Gene Directory

6,394 genes with known genetic variants in our database.

All Chr 1(621) Chr 2(446) Chr 3(370) Chr 4(242) Chr 5(266) Chr 6(311) Chr 7(286) Chr 8(216) Chr 9(250) Chr 10(250) Chr 11(386) Chr 12(324) Chr 13(111) Chr 14(198) Chr 15(221) Chr 16(276) Chr 17(359) Chr 18(87) Chr 19(346) Chr 20(177) Chr 21(71) Chr 22(147) Chr X(397) Chr Y(4)
RAD50
RAD50 double strand break repair protein
592 variants Chr 5 "BRCA1 C complex|MRN complex"
COL1A2
collagen type I alpha 2 chain
581 variants Chr 7 Fibrillar collagens
JAG1
jagged canonical Notch ligand 1
580 variants Chr 20 "CD molecules|MicroRNA protein...
GCK
glucokinase
571 variants Chr 7 Hexokinase family
ZNF469
zinc finger protein 469
571 variants Chr 16 Zinc fingers C2H2-type
AGL
amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase
570 variants Chr 1 Glycoside hydrolase family
PCDH15
protocadherin related 15
566 variants Chr 10 "Cadherin related|MicroRNA pro...
STK11
serine/threonine kinase 11
566 variants Chr 19 STK11 family kinases
KCNQ1
potassium voltage-gated channel subfamily Q member 1
558 variants Chr 11 Potassium voltage-gated channe...
CRB1
crumbs cell polarity complex component 1
556 variants Chr 1 Crumbs complex components
FLCN
folliculin
552 variants Chr 17 DENN domain containing
GLA
galactosidase alpha
547 variants Chr X Galactosidases alpha
FH
fumarate hydratase
544 variants Chr 1
POLG
DNA polymerase gamma, catalytic subunit
543 variants Chr 15 "DNA polymerases|MicroRNA prot...
CAPN3
calpain 3
539 variants Chr 15 "EF-hand domain containing|Cal...
ENG
endoglin
537 variants Chr 9 CD molecules
NPHS1
NPHS1 adhesion molecule, nephrin
533 variants Chr 19 "Fibronectin type III domain c...
COL6A2
collagen type VI alpha 2 chain
531 variants Chr 21 Collagens
DYNC1H1
dynein cytoplasmic 1 heavy chain 1
531 variants Chr 14 Dynein 1 complex subunits
F8
coagulation factor VIII
528 variants Chr X Multicopper oxidase family
KMT2A
lysine methyltransferase 2A
518 variants Chr 11 "PHD finger proteins|Zinc fing...
SLC26A4
solute carrier family 26 member 4
510 variants Chr 7 Solute carrier family 26
RET
ret proto-oncogene
508 variants Chr 10 "Cadherin related|Receptor tyr...
RECQL4
RecQ like helicase 4
507 variants Chr 8 RecQ like helicases
ACADVL
acyl-CoA dehydrogenase very long chain
503 variants Chr 17 "Acyl-CoA dehydrogenase family...
SPAST
spastin
499 variants Chr 2 AAA ATPases
CACNA1H
calcium voltage-gated channel subunit alpha1 H
498 variants Chr 16 Calcium voltage-gated channel ...
COL6A1
collagen type VI alpha 1 chain
493 variants Chr 21 Collagens
FBN2
fibrillin 2
493 variants Chr 5 Fibrillin family
KIF1A
kinesin family member 1A
486 variants Chr 2 "Kinesins|Pleckstrin homology ...
PCNT
pericentrin
485 variants Chr 21
OTOF
otoferlin
483 variants Chr 2 Ferlin family
ABCD1
ATP binding cassette subfamily D member 1
480 variants Chr X ATP binding cassette subfamily...
WFS1
wolframin ER transmembrane glycoprotein
477 variants Chr 4
GLDC
glycine decarboxylase
470 variants Chr 9
CDKL5
cyclin dependent kinase like 5
469 variants Chr X "Cyclin dependent kinases|Cili...
BMPR2
bone morphogenetic protein receptor type 2
466 variants Chr 2 Type 2 receptor serine/threoni...
PEX1
peroxisomal biogenesis factor 1
463 variants Chr 7 "AAA ATPases|Peroxins"
ZFYVE26
zinc finger FYVE-type containing 26
463 variants Chr 14 Zinc fingers FYVE-type
PKP2
plakophilin 2
462 variants Chr 12 "Armadillo repeat containing|P...
OPRM1
opioid receptor mu 1
460 variants Chr 6 Opioid receptors
ASPM
assembly factor for spindle microtubules
458 variants Chr 1
LOXHD1
lipoxygenase homology PLAT domains 1
458 variants Chr 18
WRN
WRN RecQ like helicase
455 variants Chr 8 "Exonucleases|RecQ like helica...
ACVRL1
activin A receptor like type 1
452 variants Chr 12 Type 1 receptor serine/threoni...
COL11A1
collagen type XI alpha 1 chain
452 variants Chr 1 Fibrillar collagens
CACNA1S
calcium voltage-gated channel subunit alpha1 S
450 variants Chr 1 Calcium voltage-gated channel ...
SYNGAP1
synaptic Ras GTPase activating protein 1
447 variants Chr 6 "C2 and RasGAP domain containi...
SETX
senataxin
446 variants Chr 9 "UPF1 like RNA helicases|SSU p...
AXIN2
axin 2
438 variants Chr 17
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