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Links from MedGen

Items: 1 to 100 of 1000

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ETFA
Deletion
(splice acceptor variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ETFA
Single nucleotide variant
(splice acceptor variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ETFB
Deletion
Multiple acyl-CoA dehydrogenase deficiency
GPathogenic
ETFB
Deletion
Multiple acyl-CoA dehydrogenase deficiency
GPathogenic
ETFB
Deletion
Multiple acyl-CoA dehydrogenase deficiency
GPathogenic
ETFDH
Duplication
Multiple acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ETFDH
Deletion
Multiple acyl-CoA dehydrogenase deficiency
GPathogenic
ETFDH
Deletion
Multiple acyl-CoA dehydrogenase deficiency
GPathogenic
ETFDH
Deletion
Multiple acyl-CoA dehydrogenase deficiency
GPathogenic
ETFA
Deletion
Multiple acyl-CoA dehydrogenase deficiency
GPathogenic
ETFA
Deletion
Multiple acyl-CoA dehydrogenase deficiency
GPathogenic
ETFDH
(G245fs +2 more)
Duplication
(frameshift variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ETFDH
(V113A +2 more)
Single nucleotide variant
(missense variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ETFDH
(S430fs +2 more)
Duplication
(frameshift variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ETFDH
(W415* +2 more)
Single nucleotide variant
(nonsense)
Multiple acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ETFDH
(L26fs +2 more)
Deletion
(frameshift variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ETFDH
(S396fs +2 more)
Deletion
(frameshift variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ETFDH
(L115F +2 more)
Single nucleotide variant
(missense variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ETFDH
(P40fs)
Deletion
(frameshift variant +1 more)
Multiple acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ETFDH
Duplication
(splice donor variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ETFDH
(E360* +2 more)
Duplication
(nonsense)
Multiple acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ETFDH
(W236* +2 more)
Single nucleotide variant
(nonsense)
Multiple acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ETFDH
(Q523* +2 more)
Single nucleotide variant
(nonsense)
Multiple acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ETFDH
(Y300* +2 more)
Single nucleotide variant
(nonsense)
Multiple acyl-CoA dehydrogenase deficiency
GPathogenic
ETFB
(V113fs)
Duplication
(frameshift variant +1 more)
Multiple acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ETFB
Single nucleotide variant
(splice acceptor variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ETFB
(K114fs +1 more)
Indel
(frameshift variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ETFA
Single nucleotide variant
(splice donor variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ETFA
(C106* +1 more)
Single nucleotide variant
(nonsense)
Multiple acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ETFB
(N188K +1 more)
Single nucleotide variant
(missense variant)
Multiple acyl-CoA dehydrogenase deficiency
GUncertain significance
ETFA
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
(V280fs +2 more)
Deletion
(frameshift variant)
Multiple acyl-CoA dehydrogenase deficiency
GPathogenic
ETFDH
Single nucleotide variant
(synonymous variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFB
Single nucleotide variant
(synonymous variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Deletion
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Deletion
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GBenign
ETFB
Single nucleotide variant
(synonymous variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFA
Single nucleotide variant
(synonymous variant +1 more)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFA
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Single nucleotide variant
(synonymous variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFA
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Deletion
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GBenign
ETFDH
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Single nucleotide variant
(synonymous variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFB
Single nucleotide variant
(synonymous variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFA
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFB
(P107S)
Single nucleotide variant
(missense variant +1 more)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFB
Single nucleotide variant
(synonymous variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
(D546fs +2 more)
Deletion
(frameshift variant)
Multiple acyl-CoA dehydrogenase deficiency
GPathogenic
ETFDH
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFB
Single nucleotide variant
(synonymous variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFA
Duplication
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFB
Single nucleotide variant
(synonymous variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFA
Single nucleotide variant
(synonymous variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Single nucleotide variant
(synonymous variant +1 more)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFB
Single nucleotide variant
(synonymous variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFA
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
ETFA
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFA
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Single nucleotide variant
(synonymous variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFB
Single nucleotide variant
(synonymous variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFB
(E151* +1 more)
Single nucleotide variant
(nonsense)
Multiple acyl-CoA dehydrogenase deficiency
GPathogenic/Likely pathogenic
ETFDH
Deletion
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GBenign
ETFDH
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFB
Single nucleotide variant
(synonymous variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFB
Single nucleotide variant
(synonymous variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Single nucleotide variant
(synonymous variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFB
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFA
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Single nucleotide variant
(synonymous variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFA
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFA
Single nucleotide variant
(synonymous variant +1 more)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Single nucleotide variant
(synonymous variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFA
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFA
Single nucleotide variant
(synonymous variant +1 more)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFB
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFA
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Single nucleotide variant
(synonymous variant +1 more)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFA
Single nucleotide variant
(synonymous variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFB
Single nucleotide variant
(synonymous variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFA
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFA
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFA
Duplication
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFA
Single nucleotide variant
(synonymous variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
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