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Links from MedGen

Items: 1 to 100 of 361

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
(N69K)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 4
GUncertain significance
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
(Q164*)
Single nucleotide variant
(nonsense)
Familial hemophagocytic lymphohistiocytosis 4
GPathogenic
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
(E109K)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 4
GUncertain significance
STX11
(R96W)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 4
GUncertain significance
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
+1 more
GLikely benign
STX11
(F281L)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 4
GUncertain significance
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
STX11-related disorder
+1 more
GLikely benign
STX11
(E112*)
Single nucleotide variant
(nonsense)
Familial hemophagocytic lymphohistiocytosis 4
GPathogenic
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
(S43fs)
Deletion
(frameshift variant)
Familial hemophagocytic lymphohistiocytosis 4
GPathogenic
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
(N133fs)
Deletion
(frameshift variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely pathogenic
STX11
(Q162*)
Single nucleotide variant
(nonsense)
Familial hemophagocytic lymphohistiocytosis 4
GPathogenic/Likely pathogenic
STX11
(E25*)
Single nucleotide variant
(nonsense)
Familial hemophagocytic lymphohistiocytosis 4
GPathogenic
STX11
(E109*)
Single nucleotide variant
(nonsense)
Familial hemophagocytic lymphohistiocytosis 4
GLikely pathogenic
STX11
(V233fs)
Deletion
(frameshift variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely pathogenic
STX11
(G184fs)
Deletion
(frameshift variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely pathogenic
STX11
(Y269*)
Single nucleotide variant
(nonsense)
Familial hemophagocytic lymphohistiocytosis 4
GLikely pathogenic
STX11
(Q250*)
Single nucleotide variant
(nonsense)
Familial hemophagocytic lymphohistiocytosis 4
GPathogenic
STX11
(R216fs)
Duplication
(frameshift variant)
Familial hemophagocytic lymphohistiocytosis 4
GPathogenic/Likely pathogenic
STX11
(S190fs)
Duplication
(frameshift variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely pathogenic
STX11
(M143I)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 4
GUncertain significance
STX11
(R276P)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 4
GUncertain significance
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
(R129W)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 4
GUncertain significance
STX11
(K83E)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 4
+1 more
GConflicting classifications of pathogenicity
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
(H225R)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 4
GUncertain significance
STX11
(S173L)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 4
GUncertain significance
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
(N133D)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 4
GUncertain significance
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
(V197L)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 4
GUncertain significance
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
(D254A)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 4
GUncertain significance
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
(N147T)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 4
GUncertain significance
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
(D53G)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 4
GUncertain significance
STX11
(L204I)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 4
GUncertain significance
STX11
(R64Q)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 4
GUncertain significance
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
(Q153P)
Indel
(missense variant)
Familial hemophagocytic lymphohistiocytosis 4
GUncertain significance
STX11
(L247F)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 4
GUncertain significance
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
STX11
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 4
GLikely benign
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