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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MOCS2
(T175A)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MOCS2
(I110V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MOCS2
(N81Y)
Single nucleotide variant
(missense variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
+2 more
GUncertain significance
MOCS2
(E52D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MOCS2
(E25G)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MOCS2
(E78K)
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GUncertain significance
MOCS2
(V72M)
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MOCS2
(L71F)
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
GUncertain significance
MOCS2
(E65K)
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
MOCS2
(R60C)
Single nucleotide variant
(5 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
+2 more
GConflicting classifications of pathogenicity
MOCS2
(A34V)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
MOCS2
(T19R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
MOCS2
(V7A)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC129993881, MOCS2
(P3S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
+2 more
GUncertain significance
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