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Links from MedGen

Items: 1 to 100 of 898

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IQSEC2
(A697fs +1 more)
Deletion
(frameshift variant)
Intellectual disability, X-linked 1
GLikely pathogenic
IQSEC2
(A1463T)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
(F97L)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
Single nucleotide variant
(intron variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
(A178V)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
Single nucleotide variant
(intron variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
(N125H)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
(R1409Q)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 1
GBenign
IQSEC2
Single nucleotide variant
(intron variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
(G728S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
(R646C +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
(H1419P)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
(Q874R +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
(P334S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
(K894R +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
(R646H +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
(A259V +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
Single nucleotide variant
(intron variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
(P199Q)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GBenign
IQSEC2
(N501S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
(H1239Y)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
(R110H +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
Single nucleotide variant
(synonymous variant +1 more)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
(S511F +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
(G571V +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
(R873P +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
Single nucleotide variant
(intron variant)
Intellectual disability, X-linked 1
GBenign
IQSEC2
(Y323C +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
(N1001S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
(D521N +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
(N920D +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
(S15N)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
(E723* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability, X-linked 1
GPathogenic
IQSEC2
(P180L)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
(I844N +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
(Q847K +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
(H75Y +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
(Q1295L)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
(H742Y +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
(R235fs)
Deletion
(frameshift variant)
Intellectual disability, X-linked 1
GPathogenic
IQSEC2
(T426I +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
(P1379L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GBenign
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
Deletion
(splice acceptor variant)
Intellectual disability, X-linked 1
GLikely pathogenic
IQSEC2
(R80Q)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
Duplication
(splice acceptor variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
Single nucleotide variant
(intron variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
(P461L +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
(I958T +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
(Q950* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability, X-linked 1
GPathogenic
IQSEC2
(I178V +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
(H788Y +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
(S302fs +1 more)
Deletion
(frameshift variant)
Intellectual disability, X-linked 1
GPathogenic
IQSEC2
(A418V +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
(P1223Q)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
(I1389V)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
Single nucleotide variant
(synonymous variant +1 more)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
Single nucleotide variant
(synonymous variant +1 more)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
(A1380T)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
(P76S)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GBenign
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
(P1186R)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
Single nucleotide variant
(intron variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
(S214N)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
Single nucleotide variant
(intron variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
(R542W +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GLikely benign
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GLikely benign
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