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Links from MedGen

Items: 1 to 100 of 218

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TFR2
(W265* +1 more)
Single nucleotide variant
(nonsense)
Hemochromatosis type 3
GLikely pathogenic
TFR2
(G243* +1 more)
Single nucleotide variant
(nonsense)
Hemochromatosis type 3
GLikely pathogenic
TFR2
(R252fs +1 more)
Indel
(frameshift variant)
Hemochromatosis type 3
GLikely pathogenic
TFR2
(G123* +1 more)
Single nucleotide variant
(nonsense)
Hemochromatosis type 3
GLikely pathogenic
TFR2
(S552* +1 more)
Single nucleotide variant
(nonsense)
Hemochromatosis type 3
GLikely pathogenic
TFR2
Single nucleotide variant
(splice acceptor variant)
Hemochromatosis type 3
GLikely pathogenic
TFR2
(W74fs)
Deletion
(frameshift variant)
Hemochromatosis type 3
GLikely pathogenic
TFR2
(Q13*)
Single nucleotide variant
(nonsense)
Hemochromatosis type 3
GLikely pathogenic
TFR2
(E150fs)
Duplication
(frameshift variant)
Hemochromatosis type 3
GLikely pathogenic
TFR2
Single nucleotide variant
(splice donor variant)
Hemochromatosis type 3
GLikely pathogenic
TFR2
Single nucleotide variant
(splice acceptor variant)
Hemochromatosis type 3
GLikely pathogenic
TFR2
(G268E +1 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 3
GUncertain significance
TFR2
(W318* +1 more)
Single nucleotide variant
(nonsense)
Hereditary hemochromatosis
+1 more
GPathogenic/Likely pathogenic
TFR2
(L470fs +1 more)
Deletion
(frameshift variant)
Hemochromatosis type 3
GLikely pathogenic
TFR2
Duplication
(splice donor variant)
Hemochromatosis type 3
GLikely pathogenic
TFR2
Single nucleotide variant
(splice acceptor variant)
Hemochromatosis type 3
GLikely pathogenic
TFR2
(A572fs +1 more)
Deletion
(frameshift variant)
Hemochromatosis type 3
GLikely pathogenic
TFR2
(R65fs)
Deletion
(frameshift variant)
Hemochromatosis type 3
GLikely pathogenic
TFR2
(W137*)
Single nucleotide variant
(nonsense)
Hemochromatosis type 3
GLikely pathogenic
TFR2
Single nucleotide variant
(intron variant)
Hemochromatosis type 3
GLikely pathogenic
TFR2
(H427fs +1 more)
Duplication
(frameshift variant)
Hemochromatosis type 3
GLikely pathogenic
TFR2
(L4fs)
Duplication
(frameshift variant)
Hemochromatosis type 3
GLikely pathogenic
TFR2
(Y247* +1 more)
Single nucleotide variant
(nonsense)
Hemochromatosis type 3
GLikely pathogenic
TFR2
(Q186* +1 more)
Single nucleotide variant
(nonsense)
Hemochromatosis type 3
GLikely pathogenic
LOC113687175, TFR2
Single nucleotide variant
(splice donor variant)
Hemochromatosis type 3
GLikely pathogenic
TFR2
(R602fs +1 more)
Indel
(frameshift variant)
Hemochromatosis type 3
GLikely pathogenic
TFR2
Single nucleotide variant
(splice acceptor variant)
Hemochromatosis type 3
GLikely pathogenic
TFR2
Single nucleotide variant
(splice donor variant)
Hemochromatosis type 3
GLikely pathogenic
LOC113687175, TFR2
(E515* +1 more)
Single nucleotide variant
(nonsense)
Hemochromatosis type 3
GLikely pathogenic
TFR2
(Y23fs)
Deletion
(frameshift variant)
Hemochromatosis type 3
GLikely pathogenic
TFR2
(Y197* +1 more)
Single nucleotide variant
(nonsense)
Hemochromatosis type 3
GLikely pathogenic
TFR2
(S178* +1 more)
Single nucleotide variant
(nonsense)
Hemochromatosis type 3
GLikely pathogenic
TFR2
(K219fs +1 more)
Deletion
(frameshift variant)
Hemochromatosis type 3
GLikely pathogenic
TFR2
Single nucleotide variant
(splice donor variant)
Hemochromatosis type 3
GLikely pathogenic
TFR2
(N241I +1 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 3
+1 more
GConflicting classifications of pathogenicity
LOC113687175, TFR2
(R527fs +1 more)
Microsatellite
(frameshift variant)
Hemochromatosis type 3
GPathogenic
LOC113687175, TFR2
Single nucleotide variant
(splice acceptor variant)
Hemochromatosis type 3
GLikely pathogenic
TFR2
(Q186fs +1 more)
Microsatellite
(frameshift variant)
Hereditary hemochromatosis
+1 more
GPathogenic/Likely pathogenic
TFR2
Single nucleotide variant
(splice acceptor variant)
Hereditary hemochromatosis
+1 more
GLikely pathogenic
TFR2
(L175fs +1 more)
Microsatellite
(frameshift variant)
Hemochromatosis type 3
+1 more
GPathogenic/Likely pathogenic
TFR2
(Q20*)
Single nucleotide variant
(nonsense)
Hereditary hemochromatosis
+1 more
GPathogenic/Likely pathogenic
TFR2
(E320fs +1 more)
Deletion
(frameshift variant)
Hereditary hemochromatosis
+1 more
GPathogenic/Likely pathogenic
TFR2
(A572fs +1 more)
Microsatellite
(frameshift variant)
Hemochromatosis type 3
+1 more
GPathogenic/Likely pathogenic
TFR2
(Q12*)
Single nucleotide variant
(nonsense)
Hemochromatosis type 3
+1 more
GPathogenic/Likely pathogenic
LOC113687175, TFR2
Single nucleotide variant
(splice donor variant)
Hemochromatosis type 3
+1 more
GPathogenic/Likely pathogenic
TFR2
Deletion
(splice donor variant)
Hemochromatosis type 3
+1 more
GPathogenic/Likely pathogenic
LOC113687175, TFR2
(D509Y +1 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 3
GLikely pathogenic
TFR2
Single nucleotide variant
(splice acceptor variant)
Hemochromatosis type 3
GPathogenic
TFR2
(L256R +1 more)
Single nucleotide variant
(missense variant)
Hereditary hemochromatosis
GBenign
TFR2
Single nucleotide variant
(synonymous variant)
Hereditary hemochromatosis
GLikely benign
TFR2
Single nucleotide variant
(intron variant)
Hereditary hemochromatosis
GLikely benign
TFR2
Single nucleotide variant
(synonymous variant)
Hereditary hemochromatosis
GLikely benign
TFR2
Single nucleotide variant
(synonymous variant)
Hereditary hemochromatosis
GLikely benign
TFR2
Single nucleotide variant
(synonymous variant)
Hereditary hemochromatosis
GLikely benign
TFR2
Single nucleotide variant
(synonymous variant)
Hereditary hemochromatosis
GLikely benign
TFR2
Single nucleotide variant
(synonymous variant)
Hereditary hemochromatosis
GLikely benign
TFR2
Single nucleotide variant
(synonymous variant)
Hereditary hemochromatosis
GLikely benign
TFR2
(G221* +1 more)
Single nucleotide variant
(nonsense)
Hereditary hemochromatosis
+1 more
GPathogenic/Likely pathogenic
LOC113687175, TFR2
(D528fs +1 more)
Microsatellite
(frameshift variant)
Hereditary hemochromatosis
+1 more
GPathogenic/Likely pathogenic
TFR2
(Q117* +1 more)
Single nucleotide variant
(nonsense)
Hemochromatosis type 3
+1 more
GPathogenic/Likely pathogenic
TFR2
(Y136fs)
Microsatellite
(frameshift variant)
Hereditary hemochromatosis
+1 more
GPathogenic/Likely pathogenic
TFR2
(D575fs +1 more)
Duplication
(frameshift variant)
Hereditary hemochromatosis
+1 more
GPathogenic/Likely pathogenic
TFR2
Single nucleotide variant
(splice donor variant)
Hemochromatosis type 3
+1 more
GLikely pathogenic
LOC113687175, TFR2
(E520K +1 more)
Single nucleotide variant
(missense variant)
Hereditary hemochromatosis
+1 more
GUncertain significance
TFR2
(A45V)
Single nucleotide variant
(missense variant)
Hemochromatosis type 3
GUncertain significance
LOC113687175, TFR2
(A514V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TFR2
(D139H)
Single nucleotide variant
(missense variant)
Hemochromatosis type 3
GUncertain significance
TFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary hemochromatosis
GLikely benign
TFR2
(D230E +1 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 3
GLikely benign
TFR2
Single nucleotide variant
(intron variant)
Hereditary hemochromatosis
GLikely benign
TFR2
(R227Q +1 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 3
GLikely benign
TFR2
(G244S +1 more)
Single nucleotide variant
(missense variant)
Hereditary hemochromatosis
+2 more
GUncertain significance
TFR2
Single nucleotide variant
(synonymous variant)
Hereditary hemochromatosis
GLikely benign
TFR2
(R10T)
Single nucleotide variant
(missense variant)
Hereditary hemochromatosis
GUncertain significance
TFR2
(A193T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TFR2
(V484M +1 more)
Single nucleotide variant
(missense variant)
Hereditary hemochromatosis
GUncertain significance
LOC113687175, TFR2
(I710fs +1 more)
Deletion
(frameshift variant)
Hemochromatosis type 3
+1 more
GPathogenic/Likely pathogenic
TFR2
(F558fs +1 more)
Duplication
(frameshift variant)
Hereditary hemochromatosis
+1 more
GPathogenic/Likely pathogenic
TFR2
Deletion
Hemochromatosis type 3
GPathogenic
TFR2
(L224R +1 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 3
GPathogenic
TFR2
Single nucleotide variant
(synonymous variant)
Hemochromatosis type 3
GUncertain significance
TFR2
(N231K +1 more)
Single nucleotide variant
(missense variant)
Hereditary hemochromatosis
+1 more
GConflicting classifications of pathogenicity
TFR2
Single nucleotide variant
(synonymous variant)
Hereditary hemochromatosis
+1 more
GConflicting classifications of pathogenicity
TFR2
Single nucleotide variant
(synonymous variant)
Hereditary hemochromatosis
+1 more
GConflicting classifications of pathogenicity
LOC113687175, TFR2
Single nucleotide variant
(synonymous variant)
Hemochromatosis type 3
GUncertain significance
LOC113687175, TFR2
(Y522S +1 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 3
GUncertain significance
TFR2
(S64P)
Single nucleotide variant
(missense variant)
Hemochromatosis type 3
GUncertain significance
TFR2
(G78V)
Single nucleotide variant
(missense variant)
Hemochromatosis type 3
GUncertain significance
TFR2
Single nucleotide variant
(intron variant)
Hereditary hemochromatosis
+2 more
GConflicting classifications of pathogenicity
TFR2
(R249H +1 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 3
GUncertain significance
TFR2
(V256I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TFR2
Single nucleotide variant
(synonymous variant)
Hereditary hemochromatosis
+1 more
GConflicting classifications of pathogenicity
LOC113687175, TFR2
(R541Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
TFR2
(L579V +1 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 3
GUncertain significance
TFR2
(L608P +1 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 3
GUncertain significance
TFR2
(M143L)
Single nucleotide variant
(missense variant)
Hemochromatosis type 3
+1 more
GUncertain significance
TFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Hemochromatosis type 3
GUncertain significance
TFR2
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TFR2
Single nucleotide variant
(intron variant)
Hereditary hemochromatosis
+1 more
GConflicting classifications of pathogenicity
TFR2
(V325M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
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