| | LOC105372173, LOC105372179 +1646 more | Copy number gain | See cases | |
| | LOC105372069, LOC105372071 +1643 more | Copy number gain | See cases | |
| | LOC121852961, LOC121852962 +1643 more | Copy number gain | See cases | |
| | LOC130062369, LOC130062370 +1643 more | Copy number gain | See cases | |
| | LOC130062321, LOC130062322 +1643 more | Copy number gain | See cases | |
| | LOC130062687, LOC130062688 +1642 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062768, LOC130062769 +1642 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062386, LOC130062387 +378 more | Copy number gain | See cases | |
| | LINC01900, LINC01908 +282 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062608, LOC130062609 +1266 more | Copy number gain | See cases | |
| | LOC130062514, LOC130062515 +1089 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | GREB1L-related condition | |
| | GREB1L, LOC101927521 (Y5C) | Single nucleotide variant (missense variant) | not provided | |
| | GREB1L, LOC101927521 (G7E) | Single nucleotide variant (missense variant) | not provided | |
| | GREB1L, LOC101927521 (Q8P) | Single nucleotide variant (missense variant) | Male infertility with azoospermia or oligozoospermia due to single gene mutation | |
| | GREB1L, LOC101927521 (R13*) | Single nucleotide variant (nonsense) | Renal agenesis and hypodysplasia | |
| | GREB1L, LOC101927521 (S25F) | Single nucleotide variant (missense variant) | not provided | |
| | GREB1L, LOC101927521 (V31G) | Single nucleotide variant (missense variant) | not provided | |
| | GREB1L, LOC101927521 (V32I) | Single nucleotide variant (missense variant) | not provided | |
| | GREB1L, LOC101927521 (P33A) | Single nucleotide variant (missense variant) | not provided | |
| | GREB1L, LOC101927521 (F37L) | Single nucleotide variant (missense variant) | Short stature | |
| | GREB1L, LOC101927521 (D53N) | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (splice donor variant) | Renal hypodysplasia/aplasia 3 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | GREB1L, LOC101927521 (P56T) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | GREB1L, LOC101927521 (R68L) | Single nucleotide variant (missense variant) | GREB1L-related condition +1 more | |
| | GREB1L, LOC101927521 (R68H) | Single nucleotide variant (missense variant) | not provided | |
| | GREB1L, LOC101927521 (D76N) | Single nucleotide variant (missense variant) | not provided | |
| | GREB1L, LOC101927521 (E93K) | Single nucleotide variant (missense variant) | GREB1L-related condition +3 more | GConflicting classifications of pathogenicity |
| | GREB1L, LOC101927521 (P104L) | Single nucleotide variant (missense variant) | Male infertility with azoospermia or oligozoospermia due to single gene mutation | |
| | GREB1L, LOC101927521 (T116I) | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss | |
| | GREB1L, LOC101927521 (K125R) | Single nucleotide variant (missense variant) | not provided | |
| | GREB1L, LOC101927521 (R128H) | Single nucleotide variant (missense variant) | Renal agenesis and hypodysplasia | |
| | GREB1L, LOC101927521 (I137L) | Single nucleotide variant (missense variant) | not provided | |
| | GREB1L, LOC101927521 (N152S) | Single nucleotide variant (missense variant) | not provided | |
| | GREB1L, LOC101927521 (D170E) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | GREB1L-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC101927521, GREB1L (G185S) | Single nucleotide variant (missense variant) | Mayer-Rokitansky-Küster-Hauser syndrome type 2 | |
| | GREB1L, LOC101927521 (R189K) | Single nucleotide variant (missense variant) | not provided | |
| | GREB1L, LOC101927521 (F191fs) | Duplication (frameshift variant) | Renal hypodysplasia/aplasia 3 | |
| | GREB1L, LOC101927521 (R192Q) | Single nucleotide variant (missense variant) | Rokitansky sequence | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GREB1L, LOC101927521 (S228F) | Single nucleotide variant (missense variant) | Hearing loss, autosomal dominant 80 | |
| | GREB1L, LOC101927521 (W235C) | Single nucleotide variant (missense variant) | Renal hypodysplasia/aplasia 3 | |
| | GREB1L, LOC101927521 (R241Q) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | GREB1L-related condition | |
| | GREB1L, LOC101927521 (G273V) | Single nucleotide variant (missense variant) | Renal agenesis and hypodysplasia | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | GREB1L, LOC101927521 (D278V +1 more) | Single nucleotide variant (missense variant) | Renal hypodysplasia/aplasia 3 | |
| | GREB1L, LOC101927521 (N283S) | Single nucleotide variant (missense variant) | Profound hearing impairment | |
| | GREB1L, LOC101927521 (A292V +1 more) | Single nucleotide variant (missense variant) | GREB1L-related condition | |
| | GREB1L, LOC101927521 (G344R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | GREB1L, LOC101927521 (P307L +1 more) | Single nucleotide variant (missense variant) | GREB1L-related condition | |
| | | Duplication (intron variant) | not provided | |
| | GREB1L, LOC101927521 (I364N +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC101927521, GREB1L (G323E +1 more) | Single nucleotide variant (missense variant) | Renal hypodysplasia/aplasia 3 | |
| | GREB1L, LOC101927521 (P325L +1 more) | Single nucleotide variant (missense variant) | GREB1L-related condition | |
| | GREB1L, LOC101927521 (R328*) | Single nucleotide variant (nonsense) | Inner ear malformation +1 more | |
| | GREB1L, LOC101927521 (R328Q) | Single nucleotide variant (missense variant) | Renal hypodysplasia/aplasia 3 | |
| | LOC101927521, GREB1L (R330W) | Single nucleotide variant (missense variant) | not provided | |
| | GREB1L, LOC101927521 (Q340fs +1 more) | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GREB1L, LOC101927521 (P368R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | GREB1L, LOC101927521 (P375R) | Single nucleotide variant (missense variant) | not provided | |
| | GREB1L, LOC101927521 (T383fs +1 more) | Deletion (frameshift variant) | Renal hypodysplasia/aplasia 3 | |
| | GREB1L, LOC101927521 (L391V +1 more) | Single nucleotide variant (missense variant) | GREB1L-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | GREB1L-related condition | |
| | GREB1L, LOC101927521 (L465P +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | GREB1L, LOC101927521 (C426W +1 more) | Single nucleotide variant (missense variant) | GREB1L-related condition | |
| | GREB1L, LOC101927521 (K471R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | GREB1L, LOC101927521 (G441A +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | GREB1L, LOC101927521 (G444S) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | GREB1L, LOC101927521 (V450M +1 more) | Single nucleotide variant (missense variant) | GREB1L-related condition | |
| | LOC101927521, GREB1L (T457M +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | GREB1L, LOC101927521 (R463Q +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | GREB1L, LOC101927521 (E476K +1 more) | Single nucleotide variant (missense variant) | Hearing loss, autosomal dominant 80 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GREB1L, LOC101927521 (A492P +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | GREB1L, LOC101927521 (A497G) | Single nucleotide variant (missense variant) | Renal agenesis and hypodysplasia | |
| | GREB1L, LOC101927521 (V502A +1 more) | Single nucleotide variant (missense variant +1 more) | GREB1L-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GREB1L, LOC101927521 (V517I +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | GREB1L, LOC101927521 (D520N +1 more) | Single nucleotide variant (missense variant) | Mayer-Rokitansky-Küster-Hauser syndrome type 2 | |
| | GREB1L, LOC101927521 (V567M +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | GREB1L, LOC101927521 (Q528fs) | Deletion (frameshift variant) | Renal hypodysplasia/aplasia 3 | |