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Links from MedGen

Items: 59

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GRIA3
(L458P)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GLikely pathogenic
GRIA3
(S391fs)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability 94
GLikely pathogenic
GRIA3
(V456A)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GUncertain significance
GRIA3
(E294*)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability 94
GUncertain significance
GRIA3
(D210H)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GUncertain significance
GRIA3
(E787K)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability 94
GPathogenic
GRIA3
(Y800C)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability 94
GUncertain significance
GRIA3
(E179G)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GUncertain significance
GRIA3
(A650V)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GLikely pathogenic
GRIA3
(S95L)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GLikely benign
GRIA3
(G103*)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability 94
GLikely pathogenic
GRIA3
(S527R)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GUncertain significance
GRIA3
(I511V)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GUncertain significance
GRIA3
(M261I)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GUncertain significance
GRIA3
(V658A)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GLikely pathogenic
GRIA3
(A653S)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GPathogenic
GRIA3
(V560A)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GUncertain significance
GRIA3
(R724Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GRIA3
(R515H)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GLikely pathogenic
GRIA3
(E421Q)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GUncertain significance
GRIA3
(I317V)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GUncertain significance
GRIA3
(P485fs)
Duplication
(frameshift variant)
Syndromic X-linked intellectual disability 94
GPathogenic
GRIA3
(R394*)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability 94
+1 more
GPathogenic/Likely pathogenic
GRIA3
(R142C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GRIA3
(A615V)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GPathogenic
GRIA3
(R203S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRIA3
(G680C)
Indel
(missense variant)
Syndromic X-linked intellectual disability 94
GPathogenic
GRIA3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
GRIA3
(F129fs)
Duplication
(frameshift variant)
Syndromic X-linked intellectual disability 94
GBenign
GRIA3
(E276Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GRIA3
(G139S)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability 94
GUncertain significance
GRIA3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GRIA3
(E403D)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GUncertain significance
GRIA3
(E700K)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
+1 more
GConflicting classifications of pathogenicity
GRIA3
(Q271R)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GUncertain significance
GRIA3
(R450*)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability 94
+2 more
GConflicting classifications of pathogenicity
GRIA3
(A129fs)
Duplication
(frameshift variant +1 more)
Syndromic X-linked intellectual disability 94
GBenign
GRIA3
(G730A)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GUncertain significance
GRIA3
(Q271H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GRIA3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
GRIA3
(G803E)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder
+1 more
GConflicting classifications of pathogenicity
GRIA3
(M706L)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GUncertain significance
GRIA3
(T816I)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GUncertain significance
GRIA3
(F655S)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GPathogenic
GRIA3
(A176V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GRIA3
(A653T)
Single nucleotide variant
(missense variant)
Disrupted sleep-wake cycle with developmental delay and learning difficulty
+3 more
GConflicting classifications of pathogenicity
GRIA3
(G194R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GRIA3
(Y156H)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
+1 more
GConflicting classifications of pathogenicity
GRIA3
(G128fs)
Duplication
(frameshift variant +1 more)
not specified
GBenign
GRIA3
(R394Q)
Single nucleotide variant
(missense variant)
GRIA3-related disorder
+4 more
GBenign/Likely benign
GRIA3
(R216*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
GRIA3
Duplication
(5 prime UTR variant)
Inborn genetic diseases
+3 more
GBenign
GRIA3
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign
GRIA3
(G630R)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GPathogenic
GRIA3
(S567R)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
+1 more
GUncertain significance
GRIA3, LOC113875007
+1 more
Deletion
Syndromic X-linked intellectual disability 94
GPathogenic
GRIA3
(M706T)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GPathogenic
GRIA3
(R631S)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GPathogenic
GRIA3
(G833R)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GPathogenic
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