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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFAP45
(Q491fs)
Indel
(frameshift variant)
Heterotaxy, visceral, 11, autosomal, with male infertility
GPathogenic
CFAP45
(Q151fs)
Deletion
(frameshift variant)
Heterotaxy, visceral, 11, autosomal, with male infertility
GPathogenic
CFAP45
(R303*)
Single nucleotide variant
(nonsense)
Heterotaxy, visceral, 11, autosomal, with male infertility
GPathogenic
CFAP45
(Q241*)
Single nucleotide variant
(nonsense)
Heterotaxy, visceral, 11, autosomal, with male infertility
GPathogenic
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