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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGFBR1
(G137R +2 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 1
GLikely pathogenic
TGFBR1
(R255G +2 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 1
GUncertain significance