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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCD1
(T14R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ABCD1
(G92R)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
+2 more
GUncertain significance
ABCD1
(R113H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ABCD1
(L215P)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GConflicting classifications of pathogenicity
ABCD1
(R280C)
Single nucleotide variant
(missense variant)
ABCD1-related disorder
+3 more
GPathogenic/Likely pathogenic
ABCD1
(H299R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ABCD1
Single nucleotide variant
(intron variant)
Adrenoleukodystrophy
+1 more
GBenign/Likely benign
ABCD1
(Q430*)
Single nucleotide variant
(nonsense)
Adrenoleukodystrophy
+1 more
GPathogenic
ABCD1
Deletion
(intron variant)
not provided
+2 more
GBenign/Likely benign
ABCD1
(G512S)
Single nucleotide variant
(missense variant)
ABCD1-related disorder
+2 more
GPathogenic/Likely pathogenic
ABCD1
(G528S)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
+1 more
GConflicting classifications of pathogenicity
ABCD1
(K533Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
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