| | | Single nucleotide variant (intron variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (intron variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (nonsense) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant +1 more) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (synonymous variant +1 more) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (intron variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | methotrexate response - Toxicity | |
| | | Single nucleotide variant (synonymous variant) | Nonsyndromic genetic hearing loss | |
| | | Microsatellite (inframe_deletion) | Nonsyndromic genetic hearing loss | |
| | | Single nucleotide variant (missense variant) | Nonsyndromic genetic hearing loss | |
| | | Single nucleotide variant (missense variant) | Nonsyndromic genetic hearing loss | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (nonsense) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Duplication (frameshift variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (synonymous variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (intron variant) | RPE65-related recessive retinopathy | |
| | | Insertion (frameshift variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (nonsense) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (synonymous variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (intron variant) | RPE65-related recessive retinopathy | |
| | | Deletion (nonsense) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Duplication (frameshift variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (synonymous variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (splice donor variant) | RPE65-related recessive retinopathy | |
| | | Duplication (inframe_insertion) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (nonsense) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (synonymous variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Deletion (frameshift variant) | RPE65-related recessive retinopathy | |
| | | Duplication (frameshift variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Deletion (splice acceptor variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (nonsense) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (nonsense) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (synonymous variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Deletion (frameshift variant) | RPE65-related recessive retinopathy | |
| | | Duplication (frameshift variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (synonymous variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (splice acceptor variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (intron variant) | RPE65-related recessive retinopathy | |
| | | Duplication (frameshift variant +1 more) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (nonsense) | RPE65-related recessive retinopathy | |
| | | Duplication (frameshift variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (intron variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Deletion (frameshift variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (nonsense) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (intron variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (nonsense) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (synonymous variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | RPE65-related recessive retinopathy | |