"Ambry Genetics"[submitter] AND "PRF1"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2236002	NM_001083116.3(PRF1):c.1648C>T (p.Arg550Trp)	PRF1 (R550W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267252	NM_001083116.3(PRF1):c.1615C>T (p.Pro539Ser)	PRF1 (P539S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218598	NM_001083116.3(PRF1):c.1492G>T (p.Asp498Tyr)	PRF1 (D498Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516257	NM_001083116.3(PRF1):c.1432del (p.Pro477_Leu478insTer)	PRF1	Deletion (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2516256	NM_001083116.3(PRF1):c.1418C>G (p.Ala473Gly)	PRF1 (A473G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1399378	NM_001083116.3(PRF1):c.1365C>A (p.Asp455Glu)	PRF1 (D455E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 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 2258509	NM_001083116.3(PRF1):c.1238G>C (p.Gly413Ala)	PRF1 (G413A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 536219	NM_001083116.3(PRF1):c.1207A>G (p.Thr403Ala)	PRF1 (T403A)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GUncertain significance
Select item 1466033	NM_001083116.3(PRF1):c.1199C>T (p.Ser400Leu)	PRF1 (S400L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2591544	NM_001083116.3(PRF1):c.1165C>T (p.Pro389Ser)	PRF1 (P389S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 536228	NM_001083116.3(PRF1):c.1153C>T (p.Arg385Trp)	PRF1 (R385W)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 3218597	NM_001083116.3(PRF1):c.1136G>T (p.Arg379Leu)	PRF1 (R379L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 536223	NM_001083116.3(PRF1):c.1000G>A (p.Gly334Ser)	PRF1 (G334S)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 2297860	NM_001083116.3(PRF1):c.937G>A (p.Asp313Asn)	PRF1 (D313N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 971288	NM_001083116.3(PRF1):c.844AAG[3] (p.Lys285del)	PRF1 (K285del)	Microsatellite (inframe_deletion)	Aplastic anemia +4 more	GPathogenic
Select item 3309889	NM_001083116.3(PRF1):c.811A>T (p.Ser271Cys)	PRF1 (S271C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 655814	NM_001083116.3(PRF1):c.796A>G (p.Ile266Val)	PRF1 (I266V)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 2145708	NM_001083116.3(PRF1):c.722C>A (p.Thr241Asn)	PRF1 (T241N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 965669	NM_001083116.3(PRF1):c.704C>T (p.Ala235Val)	PRF1 (A235V)	Single nucleotide variant (missense variant)	PRF1-related disorder +2 more	GUncertain significance
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 1966115	NM_001083116.3(PRF1):c.640A>G (p.Arg214Gly)	PRF1 (R214G)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GUncertain significance
Select item 1441409	NM_001083116.3(PRF1):c.616G>A (p.Ala206Thr)	PRF1 (A206T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2266406	NM_001083116.3(PRF1):c.602C>T (p.Pro201Leu)	PRF1 (P201L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1343516	NM_001083116.3(PRF1):c.559C>T (p.Pro187Ser)	PRF1 (P187S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3309890	NM_001083116.3(PRF1):c.556A>G (p.Thr186Ala)	PRF1 (T186A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 943778	NM_001083116.3(PRF1):c.542T>C (p.Phe181Ser)	PRF1 (F181S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 520942	NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser)	PRF1 (G149S)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 3218600	NM_001083116.3(PRF1):c.415C>T (p.Pro139Ser)	PRF1 (P139S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1413966	NM_001083116.3(PRF1):c.367C>T (p.Arg123Cys)	PRF1 (R123C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 643689	NM_001083116.3(PRF1):c.356G>A (p.Arg119Gln)	PRF1 (R119Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2482524	NM_001083116.3(PRF1):c.355C>G (p.Arg119Gly)	PRF1 (R119G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1401709	NM_001083116.3(PRF1):c.343G>A (p.Glu115Lys)	PRF1 (E115K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 951295	NM_001083116.3(PRF1):c.310C>T (p.Arg104Cys)	PRF1 (R104C)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GUncertain significance
Select item 1355871	NM_001083116.3(PRF1):c.286C>T (p.Arg96Trp)	PRF1 (R96W)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GUncertain significance
Select item 1467329	NM_001083116.3(PRF1):c.259C>T (p.Arg87Cys)	PRF1 (R87C)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GUncertain significance
Select item 1417277	NM_001083116.3(PRF1):c.164G>A (p.Arg55His)	PRF1 (R55H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 645942	NM_001083116.3(PRF1):c.79G>A (p.Ala27Thr)	PRF1 (A27T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2547389	NM_001083116.3(PRF1):c.16C>T (p.Leu6Phe)	PRF1 (L6F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 43