| Alport Syndrome |
C1567741 |
COL4A3
|
Causal
Pathogenic evidence from ClinVar
|
12631109, 24052634 |
ClinVar |
|
COL4A4
|
Causal
Pathogenic evidence from ClinVar
|
24052634 |
ClinVar |
|
COL4A5
|
Causal
Pathogenic evidence from ClinVar
|
10563487, 14514738, 14993485, 15153557, 16301374, 23085274, 25572247, 27725546, 27796712, 28542346, 29270492, 30582011 |
ClinVar |
|
MFF-DT
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
MYH9
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
10973259 |
- |
| ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE |
C4746745 |
COL4A3
|
Causal
Pathogenic evidence from ClinVar
|
7780062, 7987301, 7987396, 9195222, 9269635, 11044206, 11134255, 12028435, 14582039, 15954103, 18436078, 22887978, 23297803, 23927549, 24033287, 24052634, 24633401, 24854265, 25307543, 25381091, 25514610, 25525159, 25575550, 26346198, 27281700, 27627812, 28117080, 28542346, 28570636 |
ClinVar |
|
COL4A4
|
Causal
Pathogenic evidence from ClinVar
|
7987396, 9792860, 12325029, 12748344, 14582039, 15954103, 16338941, 17396119, 19129241, 24052634, 24633401, 24854265, 25307543, 25381091, 25525159, 25596306, 25755845, 26809805, 26934356, 27281700, 28542346, 28632965 |
ClinVar |
|
MFF-DT
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
7780062, 7987301, 7987396, 9195222, 11044206, 11134255, 12028435, 14582039, 15954103, 18436078, 22887978, 24033287, 24052634, 24633401, 24854265, 25307543, 25514610, 25525159, 25575550, 26346198, 27281700, 27627812, 28117080, 28542346 |
- |
| ALPORT SYNDROME 3, AUTOSOMAL DOMINANT |
C4746547 |
COL4A3
|
Causal
Pathogenic evidence from ClinVar
|
9195222, 9269635, 11044206, 11134255, 24052634, 25381091, 30828794 |
ClinVar |
|
COL4A4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MFF-DT
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
9195222, 30828794 |
- |
| Alport Syndrome, Autosomal Dominant |
C1567743 |
COL4A3
|
Causal
Pathogenic evidence from ClinVar
|
12631109, 24052634 |
ClinVar |
|
COL4A4
|
Causal
Pathogenic evidence from ClinVar
|
9269635, 11572889, 15086897, 19129241, 24052634 |
ClinVar |
|
COL4A5
|
Causal
Pathogenic evidence from ClinVar
|
14514738 |
ClinVar |
|
MYH9
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
10973259 |
- |
|
NPHS2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
26138234 |
- |
| Alport Syndrome, Autosomal Recessive |
C1567744 |
COL4A3
|
Causal
Pathogenic evidence from ClinVar
|
12631109, 24052634 |
ClinVar |
|
COL4A4
|
Causal
Pathogenic evidence from ClinVar
|
24052634 |
ClinVar |
|
COL4A5
|
Causal
Pathogenic evidence from ClinVar
|
14514738 |
ClinVar |
|
MYH9
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
10973259 |
- |
|
NPHS2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
26138234 |
- |
| Alport syndrome, dominant type |
C2931253 |
COL4A3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
COL4A4
|
Causal
Pathogenic evidence from ClinVar
|
9269635, 11572889, 15086897, 19129241 |
ClinVar |
| Alport syndrome, recessive type |
C2931254 |
COL4A3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
COL4A4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Autosomal dominant Alport syndrome |
88918 |
COL4A3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
COL4A4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Autosomal recessive Alport syndrome |
88919 |
COL4A3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
COL4A4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Hemorrhagic hereditary nephritis |
C2931861 |
COL4A3
|
Causal
Pathogenic evidence from ClinVar
|
12631109 |
ClinVar |
|
MYH9
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
10973259 |
- |
| ALPORT SYNDROME 1, X-LINKED |
C4746986 |
COL4A5
|
Causal
Pathogenic evidence from ClinVar
|
1352287, 1363780, 1376965, 1598909, 1672282, 7599631, 7853788, 7969679, 8081393, 8406498, 8648925, 8651292, 8651296, 8829632, 8940267, 9150741, 9195222, 9452056, 9848783, 10094548, 10561141, 10563487, 10684360, 10862091, 10955921, 11004279, 11223851, 11462238, 12105244, 12436246, 14514738, 15780079, 15954103, 16941480, 17396119, 17660027, 18616531, 19693995, 19919694, 19965530, 20378821, 21143337, 21332469, 21505094, 22921432, 23085274, 23732293, 24033287, 24304881, 24337245, 24522658, 24854265, 25307721, 26168235, 26581810, 26809805, 26866448, 26934356, 27725546, 27859054, 28013382, 28570636 |
ClinVar |
|
COQ2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
