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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADS
(R14H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACADS
(W22L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACADS
(R107C)
Single nucleotide variant
(missense variant)
Deficiency of butyryl-CoA dehydrogenase
+2 more
GPathogenic
ACADS
(C109R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACADS
(D175N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACADS
(W177R)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
ACADS
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
ACADS
(A276T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACADS
(G281A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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