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Links from MedGen

Items: 1 to 100 of 451

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EGLN1
(E158del)
Deletion
(inframe_deletion)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
Single nucleotide variant
(synonymous variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
Single nucleotide variant
(synonymous variant)
Erythrocytosis, familial, 3
+1 more
GLikely benign
EGLN1
(A139V)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
Single nucleotide variant
(intron variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
(R35L)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
(R35H)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
+1 more
GUncertain significance
EGLN1
Single nucleotide variant
(intron variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
(T168M)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
Microsatellite
(inframe_insertion)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
Single nucleotide variant
(synonymous variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
(W258*)
Single nucleotide variant
(nonsense)
Erythrocytosis, familial, 3
GPathogenic
EGLN1
Single nucleotide variant
(intron variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
(E62D)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
Single nucleotide variant
(intron variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
Single nucleotide variant
(synonymous variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
(P200R)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1, LOC129932769
(C283S)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
(R35C)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
Single nucleotide variant
(intron variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1, LOC129932769
(K291E)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
(P165fs)
Deletion
(frameshift variant)
Erythrocytosis, familial, 3
GPathogenic
EGLN1
Single nucleotide variant
(synonymous variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
Single nucleotide variant
(synonymous variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
(S75C)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
(A88G)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
(T325P)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1, LOC129932769
Single nucleotide variant
(intron variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
(S39F)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
(V412fs)
Duplication
(3 prime UTR variant +1 more)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
Duplication
(inframe_insertion)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
Single nucleotide variant
(synonymous variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1, LOC129932769
Single nucleotide variant
(synonymous variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
(N3K)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
Single nucleotide variant
(synonymous variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1, LOC129932769
(P264L)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1, LOC129932769
Single nucleotide variant
(synonymous variant)
Erythrocytosis, familial, 3
+1 more
GLikely benign
EGLN1
Single nucleotide variant
(synonymous variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
(A228G)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
Single nucleotide variant
(intron variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
Single nucleotide variant
(3 prime UTR variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1, LOC129932769
(S275N)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
Single nucleotide variant
(intron variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
(S247W)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
(G170R)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
(K55R)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
+1 more
GUncertain significance
EGLN1
Single nucleotide variant
(synonymous variant)
Erythrocytosis, familial, 3
+1 more
GLikely benign
EGLN1
Single nucleotide variant
(synonymous variant)
Erythrocytosis, familial, 3
+1 more
GLikely benign
EGLN1
Single nucleotide variant
(synonymous variant)
Erythrocytosis, familial, 3
+1 more
GLikely benign
EGLN1
(P13A)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
EGLN1
(R128G)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
+1 more
GUncertain significance
EGLN1
(P77L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
EGLN1
Single nucleotide variant
(3 prime UTR variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
(A139T)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
Single nucleotide variant
(intron variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
(G105R)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
+1 more
GUncertain significance
EGLN1
(G76V)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
(R152G)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
+1 more
GUncertain significance
EGLN1
(P144A)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
Single nucleotide variant
(synonymous variant)
Erythrocytosis, familial, 3
+1 more
GLikely benign
EGLN1
(P189L)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
+1 more
GUncertain significance
EGLN1
Single nucleotide variant
(synonymous variant)
Erythrocytosis, familial, 3
+1 more
GLikely benign
EGLN1, LOC129932769
Single nucleotide variant
(intron variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
(G110V)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
Single nucleotide variant
(intron variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
Single nucleotide variant
(intron variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
Single nucleotide variant
(synonymous variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
Single nucleotide variant
(intron variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
(A114T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
EGLN1
(K52E)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
(Y403C)
Single nucleotide variant
(3 prime UTR variant +2 more)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
(P165T)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
(G70D)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1, LOC129932769
(M276V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EGLN1
Single nucleotide variant
(intron variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
Single nucleotide variant
(synonymous variant)
Erythrocytosis, familial, 3
+1 more
GLikely benign
EGLN1
(S166G)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
+1 more
GUncertain significance
EGLN1
Single nucleotide variant
(synonymous variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
Duplication
(inframe_insertion)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
(E143V)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
Single nucleotide variant
(intron variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
(A142T)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
+1 more
GUncertain significance
EGLN1
Microsatellite
(inframe_deletion)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
(R91W)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
(R128C)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
Single nucleotide variant
(synonymous variant)
Erythrocytosis, familial, 3
+1 more
GLikely benign
EGLN1
Single nucleotide variant
(intron variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
(G68R)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
+1 more
GUncertain significance
EGLN1
(E147G)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
(K146Q)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1, LOC129932769
Single nucleotide variant
(intron variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
Single nucleotide variant
(synonymous variant)
Erythrocytosis, familial, 3
GLikely benign
EGLN1
Deletion
(inframe_deletion)
Erythrocytosis, familial, 3
GUncertain significance
EGLN1
(D246E)
Single nucleotide variant
(missense variant)
Erythrocytosis, familial, 3
+1 more
GConflicting classifications of pathogenicity
EGLN1
Single nucleotide variant
(intron variant)
Erythrocytosis, familial, 3
GBenign
EGLN1
(N102S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
EGLN1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
EGLN1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
EGLN1
(P93S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
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