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Links from Gene

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PPFIA3
(Q629*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
PPFIA3
(R830C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PPFIA3
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
PPFIA3
Single nucleotide variant
(intron variant)
PPFIA3-associated neurodevelopmental disorder
GUncertain significance
LOC130064903, PPFIA3
(Q71H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PPFIA3
(Q729fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
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
LOC130064903, PPFIA3
(Q80P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC130064903, PPFIA3
(R39C)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
LOC130064904, PPFIA3
(P1165A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC130064903, PPFIA3
(L43Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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