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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MOCS1
(G384S +3 more)
Single nucleotide variant
(missense variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GConflicting classifications of pathogenicity
MOCS1
(N130Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
(A174T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
MOCS1
(P133L +1 more)
Single nucleotide variant
(missense variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
(R51L)
Single nucleotide variant
(missense variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
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