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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
THBD
(G502R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
THBD
(D486Y)
Single nucleotide variant
(missense variant)
Kidney disorder
+4 more
GBenign
THBD
(E253K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THBD
(A43T)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
+4 more
GConflicting classifications of pathogenicity
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