Database of Pathogenic Variants
Home
Variants
Diseases
Genes
About
Disease List
Show
10
25
50
100
entries
Search:
Search
Disease Name
0
1
2
Disease ID
0
1
2
Associated Genes and Variants
0
1
2
OMIM:607595
COL4A1
NM_001845.5:c.1382-1G>C
NM_001845.5:c.1835G>A
NM_001845.5:c.1963G>A
NM_001845.5:c.1990+1G>A
NM_001845.5:c.2608G>A
NM_001845.5:c.2689G>A
NM_001845.5:c.2842G>A
NM_001845.5:c.2931dupT
NM_001845.5:c.3122G>A
NM_001845.5:c.3245G>A
NM_001845.5:c.3976G>A
NM_001845.5:c.3995G>A
NM_001845.5:c.4843G>A
NM_001845.5:c.4887C>A
NM_001845:c.3104G>T
Show more...
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
OMIM:246450
HMGCL
NM_000191.2:c.242G>A
NM_000191.2:c.31C>T
3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency
OMIM:605911
HMGCS2
NM_005518.3:c.1016+1G>A
NM_005518.3:c.1162G>A
3-hydroxyisobutryl-CoA hydrolase deficiency
OMIM:250620
HIBCH
NM_014362.3:c.287C>A
3-ketothiolase deficiency
OMIM:203750
ABCD1
NM_000033.3:c.1768C>T
ACAT1
NM_000019.3:c.1006-1G>C
NM_000019.3:c.1006-2A>C
NM_000019.3:c.1016_1018dupATG
NM_000019.3:c.1040T>C
NM_000019.3:c.1163+2T>C
NM_000019.3:c.1168T>C
NM_000019.3:c.1189C>G
NM_000019.3:c.121-13T>A
NM_000019.3:c.133_238del
NM_000019.3:c.149delC
NM_000019.3:c.163_167delinsAA
NM_000019.3:c.278A>G
NM_000019.3:c.2T>C
NM_000019.3:c.380C>T
NM_000019.3:c.395C>G
NM_000019.3:c.431A>C
NM_000019.3:c.455G>C
NM_000019.3:c.52dupC
NM_000019.3:c.556G>T
NM_000019.3:c.578T>C
NM_000019.3:c.578T>G
NM_000019.3:c.622C>T
NM_000019.3:c.826+1G>T
NM_000019.3:c.826+5G>T
NM_000019.3:c.935T>C
NM_000019.3:c.951C>T
NM_000019.3:c.997G>C
NM_000019.4:c.1006-1G>C
NM_000019.4:c.1006-2A>C
NM_000019.4:c.1059T>A
NM_000019.4:c.1124A>G
NM_000019.4:c.1136G>T
NM_000019.4:c.1138G>A
NM_000019.4:c.1163+2T>C
NM_000019.4:c.13G>C
NM_000019.4:c.149delC
NM_000019.4:c.218A>C
NM_000019.4:c.254_256delAAG
NM_000019.4:c.278A>G
NM_000019.4:c.2T>A
NM_000019.4:c.435+1G>A
NM_000019.4:c.455G>C
NM_000019.4:c.472A>G
NM_000019.4:c.473A>G
NM_000019.4:c.547G>A
NM_000019.4:c.623G>A
NM_000019.4:c.655T>C
NM_000019.4:c.731-46_752del68
NM_000019.4:c.754_755insCT
NM_000019.4:c.756_758delAGA
NM_000019.4:c.814C>T
NM_000019.4:c.826+1G>T
NM_000019.4:c.83_84delAT
NM_000019.4:c.844A>C
NM_000019.4:c.890C>T
NM_000019.4:c.901G>C
NM_000019.4:c.935T>C
NM_000019.4:c.940+84C>T
NM_000019.4:c.997G>C
Show more...
3-methylcrotonoyl-CoA carboxylase 1 deficiency
OMIM:210200
MCCC1
NM_020166.4:c.1380T>G
NM_020166.4:c.1750C>T
NM_020166.4:c.901_902delAA
3-methylcrotonoyl-CoA carboxylase 2 deficiency
OMIM:210210
MCCC2
NM_022132.4:c.1054_1055delGG
NM_022132.4:c.1624_1625dupGG
NM_022132.4:c.569A>G
NM_022132.4:c.592C>T
NM_022132.4:c.653_654delinsTT
NM_022132.4:c.838G>T
Show more...
3M syndrome 1
OMIM:273750
CUL7
NM_014780.4:c.203G>A
NM_014780.4:c.2975G>C
NM_014780.4:c.4355G>A
46,XX sex reversal 4
OMIM:617480
NR5A1
NM_004959.4:c.274C>T
46,XY sex reversal 2
OMIM:300018
NR0B1
NM_000475.4:c.8delG
Showing 1 to 10 of 903 entries
Prev
1
2
3
4
5
Next