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Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CP
Single nucleotide variant
(splice acceptor variant)
Deficiency of ferroxidase
GPathogenic
CP
(H997Q)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
Gnot provided
CP
(G988S)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
Gnot provided
CP
(M985V)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GPathogenic
CP
(T973fs)
Duplication
(frameshift variant +1 more)
Deficiency of ferroxidase
GPathogenic
CP
Single nucleotide variant
(splice acceptor variant)
Deficiency of ferroxidase
GPathogenic
CP
(R901*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
CP
(L897fs)
Deletion
(frameshift variant +1 more)
Deficiency of ferroxidase
GPathogenic
CP
(G895A)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
CP
(G892E)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GPathogenic
CP
(W877*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
CP
(G868fs)
Deletion
(frameshift variant +1 more)
Deficiency of ferroxidase
GPathogenic
CP
Single nucleotide variant
(splice donor variant)
Deficiency of ferroxidase
GPathogenic
CP
(G838fs)
Duplication
(frameshift variant +1 more)
Deficiency of ferroxidase
GPathogenic
CP
(A828fs)
Deletion
(frameshift variant +1 more)
Deficiency of ferroxidase
GPathogenic
CP
(E797fs)
Deletion
(frameshift variant +1 more)
Deficiency of ferroxidase
+1 more
GPathogenic
CP
(L729fs)
Deletion
(frameshift variant +1 more)
Deficiency of ferroxidase
GPathogenic
CP
(R720W)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CP
(Q711K)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GPathogenic
CP
(D690fs)
Deletion
(frameshift variant)
Deficiency of ferroxidase
GPathogenic
CP
(P689fs)
Deletion
(frameshift variant)
Neurodegeneration with brain iron accumulation
+2 more
GPathogenic/Likely pathogenic
CP
(D640fs)
Deletion
(frameshift variant)
Deficiency of ferroxidase
GPathogenic
CP
(G625E)
Single nucleotide variant
(missense variant)
Deficiency of ferroxidase
GPathogenic
CP
Single nucleotide variant
(splice acceptor variant)
Deficiency of ferroxidase
GPathogenic
CP
(T551I)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
CP
(D430fs)
Duplication
(frameshift variant +1 more)
Deficiency of ferroxidase
GPathogenic
CP
Deletion
(frameshift variant +1 more)
Deficiency of ferroxidase
GPathogenic
CP
Duplication
Deficiency of ferroxidase
GPathogenic
CP
Single nucleotide variant
(splice acceptor variant)
Deficiency of ferroxidase
GPathogenic
CP
(Y375H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CP
(A350D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CP
(W283S)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GLikely pathogenic
CP
(F217S)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GPathogenic
CP
(R215*)
Single nucleotide variant
(nonsense +1 more)
Deficiency of ferroxidase
GPathogenic
CP
Single nucleotide variant
(splice donor variant)
Deficiency of ferroxidase
GPathogenic
CP
(D203fs)
Duplication
(frameshift variant +1 more)
Deficiency of ferroxidase
GPathogenic
CP
(P196R)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GPathogenic
CP
(I183T)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
(Q165E)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GPathogenic
CP
Single nucleotide variant
(splice acceptor variant)
Deficiency of ferroxidase
GPathogenic
CP
(D77H)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
CP
Single nucleotide variant
(splice donor variant)
Deficiency of ferroxidase
GPathogenic
CP
(I28F)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
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