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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANK1
(R1833* +3 more)
Single nucleotide variant
(nonsense +1 more)
ANK1-related disorder
+2 more
GPathogenic/Likely pathogenic
ANK1
(W1185R +1 more)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 1
GLikely pathogenic