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Links from MedGen

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GRIN1
(V635G +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
+2 more
GPathogenic
GRIN1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 8
+2 more
GBenign
GRIN1
(G466D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRIN1
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
GUncertain significance
GRIN1
Single nucleotide variant
(synonymous variant)
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
GUncertain significance
GRIN1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 101
+2 more
GConflicting classifications of pathogenicity
GRIN1
(Y245F +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 8
+3 more
GUncertain significance
GRIN1
(A349S +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
GRIN1
(R844C +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 8
+4 more
GPathogenic/Likely pathogenic
GRIN1
(A637V +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
+2 more
GConflicting classifications of pathogenicity
GRIN1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 101
+3 more
GBenign/Likely benign
GRIN1
(D227H +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 8
+1 more
GLikely pathogenic
GRIN1
Single nucleotide variant
(synonymous variant)
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
+3 more
GBenign
GRIN1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign
GRIN1
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
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