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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
XIAP
(G204fs)
Duplication
(frameshift variant)
X-linked lymphoproliferative disease due to XIAP deficiency
GPathogenic
XIAP
(A321G)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign/Likely benign
XIAP
(R381*)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic
XIAP
(Q423P)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign
XIAP
(V487fs)
Deletion
(frameshift variant +1 more)
X-linked lymphoproliferative disease due to XIAP deficiency
GPathogenic
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