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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EPOR
(P488S)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonic facies syndrome, X-linked, 1
+2 more
GBenign/Likely benign
EPOR
(N487S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
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
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