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Items: 4

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)
Hb SS disease
+15 more
GPathogenic
HBB, LOC106099062
+1 more
(E7V)
Single nucleotide variant
(missense variant)
HBB-related disorder
+15 more
GPathogenic
TTR
(V142I)
Single nucleotide variant
(missense variant)
ATTRV122I amyloidosis
+12 more
GPathogenic
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