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Links from MedGen

Items: 1 to 100 of 602

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
(L12V)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 2
GUncertain significance
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
(S378R)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 2
GUncertain significance
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
(E302*)
Single nucleotide variant
(nonsense)
Familial hemophagocytic lymphohistiocytosis 2
+1 more
GPathogenic
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
(W425fs)
Duplication
(frameshift variant)
Familial hemophagocytic lymphohistiocytosis 2
GPathogenic
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
(T107P)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 2
GUncertain significance
PRF1
(W328*)
Single nucleotide variant
(nonsense)
Familial hemophagocytic lymphohistiocytosis 2
GPathogenic
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
(Q423P)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 2
GUncertain significance
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
(Y537fs)
Deletion
(frameshift variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely pathogenic
PRF1
(L88M)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 2
GUncertain significance
PRF1
(H144fs)
Deletion
(frameshift variant)
Familial hemophagocytic lymphohistiocytosis 2
GPathogenic
PRF1
(V111fs)
Deletion
(frameshift variant)
Familial hemophagocytic lymphohistiocytosis 2
GPathogenic
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
(Y296*)
Single nucleotide variant
(nonsense)
Familial hemophagocytic lymphohistiocytosis 2
GPathogenic
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
(Q411*)
Single nucleotide variant
(nonsense)
Familial hemophagocytic lymphohistiocytosis 2
GPathogenic
PRF1
Single nucleotide variant
(intron variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
(C23fs)
Duplication
(frameshift variant)
Familial hemophagocytic lymphohistiocytosis 2
GPathogenic
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
(T295N)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 2
GUncertain significance
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
(Q209*)
Single nucleotide variant
(nonsense)
Familial hemophagocytic lymphohistiocytosis 2
GPathogenic
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
(Q81*)
Single nucleotide variant
(nonsense)
Familial hemophagocytic lymphohistiocytosis 2
GPathogenic
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
GLikely benign
PRF1
(Q405*)
Single nucleotide variant
(nonsense)
Familial hemophagocytic lymphohistiocytosis 2
GPathogenic
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