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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DLAT
(E19Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Pyruvate dehydrogenase E2 deficiency
+3 more
GBenign
DLAT
(P76T)
Single nucleotide variant
(synonymous variant +4 more)
DLAT-related disorder
+1 more
GLikely benign
DLAT
(S8F)
Single nucleotide variant
(synonymous variant +3 more)
Pyruvate dehydrogenase E2 deficiency
+1 more
GLikely benign
DLAT
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
DLAT
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
DLAT
(D381G +8 more)
Single nucleotide variant
(missense variant +1 more)
DLAT-related disorder
+2 more
GLikely benign
DLAT, PIH1D2
Single nucleotide variant
(intron variant)
DLAT-related disorder
GLikely benign
DLAT, PIH1D2
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
+1 more
GLikely benign
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