"Revvity Omics, Revvity"[submitter] AND "PRF1"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1331382	NM_001083116.3(PRF1):c.1442A>C (p.Gln481Pro)	PRF1 (Q481P)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 649865	NM_001083116.3(PRF1):c.1390C>T (p.Arg464Trp)	PRF1 (R464W)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GUncertain significance
Select item 2689824	NM_001083116.3(PRF1):c.1349C>A (p.Thr450Lys)	PRF1 (T450K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 468301	NM_001083116.3(PRF1):c.1349C>T (p.Thr450Met)	PRF1 (T450M)	Single nucleotide variant (missense variant)	Aplastic anemia +2 more	GPathogenic/Likely pathogenic
Select item 952308	NM_001083116.3(PRF1):c.1334G>A (p.Gly445Asp)	PRF1 (G445D)	Single nucleotide variant (missense variant)	Lymphoma, non-Hodgkin, familial +3 more	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 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 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 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 2435239	NM_001083116.3(PRF1):c.452A>T (p.His151Leu)	PRF1 (H151L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435240	NM_001083116.3(PRF1):c.352G>T (p.Ala118Ser)	PRF1 (A118S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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