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Links from MedGen

Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EPAS1
Single nucleotide variant
(3 prime UTR variant)
Familial erythrocytosis
GLikely benign
EPAS1
Duplication
(3 prime UTR variant)
Familial erythrocytosis
GLikely benign
EPAS1
Insertion
(3 prime UTR variant)
Familial erythrocytosis
GLikely benign
EPAS1
Duplication
(3 prime UTR variant)
Familial erythrocytosis
GLikely benign
EPAS1
Single nucleotide variant
(3 prime UTR variant)
Familial erythrocytosis
GUncertain significance
EPAS1
Microsatellite
(3 prime UTR variant)
Familial erythrocytosis
GUncertain significance
EPAS1
Duplication
(3 prime UTR variant)
Familial erythrocytosis
GBenign
EPAS1
Duplication
(3 prime UTR variant)
Familial erythrocytosis
GUncertain significance
EPAS1
Deletion
(3 prime UTR variant)
Familial erythrocytosis
GBenign
EPAS1
Deletion
(3 prime UTR variant)
Familial erythrocytosis
GUncertain significance
EPAS1
Duplication
(intron variant)
Familial erythrocytosis
+1 more
GBenign/Likely benign
EPAS1
Deletion
(intron variant)
Familial erythrocytosis
GUncertain significance
EPAS1
Insertion
(intron variant)
not provided
+1 more
GBenign
EPAS1
Duplication
(intron variant)
EPAS1-related disorder
+1 more
GBenign/Likely benign
EPAS1
Insertion
(intron variant)
Familial erythrocytosis
GUncertain significance
EPAS1
Insertion
(intron variant)
Familial erythrocytosis
GUncertain significance
EPAS1
Insertion
(intron variant)
not provided
+1 more
GLikely benign
EPAS1, LOC129933655
Duplication
(5 prime UTR variant)
not provided
+1 more
GBenign
EPAS1
Duplication
(5 prime UTR variant)
Familial erythrocytosis
GBenign
EPAS1, LOC129933654
Single nucleotide variant
(5 prime UTR variant)
Familial erythrocytosis
GUncertain significance
EPOR
Single nucleotide variant
Familial erythrocytosis
GLikely benign
EPOR
Duplication
(3 prime UTR variant +1 more)
Familial erythrocytosis
GUncertain significance
EGLN1
Duplication
not provided
+1 more
GBenign
EGLN1
Deletion
Familial erythrocytosis
GLikely benign
EGLN1
Deletion
Familial erythrocytosis
GUncertain significance
EGLN1
Microsatellite
Familial erythrocytosis
GLikely benign
EGLN1
Single nucleotide variant
Familial erythrocytosis
GLikely benign
EGLN1
Deletion
(intron variant)
Familial erythrocytosis
+1 more
GBenign
EGLN1
Duplication
(intron variant)
Familial erythrocytosis
+1 more
GConflicting classifications of pathogenicity
EGLN1
Deletion
(3 prime UTR variant)
Familial erythrocytosis
GUncertain significance
EGLN1
Deletion
(3 prime UTR variant)
Familial erythrocytosis
GUncertain significance
EGLN1
Deletion
(3 prime UTR variant)
Familial erythrocytosis
GBenign
EGLN1
Microsatellite
(3 prime UTR variant)
Familial erythrocytosis
GLikely benign
EGLN1
Insertion
(3 prime UTR variant)
Familial erythrocytosis
GLikely benign
EGLN1
Microsatellite
(3 prime UTR variant)
Familial erythrocytosis
GUncertain significance
EGLN1
Deletion
(3 prime UTR variant)
Familial erythrocytosis
GUncertain significance
EGLN1
Deletion
(3 prime UTR variant)
Familial erythrocytosis
GLikely benign
EGLN1
Duplication
(3 prime UTR variant)
Familial erythrocytosis
GUncertain significance
EGLN1
Single nucleotide variant
(3 prime UTR variant)
Familial erythrocytosis
GUncertain significance
EGLN1
Deletion
(3 prime UTR variant)
Familial erythrocytosis
GLikely benign
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