MAMLD1 Chromosome X
Mastermind like domain containing 1
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What This Gene Does
This gene encodes a mastermind-like domain containing protein. This protein may function as a transcriptional co-activator. Mutations in this gene are the cause of X-linked hypospadias type 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
Associated Conditions (6)
Inborn genetic diseases
Hypospadias 2
X-linked
MAMLD1-related disorder
46
XY ovotesticular disorder of sex development
Key Variants
RS138272061
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142319986
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142908182
Conflicting classifications of pathogenicity
Hypospadias 2, X-linked, MAMLD1-related disorder
Health Risk
RS145175147
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hypospadias 2, X-linked
Health Risk
RS148910161
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS151207889
Conflicting classifications of pathogenicity
Health Risk
RS1135402752
Pathogenic
Hypospadias 2, X-linked, Hypospadias 2
Health Risk
RS121909493
Pathogenic
Hypospadias 2, X-linked, Hypospadias 2
Health Risk
RS121909494
Pathogenic
Hypospadias 2, X-linked, Hypospadias 2
Health Risk
RS121909495
Pathogenic
Hypospadias 2, X-linked, 46
Health Risk
RS2036384866
Pathogenic
Health Risk
RS2148300897
Pathogenic
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138272061 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142319986 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142908182 | Health Risk | Conflicting classifications of pathogenicity | Hypospadias 2, X-linked, MAMLD1-related disorder |
| RS145175147 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hypospadias 2, X-linked |
| RS148910161 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS151207889 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1135402752 | Health Risk | Pathogenic | Hypospadias 2, X-linked, Hypospadias 2 |
| RS121909493 | Health Risk | Pathogenic | Hypospadias 2, X-linked, Hypospadias 2 |
| RS121909494 | Health Risk | Pathogenic | Hypospadias 2, X-linked, Hypospadias 2 |
| RS121909495 | Health Risk | Pathogenic | Hypospadias 2, X-linked, 46 |
| RS2036384866 | Health Risk | Pathogenic | — |
| RS2148300897 | Health Risk | Pathogenic | — |