GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) AND Trisomy X syndrome
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV002280666.1
Allele description [Variation Report for GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)]
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)
- Genes:
- ALAS2:5'-aminolevulinate synthase 2 [Gene - OMIM - HGNC]
- HTR2C:5-hydroxytryptamine receptor 2C [Gene - OMIM - HGNC]
- PFKFB1:6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 [Gene - OMIM - HGNC]
- ARAF:A-Raf proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
- AKAP14:A-kinase anchoring protein 14 [Gene - OMIM - HGNC]
- AKAP4:A-kinase anchoring protein 4 [Gene - OMIM - HGNC]
- ARL13A:ADP ribosylation factor like GTPase 13A [Gene - HGNC]
- AFF2:ALF transcription elongation factor 2 [Gene - OMIM - HGNC]
- ALG13:ALG13 UDP-N-acetylglucosaminyltransferase subunit [Gene - OMIM - HGNC]
- AMMECR1:AMMECR nuclear protein 1 [Gene - OMIM - HGNC]
- AMER1:APC membrane recruitment protein 1 [Gene - OMIM - HGNC]
- ARMCX3-AS1:ARMCX3 antisense RNA 1 [Gene - HGNC]
- ARMCX5-GPRASP2:ARMCX5-GPRASP2 readthrough [Gene - HGNC]
- ARSD-AS1:ARSD antisense RNA 1 [Gene - HGNC]
- ABCB7:ATP binding cassette subfamily B member 7 [Gene - OMIM - HGNC]
- ABCD1:ATP binding cassette subfamily D member 1 [Gene - OMIM - HGNC]
- ATP6AP1:ATPase H+ transporting accessory protein 1 [Gene - OMIM - HGNC]
- ATP6AP2:ATPase H+ transporting accessory protein 2 [Gene - OMIM - HGNC]
- ATP1B4:ATPase Na+/K+ transporting family member beta 4 [Gene - OMIM - HGNC]
- ATP7A:ATPase copper transporting alpha [Gene - OMIM - HGNC]
- ATP11C:ATPase phospholipid transporting 11C [Gene - OMIM - HGNC]
- ATP2B3:ATPase plasma membrane Ca2+ transporting 3 [Gene - OMIM - HGNC]
- ATRX:ATRX chromatin remodeler [Gene - OMIM - HGNC]
- BCAP31:B cell receptor associated protein 31 [Gene - OMIM - HGNC]
- BCORL1:BCL6 corepressor like 1 [Gene - OMIM - HGNC]
- BCOR:BCL6 corepressor [Gene - OMIM - HGNC]
- BCLAF3:BCLAF1 and THRAP3 family member 3 [Gene - HGNC]
- BEND2:BEN domain containing 2 [Gene - HGNC]
- BMX:BMX non-receptor tyrosine kinase [Gene - OMIM - HGNC]
- BRCC3:BRCA1/BRCA2-containing complex subunit 3 [Gene - OMIM - HGNC]
- BTK:Bruton tyrosine kinase [Gene - OMIM - HGNC]
- CXCR3:C-X-C motif chemokine receptor 3 [Gene - OMIM - HGNC]
- CMC4:C-X9-C motif containing 4 [Gene - OMIM - HGNC]
- C1GALT1C1:C1GALT1 specific chaperone 1 [Gene - OMIM - HGNC]
- CD40LG:CD40 ligand [Gene - OMIM - HGNC]
- CD99L2:CD99 molecule like 2 [Gene - OMIM - HGNC]
- CHM:CHM Rab escort protein [Gene - OMIM - HGNC]
- CPXCR1:CPX chromosome region candidate 1 [Gene - OMIM - HGNC]
- CSAG3:CSAG family member 3 [Gene - OMIM - HGNC]
- CTPS2:CTP synthase 2 [Gene - OMIM - HGNC]
- CBLL2:Cbl proto-oncogene like 2 [Gene - HGNC]
- CITED1:Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 [Gene - OMIM - HGNC]
- ARHGEF9:Cdc42 guanine nucleotide exchange factor 9 [Gene - OMIM - HGNC]
- DCAF12L1:DDB1 and CUL4 associated factor 12 like 1 [Gene - HGNC]
- DCAF12L2:DDB1 and CUL4 associated factor 12 like 2 [Gene - HGNC]
- DCAF8L1:DDB1 and CUL4 associated factor 8 like 1 [Gene - HGNC]
- DCAF8L2:DDB1 and CUL4 associated factor 8 like 2 [Gene - HGNC]
- DDX3X:DEAD-box helicase 3 X-linked [Gene - OMIM - HGNC]
- DDX53:DEAD-box helicase 53 [Gene - OMIM - HGNC]
- DMRTC1:DMRT like family C1 [Gene - OMIM - HGNC]
- DMRTC1B:DMRT like family C1B [Gene - HGNC]
- POLA1:DNA polymerase alpha 1, catalytic subunit [Gene - OMIM - HGNC]
- DANT2:DXZ4 associated non-coding transcript 2, distal [Gene - OMIM - HGNC]
- ELF4:E74 like ETS transcription factor 4 [Gene - OMIM - HGNC]
- EBP:EBP cholestenol delta-isomerase [Gene - OMIM - HGNC]
- EFHC2:EF-hand domain containing 2 [Gene - OMIM - HGNC]
- EGFL6:EGF like domain multiple 6 [Gene - OMIM - HGNC]
- ERCC6L:ERCC excision repair 6 like, spindle assembly checkpoint helicase [Gene - OMIM - HGNC]
- ERAS:ES cell expressed Ras [Gene - OMIM - HGNC]
- ESX1:ESX homeobox 1 [Gene - OMIM - HGNC]
- ELK1:ETS transcription factor ELK1 [Gene - OMIM - HGNC]
- FANCB:FA complementation group B [Gene - OMIM - HGNC]
- FAM3A:FAM3 metabolism regulating signaling molecule A [Gene - OMIM - HGNC]
- FRMPD3:FERM and PDZ domain containing 3 [Gene - OMIM - HGNC]
- FRMPD4:FERM and PDZ domain containing 4 [Gene - OMIM - HGNC]
- FRMD7:FERM domain containing 7 [Gene - OMIM - HGNC]
- FMR1-AS1:FMR1 antisense RNA 1 [Gene - OMIM - HGNC]
- FMR1NB:FMR1 neighbor [Gene - HGNC]
- FTX:FTX transcript, XIST regulator [Gene - OMIM - HGNC]
- FUNDC1:FUN14 domain containing 1 [Gene - OMIM - HGNC]
- FUNDC2:FUN14 domain containing 2 [Gene - OMIM - HGNC]
- FGD1:FYVE, RhoGEF and PH domain containing 1 [Gene - OMIM - HGNC]
- FTSJ1:FtsJ RNA 2'-O-methyltransferase 1 [Gene - OMIM - HGNC]
- GAGE12B:G antigen 12B [Gene - HGNC]
- GAGE12C:G antigen 12C [Gene - OMIM - HGNC]
- GAGE12D:G antigen 12D [Gene - OMIM - HGNC]
- GAGE12E:G antigen 12E [Gene - OMIM - HGNC]
- GAGE12F:G antigen 12F [Gene - OMIM - HGNC]
- GAGE12G:G antigen 12G [Gene - OMIM - HGNC]
- GAGE12H:G antigen 12H [Gene - OMIM - HGNC]
- GAGE12I:G antigen 12I [Gene - OMIM - HGNC]
- GAGE12J:G antigen 12J [Gene - OMIM - HGNC]
- GAGE13:G antigen 13 [Gene - OMIM - HGNC]
- GAGE1:G antigen 1 [Gene - OMIM - HGNC]
- GAGE2A:G antigen 2A [Gene - OMIM - HGNC]
- GAGE2B:G antigen 2B [Gene - OMIM - HGNC]
- GAGE2C:G antigen 2C [Gene - OMIM - HGNC]
- GAGE2D:G antigen 2D [Gene - OMIM - HGNC]
- GAGE2E:G antigen 2E [Gene - OMIM - HGNC]
- GAGE8:G antigen 8 [Gene - OMIM - HGNC]
- GNL3L:G protein nucleolar 3 like [Gene - OMIM - HGNC]
- GPR101:G protein-coupled receptor 101 [Gene - OMIM - HGNC]
- GPR119:G protein-coupled receptor 119 [Gene - OMIM - HGNC]
- GPR143:G protein-coupled receptor 143 [Gene - OMIM - HGNC]
- GPR173:G protein-coupled receptor 173 [Gene - OMIM - HGNC]
- GPR174:G protein-coupled receptor 174 [Gene - OMIM - HGNC]
- GPR34:G protein-coupled receptor 34 [Gene - OMIM - HGNC]
- GPR50:G protein-coupled receptor 50 [Gene - OMIM - HGNC]
- GPR82:G protein-coupled receptor 82 [Gene - OMIM - HGNC]
- GPRASP1:G protein-coupled receptor associated sorting protein 1 [Gene - OMIM - HGNC]
- GPRASP2:G protein-coupled receptor associated sorting protein 2 [Gene - OMIM - HGNC]
- GPRASP3:G protein-coupled receptor associated sorting protein family member 3 [Gene - OMIM - HGNC]
- GPKOW:G-patch domain and KOW motifs [Gene - OMIM - HGNC]
- GSPT2:G1 to S phase transition 2 [Gene - OMIM - HGNC]
- GATA1:GATA binding protein 1 [Gene - OMIM - HGNC]
- GDI1:GDP dissociation inhibitor 1 [Gene - OMIM - HGNC]
- GPR50-AS1:GPR50 antisense RNA 1 [Gene - HGNC]
- GAB3:GRB2 associated binding protein 3 [Gene - OMIM - HGNC]
- GRIPAP1:GRIP1 associated protein 1 [Gene - OMIM - HGNC]
- H2AB1:H2A.B variant histone 1 [Gene - OMIM - HGNC]
- H2AB2:H2A.B variant histone 2 [Gene - OMIM - HGNC]
- H2AB3:H2A.B variant histone 3 [Gene - OMIM - HGNC]
- H2AP:H2A.P histone [Gene - HGNC]
- H2BW1:H2B.W histone 1 [Gene - OMIM - HGNC]
- H2BW2:H2B.W histone 2 [Gene - HGNC]
- HAUS7:HAUS augmin like complex subunit 7 [Gene - OMIM - HGNC]
- HUWE1:HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
- HTATSF1:HIV-1 Tat specific factor 1 [Gene - OMIM - HGNC]
- IQSEC2:IQ motif and Sec7 domain ArfGEF 2 [Gene - OMIM - HGNC]
- JPX:JPX transcript, XIST activator [Gene - OMIM - HGNC]
- KIAA1210:KIAA1210 [Gene - OMIM - HGNC]
- KLF8:KLF transcription factor 8 [Gene - OMIM - HGNC]
- KRBOX4:KRAB box domain containing 4 [Gene - OMIM - HGNC]
- LAGE3:L antigen family member 3 [Gene - OMIM - HGNC]
- L1CAM:L1 cell adhesion molecule [Gene - OMIM - HGNC]
- LAS1L:LAS1 like ribosome biogenesis factor [Gene - OMIM - HGNC]
- LDOC1:LDOC1 regulator of NFKB signaling [Gene - OMIM - HGNC]
- LHFPL1:LHFPL tetraspan subfamily member 1 [Gene - OMIM - HGNC]
- LONRF3:LON peptidase N-terminal domain and ring finger 3 [Gene - HGNC]
- LANCL3:LanC like family member 3 [Gene - HGNC]
- MAGEA10:MAGE family member A10 [Gene - OMIM - HGNC]
- MAGEA11:MAGE family member A11 [Gene - OMIM - HGNC]
- MAGEA12:MAGE family member A12 [Gene - OMIM - HGNC]
- MAGEA1:MAGE family member A1 [Gene - OMIM - HGNC]
- MAGEA2:MAGE family member A2 [Gene - OMIM - HGNC]
- MAGEA2B:MAGE family member A2B [Gene - OMIM - HGNC]
- MAGEA3:MAGE family member A3 [Gene - OMIM - HGNC]
- MAGEA4:MAGE family member A4 [Gene - OMIM - HGNC]
- MAGEA6:MAGE family member A6 [Gene - OMIM - HGNC]
- MAGEA8:MAGE family member A8 [Gene - OMIM - HGNC]
- MAGEA9:MAGE family member A9 [Gene - OMIM - HGNC]
- MAGEA9B:MAGE family member A9B [Gene - OMIM - HGNC]
- MAGEB10:MAGE family member B10 [Gene - OMIM - HGNC]
- MAGEB16:MAGE family member B16 [Gene - OMIM - HGNC]
- MAGEB17:MAGE family member B17 [Gene - OMIM - HGNC]
- MAGEB18:MAGE family member B18 [Gene - OMIM - HGNC]
- MAGEB1:MAGE family member B1 [Gene - OMIM - HGNC]
- MAGEB2:MAGE family member B2 [Gene - OMIM - HGNC]
- MAGEB3:MAGE family member B3 [Gene - OMIM - HGNC]
- MAGEB4:MAGE family member B4 [Gene - OMIM - HGNC]
- MAGEB5:MAGE family member B5 [Gene - OMIM - HGNC]
- MAGEB6:MAGE family member B6 [Gene - OMIM - HGNC]
- MAGEC1:MAGE family member C1 [Gene - OMIM - HGNC]
- MAGEC2:MAGE family member C2 [Gene - OMIM - HGNC]
- MAGEC3:MAGE family member C3 [Gene - OMIM - HGNC]
- MAGED1:MAGE family member D1 [Gene - OMIM - HGNC]
- MAGED2:MAGE family member D2 [Gene - OMIM - HGNC]
- MAGED4:MAGE family member D4 [Gene - OMIM - HGNC]
- MAGED4B:MAGE family member D4B [Gene - OMIM - HGNC]
- MAGEE1:MAGE family member E1 [Gene - OMIM - HGNC]
- MAGEE2:MAGE family member E2 [Gene - OMIM - HGNC]
- MAGEH1:MAGE family member H1 [Gene - OMIM - HGNC]
- MAGIX:MAGI family member, X-linked [Gene - HGNC]
- MPP1:MAGUK p55 scaffold protein 1 [Gene - OMIM - HGNC]
- MAP7D2:MAP7 domain containing 2 [Gene - OMIM - HGNC]
- MAP7D3:MAP7 domain containing 3 [Gene - OMIM - HGNC]
- MCF2:MCF.2 cell line derived transforming sequence [Gene - OMIM - HGNC]
- MCTS1:MCTS1 re-initiation and release factor [Gene - OMIM - HGNC]
- MID1IP1:MID1 interacting protein 1 [Gene - OMIM - HGNC]
- MORC4:MORC family CW-type zinc finger 4 [Gene - OMIM - HGNC]
- MSL3:MSL complex subunit 3 [Gene - OMIM - HGNC]
- MTRNR2L10:MT-RNR2 like 10 [Gene - HGNC]
- NAA10:N-alpha-acetyltransferase 10, NatA catalytic subunit [Gene - OMIM - HGNC]
- NSDHL:NAD(P) dependent steroid dehydrogenase-like [Gene - OMIM - HGNC]
- NDUFA1:NADH:ubiquinone oxidoreductase subunit A1 [Gene - OMIM - HGNC]
- NDUFB11:NADH:ubiquinone oxidoreductase subunit B11 [Gene - OMIM - HGNC]
- NOX1:NADPH oxidase 1 [Gene - OMIM - HGNC]
- NALF2:NALCN channel auxiliary factor 2 [Gene - HGNC]
- NKAP:NFKB activating protein [Gene - OMIM - HGNC]
- NKRF:NFKB repressing factor [Gene - OMIM - HGNC]
- NHS:NHS actin remodeling regulator [Gene - OMIM - HGNC]
- NHSL2:NHS like 2 [Gene - OMIM - HGNC]
- NRK:Nik related kinase [Gene - OMIM - HGNC]
- OGT:O-linked N-acetylglucosamine (GlcNAc) transferase [Gene - OMIM - HGNC]
- OCRL:OCRL inositol polyphosphate-5-phosphatase [Gene - OMIM - HGNC]
- OFD1:OFD1 centriole and centriolar satellite protein [Gene - OMIM - HGNC]
- OTUD5:OTU deubiquitinase 5 [Gene - OMIM - HGNC]
- OTUD6A:OTU deubiquitinase 6A [Gene - OMIM - HGNC]
- P2RY10:P2Y receptor family member 10 [Gene - OMIM - HGNC]
- PABIR2:PABIR family member 2 [Gene - HGNC]
- PABIR3:PABIR family member 3 [Gene - HGNC]
- PAGE1:PAGE family member 1 [Gene - OMIM - HGNC]
- PAGE2:PAGE family member 2 [Gene - OMIM - HGNC]
- PAGE2B:PAGE family member 2B [Gene - HGNC]
- PAGE3:PAGE family member 3 [Gene - OMIM - HGNC]
- PAGE4:PAGE family member 4 [Gene - OMIM - HGNC]
- PAGE5:PAGE family member 5 [Gene - OMIM - HGNC]
- PASD1:PAS domain containing repressor 1 [Gene - OMIM - HGNC]
- PDZD11:PDZ domain containing 11 [Gene - OMIM - HGNC]
- PDZD4:PDZ domain containing 4 [Gene - OMIM - HGNC]
- PHF6:PHD finger protein 6 [Gene - OMIM - HGNC]
- PHF8:PHD finger protein 8 [Gene - OMIM - HGNC]
- PNMA3:PNMA family member 3 [Gene - OMIM - HGNC]
- PNMA5:PNMA family member 5 [Gene - OMIM - HGNC]
- PNMA6A:PNMA family member 6A [Gene - OMIM - HGNC]
- PNMA6E:PNMA family member 6E [Gene - HGNC]
- POF1B:POF1B actin binding protein [Gene - OMIM - HGNC]
- POU3F4:POU class 3 homeobox 4 [Gene - OMIM - HGNC]
- PRAF2:PRA1 domain family member 2 [Gene - OMIM - HGNC]
- PWWP3B:PWWP domain containing 3B [Gene - HGNC]
- PIM2:Pim-2 proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
- RAB33A:RAB33A, member RAS oncogene family [Gene - OMIM - HGNC]
- RAB39B:RAB39B, member RAS oncogene family [Gene - OMIM - HGNC]
- RAB40AL:RAB40A like [Gene - OMIM - HGNC]
- RAB40A:RAB40A, member RAS oncogene family [Gene - OMIM - HGNC]
- RAB41:RAB41, member RAS oncogene family [Gene - HGNC]
- RAB9A:RAB9A, member RAS oncogene family [Gene - OMIM - HGNC]
- RAB9B:RAB9B, member RAS oncogene family [Gene - OMIM - HGNC]
- REPS2:RALBP1 associated Eps domain containing 2 [Gene - OMIM - HGNC]
- RAP2C:RAP2C, member of RAS oncogene family [Gene - OMIM - HGNC]
- RBBP7:RB binding protein 7, chromatin remodeling factor [Gene - OMIM - HGNC]
- RBMXL3:RBMX like 3 [Gene - HGNC]
- RIBC1:RIB43A domain with coiled-coils 1 [Gene - HGNC]
- RBM10:RNA binding motif protein 10 [Gene - OMIM - HGNC]
- RBM3:RNA binding motif protein 3 [Gene - OMIM - HGNC]
- RBM41:RNA binding motif protein 41 [Gene - HGNC]
- RBMX2:RNA binding motif protein X-linked 2 [Gene - HGNC]
- RBMX:RNA binding motif protein X-linked [Gene - OMIM - HGNC]
- RP2:RP2 activator of ARL3 GTPase [Gene - OMIM - HGNC]
- RADX:RPA1 related single stranded DNA binding protein, X-linked [Gene - HGNC]
- RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
- ARHGEF6:Rac/Cdc42 guanine nucleotide exchange factor 6 [Gene - OMIM - HGNC]
- RRAGB:Ras related GTP binding B [Gene - OMIM - HGNC]
- ARHGAP36:Rho GTPase activating protein 36 [Gene - OMIM - HGNC]
- ARHGAP4:Rho GTPase activating protein 4 [Gene - OMIM - HGNC]
- ARHGAP6:Rho GTPase activating protein 6 [Gene - OMIM - HGNC]
- RHOXF1:Rhox homeobox family member 1 [Gene - OMIM - HGNC]
- RHOXF2:Rhox homeobox family member 2 [Gene - OMIM - HGNC]
- RHOXF2B:Rhox homeobox family member 2B [Gene - HGNC]
- S100G:S100 calcium binding protein G [Gene - OMIM - HGNC]
- SASH3:SAM and SH3 domain containing 3 [Gene - OMIM - HGNC]
- SH2D1A:SH2 domain containing 1A [Gene - OMIM - HGNC]
- SH3BGRL:SH3 domain binding glutamate rich protein like [Gene - OMIM - HGNC]
- SH3KBP1:SH3 domain containing kinase binding protein 1 [Gene - OMIM - HGNC]
- SLITRK2:SLIT and NTRK like family member 2 [Gene - OMIM - HGNC]
- SLITRK4:SLIT and NTRK like family member 4 [Gene - OMIM - HGNC]
- SPANXA2:SPANX family member A2 [Gene - OMIM - HGNC]
- SPANXB1:SPANX family member B1 [Gene - OMIM - HGNC]
- SPANXC:SPANX family member C [Gene - OMIM - HGNC]
- SPANXD:SPANX family member D [Gene - OMIM - HGNC]
- SPANXN1:SPANX family member N1 [Gene - OMIM - HGNC]
- SPANXN2:SPANX family member N2 [Gene - OMIM - HGNC]
- SPANXN3:SPANX family member N3 [Gene - OMIM - HGNC]
- SPANXN4:SPANX family member N4 [Gene - OMIM - HGNC]
- SPANXN5:SPANX family member N5 [Gene - OMIM - HGNC]
- SRPK3:SRSF protein kinase 3 [Gene - OMIM - HGNC]
- SOX3:SRY-box transcription factor 3 [Gene - OMIM - HGNC]
- SSX1:SSX family member 1 [Gene - OMIM - HGNC]
- SSX2:SSX family member 2 [Gene - OMIM - HGNC]
- SSX2B:SSX family member 2B [Gene - HGNC]
- SSX3:SSX family member 3 [Gene - OMIM - HGNC]
- SSX4:SSX family member 4 [Gene - OMIM - HGNC]
- SSX4B:SSX family member 4B [Gene - HGNC]
- SSX5:SSX family member 5 [Gene - OMIM - HGNC]
- SSX7:SSX family member 7 [Gene - OMIM - HGNC]
- STAG2:STAG2 cohesin complex component [Gene - OMIM - HGNC]
- STEEP1:STING1 ER exit protein 1 [Gene - OMIM - HGNC]
- SUPT20HL1:SUPT20H like 1 [Gene - HGNC]
- SUPT20HL2:SUPT20H like 2 [Gene - HGNC]
- SUV39H1:SUV39H1 histone lysine methyltransferase [Gene - OMIM - HGNC]
- SMARCA1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 [Gene - OMIM - HGNC]
- SCML1:Scm polycomb group protein like 1 [Gene - OMIM - HGNC]
- SCML2:Scm polycomb group protein like 2 [Gene - OMIM - HGNC]
- STARD8:StAR related lipid transfer domain containing 8 [Gene - OMIM - HGNC]
- TBX22:T-box transcription factor 22 [Gene - OMIM - HGNC]
- TAF1:TATA-box binding protein associated factor 1 [Gene - OMIM - HGNC]
- TAF7L:TATA-box binding protein associated factor 7 like [Gene - OMIM - HGNC]
- TAF9B:TATA-box binding protein associated factor 9b [Gene - OMIM - HGNC]
- TBC1D25:TBC1 domain family member 25 [Gene - OMIM - HGNC]
- TBC1D8B:TBC1 domain family member 8B [Gene - OMIM - HGNC]
- TAB3:TGF-beta activated kinase 1 (MAP3K7) binding protein 3 [Gene - OMIM - HGNC]
- TGIF2LX:TGFB induced factor homeobox 2 like X-linked [Gene - OMIM - HGNC]
- THOC2:THO complex subunit 2 [Gene - OMIM - HGNC]
- TIMP1:TIMP metallopeptidase inhibitor 1 [Gene - OMIM - HGNC]
- TASL:TLR adaptor interacting with endolysosomal SLC15A4 [Gene - OMIM - HGNC]
- TRPC5OS:TRPC5 opposite strand [Gene - HGNC]
- TSC22D3:TSC22 domain family member 3 [Gene - OMIM - HGNC]
- TSIX:TSIX transcript, XIST antisense RNA [Gene - OMIM - HGNC]
- TSPYL2:TSPY like 2 [Gene - OMIM - HGNC]
- TSR2:TSR2 ribosome maturation factor [Gene - OMIM - HGNC]
- UPF3B:UPF3B regulator of nonsense mediated mRNA decay [Gene - OMIM - HGNC]
- UTP14A:UTP14A small subunit processome component [Gene - OMIM - HGNC]
- VSIG1:V-set and immunoglobulin domain containing 1 [Gene - OMIM - HGNC]
- VSIG4:V-set and immunoglobulin domain containing 4 [Gene - OMIM - HGNC]
- VCF2:VCP nuclear cofactor family member 2 [Gene - HGNC]
- VBP1:VHL binding protein 1 [Gene - OMIM - HGNC]
- WASIR1:WASH and IL9R antisense RNA 1 [Gene - HGNC]
- WAS:WASP actin nucleation promoting factor [Gene - OMIM - HGNC]
- WDR13:WD repeat domain 13 [Gene - OMIM - HGNC]
- WDR44:WD repeat domain 44 [Gene - OMIM - HGNC]
- WDR45:WD repeat domain 45 [Gene - OMIM - HGNC]
- WNK3:WNK lysine deficient protein kinase 3 [Gene - OMIM - HGNC]
- WWC3:WWC family member 3 [Gene - OMIM - HGNC]
- XAGE1A:X antigen family member 1A [Gene - OMIM - HGNC]
- XAGE1B:X antigen family member 1B [Gene - OMIM - HGNC]
- XAGE2:X antigen family member 2 [Gene - OMIM - HGNC]
- XAGE3:X antigen family member 3 [Gene - OMIM - HGNC]
- XAGE5:X antigen family member 5 [Gene - OMIM - HGNC]
- XIST:X inactive specific transcript [Gene - OMIM - HGNC]
- XK:X-linked Kx blood group antigen, Kell and VPS13A binding protein [Gene - OMIM - HGNC]
- XIAP:X-linked inhibitor of apoptosis [Gene - OMIM - HGNC]
- XPNPEP2:X-prolyl aminopeptidase 2 [Gene - OMIM - HGNC]
- XKRX:XK related X-linked [Gene - OMIM - HGNC]
- XG:Xg glycoprotein (Xg blood group) [Gene - OMIM - HGNC]
- YY2:YY2 transcription factor [Gene - OMIM - HGNC]
- YIPF6:Yip1 domain family member 6 [Gene - OMIM - HGNC]
- ZFP92:ZFP92 zinc finger protein [Gene - HGNC]
- ZIC3:Zic family member 3 [Gene - OMIM - HGNC]
- ACTRT1:actin related protein T1 [Gene - OMIM - HGNC]
- ACSL4:acyl-CoA synthetase long chain family member 4 [Gene - OMIM - HGNC]
- ACOT9:acyl-CoA thioesterase 9 [Gene - OMIM - HGNC]
- AWAT1:acyl-CoA wax alcohol acyltransferase 1 [Gene - OMIM - HGNC]
- AWAT2:acyl-CoA wax alcohol acyltransferase 2 [Gene - OMIM - HGNC]
- AP1S2:adaptor related protein complex 1 subunit sigma 2 [Gene - OMIM - HGNC]
- ADGRG2:adhesion G protein-coupled receptor G2 [Gene - OMIM - HGNC]
- ADGRG4:adhesion G protein-coupled receptor G4 [Gene - OMIM - HGNC]
- AMELX:amelogenin X-linked [Gene - OMIM - HGNC]
- AR:androgen receptor [Gene - OMIM - HGNC]
- AMOT:angiomotin [Gene - OMIM - HGNC]
- AGTR2:angiotensin II receptor type 2 [Gene - OMIM - HGNC]
- ACE2:angiotensin converting enzyme 2 [Gene - OMIM - HGNC]
- ASB11:ankyrin repeat and SOCS box containing 11 [Gene - OMIM - HGNC]
- ASB12:ankyrin repeat and SOCS box containing 12 [Gene - OMIM - HGNC]
- ASB9:ankyrin repeat and SOCS box containing 9 [Gene - OMIM - HGNC]
- ANOS1:anosmin 1 [Gene - OMIM - HGNC]
- APLN:apelin [Gene - OMIM - HGNC]
- APOOL:apolipoprotein O like [Gene - OMIM - HGNC]
- APOO:apolipoprotein O [Gene - OMIM - HGNC]
- AIFM1:apoptosis inducing factor mitochondria associated 1 [Gene - OMIM - HGNC]
- APEX2:apurinic/apyrimidinic endodeoxyribonuclease 2 [Gene - OMIM - HGNC]
- AVPR2:arginine vasopressin receptor 2 [Gene - OMIM - HGNC]
- ARX:aristaless related homeobox [Gene - OMIM - HGNC]
- ARMCX1:armadillo repeat containing X-linked 1 [Gene - OMIM - HGNC]
- ARMCX2:armadillo repeat containing X-linked 2 [Gene - OMIM - HGNC]
- ARMCX3:armadillo repeat containing X-linked 3 [Gene - OMIM - HGNC]
- ARMCX4:armadillo repeat containing X-linked 4 [Gene - OMIM - HGNC]
- ARMCX5:armadillo repeat containing X-linked 5 [Gene - OMIM - HGNC]
- ARMCX6:armadillo repeat containing X-linked 6 [Gene - OMIM - HGNC]
- ARR3:arrestin 3 [Gene - OMIM - HGNC]
- ARSD:arylsulfatase D [Gene - OMIM - HGNC]
- ARSF:arylsulfatase F [Gene - OMIM - HGNC]
- ARSL:arylsulfatase L [Gene - OMIM - HGNC]
- ARSH:arylsulfatase family member H [Gene - OMIM - HGNC]
- ATXN3L:ataxin 3 like [Gene - OMIM - HGNC]
- ATG4A:autophagy related 4A cysteine peptidase [Gene - OMIM - HGNC]
- BGN:biglycan [Gene - OMIM - HGNC]
- BRS3:bombesin receptor subtype 3 [Gene - OMIM - HGNC]
- BMP15:bone morphogenetic protein 15 [Gene - OMIM - HGNC]
- BEX1:brain expressed X-linked 1 [Gene - OMIM - HGNC]
- BEX2:brain expressed X-linked 2 [Gene - OMIM - HGNC]
- BEX3:brain expressed X-linked 3 [Gene - OMIM - HGNC]
- BEX4:brain expressed X-linked 4 [Gene - OMIM - HGNC]
- BEX5:brain expressed X-linked 5 [Gene - OMIM - HGNC]
- BRWD3:bromodomain and WD repeat domain containing 3 [Gene - OMIM - HGNC]
- CACNA1F:calcium voltage-gated channel subunit alpha1 F [Gene - OMIM - HGNC]
- CASK:calcium/calmodulin dependent serine protein kinase [Gene - OMIM - HGNC]
- CAPN6:calpain 6 [Gene - OMIM - HGNC]
- CTAG1A:cancer/testis antigen 1A [Gene - OMIM - HGNC]
- CTAG1B:cancer/testis antigen 1B [Gene - OMIM - HGNC]
- CTAG2:cancer/testis antigen 2 [Gene - OMIM - HGNC]
- CT55:cancer/testis antigen 55 [Gene - OMIM - HGNC]
- CT83:cancer/testis antigen 83 [Gene - OMIM - HGNC]
- CT45A1:cancer/testis antigen family 45 member A1 [Gene - OMIM - HGNC]
- CT45A2:cancer/testis antigen family 45 member A2 [Gene - OMIM - HGNC]
- CT45A3:cancer/testis antigen family 45 member A3 [Gene - OMIM - HGNC]
- CT45A5:cancer/testis antigen family 45 member A5 [Gene - OMIM - HGNC]
- CT45A6:cancer/testis antigen family 45 member A6 [Gene - OMIM - HGNC]
- CT47A10:cancer/testis antigen family 47 member A10 [Gene - OMIM - HGNC]
- CT47A11:cancer/testis antigen family 47 member A11 [Gene - OMIM - HGNC]
- CT47A12:cancer/testis antigen family 47 member A12 [Gene - HGNC]
- CT47A1:cancer/testis antigen family 47 member A1 [Gene - OMIM - HGNC]
- CT47A2:cancer/testis antigen family 47 member A2 [Gene - OMIM - HGNC]
- CT47A3:cancer/testis antigen family 47 member A3 [Gene - OMIM - HGNC]
- CT47A4:cancer/testis antigen family 47 member A4 [Gene - OMIM - HGNC]
- CT47A5:cancer/testis antigen family 47 member A5 [Gene - OMIM - HGNC]
- CT47A6:cancer/testis antigen family 47 member A6 [Gene - OMIM - HGNC]
- CT47A7:cancer/testis antigen family 47 member A7 [Gene - OMIM - HGNC]
- CT47A8:cancer/testis antigen family 47 member A8 [Gene - OMIM - HGNC]
- CT47A9:cancer/testis antigen family 47 member A9 [Gene - OMIM - HGNC]
- CT47B1:cancer/testis antigen family 47 member B1 [Gene - OMIM - HGNC]
- CHST7:carbohydrate sulfotransferase 7 [Gene - OMIM - HGNC]
- CA5B:carbonic anhydrase 5B [Gene - OMIM - HGNC]
- CDX4:caudal type homeobox 4 [Gene - OMIM - HGNC]
- CETN2:centrin 2 [Gene - OMIM - HGNC]
- CENPI:centromere protein I [Gene - OMIM - HGNC]
- CDR1:cerebellar degeneration related 1 [Gene - OMIM - HGNC]
- CLIC2:chloride intracellular channel 2 [Gene - OMIM - HGNC]
- CLCN4:chloride voltage-gated channel 4 [Gene - OMIM - HGNC]
- CLCN5:chloride voltage-gated channel 5 [Gene - OMIM - HGNC]
- CSAG1:chondrosarcoma associated gene 1 [Gene - OMIM - HGNC]
- CHRDL1:chordin like 1 [Gene - OMIM - HGNC]
- CXorf38:chromosome X open reading frame 38 [Gene - OMIM - HGNC]
- CXorf49:chromosome X open reading frame 49 [Gene - HGNC]
- CXorf49B:chromosome X open reading frame 49B [Gene - HGNC]
- CXorf51A:chromosome X open reading frame 51A [Gene - HGNC]
- CXorf51B:chromosome X open reading frame 51B [Gene - HGNC]
- CXorf58:chromosome X open reading frame 58 [Gene - HGNC]
- CXorf65:chromosome X open reading frame 65 [Gene - HGNC]
- CXorf66:chromosome X open reading frame 66 [Gene - HGNC]
- CFAP47:cilia and flagella associated protein 47 [Gene - OMIM - HGNC]
- CLDN2:claudin 2 [Gene - OMIM - HGNC]
- CSTF2:cleavage stimulation factor subunit 2 [Gene - OMIM - HGNC]
- F9:coagulation factor IX [Gene - OMIM - HGNC]
- F8A1:coagulation factor VIII associated 1 [Gene - OMIM - HGNC]
- F8A2:coagulation factor VIII associated 2 [Gene - HGNC]
- F8A3:coagulation factor VIII associated 3 [Gene - HGNC]
- F8:coagulation factor VIII [Gene - OMIM - HGNC]
- CCDC120:coiled-coil domain containing 120 [Gene - OMIM - HGNC]
- CCDC160:coiled-coil domain containing 160 [Gene - HGNC]
- CCDC22:coiled-coil domain containing 22 [Gene - OMIM - HGNC]
- COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]
- COL4A6:collagen type IV alpha 6 chain [Gene - OMIM - HGNC]
- CLTRN:collectrin, amino acid transport regulator [Gene - OMIM - HGNC]
- CFP:complement factor properdin [Gene - OMIM - HGNC]
- CNKSR2:connector enhancer of kinase suppressor of Ras 2 [Gene - OMIM - HGNC]
- CUL4B:cullin 4B [Gene - OMIM - HGNC]
- CNGA2:cyclic nucleotide gated channel subunit alpha 2 [Gene - OMIM - HGNC]
- CCNB3:cyclin B3 [Gene - OMIM - HGNC]
- CCNQ:cyclin Q [Gene - OMIM - HGNC]
- CDK16:cyclin dependent kinase 16 [Gene - OMIM - HGNC]
- CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
- CYLC1:cylicin 1 [Gene - OMIM - HGNC]
- CHIC1:cysteine rich hydrophobic domain 1 [Gene - OMIM - HGNC]
- CYSLTR1:cysteinyl leukotriene receptor 1 [Gene - OMIM - HGNC]
- CYBB:cytochrome b-245 beta chain [Gene - OMIM - HGNC]
- COX7B:cytochrome c oxidase subunit 7B [Gene - OMIM - HGNC]
- DACH2:dachshund family transcription factor 2 [Gene - OMIM - HGNC]
- DOCK11:dedicator of cytokinesis 11 [Gene - OMIM - HGNC]
- DNASE1L1:deoxyribonuclease 1 like 1 [Gene - OMIM - HGNC]
- DGAT2L6:diacylglycerol O-acyltransferase 2 like 6 [Gene - OMIM - HGNC]
- DGKK:diacylglycerol kinase kappa [Gene - OMIM - HGNC]
- DIAPH2:diaphanous related formin 2 [Gene - OMIM - HGNC]
- DLG3:discs large MAGUK scaffold protein 3 [Gene - OMIM - HGNC]
- DIPK2B:divergent protein kinase domain 2B [Gene - OMIM - HGNC]
- DCX:doublecortin [Gene - OMIM - HGNC]
- DUSP21:dual specificity phosphatase 21 [Gene - OMIM - HGNC]
- DUSP9:dual specificity phosphatase 9 [Gene - OMIM - HGNC]
- DNAAF6:dynein axonemal assembly factor 6 [Gene - OMIM - HGNC]
- DYNLT3:dynein light chain Tctex-type 3 [Gene - OMIM - HGNC]
- DKC1:dyskerin pseudouridine synthase 1 [Gene - OMIM - HGNC]
- DRP2:dystrophin related protein 2 [Gene - OMIM - HGNC]
- DMD:dystrophin [Gene - OMIM - HGNC]
- ENOX2:ecto-NOX disulfide-thiol exchanger 2 [Gene - OMIM - HGNC]
- EDA2R:ectodysplasin A2 receptor [Gene - OMIM - HGNC]
- EDA:ectodysplasin A [Gene - OMIM - HGNC]
- EMD:emerin [Gene - OMIM - HGNC]
- EOLA1:endothelium and lymphocyte associated ASCH domain 1 [Gene - OMIM - HGNC]
- EOLA2:endothelium and lymphocyte associated ASCH domain 2 [Gene - HGNC]
- EFNB1:ephrin B1 [Gene - OMIM - HGNC]
- EIF1AX:eukaryotic translation initiation factor 1A X-linked [Gene - OMIM - HGNC]
- EIF2S3:eukaryotic translation initiation factor 2 subunit gamma [Gene - OMIM - HGNC]
- FAM120C:family with sequence similarity 120 member C [Gene - OMIM - HGNC]
- FAM133A:family with sequence similarity 133 member A [Gene - HGNC]
- FAM156A:family with sequence similarity 156 member A [Gene - HGNC]
- FAM156B:family with sequence similarity 156 member B [Gene - HGNC]
- FAM199X:family with sequence similarity 199, X-linked [Gene - HGNC]
- FAM47A:family with sequence similarity 47 member A [Gene - HGNC]
- FAM47B:family with sequence similarity 47 member B [Gene - HGNC]
- FAM47C:family with sequence similarity 47 member C [Gene - OMIM - HGNC]
- FAM50A:family with sequence similarity 50 member A [Gene - OMIM - HGNC]
- FAM9A:family with sequence similarity 9 member A [Gene - OMIM - HGNC]
- FAM9B:family with sequence similarity 9 member B [Gene - OMIM - HGNC]
- FAM9C:family with sequence similarity 9 member C [Gene - OMIM - HGNC]
- FAAH2:fatty acid amide hydrolase 2 [Gene - OMIM - HGNC]
- FTHL17:ferritin heavy chain like 17 [Gene - OMIM - HGNC]
- FATE1:fetal and adult testis expressed 1 [Gene - OMIM - HGNC]
- FGF13:fibroblast growth factor 13 [Gene - OMIM - HGNC]
- FGF16:fibroblast growth factor 16 [Gene - OMIM - HGNC]
- FLNA:filamin A [Gene - OMIM - HGNC]
- FOXO4:forkhead box O4 [Gene - OMIM - HGNC]
- FOXP3:forkhead box P3 [Gene - OMIM - HGNC]
- FOXR2:forkhead box R2 [Gene - OMIM - HGNC]
- FHL1:four and a half LIM domains 1 [Gene - OMIM - HGNC]
- FMR1:fragile X messenger ribonucleoprotein 1 [Gene - OMIM - HGNC]
- GLA:galactosidase alpha [Gene - OMIM - HGNC]
- GABRA3:gamma-aminobutyric acid type A receptor subunit alpha3 [Gene - OMIM - HGNC]
- GABRE:gamma-aminobutyric acid type A receptor subunit epsilon [Gene - OMIM - HGNC]
- GABRQ:gamma-aminobutyric acid type A receptor subunit theta [Gene - OMIM - HGNC]
- GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]
- GRPR:gastrin releasing peptide receptor [Gene - OMIM - HGNC]
- GEMIN8:gem nuclear organelle associated protein 8 [Gene - OMIM - HGNC]
- GCNA:germ cell nuclear acidic peptidase [Gene - OMIM - HGNC]
- G6PD:glucose-6-phosphate dehydrogenase [Gene - OMIM - HGNC]
- GLUD2:glutamate dehydrogenase 2 [Gene - OMIM - HGNC]
- GRIA3:glutamate ionotropic receptor AMPA type subunit 3 [Gene - OMIM - HGNC]
- GK:glycerol kinase [Gene - OMIM - HGNC]
- GDPD2:glycerophosphodiester phosphodiesterase domain containing 2 [Gene - OMIM - HGNC]
- GLRA2:glycine receptor alpha 2 [Gene - OMIM - HGNC]
- GYG2:glycogenin 2 [Gene - OMIM - HGNC]
- GPM6B:glycoprotein M6B [Gene - OMIM - HGNC]
- GLOD5:glyoxalase domain containing 5 [Gene - OMIM - HGNC]
- GPC3:glypican 3 [Gene - OMIM - HGNC]
- GPC4:glypican 4 [Gene - OMIM - HGNC]
- GUCY2F:guanylate cyclase 2F, retinal [Gene - OMIM - HGNC]
- HSFX1:heat shock transcription factor family, X-linked 1 [Gene - HGNC]
- HSFX2:heat shock transcription factor family, X-linked 2 [Gene - HGNC]
- HS6ST2:heparan sulfate 6-O-sulfotransferase 2 [Gene - OMIM - HGNC]
- HEPH:hephaestin [Gene - OMIM - HGNC]
- HNRNPH2:heterogeneous nuclear ribonucleoprotein H2 [Gene - OMIM - HGNC]
- HMGB3:high mobility group box 3 [Gene - OMIM - HGNC]
- HMGN5:high mobility group nucleosome binding domain 5 [Gene - OMIM - HGNC]
- HDX:highly divergent homeobox [Gene - OMIM - HGNC]
- HDAC6:histone deacetylase 6 [Gene - OMIM - HGNC]
- HDAC8:histone deacetylase 8 [Gene - OMIM - HGNC]
- HCCS:holocytochrome c synthase [Gene - OMIM - HGNC]
- HCFC1:host cell factor C1 [Gene - OMIM - HGNC]
- HSD17B10:hydroxysteroid 17-beta dehydrogenase 10 [Gene - OMIM - HGNC]
- HPRT1:hypoxanthine phosphoribosyltransferase 1 [Gene - OMIM - HGNC]
- IDS:iduronate 2-sulfatase [Gene - OMIM - HGNC]
- IGBP1:immunoglobulin binding protein 1 [Gene - OMIM - HGNC]
- IGSF1:immunoglobulin superfamily member 1 [Gene - OMIM - HGNC]
- INE1:inactivation escape 1 [Gene - OMIM - HGNC]
- INE2:inactivation escape 2 [Gene - OMIM - HGNC]
- IKBKG:inhibitor of nuclear factor kappa B kinase regulatory subunit gamma [Gene - OMIM - HGNC]
- IRS4:insulin receptor substrate 4 [Gene - OMIM - HGNC]
- ITM2A:integral membrane protein 2A [Gene - OMIM - HGNC]
- INTS6L:integrator complex subunit 6 like [Gene - HGNC]
- ITGB1BP2:integrin subunit beta 1 binding protein 2 [Gene - OMIM - HGNC]
- ITIH6:inter-alpha-trypsin inhibitor heavy chain family member 6 [Gene - HGNC]
- IL1RAPL1:interleukin 1 receptor accessory protein like 1 [Gene - OMIM - HGNC]
- IL1RAPL2:interleukin 1 receptor accessory protein like 2 [Gene - OMIM - HGNC]
- IRAK1:interleukin 1 receptor associated kinase 1 [Gene - OMIM - HGNC]
- IL13RA1:interleukin 13 receptor subunit alpha 1 [Gene - OMIM - HGNC]
- IL13RA2:interleukin 13 receptor subunit alpha 2 [Gene - OMIM - HGNC]
- IL2RG:interleukin 2 receptor subunit gamma [Gene - OMIM - HGNC]
- IDH3G:isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma [Gene - OMIM - HGNC]
- JADE3:jade family PHD finger 3 [Gene - OMIM - HGNC]
- KLHL13:kelch like family member 13 [Gene - OMIM - HGNC]
- KLHL15:kelch like family member 15 [Gene - OMIM - HGNC]
- KLHL34:kelch like family member 34 [Gene - HGNC]
- KLHL4:kelch like family member 4 [Gene - OMIM - HGNC]
- KIF4A:kinesin family member 4A [Gene - OMIM - HGNC]
- LRCH2:leucine rich repeats and calponin homology domain containing 2 [Gene - HGNC]
- LUZP4:leucine zipper protein 4 [Gene - OMIM - HGNC]
- LINC01560:long intergenic non-protein coding RNA 1560 [Gene - HGNC]
- KDM5C:lysine demethylase 5C [Gene - OMIM - HGNC]
- KDM6A:lysine demethylase 6A [Gene - OMIM - HGNC]
- LPAR4:lysophosphatidic acid receptor 4 [Gene - OMIM - HGNC]
- LAMP2:lysosomal associated membrane protein 2 [Gene - OMIM - HGNC]
- MAGT1:magnesium transporter 1 [Gene - OMIM - HGNC]
- MAMLD1:mastermind like domain containing 1 [Gene - OMIM - HGNC]
- MXRA5:matrix remodeling associated 5 [Gene - OMIM - HGNC]
- MTCP1:mature T cell proliferation 1 [Gene - OMIM - HGNC]
- MED12:mediator complex subunit 12 [Gene - OMIM - HGNC]
- MED14:mediator complex subunit 14 [Gene - OMIM - HGNC]
- MBTPS2:membrane bound transcription factor peptidase, site 2 [Gene - OMIM - HGNC]
- MMGT1:membrane magnesium transporter 1 [Gene - OMIM - HGNC]
- MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]
- MIR105-1:microRNA 105-1 [Gene - OMIM - HGNC]
- MIR105-2:microRNA 105-2 [Gene - OMIM - HGNC]
- MIR106A:microRNA 106a [Gene - OMIM - HGNC]
- MIR19B2:microRNA 19b-2 [Gene - OMIM - HGNC]
- MIR221:microRNA 221 [Gene - OMIM - HGNC]
- MIR222:microRNA 222 [Gene - OMIM - HGNC]
- MIR223:microRNA 223 [Gene - OMIM - HGNC]
- MIR224:microRNA 224 [Gene - OMIM - HGNC]
- MIR424:microRNA 424 [Gene - OMIM - HGNC]
- MIR448:microRNA 448 [Gene - OMIM - HGNC]
- MIR502:microRNA 502 [Gene - OMIM - HGNC]
- MIR503:microRNA 503 [Gene - OMIM - HGNC]
- MIR506:microRNA 506 [Gene - OMIM - HGNC]
- MIR508:microRNA 508 [Gene - OMIM - HGNC]
- MIR509-1:microRNA 509-1 [Gene - OMIM - HGNC]
- MIR509-3:microRNA 509-3 [Gene - OMIM - HGNC]
- MIR510:microRNA 510 [Gene - OMIM - HGNC]
- MIR532:microRNA 532 [Gene - OMIM - HGNC]
- MIR98:microRNA 98 [Gene - OMIM - HGNC]
- MIRLET7F2:microRNA let-7f-2 [Gene - OMIM - HGNC]
- MID1:midline 1 [Gene - OMIM - HGNC]
- MID2:midline 2 [Gene - OMIM - HGNC]
- MPC1L:mitochondrial pyruvate carrier 1 like [Gene - OMIM - HGNC]
- MAP3K15:mitogen-activated protein kinase kinase kinase 15 [Gene - OMIM - HGNC]
- MSN:moesin [Gene - OMIM - HGNC]
- MAOA:monoamine oxidase A [Gene - OMIM - HGNC]
- MAOB:monoamine oxidase B [Gene - OMIM - HGNC]
- MORF4L2:mortality factor 4 like 2 [Gene - OMIM - HGNC]
- MOSPD1:motile sperm domain containing 1 [Gene - OMIM - HGNC]
- MOSPD2:motile sperm domain containing 2 [Gene - OMIM - HGNC]
- MBNL3:muscleblind like splicing regulator 3 [Gene - OMIM - HGNC]
- MTM1:myotubularin 1 [Gene - OMIM - HGNC]
- MTMR1:myotubularin related protein 1 [Gene - OMIM - HGNC]
- MTMR8:myotubularin related protein 8 [Gene - OMIM - HGNC]
- NEXMIF:neurite extension and migration factor [Gene - OMIM - HGNC]
- NLGN3:neuroligin 3 [Gene - OMIM - HGNC]
- NLGN4X:neuroligin 4 X-linked [Gene - OMIM - HGNC]
- NONO:non-POU domain containing octamer binding [Gene - OMIM - HGNC]
- NDP:norrin cystine knot growth factor NDP [Gene - OMIM - HGNC]
- NXF2:nuclear RNA export factor 2 [Gene - OMIM - HGNC]
- NXF2B:nuclear RNA export factor 2B [Gene - HGNC]
- NXF3:nuclear RNA export factor 3 [Gene - OMIM - HGNC]
- NXF5:nuclear RNA export factor 5 [Gene - OMIM - HGNC]
- NR0B1:nuclear receptor subfamily 0 group B member 1 [Gene - OMIM - HGNC]
- NXT2:nuclear transport factor 2 like export factor 2 [Gene - OMIM - HGNC]
- NUP62CL:nucleoporin 62 C-terminal like [Gene - HGNC]
- NAP1L2:nucleosome assembly protein 1 like 2 [Gene - OMIM - HGNC]
- NAP1L3:nucleosome assembly protein 1 like 3 [Gene - OMIM - HGNC]
- NUDT10:nudix hydrolase 10 [Gene - OMIM - HGNC]
- NUDT11:nudix hydrolase 11 [Gene - OMIM - HGNC]
- NYX:nyctalopin [Gene - OMIM - HGNC]
- OR13H1:olfactory receptor family 13 subfamily H member 1 [Gene - HGNC]
- OPHN1:oligophrenin 1 [Gene - OMIM - HGNC]
- OPN1LW:opsin 1, long wave sensitive [Gene - OMIM - HGNC]
- OPN1MW2:opsin 1, medium wave sensitive 2 [Gene - HGNC]
- OPN1MW:opsin 1, medium wave sensitive [Gene - OMIM - HGNC]
- OTC:ornithine transcarbamylase [Gene - OMIM - HGNC]
- PAK3:p21 (RAC1) activated kinase 3 [Gene - OMIM - HGNC]
- PNPLA4:patatin like phospholipase domain containing 4 [Gene - OMIM - HGNC]
- PTCHD1:patched domain containing 1 [Gene - OMIM - HGNC]
- PIN4:peptidylprolyl cis/trans isomerase, NIMA-interacting 4 [Gene - OMIM - HGNC]
- PRDX4:peroxiredoxin 4 [Gene - OMIM - HGNC]
- PCYT1B:phosphate cytidylyltransferase 1B, choline [Gene - OMIM - HGNC]
- PHEX:phosphate regulating endopeptidase X-linked [Gene - OMIM - HGNC]
- PIGA:phosphatidylinositol glycan anchor biosynthesis class A [Gene - OMIM - HGNC]
- PGK1:phosphoglycerate kinase 1 [Gene - OMIM - HGNC]
- PGAM4:phosphoglycerate mutase family member 4 [Gene - OMIM - HGNC]
- PRPS1:phosphoribosyl pyrophosphate synthetase 1 [Gene - OMIM - HGNC]
- PRPS2:phosphoribosyl pyrophosphate synthetase 2 [Gene - OMIM - HGNC]
- PHKA1:phosphorylase kinase regulatory subunit alpha 1 [Gene - OMIM - HGNC]
- PHKA2:phosphorylase kinase regulatory subunit alpha 2 [Gene - OMIM - HGNC]
- PIR:pirin [Gene - OMIM - HGNC]
- PLAC1:placenta enriched 1 [Gene - OMIM - HGNC]
- PLS3:plastin 3 [Gene - OMIM - HGNC]
- PLXNA3:plexin A3 [Gene - OMIM - HGNC]
- PLXNB3:plexin B3 [Gene - OMIM - HGNC]
- PABPC1L2A:poly(A) binding protein cytoplasmic 1 like 2A [Gene - HGNC]
- PABPC1L2B:poly(A) binding protein cytoplasmic 1 like 2B [Gene - HGNC]
- PABPC5:poly(A) binding protein cytoplasmic 5 [Gene - OMIM - HGNC]
- PQBP1:polyglutamine binding protein 1 [Gene - OMIM - HGNC]
- PBDC1:polysaccharide biosynthesis domain containing 1 [Gene - HGNC]
- PORCN:porcupine O-acyltransferase [Gene - OMIM - HGNC]
- KCND1:potassium voltage-gated channel subfamily D member 1 [Gene - OMIM - HGNC]
- KCNE5:potassium voltage-gated channel subfamily E regulatory subunit 5 [Gene - OMIM - HGNC]
- PJA1:praja ring finger ubiquitin ligase 1 [Gene - OMIM - HGNC]
- PNCK:pregnancy up-regulated nonubiquitous CaM kinase [Gene - OMIM - HGNC]
- PRICKLE3:prickle planar cell polarity protein 3 [Gene - OMIM - HGNC]
- PGRMC1:progesterone receptor membrane component 1 [Gene - OMIM - HGNC]
- PRR32:proline rich 32 [Gene - HGNC]
- PRRG1:proline rich and Gla domain 1 [Gene - OMIM - HGNC]
- PRRG3:proline rich and Gla domain 3 [Gene - OMIM - HGNC]
- PCSK1N:proprotein convertase subtilisin/kexin type 1 inhibitor [Gene - OMIM - HGNC]
- PSMD10:proteasome 26S subunit, non-ATPase 10 [Gene - OMIM - HGNC]
- PRKX:protein kinase cAMP-dependent X-linked catalytic subunit [Gene - OMIM - HGNC]
- PPP1R3F:protein phosphatase 1 regulatory subunit 3F [Gene - OMIM - HGNC]
- PPEF1:protein phosphatase with EF-hand domain 1 [Gene - OMIM - HGNC]
- PLP1:proteolipid protein 1 [Gene - OMIM - HGNC]
- PLP2:proteolipid protein 2 [Gene - OMIM - HGNC]
- PCDH11X:protocadherin 11 X-linked [Gene - OMIM - HGNC]
- PCDH19:protocadherin 19 [Gene - OMIM - HGNC]
- PUDP:pseudouridine 5'-phosphatase [Gene - OMIM - HGNC]
- P2RY4:pyrimidinergic receptor P2Y4 [Gene - OMIM - HGNC]
- PDHA1:pyruvate dehydrogenase E1 subunit alpha 1 [Gene - OMIM - HGNC]
- PDK3:pyruvate dehydrogenase kinase 3 [Gene - OMIM - HGNC]
- RGN:regucalcin [Gene - OMIM - HGNC]
- RENBP:renin binding protein [Gene - OMIM - HGNC]
- RPA4:replication protein A4 [Gene - OMIM - HGNC]
- RPGR:retinitis pigmentosa GTPase regulator [Gene - OMIM - HGNC]
- RAI2:retinoic acid induced 2 [Gene - OMIM - HGNC]
- RS1:retinoschisin 1 [Gene - OMIM - HGNC]
- RTL3:retrotransposon Gag like 3 [Gene - HGNC]
- RTL4:retrotransposon Gag like 4 [Gene - HGNC]
- RTL5:retrotransposon Gag like 5 [Gene - HGNC]
- RTL8A:retrotransposon Gag like 8A [Gene - HGNC]
- RTL8B:retrotransposon Gag like 8B [Gene - HGNC]
- RTL8C:retrotransposon Gag like 8C [Gene - OMIM - HGNC]
- RTL9:retrotransposon Gag like 9 [Gene - OMIM - HGNC]
- RPL10:ribosomal protein L10 [Gene - OMIM - HGNC]
- RPL36A:ribosomal protein L36a [Gene - OMIM - HGNC]
- RPL39:ribosomal protein L39 [Gene - OMIM - HGNC]
- RPS4X:ribosomal protein S4 X-linked [Gene - OMIM - HGNC]
- RPS6KA3:ribosomal protein S6 kinase A3 [Gene - OMIM - HGNC]
- RPS6KA6:ribosomal protein S6 kinase A6 [Gene - OMIM - HGNC]
- RNF113A:ring finger protein 113A [Gene - OMIM - HGNC]
- RNF128:ring finger protein 128 [Gene - OMIM - HGNC]
- RLIM:ring finger protein, LIM domain interacting [Gene - OMIM - HGNC]
- RIPPLY1:ripply transcriptional repressor 1 [Gene - OMIM - HGNC]
- SAGE1:sarcoma antigen 1 [Gene - OMIM - HGNC]
- SEPTIN6:septin 6 [Gene - OMIM - HGNC]
- STK26:serine/threonine kinase 26 [Gene - OMIM - HGNC]
- SERPINA7:serpin family A member 7 [Gene - OMIM - HGNC]
- SHROOM2:shroom family member 2 [Gene - OMIM - HGNC]
- SHROOM4:shroom family member 4 [Gene - OMIM - HGNC]
- SSR4:signal sequence receptor subunit 4 [Gene - OMIM - HGNC]
- SMIM10:small integral membrane protein 10 [Gene - HGNC]
- SMIM9:small integral membrane protein 9 [Gene - HGNC]
- SMPX:small muscle protein X-linked [Gene - OMIM - HGNC]
- SNORA11:small nucleolar RNA, H/ACA box 11 [Gene - OMIM - HGNC]
- SLC10A3:solute carrier family 10 member 3 [Gene - OMIM - HGNC]
- SLC16A2:solute carrier family 16 member 2 [Gene - OMIM - HGNC]
- SLC25A14:solute carrier family 25 member 14 [Gene - OMIM - HGNC]
- SLC25A43:solute carrier family 25 member 43 [Gene - OMIM - HGNC]
- SLC25A53:solute carrier family 25 member 53 [Gene - OMIM - HGNC]
- SLC25A5:solute carrier family 25 member 5 [Gene - OMIM - HGNC]
- SLC35A2:solute carrier family 35 member A2 [Gene - OMIM - HGNC]
- SLC38A5:solute carrier family 38 member 5 [Gene - OMIM - HGNC]
- SLC6A14:solute carrier family 6 member 14 [Gene - OMIM - HGNC]
- SLC6A8:solute carrier family 6 member 8 [Gene - OMIM - HGNC]
- SLC7A3:solute carrier family 7 member 3 [Gene - OMIM - HGNC]
- SLC9A6:solute carrier family 9 member A6 [Gene - OMIM - HGNC]
- SLC9A7:solute carrier family 9 member A7 [Gene - OMIM - HGNC]
- SNX12:sorting nexin 12 [Gene - OMIM - HGNC]
- SOWAHD:sosondowah ankyrin repeat domain family member D [Gene - HGNC]
- SPACA5:sperm acrosome associated 5 [Gene - OMIM - HGNC]
- SPACA5B:sperm acrosome associated 5B [Gene - HGNC]
- SPANXA1:sperm protein associated with the nucleus, X-linked, family member A1 [Gene - OMIM - HGNC]
- SATL1:spermidine/spermine N1-acetyl transferase like 1 [Gene - HGNC]
- SAT1:spermidine/spermine N1-acetyltransferase 1 [Gene - OMIM - HGNC]
- SMS:spermine synthase [Gene - OMIM - HGNC]
- SPIN2A:spindlin family member 2A [Gene - OMIM - HGNC]
- SPIN2B:spindlin family member 2B [Gene - OMIM - HGNC]
- SPIN3:spindlin family member 3 [Gene - HGNC]
- SPIN4:spindlin family member 4 [Gene - OMIM - HGNC]
- STS:steroid sulfatase [Gene - OMIM - HGNC]
- SMC1A:structural maintenance of chromosomes 1A [Gene - OMIM - HGNC]
- SRPX2:sushi repeat containing protein X-linked 2 [Gene - OMIM - HGNC]
- SRPX:sushi repeat containing protein X-linked [Gene - OMIM - HGNC]
- SYAP1:synapse associated protein 1 [Gene - HGNC]
- SYN1:synapsin I [Gene - OMIM - HGNC]
- SYP:synaptophysin [Gene - OMIM - HGNC]
- SYTL4:synaptotagmin like 4 [Gene - OMIM - HGNC]
- SYTL5:synaptotagmin like 5 [Gene - HGNC]
- TCP11X2:t-complex 11 family, X-linked 2 [Gene - HGNC]
- TRMT2B:tRNA methyltransferase 2 homolog B [Gene - HGNC]
- TAFAZZIN:tafazzin, phospholipid-lysophospholipid transacylase [Gene - OMIM - HGNC]
- TXLNG:taxilin gamma [Gene - OMIM - HGNC]
- TENM1:teneurin transmembrane protein 1 [Gene - OMIM - HGNC]
- TNMD:tenomodulin [Gene - OMIM - HGNC]
- TENT5D:terminal nucleotidyltransferase 5D [Gene - OMIM - HGNC]
- TEX11:testis expressed 11 [Gene - OMIM - HGNC]
- TEX13A:testis expressed 13A [Gene - OMIM - HGNC]
- TEX13B:testis expressed 13B [Gene - OMIM - HGNC]
- TEX28:testis expressed 28 [Gene - OMIM - HGNC]
- TSPAN6:tetraspanin 6 [Gene - OMIM - HGNC]
- TSPAN7:tetraspanin 7 [Gene - OMIM - HGNC]
- TREX2:three prime repair exonuclease 2 [Gene - OMIM - HGNC]
- TMSB15A:thymosin beta 15A [Gene - OMIM - HGNC]
- TMSB15B:thymosin beta 15B [Gene - OMIM - HGNC]
- TMSB4X:thymosin beta 4 X-linked [Gene - OMIM - HGNC]
- TLR7:toll like receptor 7 [Gene - OMIM - HGNC]
- TLR8:toll like receptor 8 [Gene - OMIM - HGNC]
- TRAPPC2:trafficking protein particle complex subunit 2 [Gene - OMIM - HGNC]
- TCEANC:transcription elongation factor A N-terminal and central domain containing [Gene - OMIM - HGNC]
- TCEAL1:transcription elongation factor A like 1 [Gene - OMIM - HGNC]
- TCEAL2:transcription elongation factor A like 2 [Gene - HGNC]
- TCEAL3:transcription elongation factor A like 3 [Gene - HGNC]
- TCEAL4:transcription elongation factor A like 4 [Gene - HGNC]
- TCEAL5:transcription elongation factor A like 5 [Gene - HGNC]
- TCEAL6:transcription elongation factor A like 6 [Gene - HGNC]
- TCEAL7:transcription elongation factor A like 7 [Gene - OMIM - HGNC]
- TCEAL8:transcription elongation factor A like 8 [Gene - HGNC]
- TCEAL9:transcription elongation factor A like 9 [Gene - HGNC]
- TFDP3:transcription factor Dp family member 3 [Gene - OMIM - HGNC]
- TFE3:transcription factor binding to IGHM enhancer 3 [Gene - OMIM - HGNC]
- TBL1X:transducin beta like 1 X-linked [Gene - OMIM - HGNC]
- TRPC5:transient receptor potential cation channel subfamily C member 5 [Gene - OMIM - HGNC]
- TKTL1:transketolase like 1 [Gene - OMIM - HGNC]
- TIMM17B:translocase of inner mitochondrial membrane 17B [Gene - OMIM - HGNC]
- TIMM8A:translocase of inner mitochondrial membrane 8A [Gene - OMIM - HGNC]
- TMEM164:transmembrane protein 164 [Gene - HGNC]
- TMEM185A:transmembrane protein 185A [Gene - OMIM - HGNC]
- TMEM187:transmembrane protein 187 [Gene - OMIM - HGNC]
- TMEM255A:transmembrane protein 255A [Gene - HGNC]
- TMEM31:transmembrane protein 31 [Gene - OMIM - HGNC]
- TMEM35A:transmembrane protein 35A [Gene - HGNC]
- TMEM47:transmembrane protein 47 [Gene - OMIM - HGNC]
- TMLHE:trimethyllysine hydroxylase, epsilon [Gene - OMIM - HGNC]
- TRO:trophinin [Gene - OMIM - HGNC]
- UBQLN2:ubiquilin 2 [Gene - OMIM - HGNC]
- UBE2A:ubiquitin conjugating enzyme E2 A [Gene - OMIM - HGNC]
- UBE2NL:ubiquitin conjugating enzyme E2 N like (gene/pseudogene) [Gene - HGNC]
- UBL4A:ubiquitin like 4A [Gene - OMIM - HGNC]
- UBA1:ubiquitin like modifier activating enzyme 1 [Gene - OMIM - HGNC]
- USP11:ubiquitin specific peptidase 11 [Gene - OMIM - HGNC]
- USP26:ubiquitin specific peptidase 26 [Gene - OMIM - HGNC]
- USP27X:ubiquitin specific peptidase 27 X-linked [Gene - OMIM - HGNC]
- USP51:ubiquitin specific peptidase 51 [Gene - HGNC]
- USP9X:ubiquitin specific peptidase 9 X-linked [Gene - OMIM - HGNC]
- UXT:ubiquitously expressed prefoldin like chaperone [Gene - OMIM - HGNC]
- UPRT:uracil phosphoribosyltransferase homolog [Gene - OMIM - HGNC]
- VMA21:vacuolar ATPase assembly factor VMA21 [Gene - OMIM - HGNC]
- VCX2:variable charge X-linked 2 [Gene - OMIM - HGNC]
- VCX3A:variable charge X-linked 3A [Gene - OMIM - HGNC]
- VCX3B:variable charge X-linked 3B [Gene - OMIM - HGNC]
- VCX:variable charge X-linked [Gene - OMIM - HGNC]
- VEGFD:vascular endothelial growth factor D [Gene - OMIM - HGNC]
- VGLL1:vestigial like family member 1 [Gene - OMIM - HGNC]
- ZC4H2:zinc finger C4H2-type containing [Gene - OMIM - HGNC]
- ZC3H12B:zinc finger CCCH-type containing 12B [Gene - OMIM - HGNC]
- ZRSR2:zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 [Gene - OMIM - HGNC]
- ZCCHC12:zinc finger CCHC-type containing 12 [Gene - OMIM - HGNC]
- ZCCHC13:zinc finger CCHC-type containing 13 [Gene - HGNC]
- ZCCHC18:zinc finger CCHC-type containing 18 [Gene - HGNC]
- ZDHHC15:zinc finger DHHC-type palmitoyltransferase 15 [Gene - OMIM - HGNC]
- ZDHHC9:zinc finger DHHC-type palmitoyltransferase 9 [Gene - OMIM - HGNC]
- ZMYM3:zinc finger MYM-type containing 3 [Gene - OMIM - HGNC]
- ZXDA:zinc finger X-linked duplicated A [Gene - OMIM - HGNC]
- ZXDB:zinc finger X-linked duplicated B [Gene - OMIM - HGNC]
- ZBTB33:zinc finger and BTB domain containing 33 [Gene - OMIM - HGNC]
- ZMAT1:zinc finger matrin-type 1 [Gene - OMIM - HGNC]
- ZNF157:zinc finger protein 157 [Gene - OMIM - HGNC]
- ZNF182:zinc finger protein 182 [Gene - OMIM - HGNC]
- ZNF185:zinc finger protein 185 with LIM domain [Gene - OMIM - HGNC]
- ZNF275:zinc finger protein 275 [Gene - HGNC]
- ZNF280C:zinc finger protein 280C [Gene - HGNC]
- ZNF41:zinc finger protein 41 [Gene - OMIM - HGNC]
- ZNF449:zinc finger protein 449 [Gene - OMIM - HGNC]
- ZNF630:zinc finger protein 630 [Gene - OMIM - HGNC]
- ZNF674:zinc finger protein 674 [Gene - OMIM - HGNC]
- ZNF711:zinc finger protein 711 [Gene - OMIM - HGNC]
- ZNF75D:zinc finger protein 75D [Gene - OMIM - HGNC]
- ZNF81:zinc finger protein 81 [Gene - OMIM - HGNC]
- ZFX:zinc finger protein X-linked [Gene - OMIM - HGNC]
- Variant type:
- copy number gain
- Cytogenetic location:
- Xp22.33-q28
- Genomic location:
- ChrX: 1 - 155270560 (on Assembly GRCh37)
- Preferred name:
- GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)
- Observations:
- 5
Condition(s)
- Name:
- Trisomy X syndrome
- Synonyms:
- 47 XXX syndrome; Trisomy X; Triple X syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018066; MedGen: C0221033
-
transmembrane protein 201 isoform X6 [Homo sapiens]
transmembrane protein 201 isoform X6 [Homo sapiens]gi|767902917|ref|XP_011539212.1|Protein
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See more...Assertion and evidence details
| Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
|---|---|---|---|---|---|---|
| SCV002568930 | Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital | no assertion criteria provided | Pathogenic | unknown, germline | clinical testing |
Summary from all submissions
| Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
|---|---|---|---|---|---|---|---|---|
| not provided | germline | yes | 5 | not provided | not provided | 5 | not provided | clinical testing |
| not provided | unknown | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital, SCV002568930.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
| 2 | not provided | 1 | not provided | not provided | clinical testing | not provided |
| 3 | not provided | 1 | not provided | not provided | clinical testing | not provided |
| 4 | not provided | 1 | not provided | not provided | clinical testing | not provided |
| 5 | not provided | 1 | not provided | not provided | clinical testing | not provided |
| 6 | not provided | 1 | not provided | not provided | clinical testing | not provided |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | unknown | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
| 2 | germline | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 3 | germline | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 4 | germline | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 5 | germline | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 6 | germline | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
Last Updated: Sep 1, 2024