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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STX11
Deletion
Familial hemophagocytic lymphohistiocytosis 5
Gnot provided
STXBP2
(R65W)
Single nucleotide variant
(missense variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
Gnot provided
STXBP2
(R65Q)
Single nucleotide variant
(missense variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
+1 more
GPathogenic/Likely pathogenic
STXBP2
(R190C +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
+1 more
GConflicting classifications of pathogenicity
STXBP2
Single nucleotide variant
(splice acceptor variant)
Familial hemophagocytic lymphohistiocytosis
+3 more
GPathogenic
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