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Links from MedGen

Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GRIA4, LOC126861324
(C153R)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
GUncertain significance
GRIA4
(T420N)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
GUncertain significance
GRIA4
(W179*)
Single nucleotide variant
(nonsense +1 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
GLikely pathogenic
GRIA4
(R278L)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
GUncertain significance
GRIA4
(I522V)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
GUncertain significance
GRIA4
(R697Q)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
GPathogenic
GRIA4
(G388R)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
GUncertain significance
GRIA4
(T311fs)
Deletion
(frameshift variant +1 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
GUncertain significance
GRIA4
(H883Y)
Single nucleotide variant
(3 prime UTR variant +2 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
GUncertain significance
GRIA4
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with or without seizures and gait abnormalities
GUncertain significance
GRIA4
(T665R)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
GUncertain significance
GRIA4, LOC126861324
(Q129E)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
GUncertain significance
GRIA4
(V867E)
Single nucleotide variant
(missense variant +2 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
GUncertain significance
GRIA4
(A662V)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
GUncertain significance
GRIA4
(M171T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
GRIA4
(A74V)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
GUncertain significance
GRIA4
(V307M)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
GUncertain significance
GRIA4
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with or without seizures and gait abnormalities
GUncertain significance
GRIA4
(C878F)
Single nucleotide variant
(missense variant +2 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
GUncertain significance
GRIA4
(A640S)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
GPathogenic
GRIA4
(E413Q)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
GUncertain significance
GRIA4
(R35Q)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
+1 more
GUncertain significance
GRIA4
(E679G)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
GUncertain significance
GRIA4
(F122V)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
GUncertain significance
GRIA4
(F92L)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
+1 more
GUncertain significance
GRIA4, LOC129390350
(P24S)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
GUncertain significance
GRIA4
(R872H)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
GRIA4
(R697P)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
GLikely pathogenic
GRIA4
(A644V)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
+1 more
GPathogenic/Likely pathogenic
GRIA4
(A643G)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability
+1 more
GPathogenic/Likely pathogenic
GRIA4
(N641D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely pathogenic
GRIA4
(T639S)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
+1 more
GPathogenic/Likely pathogenic
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