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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC106694316, MPO
(R569W)
Single nucleotide variant
(missense variant)
Myeloperoxidase deficiency
+3 more
GPathogenic/Likely pathogenic
LOC106694316, MPO
(M519fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
LOC106694316, MPO
(R499C)
Single nucleotide variant
(missense variant)
MPO-related disorder
GLikely pathogenic
LOC106694316, MPO
Single nucleotide variant
(synonymous variant)
MPO-related disorder
GLikely benign
LOC106694316, MPO
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
MPO, LOC106694316
(R460Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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