U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFAP44, LOC127898559
(G435*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Spermatogenic failure 20
GLikely pathogenic
CFAP44, CFAP44-AS1
+1 more
(R224*)
Single nucleotide variant
(nonsense)
Spermatogenic failure 20
GLikely pathogenic
CFAP44, CFAP44-AS1
+1 more
(S106P)
Single nucleotide variant
(missense variant)
Spermatogenic failure 20
GUncertain significance
CFAP44, LOC127898559
(E940fs)
Duplication
(frameshift variant)
Spermatogenic failure 20
GPathogenic
CFAP44, LOC127898559
(R1059*)
Single nucleotide variant
(nonsense)
Spermatogenic failure 20
GPathogenic
CFAP44, LOC127898559
(E463*)
Single nucleotide variant
(nonsense)
Spermatogenic failure 20
GPathogenic
CFAP44, LOC127898559
(L590Q)
Single nucleotide variant
(missense variant)
Spermatogenic failure 20
GPathogenic
CFAP44, LOC127898559
Deletion
Spermatogenic failure 20
GPathogenic
CFAP44, LOC127898559
(M669fs)
Deletion
(frameshift variant)
Spermatogenic failure 20
GPathogenic
Format
Items per page
Sort by
Choose Destination