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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCCB
(G94*)
Single nucleotide variant
(nonsense)
Propionic acidemia
Gnot provided
PCCB
(G112D)
Single nucleotide variant
(missense variant)
Propionic acidemia
GPathogenic
PCCB
(A153P +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GPathogenic
PCCB
(E168K +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GPathogenic/Likely pathogenic
PCCB
(V288I +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GLikely benign
PCCB
(G427fs +1 more)
Indel
(frameshift variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
PCCB
(R410W +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GPathogenic/Likely pathogenic
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
(A497V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
PCCB
(R499* +1 more)
Single nucleotide variant
(nonsense)
Propionic acidemia
+1 more
GPathogenic
PCCB
(R512C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
PCCB
Duplication
(inframe_insertion)
Propionic acidemia
GPathogenic
PCCB
(L519P +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GPathogenic/Likely pathogenic
PCCB
(N536D +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
+1 more
GPathogenic
PCCA
(A138T +1 more)
Single nucleotide variant
(missense variant +2 more)
Propionic acidemia
GPathogenic/Likely pathogenic
PCCA
(I164T +1 more)
Single nucleotide variant
(missense variant +2 more)
Propionic acidemia
GLikely pathogenic
PCCA
(R288G +1 more)
Single nucleotide variant
(missense variant +2 more)
Propionic acidemia
GPathogenic/Likely pathogenic
PCCA
(R313* +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic
PCCA
(V551F +5 more)
Single nucleotide variant
(missense variant +1 more)
Propionic acidemia
+2 more
GConflicting classifications of pathogenicity
PCCA
(S562* +5 more)
Single nucleotide variant
(nonsense +1 more)
Propionic acidemia
Gnot provided
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