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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GRIA1
(C25F +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder, autosomal dominant 67
GBenign
GRIA1
Single nucleotide variant
(synonymous variant +1 more)
Intellectual developmental disorder, autosomal dominant 67
GUncertain significance
GRIA1
(P114L +4 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual developmental disorder, autosomal dominant 67
GUncertain significance
GRIA1
(S777T +6 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder, autosomal dominant 67
GLikely pathogenic
GRIA1
(G418E +6 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder, autosomal dominant 67
GLikely pathogenic
GRIA1
(P53S +2 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual developmental disorder, autosomal dominant 67
GUncertain significance
GRIA1
(G745D +6 more)
Single nucleotide variant
(missense variant +1 more)
Autism spectrum disorder
+1 more
GPathogenic/Likely pathogenic
GRIA1
(A636T +6 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder, autosomal dominant 67
+1 more
GPathogenic/Likely pathogenic
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