Variant listing based on patient origin - CCHMC Molecular Genetics Laboratory Mutation Database

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You can use this overview to view the variants and patients from the gene databases you select, based on the patient's origin fields. Examples are geographic origin or ethnic origin. More or less fields may be available, depending on which patient origin columns are activated.

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ABCB11 (ATP-binding cassette, sub-family B (MDR/TAP), m...)
ABCB4 (ATP-binding cassette, sub-family B (MDR/TAP), m...)
ACADM (MCAD acyl-Coenzyme A dehydrogenase, C-4 to C-12...)
ACADVL (VLCAD acyl-Coenzyme A dehydrogenase, very long ...)
ACTB (actin, beta)
ADA (adenosine deaminase)
ADAM17 (ADAM metallopeptidase domain 17)
ADAMTS13 (ADAM metallopeptidase with thrombospondin type ...)
ADRBK2 (adrenergic, beta, receptor kinase 2)
AICDA (activation-induced cytidine deaminase)
AIRE (autoimmune regulator)
AK2 (adenylate kinase 2)
AP3B1 (adaptor-related protein complex 3, beta 1 subunit)
APOL1 (apolipoprotein L, 1)
ATM (ataxia telangiectasia mutated)
ATP8B1 (ATPase, class I, type 8B, member 1)
BLM (Bloom syndrome, RecQ helicase-like)
BLNK (B-cell linker)
BLOC1S3 (biogenesis of lysosomal organelles complex-1, s...)
BLOC1S6 (biogenesis of lysosomal organelles complex-1, s...)
BRCA2 (breast cancer 2, early onset)
BRIP1 (BRCA1 interacting protein C-terminal helicase 1)
BTK (Bruton agammaglobulinemia tyrosine kinase)
C1QA (complement component 1, q subcomponent, A chain)
C1QB (complement component 1, q subcomponent, B chain)
C1QC (complement component 1, q subcomponent, C chain)
C1R (complement component 1, r subcomponent)
C1S (complement component 1, s subcomponent)
C2 (complement component 2)
C3 (complement component 3)
C4A (complement component 4A (Rodgers blood group))
C5 (complement component 5)
C6 (complement component 6)
C7 (complement component 7)
C8A (complement component 8, alpha polypeptide)
C8B (complement component 8, beta polypeptide)
C9 (complement component 9)
CARD11 (caspase recruitment domain family, member 11)
CARD14 (caspase recruitment domain family, member 14)
CARD8 (caspase recruitment domain family, member 8)
CARD9 (caspase recruitment domain family, member 9)
CASP10 (caspase 10, apoptosis-related cysteine peptidase)
CASP8 (caspase 8, apoptosis-related cysteine peptidase)
CD19 (CD19 molecule)
CD247 (CD247 molecule)
CD27 (CD27 molecule)
CD3D (CD3d molecule, delta (CD3-TCR complex))
CD3E (CD3e molecule, epsilon (CD3-TCR complex))
CD3G (CD3g molecule, gamma (CD3-TCR complex))
CD40 (CD40 molecule, TNF receptor superfamily member 5)
CD40LG (CD40 ligand)
CD59 (CD59 molecule, complement regulatory protein)
CD79A (CD79a molecule, immunoglobulin-associated alpha)
CD79B (CD79b molecule, immunoglobulin-associated beta)
CD81 (CD81 molecule)
CD8A (CD8a molecule)
CDH23 (cadherin-like 23)
CEBPE (CCAAT/enhancer binding protein (C/EBP), epsilon)
CFD (complement factor D (adipsin))
CFH (complement factor H)
CFI (complement factor I)
CFP (complement factor properdin)
CHD7 (chromodomain helicase DNA binding protein 7)
CIITA (class II, major histocompatibility complex, tra...)
CLEC7A (C-type lectin domain family 7, member A)
CLRN1 (USH3A clarin 1)
COLEC11 (collectin sub-family member 11)
CORO1A (coronin, actin binding protein, 1A)
CR2 (complement component (3d/Epstein Barr virus) re...)
CSF3R (colony stimulating factor 3 receptor (granulocyte))
CTLA4 (cytotoxic T-lymphocyte-associated protein 4)
CTSC (cathepsin C)
CXCR4 (chemokine (C-X-C motif) receptor 4)
CYBA (cytochrome b-245, alpha polypeptide)
CYBB (cytochrome b-245, beta polypeptide)
DCLRE1C (DNA cross-link repair 1C)
DFNB31 (deafness, autosomal recessive 31)
DKC1 (dyskeratosis congenita 1, dyskerin)
DNMT3B (DNA (cytosine-5-)-methyltransferase 3 beta)
DOCK8 (dedicator of cytokinesis 8)
DTNBP1 (dystrobrevin binding protein 1)
ELANE (ELA2 elastase, neutrophil expressed)
ERCC4 (excision repair cross-complementation group 4)
FADD (Fas (TNFRSF6)-associated via death domain)
FANCA (Fanconi anemia, complementation group A)
FANCB (Fanconi anemia, complementation group B)
FANCC (Fanconi anemia, complementation group C)
FANCD2 (Fanconi anemia, complementation group D2)
FANCE (Fanconi anemia, complementation group E)
FANCF (Fanconi anemia, complementation group F)
FANCG (Fanconi anemia, complementation group G)
FANCI (Fanconi anemia, complementation group I)
FANCL (Fanconi anemia, complementation group L)
FANCM (Fanconi anemia, complementation group M)
FAS (Fas (TNF receptor superfamily, member 6))
FASLG (Fas ligand (TNF superfamily, member 6))
FCGR2A (Fc fragment of IgG, low affinity IIa, receptor ...)
FCN3 (ficolin (collagen/fibrinogen domain containing) 3)
FERMT3 (fermitin family member 3)
FOXN1 (forkhead box N1)
FOXP3 (forkhead box P3)
FPR1 (formyl peptide receptor 1)
G6PC3 (glucose 6 phosphatase, catalytic, 3)
G6PD (glucose-6-phosphate dehydrogenase)
GAA (glucosidase, alpha; acid)
GATA1 (GATA binding protein 1 (globin transcription fa...)
GATA2 (GATA binding protein 2)
GBA (Gaucher Disease; glucosidase, beta, acid)
GFI1 (growth factor independent 1 transcription repre...)
GJB2 (gap junction protein, beta 2, 26kDa)
GJB6 (gap junction protein, beta 6, 30kDa)
GLA (galactosidase, alpha)
GPR98 (G protein-coupled receptor 98)
GSS (GSS glutathione synthetase)
HAX1 (HCLS1 associated protein X-1)
HPS1 (Hermansky-Pudlak syndrome 1)
HPS3 (Hermansky-Pudlak syndrome 3)
HPS4 (Hermansky-Pudlak syndrome 4)
HPS5 (Hermansky-Pudlak syndrome 5)
HPS6 (Hermansky-Pudlak syndrome 6)
ICOS (inducible T-cell co-stimulator)
IFNGR1 (interferon gamma receptor 1)
IFNGR2 (interferon gamma receptor 2 (interferon gamma t...)
IGLL1 (immunoglobulin lambda-like polypeptide 1)
IKBKG (inhibitor of kappa light polypeptide gene enhan...)
IKZF1 (IKAROS family zinc finger 1 (Ikaros))
IL10 (interleukin 10)
IL10RA (interleukin 10 receptor, alpha)
IL10RB (interleukin 10 receptor, beta)
IL12B (interleukin 12B)
IL12RB1 (interleukin 12 receptor, beta 1)
IL17F (interleukin 17F)
IL17RA (interleukin 17 receptor A)
IL1RN (interleukin 1 receptor antagonist)
IL21R (interleukin 21 receptor)
IL2RA (interleukin 2 receptor, alpha)
IL2RG (interleukin 2 receptor, gamma (severe combined ...)
IL36RN (interleukin 36 receptor antagonist)
IL7R (interleukin 7 receptor)
IRAK4 (interleukin-1 receptor-associated kinase 4)
IRF8 (interferon regulatory factor 8)
ISG15 (ISG15 ubiquitin-like modifier)
ITCH (itchy E3 ubiquitin protein ligase)
ITK (IL2-inducible T-cell kinase)
JAG1 (jagged 1 (Alagille syndrome))
JAK3 (Janus kinase 3)
KCNE1 (potassium voltage-gated channel, Isk-related fa...)
KCNQ1 (potassium voltage-gated channel, KQT-like subfa...)
KRAS (Kirsten rat sarcoma viral oncogene homolog)
LAD1 (ladinin 1)
LAMTOR2 (late endosomal/lysosomal adaptor, MAPK and MTOR...)
LCK (lymphocyte-specific protein tyrosine kinase)
LIG4 (ligase IV, DNA, ATP-dependent)
LPIN2 (lipin 2)
LRBA (LPS-responsive vesicle trafficking, beach and a...)
LRRC8A (leucine rich repeat containing 8 family, member A)
LYST (lysosomal trafficking regulator)
MAGT1 (magnesium transporter 1)
MALT1 (mucosa associated lymphoid tissue lymphoma tran...)
MASP2 (mannan-binding lectin serine peptidase 2)
MBL2 (mannose-binding lectin (protein C) 2, soluble)
MCM4 (minichromosome maintenance complex component 4)
MECP2 (methyl CpG binding protein 2 (Rett syndrome))
MEFV (Mediterranean fever)
MLPH (melanophilin)
MPL (myeloproliferative leukemia virus oncogene)
MRE11A (MRE11 meiotic recombination 11 homolog A (S. ce...)
MS4A1 (membrane-spanning 4-domains, subfamily A, member 1)
MTHFD1 (methylenetetrahydrofolate dehydrogenase (NADP+ ...)
MVK (mevalonate kinase)
MYD88 (myeloid differentiation primary response 88)
MYO15A (MYO15A myosin XVA)
MYO6 (myosin VI)
MYO7A (myosin VIIA)
NBN (nibrin)
NCF1 (neutrophil cytosolic factor 1)
NCF2 (neutrophil cytosolic factor 2)
NCF4 (neutrophil cytosolic factor 4, 40kDa)
NFKBIA (nuclear factor of kappa light polypeptide gene ...)
NHEJ1 (nonhomologous end-joining factor 1)
NHP2 (NHP2 ribonucleoprotein)
NLRP12 (NLR family, pyrin domain containing 12)
NLRP3 (NLR family, pyrin domain containing 3)
NOD2 (nucleotide-binding oligomerization domain conta...)
NOP10 (NOP10 ribonucleoprotein)
NRAS (neuroblastoma RAS viral (v-ras) oncogene homolog)
ORAI1 (ORAI calcium release-activated calcium modulator 1)
OTOF (otoferlin)
PALB2 (partner and localizer of BRCA2)
PCDH15 (protocadherin 15)
PIGA (phosphatidylinositol glycan anchor biosynthesis...)
PIK3CD (phosphatidylinositol-4,5-bisphosphate 3-kinase,...)
PIK3R1 (phosphoinositide-3-kinase, regulatory subunit 1...)
PLCG2 (phospholipase C, gamma 2 (phosphatidylinositol-...)
PMS2 (PMS2 postmeiotic segregation increased 2 (S. ce...)
PNP (purine nucleoside phosphorylase)
PRF1 (perforin 1 (pore forming protein))
PRKDC (protein kinase, DNA-activated, catalytic polype...)
PSIP1 (PC4 and SFRS1 interacting protein 1)
PSMB8 (proteasome (prosome, macropain) subunit, beta t...)
PSTPIP1 (proline-serine-threonine phosphatase interactin...)
PTPRC (protein tyrosine phosphatase, receptor type, C)
RAB27A (RAB27A, member RAS oncogene family)
RAC2 (ras-related C3 botulinum toxin substrate 2 (rho...)
RAD50 (RAD50 homolog (S. cerevisiae))
RAD51C (RAD51 paralog C)
RAG1 (recombination activating gene 1)
RAG2 (recombination activating gene 2)
RBCK1 (RanBP-type and C3HC4-type zinc finger containing 1)
RBM8A (RNA binding motif protein 8A)
RFX5 (regulatory factor X, 5 (influences HLA class II...)
RFXANK (regulatory factor X-associated ankyrin-containi...)
RFXAP (regulatory factor X-associated protein)
RHOH (ras homolog family member H)
RMRP (RNA component of mitochondrial RNA processing e...)
RNF168 (ring finger protein 168, E3 ubiquitin protein l...)
RPL11 (ribosomal protein L11)
RPL15 (ribosomal protein L15)
RPL26 (ribosomal protein L26)
RPL35A (ribosomal protein L35a)
RPL5 (ribosomal protein L5)
RPS10 (ribosomal protein S10)
RPS17 (ribosomal protein S17)
RPS19 (ribosomal protein S19)
RPS24 (ribosomal protein S24)
RPS26 (ribosomal protein S26)
RPS7 (ribosomal protein S7)
RTEL1 (regulator of telomere elongation helicase 1)
SBDS (Shwachman-Bodian-Diamond syndrome)
SERPINA1 (AAT serpin peptidase inhibitor, clade A (alpha-...)
SERPING1 (serpin peptidase inhibitor, clade G (C1 inhibit...)
SH2D1A (XLP SH2 domain protein 1A)
SLC26A4 (solute carrier family 26, member 4)
SLC35C1 (solute carrier family 35 (GDP-fucose transporte...)
SLC37A4 (solute carrier family 37 (glucose-6-phosphate t...)
SLC7A7 (solute carrier family 7 (amino acid transporter...)
SLX4 (SLX4 structure-specific endonuclease subunit)
SMARCAL1 (SWI/SNF related, matrix associated, actin depen...)
SOCS1 (suppressor of cytokine signaling 1)
SP110 (SP110 nuclear body protein)
SPINK5 (serine peptidase inhibitor, Kazal type 5)
SRP72 (signal recognition particle 72kDa)
STAT1 (signal transducer and activator of transcriptio...)
STAT3 (signal transducer and activator of transcriptio...)
STAT5B (signal transducer and activator of transcriptio...)
STIM1 (stromal interaction molecule 1)
STK10 (serine/threonine kinase 10)
STK4 (serine/threonine kinase 4)
STX11 (syntaxin 11)
STXBP2 (syntaxin binding protein 2)
TAP1 (transporter 1, ATP-binding cassette, sub-family...)
TAP2 (transporter 2, ATP-binding cassette, sub-family...)
TAPBP (TAP binding protein (tapasin))
TAZ (tafazzin)
TBK1 (TANK-binding kinase 1)
TBX1 (T-box 1)
TERC (telomerase RNA component)
TERT (telomerase reverse transcriptase)
TICAM1 (toll-like receptor adaptor molecule 1)
TINF2 (TERF1 (TRF1)-interacting nuclear factor 2)
TLR3 (toll-like receptor 3)
TMC1 (transmembrane channel-like 1)
TMC6 (transmembrane channel-like 6)
TMC8 (transmembrane channel-like 8)
TMIE (transmembrane inner ear)
TMPRSS3 (transmembrane protease, serine 3)
TNFRSF13B (tumor necrosis factor receptor superfamily, mem...)
TNFRSF13C (tumor necrosis factor receptor superfamily, mem...)
TNFRSF1A (tumor necrosis factor receptor superfamily, mem...)
TNKS (tankyrase, TRF1-interacting ankyrin-related ADP...)
TRAF3 (TNF receptor-associated factor 3)
TTC7A (tetratricopeptide repeat domain 7A)
TYK2 (tyrosine kinase 2)
UNC119 (unc-119 homolog (C. elegans))
UNC13D (unc-13 homolog D (C. elegans))
UNC93B1 (unc-93 homolog B1 (C. elegans))
UNG (uracil-DNA glycosylase)
USB1 (U6 snRNA biogenesis 1)
USH1C (Usher syndrome 1C (autosomal recessive, severe))
USH1G (Usher syndrome 1G (autosomal recessive))
USH2A (Usher syndrome 2A (autosomal recessive, mild))
VPS13B (vacuolar protein sorting 13 homolog B (yeast))
VPS45 (vacuolar protein sorting 45 homolog (S. cerevis...)
WAS (Wiskott-Aldrich syndrome (eczema-thrombocytopenia))
WFS1 (Wolfram syndrome 1 (wolframin))
WIPF1 (WAS/WASL interacting protein family, member 1)
WRAP53 (WD repeat containing, antisense to TP53)
XIAP (BIRC4 X-linked inhibitor of apoptosis)
XK (X-linked Kx blood group (McLeod syndrome))
ZAP70 (zeta-chain (TCR) associated protein kinase 70kDa)
ZBTB24 (zinc finger and BTB domain containing 24)