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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFAP43
(V310A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
CFAP43
(V347A)
Single nucleotide variant
(missense variant)
Spermatogenic failure 19
GPathogenic
CFAP43
(L435fs)
Duplication
(frameshift variant)
Spermatogenic failure 19
GPathogenic
CFAP43
(R1118*)
Single nucleotide variant
(nonsense)
Spermatogenic failure 19
GPathogenic
CFAP43
(V414fs)
Microsatellite
(frameshift variant)
Spermatogenic failure 19
GPathogenic
CFAP43
Single nucleotide variant
(splice acceptor variant)
Spermatogenic failure 19
GPathogenic
CFAP43
Deletion
(splice acceptor variant)
Spermatogenic failure 19
GPathogenic
CFAP43
Deletion
(splice acceptor variant +1 more)
Spermatogenic failure 19
GPathogenic
CFAP43
(R85W)
Single nucleotide variant
(missense variant)
Spermatogenic failure 19
GPathogenic
CFAP43
(S129Y)
Single nucleotide variant
(missense variant)
Spermatogenic failure 19
GPathogenic
CFAP43
(R1378*)
Single nucleotide variant
(nonsense)
Spermatogenic failure 19
GPathogenic
CFAP43
(C934*)
Single nucleotide variant
(nonsense)
Spermatogenic failure 19
GPathogenic
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