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Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TFR2
(G792R +1 more)
Single nucleotide variant
(missense variant)
Hereditary hemochromatosis
+2 more
GLikely pathogenic
TFR2
(A743V +1 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 3
Gnot provided
TFR2
Single nucleotide variant
(splice acceptor variant)
Hereditary hemochromatosis
+1 more
GConflicting classifications of pathogenicity
LOC113687175, TFR2
(Q690P +1 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 3
GPathogenic
TFR2
Microsatellite
(inframe_deletion)
Hereditary hemochromatosis
+1 more
GPathogenic/Likely pathogenic
TFR2
Single nucleotide variant
(synonymous variant)
Hereditary hemochromatosis
+2 more
GBenign
TFR2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
TFR2
(S556fs +1 more)
Deletion
(frameshift variant)
Hemochromatosis type 3
Gnot provided
TFR2
(L490R +1 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 3
Gnot provided
TFR2
(R468H +1 more)
Single nucleotide variant
(missense variant)
Hereditary hemochromatosis
+1 more
GConflicting classifications of pathogenicity
TFR2
(R455Q +1 more)
Single nucleotide variant
(missense variant)
TFR2-related condition
+3 more
GConflicting classifications of pathogenicity
TFR2
(A444T +1 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 3
GConflicting classifications of pathogenicity
TFR2
(N412del +1 more)
Microsatellite
(inframe_deletion)
Hemochromatosis type 3
GLikely pathogenic
TFR2
(R396* +1 more)
Single nucleotide variant
(nonsense)
Hereditary hemochromatosis
+1 more
GPathogenic
TFR2
(Q317* +1 more)
Single nucleotide variant
(nonsense)
Hemochromatosis type 3
Gnot provided
TFR2
(Y250* +1 more)
Single nucleotide variant
(nonsense)
Hemochromatosis type 3
GPathogenic
TFR2
(I238M +1 more)
Single nucleotide variant
(missense variant)
Hereditary hemochromatosis
+2 more
GBenign/Likely benign
TFR2
(M172K +1 more)
Single nucleotide variant
(missense variant +1 more)
Hemochromatosis type 3
GPathogenic
TFR2
Single nucleotide variant
(intron variant)
Hemochromatosis type 3
Gnot provided
TFR2
(R105*)
Single nucleotide variant
(nonsense)
Hereditary hemochromatosis
+1 more
GPathogenic/Likely pathogenic
TFR2
(A75V)
Single nucleotide variant
(missense variant)
Hereditary hemochromatosis
+1 more
GConflicting classifications of pathogenicity
TFR2
(H33N)
Single nucleotide variant
(missense variant)
Hemochromatosis type 3
Gnot provided
TFR2
(R30fs)
Duplication
(frameshift variant)
Hereditary hemochromatosis
GPathogenic
TFR2
(V22I)
Single nucleotide variant
(missense variant)
Hemochromatosis type 3
GUncertain significance
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
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