| 3M syndrome |
2616 |
CCDC8
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CUL7
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
OBSL1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Miller-McKusick-Malvaux-Syndrome (3M Syndrome) |
C1848862 |
CCDC8
|
Causal
Pathogenic evidence from ClinVar
|
21737058, 28675896 |
ClinVar |
|
CUL7
|
Causal
Pathogenic evidence from ClinVar
|
30980518 |
ClinVar |
|
OBSL1
|
Causal
Pathogenic evidence from ClinVar
|
30980518 |
ClinVar |
|
KLC4
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
30980518 |
- |
| Three M Syndrome 1 |
C2678312 |
CCDC8
|
Causal
Pathogenic evidence from ClinVar
|
21737058 |
ClinVar |
|
CUL7
|
Causal
Pathogenic evidence from ClinVar
|
16142236, 17675530, 19225462, 23018678 |
ClinVar |
| THREE M SYNDROME 3 |
C3280146 |
CCDC8
|
Causal
Pathogenic evidence from ClinVar
|
21737058, 28675896 |
ClinVar |
| Three M Syndrome 2 |
C2752041 |
OBSL1
|
Causal
Pathogenic evidence from ClinVar
|
19481195, 19877176, 21737058, 25923536 |
ClinVar |
|
INHA
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
