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Links from MedGen

Items: 1 to 100 of 177

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OXCT1, OXCT1-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
(R468H +4 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
Single nucleotide variant
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
(I139V +3 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
LOC121725203, OXCT1
Single nucleotide variant
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
(D102H +1 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
Single nucleotide variant
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
Single nucleotide variant
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
Single nucleotide variant
(synonymous variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
Single nucleotide variant
(synonymous variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
(G84E +1 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
(V289A +4 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
(G102A +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
OXCT1
(N175D +1 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
Single nucleotide variant
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
Single nucleotide variant
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
Single nucleotide variant
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
Single nucleotide variant
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
(G492D +4 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
LOC121725203, OXCT1
Microsatellite
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
GBenign
OXCT1
(R110H +1 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
LOC121725203, OXCT1
Deletion
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
GBenign
OXCT1, OXCT1-AS1
Single nucleotide variant
(non-coding transcript variant +2 more)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
(R279H +3 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
(A290fs +3 more)
Duplication
(frameshift variant +1 more)
OXCT1-related condition
+1 more
GPathogenic/Likely pathogenic
OXCT1
Single nucleotide variant
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
LOC121725203, OXCT1
Single nucleotide variant
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
Single nucleotide variant
(synonymous variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
Single nucleotide variant
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
Deletion
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
GBenign
OXCT1
Single nucleotide variant
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
(P328L +4 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
LOC121725203, OXCT1
Microsatellite
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
GBenign
OXCT1
Single nucleotide variant
(synonymous variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
(Y273C +3 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
(M448V +3 more)
Single nucleotide variant
(missense variant +2 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
(I179M +1 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
Single nucleotide variant
(synonymous variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
Single nucleotide variant
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
LOC121725203, OXCT1
Single nucleotide variant
(synonymous variant)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
Single nucleotide variant
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
(K232R +2 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
Single nucleotide variant
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
Single nucleotide variant
(splice donor variant)
Succinyl-CoA acetoacetate transferase deficiency
GPathogenic
OXCT1
Single nucleotide variant
(splice acceptor variant)
Succinyl-CoA acetoacetate transferase deficiency
GPathogenic
OXCT1
Single nucleotide variant
(synonymous variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
Single nucleotide variant
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
Single nucleotide variant
(synonymous variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
Deletion
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
GBenign
OXCT1
Duplication
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
GBenign
OXCT1
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
+1 more
GLikely benign
OXCT1
Single nucleotide variant
(synonymous variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
Single nucleotide variant
(synonymous variant +2 more)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
Single nucleotide variant
(synonymous variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
Single nucleotide variant
(synonymous variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
(A215V +3 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
LOC121725203, OXCT1
(T370I +3 more)
Single nucleotide variant
(missense variant)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
Deletion
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
(K116T +1 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
(R468L +4 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
(T455R +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
OXCT1
Single nucleotide variant
(synonymous variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
(R283Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
(V468I +4 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
(G151fs +1 more)
Duplication
(frameshift variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GLikely pathogenic
OXCT1
Single nucleotide variant
(splice donor variant)
Succinyl-CoA acetoacetate transferase deficiency
GLikely pathogenic
OXCT1
Single nucleotide variant
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
+1 more
GBenign
OXCT1
Duplication
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
GBenign
OXCT1
Single nucleotide variant
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
GBenign
OXCT1
Single nucleotide variant
(synonymous variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
Single nucleotide variant
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
Single nucleotide variant
(synonymous variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
Single nucleotide variant
(synonymous variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
Single nucleotide variant
(synonymous variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GLikely benign
OXCT1
(R217* +2 more)
Single nucleotide variant
(nonsense +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GPathogenic
OXCT1
(R266H +3 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GPathogenic
OXCT1
(T271I +4 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GPathogenic
OXCT1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OXCT1
(M329V +4 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
Single nucleotide variant
(splice acceptor variant)
Succinyl-CoA acetoacetate transferase deficiency
GLikely pathogenic
OXCT1
(V50I +1 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
(L311F +3 more)
Indel
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
(A215V +2 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
(K269R +3 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
(V394I +3 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1, OXCT1-AS1
Single nucleotide variant
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
Single nucleotide variant
(synonymous variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
(A477V +4 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1, OXCT1-AS1
Single nucleotide variant
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1, OXCT1-AS1
(L6F)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
OXCT1
Single nucleotide variant
(intron variant)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
Single nucleotide variant
(3 prime UTR variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
Single nucleotide variant
(3 prime UTR variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
Single nucleotide variant
(3 prime UTR variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
OXCT1
Single nucleotide variant
(3 prime UTR variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance
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