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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFAP251, LOC124849266
Deletion
(splice acceptor variant +1 more)
Spermatogenic failure 33
+1 more
GPathogenic
CFAP251
(D42fs)
Deletion
(frameshift variant)
Spermatogenic failure 33
+2 more
GPathogenic
CFAP251
(E111*)
Single nucleotide variant
(nonsense)
Spermatogenic failure 33
+2 more
GPathogenic
CFAP251
(L530fs)
Deletion
(frameshift variant)
multiple morphologic abnormalities of the sperm flagellum
+3 more
GPathogenic
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