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Items: 59

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCD1
(R11fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ABCD1
(R85fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
ABCD1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCD1
(G116R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
ABCD1
(Q136*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
ABCD1
(A141T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
ABCD1
(V167fs)
Deletion
(frameshift variant)
Adrenoleukodystrophy
+1 more
GPathogenic/Likely pathogenic
ABCD1
(Q177*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
ABCD1
(A205E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCD1
(D221A)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ABCD1
(R236H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ABCD1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCD1
(G266R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ABCD1
(Y296H)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ABCD1
(Y296S)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ABCD1
(Y296C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
ABCD1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
ABCD1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
ABCD1
(E359fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
ABCD1
(K373del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
ABCD1
(R389H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ABCD1
(R401G)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ABCD1
(I402fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ABCD1
(R418W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ABCD1
(Q430*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
ABCD1
(Q466*)
Single nucleotide variant
(nonsense)
Adrenoleukodystrophy
+1 more
GPathogenic
ABCD1
(Q472fs)
Deletion
(frameshift variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ABCD1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
ABCD1
Deletion
(intron variant)
not specified
+2 more
GBenign/Likely benign
ABCD1
(T506P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCD1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
ABCD1
(R518W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ABCD1
(R518Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCD1
(G529D)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ABCD1
(P543L)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
+1 more
GPathogenic/Likely pathogenic
ABCD1
(R554S)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ABCD1
(R554H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
ABCD1
(P560L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ABCD1
(R591W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ABCD1
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
ABCD1
(M598V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCD1
(W601*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
ABCD1
(S606L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
ABCD1
Single nucleotide variant
(synonymous variant)
ABCD1-related condition
+3 more
GConflicting classifications of pathogenicity
ABCD1
(E609K)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ABCD1
(R617H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
ABCD1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+5 more
GPathogenic/Likely pathogenic
ABCD1
(A634T)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
+2 more
GConflicting classifications of pathogenicity
ABCD1
(V635A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCD1
(D638H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ABCD1
(I652N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCD1
(L663P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCD1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCD1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ABCD1
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCD1
(H669fs)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
ABCD1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
ABCD1
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
ABCD1
Single nucleotide variant
(3 prime UTR variant)
History of neurodevelopmental disorder
+3 more
GBenign
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