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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MPO
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
LPO, MPO
Single nucleotide variant
(splice acceptor variant)
not provided
+3 more
GConflicting classifications of pathogenicity
LOC106694316, MPO
(R569W)
Single nucleotide variant
(missense variant)
Alzheimer disease type 1
+2 more
GPathogenic/Likely pathogenic
MPO
(E202*)
Single nucleotide variant
(nonsense)
Alzheimer disease type 1
+2 more
GConflicting classifications of pathogenicity
LOC106694315, MPO
Single nucleotide variant
(splice acceptor variant)
Myeloperoxidase deficiency
+1 more
GLikely pathogenic
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