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Links from MedGen

Items: 1 to 100 of 857

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELAC2
Single nucleotide variant
(splice acceptor variant)
Combined oxidative phosphorylation defect type 17
GLikely pathogenic
ELAC2
(P441L +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 17
GUncertain significance
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
(H186R)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 17
+1 more
GUncertain significance
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Deletion
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
(C365fs +1 more)
Deletion
(frameshift variant)
Combined oxidative phosphorylation defect type 17
GPathogenic
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(splice donor variant)
Combined oxidative phosphorylation defect type 17
GLikely pathogenic
ELAC2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant +1 more)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Deletion
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Duplication
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
(P36S)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 17
GUncertain significance
ELAC2
Single nucleotide variant
(synonymous variant +1 more)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
(P453R +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 17
GUncertain significance
ELAC2
Deletion
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Microsatellite
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(splice acceptor variant)
Combined oxidative phosphorylation defect type 17
GLikely pathogenic
ELAC2
Single nucleotide variant
(synonymous variant +1 more)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Microsatellite
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
(P726Q +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 17
GUncertain significance
ELAC2
(F731fs +2 more)
Deletion
(frameshift variant)
Combined oxidative phosphorylation defect type 17
GUncertain significance
ELAC2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
(G123E)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 17
GUncertain significance
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Deletion
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Deletion
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
(L100fs)
Duplication
(frameshift variant)
Combined oxidative phosphorylation defect type 17
GPathogenic
ELAC2
(S198F +1 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 17
GUncertain significance
ELAC2
Deletion
(intron variant)
Combined oxidative phosphorylation defect type 17
GUncertain significance
ELAC2
Single nucleotide variant
(splice acceptor variant)
Combined oxidative phosphorylation defect type 17
GLikely pathogenic
ELAC2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
(S199R)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation defect type 17
GUncertain significance
ELAC2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
(E250fs +1 more)
Microsatellite
(frameshift variant)
Combined oxidative phosphorylation defect type 17
GPathogenic
ELAC2
(R166W)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 17
GUncertain significance
ELAC2
Duplication
(intron variant)
Combined oxidative phosphorylation defect type 17
GBenign
ELAC2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
ELAC2
Single nucleotide variant
(splice acceptor variant)
Combined oxidative phosphorylation defect type 17
GLikely pathogenic
ELAC2
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 17
GLikely benign
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