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Items: 1 to 100 of 1173

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCCB
Deletion
Propionic acidemia
GPathogenic
PCCB
Single nucleotide variant
not provided
GBenign
PCCB
Single nucleotide variant
not provided
GLikely benign
PCCB
Single nucleotide variant
not provided
GLikely benign
PCCB
Single nucleotide variant
Propionic acidemia
GUncertain significance
PCCB
Single nucleotide variant
not specified
+2 more
GBenign/Likely benign
PCCB
Single nucleotide variant
(5 prime UTR variant)
Propionic acidemia
GUncertain significance
PCCB
Single nucleotide variant
(5 prime UTR variant)
Propionic acidemia
GUncertain significance
PCCB
(M1fs)
Deletion
(frameshift variant +1 more)
Propionic acidemia
GPathogenic
PCCB
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
PCCB
Deletion
Propionic acidemia
GPathogenic
PCCB
Duplication
(inframe_insertion +1 more)
Propionic acidemia
GUncertain significance
PCCB
(M1R)
Single nucleotide variant
(missense variant +1 more)
Propionic acidemia
GPathogenic
PCCB
(M1K)
Indel
(missense variant +1 more)
Propionic acidemia
GPathogenic
PCCB
(M1T)
Single nucleotide variant
(missense variant +1 more)
Propionic acidemia
GPathogenic
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
(A2V)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(A2E)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Deletion
(inframe_deletion)
Propionic acidemia
GUncertain significance
PCCB
(A3V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PCCB
(A4fs)
Deletion
(frameshift variant)
Propionic acidemia
GPathogenic
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
(L5*)
Single nucleotide variant
(nonsense)
Propionic acidemia
GPathogenic/Likely pathogenic
PCCB
(R6G)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(R6W)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(R6Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PCCB
(R6L)
Single nucleotide variant
(missense variant)
Propionic acidemia
+1 more
GUncertain significance
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
(V7L)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
(A8V)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
(G11R)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(A12T)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(A12E)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(R13K)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(R13S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
(L14I)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(L14F)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GConflicting classifications of pathogenicity
PCCB
(V16F)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
(L17M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PCCB
(A18fs)
Deletion
(frameshift variant)
Propionic acidemia
GLikely pathogenic
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
(A18V)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(A18G)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
(G20C)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(G20S)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(G20fs)
Deletion
(frameshift variant)
Propionic acidemia
GPathogenic
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
(R22C)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
+1 more
GLikely benign
PCCB
(A23T)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(A23V)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
(V25I)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(R26fs)
Duplication
(frameshift variant)
Propionic acidemia
GPathogenic
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Indel
(splice donor variant)
Propionic acidemia
GLikely pathogenic
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
(L28F)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(L28V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PCCB
(C29F)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(S30G)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
Insertion
(inframe_insertion)
Propionic acidemia
GUncertain significance
PCCB
(A32T)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(A32V)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
(N36*)
Duplication
(nonsense)
Propionic acidemia
GPathogenic
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