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Links from MedGen

Items: 1 to 100 of 1003

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STXBP2
(W443* +3 more)
Single nucleotide variant
(nonsense +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely pathogenic
STXBP2
Single nucleotide variant
(splice acceptor variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely pathogenic
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Deletion
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GBenign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +2 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +2 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
(C12* +1 more)
Single nucleotide variant
(nonsense +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GPathogenic
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Deletion
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GBenign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Deletion
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
(T126M +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GUncertain significance
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(splice donor variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely pathogenic
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Deletion
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
(D469E +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GUncertain significance
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
(A350V +3 more)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 5
GUncertain significance
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(splice donor variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely pathogenic
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
(T80S +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GUncertain significance
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
(G466fs +3 more)
Deletion
(frameshift variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GPathogenic
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
(E12fs)
Duplication
(frameshift variant +2 more)
Familial hemophagocytic lymphohistiocytosis 5
GPathogenic
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Deletion
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GBenign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(synonymous variant +1 more)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
STXBP2
Deletion
(intron variant)
Familial hemophagocytic lymphohistiocytosis 5
GLikely benign
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