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Links from MedGen

Items: 1 to 100 of 199

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DLAT
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
(Q190* +4 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Pyruvate dehydrogenase E2 deficiency
GPathogenic
DLAT
(T49I)
Single nucleotide variant
(missense variant +3 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT
(A198T +4 more)
Single nucleotide variant
(missense variant +2 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT
Single nucleotide variant
(synonymous variant +2 more)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Single nucleotide variant
(synonymous variant +2 more)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Single nucleotide variant
(intron variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT, PIH1D2
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
(R281* +8 more)
Single nucleotide variant
(nonsense +2 more)
Pyruvate dehydrogenase E2 deficiency
GPathogenic
DLAT
Single nucleotide variant
(splice donor variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GLikely pathogenic
DLAT
(V231fs +5 more)
Duplication
(frameshift variant +2 more)
Pyruvate dehydrogenase E2 deficiency
GPathogenic
DLAT
(E141fs +6 more)
Deletion
(frameshift variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GPathogenic
DLAT
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT, PIH1D2
Duplication
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GBenign
DLAT
(A199V +4 more)
Single nucleotide variant
(missense variant +2 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
(I120M +4 more)
Single nucleotide variant
(missense variant +3 more)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
(A77P)
Single nucleotide variant
(synonymous variant +4 more)
Pyruvate dehydrogenase E2 deficiency
GBenign
DLAT
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
(T185I +7 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT, PIH1D2
(I377V +12 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT
(I146M +6 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT
(P89T +1 more)
Single nucleotide variant
(missense variant +3 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT
Deletion
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
ALG9, BCO2
+24 more
Duplication
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
+1 more
GUncertain significance
DLAT, PIH1D2
Deletion
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
(E138* +3 more)
Single nucleotide variant
(non-coding transcript variant +3 more)
Pyruvate dehydrogenase E2 deficiency
GPathogenic
DLAT
(G264D +8 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT, PIH1D2
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
(L275V +6 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
(P63L)
Single nucleotide variant
(missense variant +4 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT
(S160L +4 more)
Single nucleotide variant
(missense variant +2 more)
Pyruvate dehydrogenase E2 deficiency
+1 more
GUncertain significance
DLAT
(G118R +3 more)
Single nucleotide variant
(missense variant +3 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT, PIH1D2
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
(T177N +4 more)
Single nucleotide variant
(missense variant +2 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT, PIH1D2
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Deletion
(inframe_deletion +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
DLAT
Duplication
(inframe_insertion +2 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT
(T408A +11 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT
(A57S +1 more)
Single nucleotide variant
(non-coding transcript variant +3 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT
(S298I +8 more)
Indel
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT
(V306L +8 more)
Single nucleotide variant
(missense variant +2 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
(S8F)
Single nucleotide variant
(synonymous variant +3 more)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
(G201D +4 more)
Single nucleotide variant
(missense variant +2 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Duplication
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GBenign
DLAT
(T219A +6 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT, PIH1D2
(G450C +12 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT
Single nucleotide variant
(synonymous variant +3 more)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
(Y85D +1 more)
Single nucleotide variant
(missense variant +3 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT, PIH1D2
(D490G +12 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT
Deletion
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
(A61T)
Single nucleotide variant
(synonymous variant +4 more)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Single nucleotide variant
(synonymous variant +2 more)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
(A119V +4 more)
Single nucleotide variant
(missense variant +3 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT, PIH1D2
(V567L +12 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT, PIH1D2
(V454E +12 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT
(P76T)
Single nucleotide variant
(synonymous variant +4 more)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT, PIH1D2
(I579V +12 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
DLAT
Single nucleotide variant
(synonymous variant +3 more)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
(F468del)
Microsatellite
(inframe_deletion +1 more)
Pyruvate dehydrogenase E2 deficiency
GBenign
DLAT
Single nucleotide variant
(synonymous variant +3 more)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Single nucleotide variant
(synonymous variant +2 more)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Insertion
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Single nucleotide variant
(synonymous variant +2 more)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT, PIH1D2
Deletion
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GBenign
DLAT
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT, PIH1D2
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Single nucleotide variant
(synonymous variant +3 more)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT, PIH1D2
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Indel
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT
(D206Y +6 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT, PIH1D2
(E464K +12 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT, PIH1D2
Duplication
(inframe_insertion +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT
(K142R +6 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT
(R33Q)
Single nucleotide variant
(missense variant +3 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT
(A317T +7 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
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