| Usher Syndrome |
C0271097 |
ADGRV1
|
Causal
Pathogenic evidence from ClinVar
|
14740321, 24154662 |
ClinVar |
|
ARSG
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
BBS1
|
Causal
Pathogenic evidence from ClinVar
|
30718709 |
ClinVar |
|
CDH23
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CEP250
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
HARS1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MYO7A
|
Causal
Pathogenic evidence from ClinVar
|
9718356, 10094549, 10930322, 15965244, 17361009, 18181211, 24831256, 25404053, 25472526, 27460420, 28439001, 28944237 |
ClinVar |
|
PCDH15
|
Causal
Pathogenic evidence from ClinVar
|
19309154 |
ClinVar |
| Usher syndrome type 2 |
231178, C0339534 |
ADGRV1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MYO7A
|
Causal
Pathogenic evidence from ClinVar
|
24831256 |
ClinVar |
| Usher syndrome, type 2C |
C2931213 |
ADGRV1
|
Causal
Pathogenic evidence from ClinVar
|
9734811, 14740321, 16775142, 17295842, 22147658, 23035094, 25406310, 25572244, 25743181, 26164827, 26432996, 26872967 |
ClinVar |
| Usher Syndrome, Type I |
C1568247 |
ADGRV1
|
Causal
Pathogenic evidence from ClinVar
|
21569298 |
ClinVar |
|
CDH23
|
Causal
Pathogenic evidence from ClinVar
|
11090341, 11750125, 12075507, 12407180, 15537665, 20513143, 21569298, 21689626 |
ClinVar |
|
CIB2
|
Causal
Pathogenic evidence from ClinVar
|
23023331 |
ClinVar |
|
ESPN
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MYO7A
|
Causal
Pathogenic evidence from ClinVar
|
7870171, 7870172, 8622919, 8900236, 9002678, 9171832, 9382091, 9718356, 9843659, 10094549, 10364543, 10447383, 10930322, 10958658, 12112664, 15043528, 15660226, 15823922, 16400615, 16470552, 16679490, 16963483, 17361009, 18181211, 18700726, 19074810, 19299023, 19683999, 20052763, 20497194, 20613545, 21311020, 21436283, 21569298, 21738395, 21873662, 22135276, 22898263, 23148716, 23451239, 23559863, 23591405, 23770805, 23804846, 24105371, 24164807, 24194196, 24618850, 24831256, 24997346, 25080338, 25211151, 25404053, 25468891, 25558175, 25575603, 25788563, 25798947, 26309859, 26338283, 26445815, 26791358, 26872967, 26969326, 27013738, 27068579, 27440999, 27460420, 27583663, 27610647, 27729122, 27957503, 28281779, 28400833, 28472130, 28660889 |
ClinVar |
|
PCDH15
|
Causal
Pathogenic evidence from ClinVar
|
11138007, 11398101, 11487575, 12711741, 12782354, 15537665, 15634702, 15928608, 16260500, 24618850 |
ClinVar |
| Usher syndrome type 3 |
231183 |
ARSG
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CLRN1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
HARS1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Usher Syndrome, Type III |
C1568248 |
ARSG
|
Causal
Pathogenic evidence from ClinVar
|
29300381 |
ClinVar |
|
CLRN1
|
Causal
Pathogenic evidence from ClinVar
|
9719374, 11524702, 12080385, 12145752, 14569126, 15521980, 16028794, 16963483, 17407589, 17893653, 18273898, 18281613, 19423712, 19539019, 19753315, 21675857, 22135276, 22363448, 22787034, 22952768, 23304067, 24045267, 24596593, 26180195, 26943149, 27110679 |
ClinVar |
|
HARS1
|
Causal
Pathogenic evidence from ClinVar
|
22279524 |
ClinVar |
|
MYO7A
|
Causal
Pathogenic evidence from ClinVar
|
15965244 |
ClinVar |
| USHER SYNDROME, TYPE IV |
C4748364 |
ARSG
|
Causal
Pathogenic evidence from ClinVar
|
22689975, 29300381 |
ClinVar |
| Usher syndrome type 1 |
231169 |
CDH23
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CIB2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ESPN
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MYO7A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PCDH15
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Usher syndrome, type 1A |
C2931205 |
CDH23
|
Causal
Pathogenic evidence from ClinVar
|
21689626 |
ClinVar |
|
MYO7A
|
Causal
Pathogenic evidence from ClinVar
|
15965244 |
ClinVar |
|
PCDH15
|
Causal
Pathogenic evidence from ClinVar
|
19309154 |
ClinVar |
| Usher syndrome, type 1D |
C2931208 |
CDH23
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PCDH15
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY |
C1848640 |
CDH23
|
Causal
Pathogenic evidence from ClinVar
|
11090341, 11750125, 12075507, 12407180, 20513143, 21689626 |
ClinVar |
|
MYO7A
|
Causal
Pathogenic evidence from ClinVar
|
7870172, 8622919, 10958658, 18181211, 23559863, 25211151, 27013738, 28400833, 28660889 |
ClinVar |
| USHER SYNDROME, TYPE IA, FORMERLY |
C1848639 |
CDH23
|
Causal
Pathogenic evidence from ClinVar
|
11090341, 11750125, 12075507, 12407180, 20513143, 21689626 |
ClinVar |
|
MYO7A
|
Causal
Pathogenic evidence from ClinVar
|
7870172, 8622919, 10958658, 18181211, 23559863, 25211151, 27013738, 28400833, 28660889 |
ClinVar |
| USHER SYNDROME, TYPE IB (disorder) |
C1848638 |
CDH23
|
Causal
Pathogenic evidence from ClinVar
|
11090341, 11750125, 12075507, 12407180, 20513143, 21689626 |
ClinVar |
|
MYO7A
|
Causal
Pathogenic evidence from ClinVar
|
7870172, 8622919, 10958658, 18181211, 23559863, 25211151, 27013738, 28400833, 28660889 |
ClinVar |
| USHER SYNDROME, TYPE ID |
C1832845 |
CDH23
|
Causal
Pathogenic evidence from ClinVar
|
2706105, 11138009, 12075507, 15537665, 15660226, 16679490, 18429043, 23451239 |
ClinVar |
| USHER SYNDROME, TYPE IIA |
C1848634 |
CDH23
|
Causal
Pathogenic evidence from ClinVar
|
12075507, 12522556, 15353998 |
ClinVar |
| USHER SYNDROME, TYPE IJ |
C3553944 |
CIB2
|
Causal
Pathogenic evidence from ClinVar
|
9931475, 23023331 |
ClinVar |
| USHER SYNDROME, TYPE IIIB |
C3281066 |
HARS1
|
Causal
Pathogenic evidence from ClinVar
|
7755634, 22279524 |
ClinVar |
| Usher syndrome, type 1B |
C2931206 |
MYO7A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Usher Syndrome, Type II |
C1568249 |
MYO7A
|
Causal
Pathogenic evidence from ClinVar
|
15965244, 24831256 |
ClinVar |
| Usher syndrome, type 1F |
C2931210 |
PCDH15
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
