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Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MPC1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
MPC1
(A107V +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MPC1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
MPC1
(T106M +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GUncertain significance
MPC1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
MPC1
Duplication
(intron variant)
not provided
GLikely benign
MPC1
Single nucleotide variant
(intron variant)
not provided
GBenign
MPC1
(E59K +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GUncertain significance
MPC1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GBenign
MPC1
(H101Y +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
MPC1
(R54Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial pyruvate carrier deficiency
GLikely pathogenic
MPC1
(R97W +1 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial pyruvate carrier deficiency
GPathogenic
MPC1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
MPC1
(L49V +1 more)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial pyruvate carrier deficiency
GUncertain significance
MPC1
(R68C)
Single nucleotide variant
(synonymous variant +2 more)
MPC1-related disorder
GLikely benign
MPC1
(L79H +1 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial pyruvate carrier deficiency
GPathogenic
MPC1
(R33Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
MPC1
(Q74K +1 more)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial pyruvate carrier deficiency
GUncertain significance
MPC1
(K72E +1 more)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial pyruvate carrier deficiency
GLikely pathogenic
MPC1
(A27T +1 more)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial pyruvate carrier deficiency
GLikely pathogenic
MPC1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
MPC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MPC1
Single nucleotide variant
(intron variant)
not provided
GBenign
MPC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MPC1
(R11W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MPC1
(P37S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Mitochondrial pyruvate carrier deficiency
GLikely pathogenic
MPC1
(L36I)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
+1 more
GBenign
MPC1
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
MPC1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
MPC1
Single nucleotide variant
(intron variant)
not provided
GBenign
MPC1
Single nucleotide variant
(intron variant)
not provided
GBenign
MPC1
(T25M)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
MPC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MPC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MPC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MPC1
Single nucleotide variant
(intron variant)
not provided
GBenign
MPC1
Single nucleotide variant
(intron variant)
not provided
GBenign
MPC1
(Y21*)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
MPC1
(D17A)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
MPC1
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GBenign/Likely benign
MPC1
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
MPC1
(A47T +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
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