U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 1240

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SYNGAP1, SYNGAP1-AS1
(Q1235* +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Intellectual disability, autosomal dominant 5
GPathogenic
SYNGAP1, SYNGAP1-AS1
(L353P)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
(E495K)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1
(F177fs)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 5
GPathogenic
SYNGAP1
(E238*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 5
GPathogenic
SYNGAP1, SYNGAP1-AS1
(L451P)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GLikely pathogenic
SYNGAP1, SYNGAP1-AS1
(T672fs)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 5
GPathogenic
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(splice acceptor variant)
Intellectual disability, autosomal dominant 5
GPathogenic
SYNGAP1, SYNGAP1-AS1
(N1131fs +1 more)
Insertion
(frameshift variant)
Intellectual disability, autosomal dominant 5
GPathogenic
SYNGAP1, SYNGAP1-AS1
(Y505H)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GLikely pathogenic
SYNGAP1, SYNGAP1-AS1
(Q407fs)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 5
GPathogenic
SYNGAP1, SYNGAP1-AS1
(G341fs)
Indel
(frameshift variant)
Intellectual disability, autosomal dominant 5
+1 more
Gnot provided
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
Indel
(missense variant)
Intellectual disability, autosomal dominant 5
GLikely pathogenic
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
(M834I +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1
(D201E)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GBenign
SYNGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
(P701S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1
(R10Q)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
(V1064D +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1
(R25W)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
(P1285H)
Single nucleotide variant
(synonymous variant +1 more)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
(R356H)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GLikely benign
MIR5004, SYNGAP1
+1 more
(M468V)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(splice acceptor variant)
Intellectual disability, autosomal dominant 5
GLikely pathogenic
SYNGAP1, SYNGAP1-AS1
(T640S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
(S765N)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1
Deletion
(intron variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
(P1327L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
(G1113R +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
(V827M +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
(P298S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GBenign
SYNGAP1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
(D1008G +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1
(M58V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
(R775P)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 5
GBenign
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1
(S176G)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
(R922Q +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 5
GBenign
SYNGAP1, SYNGAP1-AS1
(P1090S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GBenign
MIR5004, SYNGAP1
+1 more
Single nucleotide variant
(intron variant +1 more)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(splice donor variant)
Intellectual disability, autosomal dominant 5
GPathogenic
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
(R870W +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1
(R127Q)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
(R840C +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
(G787S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
(R475Q)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
+1 more
GUncertain significance
SYNGAP1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
(R761Q)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
(R479Q)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
(S449G)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
(R1103C +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
(P773S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
(E739V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1
Single nucleotide variant
(splice donor variant)
Intellectual disability, autosomal dominant 5
GLikely pathogenic
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
(R1019fs +1 more)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 5
GPathogenic
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
(V978fs +1 more)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 5
GPathogenic
SYNGAP1, SYNGAP1-AS1
(P851fs +1 more)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 5
GPathogenic
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 5
GPathogenic
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
(P942L +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
(A1088V +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GBenign
SYNGAP1, SYNGAP1-AS1
(A1341S)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
(G383W)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GUncertain significance
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 5
GLikely benign
SYNGAP1, SYNGAP1-AS1
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 5
GLikely benign
Format
Items per page
Sort by
Choose Destination