U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADM
(M1fs)
Indel
(frameshift variant +2 more)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
GPathogenic/Likely pathogenic
ACADM
Single nucleotide variant
(splice donor variant)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
GPathogenic/Likely pathogenic
ACADM
(E43K +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
ACADM
(F55fs +2 more)
Deletion
(frameshift variant +1 more)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
GPathogenic/Likely pathogenic
ACADM
(Y67H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
ACADM
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACADM
(I78T +2 more)
Single nucleotide variant
(missense variant +1 more)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
+1 more
GPathogenic
ACADM
(G85C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ACADM
(C116G +3 more)
Single nucleotide variant
(missense variant +1 more)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
+1 more
GConflicting classifications of pathogenicity
ACADM
(T121I +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ACADM
Deletion
(splice donor variant +1 more)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
+1 more
GPathogenic
ACADM
(R152K +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
ACADM
Single nucleotide variant
(intron variant)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
+2 more
GPathogenic/Likely pathogenic
ACADM
(Y205fs +4 more)
Deletion
(frameshift variant)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
GPathogenic/Likely pathogenic
ACADM
(R210C +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ACADM
(M204T +4 more)
Single nucleotide variant
(missense variant)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
GUncertain significance
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 disorder
+2 more
GPathogenic/Likely pathogenic
ACADM
(G233D +4 more)
Single nucleotide variant
(missense variant)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
GUncertain significance
ACADM
(K235N +4 more)
Single nucleotide variant
(missense variant)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
+1 more
GUncertain significance
ACADM
(G314R +4 more)
Single nucleotide variant
(missense variant)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
GPathogenic/Likely pathogenic
ACADM
Single nucleotide variant
(intron variant)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
GConflicting classifications of pathogenicity
ACADM
(K329E +4 more)
Single nucleotide variant
(missense variant)
Epileptic spasm
+4 more
GPathogenic/Likely pathogenic
ACADM
(A152T +4 more)
Single nucleotide variant
(missense variant)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
GUncertain significance
ACADM
(R349* +4 more)
Single nucleotide variant
(nonsense)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
+1 more
GPathogenic/Likely pathogenic
ACADM
(K169fs +4 more)
Duplication
(frameshift variant)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
GLikely pathogenic
ACADM
(I368T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ACADM
(A180fs +4 more)
Deletion
(frameshift variant)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
+2 more
GPathogenic/Likely pathogenic
ACADM
(A372D +4 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
ACADM
Single nucleotide variant
(splice donor variant)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
GLikely pathogenic
ACADM
Single nucleotide variant
(stop lost)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
GUncertain significance
Format
Items per page
Sort by
Choose Destination