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Items: 46

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD9
(S2R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACAD9
(G19V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ACAD9
(A25T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ACAD9
(N26S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ACAD9
(R31C)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
ACAD9
(P34S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ACAD9
(I67T)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ACAD9
(V74M)
Single nucleotide variant
(missense variant +1 more)
Acyl-CoA dehydrogenase 9 deficiency
+2 more
GUncertain significance
ACAD9
(D95A)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ACAD9
(Q110H)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
ACAD9
(I132T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ACAD9
(T141I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACAD9
(A21V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACAD9
(E36K +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACAD9
(E160A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
ACAD9
(N85S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ACAD9
(L219R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ACAD9
(E260K)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
ACAD9
(I142T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACAD9, LOC126806807
(L300R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACAD9, LOC126806807
(V311M)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ACAD9
Single nucleotide variant
(splice acceptor variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ACAD9
(E255K +1 more)
Single nucleotide variant
(missense variant +1 more)
Acyl-CoA dehydrogenase 9 deficiency
+1 more
GUncertain significance
ACAD9
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+2 more
GUncertain significance
ACAD9
(A397V)
Single nucleotide variant
(missense variant +1 more)
Acyl-CoA dehydrogenase 9 deficiency
+1 more
GUncertain significance
ACAD9
(P411L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACAD9
(Y289F +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACAD9
(R297H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ACAD9
(I421T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ACAD9
(E303K +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACAD9
(L438M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACAD9
(T462R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACAD9
(V467I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
ACAD9
(V489A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ACAD9, CFAP92
(A411V +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ACAD9, CFAP92
(I554fs +1 more)
Duplication
(frameshift variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ACAD9, CFAP92
(S548L +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ACAD9, CFAP92
(I556V +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ACAD9, CFAP92
(I556T +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ACAD9, CFAP92
Microsatellite
(intron variant)
Inborn genetic diseases
GLikely benign
ACAD9, CFAP92
(N569S +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ACAD9, CFAP92
(V573M +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ACAD9, CFAP92
(L471P +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ACAD9, CFAP92
(R486Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
ACAD9, CFAP92
(P616S +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
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