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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SDHA
(R512* +1 more)
Single nucleotide variant
(nonsense)
Hereditary pheochromocytoma-paraganglioma
+6 more
GPathogenic/Likely pathogenic
SCNN1B
(L501F +1 more)
Single nucleotide variant
(missense variant)
Opsoclonus-myoclonus syndrome
GLikely pathogenic