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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRF1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
PRF1
(N252S)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 2
+3 more
GConflicting classifications of pathogenicity
PRF1
(H222Q)
Single nucleotide variant
(missense variant)
Aplastic anemia
+4 more
GPathogenic/Likely pathogenic
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
+2 more
GBenign/Likely benign
PRF1
(R123H)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 2
+3 more
GConflicting classifications of pathogenicity
PRF1
(A91V)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 2
+4 more
GConflicting classifications of pathogenicity; risk factor
PRF1
(R87H)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 2
GUncertain significance
PRF1
Single nucleotide variant
(synonymous variant)
Familial hemophagocytic lymphohistiocytosis 2
+3 more
GBenign/Likely benign
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