NM_004958.4(MTOR):c.4468T>C (p.Trp1490Arg)Likely pathogenic
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
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โ2025โ Residue 1490
NM_004958.4(MTOR):c.5005G>T (p.Ala1669Ser)Likely pathogenic
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
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โ2025โ Residue 1669
NM_004958.4(MTOR):c.5930C>G (p.Thr1977Arg)Pathogenic
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
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โ2022โ Residue 1977
NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr)Pathogenic
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes|CEBALID syndrome|not provided|Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
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โ2022โ Residue 1483
NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr)Pathogenic
Isolated focal cortical dysplasia type II|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes|Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
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โ2022โ Residue 2215
NM_004958.4(MTOR):c.7280T>C (p.Leu2427Pro)Pathogenic
Isolated focal cortical dysplasia type II|CEBALID syndrome|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
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โ2022โ Residue 2427
NM_004958.4(MTOR):c.5930C>A (p.Thr1977Lys)Pathogenic
not provided|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes|Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome|Isolated focal cortical dysplasia type II
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โ2022โ Residue 1977
NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)Pathogenic
not provided|Isolated focal cortical dysplasia type II|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
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โ2022โ Residue 2215
NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg)Pathogenic
Hemimegalencephaly|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
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โ2022โ Residue 1483
NM_004958.4(MTOR):c.4379T>C (p.Leu1460Pro)Pathogenic
Isolated focal cortical dysplasia type II|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
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โ2022โ Residue 1460
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys)Pathogenic
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome|not provided|Inborn genetic diseases|Severe intellectual disability|CEBALID syndrome|Rare genetic intellectual disability|Isolated focal cortical dysplasia type II|Intellectual disability|Isolated focal cortical dysplasia type II;Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
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โโ2026โ Residue 1799
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys)Pathogenic
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome|not provided
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โโ2025โ Residue 1888
NM_004958.4(MTOR):c.7216G>A (p.Val2406Met)Pathogenic
Macrocephaly|not provided|Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
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โโ2024โ Residue 2406
NM_004958.4(MTOR):c.5930C>T (p.Thr1977Ile)Pathogenic
MTOR-related megalencephaly and pigmentary mosaicism in skin|Isolated focal cortical dysplasia type II|CEBALID syndrome|not provided|MTOR-related disorder|Isolated focal cortical dysplasia type II;Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
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โโ2024โ Residue 1977
NM_004958.4(MTOR):c.7255G>A (p.Glu2419Lys)Pathogenic
not provided|CEBALID syndrome|Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes|Inborn genetic diseases
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โโ2024โ Residue 2419
NM_004958.4(MTOR):c.5662T>C (p.Phe1888Leu)Likely pathogenic
Overgrowth syndrome|Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome|Neoplasm
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โโ2024โ Residue 1888
NM_004958.4(MTOR):c.6981G>A (p.Met2327Ile)Pathogenic
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome|not provided
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โโ2023โ Residue 2327
NM_004958.4(MTOR):c.7238G>T (p.Ser2413Ile)Pathogenic
Inborn genetic diseases|CEBALID syndrome|Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
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โโ2023โ Residue 2413
NM_004958.4(MTOR):c.5380G>A (p.Ala1794Thr)Likely pathogenic
not provided
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โโโ2025โ Residue 1794
NM_004958.4(MTOR):c.6306C>A (p.Asp2102Glu)Likely pathogenic
MTOR-related disorder
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โโโ2025โ Residue 2102