U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDHA1
(L104P +2 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PDHA1
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E1-alpha deficiency
+1 more
GPathogenic
PDHA1
Single nucleotide variant
(synonymous variant)
PDHA1-related condition
+3 more
GConflicting classifications of pathogenicity
PDHA1
(M210V +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PDHA1
(W214R +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PDHA1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
PDHA1
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase complex deficiency
GBenign
PDHA1
(M282L +3 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase complex deficiency
GBenign
PDHA1
(A349T +3 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E1-alpha deficiency
+1 more
GConflicting classifications of pathogenicity
PDHA1
(R378L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination