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Links from MedGen

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HAMP
(R75*)
Single nucleotide variant
(nonsense)
Hemochromatosis type 2B
+1 more
GLikely pathogenic
HAMP
Single nucleotide variant
Hereditary hemochromatosis
GBenign
HAMP
(R59P)
Single nucleotide variant
(missense variant)
Hemochromatosis type 2B
GPathogenic
HAMP
(R75G)
Single nucleotide variant
(missense variant)
Hemochromatosis type 2B
GUncertain significance
HAMP
Single nucleotide variant
(synonymous variant)
Hereditary hemochromatosis
+1 more
GConflicting classifications of pathogenicity
HAMP
(R56Q)
Single nucleotide variant
(missense variant)
HAMP-related condition
+2 more
GUncertain significance
HAMP
Single nucleotide variant
not provided
+2 more
GConflicting classifications of pathogenicity
HAMP
Single nucleotide variant
(intron variant)
Hereditary hemochromatosis
+1 more
GConflicting classifications of pathogenicity
HAMP
Single nucleotide variant
(5 prime UTR variant)
Hemochromatosis type 2B
GUncertain significance
HAMP
Single nucleotide variant
(synonymous variant)
Hemochromatosis type 2B
+2 more
GConflicting classifications of pathogenicity
HAMP
(T31M)
Single nucleotide variant
(missense variant)
Hemochromatosis type 2B
+1 more
GConflicting classifications of pathogenicity
HAMP
Single nucleotide variant
(5 prime UTR variant)
Hereditary hemochromatosis
GPathogenic
HAMP
(G71D)
Single nucleotide variant
(missense variant)
Hemochromatosis type 1
+4 more
GBenign/Likely benign
HAMP
(R56*)
Single nucleotide variant
(nonsense)
Hemochromatosis type 2B
GPathogenic
HAMP
(G32fs)
Deletion
(frameshift variant)
Hemochromatosis type 2B
GPathogenic
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