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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
THBD
(P495S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
THBD
(A255P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
THBD
(D126Y)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
GUncertain significance
THBD
(A43T)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
+3 more
GConflicting classifications of pathogenicity
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