| DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) |
C2673759 |
GJB6
|
Causal
Pathogenic evidence from ClinVar
|
9799458, 11017065, 12419304, 12788524, 14708603, 15213106, 15769851, 23863883, 23926005, 23981984, 24514865, 24522190, 24685692, 26551294, 27137747, 27817781 |
ClinVar |
| Deafness, Autosomal Recessive 1b |
C2675235 |
GJB6
|
Causal
Pathogenic evidence from ClinVar
|
9799458 |
ClinVar |
| Progressive hearing loss stapes fixation |
C1844678 |
GJB6
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Deafness, Autosomal Dominant 28 |
C1837640 |
GRHL2
|
Causal
Pathogenic evidence from ClinVar
|
25152456 |
ClinVar |
| DEAFNESS, AUTOSOMAL RECESSIVE 25 |
C1414017 |
GRXCR1
|
Causal
Pathogenic evidence from ClinVar
|
20137774, 20137778 |
ClinVar |
| DEAFNESS, AUTOSOMAL RECESSIVE 101 |
C3892049 |
GRXCR2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) |
C1852282 |
GSDME
|
Causal
Pathogenic evidence from ClinVar
|
9771715, 12853124, 14559215, 14676472, 14736743, 15173223, 17868390, 21522185, 22848872, 24506266, 24933359, 26915689 |
ClinVar |
| DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder) |
C1832932 |
GSDME
|
Causal
Pathogenic evidence from ClinVar
|
9771715, 30828794 |
ClinVar |
| DEAFNESS, AUTOSOMAL RECESSIVE 39 (disorder) |
C1842342 |
HGF
|
Causal
Pathogenic evidence from ClinVar
|
27610647 |
ClinVar |
| DEAFNESS, AUTOSOMAL DOMINANT 68 |
C4225240 |
HOMER2
|
Causal
Pathogenic evidence from ClinVar
|
25816005 |
ClinVar |
| DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) |
C1864818 |
ILDR1
|
Causal
Pathogenic evidence from ClinVar
|
21255762, 24990150 |
ClinVar |
| DEAFNESS, AUTOSOMAL RECESSIVE 89 |
C3151351 |
KARS1
|
Causal
Pathogenic evidence from ClinVar
|
8812440, 20920668, 23768514, 25330800, 27604308, 28496994, 28887846 |
ClinVar |
| DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT |
C3538946 |
KCNJ10
|
Causal
Pathogenic evidence from ClinVar
|
9367690, 19426954 |
ClinVar |
| Deafness, Autosomal Dominant 2A |
C2677637 |
KCNQ4
|
Causal
Pathogenic evidence from ClinVar
|
9126484, 10025409, 10369879, 10571947, 10925378, 21242547, 22420747, 23399560, 23443030, 23717403, 25116015, 26036578 |
ClinVar |
| Deafness, Autosomal Recessive 67 |
C1853223 |
LHFPL5
|
Causal
Pathogenic evidence from ClinVar
|
16459341, 16752389, 26437881, 28281779, 30177809 |
ClinVar |
| DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) |
C2746083 |
LOXHD1
|
Causal
Pathogenic evidence from ClinVar
|
21465660, 22341973, 22975204, 23226338, 23897863, 25333069, 25792669, 27959697 |
ClinVar |
| DEAFNESS, AUTOSOMAL RECESSIVE 63 |
C1969621 |
LRTOMT
|
Causal
Pathogenic evidence from ClinVar
|
18794526, 18953341, 21739586, 23053991, 28281779 |
ClinVar |
| DEAFNESS, AUTOSOMAL RECESSIVE 49 |
C1857811 |
MARVELD2
|
Causal
Pathogenic evidence from ClinVar
|
17186462, 18084694, 23979167, 25652404 |
ClinVar |
| DEAFNESS, AUTOSOMAL RECESSIVE 97 |
C4084709 |
MET
|
Causal
Pathogenic evidence from ClinVar
|
25941349 |
ClinVar |
| DEAFNESS, AUTOSOMAL DOMINANT 50 |
C3888123 |
MIR96
|
Causal
Pathogenic evidence from ClinVar
|
30245029 |
ClinVar |
| DEAFNESS, AUTOSOMAL RECESSIVE 74 |
C2239351 |
MSRB3
|
Causal
Pathogenic evidence from ClinVar
|
21185009, 24191262 |
ClinVar |
| Deafness, Autosomal Dominant 4 |
C1833503 |
MYH14
|
Causal
Pathogenic evidence from ClinVar
|
15015131, 16222661, 21480433, 27875632, 30828794 |
ClinVar |
| DEAFNESS, AUTOSOMAL DOMINANT 17 |
C1863659 |
MYH9
|
Causal
Pathogenic evidence from ClinVar
|
9390828, 10973259, 11023810, 11590545, 11752022, 12621333, 16969870, 23409987, 24186861, 25077172, 26226608 |
ClinVar |
| Deafness, Autosomal Recessive 3 |
C1838263 |
MYO15A
|
Causal
Pathogenic evidence from ClinVar
|
9603736, 11735029, 17546645, 20642360, 21917145, 22736430, 23208854, 23767834, 23967202, 24123792, 24875298, 24926664, 25792667, 27734841, 27870113, 30828794 |
ClinVar |
| Deafness, Autosomal Recessive 30 |
C1846784 |
MYO3A
|
Causal
Pathogenic evidence from ClinVar
|
21165622 |
ClinVar |
| Deafness, autosomal dominant nonsyndromic sensorineural 22 |
C2931767 |
MYO6
|
Causal
Pathogenic evidence from ClinVar
|
9259267, 11468689, 15060111 |
ClinVar |
| Deafness, Autosomal Recessive 37 |
C1843028 |
MYO6
|
Causal
Pathogenic evidence from ClinVar
|
9259267, 12687499 |
ClinVar |
| Deafness, Autosomal Dominant 11 |
C1832475 |
MYO7A
|
Causal
Pathogenic evidence from ClinVar
|
9354784, 9843659, 15121790, 15221449, 15300860 |
ClinVar |
| DEAFNESS, AUTOSOMAL RECESSIVE 2 |
C1838701 |
MYO7A
|
Causal
Pathogenic evidence from ClinVar
|
7870171, 8900236, 9002678, 9171832, 9171833, 9382091, 9843659, 10094549, 10447383, 10930322, 12112664, 15043528, 15660226, 15823922, 16400615, 16470552, 16679490, 16963483, 17361009, 18181211, 18484607, 18700726, 19074810, 19299023, 19375528, 19683999, 20052763, 20497194, 20613545, 20844544, 21311020, 21436283, 21569298, 21738395, 21873662, 22135276, 22898263, 23148716, 23208854, 23451239, 23559863, 23591405, 23770805, 23804846, 24105371, 24164807, 24194196, 24618850, 24831256, 24997346, 25080338, 25404053, 25468891, 25558175, 25575603, 25788563, 26226137, 26309859, 26338283, 26445815, 26486028, 26561413, 26791358, 26969326, 27068579, 27160483, 27344577, 27460420, 27583663, 27610647, 27729122, 27957503, 28281779, 28451532, 28472130 |
ClinVar |
| DEAFNESS, AUTOSOMAL DOMINANT 67 |
C4084712 |
OSBPL2
|
Causal
Pathogenic evidence from ClinVar
|
9872452 |
ClinVar |
| Deafness, Autosomal Recessive 22 |
C1846896 |
OTOA
|
Causal
Pathogenic evidence from ClinVar
|
23173898, 30828794 |
ClinVar |
| Deaf Mutism |
C4082305 |
OTOF
|
Causal
Pathogenic evidence from ClinVar
|
17967520 |
ClinVar |
|
PCDH15
|
Causal
Pathogenic evidence from ClinVar
|
10978835 |
ClinVar |
|
PJVK
|
Causal
Pathogenic evidence from ClinVar
|
17329413 |
ClinVar |
| Deafness, Acquired |
C0751068 |
OTOF
|
Causal
Pathogenic evidence from ClinVar
|
17967520 |
ClinVar |
|
PCDH15
|
Causal
Pathogenic evidence from ClinVar
|
10978835 |
ClinVar |
|
PJVK
|
Causal
Pathogenic evidence from ClinVar
|
17329413 |
ClinVar |
| DEAFNESS, AUTOSOMAL RECESSIVE (disorder) |
C1846647 |
OTOF
|
Causal
Pathogenic evidence from ClinVar
|
27082237 |
ClinVar |
|
PNPT1
|
Causal
Pathogenic evidence from ClinVar
|
23084290 |
ClinVar |
| Deafness, Autosomal Recessive 9 |
C1832828 |
OTOF
|
Causal
Pathogenic evidence from ClinVar
|
9657592, 10192385, 11483641, 12114484, 12127154, 14635104, 16097006, 16283880, 16371502, 17055430, 18381613, 19417007, 20224275, 20230791, 20504331, 21557232, 21935370, 24135434, 24746455, 24814232, 26437881, 27018795, 28766844 |
ClinVar |
| Prelingual Deafness |
C0011052 |
OTOF
|
Causal
Pathogenic evidence from ClinVar
|
17967520 |
ClinVar |
|
PCDH15
|
Causal
Pathogenic evidence from ClinVar
|
10978835 |
ClinVar |
|
PJVK
|
Causal
Pathogenic evidence from ClinVar
|
17329413 |
ClinVar |
| DEAFNESS, AUTOSOMAL RECESSIVE 18B |
C3554163 |
OTOG
|
Causal
Pathogenic evidence from ClinVar
|
9405633, 23122587 |
ClinVar |
| DEAFNESS, AUTOSOMAL RECESSIVE 84B |
C3554159 |
OTOGL
|
Causal
Pathogenic evidence from ClinVar
|
23122586 |
ClinVar |
| DEAFNESS, AUTOSOMAL DOMINANT 41 (disorder) |
C1842371 |
P2RX2
|
Causal
Pathogenic evidence from ClinVar
|
7566120, 23345450, 24211385 |
ClinVar |
| Deafness, Autosomal Recessive 23 |
C1836027 |
PCDH15
|
Causal
Pathogenic evidence from ClinVar
|
12711741, 14570705, 18719945, 22815625, 23135401, 24105371, 25262649, 25307757, 25525159, 28281779 |
ClinVar |
| DEAFNESS, AUTOSOMAL DOMINANT 74 |
C4748334 |
PDE1C
|
Causal
Pathogenic evidence from ClinVar
|
29860631 |
ClinVar |
| DEAFNESS, AUTOSOMAL RECESSIVE 59 |
C1857744 |
PJVK
|
Causal
Pathogenic evidence from ClinVar
|
16804542, 17718865, 22617256 |
ClinVar |
| DEAFNESS, AUTOSOMAL RECESSIVE 70 |
C1824925 |
PNPT1
|
Causal
Pathogenic evidence from ClinVar
|
23084290, 25457163, 27604308, 31752325 |
ClinVar |
