PRF1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
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 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 153538	GRCh38/hg38 10q22.1(chr10:70596378-71288228)x3	ADAMTS14, LINC02622 +26 more	Copy number gain	See cases	GUncertain significance
Select item 878036	NM_001083116.1(PRF1):c.*715T>C	PRF1	Single nucleotide variant	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 300314	NM_001083116.3(PRF1):c.*664A>G	PRF1	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 300315	NM_001083116.3(PRF1):c.*559T>G	PRF1	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 879498	NM_001083116.3(PRF1):c.*540T>C	PRF1	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 300316	NM_001083116.3(PRF1):c.*521C>A	PRF1	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 300317	NM_001083116.3(PRF1):c.*486T>C	PRF1	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 300318	NM_001083116.3(PRF1):c.*441G>A	PRF1	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 300319	NM_001083116.3(PRF1):c.*376G>A	PRF1	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 300320	NM_001083116.3(PRF1):c.*367G>A	PRF1	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 879861	NM_001083116.3(PRF1):c.*366C>T	PRF1	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
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 879862	NM_001083116.3(PRF1):c.*193A>G	PRF1	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 879863	NM_001083116.3(PRF1):c.*176A>T	PRF1	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 879864	NM_001083116.3(PRF1):c.*174T>C	PRF1	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 879865	NM_001083116.3(PRF1):c.*139C>T	PRF1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 300322	NM_001083116.3(PRF1):c.*139C>A	PRF1	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GBenign
Select item 300323	NM_001083116.3(PRF1):c.*112G>A	PRF1	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
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 300326	NM_001083116.3(PRF1):c.*46T>C	PRF1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 1346574	NM_001083116.3(PRF1):c.1660G>A (p.Val554Met)	PRF1 (V554M)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 2913958	NM_001083116.3(PRF1):c.1659C>T (p.Ala553=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2815572	NM_001083116.3(PRF1):c.1650G>T (p.Arg550=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 1112297	NM_001083116.3(PRF1):c.1650G>C (p.Arg550=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
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 1033280	NM_001083116.3(PRF1):c.1636C>G (p.Pro546Ala)	PRF1 (P546A)	Single nucleotide variant (missense variant)	Aplastic anemia +1 more	GUncertain significance
Select item 1949604	NM_001083116.3(PRF1):c.1629G>T (p.Leu543=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 1637313	NM_001083116.3(PRF1):c.1629G>C (p.Leu543=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 1467818	NM_001083116.3(PRF1):c.1629G>A (p.Leu543=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 1020734	NM_001083116.3(PRF1):c.1628dup (p.Glu545fs)	PRF1 (E545fs)	Duplication (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 1573617	NM_001083116.3(PRF1):c.1626T>C (p.Leu542=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 715355	NM_001083116.3(PRF1):c.1620A>G (p.Gln540=)	PRF1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 2994353	NM_001083116.3(PRF1):c.1611T>C (p.Tyr537=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2853628	NM_001083116.3(PRF1):c.1610_1611del (p.Tyr537fs)	PRF1 (Y537fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely pathogenic
Select item 3016451	NM_001083116.3(PRF1):c.1605G>C (p.Leu535=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2185061	NM_001083116.3(PRF1):c.1602C>T (p.Cys534=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 1694125	NM_001083116.3(PRF1):c.1595del (p.Gly532fs)	PRF1 (G532fs)	Deletion (frameshift variant)	Autoinflammatory syndrome	GLikely pathogenic
Select item 1381592	NM_001083116.3(PRF1):c.1594G>A (p.Gly532Ser)	PRF1 (G532S)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 2829376	NM_001083116.3(PRF1):c.1590A>C (p.Gly530=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 1426727	NM_001083116.3(PRF1):c.1589G>A (p.Gly530Glu)	PRF1 (G530E)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 931544	NM_001083116.3(PRF1):c.1585C>A (p.Leu529Met)	PRF1 (L529M)	Single nucleotide variant (missense variant)	Lymphoma, non-Hodgkin, familial	GUncertain significance
Select item 3240202	NM_001083116.3(PRF1):c.1573dup (p.Cys525fs)	PRF1 (C525fs)	Duplication (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2983604	NM_001083116.3(PRF1):c.1566T>C (p.His522=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2820058	NM_001083116.3(PRF1):c.1560C>G (p.Arg520=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 468302	NM_001083116.3(PRF1):c.1560C>T (p.Arg520=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GBenign
Select item 847419	NM_001083116.3(PRF1):c.1558C>T (p.Arg520Cys)	PRF1 (R520C)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 567164	NM_001083116.3(PRF1):c.1542T>A (p.His514Gln)	PRF1 (H514Q)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 1713577	NM_001083116.3(PRF1):c.1540C>G (p.His514Asp)	PRF1 (H514D)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 1029053	NM_001083116.3(PRF1):c.1528T>C (p.Cys510Arg)	PRF1 (C510R)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 2678061	NM_001083116.3(PRF1):c.1519G>T (p.Glu507Ter)	PRF1 (E507*)	Single nucleotide variant (nonsense)	Aplastic anemia	GPathogenic
Select item 2719848	NM_001083116.3(PRF1):c.1512T>C (p.Gly504=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 1685034	NM_001083116.3(PRF1):c.1511G>T (p.Gly504Val)	PRF1 (G504V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 948356	NM_001083116.3(PRF1):c.1501C>T (p.Pro501Ser)	PRF1 (P501S)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 1720578	NM_001083116.3(PRF1):c.1497G>C (p.Gln499His)	PRF1 (Q499H)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	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 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 956123	NM_001083116.3(PRF1):c.1477C>T (p.Leu493Phe)	PRF1 (L493F)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 3022529	NM_001083116.3(PRF1):c.1473T>C (p.Asp491=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 1039229	NM_001083116.3(PRF1):c.1471G>A (p.Asp491Asn)	PRF1 (D491N)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GLikely pathogenic
Select item 1907686	NM_001083116.3(PRF1):c.1470C>T (p.Asp490=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 1965285	NM_001083116.3(PRF1):c.1454A>G (p.Gln485Arg)	PRF1 (Q485R)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 2735409	NM_001083116.3(PRF1):c.1451del (p.Asp484fs)	PRF1 (D484fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GPathogenic
Select item 1917902	NM_001083116.3(PRF1):c.1450G>A (p.Asp484Asn)	PRF1 (D484N)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 2759955	NM_001083116.3(PRF1):c.1448G>A (p.Trp483Ter)	PRF1 (W483*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 2	GPathogenic
Select item 2820059	NM_001083116.3(PRF1):c.1446C>G (p.Val482=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 578652	NM_001083116.3(PRF1):c.1444G>T (p.Val482Phe)	PRF1 (V482F)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 2825691	NM_001083116.3(PRF1):c.1443G>A (p.Gln481=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 1331382	NM_001083116.3(PRF1):c.1442A>C (p.Gln481Pro)	PRF1 (Q481P)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 2845669	NM_001083116.3(PRF1):c.1440G>A (p.Leu480=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 1079517	NM_001083116.3(PRF1):c.1434G>A (p.Leu478=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2516257	NM_001083116.3(PRF1):c.1432del (p.Pro477_Leu478insTer)	PRF1	Deletion (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2115540	NM_001083116.3(PRF1):c.1430C>T (p.Pro477Leu)	PRF1 (P477L)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 2088310	NM_001083116.3(PRF1):c.1428dup (p.Pro477fs)	PRF1 (P477fs)	Duplication (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 2	GPathogenic
Select item 1406222	NM_001083116.3(PRF1):c.1429C>G (p.Pro477Ala)	PRF1 (P477A)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 944072	NM_001083116.3(PRF1):c.1429C>A (p.Pro477Thr)	PRF1 (P477T)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GUncertain significance
Select item 2856226	NM_001083116.3(PRF1):c.1428G>T (p.Gly476=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2136868	NM_001083116.3(PRF1):c.1428del (p.Pro477_Leu478insTer)	PRF1	Deletion (frameshift variant)	Aplastic anemia +1 more	GPathogenic
Select item 2005802	NM_001083116.3(PRF1):c.1406_1428del (p.Asp469fs)	PRF1 (D469fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 2	GPathogenic
Select item 725420	NM_001083116.3(PRF1):c.1428G>A (p.Gly476=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GBenign
Select item 536218	NM_001083116.3(PRF1):c.1427G>A (p.Gly476Glu)	PRF1 (G476E)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 1054723	NM_001083116.3(PRF1):c.1424G>A (p.Gly475Glu)	PRF1 (G475E)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 2763755	NM_001083116.3(PRF1):c.1422_1423del (p.Gly476fs)	PRF1 (G476fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 2	GPathogenic
Select item 2031901	NM_001083116.3(PRF1):c.1422del (p.Pro477_Leu478insTer)	PRF1	Deletion (frameshift variant)	Aplastic anemia +1 more	GPathogenic/Likely pathogenic
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 2986961	NM_001083116.3(PRF1):c.1413C>G (p.Leu471=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2198396	NM_001083116.3(PRF1):c.1411C>T (p.Leu471Phe)	PRF1 (L471F)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 2853717	NM_001083116.3(PRF1):c.1410G>C (p.Val470=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2707622	NM_001083116.3(PRF1):c.1398T>C (p.Asp466=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2042350	NM_001083116.3(PRF1):c.1392G>A (p.Arg464=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2997832	NM_001083116.3(PRF1):c.1390C>A (p.Arg464=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
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 2792603	NM_001083116.3(PRF1):c.1389G>A (p.Val463=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign

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