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Links from MedGen

Items: 77

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HFE
(F146I +9 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 1
GUncertain significance
HFE
Single nucleotide variant
(splice donor variant +1 more)
Hemochromatosis type 1
GLikely pathogenic
HFE, HFE-AS1
(V45M +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hemochromatosis type 1
GUncertain significance
HFE, HFE-AS1
(R43C +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hemochromatosis type 1
+2 more
GUncertain significance
HFE
(Y125del +8 more)
Microsatellite
(inframe_indel +2 more)
Hemochromatosis type 1
GLikely pathogenic
HFE
(K143E +2 more)
Single nucleotide variant
(missense variant +1 more)
Hemochromatosis type 1
+2 more
GUncertain significance
HFE, HFE-AS1
(S65C +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hemochromatosis type 1
GLikely pathogenic
HFE
Single nucleotide variant
(intron variant)
Hereditary hemochromatosis
+2 more
GBenign
HFE, HFE-AS1
(R48* +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hereditary hemochromatosis
+1 more
GPathogenic
HFE
(H161fs +9 more)
Deletion
(frameshift variant +1 more)
Hemochromatosis type 1
+1 more
GPathogenic
HFE
Single nucleotide variant
(splice donor variant)
Variegate porphyria
+7 more
GPathogenic/Likely pathogenic
HFE
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 1
GUncertain significance
HFE
(R122W +8 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary hemochromatosis
+2 more
GUncertain significance
HFE, HFE-AS1
(L14V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary hemochromatosis
+2 more
GUncertain significance
HFE
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 1
GUncertain significance
HFE
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 1
GUncertain significance
HFE
Single nucleotide variant
(3 prime UTR variant)
Variegate porphyria
+5 more
GUncertain significance
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hemochromatosis type 1
+1 more
GConflicting classifications of pathogenicity
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant)
Hemochromatosis type 1
GBenign
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant)
Hemochromatosis type 1
GUncertain significance
HFE
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 1
GUncertain significance
HFE
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 1
GUncertain significance
HFE
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 1
GUncertain significance
HFE
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 1
GUncertain significance
HFE
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 1
GUncertain significance
HFE
Single nucleotide variant
(3 prime UTR variant)
Variegate porphyria
+5 more
GUncertain significance
HFE
Single nucleotide variant
(3 prime UTR variant +1 more)
Hemochromatosis type 1
GUncertain significance
HFE
Single nucleotide variant
(3 prime UTR variant +1 more)
Hemochromatosis type 1
GUncertain significance
HFE
Single nucleotide variant
(intron variant)
Hemochromatosis type 1
+1 more
GConflicting classifications of pathogenicity
LOC113687175, TFR2
(R530* +1 more)
Single nucleotide variant
(nonsense)
Hereditary hemochromatosis
+2 more
GPathogenic/Likely pathogenic
SLC40A1
(A232D)
Single nucleotide variant
(missense variant)
Hemochromatosis type 1
+1 more
GUncertain significance
HFE, HFE-AS1
Indel
(non-coding transcript variant +2 more)
Hemochromatosis type 1
GLikely pathogenic
HFE
(R226W +8 more)
Single nucleotide variant
(missense variant +1 more)
Hemochromatosis type 1
+5 more
GUncertain significance
TFR2
(G373D +1 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 3
+3 more
GUncertain significance
HFE
(V295A +8 more)
Single nucleotide variant
(missense variant +1 more)
Hemochromatosis type 1
+2 more
GConflicting classifications of pathogenicity
HFE
(V256I +8 more)
Single nucleotide variant
(missense variant +1 more)
Variegate porphyria
+6 more
GUncertain significance
HFE, HFE-AS1
(T17I)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hemochromatosis type 1
+1 more
GUncertain significance
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hemochromatosis type 1
+3 more
GConflicting classifications of pathogenicity
HFE
(L183fs +2 more)
Deletion
(frameshift variant +1 more)
Alzheimer disease type 1
+6 more
GPathogenic/Likely pathogenic
HFE
(E298* +8 more)
Single nucleotide variant
(nonsense +1 more)
Hemochromatosis type 1
+1 more
GPathogenic/Likely pathogenic
HFE
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 1
+1 more
GConflicting classifications of pathogenicity
HFE
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 1
+1 more
GConflicting classifications of pathogenicity
HFE
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 1
GUncertain significance
HFE
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 1
GUncertain significance
HFE
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 1
GUncertain significance
HFE
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 1
GUncertain significance
HFE
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 1
GUncertain significance
HFE
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 1
GUncertain significance
HFE
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 1
GUncertain significance
HFE
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 1
GUncertain significance
HFE
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 1
GUncertain significance
HFE
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 1
GUncertain significance
HFE
Single nucleotide variant
(3 prime UTR variant +1 more)
Hemochromatosis type 1
GUncertain significance
HFE
(E277K +8 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary hemochromatosis
+2 more
GConflicting classifications of pathogenicity
HFE
(T236I +8 more)
Single nucleotide variant
(missense variant +1 more)
Hemochromatosis type 1
GUncertain significance
HFE, HFE-AS1
(R23H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hemochromatosis type 1
+2 more
GConflicting classifications of pathogenicity
HFE
Single nucleotide variant
(synonymous variant +1 more)
Hemochromatosis type 1
+2 more
GConflicting classifications of pathogenicity
HFE
(E168Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Hemochromatosis type 1
+7 more
GUncertain significance
HFE, HFE-AS1
(R67L +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hemochromatosis type 1
GUncertain significance
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +2 more)
Hemochromatosis type 1
+2 more
GBenign/Likely benign
HFE, HFE-AS1
(R6S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Alzheimer disease type 1
+7 more
GUncertain significance
HFE
(W169* +2 more)
Single nucleotide variant
(nonsense +1 more)
Hemochromatosis type 1
Gnot provided
HFE
Single nucleotide variant
(intron variant)
Hereditary hemochromatosis
+3 more
GBenign/Likely benign
HFE
(E168* +2 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary hemochromatosis
GPathogenic
HAMP
(G71D)
Single nucleotide variant
(missense variant)
Hemochromatosis type 1
+4 more
GBenign/Likely benign
HJV
(C321* +2 more)
Single nucleotide variant
(nonsense)
Hemochromatosis type 2A
+1 more
GPathogenic
HJV
(G320V +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
HFE
(Q283P +8 more)
Single nucleotide variant
(missense variant +1 more)
Hemochromatosis type 1
+2 more
GPathogenic/Likely pathogenic
HFE
(R330M +9 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 1
GPathogenic
HFE
(Q127H +2 more)
Single nucleotide variant
(missense variant +1 more)
Hemochromatosis type 1
GPathogenic
HFE, HFE-AS1
(V59M +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
+1 more
GUncertain significance
HFE, HFE-AS1
(V53M +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hemochromatosis type 1
GUncertain significance
HFE
(G93R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hemochromatosis type 1
GPathogenic
HFE
(I105T +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary hemochromatosis
GUncertain significance
HFE, HFE-AS1
(S65C +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hemochromatosis type 1
+10 more
GConflicting classifications of pathogenicity
HFE, HFE-AS1
(H63D +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hemochromatosis type 1
+9 more
GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other
HFE
(C282Y +8 more)
Single nucleotide variant
(missense variant +1 more)
Hemochromatosis type 1
+19 more
GPathogenic/Pathogenic, low penetrance; other; risk factor
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