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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GRM7
(V254L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
GUncertain significance
GRM7
(Y416C)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
GUncertain significance
GRM7
(S832R)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
GLikely pathogenic
GRM7
(R659*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
GPathogenic
GRM7
(E891K)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
GPathogenic
GRM7
(R658Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GRM7
(W586*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
GPathogenic
GRM7
(T675K)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
+6 more
GPathogenic/Likely pathogenic
GRM7
(R658W)
Single nucleotide variant
(missense variant)
Hypotonia
+6 more
GPathogenic/Likely pathogenic
GRM7
(I154T)
Single nucleotide variant
(missense variant)
Hypotonia
+5 more
GPathogenic/Likely pathogenic
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