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Items: 1 to 100 of 292

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP39A1, DAAM2
+2577 more
Copy number gain
See cases
GPathogenic
LOC129995913, LOC129995914
+1340 more
Copy number gain
See cases
GPathogenic
H1-1, H1-2
+30 more
Copy number gain
See cases
GLikely benign
H1-1, H1-2
+85 more
Copy number gain
See cases
GLikely benign
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant)
not provided
+1 more
GBenign
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant)
not provided
GLikely benign
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant)
Hemochromatosis type 1
GUncertain significance
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant)
Hemochromatosis type 1
GBenign
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant)
not provided
GUncertain significance
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hemochromatosis type 1
+1 more
GConflicting classifications of pathogenicity
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
HFE, HFE-AS1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
(R6T)
Single nucleotide variant
(non-coding transcript variant +1 more)
HFE-related condition
GUncertain significance
HFE, HFE-AS1
(R6S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary hemochromatosis
+7 more
GUncertain significance
HFE, HFE-AS1
(P7R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hemochromatosis type 1
+3 more
GConflicting classifications of pathogenicity
HFE, HFE-AS1
(A8V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary hemochromatosis
GUncertain significance
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
(L14V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary hemochromatosis
+2 more
GUncertain significance
HFE, HFE-AS1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
(T17I)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hemochromatosis type 1
+1 more
GUncertain significance
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
(R23H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hemochromatosis type 1
+2 more
GConflicting classifications of pathogenicity
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary hemochromatosis
+1 more
GLikely pathogenic
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
Single nucleotide variant
(intron variant +1 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
Single nucleotide variant
(intron variant +1 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
Indel
(non-coding transcript variant +2 more)
Hemochromatosis type 1
GLikely pathogenic
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +2 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +2 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
(L30M)
Single nucleotide variant
(intron variant +2 more)
not provided
GUncertain significance
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +2 more)
Hereditary hemochromatosis
GLikely benign
HFE-AS1, HFE
Single nucleotide variant
(non-coding transcript variant +2 more)
Hereditary hemochromatosis
GLikely benign
HFE-AS1, HFE
(M35I)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
HFE, HFE-AS1
(G36D)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hereditary hemochromatosis
GUncertain significance
HFE, HFE-AS1
(A37V)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +2 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +2 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +2 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
Single nucleotide variant
(synonymous variant +2 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
(A49S)
Single nucleotide variant
(non-coding transcript variant +3 more)
not specified
GUncertain significance
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +2 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
(V53M +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hemochromatosis type 1
GUncertain significance
HFE, HFE-AS1
Single nucleotide variant
(synonymous variant +2 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GLikely benign
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +2 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
(V59M +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
+1 more
GUncertain significance
HFE, HFE-AS1
(Y38C +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hereditary hemochromatosis
GUncertain significance
HFE, HFE-AS1
(H63D +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hemochromatosis type 1
+9 more
GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +2 more)
Hereditary hemochromatosis
+2 more
GBenign/Likely benign
HFE, HFE-AS1
Single nucleotide variant
(synonymous variant +2 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
(S65C +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hemochromatosis type 1
+10 more
GConflicting classifications of pathogenicity
HFE, HFE-AS1
(R43C +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hemochromatosis type 1
+2 more
GUncertain significance
HFE, HFE-AS1
(R67C +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hereditary hemochromatosis
GLikely pathogenic
HFE, HFE-AS1
(R44H +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
HFE, HFE-AS1
(R67L +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hemochromatosis type 1
GUncertain significance
HFE, HFE-AS1
Single nucleotide variant
(synonymous variant +2 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
(V45M +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hemochromatosis type 1
GUncertain significance
HFE, HFE-AS1
(R48* +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hereditary hemochromatosis
+1 more
GPathogenic
HFE-AS1, HFE
(R71Q +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
HFE, HFE-AS1
(P73A +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
HFE, HFE-AS1
Single nucleotide variant
(non-coding transcript variant +2 more)
Hereditary hemochromatosis
GLikely benign
HFE, HFE-AS1
(S65C +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hemochromatosis type 1
GLikely pathogenic
HFE
(W71fs +1 more)
Deletion
(frameshift variant +1 more)
Hereditary hemochromatosis
GPathogenic
HFE
(G93R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hemochromatosis type 1
GPathogenic
HFE
(G93V +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary hemochromatosis
GUncertain significance
HFE
Single nucleotide variant
(synonymous variant +1 more)
Hereditary hemochromatosis
GLikely benign
HFE
Indel
(missense variant +1 more)
not specified
GUncertain significance
HFE
(W71C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HFE
(D72H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HFE
(I105V +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary hemochromatosis
GUncertain significance
HFE
(I82S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary hemochromatosis
GUncertain significance
HFE
(I105T +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary hemochromatosis
GUncertain significance
HFE
(E107G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
HFE
Single nucleotide variant
(splice donor variant +1 more)
Hemochromatosis type 1
GLikely pathogenic
HFE
Single nucleotide variant
(splice donor variant +1 more)
not provided
GLikely pathogenic
HFE
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
HFE
Single nucleotide variant
(intron variant)
Hereditary hemochromatosis
GLikely benign
HFE
Single nucleotide variant
(intron variant)
Hereditary hemochromatosis
GLikely benign
HFE
Single nucleotide variant
(intron variant)
Hereditary hemochromatosis
GLikely benign
HFE
Single nucleotide variant
(intron variant)
Hereditary hemochromatosis
GUncertain significance
HFE
Single nucleotide variant
(intron variant)
Hereditary hemochromatosis
GLikely benign
HFE
Single nucleotide variant
(intron variant)
Hereditary hemochromatosis
GLikely benign
HFE
Single nucleotide variant
(splice acceptor variant +1 more)
Hereditary hemochromatosis
GLikely pathogenic
HFE
Single nucleotide variant
(synonymous variant +1 more)
Hereditary hemochromatosis
GLikely benign
HFE
Single nucleotide variant
(synonymous variant +1 more)
Hereditary hemochromatosis
GLikely benign
HFE
Single nucleotide variant
(synonymous variant +1 more)
Hereditary hemochromatosis
GLikely benign
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