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Items: 1 to 100 of 114

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACP5, ANGPTL6
+536 more
Copy number gain
See cases
GLikely pathogenic
LOC130063608, LOC130063609
+484 more
Copy number gain
See cases
GPathogenic
LOC130063636, LOC130063637
+434 more
Copy number loss
See cases
GPathogenic
ANGPTL8, CCDC159
+52 more
Copy number gain
See cases
GUncertain significance
LOC130064390, LOC130064391
+2135 more
Copy number gain
See cases
GPathogenic
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
(non-coding transcript variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GBenign
EPOR
Single nucleotide variant
(non-coding transcript 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
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 specified
+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
(non-coding transcript 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
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
Single nucleotide variant
(synonymous variant +1 more)
EPOR-related condition
GLikely benign
EPOR
(A403T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EPOR
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
EPOR
(P380L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GBenign
EPOR
(P380A)
Single nucleotide variant
(missense variant +1 more)
EPOR-related condition
+2 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)
Inborn genetic diseases
+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
(non-coding transcript variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
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
(T244M)
Single nucleotide variant
(missense variant +1 more)
not provided
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)
Primary familial polycythemia due to EPO receptor mutation
+1 more
GBenign
EPOR
(E204Q)
Single nucleotide variant
(missense variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
+1 more
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
(non-coding transcript 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)
not provided
+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
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+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, LOC130063570
(A130T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GUncertain significance
EPOR, LOC130063571
(A112V)
Single nucleotide variant
(missense variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GUncertain significance
EPOR, LOC130063571
(A99V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely 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)
not provided
+1 more
GBenign
EPOR
(G46E)
Single nucleotide variant
(missense variant +1 more)
not provided
+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
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
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
(non-coding transcript variant +1 more)
not provided
GUncertain significance
EPOR
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GUncertain significance
EPOR
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GUncertain significance
EPOR
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GUncertain significance
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