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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PPFIA3
(S903fs)
Duplication
(frameshift variant +1 more)
PPFIA3-related disorder
GLikely pathogenic
PPFIA3
(K759R)
Single nucleotide variant
(missense variant +1 more)
PPFIA3-related disorder
GLikely pathogenic
PPFIA3
(P793T)
Single nucleotide variant
(missense variant +1 more)
PPFIA3-related disorder
GLikely pathogenic
HRC, LOC130064904
+2 more
Deletion
PPFIA3-related disorder
GLikely pathogenic
PPFIA3
(A315S)
Single nucleotide variant
(missense variant +1 more)
PPFIA3-related disorder
GLikely pathogenic
LOC130064903, PPFIA3
Single nucleotide variant
(splice donor variant)
PPFIA3-related disorder
GLikely pathogenic
LOC130064903, PPFIA3
(E40K)
Single nucleotide variant
(missense variant +1 more)
PPFIA3-related disorder
GLikely pathogenic
PPFIA3
(R498W)
Single nucleotide variant
(missense variant +1 more)
PPFIA3-related disorder
GLikely pathogenic
PPFIA3
(R784W)
Single nucleotide variant
(missense variant +1 more)
PPFIA3-related disorder
GPathogenic
PPFIA3
(R429W)
Single nucleotide variant
(missense variant +1 more)
PPFIA3-related disorder
GLikely pathogenic
PPFIA3
(R559W)
Single nucleotide variant
(missense variant +1 more)
PPFIA3-related disorder
GLikely pathogenic
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