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Links from MedGen

Items: 1 to 100 of 156

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FTL
Single nucleotide variant
(5 prime UTR variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
(G163D)
Single nucleotide variant
(missense variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
Duplication
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
(E131K)
Single nucleotide variant
(missense variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
Single nucleotide variant
(5 prime UTR variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
Single nucleotide variant
(synonymous variant)
Neuroferritinopathy
+1 more
GLikely benign
FTL, LOC130064891
Single nucleotide variant
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
Single nucleotide variant
(synonymous variant)
Neuroferritinopathy
+1 more
GLikely benign
FTL
Single nucleotide variant
(intron variant)
Neuroferritinopathy
+1 more
GLikely benign
FTL
Single nucleotide variant
(intron variant)
Hereditary hyperferritinemia with congenital cataracts
+2 more
GLikely benign
FTL
Single nucleotide variant
(5 prime UTR variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
(A77T)
Single nucleotide variant
(missense variant)
Neuroferritinopathy
+1 more
GUncertain significance
FTL
Single nucleotide variant
(5 prime UTR variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
Single nucleotide variant
(synonymous variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
Single nucleotide variant
(intron variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GLikely benign
FTL
Single nucleotide variant
(5 prime UTR variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
Single nucleotide variant
(intron variant)
Neuroferritinopathy
+1 more
GLikely benign
FTL
Single nucleotide variant
(5 prime UTR variant)
Neuroferritinopathy
+1 more
GUncertain significance
FTL
Single nucleotide variant
Neuroferritinopathy
+1 more
GUncertain significance
FTL, GYS1
Deletion
Neuroferritinopathy
+1 more
GUncertain significance
FTL
Single nucleotide variant
(synonymous variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GLikely benign
FTL
Single nucleotide variant
(5 prime UTR variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GPathogenic
FTL
Single nucleotide variant
(synonymous variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GLikely benign
FTL
(Y63*)
Single nucleotide variant
(nonsense)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
(P85S)
Single nucleotide variant
(missense variant)
Neuroferritinopathy
+1 more
GUncertain significance
FTL
Single nucleotide variant
(synonymous variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
Single nucleotide variant
(intron variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
Single nucleotide variant
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
Single nucleotide variant
(5 prime UTR variant)
Neuroferritinopathy
+1 more
GUncertain significance
FTL
(L172fs)
Microsatellite
(frameshift variant)
Neuroferritinopathy
+1 more
GUncertain significance
FTL
Single nucleotide variant
(5 prime UTR variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL, LOC130064892
(Y24F)
Single nucleotide variant
(missense variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
Single nucleotide variant
(5 prime UTR variant)
Neuroferritinopathy
+1 more
GUncertain significance
FTL
Single nucleotide variant
(synonymous variant)
Neuroferritinopathy
+1 more
GLikely benign
FTL
(R154fs)
Indel
(frameshift variant)
Neuroferritinopathy
+1 more
GPathogenic
FTL
Single nucleotide variant
(5 prime UTR variant)
Neuroferritinopathy
+1 more
GLikely benign
FTL
Single nucleotide variant
(synonymous variant)
Neuroferritinopathy
+1 more
GLikely benign
FTL, LOC130064891
Single nucleotide variant
Neuroferritinopathy
+1 more
GUncertain significance
FTL
Single nucleotide variant
(5 prime UTR variant)
Neuroferritinopathy
+1 more
GUncertain significance
FTL
Single nucleotide variant
(intron variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GLikely benign
FTL
Single nucleotide variant
(5 prime UTR variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
Single nucleotide variant
(synonymous variant)
Neuroferritinopathy
+1 more
GLikely benign
FTL
(G91C)
Single nucleotide variant
(missense variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
Single nucleotide variant
(5 prime UTR variant)
Neuroferritinopathy
+1 more
GUncertain significance
FTL
Single nucleotide variant
(synonymous variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GLikely benign
FTL
(R154fs)
Duplication
(frameshift variant)
Neuroferritinopathy
+1 more
GPathogenic
FTL
(H148fs)
Duplication
(frameshift variant)
Neuroferritinopathy
Gnot provided
FTL
(H148fs)
Duplication
(frameshift variant)
Neuroferritinopathy
Gnot provided
FTL
Single nucleotide variant
(5 prime UTR variant)
Neuroferritinopathy
+2 more
GPathogenic/Likely pathogenic
FTL
(E104G)
Single nucleotide variant
(missense variant)
Neuroferritinopathy
+2 more
GUncertain significance
FTL
Single nucleotide variant
(synonymous variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GLikely benign
FTL
Single nucleotide variant
(intron variant)
Neuroferritinopathy
+1 more
GLikely benign
FTL
Single nucleotide variant
(synonymous variant)
Neuroferritinopathy
+1 more
GLikely benign
FTL
Deletion
Neuroferritinopathy
+1 more
GLikely benign
FTL
Single nucleotide variant
(intron variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GLikely benign
FTL
Single nucleotide variant
(5 prime UTR variant)
Neuroferritinopathy
+1 more
GBenign
FTL, LOC130064892
Single nucleotide variant
(synonymous variant)
Neuroferritinopathy
+1 more
GLikely benign
FTL
Single nucleotide variant
(5 prime UTR variant)
Neuroferritinopathy
+1 more
GUncertain significance
FTL
(G47R)
Single nucleotide variant
(missense variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
(D88G)
Single nucleotide variant
(missense variant)
Neuroferritinopathy
+1 more
GUncertain significance
FTL
(C127R)
Single nucleotide variant
(missense variant)
Neuroferritinopathy
+1 more
GUncertain significance
FTL
(F38S)
Single nucleotide variant
(missense variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
Single nucleotide variant
(5 prime UTR variant)
Neuroferritinopathy
+1 more
GUncertain significance
FTL
Single nucleotide variant
(intron variant)
Neuroferritinopathy
+1 more
GUncertain significance
FTL
(R73L)
Single nucleotide variant
(missense variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
Single nucleotide variant
(5 prime UTR variant)
Neuroferritinopathy
+1 more
GUncertain significance
FTL, LOC130064891
Single nucleotide variant
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
(D42N)
Single nucleotide variant
(missense variant)
Neuroferritinopathy
+1 more
GUncertain significance
FTL
(E164D)
Single nucleotide variant
(missense variant)
Neuroferritinopathy
+1 more
GUncertain significance
FTL, LOC130064891
Single nucleotide variant
Neuroferritinopathy
+1 more
GUncertain significance
FTL
Single nucleotide variant
(5 prime UTR variant)
Neuroferritinopathy
+1 more
GUncertain significance
FTL
Single nucleotide variant
(5 prime UTR variant)
Neuroferritinopathy
+1 more
GUncertain significance
FTL
Single nucleotide variant
(5 prime UTR variant)
FTL-related disorder
+2 more
GUncertain significance
FTL
Single nucleotide variant
(5 prime UTR variant)
Neuroferritinopathy
+1 more
GUncertain significance
FTL
Single nucleotide variant
(intron variant)
Neuroferritinopathy
+1 more
GUncertain significance
FTL
(A86P)
Single nucleotide variant
(missense variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
Duplication
(5 prime UTR variant)
Neuroferritinopathy
+1 more
GUncertain significance
FTL
(K83E)
Single nucleotide variant
(missense variant)
Neuroferritinopathy
+1 more
GUncertain significance
FTL
(D175Y)
Single nucleotide variant
(missense variant)
Neuroferritinopathy
+1 more
GUncertain significance
FTL
(R6H)
Single nucleotide variant
(missense variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
Single nucleotide variant
(5 prime UTR variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
Single nucleotide variant
(5 prime UTR variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
(G47C)
Single nucleotide variant
(missense variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
(E164fs)
Microsatellite
(frameshift variant)
Neuroferritinopathy
GPathogenic/Likely pathogenic
FTL
Single nucleotide variant
(5 prime UTR variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
Single nucleotide variant
(5 prime UTR variant)
Neuroferritinopathy
+1 more
GLikely pathogenic
FTL
(F52C)
Single nucleotide variant
(missense variant)
Neuroferritinopathy
+2 more
GConflicting classifications of pathogenicity
FTL
(R60C)
Single nucleotide variant
(missense variant)
Neuroferritinopathy
+1 more
GUncertain significance
FTL
(P158L)
Single nucleotide variant
(missense variant)
Neuroferritinopathy
+1 more
GUncertain significance
FTL
Single nucleotide variant
(5 prime UTR variant)
Neuroferritinopathy
+1 more
GUncertain significance
FTL
(E87D)
Single nucleotide variant
(missense variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
Single nucleotide variant
(5 prime UTR variant)
Neuroferritinopathy
+1 more
GPathogenic
FTL
(M101T)
Single nucleotide variant
(missense variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
(G156S)
Single nucleotide variant
(missense variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
(Q4H)
Single nucleotide variant
(missense variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
Single nucleotide variant
(intron variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GBenign
FTL
Single nucleotide variant
(intron variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GConflicting classifications of pathogenicity
FTL
Single nucleotide variant
(3 prime UTR variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
Single nucleotide variant
(5 prime UTR variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
FTL
Single nucleotide variant
(5 prime UTR variant)
Hereditary hyperferritinemia with congenital cataracts
+1 more
GUncertain significance
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