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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
XIAP
(R49Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
XIAP
(G188R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
XIAP
(R221S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
XIAP
(K299fs)
Microsatellite
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
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