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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGFB3
(E399*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GLikely pathogenic
TGFB3
(K397R)
Single nucleotide variant
(missense variant)
Rienhoff syndrome
GUncertain significance