U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SYNGAP1
(S211fs)
Duplication
(frameshift variant)
Intellectual disability, autosomal dominant 5
GLikely pathogenic
SYNGAP1-AS1, SYNGAP1
(R272Q)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
Format
Sort by
Choose Destination