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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFAP47
(F2735L)
Single nucleotide variant
(missense variant)
Spermatogenic failure, X-linked, 3
GUncertain significance
CFAP47
Single nucleotide variant
(missense variant)
Spermatogenic failure, X-linked, 3
GPathogenic
CFAP47
(V2237I)
Single nucleotide variant
(missense variant)
Spermatogenic failure, X-linked, 3
GUncertain significance
CXorf30, CFAP47
(P2890T)
Single nucleotide variant
(missense variant)
Spermatogenic failure, X-linked, 3
GPathogenic
CFAP47
(S1742G)
Single nucleotide variant
(missense variant)
Spermatogenic failure, X-linked, 3
GPathogenic
CXorf30, CFAP47
(I2385N)
Single nucleotide variant
(missense variant)
Spermatogenic failure, X-linked, 3
GPathogenic
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