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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCD1
(R85fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ABCD1
(L160P)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GConflicting classifications of pathogenicity
ABCD1
(Y174C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
ABCD1
(S176T)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GUncertain significance
ABCD1
(R189W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
ABCD1
(P218L)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
+1 more
GConflicting classifications of pathogenicity
ABCD1
(V224G)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GUncertain significance
ABCD1
(R280H)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
+2 more
GConflicting classifications of pathogenicity
ABCD1
(H283P)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GConflicting classifications of pathogenicity
ABCD1
(E359fs)
Duplication
(frameshift variant)
Adrenoleukodystrophy
GPathogenic
ABCD1
(E421K)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GConflicting classifications of pathogenicity
ABCD1
(Q472fs)
Deletion
(frameshift variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCD1
(G512S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ABCD1
(W595*)
Single nucleotide variant
(nonsense)
Adrenoleukodystrophy
GPathogenic
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