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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HMBS
(I37L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HMBS
(E225K +1 more)
Single nucleotide variant
(missense variant +1 more)
Acute intermittent porphyria
+1 more
GUncertain significance
HMBS
(R229H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
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