| Bartter Disease |
C0004775 |
BSND
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CLCNKB
|
Causal
Pathogenic evidence from ClinVar
|
10561751 |
ClinVar |
|
KCNJ1
|
Causal
Pathogenic evidence from ClinVar
|
10561751, 12911542, 22275899 |
ClinVar |
|
SLC12A1
|
Causal
Pathogenic evidence from ClinVar
|
10561751 |
ClinVar |
|
CYP17A1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
REN
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
929154, 3519017, 15976003 |
- |
|
SCNN1B
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
SLC12A3
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
| BARTTER SYNDROME, TYPE 4A |
C1865270 |
BSND
|
Causal
Pathogenic evidence from ClinVar
|
9463315, 11687798, 11734858, 12111250, 12574213, 12761627, 16328537, 16572343, 16583241, 16935888, 18776122, 18833191, 19096086, 21269598, 23110775, 24902942, 26537508, 27234911 |
ClinVar |
| BARTTER SYNDROME, TYPE 4B |
C2751312 |
CLCNKA
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CLCNKB
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS |
C4310805 |
CLCNKA
|
Causal
Pathogenic evidence from ClinVar
|
15044642, 18310267 |
ClinVar |
|
CLCNKB
|
Causal
Pathogenic evidence from ClinVar
|
16391491, 18310267, 23550235 |
ClinVar |
| Bartter syndrome, type 3 |
C1846343 |
CLCNKB
|
Causal
Pathogenic evidence from ClinVar
|
9326936, 17622951, 23550235, 24058621 |
ClinVar |
| Classic Bartter syndrome |
93605 |
CLCNKB
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Bartter syndrome, antenatal , type 2 |
C1855849 |
KCNJ1
|
Causal
Pathogenic evidence from ClinVar
|
8841184, 9002665, 9727001, 23341834 |
ClinVar |
| Bartter syndrome, antenatal type 1 |
C1866495 |
KCNJ1
|
Causal
Pathogenic evidence from ClinVar
|
8841184, 9002665, 23782368 |
ClinVar |
|
MAGED2
|
Causal
Pathogenic evidence from ClinVar
|
27120771 |
ClinVar |
|
SLC12A1
|
Causal
Pathogenic evidence from ClinVar
|
8640224, 9585600, 12761241, 16807401, 17998760, 20219833, 28095294 |
ClinVar |
| BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT |
C4310820 |
MAGED2
|
Causal
Pathogenic evidence from ClinVar
|
27120771 |
ClinVar |
