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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HAX1
(R126W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HAX1
(S128* +1 more)
Single nucleotide variant
(nonsense)
Kostmann syndrome
GPathogenic