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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYT1L
(Q1065L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARF3
(D93N)
Single nucleotide variant
(missense variant)
Neurodevelopmental delay
+17 more
GPathogenic/Likely pathogenic
MAPK8IP3
(A462G +2 more)
Single nucleotide variant
(missense variant)
Autism
GUncertain significance
SETD1A
(R217H)
Single nucleotide variant
(missense variant)
Autism
GUncertain significance
EEF1A2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 33
+3 more
GUncertain significance
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