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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCD3
(W235*)
Single nucleotide variant
(nonsense +1 more)
Congenital bile acid synthesis defect 5
GLikely benign
ABCD3
Single nucleotide variant
(intron variant)
Congenital bile acid synthesis defect 5
GBenign
ABCD3
(G52V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
ABCD3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
ABCD3
Deletion
(splice acceptor variant)
Congenital bile acid synthesis defect 5
GPathogenic
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