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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFAP52
(R115* +1 more)
Single nucleotide variant
(nonsense)
Heterotaxy, visceral, 10, autosomal, with male infertility
GLikely pathogenic
CFAP52
(G271R +1 more)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 10, autosomal, with male infertility
GPathogenic
CFAP52
Deletion
Heterotaxy, visceral, 10, autosomal, with male infertility
GPathogenic
CFAP52
(G367fs +1 more)
Deletion
(frameshift variant)
Heterotaxy, visceral, 10, autosomal, with male infertility
+2 more
GConflicting classifications of pathogenicity
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