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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STXBP2
(E59D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
STXBP2
(A201T +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
+1 more
GUncertain significance
STXBP2
(Q197H +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
STXBP2
(P331L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
STXBP2
(A429V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
STXBP2
(F466L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
STXBP2
(V510I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
STXBP2
(D512A +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
STXBP2
(S475N +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
STXBP2
(R529Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
+2 more
GConflicting classifications of pathogenicity
STXBP2
(R529P +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial hemophagocytic lymphohistiocytosis
+4 more
GConflicting classifications of pathogenicity; association
STXBP2
(R533W +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
STXBP2
(R575C +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
+1 more
GUncertain significance
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