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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130005549, PDHX
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+2 more
GBenign
LOC130005549, PDHX
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
PDHX, LOC130005549
(R23C)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
LOC130005549, PDHX
(R24G)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
LOC130005549, PDHX
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E3-binding protein deficiency
+2 more
GBenign
LOC130005549, PDHX
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
PDHX
(D106G +1 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E3-binding protein deficiency
+2 more
GUncertain significance
PDHX
(V326L +1 more)
Single nucleotide variant
(missense variant +1 more)
PDHX-related condition
+4 more
GBenign/Likely benign
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