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Links from MedGen

Items: 48

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GRIA2
(P336S +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GUncertain significance
GRIA2
Single nucleotide variant
(splice donor variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
Gnot provided
GRIA2
(I755fs +1 more)
Duplication
(frameshift variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GPathogenic
GRIA2
(G509E +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GLikely pathogenic
GRIA2
(F581S +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GLikely pathogenic
GRIA2
(A592G +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GLikely pathogenic
GRIA2
(N683Y +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GLikely pathogenic
GRIA2
(W230* +1 more)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GLikely pathogenic
GRIA2
(V600A +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GPathogenic
GRIA2
(R573H +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GLikely pathogenic
GRIA2
(E540A +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GUncertain significance
GRIA2
(E461V +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GUncertain significance
GRIA2
(A595P +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GUncertain significance
GRIA2
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GUncertain significance
GRIA2
(M5T)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GUncertain significance
GRIA2
(T353I +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GUncertain significance
GRIA2
(A784P +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GUncertain significance
GRIA2
Duplication
(nonsense)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GPathogenic
GRIA2
(Y186* +1 more)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GPathogenic
GRIA2
(V419F +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GUncertain significance
GRIA2
(G745E +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
+1 more
GPathogenic
GRIA2
(A122fs +1 more)
Deletion
(frameshift variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GPathogenic
GRIA2
(A596T +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GPathogenic
GRIA2
(V295A +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GUncertain significance
GRIA2
(K483M +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GLikely pathogenic
GRIA2
(P606fs +1 more)
Indel
(frameshift variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GLikely pathogenic
GRIA2
(R337W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GRIA2
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
+1 more
GBenign/Likely benign
GRIA2
(G705V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRIA2
Deletion
(nonsense)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GPathogenic
GRIA2
(L200V +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GUncertain significance
GRIA2
(A760V +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GLikely pathogenic
GRIA2
(N765S +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GLikely pathogenic
GRIA2
(G47E)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GUncertain significance
GRIA2
(F597L +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GLikely pathogenic
GRIA2
(T599N +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GLikely pathogenic
GRIA2
(Q560E +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GLikely pathogenic
GRIA2
(G745V +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GLikely pathogenic
GRIA2
(W741L +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GLikely pathogenic
GRIA2
(R276* +1 more)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
+1 more
GLikely pathogenic
GRIA2
(K704E +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GLikely pathogenic
GRIA2
(S613L +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GUncertain significance
GRIA2
(V647L +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GPathogenic
GRIA2
(P528T +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GLikely pathogenic
GRIA2
(D302G +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GLikely pathogenic
GRIA2
(G609R +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GLikely pathogenic
GRIA2
(A592S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
GRIA2
(D611N +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GConflicting classifications of pathogenicity
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