U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 481

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CP
Single nucleotide variant
(intron variant)
Deficiency of ferroxidase
GPathogenic
CP
Deletion
(frameshift variant +1 more)
Deficiency of ferroxidase
GPathogenic
HPS3, CP
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of ferroxidase
GLikely benign
CP
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of ferroxidase
GLikely benign
CP
Single nucleotide variant
(non-coding transcript variant +1 more)
Deficiency of ferroxidase
GLikely benign
CP
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of ferroxidase
GLikely benign
CP
(T841fs)
Deletion
(frameshift variant +1 more)
Deficiency of ferroxidase
GPathogenic
CP
(Q717*)
Single nucleotide variant
(nonsense +1 more)
Deficiency of ferroxidase
GPathogenic
CP
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of ferroxidase
GLikely benign
CP
(V739L)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
Single nucleotide variant
(intron variant)
Deficiency of ferroxidase
GLikely benign
CP
Single nucleotide variant
(intron variant)
Deficiency of ferroxidase
GLikely benign
CP
(K369fs)
Deletion
(frameshift variant +1 more)
Deficiency of ferroxidase
GPathogenic
CP
Single nucleotide variant
(intron variant)
Deficiency of ferroxidase
GLikely benign
CP
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of ferroxidase
GLikely benign
CP
(S360Y)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
Deletion
(splice acceptor variant)
Deficiency of ferroxidase
GLikely pathogenic
CP
(S361P)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
Single nucleotide variant
(intron variant)
Deficiency of ferroxidase
GLikely benign
CP
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of ferroxidase
GLikely benign
CP
(C900R)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
Single nucleotide variant
(intron variant)
Deficiency of ferroxidase
+1 more
GLikely benign
CP
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of ferroxidase
GLikely benign
CP
Single nucleotide variant
(intron variant)
Deficiency of ferroxidase
GLikely benign
CP
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of ferroxidase
GLikely benign
CP
Single nucleotide variant
(synonymous variant)
Deficiency of ferroxidase
GLikely benign
CP
(D249A)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GLikely benign
CP
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of ferroxidase
GLikely benign
CP
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of ferroxidase
+1 more
GLikely benign
CP
(T664fs)
Microsatellite
(frameshift variant)
CP-related condition
+1 more
GPathogenic
CP
(V1010I)
Single nucleotide variant
(missense variant)
Deficiency of ferroxidase
GUncertain significance
CP
(I390T)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
Microsatellite
(intron variant)
Deficiency of ferroxidase
GLikely benign
CP
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of ferroxidase
GLikely benign
CP
(H445Y)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
+1 more
GUncertain significance
CP
(R436*)
Single nucleotide variant
(nonsense +1 more)
Deficiency of ferroxidase
GPathogenic
CP
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of ferroxidase
GLikely benign
CP
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of ferroxidase
GLikely benign
CP
(D146E)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of ferroxidase
GLikely benign
CP
Single nucleotide variant
(intron variant)
Deficiency of ferroxidase
GLikely benign
CP
Single nucleotide variant
(intron variant)
Deficiency of ferroxidase
GLikely benign
CP
(R671Q)
Single nucleotide variant
(missense variant)
Deficiency of ferroxidase
GUncertain significance
CP
(L914R)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of ferroxidase
GLikely benign
CP
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of ferroxidase
GLikely benign
CP
(Y983H)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
Single nucleotide variant
(intron variant)
Deficiency of ferroxidase
GLikely benign
CP
(W743G)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
(V783M)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
(P318S)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
(D61Y)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
Single nucleotide variant
(intron variant)
Deficiency of ferroxidase
GLikely benign
CP
(L93I)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
Single nucleotide variant
(intron variant)
Deficiency of ferroxidase
GLikely benign
CP
(H39Q)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
+1 more
GUncertain significance
CP
(H130Q)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
+1 more
GConflicting classifications of pathogenicity
CP
(I84V)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
Single nucleotide variant
(intron variant)
Deficiency of ferroxidase
GLikely benign
CP
Single nucleotide variant
(intron variant)
Deficiency of ferroxidase
GLikely benign
CP
(R793C)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
Single nucleotide variant
(synonymous variant)
Deficiency of ferroxidase
GLikely benign
CP
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of ferroxidase
GLikely benign
CP
Single nucleotide variant
(intron variant)
Deficiency of ferroxidase
GConflicting classifications of pathogenicity
CP
(P401S)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
(F550I)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of ferroxidase
GLikely benign
CP
(C1040R)
Single nucleotide variant
(missense variant)
Deficiency of ferroxidase
GUncertain significance
CP
(N467K)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
Single nucleotide variant
(synonymous variant)
Deficiency of ferroxidase
GLikely benign
CP
Insertion
(intron variant)
Deficiency of ferroxidase
GLikely benign
CP
Single nucleotide variant
(synonymous variant)
Deficiency of ferroxidase
GLikely benign
CP
(K781T)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
(P876S)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
(L993S)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
(H686Y)
Single nucleotide variant
(missense variant)
Deficiency of ferroxidase
GUncertain significance
CP
Single nucleotide variant
(intron variant)
Deficiency of ferroxidase
GUncertain significance
CP
(E803Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
CP
(S14G)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GLikely benign
CP
(L914Q)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
Deletion
(inframe_deletion)
Deficiency of ferroxidase
GUncertain significance
CP
(K944R)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
Single nucleotide variant
(intron variant)
Deficiency of ferroxidase
GLikely benign
CP
(T684M)
Single nucleotide variant
(missense variant)
Deficiency of ferroxidase
GUncertain significance
CP
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of ferroxidase
GLikely benign
CP
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of ferroxidase
GLikely benign
CP
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of ferroxidase
GBenign
CP
(R911I)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
(T583I)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
+1 more
GUncertain significance
CP
(R671W)
Single nucleotide variant
(missense variant)
Deficiency of ferroxidase
GLikely benign
CP
(E226D)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
Duplication
(intron variant)
Deficiency of ferroxidase
GBenign
CP
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of ferroxidase
GLikely benign
CP
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of ferroxidase
GLikely benign
CP
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of ferroxidase
GLikely benign
CP
(N340S)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
Single nucleotide variant
(intron variant)
Deficiency of ferroxidase
GUncertain significance
CP
Single nucleotide variant
(intron variant)
Deficiency of ferroxidase
GUncertain significance
CP
(E954K)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
CP
(K799Q)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
GUncertain significance
Format
Items per page
Sort by
Choose Destination