"GeneDx"[submitter] AND "PRF1"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 1287234	NM_001083116.3(PRF1):c.208_209del	PRF1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 300321	NM_001083116.3(PRF1):c.*209del	PRF1	Deletion (3 prime UTR variant)	not specified +2 more	GBenign
Select item 300324	NM_001083116.3(PRF1):c.*96G>A	PRF1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 300325	NM_001083116.3(PRF1):c.*89C>T	PRF1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1996433	NM_001083116.3(PRF1):c.1490G>C (p.Cys497Ser)	PRF1 (C497S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 216986	NM_001083116.3(PRF1):c.1337A>C (p.Gln446Pro)	PRF1 (Q446P)	Single nucleotide variant (missense variant)	Aplastic anemia +2 more	GPathogenic/Likely pathogenic
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 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 1999872	NM_001083116.3(PRF1):c.1132A>T (p.Ser378Cys)	PRF1 (S378C)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GUncertain significance
Select item 2504233	NM_001083116.3(PRF1):c.1130G>A (p.Cys377Tyr)	PRF1 (C377Y)	Single nucleotide variant (missense variant)	Aplastic anemia +1 more	GConflicting classifications of pathogenicity
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 2136870	NM_001083116.3(PRF1):c.1034C>G (p.Pro345Arg)	PRF1 (P345R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2073383	NM_001083116.3(PRF1):c.938A>T (p.Asp313Val)	PRF1 (D313V)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +2 more	GPathogenic/Likely pathogenic
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 2982288	NM_001083116.3(PRF1):c.904G>T (p.Glu302Ter)	PRF1 (E302*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 623316	NM_001083116.3(PRF1):c.851_862del (p.Lys284_Lys287del)	PRF1	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 971288	NM_001083116.3(PRF1):c.844AAG[3] (p.Lys285del)	PRF1 (K285del)	Microsatellite (inframe_deletion)	Aplastic anemia +4 more	GPathogenic
Select item 1498158	NM_001083116.3(PRF1):c.757G>A (p.Glu253Lys)	PRF1 (E253K)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +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)	Familial hemophagocytic lymphohistiocytosis 2 +3 more	GConflicting classifications of pathogenicity
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 280112	NM_001083116.3(PRF1):c.666C>A (p.His222Gln)	PRF1 (H222Q)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis +4 more	GPathogenic/Likely pathogenic
Select item 666080	NM_001083116.3(PRF1):c.626A>C (p.Gln209Pro)	PRF1 (Q209P)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GConflicting classifications of pathogenicity
Select item 1704139	NM_001083116.3(PRF1):c.610T>C (p.Phe204Leu)	PRF1 (F204L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 963564	NM_001083116.3(PRF1):c.609C>A (p.His203Gln)	PRF1 (H203Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 962080	NM_001083116.3(PRF1):c.604C>T (p.His202Tyr)	PRF1 (H202Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1181354	NM_001083116.3(PRF1):c.539+82C>T	PRF1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1264158	NM_001083116.3(PRF1):c.539+61G>A	PRF1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 835266	NM_001083116.3(PRF1):c.512C>A (p.Thr171Asn)	PRF1 (T171N)	Single nucleotide variant (missense variant)	not specified +2 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 520942	NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser)	PRF1 (G149S)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 383135	NM_001083116.3(PRF1):c.443C>G (p.Ala148Gly)	PRF1 (A148G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2678058	NM_001083116.3(PRF1):c.394G>A (p.Gly132Arg)	PRF1 (G132R)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis +2 more	GPathogenic/Likely pathogenic
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 1025645	NM_001083116.3(PRF1):c.217T>C (p.Cys73Arg)	PRF1 (C73R)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GConflicting classifications of pathogenicity
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 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: 40