"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 46

	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)	Familial hemophagocytic lymphohistiocytosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 1694125	NM_001083116.3(PRF1):c.1595del (p.Gly532fs)	PRF1 (G532fs)	Deletion (frameshift variant)	Autoinflammatory syndrome	GLikely pathogenic
Select item 709441	NM_001083116.3(PRF1):c.1357G>A (p.Val453Met)	PRF1 (V453M)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +2 more	GLikely benign
Select item 877920	NM_001083116.3(PRF1):c.1350G>A (p.Thr450=)	PRF1	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 300327	NM_001083116.3(PRF1):c.1310C>T (p.Ala437Val)	PRF1 (A437V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 13717	NM_001083116.3(PRF1):c.1304C>T (p.Thr435Met)	PRF1 (T435M)	Single nucleotide variant (missense variant)	Aplastic anemia +2 more	GLikely pathogenic
Select item 1694124	NM_001083116.3(PRF1):c.1226C>T (p.Pro409Leu)	PRF1 (P409L)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 844947	NM_001083116.3(PRF1):c.1202C>T (p.Ala401Val)	PRF1 (A401V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 13709	NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter)	PRF1 (W374*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 662697	NM_001083116.3(PRF1):c.1070G>A (p.Arg357Gln)	PRF1 (R357Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 1694123	NM_001083116.3(PRF1):c.1001G>A (p.Gly334Asp)	PRF1 (G334D)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 468311	NM_001083116.3(PRF1):c.916G>A (p.Gly306Ser)	PRF1 (G306S)	Single nucleotide variant (missense variant)	Aplastic anemia +3 more	GConflicting classifications of pathogenicity
Select item 1406224	NM_001083116.3(PRF1):c.902C>A (p.Ser301Ter)	PRF1 (S301*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 838508	NM_001083116.3(PRF1):c.886T>C (p.Tyr296His)	PRF1 (Y296H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 791672	NM_001083116.3(PRF1):c.873C>T (p.Ser291=)	PRF1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 660806	NM_001083116.3(PRF1):c.866C>T (p.Thr289Met)	PRF1 (T289M)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 1694135	NM_001083116.3(PRF1):c.865A>G (p.Thr289Ala)	PRF1 (T289A)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694134	NM_001083116.3(PRF1):c.808G>A (p.Gly270Ser)	PRF1 (G270S)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 1694133	NM_001083116.3(PRF1):c.793A>C (p.Asn265His)	PRF1 (N265H)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 13716	NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser)	PRF1 (N252S)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 257406	NM_001083116.3(PRF1):c.726C>T (p.Cys242=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2 +4 more	GBenign/Likely benign
Select item 468309	NM_001083116.3(PRF1):c.702G>A (p.Ser234=)	PRF1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 300331	NM_001083116.3(PRF1):c.695G>A (p.Arg232His)	PRF1 (R232H)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 13711	NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp)	PRF1 (R225W)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis +4 more	GPathogenic
Select item 468308	NM_001083116.3(PRF1):c.632C>T (p.Ala211Val)	PRF1 (A211V)	Single nucleotide variant (missense variant)	Lymphoma, non-Hodgkin, familial +3 more	GConflicting classifications of pathogenicity
Select item 1694132	NM_001083116.3(PRF1):c.523del (p.Glu175fs)	PRF1 (E175fs)	Deletion (frameshift variant)	Autoinflammatory syndrome	GLikely pathogenic
Select item 789534	NM_001083116.3(PRF1):c.519G>A (p.Thr173=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 1694131	NM_001083116.3(PRF1):c.503G>A (p.Ser168Asn)	PRF1 (S168N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1694130	NM_001083116.3(PRF1):c.481A>G (p.Lys161Glu)	PRF1 (K161E)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 257402	NM_001083116.3(PRF1):c.462A>G (p.Ala154=)	PRF1	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +3 more	GBenign/Likely benign
Select item 468304	NM_001083116.3(PRF1):c.444C>T (p.Ala148=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2 +2 more	GBenign/Likely benign
Select item 257401	NM_001083116.3(PRF1):c.435G>A (p.Val145=)	PRF1	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +4 more	GBenign/Likely benign
Select item 536229	NM_001083116.3(PRF1):c.403G>A (p.Val135Met)	PRF1 (V135M)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +2 more	GBenign/Likely benign
Select item 765690	NM_001083116.3(PRF1):c.402C>T (p.Asp134=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GConflicting classifications of pathogenicity
Select item 1694129	NM_001083116.3(PRF1):c.391G>T (p.Val131Phe)	PRF1 (V131F)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 1694127	NM_001083116.3(PRF1):c.374T>C (p.Ile125Thr)	PRF1 (I125T)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 789535	NM_001083116.3(PRF1):c.368G>A (p.Arg123His)	PRF1 (R123H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 300334	NM_001083116.3(PRF1):c.286C>A (p.Arg96=)	PRF1	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 13718	NM_001083116.3(PRF1):c.272C>T (p.Ala91Val)	PRF1 (A91V)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity; risk factor
Select item 1694126	NM_001083116.3(PRF1):c.248G>A (p.Gly83Asp)	PRF1 (G83D)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1533144	NM_001083116.3(PRF1):c.225C>T (p.Leu75=)	PRF1	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 300335	NM_001083116.3(PRF1):c.132C>A (p.Ala44=)	PRF1	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 785783	NM_001083116.3(PRF1):c.111C>T (p.Phe37=)	PRF1	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 598223	NM_001083116.3(PRF1):c.82C>T (p.Arg28Cys)	PRF1 (R28C)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 468305	NM_001083116.3(PRF1):c.50del (p.Leu17fs)	PRF1 (L17fs)	Deletion (frameshift variant)	Autoinflammatory syndrome +5 more	GPathogenic
Select item 13720	NM_001083116.3(PRF1):c.11G>A (p.Arg4His)	PRF1 (R4H)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign

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Items: 46