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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACVR2B
(R383C)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GLikely pathogenic
ACVR2B
(M386L)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 4, autosomal
GUncertain significance