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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC113687175, TFR2
(R541Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LOC113687175, TFR2
(R527fs +1 more)
Microsatellite
(frameshift variant)
Hemochromatosis type 3
GPathogenic
TFR2, LOC113687175
(Q672* +1 more)
Single nucleotide variant
(nonsense)
Hemochromatosis type 3
+2 more
GConflicting classifications of pathogenicity
LOC113687175, TFR2
Single nucleotide variant
(splice acceptor variant)
Hemochromatosis type 3
GLikely pathogenic
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