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Links from MedGen

Items: 1 to 100 of 2231

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCCB
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
(G437C +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GLikely pathogenic
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCB
(G246D +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GLikely pathogenic
PCCB
(S123fs +1 more)
Microsatellite
(frameshift variant)
Propionic acidemia
GPathogenic
PCCB
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
(I425fs +5 more)
Deletion
(frameshift variant +1 more)
Propionic acidemia
GPathogenic
PCCA
(Y381fs +5 more)
Microsatellite
(frameshift variant +1 more)
Propionic acidemia
GPathogenic
PCCB
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCB
(A523V +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +1 more)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCB
(G457D +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GLikely pathogenic
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +1 more)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(splice acceptor variant)
Propionic acidemia
GLikely pathogenic
PCCB
Duplication
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Deletion
(intron variant)
Propionic acidemia
GLikely benign
PCCB
(V225G +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GLikely pathogenic
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Deletion
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +1 more)
Propionic acidemia
GLikely benign
PCCA
Deletion
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(5 prime UTR variant +3 more)
Propionic acidemia
GLikely benign
PCCA
(N109fs +5 more)
Duplication
(frameshift variant +1 more)
Propionic acidemia
GPathogenic
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCB
Duplication
(intron variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(splice acceptor variant)
Propionic acidemia
GLikely pathogenic
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
(Q147* +1 more)
Single nucleotide variant
(nonsense)
Propionic acidemia
GPathogenic
PCCB
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCB
(N270D +1 more)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCB
Duplication
(intron variant)
Propionic acidemia
GBenign
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCB
(G20fs)
Deletion
(frameshift variant)
Propionic acidemia
GPathogenic
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
(R17fs)
Deletion
(frameshift variant +2 more)
Propionic acidemia
GPathogenic
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCA
(Y271* +7 more)
Single nucleotide variant
(nonsense +2 more)
Propionic acidemia
GPathogenic
PCCB
Single nucleotide variant
(intron variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
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