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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB7
(E433K +4 more)
Single nucleotide variant
(missense variant)
X-linked sideroblastic anemia with ataxia
GPathogenic
ABCB7
(V411L +4 more)
Single nucleotide variant
(missense variant)
X-linked sideroblastic anemia with ataxia
GPathogenic
ABCB7
(I400M +3 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ABCB7
(E209D +4 more)
Single nucleotide variant
(missense variant)
X-linked sideroblastic anemia with ataxia
Gnot provided
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