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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HOXA11, LOC107126281
(P151T)
Single nucleotide variant
(missense variant)
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
GUncertain significance
HOXA11, LOC107126281
(R132S)
Single nucleotide variant
(missense variant)
HOXA11-related condition
+1 more
GConflicting classifications of pathogenicity
HOXA11
(N291fs)
Deletion
(frameshift variant)
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
GPathogenic
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