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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HFE
Single nucleotide variant
(splice donor variant +1 more)
Juvenile hemochromatosis
GLikely pathogenic
HJV
(C204Y +2 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 2A
+2 more
GConflicting classifications of pathogenicity
HAMP
Single nucleotide variant
Juvenile hemochromatosis
GUncertain significance
HJV
(G69del)
Microsatellite
(inframe_deletion +2 more)
Juvenile hemochromatosis
GUncertain significance
HJV
Deletion
Juvenile hemochromatosis
GUncertain significance
HJV
(G320V +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
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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