U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 189

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD9, ACAD9-DT
+9 more
Copy number gain
See cases
GUncertain significance
ACAD9, ACAD9-DT
Single nucleotide variant
not provided
GLikely benign
ACAD9, ACAD9-DT
Single nucleotide variant
not provided
GLikely benign
ACAD9, ACAD9-DT
Single nucleotide variant
not provided
GBenign
ACAD9
Single nucleotide variant
not provided
+1 more
GConflicting classifications of pathogenicity
ACAD9
Microsatellite
(5 prime UTR variant +1 more)
Acyl-CoA dehydrogenase 9 deficiency
+1 more
GBenign
ACAD9
Duplication
(5 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ACAD9
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
ACAD9
(L6fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ACAD9
(C4F)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACAD9
(R31C)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
ACAD9
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GLikely benign
ACAD9
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign/Likely benign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAD9
(K51I)
Single nucleotide variant
(missense variant +1 more)
Acyl-CoA dehydrogenase 9 deficiency
+1 more
GUncertain significance
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
Acyl-CoA dehydrogenase 9 deficiency
+1 more
GConflicting classifications of pathogenicity
ACAD9
(P73T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACAD9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACAD9
Deletion
(intron variant)
not provided
GBenign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAD9
Single nucleotide variant
(intron variant)
Acyl-CoA dehydrogenase 9 deficiency
+1 more
GBenign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAD9
Duplication
(intron variant)
not provided
GBenign
ACAD9
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
ACAD9
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
ACAD9
(F120fs)
Deletion
(frameshift variant +1 more)
Mitochondrial complex I deficiency
+2 more
GPathogenic/Likely pathogenic
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
Acyl-CoA dehydrogenase 9 deficiency
+2 more
GBenign
ACAD9
(A143T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACAD9
(I148V)
Single nucleotide variant
(missense variant +1 more)
Acyl-CoA dehydrogenase 9 deficiency
+1 more
GUncertain significance
ACAD9
(G149S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACAD9
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAD9
Duplication
(intron variant)
not provided
GBenign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
ACAD9
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACAD9
(E160A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
ACAD9
(A170V)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACAD9
(G172R)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
ACAD9
(L180F)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ACAD9
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
ACAD9
Microsatellite
(intron variant)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAD9
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ACAD9
(S185R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ACAD9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAD9
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
ACAD9
(N221S)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
ACAD9
(I222T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
ACAD9
Indel
(nonsense +1 more)
not provided
GLikely pathogenic
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
ACAD9
(R266W)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
ACAD9
(R266Q)
Single nucleotide variant
(missense variant +1 more)
Acyl-CoA dehydrogenase 9 deficiency
+1 more
GPathogenic/Likely pathogenic
ACAD9
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
ACAD9
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACAD9
Microsatellite
(intron variant)
not provided
GBenign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAD9
Microsatellite
(intron variant)
not provided
GBenign
ACAD9
Microsatellite
(intron variant)
not provided
GBenign
ACAD9
Microsatellite
(intron variant)
not provided
GBenign
ACAD9
Microsatellite
(intron variant)
not provided
+1 more
GBenign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACAD9
Microsatellite
(intron variant)
not provided
GBenign
ACAD9
Microsatellite
(intron variant)
not provided
GBenign
ACAD9
Single nucleotide variant
(intron variant)
not specified
GLikely benign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAD9, LOC126806807
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAD9, LOC126806807
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GLikely benign
ACAD9, LOC126806807
(V311M)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ACAD9, LOC126806807
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GLikely benign
LOC126806807, ACAD9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACAD9, LOC126806807
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACAD9, LOC126806807
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ACAD9
(A326T)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
ACAD9
(A326P)
Single nucleotide variant
(missense variant +1 more)
Acyl-CoA dehydrogenase 9 deficiency
+2 more
GPathogenic/Likely pathogenic
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACAD9
(K330Q)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
ACAD9
(E338A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACAD9
(L341S)
Single nucleotide variant
(missense variant +1 more)
Acyl-CoA dehydrogenase 9 deficiency
+1 more
GConflicting classifications of pathogenicity
ACAD9
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic/Likely pathogenic
ACAD9
(A230V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
ACAD9
(E234D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination