U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 126

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
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
Single nucleotide variant
(3 prime UTR variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
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)
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
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
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
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
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
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
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
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
Single nucleotide variant
(synonymous variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GBenign
MOCS1
Single nucleotide variant
(3 prime UTR variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GConflicting classifications of pathogenicity
MOCS1
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+2 more
GBenign/Likely benign
MOCS1
(R485H +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GBenign/Likely benign
MOCS1
(R556C +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
(Q476E +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+2 more
GUncertain significance
MOCS1
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MOCS1
(A527E +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
+1 more
GConflicting classifications of pathogenicity
MOCS1
(W380* +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
(D456V +2 more)
Single nucleotide variant
(missense variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Single nucleotide variant
(synonymous variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GConflicting classifications of pathogenicity
MOCS1
(R365L +2 more)
Single nucleotide variant
(missense variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
+1 more
GBenign
MOCS1
(R352Q +2 more)
Single nucleotide variant
(missense variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GBenign
MOCS1
(R439W +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
(R412G +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
(G409D +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
GBenign
MOCS1
(P317L +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
(P303H +2 more)
Single nucleotide variant
(missense variant +2 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GBenign
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
(R291G +1 more)
Single nucleotide variant
(missense variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
Deletion
(splice donor variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
(H279Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
(I355T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
MOCS1
(R343Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
(R339W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
MOCS1
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GConflicting classifications of pathogenicity
MOCS1
(K203Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
(E285K +1 more)
Single nucleotide variant
(missense variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
+3 more
GConflicting classifications of pathogenicity
MOCS1
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
+1 more
GConflicting classifications of pathogenicity
MOCS1
Single nucleotide variant
(synonymous variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GUncertain significance
MOCS1
(L239H +1 more)
Single nucleotide variant
(missense variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
+1 more
GBenign
MOCS1
(T149I +1 more)
Single nucleotide variant
(missense variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
+1 more
GUncertain significance
MOCS1
(A233V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
MOCS1
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
+1 more
GBenign
MOCS1
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination