"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "PRF1"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2683110	NM_001083116.3(PRF1):c.1283G>C (p.Trp428Ser)	PRF1 (W428S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 639509	NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys)	PRF1 (F421C)	Single nucleotide variant (missense variant)	Aplastic anemia +4 more	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 1523906	NM_001083116.3(PRF1):c.1117C>T (p.Arg373Cys)	PRF1 (R373C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 300329	NM_001083116.3(PRF1):c.961G>A (p.Gly321Arg)	PRF1 (G321R)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +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 3379968	NM_001083116.3(PRF1):c.439G>A (p.Val147Met)	PRF1 (V147M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 566192	NM_001083116.3(PRF1):c.407C>G (p.Thr136Ser)	PRF1 (T136S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 536217	NM_001083116.3(PRF1):c.382G>A (p.Asp128Asn)	PRF1 (D128N)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	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 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 802584	NM_001083116.3(PRF1):c.148G>A (p.Val50Met)	PRF1 (V50M)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
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