NM_002397.5(MEF2C):c.44G>A (p.Arg15His)Pathogenic
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language|not provided|Inborn genetic diseases|Seizure
β
β
ββ2026β Residue 15
NM_002397.5(MEF2C):c.79G>A (p.Gly27Arg)Pathogenic
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language|not provided
β
β
ββ2025β Residue 27
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys)Pathogenic
not provided|Autism spectrum disorder|Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
β
β
ββ2025β Residue 15
NM_002397.5(MEF2C):c.638-1G>APathogenic
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language|not provided
β
β
ββ2025
NM_002397.5(MEF2C):c.403-1G>TPathogenic
Autism spectrum disorder|not provided
β
β
ββ2025
NM_002397.5(MEF2C):c.51_54del (p.Arg17_Gln18insTer)Pathogenic
not provided|MEF2C-related disorder|Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
β
β
ββ2025β Residue 17
NM_002397.5(MEF2C):c.-8C>TPathogenic
not provided|Neurodevelopmental disorder|Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
β
β
ββ2025
NM_002397.5(MEF2C):c.44G>C (p.Arg15Pro)Pathogenic
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language|not provided
β
β
ββ2024β Residue 15
NM_002397.5(MEF2C):c.833del (p.Leu277_Leu278insTer)Pathogenic
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language|not provided|Inborn genetic diseases
β
β
ββ2024β Residue 277
NM_002397.5(MEF2C):c.14del (p.Lys5fs)Pathogenic
not provided
β
β
ββ2024β Residue 5
NM_002397.5(MEF2C):c.45dup (p.Asn16Ter)Pathogenic
not provided|Neurodevelopmental disorder|Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
β
β
ββ2023β Residue 16
NM_002397.5(MEF2C):c.638-2A>GPathogenic
not provided
β
β
ββ2023
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter)Pathogenic
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language|not provided|Inborn genetic diseases|MEF2C-related disorder
β
β
ββ2023β Residue 189
NM_002397.5(MEF2C):c.2T>C (p.Met1Thr)Pathogenic
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language|not provided
β
β
ββ2023β Residue 1
NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter)Pathogenic
Autism spectrum disorder|Intellectual disability|5q14.3 microdeletion syndrome|Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
β
β
ββ2023β Residue 256
NM_002397.5(MEF2C):c.-26C>TPathogenic
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language|not provided|Inborn genetic diseases
β
β
ββ2023
NM_002397.5(MEF2C):c.104T>C (p.Leu35Pro)Pathogenic
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
β
β
ββ2022β Residue 35
NM_002397.5(MEF2C):c.401_402+2delPathogenic
Inborn genetic diseases|Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
β
β
ββ2022
NM_002397.5(MEF2C):c.113T>C (p.Leu38Pro)Pathogenic
Inborn genetic diseases|Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
β
β
ββ2022β Residue 38
NM_002397.5(MEF2C):c.638-2A>CPathogenic
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language|Inborn genetic diseases
β
β
ββ2021