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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCCB
(L14F)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(L28V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PCCB
(D125fs +1 more)
Duplication
(frameshift variant)
Propionic acidemia
GLikely pathogenic
PCCB
Single nucleotide variant
(splice acceptor variant)
Propionic acidemia
GPathogenic
PCCB
Deletion
(nonsense)
Propionic acidemia
GLikely pathogenic
PCCB
Single nucleotide variant
(splice acceptor variant)
Propionic acidemia
GPathogenic/Likely pathogenic
PCCB
(H258Q +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
+2 more
GConflicting classifications of pathogenicity
PCCB
(D273V +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(C291Y +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PCCB
(R297H +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
+1 more
GUncertain significance
PCCB
(P300L +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(T304I +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
+2 more
GConflicting classifications of pathogenicity
PCCB
(Y314* +1 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
PCCB
(C381fs +1 more)
Duplication
(frameshift variant)
Propionic acidemia
GPathogenic
PCCB
(T428I +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GPathogenic
PCCB
(Y435C +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GPathogenic/Likely pathogenic
PCCB
(A438D +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GConflicting classifications of pathogenicity
PCCB
(D450N +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(R514Q +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GConflicting classifications of pathogenicity
PCCB
(R529C +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(N536D +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
+1 more
GPathogenic
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