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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCCB
(R113*)
Single nucleotide variant
(nonsense)
Propionic acidemia
+2 more
GPathogenic
PCCB
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
PCCB
(F129* +1 more)
Indel
(nonsense)
not provided
+1 more
GPathogenic
PCCB
(E168K +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GPathogenic/Likely pathogenic
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GUncertain significance
PCCB
(P228L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic
PCCB
(G245S +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GConflicting classifications of pathogenicity
PCCB
(R272Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PCCB
(H312Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PCCB
(T304I +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
+2 more
GConflicting classifications of pathogenicity
PCCB
(E351* +1 more)
Duplication
(nonsense)
not provided
+1 more
GPathogenic
PCCB
(D382G +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(V412fs +1 more)
Duplication
(frameshift variant)
Propionic acidemia
+1 more
GPathogenic
PCCB
(G427fs +1 more)
Indel
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
PCCB
(A438G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PCCB
(Y435C +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GPathogenic/Likely pathogenic
PCCB
(A458T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PCCB
(I480V +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(A497V +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
+1 more
GBenign/Likely benign
PCCB
(R499* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
PCCB
Single nucleotide variant
(splice donor variant)
Propionic acidemia
GPathogenic
PCCB
(R512H +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GLikely pathogenic
PCCB
(R514* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
PCCB
(L519P +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GPathogenic/Likely pathogenic
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