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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HMBS
(E162fs +1 more)
Deletion
(frameshift variant)
Abnormal circulating porphyrin concentration
GPathogenic
ABCG4, ACRV1
+169 more
Deletion
Neurodevelopmental delay
+7 more
GLikely pathogenic