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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EDNRB, EDNRB-AS1
(G429R +1 more)
Single nucleotide variant
(intron variant +1 more)
not provided
+7 more
GUncertain significance
EDNRB, EDNRB-AS1
(W404* +1 more)
Single nucleotide variant
(nonsense +1 more)
ABCD syndrome
+3 more
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
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