"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PRF1"[gene - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 715355	NM_001083116.3(PRF1):c.1620A>G (p.Gln540=)	PRF1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3027029	NM_001083116.3(PRF1):c.1151G>C (p.Gly384Ala)	PRF1 (G384A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13709	NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter)	PRF1 (W374*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 2 +4 more	GConflicting classifications of pathogenicity
Select item 257407	NM_001083116.3(PRF1):c.807C>T (p.His269=)	PRF1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 13716	NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser)	PRF1 (N252S)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 468308	NM_001083116.3(PRF1):c.632C>T (p.Ala211Val)	PRF1 (A211V)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 257403	NM_001083116.3(PRF1):c.528C>T (p.Cys176=)	PRF1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 789534	NM_001083116.3(PRF1):c.519G>A (p.Thr173=)	PRF1	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 756817	NM_001083116.3(PRF1):c.189A>C (p.Thr63=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GConflicting classifications of pathogenicity
Select item 2498463	NM_001083116.3(PRF1):c.150del (p.Thr51fs)	PRF1 (T51fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis +3 more	GPathogenic
Select item 468312	NM_001083116.3(PRF1):c.96G>A (p.Lys32=)	PRF1	Single nucleotide variant (synonymous variant)	Lymphoma, non-Hodgkin, familial +3 more	GBenign/Likely benign