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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFAP65
(G144A +2 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 40
GUncertain significance
CFAP65
(P583S +2 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 40
GUncertain significance
CFAP65, LOC100129175
(P1477S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Spermatogenic failure 40
GUncertain significance
CFAP65
(A486T +2 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 40
GUncertain significance
CFAP65
(W892*)
Single nucleotide variant
(nonsense)
Spermatogenic failure 40
GPathogenic
CFAP65
(L462fs +2 more)
Deletion
(frameshift variant)
Spermatogenic failure 40
GPathogenic
CFAP65
(R762*)
Single nucleotide variant
(nonsense)
Spermatogenic failure 40
GPathogenic
CFAP65, LOC100129175
(E1781*)
Single nucleotide variant
(nonsense)
Spermatogenic failure 40
GPathogenic
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