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Links from MedGen

Items: 81

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HJV
(M1I)
Single nucleotide variant
(5 prime UTR variant +3 more)
Hemochromatosis type 2A
GLikely pathogenic
HJV
(A134fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
HJV
(R62W +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HJV
(S205T +1 more)
Single nucleotide variant
(missense variant +1 more)
Hemochromatosis type 2A
GUncertain significance
HJV
(R98H)
Single nucleotide variant
(missense variant +2 more)
Hemochromatosis type 2A
GUncertain significance
HJV
Single nucleotide variant
(intron variant +1 more)
Hemochromatosis type 2A
GLikely pathogenic
HJV
(W191S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hemochromatosis type 2A
GLikely pathogenic
HJV
(D149fs +1 more)
Deletion
(frameshift variant +1 more)
Hemochromatosis type 2A
+1 more
GPathogenic/Likely pathogenic
HJV
(R63*)
Single nucleotide variant
(nonsense +2 more)
Hemochromatosis type 2A
GPathogenic/Likely pathogenic
HJV
(P187L +2 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 2A
GUncertain significance
HJV
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
HJV
(S21fs)
Duplication
(5 prime UTR variant +2 more)
not provided
+1 more
GPathogenic
HJV
(R92P)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
HJV
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
HJV
(L140* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
HJV
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HJV
(I168F +2 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 2A
GUncertain significance
HJV
Single nucleotide variant
(synonymous variant)
Hemochromatosis type 2A
GUncertain significance
HJV
Single nucleotide variant
(synonymous variant)
Hemochromatosis type 2A
+1 more
GConflicting classifications of pathogenicity
HJV
Single nucleotide variant
(synonymous variant +1 more)
Hemochromatosis type 2A
GUncertain significance
HJV
Single nucleotide variant
(synonymous variant +1 more)
Hemochromatosis type 2A
+1 more
GConflicting classifications of pathogenicity
HJV
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 2A
GUncertain significance
HJV
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 2A
GUncertain significance
HJV
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 2A
GUncertain significance
HJV
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 2A
GUncertain significance
HJV
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 2A
GUncertain significance
HJV
(G57D)
Single nucleotide variant
(missense variant +2 more)
Hemochromatosis type 2A
GUncertain significance
HJV
(V249I +2 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 2A
GUncertain significance
HJV
(R106C +2 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 2A
GUncertain significance
HJV
(R213Q +2 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 2A
GUncertain significance
HJV
Single nucleotide variant
(5 prime UTR variant)
Hemochromatosis type 2A
GBenign
HJV
Single nucleotide variant
Hemochromatosis type 2A
GUncertain significance
HJV
Single nucleotide variant
Hemochromatosis type 2A
GUncertain significance
HJV
Single nucleotide variant
Hemochromatosis type 2A
GUncertain significance
HJV
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
HJV
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HJV
(C204Y +2 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 2A
+2 more
GConflicting classifications of pathogenicity
HJV
(R222Q +2 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 2A
+1 more
GUncertain significance
HJV
(E189K +2 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 2A
+1 more
GUncertain significance
HJV
(V74fs)
Deletion
(frameshift variant +2 more)
not provided
+1 more
GPathogenic
HJV
(Q120fs +2 more)
Deletion
(frameshift variant)
Hemochromatosis type 2A
GPathogenic
POLR3GL, TXNIP
+2 more
Duplication
Hemochromatosis type 2A
GUncertain significance
ANKRD34A, HJV
+2 more
Deletion
Hemochromatosis type 2A
GPathogenic
HJV
(G336* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
HJV
(H166R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hemochromatosis type 2A
GConflicting classifications of pathogenicity
HJV
Duplication
Hemochromatosis type 2A
GUncertain significance
HJV
Single nucleotide variant
(synonymous variant)
Hemochromatosis type 2A
+1 more
GConflicting classifications of pathogenicity
HJV
Single nucleotide variant
(synonymous variant +1 more)
Hemochromatosis type 2A
+1 more
GConflicting classifications of pathogenicity
HJV
(A102V)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
HJV
Deletion
Hemochromatosis type 2A
GPathogenic
HJV
Single nucleotide variant
(3 prime UTR variant)
Hemochromatosis type 2A
GUncertain significance
HJV
(F419L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HJV
Single nucleotide variant
(synonymous variant)
Hemochromatosis type 2A
GUncertain significance
HJV
Single nucleotide variant
(synonymous variant)
Hemochromatosis type 2A
GUncertain significance
HJV
(R329P +2 more)
Single nucleotide variant
(missense variant)
Hemochromatosis type 2A
GUncertain significance
HJV
(A310G +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
HJV
Single nucleotide variant
(synonymous variant)
Hemochromatosis type 2A
+1 more
GBenign
HJV
Single nucleotide variant
(synonymous variant)
Hemochromatosis type 2A
+1 more
GConflicting classifications of pathogenicity
HJV
(V187F +1 more)
Single nucleotide variant
(missense variant +1 more)
Hemochromatosis type 2A
GUncertain significance
HJV
Single nucleotide variant
(synonymous variant +1 more)
Hemochromatosis type 2A
+1 more
GConflicting classifications of pathogenicity
HJV
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HJV
(G137S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hemochromatosis type 2A
GUncertain significance
HJV
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HJV
(T96S)
Single nucleotide variant
(missense variant +2 more)
Hemochromatosis type 2A
GUncertain significance
HJV
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HJV
(R63Q)
Single nucleotide variant
(missense variant +2 more)
Hemochromatosis type 2A
GUncertain significance
HJV
Single nucleotide variant
(5 prime UTR variant)
Hemochromatosis type 2A
GLikely benign
HJV
Single nucleotide variant
(5 prime UTR variant)
Hemochromatosis type 2A
GUncertain significance
HJV
Single nucleotide variant
(5 prime UTR variant)
Hemochromatosis type 2A
GUncertain significance
HJV
(E3D)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GBenign
HJV
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
HJV
Microsatellite
(inframe_insertion +2 more)
not provided
GLikely benign
HJV
(R54*)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GPathogenic
HJV
(S328fs +2 more)
Microsatellite
(frameshift variant)
Hemochromatosis type 2A
GPathogenic
HJV
(C321* +2 more)
Single nucleotide variant
(nonsense)
Hemochromatosis type 2A
+1 more
GPathogenic
HJV
(L101P)
Single nucleotide variant
(missense variant +2 more)
HJV-related condition
+1 more
GPathogenic
HJV
(C80R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GPathogenic
HJV
(I281T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
HJV
(I222N +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
HJV
(R326* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
HJV
(G320V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
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