U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 106

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EPOR
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GUncertain significance
EPOR
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GBenign
EPOR
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GBenign
EPOR
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GUncertain significance
EPOR
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GBenign
EPOR
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GBenign
EPOR
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GBenign
EPOR
Duplication
(3 prime UTR variant +1 more)
Familial erythrocytosis
GUncertain significance
EPOR
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
+1 more
GBenign
EPOR
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GBenign
EPOR
Single nucleotide variant
(synonymous variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GUncertain significance
EPOR
(P488S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
EPOR
(N487S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
EPOR
(S486P)
Single nucleotide variant
(missense variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GLikely benign
EPOR
(Y485C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EPOR
(D482N)
Single nucleotide variant
(missense variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
+1 more
GLikely benign
EPOR
Single nucleotide variant
(synonymous variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GLikely benign
EPOR
(A476V)
Single nucleotide variant
(missense variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GBenign
EPOR
(G475A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EPOR
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
EPOR
(Y454*)
Single nucleotide variant
(nonsense +1 more)
Primary familial polycythemia due to EPO receptor mutation
GUncertain significance
EPOR
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
EPOR
(L445R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EPOR
(W439*)
Single nucleotide variant
(nonsense +1 more)
Primary familial polycythemia due to EPO receptor mutation
GAffects
EPOR
(W439*)
Single nucleotide variant
(nonsense +1 more)
Acute megakaryoblastic leukemia without down syndrome
GLikely pathogenic
EPOR
(R437H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
EPOR
(Q434fs)
Microsatellite
(frameshift variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GAffects
EPOR
(S432fs)
Duplication
(frameshift variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GAffects
EPOR
(D430fs)
Duplication
(frameshift variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GAffects
EPOR
Single nucleotide variant
(synonymous variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GUncertain significance
EPOR
(I428fs)
Duplication
(frameshift variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GAffects
EPOR
(Y426*)
Single nucleotide variant
(nonsense +1 more)
Primary familial polycythemia due to EPO receptor mutation
GAffects
EPOR
(A421P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EPOR
(A419T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EPOR
Single nucleotide variant
(synonymous variant +1 more)
EPOR-related disorder
GLikely benign
EPOR
(A403T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EPOR
(G400S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EPOR
(P386L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EPOR
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
EPOR
(P380L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
EPOR
(P380A)
Single nucleotide variant
(missense variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
+1 more
GBenign
EPOR
(L376P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EPOR
(P358S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EPOR
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
EPOR
(T341M)
Single nucleotide variant
(missense variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GLikely benign
EPOR
(R337H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EPOR
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
EPOR
(P327L)
Single nucleotide variant
(missense variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GUncertain significance
EPOR
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
EPOR
Single nucleotide variant
(synonymous variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GLikely benign
EPOR
(S318N)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
EPOR
(K301E)
Single nucleotide variant
(missense variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GUncertain significance
EPOR
(E292K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EPOR
Single nucleotide variant
(synonymous variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GUncertain significance
EPOR
Single nucleotide variant
(synonymous variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GUncertain significance
EPOR
(A270T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EPOR
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
EPOR
(L248R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EPOR
(T244M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
EPOR
(P239R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EPOR
(P239S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EPOR
(W233G)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
EPOR
Single nucleotide variant
(synonymous variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GUncertain significance
EPOR
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
EPOR
(A219T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EPOR
(E204Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
EPOR
(R202P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EPOR
(L199P)
Single nucleotide variant
(missense variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GUncertain significance
EPOR
Single nucleotide variant
(splice acceptor variant)
not specified
GUncertain significance
EPOR
(A190S)
Single nucleotide variant
(missense variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GBenign
EPOR
(N188H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EPOR
(G187C)
Single nucleotide variant
(missense variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GUncertain significance
EPOR
Single nucleotide variant
(synonymous variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GUncertain significance
EPOR
Single nucleotide variant
(synonymous variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
+1 more
GBenign/Likely benign
EPOR
(S185L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EPOR
(L167F)
Single nucleotide variant
(missense variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GUncertain significance
EPOR
(H161fs)
Duplication
(frameshift variant +1 more)
not provided
GLikely pathogenic
EPOR
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
EPOR
(A147V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EPOR
Single nucleotide variant
(synonymous variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
+1 more
GBenign
EPOR
(D146V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EPOR
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EPOR
Duplication
(intron variant)
not provided
GBenign
EPOR
Deletion
(intron variant)
not provided
GBenign
EPOR
Single nucleotide variant
(intron variant)
not provided
GBenign
EPOR
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GBenign
EPOR
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
EPOR
(Q82*)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
EPOR
(S78T)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
EPOR
(V72A)
Single nucleotide variant
(missense variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GLikely benign
EPOR
Single nucleotide variant
(synonymous variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
+1 more
GBenign
EPOR
(G46E)
Single nucleotide variant
(missense variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
+1 more
GBenign
EPOR
Single nucleotide variant
(intron variant)
Primary familial polycythemia due to EPO receptor mutation
GUncertain significance
EPOR
Single nucleotide variant
(intron variant)
Primary familial polycythemia due to EPO receptor mutation
+1 more
GBenign
EPOR
(W24R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EPOR
(A20S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EPOR
(C16F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EPOR
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
EPOR
(G5R)
Single nucleotide variant
(missense variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GUncertain significance
EPOR
(L4F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination