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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTA1
Single nucleotide variant
(splice donor variant)
SPTA1-related disorder
+1 more
GLikely pathogenic
HBB, LOC106099062
+1 more
(E27K)
Single nucleotide variant
(missense variant)
Malaria, susceptibility to
+16 more
GPathogenic
TTR
(V142I)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+12 more
GPathogenic/Likely pathogenic
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