]
GOSR1:golgi SNAP receptor complex member 1 [Gene - OMIM - HGNC]
GOSR2:golgi SNAP receptor complex member 2 [Gene - OMIM - HGNC]
GGA3:golgi associated, gamma adaptin ear containing, ARF binding protein 3 [Gene - OMIM - HGNC]
GRN:granulin precursor [Gene - OMIM - HGNC]
GAS2L2:growth arrest specific 2 like 2 [Gene - OMIM - HGNC]
GAS7:growth arrest specific 7 [Gene - OMIM - HGNC]
GRB2:growth factor receptor bound protein 2 [Gene - OMIM - HGNC]
GRB7:growth factor receptor bound protein 7 [Gene - OMIM - HGNC]
GH1:growth hormone 1 [Gene - OMIM - HGNC]
GH2:growth hormone 2 [Gene - OMIM - HGNC]
GUCY2D:guanylate cyclase 2D, retinal [Gene - OMIM - HGNC]
HSPB9:heat shock protein family B (small) member 9 [Gene - OMIM - HGNC]
HSF5:heat shock transcription factor 5 [Gene - OMIM - HGNC]
HELZ:helicase with zinc finger [Gene - OMIM - HGNC]
HS3ST3A1:heparan sulfate-glucosamine 3-sulfotransferase 3A1 [Gene - OMIM - HGNC]
HS3ST3B1:heparan sulfate-glucosamine 3-sulfotransferase 3B1 [Gene - OMIM - HGNC]
HGS:hepatocyte growth factor-regulated tyrosine kinase substrate [Gene - OMIM - HGNC]
HES7:hes family bHLH transcription factor 7 [Gene - OMIM - HGNC]
HEXD:hexosaminidase D [Gene - OMIM - HGNC]
HASPIN:histone H3 associated protein kinase [Gene - OMIM - HGNC]
HDAC5:histone deacetylase 5 [Gene - OMIM - HGNC]
HOXB13:homeobox B13 [Gene - OMIM - HGNC]
HOXB1:homeobox B1 [Gene - OMIM - HGNC]
HOXB2:homeobox B2 [Gene - OMIM - HGNC]
HOXB3:homeobox B3 [Gene - OMIM - HGNC]
HOXB4:homeobox B4 [Gene - OMIM - HGNC]
HOXB5:homeobox B5 [Gene - OMIM - HGNC]
HOXB6:homeobox B6 [Gene - OMIM - HGNC]
HOXB7:homeobox B7 [Gene - OMIM - HGNC]
HOXB8:homeobox B8 [Gene - OMIM - HGNC]
HOXB9:homeobox B9 [Gene - OMIM - HGNC]
HROB:homologous recombination factor with OB-fold [Gene - OMIM - HGNC]
HAP1:huntingtin associated protein 1 [Gene - OMIM - HGNC]
HSD17B1:hydroxysteroid 17-beta dehydrogenase 1 [Gene - OMIM - HGNC]
HCRT:hypocretin neuropeptide precursor [Gene - OMIM - HGNC]
INCA1:inhibitor of CDK, cyclin A1 interacting protein 1 [Gene - OMIM - HGNC]
INPP5K:inositol polyphosphate-5-phosphatase K [Gene - OMIM - HGNC]
IGF2BP1:insulin like growth factor 2 mRNA binding protein 1 [Gene - OMIM - HGNC]
IGFBP4:insulin like growth factor binding protein 4 [Gene - OMIM - HGNC]
INTS2:integrator complex subunit 2 [Gene - OMIM - HGNC]
ITGA2B:integrin subunit alpha 2b [Gene - OMIM - HGNC]
ITGA3:integrin subunit alpha 3 [Gene - OMIM - HGNC]
ITGAE:integrin subunit alpha E [Gene - OMIM - HGNC]
ITGB3:integrin subunit beta 3 [Gene - OMIM - HGNC]
ITGB4:integrin subunit beta 4 [Gene - OMIM - HGNC]
ICAM2:intercellular adhesion molecule 2 [Gene - OMIM - HGNC]
IFI35:interferon induced protein 35 [Gene - OMIM - HGNC]
IFT20:intraflagellar transport 20 [Gene - OMIM - HGNC]
JMJD6:jumonji domain containing 6, arginine demethylase and lysine hydroxylase [Gene - OMIM - HGNC]
JUP:junction plakoglobin [Gene - OMIM - HGNC]
KPNA2:karyopherin subunit alpha 2 [Gene - OMIM - HGNC]
KPNB1:karyopherin subunit beta 1 [Gene - OMIM - HGNC]
KLHL10:kelch like family member 10 [Gene - OMIM - HGNC]
KLHL11:kelch like family member 11 [Gene - OMIM - HGNC]
KRT10:keratin 10 [Gene - OMIM - HGNC]
KRT12:keratin 12 [Gene - OMIM - HGNC]
KRT13:keratin 13 [Gene - OMIM - HGNC]
KRT14:keratin 14 [Gene - OMIM - HGNC]
KRT15:keratin 15 [Gene - OMIM - HGNC]
KRT16:keratin 16 [Gene - OMIM - HGNC]
KRT17:keratin 17 [Gene - OMIM - HGNC]
KRT19:keratin 19 [Gene - OMIM - HGNC]
KRT20:keratin 20 [Gene - OMIM - HGNC]
KRT222:keratin 222 [Gene - HGNC]
KRT23:keratin 23 [Gene - OMIM - HGNC]
KRT24:keratin 24 [Gene - OMIM - HGNC]
KRT25:keratin 25 [Gene - OMIM - HGNC]
KRT26:keratin 26 [Gene - OMIM - HGNC]
KRT27:keratin 27 [Gene - OMIM - HGNC]
KRT28:keratin 28 [Gene - OMIM - HGNC]
KRT31:keratin 31 [Gene - OMIM - HGNC]
KRT32:keratin 32 [Gene - OMIM - HGNC]
KRT33A:keratin 33A [Gene - OMIM - HGNC]
KRT33B:keratin 33B [Gene - OMIM - HGNC]
KRT34:keratin 34 [Gene - OMIM - HGNC]
KRT35:keratin 35 [Gene - OMIM - HGNC]
KRT36:keratin 36 [Gene - OMIM - HGNC]
KRT37:keratin 37 [Gene - OMIM - HGNC]
KRT38:keratin 38 [Gene - OMIM - HGNC]
KRT39:keratin 39 [Gene - OMIM - HGNC]
KRT40:keratin 40 [Gene - OMIM - HGNC]
KRT9:keratin 9 [Gene - OMIM - HGNC]
KRTAP1-1:keratin associated protein 1-1 [Gene - OMIM - HGNC]
KRTAP1-3:keratin associated protein 1-3 [Gene - OMIM - HGNC]
KRTAP1-4:keratin associated protein 1-4 [Gene - OMIM - HGNC]
KRTAP1-5:keratin associated protein 1-5 [Gene - OMIM - HGNC]
KRTAP16-1:keratin associated protein 16-1 [Gene - HGNC]
KRTAP17-1:keratin associated protein 17-1 [Gene - HGNC]
KRTAP2-1:keratin associated protein 2-1 [Gene - HGNC]
KRTAP2-2:keratin associated protein 2-2 [Gene - HGNC]
KRTAP2-3:keratin associated protein 2-3 [Gene - HGNC]
KRTAP2-4:keratin associated protein 2-4 [Gene - HGNC]
KRTAP3-1:keratin associated protein 3-1 [Gene - HGNC]
KRTAP3-2:keratin associated protein 3-2 [Gene - HGNC]
KRTAP3-3:keratin associated protein 3-3 [Gene - HGNC]
KRTAP4-11:keratin associated protein 4-11 [Gene - HGNC]
KRTAP4-12:keratin associated protein 4-12 [Gene - HGNC]
KRTAP4-1:keratin associated protein 4-1 [Gene - HGNC]
KRTAP4-2:keratin associated protein 4-2 [Gene - HGNC]
KRTAP4-3:keratin associated protein 4-3 [Gene - HGNC]
KRTAP4-4:keratin associated protein 4-4 [Gene - HGNC]
KRTAP4-5:keratin associated protein 4-5 [Gene - HGNC]
KRTAP4-6:keratin associated protein 4-6 [Gene - HGNC]
KRTAP4-7:keratin associated protein 4-7 [Gene - HGNC]
KRTAP4-8:keratin associated protein 4-8 [Gene - HGNC]
KRTAP4-9:keratin associated protein 4-9 [Gene - HGNC]
KRTAP9-1:keratin associated protein 9-1 [Gene - HGNC]
KRTAP9-2:keratin associated protein 9-2 [Gene - HGNC]
KRTAP9-3:keratin associated protein 9-3 [Gene - HGNC]
KRTAP9-4:keratin associated protein 9-4 [Gene - HGNC]
KRTAP9-6:keratin associated protein 9-6 [Gene - HGNC]
KRTAP9-7:keratin associated protein 9-7 [Gene - HGNC]
KRTAP9-8:keratin associated protein 9-8 [Gene - HGNC]
KRTAP9-9:keratin associated protein 9-9 [Gene - HGNC]
KSR1:kinase suppressor of ras 1 [Gene - OMIM - HGNC]
KIF18B:kinesin family member 18B [Gene - OMIM - HGNC]
KIF19:kinesin family member 19 [Gene - OMIM - HGNC]
KIF1C:kinesin family member 1C [Gene - OMIM - HGNC]
KIF2B:kinesin family member 2B [Gene - OMIM - HGNC]
LPO:lactoperoxidase [Gene - OMIM - HGNC]
LRRC37A2:leucine rich repeat containing 37 member A2 [Gene - OMIM - HGNC]
LRRC37A3:leucine rich repeat containing 37 member A3 [Gene - OMIM - HGNC]
LRRC37A:leucine rich repeat containing 37A [Gene - OMIM - HGNC]
LRRC37B:leucine rich repeat containing 37B [Gene - OMIM - HGNC]
LRRC3C:leucine rich repeat containing 3C [Gene - HGNC]
LRRC45:leucine rich repeat containing 45 [Gene - HGNC]
LRRC46:leucine rich repeat containing 46 [Gene - OMIM - HGNC]
LRRC59:leucine rich repeat containing 59 [Gene - OMIM - HGNC]
LRRC75A:leucine rich repeat containing 75A [Gene - HGNC]
LIAT1:ligand of ATE1 [Gene - HGNC]
LINC02693:long intergenic non-protein coding RNA 2693 [Gene - HGNC]
LINC02875:long intergenic non-protein coding RNA 2875 [Gene - HGNC]
LINC02876:long intergenic non-protein coding RNA 2876 [Gene - HGNC]
KAT2A:lysine acetyltransferase 2A [Gene - OMIM - HGNC]
KAT7:lysine acetyltransferase 7 [Gene - OMIM - HGNC]
KDM6B:lysine demethylase 6B [Gene - OMIM - HGNC]
LYZL6:lysozyme like 6 [Gene - OMIM - HGNC]
MFSD11:major facilitator superfamily domain containing 11 [Gene - OMIM - HGNC]
MFSD6L:major facilitator superfamily domain containing 6 like [Gene - HGNC]
MRC2:mannose receptor C-type 2 [Gene - OMIM - HGNC]
MPDU1:mannose-P-dolichol utilization defect 1 [Gene - OMIM - HGNC]
MILR1:mast cell immunoglobulin like receptor 1 [Gene - HGNC]
MMP28:matrix metallopeptidase 28 [Gene - OMIM - HGNC]
MXRA7:matrix remodeling associated 7 [Gene - HGNC]
MBTD1:mbt domain containing 1 [Gene - OMIM - HGNC]
MED11:mediator complex subunit 11 [Gene - OMIM - HGNC]
MED13:mediator complex subunit 13 [Gene - OMIM - HGNC]
MED1:mediator complex subunit 1 [Gene - OMIM - HGNC]
MED24:mediator complex subunit 24 [Gene - OMIM - HGNC]
MED31:mediator complex subunit 31 [Gene - OMIM - HGNC]
MED9:mediator complex subunit 9 [Gene - OMIM - HGNC]
MEIOC:meiosis specific with coiled-coil domain [Gene - OMIM - HGNC]
MARCHF10:membrane associated ring-CH-type finger 10 [Gene - OMIM - HGNC]
MEOX1:mesenchyme homeobox 1 [Gene - OMIM - HGNC]
METRNL:meteorin like, glial cell differentiation regulator [Gene - OMIM - HGNC]
METTL16:methyltransferase 16, RNA N6-adenosine [Gene - HGNC]
METTL23:methyltransferase 23, arginine [Gene - OMIM - HGNC]
METTL2A:methyltransferase 2A, tRNA N3-cytidine [Gene - OMIM - HGNC]
MIR10A:microRNA 10a [Gene - OMIM - HGNC]
MIR132:microRNA 132 [Gene - OMIM - HGNC]
MIR144:microRNA 144 [Gene - OMIM - HGNC]
MIR152:microRNA 152 [Gene - OMIM - HGNC]
MIR193A:microRNA 193a [Gene - OMIM - HGNC]
MIR195:microRNA 195 [Gene - OMIM - HGNC]
MIR196A1:microRNA 196a-1 [Gene - OMIM - HGNC]
MIR212:microRNA 212 [Gene - OMIM - HGNC]
MIR21:microRNA 21 [Gene - OMIM - HGNC]
MIR22:microRNA 22 [Gene - OMIM - HGNC]
MIR338:microRNA 338 [Gene - OMIM - HGNC]
MIR33B:microRNA 33b [Gene - OMIM - HGNC]
MIR451A:microRNA 451a [Gene - OMIM - HGNC]
MFAP4:microfibril associated protein 4 [Gene - OMIM - HGNC]
MAPT:microtubule associated protein tau [Gene - OMIM - HGNC]
MIEN1:migration and invasion enhancer 1 [Gene - OMIM - HGNC]
MIR497HG:mir-497-195 cluster host gene [Gene - HGNC]
MINK1:misshapen like kinase 1 [Gene - OMIM - HGNC]
MIEF2:mitochondrial elongation factor 2 [Gene - OMIM - HGNC]
MTNAP1:mitochondrial nucleoid associated protein 1 [Gene - OMIM - HGNC]
MRM1:mitochondrial rRNA methyltransferase 1 [Gene - OMIM - HGNC]
MRM3:mitochondrial rRNA methyltransferase 3 [Gene - OMIM - HGNC]
MRPL10:mitochondrial ribosomal protein L10 [Gene - OMIM - HGNC]
MRPL12:mitochondrial ribosomal protein L12 [Gene - OMIM - HGNC]
MRPL27:mitochondrial ribosomal protein L27 [Gene - OMIM - HGNC]
MRPL38:mitochondrial ribosomal protein L38 [Gene - OMIM - HGNC]
MRPL45:mitochondrial ribosomal protein L45 [Gene - OMIM - HGNC]
MRPL58:mitochondrial ribosomal protein L58 [Gene - OMIM - HGNC]
MRPS23:mitochondrial ribosomal protein S23 [Gene - OMIM - HGNC]
MRPS7:mitochondrial ribosomal protein S7 [Gene - OMIM - HGNC]
MAPK7:mitogen-activated protein kinase 7 [Gene - OMIM - HGNC]
MAP2K3:mitogen-activated protein kinase kinase 3 [Gene - OMIM - HGNC]
MAP2K4:mitogen-activated protein kinase kinase 4 [Gene - OMIM - HGNC]
MAP2K6:mitogen-activated protein kinase kinase 6 [Gene - OMIM - HGNC]
MAP3K14:mitogen-activated protein kinase kinase kinase 14 [Gene - OMIM - HGNC]
MAP3K3:mitogen-activated protein kinase kinase kinase 3 [Gene - OMIM - HGNC]
MMD:monocyte to macrophage differentiation associated [Gene - OMIM - HGNC]
MSI2:musashi RNA binding protein 2 [Gene - OMIM - HGNC]
MYADML2:myeloid associated differentiation marker like 2 [Gene - HGNC]
MPO:myeloperoxidase [Gene - OMIM - HGNC]
MYOCD:myocardin [Gene - OMIM - HGNC]
MYO1C:myosin IC [Gene - OMIM - HGNC]
MYO1D:myosin ID [Gene - OMIM - HGNC]
MYO19:myosin XIX [Gene - OMIM - HGNC]
MYO15A:myosin XVA [Gene - OMIM - HGNC]
MYO18A:myosin XVIIIA [Gene - OMIM - OMIM - HGNC]
MYH10:myosin heavy chain 10 [Gene - OMIM - HGNC]
MYH13:myosin heavy chain 13 [Gene - OMIM - HGNC]
MYH1:myosin heavy chain 1 [Gene - OMIM - HGNC]
MYH2:myosin heavy chain 2 [Gene - OMIM - HGNC]
MYH3:myosin heavy chain 3 [Gene - OMIM - HGNC]
MYH4:myosin heavy chain 4 [Gene - OMIM - HGNC]
MYH8:myosin heavy chain 8 [Gene - OMIM - HGNC]
MYL4:myosin light chain 4 [Gene - OMIM - HGNC]
MPRIP:myosin phosphatase Rho interacting protein [Gene - OMIM - HGNC]
MTMR4:myotubularin related protein 4 [Gene - OMIM - HGNC]
NACA2:nascent polypeptide associated complex subunit alpha 2 [Gene - OMIM - HGNC]
NBR2:neighbor of BRCA1 lncRNA 2 [Gene - OMIM - HGNC]
NLK:nemo like kinase [Gene - OMIM - HGNC]
NGFR:nerve growth factor receptor [Gene - OMIM - HGNC]
NTN1:netrin 1 [Gene - OMIM - HGNC]
NEURL4:neuralized E3 ubiquitin protein ligase 4 [Gene - OMIM - HGNC]
NXPH3:neurexophilin 3 [Gene - OMIM - HGNC]
NF1:neurofibromin 1 [Gene - OMIM - HGNC]
NLGN2:neuroligin 2 [Gene - OMIM - HGNC]
NEUROD2:neuronal differentiation 2 [Gene - OMIM - HGNC]
NPTX1:neuronal pentraxin 1 [Gene - OMIM - HGNC]
NPB:neuropeptide B [Gene - OMIM - HGNC]
NOS2:nitric oxide synthase 2 [Gene - OMIM - HGNC]
NOG:noggin [Gene - OMIM - HGNC]
NLE1:notchless homolog 1 [Gene - OMIM - HGNC]
NOTUM:notum, palmitoleoyl-protein carboxylesterase [Gene - OMIM - HGNC]
NUFIP2:nuclear FMR1 interacting protein 2 [Gene - OMIM - HGNC]
NCBP3:nuclear cap binding subunit 3 [Gene - OMIM - HGNC]
NARF:nuclear prelamin A recognition factor [Gene - OMIM - HGNC]
NCOR1:nuclear receptor corepressor 1 [Gene - OMIM - HGNC]
NR1D1:nuclear receptor subfamily 1 group D member 1 [Gene - OMIM - HGNC]
NSRP1:nuclear speckle splicing regulatory protein 1 [Gene - OMIM - HGNC]
NOL11:nucleolar protein 11 [Gene - OMIM - HGNC]
NUP85:nucleoporin 85 [Gene - OMIM - HGNC]
NUP88:nucleoporin 88 [Gene - OMIM - HGNC]
NXN:nucleoredoxin [Gene - OMIM - HGNC]
NDEL1:nudE neurodevelopment protein 1 like 1 [Gene - OMIM - HGNC]
OR1A1:olfactory receptor family 1 subfamily A member 1 [Gene - OMIM - HGNC]
OR1A2:olfactory receptor family 1 subfamily A member 2 [Gene - OMIM - HGNC]
OR1D2:olfactory receptor family 1 subfamily D member 2 [Gene - OMIM - HGNC]
OR1D5:olfactory receptor family 1 subfamily D member 5 [Gene - HGNC]
OR1E1:olfactory receptor family 1 subfamily E member 1 [Gene - HGNC]
OR1E2:olfactory receptor family 1 subfamily E member 2 [Gene - HGNC]
OR1G1:olfactory receptor family 1 subfamily G member 1 [Gene - HGNC]
OR3A1:olfactory receptor family 3 subfamily A member 1 [Gene - HGNC]
OR3A2:olfactory receptor family 3 subfamily A member 2 [Gene - HGNC]
OR3A3:olfactory receptor family 3 subfamily A member 3 [Gene - HGNC]
OR4D1:olfactory receptor family 4 subfamily D member 1 [Gene - HGNC]
OR4D2:olfactory receptor family 4 subfamily D member 2 [Gene - HGNC]
OMG:oligodendrocyte myelin glycoprotein [Gene - OMIM - HGNC]
OTOP2:otopetrin 2 [Gene - OMIM - HGNC]
OTOP3:otopetrin 3 [Gene - OMIM - HGNC]
ODF4:outer dense fiber of sperm tails 4 [Gene - OMIM - HGNC]
ODAD4:outer dynein arm docking complex subunit 4 [Gene - OMIM - HGNC]
OXLD1:oxidoreductase like domain containing 1 [Gene - HGNC]
OSBPL7:oxysterol binding protein like 7 [Gene - OMIM - HGNC]
PPY:pancreatic polypeptide [Gene - OMIM - HGNC]
PYY:peptide YY [Gene - OMIM - HGNC]
PTRH2:peptidyl-tRNA hydrolase 2 [Gene - OMIM - HGNC]
PER1:period circadian regulator 1 [Gene - OMIM - HGNC]
PMP22:peripheral myelin protein 22 [Gene - OMIM - HGNC]
PEX12:peroxisomal biogenesis factor 12 [Gene - OMIM - HGNC]
PNMT:phenylethanolamine N-methyltransferase [Gene - OMIM - HGNC]
PCYT2:phosphate cytidylyltransferase 2, ethanolamine [Gene - OMIM - HGNC]
PCTP:phosphatidylcholine transfer protein [Gene - OMIM - HGNC]
PEMT:phosphatidylethanolamine N-methyltransferase [Gene - OMIM - HGNC]
PGS1:phosphatidylglycerophosphate synthase 1 [Gene - OMIM - HGNC]
PIGL:phosphatidylinositol glycan anchor biosynthesis class L [Gene - OMIM - HGNC]
PIGS:phosphatidylinositol glycan anchor biosynthesis class S [Gene - OMIM - HGNC]
PIGW:phosphatidylinositol glycan anchor biosynthesis class W [Gene - OMIM - HGNC]
PITPNA:phosphatidylinositol transfer protein alpha [Gene - OMIM - HGNC]
PITPNC1:phosphatidylinositol transfer protein cytoplasmic 1 [Gene - OMIM - HGNC]
PIP4K2B:phosphatidylinositol-5-phosphate 4-kinase type 2 beta [Gene - OMIM - HGNC]
PDE6G:phosphodiesterase 6G [Gene - OMIM - HGNC]
PHOSPHO1:phosphoethanolamine/phosphocholine phosphatase 1 [Gene - HGNC]
PIRT:phosphoinositide interacting regulator of transient receptor potential channels [Gene - OMIM - HGNC]
PIK3R5:phosphoinositide-3-kinase regulatory subunit 5 [Gene - OMIM - HGNC]
PIK3R6:phosphoinositide-3-kinase regulatory subunit 6 [Gene - OMIM - HGNC]
PLCD3:phospholipase C delta 3 [Gene - OMIM - HGNC]
PLD6:phospholipase D family member 6 [Gene - OMIM - HGNC]
PLD2:phospholipase D2 [Gene - OMIM - HGNC]
PLSCR3:phospholipid scramblase 3 [Gene - OMIM - HGNC]
PRPSAP1:phosphoribosyl pyrophosphate synthetase associated protein 1 [Gene - OMIM - HGNC]
PRPSAP2:phosphoribosyl pyrophosphate synthetase associated protein 2 [Gene - OMIM - HGNC]
PFAS:phosphoribosylformylglycinamidine synthase [Gene - OMIM - HGNC]
PRCD:photoreceptor disc component [Gene - OMIM - HGNC]
PIPOX:pipecolic acid and sarcosine oxidase [Gene - OMIM - HGNC]
PAFAH1B1:platelet activating factor acetylhydrolase 1b regulatory subunit 1 [Gene - OMIM - HGNC]
PECAM1:platelet and endothelial cell adhesion molecule 1 [Gene - OMIM - HGNC]
PLEKHM1:pleckstrin homology and RUN domain containing M1 [Gene - OMIM - HGNC]
PLEKHH3:pleckstrin homology, MyTH4 and FERM domain containing H3 [Gene - HGNC]
PLXDC1:plexin domain containing 1 [Gene - OMIM - HGNC]
PCGF2:polycomb group ring finger 2 [Gene - OMIM - HGNC]
PGAP3:post-GPI attachment to proteins phospholipase 3 [Gene - OMIM - HGNC]
KCTD11:potassium channel tetramerization domain containing 11 [Gene - OMIM - HGNC]
KCTD2:potassium channel tetramerization domain containing 2 [Gene - OMIM - HGNC]
KCNJ12:potassium inwardly rectifying channel subfamily J member 12 [Gene - OMIM - HGNC]
KCNJ16:potassium inwardly rectifying channel subfamily J member 16 [Gene - OMIM - HGNC]
KCNJ2:potassium inwardly rectifying channel subfamily J member 2 [Gene - OMIM - HGNC]
KCNAB3:potassium voltage-gated channel subfamily A regulatory beta subunit 3 [Gene - OMIM - HGNC]
KCNH4:potassium voltage-gated channel subfamily H member 4 [Gene - OMIM - HGNC]
KCNH6:potassium voltage-gated channel subfamily H member 6 [Gene - OMIM - HGNC]
PRPF8:pre-mRNA processing factor 8 [Gene - OMIM - HGNC]
PFN1:profilin 1 [Gene - OMIM - HGNC]
PHB1:prohibitin 1 [Gene - OMIM - HGNC]
PRR11:proline rich 11 [Gene - OMIM - HGNC]
PRR15L:proline rich 15 like [Gene - HGNC]
PRR29:proline rich 29 [Gene - HGNC]
PELP1:proline, glutamate and leucine rich protein 1 [Gene - OMIM - HGNC]
P3H4:prolyl 3-hydroxylase family member 4 (inactive) [Gene - OMIM - HGNC]
P4HB:prolyl 4-hydroxylase subunit beta [Gene - OMIM - HGNC]
PTGES3L:prostaglandin E synthase 3 like [Gene - HGNC]
PSMB3:proteasome 20S subunit beta 3 [Gene - OMIM - HGNC]
PSMB6:proteasome 20S subunit beta 6 [Gene - OMIM - HGNC]
PSMC5:proteasome 26S subunit, ATPase 5 [Gene - OMIM - HGNC]
PSMD11:proteasome 26S subunit, non-ATPase 11 [Gene - OMIM - HGNC]
PSMD12:proteasome 26S subunit, non-ATPase 12 [Gene - OMIM - HGNC]
PSMD3:proteasome 26S subunit, non-ATPase 3 [Gene - OMIM - HGNC]
PSME3:proteasome activator subunit 3 [Gene - OMIM - HGNC]
PROCA1:protein interacting with cyclin A1 [Gene - OMIM - HGNC]
PRKCA:protein kinase C alpha [Gene - OMIM - HGNC]
PRKAR1A:protein kinase cAMP-dependent type I regulatory subunit alpha [Gene - OMIM - HGNC]
PPP1R1B:protein phosphatase 1 regulatory inhibitor subunit 1B [Gene - OMIM - HGNC]
PPP1R27:protein phosphatase 1 regulatory subunit 27 [Gene - HGNC]
PPP1R9B:protein phosphatase 1 regulatory subunit 9B [Gene - OMIM - HGNC]
PPM1D:protein phosphatase, Mg2+/Mn2+ dependent 1D [Gene - OMIM - HGNC]
PPM1E:protein phosphatase, Mg2+/Mn2+ dependent 1E [Gene - OMIM - HGNC]
P2RX1:purinergic receptor P2X 1 [Gene - OMIM - HGNC]
P2RX5:purinergic receptor P2X 5 [Gene - OMIM - HGNC]
PNPO:pyridoxamine 5'-phosphate oxidase [Gene - OMIM - HGNC]
PYCR1:pyrroline-5-carboxylate reductase 1 [Gene - OMIM - HGNC]
PDK2:pyruvate dehydrogenase kinase 2 [Gene - OMIM - HGNC]
RABEP1:rabaptin, RAB GTPase binding effector protein 1 [Gene - OMIM - HGNC]
RPH3AL:rabphilin 3A like (without C2 domains) [Gene - OMIM - HGNC]
RSAD1:radical S-adenosyl methionine domain containing 1 [Gene - OMIM - HGNC]
RHOT1:ras homolog family member T1 [Gene - OMIM - HGNC]
RASD1:ras related dexamethasone induced 1 [Gene - OMIM - HGNC]
RAMP2:receptor activity modifying protein 2 [Gene - OMIM - HGNC]
RCVRN:recoverin [Gene - OMIM - HGNC]
RFLNB:refilin B [Gene - OMIM - HGNC]
RGS9:regulator of G protein signaling 9 [Gene - OMIM - HGNC]
RPTOR:regulatory associated protein of MTOR complex 1 [Gene - OMIM - HGNC]
RPA1:replication protein A1 [Gene - OMIM - HGNC]
RPRML:reprimo like [Gene - HGNC]
RTN4RL1:reticulon 4 receptor like 1 [Gene - OMIM - HGNC]
RETREG3:reticulophagy regulator family member 3 [Gene - OMIM - HGNC]
RAI1:retinoic acid induced 1 [Gene - OMIM - HGNC]
RARA:retinoic acid receptor alpha [Gene - OMIM - HGNC]
RHBDF2:rhomboid 5 homolog 2 [Gene - OMIM - HGNC]
RHBDL3:rhomboid like 3 [Gene - OMIM - HGNC]
RNASEK:ribonuclease K [Gene - OMIM - HGNC]
RPL19:ribosomal protein L19 [Gene - OMIM - HGNC]
RPL23:ribosomal protein L23 [Gene - OMIM - HGNC]
RPL23A:ribosomal protein L23a [Gene - OMIM - HGNC]
RPL26:ribosomal protein L26 [Gene - OMIM - HGNC]
RPL27:ribosomal protein L27 [Gene - OMIM - HGNC]
RPL38:ribosomal protein L38 [Gene - OMIM - HGNC]
RPS6KB1:ribosomal protein S6 kinase B1 [Gene - OMIM - HGNC]
RFFL:ring finger and FYVE like domain containing E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
RNF112:ring finger protein 112 [Gene - OMIM - HGNC]
RNF135:ring finger protein 135 [Gene - OMIM - HGNC]
RNF157:ring finger protein 157 [Gene - HGNC]
RNF167:ring finger protein 167 [Gene - OMIM - HGNC]
RNF213:ring finger protein 213 [Gene - OMIM - HGNC]
RNF222:ring finger protein 222 [Gene - HGNC]
RNF43:ring finger protein 43 [Gene - OMIM - HGNC]
RNFT1:ring finger protein, transmembrane 1 [Gene - OMIM - HGNC]
STH:saitohin [Gene - OMIM - HGNC]
SGCA:sarcoglycan alpha [Gene - OMIM - HGNC]
SCARF1:scavenger receptor class F member 1 [Gene - OMIM - HGNC]
SLFN11:schlafen family member 11 [Gene - OMIM - HGNC]
SLFN12L:schlafen family member 12 like [Gene - OMIM - HGNC]
SLFN12:schlafen family member 12 [Gene - OMIM - HGNC]
SLFN13:schlafen family member 13 [Gene - OMIM - HGNC]
SLFN14:schlafen family member 14 [Gene - OMIM - HGNC]
SLFN5:schlafen family member 5 [Gene - OMIM - HGNC]
SOST:sclerostin [Gene - OMIM - HGNC]
SCRN2:secernin 2 [Gene - OMIM - HGNC]
SECTM1:secreted and transmembrane 1 [Gene - OMIM - HGNC]
SHPK:sedoheptulokinase [Gene - OMIM - HGNC]
SEZ6:seizure related 6 homolog [Gene - OMIM - HGNC]
SEPTIN4:septin 4 [Gene - OMIM - HGNC]
SEPTIN9:septin 9 [Gene - OMIM - HGNC]
SRSF1:serine and arginine rich splicing factor 1 [Gene - OMIM - HGNC]
SRSF2:serine and arginine rich splicing factor 2 [Gene - OMIM - HGNC]
SCPEP1:serine carboxypeptidase 1 [Gene - OMIM - HGNC]
SHMT1:serine hydroxymethyltransferase 1 [Gene - OMIM - HGNC]
SRR:serine racemase [Gene - OMIM - HGNC]
SERPINF1:serpin family F member 1 [Gene - OMIM - HGNC]
SERPINF2:serpin family F member 2 [Gene - OMIM - HGNC]
SHBG:sex hormone binding globulin [Gene - OMIM - HGNC]
SHISA6:shisa family member 6 [Gene - OMIM - HGNC]
SDK2:sidekick cell adhesion molecule 2 [Gene - OMIM - HGNC]
SPPL2C:signal peptide peptidase like 2C [Gene - OMIM - HGNC]
SRP68:signal recognition particle 68 [Gene - OMIM - HGNC]
STAT3:signal transducer and activator of transcription 3 [Gene - OMIM - HGNC]
STAT5A:signal transducer and activator of transcription 5A [Gene - OMIM - HGNC]
STAT5B:signal transducer and activator of transcription 5B [Gene - OMIM - HGNC]
SIRT7:sirtuin 7 [Gene - OMIM - HGNC]
SSH2:slingshot protein phosphatase 2 [Gene - OMIM - HGNC]
SGSM2:small G protein signaling modulator 2 [Gene - OMIM - HGNC]
SMIM5:small integral membrane protein 5 [Gene - HGNC]
SMIM6:small integral membrane protein 6 [Gene - OMIM - HGNC]
SNORD3A:small nucleolar RNA, C/D box 3A [Gene - OMIM - HGNC]
SUMO2:small ubiquitin like modifier 2 [Gene - OMIM - HGNC]
SMTNL2:smoothelin like 2 [Gene - HGNC]
SCN4A:sodium voltage-gated channel alpha subunit 4 [Gene - OMIM - HGNC]
SLC13A2:solute carrier family 13 member 2 [Gene - OMIM - HGNC]
SLC13A5:solute carrier family 13 member 5 [Gene - OMIM - HGNC]
SLC16A11:solute carrier family 16 member 11 [Gene - OMIM - HGNC]
SLC16A13:solute carrier family 16 member 13 [Gene - HGNC]
SLC16A3:solute carrier family 16 member 3 [Gene - OMIM - HGNC]
SLC16A5:solute carrier family 16 member 5 [Gene - OMIM - HGNC]
SLC16A6:solute carrier family 16 member 6 [Gene - OMIM - HGNC]
SLC2A4:solute carrier family 2 member 4 [Gene - OMIM - HGNC]
SLC25A10:solute carrier family 25 member 10 [Gene - OMIM - HGNC]
SLC25A11:solute carrier family 25 member 11 [Gene - OMIM - HGNC]
SLC25A19:solute carrier family 25 member 19 [Gene - OMIM - HGNC]
SLC25A35:solute carrier family 25 member 35 [Gene - OMIM - HGNC]
SLC25A39:solute carrier family 25 member 39 [Gene - OMIM - HGNC]
SLC26A11:solute carrier family 26 member 11 [Gene - OMIM - HGNC]
SLC35B1:solute carrier family 35 member B1 [Gene - OMIM - HGNC]
SLC35G3:solute carrier family 35 member G3 [Gene - HGNC]
SLC35G6:solute carrier family 35 member G6 [Gene - HGNC]
SLC38A10:solute carrier family 38 member 10 [Gene - OMIM - HGNC]
SLC39A11:solute carrier family 39 member 11 [Gene - OMIM - HGNC]
SLC4A1:solute carrier family 4 member 1 (Diego blood group) [Gene - OMIM - HGNC]
SLC43A2:solute carrier family 43 member 2 [Gene - OMIM - HGNC]
SLC46A1:solute carrier family 46 member 1 [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]
SLC52A1:solute carrier family 52 member 1 [Gene - OMIM - HGNC]
SLC6A4:solute carrier family 6 member 4 [Gene - OMIM - HGNC]
SSTR2:somatostatin receptor 2 [Gene - OMIM - HGNC]
SNX11:sorting nexin 11 [Gene - OMIM - HGNC]
SPOP:speckle type BTB/POZ protein [Gene - OMIM - HGNC]
SPDYE4:speedy/RINGO cell cycle regulator family member E4 [Gene - OMIM - HGNC]
SPACA3:sperm acrosome associated 3 [Gene - OMIM - HGNC]
SPECC1:sperm antigen with calponin homology and coiled-coil domains 1 [Gene - OMIM - HGNC]
SPAG5:sperm associated antigen 5 [Gene - OMIM - HGNC]
SPAG7:sperm associated antigen 7 [Gene - OMIM - HGNC]
SPAG9:sperm associated antigen 9 [Gene - OMIM - HGNC]
SPMAP1:sperm microtubule associated protein 1 [Gene - HGNC]
SPEM1:spermatid maturation 1 [Gene - OMIM - HGNC]
SPATA20:spermatogenesis associated 20 [Gene - OMIM - HGNC]
SPATA22:spermatogenesis associated 22 [Gene - OMIM - HGNC]
SPATA32:spermatogenesis associated 32 [Gene - HGNC]
SAT2:spermidine/spermine N1-acetyltransferase family member 2 [Gene - OMIM - HGNC]
SPHK1:sphingosine kinase 1 [Gene - OMIM - HGNC]
SKA2:spindle and kinetochore associated complex subunit 2 [Gene - OMIM - HGNC]
SKAP1:src kinase associated phosphoprotein 1 [Gene - OMIM - HGNC]
SARM1:sterile alpha and TIR motif containing 1 [Gene - OMIM - HGNC]
SAMD14:sterile alpha motif domain containing 14 [Gene - OMIM - HGNC]
SREBF1:sterol regulatory element binding transcription factor 1 [Gene - OMIM - HGNC]
SDF2:stromal cell derived factor 2 [Gene - OMIM - HGNC]
SOCS3:suppressor of cytokine signaling 3 [Gene - OMIM - HGNC]
SOCS7:suppressor of cytokine signaling 7 [Gene - OMIM - HGNC]
SYNGR2:synaptogyrin 2 [Gene - OMIM - HGNC]
SYNRG:synergin gamma [Gene - OMIM - HGNC]
STX8:syntaxin 8 [Gene - OMIM - HGNC]
STXBP4:syntaxin binding protein 4 [Gene - OMIM - HGNC]
SCO1:synthesis of cytochrome C oxidase 1 [Gene - OMIM - HGNC]
TSEN54:tRNA splicing endonuclease subunit 54 [Gene - OMIM - HGNC]
TRR-TCT2-1:tRNA-Arg (anticodon TCT) 2-1 [Gene - OMIM - HGNC]
TRQ-CTG1-5:tRNA-Gln (anticodon CTG) 1-5 [Gene - OMIM - HGNC]
TRQ-TTG1-1:tRNA-Gln (anticodon TTG) 1-1 [Gene - OMIM - HGNC]
TRG-GCC2-6:tRNA-Gly (anticodon GCC) 2-6 [Gene - OMIM - HGNC]
TRL-TAG1-1:tRNA-Leu (anticodon TAG) 1-1 [Gene - OMIM - HGNC]
TRK-TTT3-5:tRNA-Lys (anticodon TTT) 3-5 [Gene - OMIM - HGNC]
TAC4:tachykinin precursor 4 [Gene - OMIM - HGNC]
TOM1L1:target of myb1 like 1 membrane trafficking protein [Gene - OMIM - HGNC]
TOM1L2:target of myb1 like 2 membrane trafficking protein [Gene - OMIM - HGNC]
TEKT1:tektin 1 [Gene - OMIM - HGNC]
TEKT3:tektin 3 [Gene - OMIM - HGNC]
TNS4:tensin 4 [Gene - OMIM - HGNC]
TEX14:testis expressed 14, intercellular bridge forming factor [Gene - OMIM - HGNC]
TEX19:testis expressed 19 [Gene - OMIM - HGNC]
TEX2:testis expressed 2 [Gene - OMIM - HGNC]
TSPAN10:tetraspanin 10 [Gene - HGNC]
TTC19:tetratricopeptide repeat domain 19 [Gene - OMIM - HGNC]
TANC2:tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 [Gene - OMIM - HGNC]
TXNDC17:thioredoxin domain containing 17 [Gene - OMIM - HGNC]
TK1:thymidine kinase 1 [Gene - OMIM - HGNC]
THRA:thyroid hormone receptor alpha [Gene - OMIM - HGNC]
TCAP:titin-cap [Gene - OMIM - HGNC]
TLK2:tousled like kinase 2 [Gene - OMIM - HGNC]
TRAPPC1:trafficking protein particle complex subunit 1 [Gene - OMIM - HGNC]
TRARG1:trafficking regulator of GLUT4 (SLC2A4) 1 [Gene - OMIM - HGNC]
TVP23B:trans-golgi network vesicle protein 23 homolog B [Gene - HGNC]
TVP23C:trans-golgi network vesicle protein 23 homolog C [Gene - HGNC]
TEFM:transcription elongation factor, mitochondrial [Gene - OMIM - HGNC]
TADA2A:transcriptional adaptor 2A [Gene - OMIM - HGNC]
TOB1:transducer of ERBB2, 1 [Gene - OMIM - HGNC]
TRPV1:transient receptor potential cation channel subfamily V member 1 [Gene - OMIM - HGNC]
TRPV2:transient receptor potential cation channel subfamily V member 2 [Gene - OMIM - HGNC]
TRPV3:transient receptor potential cation channel subfamily V member 3 [Gene - OMIM - HGNC]
TACO1:translational activator of cytochrome c oxidase I [Gene - OMIM - HGNC]
TIMM22:translocase of inner mitochondrial membrane 22 [Gene - OMIM - HGNC]
TM4SF5:transmembrane 4 L six family member 5 [Gene - OMIM - HGNC]
TMIGD1:transmembrane and immunoglobulin domain containing 1 [Gene - HGNC]
TMUB2:transmembrane and ubiquitin like domain containing 2 [Gene - HGNC]
TMC6:transmembrane channel like 6 [Gene - OMIM - HGNC]
TMC8:transmembrane channel like 8 [Gene - OMIM - HGNC]
TMEM100:transmembrane protein 100 [Gene - OMIM - HGNC]
TMEM101:transmembrane protein 101 [Gene - HGNC]
TMEM102:transmembrane protein 102 [Gene - OMIM - HGNC]
TMEM104:transmembrane protein 104 [Gene - HGNC]
TMEM106A:transmembrane protein 106A [Gene - HGNC]
TMEM107:transmembrane protein 107 [Gene - OMIM - HGNC]
TMEM11:transmembrane protein 11 [Gene - OMIM - HGNC]
TMEM132E:transmembrane protein 132E [Gene - OMIM - HGNC]
TMEM199:transmembrane protein 199 [Gene - OMIM - HGNC]
TMEM220:transmembrane protein 220 [Gene - HGNC]
TMEM235:transmembrane protein 235 [Gene - OMIM - HGNC]
TMEM256:transmembrane protein 256 [Gene - OMIM - HGNC]
TMEM88:transmembrane protein 88 [Gene - OMIM - HGNC]
TMEM92:transmembrane protein 92 [Gene - OMIM - HGNC]
TMEM94:transmembrane protein 94 [Gene - OMIM - HGNC]
TMEM95:transmembrane protein 95 [Gene - OMIM - HGNC]
TMEM97:transmembrane protein 97 [Gene - OMIM - HGNC]
TMEM98:transmembrane protein 98 [Gene - OMIM - HGNC]
TNRC6C:trinucleotide repeat containing adaptor 6C [Gene - OMIM - HGNC]
TRIM16L:tripartite motif containing 16 like [Gene - HGNC]
TRIM16:tripartite motif containing 16 [Gene - OMIM - HGNC]
TRIM25:tripartite motif containing 25 [Gene - OMIM - HGNC]
TRIM37:tripartite motif containing 37 [Gene - OMIM - HGNC]
TRIM47:tripartite motif containing 47 [Gene - OMIM - HGNC]
TRIM65:tripartite motif containing 65 [Gene - OMIM - HGNC]
TUBD1:tubulin delta 1 [Gene - OMIM - HGNC]
TBCD:tubulin folding cofactor D [Gene - OMIM - HGNC]
TUBG1:tubulin gamma 1 [Gene - OMIM - HGNC]
TUBG2:tubulin gamma 2 [Gene - OMIM - HGNC]
TTLL6:tubulin tyrosine ligase like 6 [Gene - OMIM - HGNC]
TP53I13:tumor protein p53 inducible protein 13 [Gene - HGNC]
TP53:tumor protein p53 [Gene - OMIM - HGNC]
TTYH2:tweety family member 2 [Gene - OMIM - HGNC]
YWHAE:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon [Gene - OMIM - HGNC]
TNK1:tyrosine kinase non receptor 1 [Gene - OMIM - HGNC]
UBB:ubiquitin B [Gene - OMIM - HGNC]
UBE2G1:ubiquitin conjugating enzyme E2 G1 [Gene - OMIM - HGNC]
UBE2O:ubiquitin conjugating enzyme E2 O [Gene - OMIM - HGNC]
UBE2Z:ubiquitin conjugating enzyme E2 Z [Gene - OMIM - HGNC]
USP22:ubiquitin specific peptidase 22 [Gene - OMIM - HGNC]
USP32:ubiquitin specific peptidase 32 [Gene - OMIM - HGNC]
USP36:ubiquitin specific peptidase 36 [Gene - OMIM - HGNC]
USP43:ubiquitin specific peptidase 43 [Gene - HGNC]
USP6:ubiquitin specific peptidase 6 [Gene - OMIM - HGNC]
UNC119:unc-119 lipid binding chaperone [Gene - OMIM - HGNC]
UNC13D:unc-13 homolog D [Gene - OMIM - HGNC]
UNC45B:unc-45 myosin chaperone B [Gene - OMIM - HGNC]
ULK2:unc-51 like autophagy activating kinase 2 [Gene - OMIM - HGNC]
LOC100288728:uncharacterized LOC100288728 [Gene]
UNK:unk zinc finger [Gene - OMIM - HGNC]
UBTF:upstream binding transcription factor [Gene - OMIM - HGNC]
UTS2R:urotensin 2 receptor [Gene - OMIM - HGNC]
VPS25:vacuolar protein sorting 25 homolog [Gene - OMIM - HGNC]
VMP1:vacuole membrane protein 1 [Gene - OMIM - HGNC]
VEZF1:vascular endothelial zinc finger 1 [Gene - OMIM - HGNC]
VAT1:vesicle amine transport 1 [Gene - OMIM - HGNC]
VAMP2:vesicle associated membrane protein 2 [Gene - OMIM - HGNC]
VMO1:vitelline membrane outer layer 1 homolog [Gene - HGNC]
VTN:vitronectin [Gene - OMIM - HGNC]
XYLT2:xylosyltransferase 2 [Gene - OMIM - HGNC]
YPEL2:yippee like 2 [Gene - OMIM - HGNC]
ZACN:zinc activated ion channel [Gene - OMIM - HGNC]
ZNHIT3:zinc finger HIT-type containing 3 [Gene - OMIM - HGNC]
ZMYND15:zinc finger MYND-type containing 15 [Gene - OMIM - HGNC]
ZSWIM7:zinc finger SWIM-type containing 7 [Gene - OMIM - HGNC]
ZZEF1:zinc finger ZZ-type and EF-hand domain containing 1 [Gene - OMIM - HGNC]
ZBTB4:zinc finger and BTB domain containing 4 [Gene - OMIM - HGNC]
ZNF18:zinc finger protein 18 [Gene - OMIM - HGNC]
ZNF207:zinc finger protein 207 [Gene - OMIM - HGNC]
ZNF232:zinc finger protein 232 [Gene - OMIM - HGNC]
ZNF286A:zinc finger protein 286A [Gene - HGNC]
ZNF287:zinc finger protein 287 [Gene - HGNC]
ZNF385C:zinc finger protein 385C [Gene - HGNC]
ZNF594:zinc finger protein 594 [Gene - HGNC]
ZNF624:zinc finger protein 624 [Gene - HGNC]
ZNF652:zinc finger protein 652 [Gene - OMIM - HGNC]
ZNF750:zinc finger protein 750 [Gene - OMIM - HGNC]
ZNF830:zinc finger protein 830 [Gene - HGNC]
ZPBP2:zona pellucida binding protein 2 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

17p13.3-q25.3

Genomic location:

Chr17: 526 - 81041938 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3

HGVS:

Links:

dbVar: nssv13655880; dbVar: nsv2769779

Observations:

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

Recent activity

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Acral Nevus
Acral Nevus

MedGen
Nevus psiloliparus
Nevus psiloliparus

MedGen
Compound Nevus
Compound Nevus

MedGen
Desmoplastic nevus
Desmoplastic nevus

MedGen
TXLNG taxilin gamma [Homo sapiens]
TXLNG taxilin gamma [Homo sapiens]
Gene ID:55787

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000584490	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (Dec 2, 2014)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000584490

ISCA site 1

See additional submitters

no assertion criteria provided

Pathogenic
(Dec 2, 2014)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
human	not provided	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]

PMID:: 20466091
PMCID:: PMC2869000

Details of each submission

From ISCA site 1, SCV000584490.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	human	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Sep 1, 2024

ClinVar

Relating variation to medicine