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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANK1, LOC130000286
(T790M +1 more)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 1
GUncertain significance
ANK1, LOC130000286
(A774fs +1 more)
Deletion
(frameshift variant)
Hereditary spherocytosis type 1
GLikely pathogenic