U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADCY5
(R418Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
CYFIP2
(R608* +2 more)
Single nucleotide variant
(nonsense)
Neurodevelopmental delay
GUncertain significance
KCNT1
(R783C +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+2 more
GUncertain significance
ARF3
(D93N)
Single nucleotide variant
(missense variant)
Neurodevelopmental delay
+17 more
GPathogenic/Likely pathogenic
MVP-DT, PRRT2
(R217fs)
Duplication
(frameshift variant)
Episodic kinesigenic dyskinesia
+14 more
GPathogenic/Likely pathogenic
MECP2
(R306C +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GPathogenic
Format
Items per page
Sort by
Choose Destination