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Items: 51

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCCA
(M1fs)
Duplication
(frameshift variant +3 more)
Propionic acidemia
GConflicting classifications of pathogenicity
PCCA
(M1T)
Single nucleotide variant
(missense variant +3 more)
not specified
+1 more
GUncertain significance
PCCA
(W5*)
Single nucleotide variant
(nonsense +2 more)
Propionic acidemia
GUncertain significance
PCCA
(Q23fs)
Deletion
(frameshift variant +2 more)
Propionic acidemia
GPathogenic/Likely pathogenic
PCCA
Microsatellite
(splice donor variant +1 more)
Propionic acidemia
GConflicting classifications of pathogenicity
PCCA
Single nucleotide variant
(splice donor variant +1 more)
Propionic acidemia
GLikely pathogenic
PCCA
(A75P +1 more)
Single nucleotide variant
(missense variant +2 more)
Propionic acidemia
+2 more
GUncertain significance
PCCA
(R77W +1 more)
Single nucleotide variant
(missense variant +2 more)
Propionic acidemia
GPathogenic/Likely pathogenic
PCCA
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GConflicting classifications of pathogenicity
PCCA
Deletion
(nonsense +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
PCCA
Single nucleotide variant
(splice donor variant)
Propionic acidemia
GPathogenic
PCCA
(E204del +1 more)
Microsatellite
(inframe_deletion +2 more)
Propionic acidemia
+1 more
GUncertain significance
PCCA
(A220D +1 more)
Single nucleotide variant
(missense variant +2 more)
Propionic acidemia
GConflicting classifications of pathogenicity
PCCA
(G215fs +1 more)
Deletion
(frameshift variant +2 more)
Propionic acidemia
GPathogenic/Likely pathogenic
PCCA
(L233fs +1 more)
Deletion
(frameshift variant +2 more)
Propionic acidemia
+1 more
GPathogenic/Likely pathogenic
PCCA
(E261G +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GConflicting classifications of pathogenicity
PCCA
(R268C +1 more)
Single nucleotide variant
(missense variant +2 more)
Propionic acidemia
+2 more
GConflicting classifications of pathogenicity
PCCA
(N255fs +1 more)
Deletion
(frameshift variant +2 more)
Propionic acidemia
GPathogenic/Likely pathogenic
PCCA
(K298R +1 more)
Single nucleotide variant
(missense variant +2 more)
Propionic acidemia
+1 more
GPathogenic/Likely pathogenic
PCCA
Single nucleotide variant
(splice acceptor variant)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
PCCA
(L308fs +1 more)
Duplication
(frameshift variant +2 more)
Propionic acidemia
GPathogenic
PCCA
(R313* +1 more)
Single nucleotide variant
(nonsense +2 more)
Propionic acidemia
+1 more
GPathogenic
PCCA
(E357D +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PCCA
(D368H +2 more)
Single nucleotide variant
(missense variant +2 more)
Propionic acidemia
GUncertain significance
PCCA
(E371fs +2 more)
Deletion
(frameshift variant +2 more)
Propionic acidemia
GPathogenic
PCCA
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PCCA
(P423L +5 more)
Single nucleotide variant
(missense variant +1 more)
Propionic acidemia
GPathogenic/Likely pathogenic
PCCA
Single nucleotide variant
(splice donor variant)
Propionic acidemia
+1 more
GPathogenic/Likely pathogenic
PCCA
(R476* +5 more)
Single nucleotide variant
(nonsense +1 more)
Propionic acidemia
GPathogenic/Likely pathogenic
PCCA
Single nucleotide variant
(splice donor variant)
Propionic acidemia
GPathogenic/Likely pathogenic
PCCA
Single nucleotide variant
(splice donor variant)
Propionic acidemia
GLikely pathogenic
PCCA
(L532del +5 more)
Deletion
(inframe_deletion +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PCCA
Duplication
(splice donor variant)
Propionic acidemia
GConflicting classifications of pathogenicity
PCCA
Single nucleotide variant
(synonymous variant +1 more)
Propionic acidemia
GConflicting classifications of pathogenicity
PCCA
Single nucleotide variant
(splice acceptor variant)
Propionic acidemia
GPathogenic/Likely pathogenic
PCCA
(W596* +5 more)
Single nucleotide variant
(nonsense +1 more)
Propionic acidemia
+1 more
GPathogenic/Likely pathogenic
PCCA
Single nucleotide variant
(splice acceptor variant +1 more)
Propionic acidemia
GLikely pathogenic
PCCA
(R619* +5 more)
Single nucleotide variant
(nonsense +2 more)
Propionic acidemia
GPathogenic/Likely pathogenic
PCCA
(G631R +5 more)
Single nucleotide variant
(missense variant +2 more)
Propionic acidemia
GLikely pathogenic
PCCA
(M666K +7 more)
Single nucleotide variant
(missense variant +2 more)
Propionic acidemia
+1 more
GConflicting classifications of pathogenicity
PCCA
(G668R +7 more)
Single nucleotide variant
(missense variant +2 more)
Propionic acidemia
+1 more
GPathogenic/Likely pathogenic
PCCA
(K313fs +7 more)
Deletion
(frameshift variant +2 more)
Propionic acidemia
GPathogenic/Likely pathogenic
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GConflicting classifications of pathogenicity
PCCA
Single nucleotide variant
(splice donor variant +1 more)
Propionic acidemia
GLikely pathogenic
PCCA
Microsatellite
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(splice acceptor variant)
Propionic acidemia
GPathogenic/Likely pathogenic
PCCA
(E686* +9 more)
Single nucleotide variant
(nonsense +1 more)
Propionic acidemia
GPathogenic/Likely pathogenic
PCCA
(T371fs +9 more)
Deletion
(frameshift variant +1 more)
Propionic acidemia
GPathogenic/Likely pathogenic
PCCA
(C712del +9 more)
Deletion
(inframe_deletion +1 more)
Propionic acidemia
GUncertain significance
PCCA
(D359fs +9 more)
Insertion
(frameshift variant +1 more)
Propionic acidemia
GConflicting classifications of pathogenicity
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