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Items: 1 to 100 of 695

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HCG26, HCG27
+2581 more
Copy number gain
See cases
GPathogenic
AARS2, ABCC10
+435 more
Copy number loss
See cases
GPathogenic
DAAM2, DAAM2-AS1
+23 more
Copy number gain
See cases
GLikely benign
DAAM2, MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
DAAM2, MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
DAAM2, MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
DAAM2, MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GBenign
DAAM2, MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GLikely benign
DAAM2, MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GLikely benign
DAAM2, MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GBenign
DAAM2, MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
DAAM2, MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
DAAM2, MOCS1
Duplication
(3 prime UTR variant +1 more)
Combined molybdoflavoprotein enzyme deficiency
GUncertain significance
DAAM2, MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
DAAM2, MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
DAAM2, MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
DAAM2, MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
DAAM2, MOCS1
Duplication
(3 prime UTR variant +1 more)
Combined molybdoflavoprotein enzyme deficiency
GBenign
DAAM2, MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
DAAM2, MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Combined molybdoflavoprotein enzyme deficiency
GUncertain significance
DAAM2, MOCS1
Microsatellite
(3 prime UTR variant +1 more)
Combined molybdoflavoprotein enzyme deficiency
GUncertain significance
DAAM2, MOCS1
Microsatellite
(3 prime UTR variant +1 more)
Combined molybdoflavoprotein enzyme deficiency
GLikely benign
MOCS1, DAAM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GLikely benign
DAAM2, MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GBenign
DAAM2, MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
DAAM2, MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Combined molybdoflavoprotein enzyme deficiency
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GLikely benign
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GBenign
MOCS1
Duplication
(3 prime UTR variant +1 more)
Combined molybdoflavoprotein enzyme deficiency
GLikely benign
MOCS1
Duplication
(3 prime UTR variant +1 more)
Combined molybdoflavoprotein enzyme deficiency
GLikely benign
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GBenign
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GBenign
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GBenign
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Duplication
(3 prime UTR variant +1 more)
Combined molybdoflavoprotein enzyme deficiency
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GBenign
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GLikely benign
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GBenign
MOCS1
Microsatellite
(3 prime UTR variant +1 more)
Combined molybdoflavoprotein enzyme deficiency
GUncertain significance
MOCS1
Microsatellite
(3 prime UTR variant +1 more)
Combined molybdoflavoprotein enzyme deficiency
GLikely benign
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GLikely benign
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GBenign
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Duplication
(3 prime UTR variant +1 more)
Combined molybdoflavoprotein enzyme deficiency
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Duplication
(3 prime UTR variant +1 more)
Combined molybdoflavoprotein enzyme deficiency
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GBenign
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GBenign
MOCS1
Microsatellite
(3 prime UTR variant +1 more)
Combined molybdoflavoprotein enzyme deficiency
GLikely benign
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GBenign
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Combined molybdoflavoprotein enzyme deficiency
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GBenign
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GLikely benign
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GLikely benign
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
(A620V +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
(R548Q +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
(D632fs +2 more)
Duplication
(3 prime UTR variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
(D616N +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
(G615R +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
(R614Q +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
(R543P +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GUncertain significance
MOCS1
(R543W +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Microsatellite
(3 prime UTR variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GLikely benign
MOCS1
(I536T +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
(K534fs +2 more)
Duplication
(3 prime UTR variant +2 more)
not specified
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GLikely benign
MOCS1
(E532del +2 more)
Microsatellite
(3 prime UTR variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GLikely benign
MOCS1
(E602G +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GLikely benign
MOCS1
Single nucleotide variant
(3 prime UTR variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GLikely benign
MOCS1
(C592Y +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
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