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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFAP53
(R471*)
Single nucleotide variant
(nonsense)
Heterotaxy, visceral, 6, autosomal
GUncertain significance
CFAP53
(Q293*)
Single nucleotide variant
(nonsense)
Heterotaxy, visceral, 6, autosomal
GLikely pathogenic
CFAP53
(A185T)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 6, autosomal
+1 more
GUncertain significance
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