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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCD1
(N13T)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
ABCD1
(L253V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
ABCD1
(R389H)
Single nucleotide variant
(missense variant)
ABCD1-related disorder
+2 more
GPathogenic/Likely pathogenic
ABCD1
(E421K)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GConflicting classifications of pathogenicity
ABCD1
(A445V)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GLikely benign
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