GREB1L Chromosome 18
GREB1 like retinoic acid receptor coactivator
Upload your DNA to see your personal genotypes for variants in GREB1L.
What This Gene Does
Acts upstream of or within kidney development. Predicted to be located in membrane. Implicated in autosomal dominant nonsyndromic deafness 80 and renal agenesis. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (14)
Renal agenesis and hypodysplasia
GREB1L-related disorder
Renal cortical hyperechogenicity
Renal hypodysplasia/aplasia 3
Mayer-Rokitansky-Kuster-Hauser syndrome
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Short stature
Profound hearing impairment
Hearing loss
autosomal dominant 80
Congenital anomaly of kidney and urinary tract
Mayer-Rokitansky-Küster-Hauser syndrome type 2
Inner ear malformation
Mayer Rokitansky Kuster Hauser syndrome type 1
Key Variants
RS1409376788
association
Renal agenesis and hypodysplasia, Renal agenesis and hypodysplasia
Health Risk
RS1465443065
association
Renal agenesis and hypodysplasia, Renal agenesis and hypodysplasia
Health Risk
RS1598751507
association
Renal agenesis and hypodysplasia, Renal agenesis and hypodysplasia
Health Risk
RS1598769185
association
Renal agenesis and hypodysplasia, Renal agenesis and hypodysplasia
Health Risk
RS1598859662
association
Renal agenesis and hypodysplasia, Renal agenesis and hypodysplasia
Health Risk
RS1598947815
association
Renal agenesis and hypodysplasia, Renal agenesis and hypodysplasia
Health Risk
RS1598958721
association
Renal agenesis and hypodysplasia, Renal agenesis and hypodysplasia
Health Risk
RS1598958773
association
Renal agenesis and hypodysplasia, Renal agenesis and hypodysplasia
Health Risk
RS766987038
association
Renal agenesis and hypodysplasia, Renal agenesis and hypodysplasia
Health Risk
RS1168976920
Conflicting classifications of pathogenicity
GREB1L-related disorder, GREB1L-related disorder
Health Risk
RS1343579561
Conflicting classifications of pathogenicity
Renal cortical hyperechogenicity, Renal hypodysplasia/aplasia 3, GREB1L-related disorder
Health Risk
RS1353636049
Conflicting classifications of pathogenicity
Renal hypodysplasia/aplasia 3, Mayer-Rokitansky-Kuster-Hauser syndrome, Renal hypodysplasia/aplasia 3
Health Risk
All Variants (70)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555662052 | Health Risk | Pathogenic | Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3 |
| RS1555664772 | Health Risk | Pathogenic | Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3 |
| RS1555665627 | Health Risk | Pathogenic | Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3 |
| RS2034496911 | Health Risk | Pathogenic | — |
| RS2035545895 | Health Risk | Pathogenic | Mayer-Rokitansky-Kuster-Hauser syndrome, Renal hypodysplasia/aplasia 3, Mayer-Rokitansky-Kuster-Hauser syndrome |
| RS2036272504 | Health Risk | Pathogenic | Mayer-Rokitansky-Kuster-Hauser syndrome, Renal hypodysplasia/aplasia 3, Mayer-Rokitansky-Kuster-Hauser syndrome |
| RS2036706405 | Health Risk | Pathogenic | — |
| RS2144522176 | Health Risk | Pathogenic | Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3 |
| RS2145944441 | Health Risk | Pathogenic | Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3 |
| RS2145944530 | Health Risk | Pathogenic | Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3 |
| RS2510948012 | Health Risk | Pathogenic | Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3 |
| RS2511352938 | Health Risk | Pathogenic | — |
| RS2511464204 | Health Risk | Pathogenic | GREB1L-related disorder, GREB1L-related disorder |
| RS2511829096 | Health Risk | Pathogenic | Mayer Rokitansky Kuster Hauser syndrome type 1, Mayer Rokitansky Kuster Hauser syndrome type 1 |
| RS2511917113 | Health Risk | Pathogenic | — |
| RS2512030033 | Health Risk | Pathogenic | Mayer-Rokitansky-Küster-Hauser syndrome type 2, Mayer-Rokitansky-Küster-Hauser syndrome type 2 |
| RS1555659101 | Health Risk | Pathogenic/Likely pathogenic | Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3 |
| RS1555662061 | Health Risk | Pathogenic/Likely pathogenic | Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3 |
| RS2146025908 | Health Risk | Pathogenic/Likely pathogenic | Hearing loss, autosomal dominant 80, Mayer Rokitansky Kuster Hauser syndrome type 1 |
| RS2511740184 | Health Risk | Pathogenic/Likely pathogenic | Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3 |