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)
DICER1
dicer 1, ribonuclease III
929 variants Chr 14 "Endoribonucleases|MicroRNA pr...
CDH1
cadherin 1
914 variants Chr 16 "CD molecules|Type I classical...
RB1
RB transcriptional corepressor 1
903 variants Chr 13 Receptor ligands
FLNC
filamin C
902 variants Chr 7 Filamin family
ATP7B
ATPase copper transporting beta
892 variants Chr 13 ATPase copper transporting
CEP290
centrosomal protein 290
892 variants Chr 12 MKS complex
SYNE1
spectrin repeat containing nuclear envelope protein 1
882 variants Chr 6 "Spectrin repeat containing nu...
CDH23
cadherin related 23
869 variants Chr 10 "Cadherin related|MicroRNA pro...
MUTYH
mutY DNA glycosylase
862 variants Chr 1 DNA glycosylases
RYR2
ryanodine receptor 2
853 variants Chr 1 "Ryanodine receptors|EF-hand d...
BARD1
BRCA1 associated RING domain 1
834 variants Chr 2 "Ring finger proteins|Ankyrin ...
COL3A1
collagen type III alpha 1 chain
819 variants Chr 2 "MicroRNA protein coding host ...
COL6A3
collagen type VI alpha 3 chain
794 variants Chr 2 Collagens
KCNH2
potassium voltage-gated channel subfamily H member 2
793 variants Chr 7 "Potassium voltage-gated chann...
MYO15A
myosin XVA
790 variants Chr 17 "Myosin heavy chains, class XV...
PLEC
plectin
778 variants Chr 8 "Plakins|MicroRNA protein codi...
COL4A4
collagen type IV alpha 4 chain
776 variants Chr 2 Network forming collagens
MYH7
myosin heavy chain 7
761 variants Chr 14 "Myosin heavy chains, class II...
SCN5A
sodium voltage-gated channel alpha subunit 5
759 variants Chr 3 Sodium voltage-gated channel a...
CACNA1A
calcium voltage-gated channel subunit alpha1 A
746 variants Chr 19 Calcium voltage-gated channel ...
COL4A3
collagen type IV alpha 3 chain
737 variants Chr 2 Network forming collagens
ABCC8
ATP binding cassette subfamily C member 8
728 variants Chr 11 ATP binding cassette subfamily...
GAA
alpha glucosidase
726 variants Chr 17 Glycoside hydrolase family 31
SMARCA4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
717 variants Chr 19 "SNF2 related family|Bromodoma...
BLM
BLM RecQ like helicase
713 variants Chr 15 "RecQ like helicases|BRCA1-ass...
NSD1
nuclear receptor binding SET domain protein 1
709 variants Chr 5 "PHD finger proteins|Histone l...
MEN1
menin 1
703 variants Chr 11
PHEX
phosphate regulating endopeptidase X-linked
699 variants Chr X M13 metallopeptidases
FLNA
filamin A
695 variants Chr X Filamin family
LZTR1
leucine zipper like post translational regulator 1
679 variants Chr 22 BTB domain containing
NBN
nibrin
676 variants Chr 8 "BRCA1 C complex|MRN complex"
PAH
phenylalanine hydroxylase
675 variants Chr 12 Aromatic amino acid hydroxylas...
NOTCH1
notch receptor 1
674 variants Chr 9 "Notch receptors|MicroRNA prot...
SCN2A
sodium voltage-gated channel alpha subunit 2
674 variants Chr 2 Sodium voltage-gated channel a...
MECP2
methyl-CpG binding protein 2
659 variants Chr X Methyl-CpG binding domain cont...
KCNQ2
potassium voltage-gated channel subfamily Q member 2
658 variants Chr 20 Potassium voltage-gated channe...
COL5A1
collagen type V alpha 1 chain
654 variants Chr 9 Fibrillar collagens
NPC1
NPC intracellular cholesterol transporter 1
654 variants Chr 18 Solute carrier family 65
MSH3
mutS homolog 3
653 variants Chr 5 MutS homologs
ANKRD11
ankyrin repeat domain 11
647 variants Chr 16 Ankyrin repeat domain containi...
RPGR
retinitis pigmentosa GTPase regulator
644 variants Chr X
ARID1B
AT-rich interaction domain 1B
625 variants Chr 6 "AT-rich interaction domain co...
RAD51C
RAD51 paralog C
625 variants Chr 17 "FA complementation groups|RAD...
NIPBL
NIPBL cohesin loading factor
621 variants Chr 5 Armadillo like helical domain ...
CREBBP
CREB binding lysine acetyltransferase
616 variants Chr 16 "Zinc fingers ZZ-type|Lysine a...
DYNC2H1
dynein cytoplasmic 2 heavy chain 1
615 variants Chr 11 Dynein 2 complex subunits
LMNA
lamin A/C
613 variants Chr 1 Lamins
BAP1
BRCA1 associated deubiquitinase 1
611 variants Chr 3 Ubiquitin C-terminal hydrolase...
ABCB1
ATP binding cassette subfamily B member 1
602 variants Chr 7 "CD molecules|ATP binding cass...
SPG11
SPG11 vesicle trafficking associated, spatacsin
595 variants Chr 15
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