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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACP6, BCL9
+6 more
Copy number gain
Optic atrophy
+4 more
GPathogenic
ABITRAM, ACTL7A
+4 more
Copy number gain
Profound global developmental delay
+4 more
GUncertain significance
CHD2
(I317V)
Single nucleotide variant
(missense variant)
CNS hypomyelination
+10 more
GLikely benign
GLI2
(G85A)
Single nucleotide variant
(missense variant +1 more)
CNS hypomyelination
+10 more
GLikely benign
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
AP4M1
(R318* +1 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 50
+1 more
GPathogenic
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