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Items: 60

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADM
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GBenign
ACADM
(E40Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACADM
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
ACADM
(T42I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ACADM
(E43K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
ACADM
(Q45R +2 more)
Single nucleotide variant
(missense variant +1 more)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
+1 more
GPathogenic/Likely pathogenic
ACADM
(R53C +2 more)
Single nucleotide variant
(missense variant +1 more)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
+1 more
GPathogenic
ACADM
(Y67H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
ACADM
Single nucleotide variant
(splice donor variant)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
+1 more
GPathogenic
ACADM
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
ACADM
(L77Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACADM
(I78T +2 more)
Single nucleotide variant
(missense variant +1 more)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
+1 more
GPathogenic
ACADM
(W46fs +2 more)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
ACADM
(G85C +2 more)
Single nucleotide variant
(missense variant +1 more)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
GPathogenic/Likely pathogenic
ACADM
(G85S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
ACADM
(G96R +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACADM
Duplication
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACADM
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ACADM
(G103V +3 more)
Single nucleotide variant
(missense variant +1 more)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
+1 more
GUncertain significance
ACADM
(I108fs +3 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
ACADM
(L111S +3 more)
Single nucleotide variant
(missense variant +1 more)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
GPathogenic/Likely pathogenic
ACADM
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
ACADM
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign
ACADM
Deletion
(splice donor variant +1 more)
not provided
+1 more
GPathogenic
ACADM
(G129W +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ACADM
Single nucleotide variant
(intron variant)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
+1 more
GConflicting classifications of pathogenicity
ACADM
Deletion
(intron variant)
not specified
+1 more
GUncertain significance
ACADM
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ACADM
(K144del +3 more)
Deletion
(inframe_deletion +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ACADM
(K144del +3 more)
Microsatellite
(inframe_deletion +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ACADM
(R152K +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GPathogenic/Likely pathogenic
ACADM
(T150fs +3 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
ACADM
(M149I +3 more)
Single nucleotide variant
(missense variant +1 more)
ACADM-related condition
+2 more
GPathogenic/Likely pathogenic
ACADM
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ACADM
(A161T +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACADM
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
ACADM
Microsatellite
(nonsense +1 more)
not provided
GPathogenic
ACADM
(N190K +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ACADM
(G199R +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ACADM
(R210C +3 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GPathogenic/Likely pathogenic
ACADM
(R210H +3 more)
Single nucleotide variant
(missense variant)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
+1 more
GPathogenic/Likely pathogenic
ACADM
(T220I +4 more)
Single nucleotide variant
(missense variant)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
+1 more
GConflicting classifications of pathogenicity
ACADM
(E225K +4 more)
Single nucleotide variant
(missense variant)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
+1 more
GConflicting classifications of pathogenicity
ACADM
(I231T +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACADM
(I233T +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ACADM
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACADM
(S245L +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ACADM
(G267R +4 more)
Single nucleotide variant
(missense variant)
ACADM-related condition
+2 more
GPathogenic/Likely pathogenic
ACADM
(F309fs +4 more)
Deletion
(frameshift variant)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
+1 more
GPathogenic
ACADM
(G314R +4 more)
Single nucleotide variant
(missense variant)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
GPathogenic/Likely pathogenic
ACADM
(L313P +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACADM
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ACADM
(Q149* +4 more)
Duplication
(nonsense)
ACADM-related condition
+2 more
GPathogenic/Likely pathogenic
ACADM
(S340N +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACADM
(A340V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ACADM
(A341V +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACADM
(Y352D +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACADM
(I368T +3 more)
Single nucleotide variant
(missense variant)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
+2 more
GConflicting classifications of pathogenicity
ACADM
(A180fs +4 more)
Deletion
(frameshift variant)
ACADM-related condition
+2 more
GPathogenic/Likely pathogenic
ACADM
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
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