Gene Directory

446 genes with known genetic variants in our database.

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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)
TTN
titin
7833 variants Chr 2 "Fibronectin type III domain c...
MSH6
mutS homolog 6
2746 variants Chr 2 "MutS homologs|PWWP domain con...
MSH2
mutS homolog 2
2681 variants Chr 2 "MutS homologs|BRCA1-associate...
NEB
nebulin
2435 variants Chr 2 Nebulin family
SCN1A
sodium voltage-gated channel alpha subunit 1
1884 variants Chr 2 Sodium voltage-gated channel a...
ALMS1
ALMS1 centrosome and basal body associated protein
1249 variants Chr 2
DYSF
dysferlin
1127 variants Chr 2 Ferlin family
APOB
apolipoprotein B
965 variants Chr 2 Apolipoproteins
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
COL4A4
collagen type IV alpha 4 chain
776 variants Chr 2 Network forming collagens
COL4A3
collagen type IV alpha 3 chain
737 variants Chr 2 Network forming collagens
SCN2A
sodium voltage-gated channel alpha subunit 2
674 variants Chr 2 Sodium voltage-gated channel a...
SPAST
spastin
499 variants Chr 2 AAA ATPases
KIF1A
kinesin family member 1A
486 variants Chr 2 "Kinesins|Pleckstrin homology ...
OTOF
otoferlin
483 variants Chr 2 Ferlin family
BMPR2
bone morphogenetic protein receptor type 2
466 variants Chr 2 Type 2 receptor serine/threoni...
ZEB2
zinc finger E-box binding homeobox 2
428 variants Chr 2 "Zinc fingers C2H2-type|ZF cla...
CPS1
carbamoyl-phosphate synthase 1
413 variants Chr 2 Glutamine amidotransferase cla...
LRP2
LDL receptor related protein 2
386 variants Chr 2 Low density lipoprotein recept...
ABCB11
ATP binding cassette subfamily B member 11
366 variants Chr 2 ATP binding cassette subfamily...
ALK
ALK receptor tyrosine kinase
365 variants Chr 2 "Receptor tyrosine kinases|CD ...
LRPPRC
leucine rich pentatricopeptide repeat containing
347 variants Chr 2 "Mitochondrial respiratory cha...
NBAS
NBAS subunit of NRZ tethering complex
336 variants Chr 2 NRZ tethering complex
AGXT
alanine--glyoxylate aminotransferase
303 variants Chr 2 Transaminases
SCN9A
sodium voltage-gated channel alpha subunit 9
284 variants Chr 2 Sodium voltage-gated channel a...
ABCA12
ATP binding cassette subfamily A member 12
267 variants Chr 2 "ATP binding cassette subfamil...
CYP27A1
cytochrome P450 family 27 subfamily A member 1
246 variants Chr 2 Cytochrome P450 family 27
CNGA3
cyclic nucleotide gated channel subunit alpha 3
238 variants Chr 2 Cyclic nucleotide gated channe...
MBD5
methyl-CpG binding domain protein 5
236 variants Chr 2 "Methyl-CpG binding domain con...
COL5A2
collagen type V alpha 2 chain
235 variants Chr 2 "MicroRNA protein coding host ...
HADHA
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
233 variants Chr 2
SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1
209 variants Chr 2 "Pleckstrin homology domain co...
CERKL
CERK like autophagy regulator
200 variants Chr 2
IFT172
intraflagellar transport 172
196 variants Chr 2 "WD repeat domain containing|I...
PCARE
photoreceptor cilium actin regulator
190 variants Chr 2
SMARCAL1
SNF2 related chromatin remodeling annealing helicase 1
190 variants Chr 2 SNF2 related family
TTC21B
tetratricopeptide repeat domain 21B
190 variants Chr 2 "Tetratricopeptide repeat doma...
FAM161A
FAM161 centrosomal protein A
183 variants Chr 2
SATB2
SATB homeobox 2
183 variants Chr 2 CUT class homeoboxes and pseud...
DES
desmin
181 variants Chr 2 Intermediate filaments Type II...
NRXN1
neurexin 1
177 variants Chr 2 "Neurexins|MicroRNA protein co...
DNMT3A
DNA methyltransferase 3 alpha
167 variants Chr 2 "PWWP domain containing|MicroR...
ALS2
alsin Rho guanine nucleotide exchange factor ALS2
161 variants Chr 2 "Dbl family Rho GEFs|VPS9 doma...
NPHP1
nephrocystin 1
157 variants Chr 2 NPHP complex
UNC80
unc-80 subunit of NALCN channel complex
151 variants Chr 2 NALCN channel complex subunits
DIS3L2
DIS3 like 3'-5' exoribonuclease 2
142 variants Chr 2 MicroRNA protein coding host g...
BCS1L
BCS1 ubiquinol-cytochrome c reductase complex chaperone
141 variants Chr 2 "AAA ATPases|Mitochondrial res...
ABCG8
ATP binding cassette subfamily G member 8
140 variants Chr 2 ATP binding cassette subfamily...
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