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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCCB
(M1K)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
PCCB
(M1I)
Single nucleotide variant
(missense variant +1 more)
Propionic acidemia
+1 more
GPathogenic
PCCB
(L17M)
Single nucleotide variant
(missense variant)
Propionic acidemia
+3 more
GConflicting classifications of pathogenicity
PCCB
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PCCB
Single nucleotide variant
(intron variant)
PCCB-related condition
+2 more
GConflicting classifications of pathogenicity
PCCB
Single nucleotide variant
(intron variant)
Propionic acidemia
+3 more
GBenign
PCCB
Single nucleotide variant
(splice acceptor variant)
Propionic acidemia
+1 more
GPathogenic/Likely pathogenic
PCCB
(F129* +1 more)
Indel
(nonsense)
not provided
+1 more
GPathogenic
PCCB
Duplication
(inframe_insertion)
not provided
GPathogenic
PCCB
(Y206C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PCCB
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
PCCB
(P228L +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
+3 more
GPathogenic
PCCB
(R272Q +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
+2 more
GConflicting classifications of pathogenicity
PCCB
(D293N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PCCB
(V299F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PCCB
(Y314* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
PCCB
Single nucleotide variant
(intron variant)
not specified
GBenign
PCCB
(E351* +1 more)
Duplication
(nonsense)
not provided
+1 more
GPathogenic
PCCB
(G343R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PCCB
(N385S +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
+1 more
GConflicting classifications of pathogenicity
PCCB
(G427fs +1 more)
Indel
(frameshift variant)
Propionic acidemia
+3 more
GPathogenic/Likely pathogenic
PCCB
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PCCB
(N536D +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
+1 more
GPathogenic
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