U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCCB
(R113*)
Single nucleotide variant
(nonsense)
Propionic acidemia
+2 more
GPathogenic
PCCB
(T150M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
PCCB
(P228A +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GConflicting classifications of pathogenicity
PCCB
(G245fs +1 more)
Duplication
(frameshift variant)
Propionic acidemia
GLikely pathogenic
PCCB
(D293N +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
+1 more
GUncertain significance
PCCB
(P399R +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
PCCB
(A434V +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GPathogenic/Likely pathogenic
PCCA
(F37fs +1 more)
Deletion
(frameshift variant +2 more)
Propionic acidemia
GLikely pathogenic
PCCA
(R313* +1 more)
Single nucleotide variant
(nonsense +2 more)
Propionic acidemia
+1 more
GPathogenic
Format
Items per page
Sort by
Choose Destination