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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCD1
(N148D)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GPathogenic/Likely pathogenic
ABCD1
(V222M)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 2B
+1 more
GUncertain significance
ABCD1
(R234C)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
+2 more
GUncertain significance
ABCD1
(S284L)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
+1 more
GConflicting classifications of pathogenicity
ABCD1
Single nucleotide variant
(splice acceptor variant)
Adrenoleukodystrophy
GLikely pathogenic
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