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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OXCT1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
OXCT1
(I270K +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
OXCT1
(V245F +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
OXCT1
(S226I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
OXCT1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign
OXCT1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign/Likely benign
OXCT1
(G139S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
OXCT1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
OXCT1
(R38C +1 more)
Single nucleotide variant
(missense variant +1 more)
OXCT1-related condition
+3 more
GBenign/Likely benign
OXCT1, OXCT1-AS1
Duplication
(intron variant +1 more)
not provided
+1 more
GBenign/Likely benign
OXCT1-AS1, OXCT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
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