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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCC6
Deletion
(splice acceptor variant)
Pseudoxanthoma elasticum, forme fruste
+2 more
GPathogenic
ABCC6
(I387F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance