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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CASP10
(R21H)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
+2 more
GUncertain significance
CASP10
(R104Q)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
+1 more
GUncertain significance
CASP10
(E129D)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
+1 more
GUncertain significance
CASP10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
CASP10
(C334fs +2 more)
Deletion
(frameshift variant +1 more)
Autoimmune lymphoproliferative syndrome type 2A
+2 more
GConflicting classifications of pathogenicity
CASP10
(T375I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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