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Links from MedGen

Items: 1 to 100 of 1562

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
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
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
ETFDH
(G152A +2 more)
Single nucleotide variant
(missense variant)
Multiple acyl-CoA dehydrogenase deficiency
GUncertain significance
ETFB
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
ETFDH
(A18T +2 more)
Single nucleotide variant
(missense variant)
Multiple acyl-CoA dehydrogenase deficiency
GUncertain significance
ETFDH
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFA
Deletion
(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
ETFA
Single nucleotide variant
(synonymous variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFA
Deletion
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Single nucleotide variant
(synonymous variant)
Multiple acyl-CoA dehydrogenase deficiency
GUncertain significance
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
(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
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
ETFA
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFA
(I59fs +1 more)
Deletion
(frameshift variant)
Multiple acyl-CoA dehydrogenase deficiency
GPathogenic
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
ETFDH
Microsatellite
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFB
Single nucleotide variant
(synonymous variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFA
Microsatellite
(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
(synonymous variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
ETFDH
Deletion
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GBenign
ETFA
Single nucleotide variant
(intron variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely benign
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