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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IQSEC2
(R872S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 1
GBenign
IQSEC2
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked 1
GConflicting classifications of pathogenicity
IQSEC2
(A665V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IQSEC2
Duplication
(intron variant)
Intellectual disability, X-linked 1
+1 more
GBenign/Likely benign
IQSEC2
(L319fs +1 more)
Deletion
(frameshift variant)
Intellectual disability, X-linked 1
GLikely pathogenic
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