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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HMBS
(R178H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HMBS
(Q187fs +1 more)
Duplication
(frameshift variant)
Acute intermittent porphyria
GLikely pathogenic