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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPHN
(T9S)
Single nucleotide variant
(missense variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
+3 more
GBenign/Likely benign
GPHN
(N267S)
Single nucleotide variant
(missense variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
+5 more
GBenign/Likely benign