Prf1 Variant Search Result - Rat Genome Database

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717 records found for search term Prf1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8563837	CV28747	deletion	PRF1, 1-BP DEL, 50T	Familial hemophagocytic lymphohistiocytosis 2 [RCV000014707]	pathogenic				Human		name
11601242	CV310615	single nucleotide variant	NM_001083116.3(PRF1):c.*89C>T	Familial hemophagocytic lymphohistiocytosis 2 [RCV000280541]\|not provided [RCV001636863]	benign\|likely benign	10	70597964	70597964	Human	1	name
11649693	CV310623	single nucleotide variant	NM_001083116.3(PRF1):c.-53C>T	Familial hemophagocytic lymphohistiocytosis 2 [RCV000288926]	uncertain significance	10	70602667	70602667	Human	1	name
11635618	CV315856	single nucleotide variant	NM_001083116.3(PRF1):c.*96G>A	Familial hemophagocytic lymphohistiocytosis 2 [RCV000375811]\|not provided [RCV001689994]\|not specified [RCV003401289]	benign	10	70597957	70597957	Human	1	name
11661663	CV315859	single nucleotide variant	NM_001083116.3(PRF1):c.-41C>T	Familial hemophagocytic lymphohistiocytosis 2 [RCV000378819]	uncertain significance	10	70602655	70602655	Human	1	name
11607157	CV321888	single nucleotide variant	NM_001083116.3(PRF1):c.*46T>C	Familial hemophagocytic lymphohistiocytosis 2 [RCV000340273]\|not provided [RCV004692913]	uncertain significance	10	70598007	70598007	Human	1	name
11655334	CV322595	single nucleotide variant	NM_001083116.3(PRF1):c.-82G>A	Familial hemophagocytic lymphohistiocytosis 2 [RCV000325199]	uncertain significance	10	70602696	70602696	Human	1	name
11609483	CV310610	single nucleotide variant	NM_001083116.3(PRF1):c.*441G>A	Familial hemophagocytic lymphohistiocytosis 2 [RCV000369025]	uncertain significance	10	70597612	70597612	Human	1	name
11600487	CV310612	single nucleotide variant	NM_001083116.3(PRF1):c.*376G>A	Familial hemophagocytic lymphohistiocytosis 2 [RCV000274384]	uncertain significance	10	70597677	70597677	Human	1	name
11598939	CV310613	single nucleotide variant	NM_001083116.3(PRF1):c.*139C>A	Familial hemophagocytic lymphohistiocytosis 2 [RCV000261273]\|not provided [RCV004718278]	benign\|likely benign	10	70597914	70597914	Human	1	name
11652998	CV315850	single nucleotide variant	NM_001083116.3(PRF1):c.*664A>G	Familial hemophagocytic lymphohistiocytosis 2 [RCV000308463]	uncertain significance	10	70597389	70597389	Human	1	name
11600294	CV315853	single nucleotide variant	NM_001083116.3(PRF1):c.*521C>A	Familial hemophagocytic lymphohistiocytosis 2 [RCV000272788]	uncertain significance	10	70597532	70597532	Human	1	name
11610976	CV315854	deletion	NM_001083116.3(PRF1):c.*209del	Familial hemophagocytic lymphohistiocytosis [RCV000388575]\|not provided [RCV001689993]\|not specified [RCV003488510]	benign	10	70597844	70597844	Human	1	name
11610648	CV315860	single nucleotide variant	NM_001083116.3(PRF1):c.-109G>A	Familial hemophagocytic lymphohistiocytosis 2 [RCV000384556]	uncertain significance	10	70602723	70602723	Human	1	name
11609030	CV321876	single nucleotide variant	NM_001083116.3(PRF1):c.*559T>G	Familial hemophagocytic lymphohistiocytosis 2 [RCV000363189]	uncertain significance	10	70597494	70597494	Human	1	name
11606650	CV321886	single nucleotide variant	NM_001083116.3(PRF1):c.*367G>A	Familial hemophagocytic lymphohistiocytosis 2 [RCV000334200]	uncertain significance	10	70597686	70597686	Human	1	name
11653203	CV322582	single nucleotide variant	NM_001083116.3(PRF1):c.*486T>C	Familial hemophagocytic lymphohistiocytosis 2 [RCV000309711]	uncertain significance	10	70597567	70597567	Human	1	name
11654303	CV322585	single nucleotide variant	NM_001083116.3(PRF1):c.*112G>A	Familial hemophagocytic lymphohistiocytosis 2 [RCV000316602]	uncertain significance	10	70597941	70597941	Human	1	name
28907146	CV866085	single nucleotide variant	NM_001083116.3(PRF1):c.*540T>C	Familial hemophagocytic lymphohistiocytosis 2 [RCV001107059]	uncertain significance	10	70597513	70597513	Human	1	name
28908243	CV866086	single nucleotide variant	NM_001083116.3(PRF1):c.*366C>T	Familial hemophagocytic lymphohistiocytosis 2 [RCV001107727]	likely benign	10	70597687	70597687	Human	1	name
28908246	CV866087	single nucleotide variant	NM_001083116.3(PRF1):c.*193A>G	Familial hemophagocytic lymphohistiocytosis 2 [RCV001107728]	uncertain significance	10	70597860	70597860	Human	1	name
28908249	CV866088	single nucleotide variant	NM_001083116.3(PRF1):c.*176A>T	Familial hemophagocytic lymphohistiocytosis 2 [RCV001107729]	uncertain significance	10	70597877	70597877	Human	1	name
28908252	CV866089	single nucleotide variant	NM_001083116.3(PRF1):c.*174T>C	Familial hemophagocytic lymphohistiocytosis 2 [RCV001107730]	likely benign	10	70597879	70597879	Human	1	name
28908255	CV866090	single nucleotide variant	NM_001083116.3(PRF1):c.*139C>T	Familial hemophagocytic lymphohistiocytosis 2 [RCV001107731]\|not provided [RCV004718821]	benign	10	70597914	70597914	Human	1	name
28907491	CV866099	single nucleotide variant	NM_001083116.2(PRF1):c.-134A>C	Familial hemophagocytic lymphohistiocytosis 2 [RCV001107251]	uncertain significance	10	70602748	70602748	Human	1	name
28901545	CV868486	single nucleotide variant	NM_001083116.1(PRF1):c.*715T>C	Familial hemophagocytic lymphohistiocytosis 2 [RCV001104305]	uncertain significance	10	70597338	70597338	Human	1	name
127243605	CV1098980	single nucleotide variant	NM_001083116.3(PRF1):c.540-4G>A	Familial hemophagocytic lymphohistiocytosis 2 [RCV001423982]	likely benign	10	70599185	70599185	Human	1	name
151766263	CV1516173	single nucleotide variant	NM_001083116.3(PRF1):c.539+5G>A	Familial hemophagocytic lymphohistiocytosis 2 [RCV002024918]	uncertain significance	10	70600359	70600359	Human	1	name
152173127	CV1572831	single nucleotide variant	NM_001083116.3(PRF1):c.539+8C>T	Familial hemophagocytic lymphohistiocytosis 2 [RCV002162695]	likely benign	10	70600356	70600356	Human	1	name
156010247	CV1880348	single nucleotide variant	NM_001083116.3(PRF1):c.540-5C>T	Familial hemophagocytic lymphohistiocytosis 2 [RCV003077045]	likely benign	10	70599186	70599186	Human	1	name
401918685	CV2794642	single nucleotide variant	NM_001083116.3(PRF1):c.540-1G>T	not specified [RCV003388316]	uncertain significance	10	70599182	70599182	Human		name
401948916	CV2835194	single nucleotide variant	NM_001083116.3(PRF1):c.539+2T>A	Aplastic anemia [RCV003472526]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV003626869]	pathogenic\|likely pathogenic	10	70600362	70600362	Human	3	name
405871032	CV3399192	single nucleotide variant	NM_001083116.3(PRF1):c.539+2T>G	Aplastic anemia [RCV004574623]	likely pathogenic	10	70600362	70600362	Human	2	name
407573491	CV3499269	single nucleotide variant	NM_001083116.3(PRF1):c.539+4A>G	not specified [RCV004701163]	uncertain significance	10	70600360	70600360	Human		name
150331644	CV1172127	single nucleotide variant	NM_001083116.3(PRF1):c.539+82C>T	not provided [RCV001538717]\|not specified [RCV003399337]	benign	10	70600282	70600282	Human		name
150450012	CV1254056	single nucleotide variant	NM_001083116.3(PRF1):c.539+61G>A	not provided [RCV001667693]\|not specified [RCV003401587]	benign	10	70600303	70600303	Human		name
152092262	CV1545017	single nucleotide variant	NM_001083116.3(PRF1):c.539+17G>A	Familial hemophagocytic lymphohistiocytosis 2 [RCV002171983]	likely benign	10	70600347	70600347	Human	1	name
152172244	CV1575771	single nucleotide variant	NM_001083116.3(PRF1):c.540-13T>C	Familial hemophagocytic lymphohistiocytosis 2 [RCV002183775]	likely benign	10	70599194	70599194	Human	1	name
152077642	CV1632909	single nucleotide variant	NM_001083116.3(PRF1):c.539+13G>A	Familial hemophagocytic lymphohistiocytosis 2 [RCV002170133]	likely benign	10	70600351	70600351	Human	1	name
152038901	CV1642431	single nucleotide variant	NM_001083116.3(PRF1):c.540-12C>G	Familial hemophagocytic lymphohistiocytosis 2 [RCV002107440]	likely benign	10	70599193	70599193	Human	1	name
11547369	CV253812	single nucleotide variant	NM_001083116.3(PRF1):c.539+22G>C	Familial hemophagocytic lymphohistiocytosis 2 [RCV005235219]\|Lymphoma, non-Hodgkin, familial [RCV003316376]\|not provided [RCV004705086]\|not specified [RCV000247668]	benign\|likely benign	10	70600342	70600342	Human	2	name
405004222	CV2892505	single nucleotide variant	NM_001083116.3(PRF1):c.540-11T>C	Familial hemophagocytic lymphohistiocytosis 2 [RCV003514158]	likely benign	10	70599192	70599192	Human	1	name
402489536	CV2939348	single nucleotide variant	NM_001083116.3(PRF1):c.539+14C>T	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627037]	likely benign	10	70600350	70600350	Human	1	name
402501201	CV2995017	single nucleotide variant	NM_001083116.3(PRF1):c.540-10C>T	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628257]	likely benign	10	70599191	70599191	Human	1	name
402482604	CV3022515	single nucleotide variant	NM_001083116.3(PRF1):c.540-18G>T	Familial hemophagocytic lymphohistiocytosis 2 [RCV003626220]	likely benign	10	70599199	70599199	Human	1	name
402493503	CV3070975	single nucleotide variant	NM_001083116.3(PRF1):c.540-14C>T	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627462]	likely benign	10	70599195	70599195	Human	1	name
405114263	CV3118715	single nucleotide variant	NM_001083116.3(PRF1):c.540-20A>G	Familial hemophagocytic lymphohistiocytosis 2 [RCV003813943]	likely benign	10	70599201	70599201	Human	1	name
597916242	CV3779335	single nucleotide variant	NM_001083116.3(PRF1):c.539+11G>C	Familial hemophagocytic lymphohistiocytosis 2 [RCV005129476]	likely benign	10	70600353	70600353	Human	1	name
150454795	CV1277067	deletion	NM_001083116.3(PRF1):c.208_209del	not provided [RCV001708859]	benign	10	70597844	70597845	Human		name
402494181	CV3074515	single nucleotide variant	NM_001083116.3(PRF1):c.6A>G (p.Ala2=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627540]	likely benign	10	70600897	70600897	Human	1	name
127242709	CV1077323	single nucleotide variant	NM_001083116.3(PRF1):c.15G>A (p.Leu5=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001393387]	likely benign	10	70600888	70600888	Human	1	name
152171444	CV1544169	single nucleotide variant	NM_001083116.3(PRF1):c.24G>T (p.Leu8=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002162115]	likely benign	10	70600879	70600879	Human	1	name
156266255	CV2170188	single nucleotide variant	NM_001083116.3(PRF1):c.12T>C (p.Arg4=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003026829]	likely benign	10	70600891	70600891	Human	1	name
597915496	CV3740730	single nucleotide variant	NM_001083116.3(PRF1):c.27C>T (p.Gly9=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV005074067]	likely benign	10	70600876	70600876	Human	1	name
597841668	CV3825563	single nucleotide variant	NM_001083116.3(PRF1):c.15G>C (p.Leu5=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV005172246]	likely benign	10	70600888	70600888	Human	1	name
126743651	CV1017308	single nucleotide variant	NM_001083116.3(PRF1):c.1A>G (p.Met1Val)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001330253]\|Familial hemophagocytic lymphohistiocytosis [RCV003230662]	pathogenic\|likely pathogenic	10	70600902	70600902	Human	2	name
127304819	CV1141380	single nucleotide variant	NM_001083116.3(PRF1):c.66G>A (p.Pro22=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001479614]\|PRF1-related disorder [RCV004754764]	likely benign	10	70600837	70600837	Human	1	name , trait , alternate_id
150546026	CV1291619	single nucleotide variant	NM_001083116.3(PRF1):c.3G>A (p.Met1Ile)	Aplastic anemia [RCV005040340]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001861038]\|Familial hemophagocytic lymphohistiocytosis [RCV001732821]\|not provided [RCV004812412]	pathogenic\|likely pathogenic	10	70600900	70600900	Human	4	name
151818570	CV1464019	single nucleotide variant	NM_001083116.3(PRF1):c.2T>C (p.Met1Thr)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001933918]	pathogenic	10	70600901	70600901	Human	1	name
152132941	CV1557362	single nucleotide variant	NM_001083116.3(PRF1):c.69C>T (p.Cys23=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002137166]	likely benign	10	70600834	70600834	Human	1	name
152116022	CV1645562	single nucleotide variant	NM_001083116.3(PRF1):c.48C>T (p.Pro16=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002174939]	likely benign	10	70600855	70600855	Human	1	name
156298984	CV1932764	single nucleotide variant	NM_001083116.3(PRF1):c.36C>T (p.Leu12=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002647542]\|not provided [RCV004707816]	likely benign	10	70600867	70600867	Human	1	name
156241144	CV1992556	single nucleotide variant	NM_001083116.3(PRF1):c.54C>T (p.Pro18=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002627135]\|PRF1-related disorder [RCV003936285]	likely benign	10	70600849	70600849	Human	1	name , trait , alternate_id
402495582	CV2970754	single nucleotide variant	NM_001083116.3(PRF1):c.36C>G (p.Leu12=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627730]	likely benign	10	70600867	70600867	Human	1	name
402498570	CV2981837	single nucleotide variant	NM_001083116.3(PRF1):c.78C>G (p.Ala26=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628023]	likely benign	10	70600825	70600825	Human	1	name
402501765	CV2996738	single nucleotide variant	NM_001083116.3(PRF1):c.75A>G (p.Thr25=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628375]	likely benign	10	70600828	70600828	Human	1	name
402502647	CV3004964	single nucleotide variant	NM_001083116.3(PRF1):c.60T>C (p.Pro20=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628475]	likely benign	10	70600843	70600843	Human	1	name
402503212	CV3009491	single nucleotide variant	NM_001083116.3(PRF1):c.45G>A (p.Leu15=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628535]	likely benign	10	70600858	70600858	Human	1	name
402484052	CV3024329	single nucleotide variant	NM_001083116.3(PRF1):c.33T>C (p.Leu11=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003626363]	likely benign	10	70600870	70600870	Human	1	name
597929132	CV3779759	single nucleotide variant	NM_001083116.3(PRF1):c.60T>G (p.Pro20=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV005116288]	likely benign	10	70600843	70600843	Human	1	name
13491225	CV460248	single nucleotide variant	NM_001083116.3(PRF1):c.96G>A (p.Lys32=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000556551]\|Lymphoma, non-Hodgkin, familial [RCV003316712]\|PRF1-related disorder [RCV003925659]\|not provided [RCV001703198]\|not specified [RCV001727747]	benign\|likely benign	10	70600807	70600807	Human	2	name , trait , alternate_id
28902003	CV866098	single nucleotide variant	NM_001083116.3(PRF1):c.3G>T (p.Met1Ile)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001104484]	uncertain significance	10	70600900	70600900	Human	1	name
127287914	CV1120554	single nucleotide variant	NM_001083116.3(PRF1):c.273G>A (p.Ala91=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001450285]	likely benign	10	70600630	70600630	Human	1	name
151748314	CV1362511	single nucleotide variant	NM_001083116.3(PRF1):c.168G>A (p.Ser56=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001968901]	likely benign\|uncertain significance	10	70600735	70600735	Human	1	name
151719088	CV1397494	single nucleotide variant	NM_001083116.3(PRF1):c.19C>T (p.Leu7Phe)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001982773]	uncertain significance	10	70600884	70600884	Human	1	name
152060052	CV1536217	single nucleotide variant	NM_001083116.3(PRF1):c.210C>T (p.Asp70=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002146665]	likely benign	10	70600693	70600693	Human	1	name
152123138	CV1603110	single nucleotide variant	NM_001083116.3(PRF1):c.147C>T (p.Asp49=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002198325]	likely benign	10	70600756	70600756	Human	1	name
152036921	CV1605698	single nucleotide variant	NM_001083116.3(PRF1):c.225C>T (p.Leu75=)	Autoinflammatory syndrome [RCV002261446]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV002107144]	likely benign\|uncertain significance	10	70600678	70600678	Human	2	name
152122382	CV1613530	single nucleotide variant	NM_001083116.3(PRF1):c.270G>C (p.Leu90=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002081730]	likely benign	10	70600633	70600633	Human	1	name
156296972	CV1900933	single nucleotide variant	NM_001083116.3(PRF1):c.132C>T (p.Ala44=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002598991]	likely benign	10	70600771	70600771	Human	1	name
156210393	CV2117705	single nucleotide variant	NM_001083116.3(PRF1):c.108G>A (p.Lys36=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002957719]	likely benign	10	70600795	70600795	Human	1	name
156237905	CV2155906	single nucleotide variant	NM_001083116.3(PRF1):c.123A>G (p.Ala41=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003007990]	likely benign	10	70600780	70600780	Human	1	name
243055794	CV2416517	deletion	NM_001083116.3(PRF1):c.65del (p.Pro22fs)	Aplastic anemia [RCV003459788]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV003150600]	pathogenic	10	70600838	70600838	Human	3	name
401749468	CV2703116	single nucleotide variant	NM_001083116.3(PRF1):c.16C>T (p.Leu6Phe)	Inborn genetic diseases [RCV003242747]	uncertain significance	10	70600887	70600887	Human	1	name
405018802	CV2875460	single nucleotide variant	NM_001083116.3(PRF1):c.171C>T (p.Gly57=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003515692]	likely benign	10	70600732	70600732	Human	1	name
8563849	CV28759	single nucleotide variant	NM_001083116.3(PRF1):c.11G>A (p.Arg4His)	Aplastic anemia [RCV000014723]\|Autoinflammatory syndrome [RCV002260968]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000545742]\|not provided [RCV000425105]\|not specified [RCV000242526]	pathogenic\|benign\|likely benign	10	70600892	70600892	Human	4	name
405005094	CV2889315	single nucleotide variant	NM_001083116.3(PRF1):c.202C>A (p.Arg68=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003514252]	likely benign	10	70600701	70600701	Human	1	name
402489455	CV2946098	single nucleotide variant	NM_001083116.3(PRF1):c.162C>A (p.Arg54=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627029]	likely benign	10	70600741	70600741	Human	1	name
402489641	CV2953172	single nucleotide variant	NM_001083116.3(PRF1):c.216C>A (p.Thr72=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627049]	likely benign	10	70600687	70600687	Human	1	name
402495447	CV2967172	single nucleotide variant	NM_001083116.3(PRF1):c.219C>T (p.Cys73=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627715]	likely benign	10	70600684	70600684	Human	1	name
402495843	CV2967887	single nucleotide variant	NM_001083116.3(PRF1):c.216C>T (p.Thr72=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627758]	likely benign	10	70600687	70600687	Human	1	name
402500552	CV2991194	duplication	NM_001083116.3(PRF1):c.65dup (p.Cys23fs)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628233]	pathogenic	10	70600837	70600838	Human	1	name
402501774	CV2996840	single nucleotide variant	NM_001083116.3(PRF1):c.273G>T (p.Ala91=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628376]	likely benign	10	70600630	70600630	Human	1	name
402481605	CV3017482	single nucleotide variant	NM_001083116.3(PRF1):c.123A>C (p.Ala41=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003626125]	likely benign	10	70600780	70600780	Human	1	name
402483539	CV3026738	single nucleotide variant	NM_001083116.3(PRF1):c.165C>T (p.Arg55=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003626312]	likely benign	10	70600738	70600738	Human	1	name
402485677	CV3046350	single nucleotide variant	NM_001083116.3(PRF1):c.204G>A (p.Arg68=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003626547]	likely benign	10	70600699	70600699	Human	1	name
402490422	CV3054476	single nucleotide variant	NM_001083116.3(PRF1):c.207C>T (p.Pro69=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627133]	likely benign	10	70600696	70600696	Human	1	name
405150885	CV3123359	single nucleotide variant	NM_001083116.3(PRF1):c.195G>A (p.Arg65=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003817592]	likely benign	10	70600708	70600708	Human	1	name
405016329	CV3139087	single nucleotide variant	NM_001083116.3(PRF1):c.297C>T (p.Gly99=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003829424]	likely benign	10	70600606	70600606	Human	1	name
11598785	CV321901	single nucleotide variant	NM_001083116.3(PRF1):c.286C>A (p.Arg96=)	Autoinflammatory syndrome [RCV002261038]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000919658]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	70600617	70600617	Human	2	name
11608735	CV322594	single nucleotide variant	NM_001083116.3(PRF1):c.132C>A (p.Ala44=)	Autoinflammatory syndrome [RCV002261039]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000884271]\|not provided [RCV003129826]\|not specified [RCV003151017]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	70600771	70600771	Human	2	name
596948261	CV3549342	single nucleotide variant	NM_001083116.3(PRF1):c.117T>C (p.Pro39=)	not provided [RCV004812162]	likely benign	10	70600786	70600786	Human		name
597944929	CV3776733	single nucleotide variant	NM_001083116.3(PRF1):c.150G>A (p.Val50=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV005119589]	likely benign	10	70600753	70600753	Human	1	name
597919851	CV3811710	single nucleotide variant	NM_001083116.3(PRF1):c.120T>C (p.Gly40=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV005155541]	likely benign	10	70600783	70600783	Human	1	name
597947253	CV3817866	single nucleotide variant	NM_001083116.3(PRF1):c.120T>G (p.Gly40=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV005160333]	likely benign	10	70600783	70600783	Human	1	name
13502336	CV460250	deletion	NM_001083116.3(PRF1):c.50del (p.Leu17fs)	Aplastic anemia [RCV002506353]\|Aplastic anemia [RCV003476293]\|Autoinflammatory syndrome [RCV002261110]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000541899]\|Familial hemophagocytic lymphohistiocytosis [RCV001201274]\|PRF1-related disorder [RCV003419965]\|no ... (more) t provided [RCV000627438]	pathogenic	10	70600853	70600853	Human	6	name , trait , alternate_id
13492424	CV460936	single nucleotide variant	NM_001083116.3(PRF1):c.180A>G (p.Pro60=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000534941]	likely benign	10	70600723	70600723	Human	1	name
13608839	CV525345	single nucleotide variant	NM_001083116.3(PRF1):c.240A>T (p.Leu80=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000644570]	likely benign	10	70600663	70600663	Human	1	name
13608824	CV525349	single nucleotide variant	NM_001083116.3(PRF1):c.10C>T (p.Arg4Cys)	Aplastic anemia [RCV001281044]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000644562]\|PRF1-related disorder [RCV003918043]\|not specified [RCV001816601]	likely benign\|uncertain significance	10	70600893	70600893	Human	4	name , trait , alternate_id
15149278	CV712454	single nucleotide variant	NM_001083116.3(PRF1):c.111C>T (p.Phe37=)	Autoinflammatory syndrome [RCV002261242]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000967724]\|PRF1-related disorder [RCV004754654]	benign\|likely benign\|conflicting interpretations of pathogenicity	10	70600792	70600792	Human	2	name , trait , alternate_id
15196883	CV767885	single nucleotide variant	NM_001083116.3(PRF1):c.189A>C (p.Thr63=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001102562]\|not provided [RCV003413736]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	70600714	70600714	Human	1	name
26898410	CV837180	single nucleotide variant	NM_001083116.3(PRF1):c.26G>T (p.Gly9Val)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001037176]	uncertain significance	10	70600877	70600877	Human	1	name
126764019	CV1029707	single nucleotide variant	NM_001083116.3(PRF1):c.83G>A (p.Arg28His)	Aplastic anemia [RCV002493749]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001341498]	uncertain significance	10	70600820	70600820	Human	3	name
126760777	CV1029708	single nucleotide variant	NM_001083116.3(PRF1):c.46C>T (p.Pro16Ser)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001340503]\|PRF1-related disorder [RCV003898324]\|See cases [RCV002252366]\|not specified [RCV004699318]	uncertain significance	10	70600857	70600857	Human	1	name , trait , alternate_id
126914769	CV1046709	single nucleotide variant	NM_001083116.3(PRF1):c.369T>C (p.Arg123=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001359658]	likely benign\|uncertain significance	10	70600534	70600534	Human	1	name
127261314	CV1077321	single nucleotide variant	NM_001083116.3(PRF1):c.948C>T (p.Phe316=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001402386]\|PRF1-related disorder [RCV003920881]	likely benign	10	70598773	70598773	Human	1	name , trait , alternate_id
127279795	CV1077322	single nucleotide variant	NM_001083116.3(PRF1):c.762G>A (p.Val254=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001409339]	likely benign	10	70598959	70598959	Human	1	name
127247570	CV1098976	single nucleotide variant	NM_001083116.3(PRF1):c.999C>T (p.Pro333=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001424733]\|not specified [RCV001820120]	likely benign	10	70598722	70598722	Human	1	name
127283252	CV1098977	single nucleotide variant	NM_001083116.3(PRF1):c.936C>T (p.Asn312=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001448409]	likely benign	10	70598785	70598785	Human	1	name
127248860	CV1098978	single nucleotide variant	NM_001083116.3(PRF1):c.657C>T (p.Tyr219=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001425008]	likely benign	10	70599064	70599064	Human	1	name
127238526	CV1098979	single nucleotide variant	NM_001083116.3(PRF1):c.585G>A (p.Arg195=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001433797]	likely benign	10	70599136	70599136	Human	1	name
127330255	CV1120548	single nucleotide variant	NM_001083116.3(PRF1):c.993G>A (p.Ser331=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001470767]	likely benign	10	70598728	70598728	Human	1	name
127311102	CV1120549	single nucleotide variant	NM_001083116.3(PRF1):c.969G>A (p.Glu323=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001464089]	likely benign	10	70598752	70598752	Human	1	name
127326767	CV1120550	single nucleotide variant	NM_001083116.3(PRF1):c.945G>A (p.Leu315=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001468873]	likely benign	10	70598776	70598776	Human	1	name
127314500	CV1120551	single nucleotide variant	NM_001083116.3(PRF1):c.903G>A (p.Ser301=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001464992]	likely benign	10	70598818	70598818	Human	1	name
127300112	CV1120552	single nucleotide variant	NM_001083116.3(PRF1):c.867G>A (p.Thr289=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001453771]	likely benign	10	70598854	70598854	Human	1	name
127328819	CV1120553	single nucleotide variant	NM_001083116.3(PRF1):c.507C>T (p.Phe169=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001469825]	likely benign	10	70600396	70600396	Human	1	name
127333281	CV1141377	single nucleotide variant	NM_001083116.3(PRF1):c.489C>T (p.His163=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001490076]	likely benign	10	70600414	70600414	Human	1	name
127303505	CV1141378	single nucleotide variant	NM_001083116.3(PRF1):c.342T>C (p.Thr114=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001479260]	likely benign	10	70600561	70600561	Human	1	name
127311584	CV1141379	single nucleotide variant	NM_001083116.3(PRF1):c.339C>T (p.Ser113=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001501643]	likely benign	10	70600564	70600564	Human	1	name
150408877	CV1182244	single nucleotide variant	NM_001083116.3(PRF1):c.91T>G (p.Cys31Gly)	Familial hemophagocytic lymphohistiocytosis [RCV001553653]	pathogenic\|likely pathogenic	10	70600812	70600812	Human	1	name
151735172	CV1440615	single nucleotide variant	NM_001083116.3(PRF1):c.72C>A (p.His24Gln)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001911306]	uncertain significance	10	70600831	70600831	Human	1	name
151753564	CV1509083	single nucleotide variant	NM_001083116.3(PRF1):c.86C>T (p.Ser29Leu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002043535]	uncertain significance	10	70600817	70600817	Human	1	name
152141754	CV1526553	single nucleotide variant	NM_001083116.3(PRF1):c.756C>T (p.Asn252=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002084247]	likely benign	10	70598965	70598965	Human	1	name
152106312	CV1527344	single nucleotide variant	NM_001083116.3(PRF1):c.711T>C (p.Thr237=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002079657]	likely benign	10	70599010	70599010	Human	1	name
152117846	CV1538953	single nucleotide variant	NM_001083116.3(PRF1):c.966C>T (p.Pro322=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002175172]	likely benign	10	70598755	70598755	Human	1	name
152164721	CV1543584	single nucleotide variant	NM_001083116.3(PRF1):c.894G>A (p.Glu298=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002123860]	likely benign	10	70598827	70598827	Human	1	name
152080943	CV1548181	single nucleotide variant	NM_001083116.3(PRF1):c.687G>T (p.Leu229=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002076358]	likely benign	10	70599034	70599034	Human	1	name
152059120	CV1559000	single nucleotide variant	NM_001083116.3(PRF1):c.693C>T (p.Gly231=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002167787]	likely benign	10	70599028	70599028	Human	1	name
152064696	CV1575945	single nucleotide variant	NM_001083116.3(PRF1):c.924C>T (p.His308=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002209158]	likely benign	10	70598797	70598797	Human	1	name
152028481	CV1586955	single nucleotide variant	NM_001083116.3(PRF1):c.363G>A (p.Ala121=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002085477]	benign	10	70600540	70600540	Human	1	name
152150049	CV1601682	single nucleotide variant	NM_001083116.3(PRF1):c.915C>T (p.Gly305=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002158042]	likely benign	10	70598806	70598806	Human	1	name
152141290	CV1618673	single nucleotide variant	NM_001083116.3(PRF1):c.393C>A (p.Val131=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002156801]	likely benign	10	70600510	70600510	Human	1	name
156213248	CV1869103	single nucleotide variant	NM_001083116.3(PRF1):c.381C>T (p.Asn127=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003058615]	likely benign	10	70600522	70600522	Human	1	name
156052390	CV1881749	single nucleotide variant	NM_001083116.3(PRF1):c.717G>T (p.Leu239=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003078923]	likely benign	10	70599004	70599004	Human	1	name
156074713	CV1890077	single nucleotide variant	NM_001083116.3(PRF1):c.750G>A (p.Thr250=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003079662]	likely benign	10	70598971	70598971	Human	1	name
156303170	CV1933618	single nucleotide variant	NM_001083116.3(PRF1):c.939C>T (p.Asp313=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002629353]	likely benign	10	70598782	70598782	Human	1	name
156435272	CV1940651	single nucleotide variant	NM_001083116.3(PRF1):c.564G>A (p.Pro188=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003104762]	likely benign	10	70599157	70599157	Human	1	name
156437551	CV1947558	single nucleotide variant	NM_001083116.3(PRF1):c.772C>T (p.Leu258=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003107090]	likely benign	10	70598949	70598949	Human	1	name
156393439	CV2002414	single nucleotide variant	NM_001083116.3(PRF1):c.720C>T (p.Arg240=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002680995]	likely benign	10	70599001	70599001	Human	1	name
156281684	CV2042875	single nucleotide variant	NM_001083116.3(PRF1):c.954C>T (p.Ile318=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002770410]	likely benign	10	70598767	70598767	Human	1	name
156263964	CV2100815	single nucleotide variant	NM_001083116.3(PRF1):c.747C>T (p.Leu249=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002877370]	likely benign	10	70598974	70598974	Human	1	name
155908936	CV2131013	single nucleotide variant	NM_001083116.3(PRF1):c.843G>A (p.Glu281=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002967899]	likely benign	10	70598878	70598878	Human	1	name
329351282	CV2476440	deletion	NM_001083116.3(PRF1):c.150del (p.Thr51fs)	Aplastic anemia [RCV003459807]\|Aplastic anemia [RCV005047465]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV003514619]\|Familial hemophagocytic lymphohistiocytosis [RCV003988093]\|not provided [RCV003222672]	pathogenic	10	70600753	70600753	Human	4	name
11548262	CV253807	single nucleotide variant	NM_001083116.3(PRF1):c.900C>T (p.His300=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000600328]\|Lymphoma, non-Hodgkin, familial [RCV003316379]\|not provided [RCV001824710]\|not specified [RCV000248849]	benign\|not provided	10	70598821	70598821	Human	2	name
11544064	CV253808	single nucleotide variant	NM_001083116.3(PRF1):c.822C>T (p.Ala274=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000347273]\|Lymphoma, non-Hodgkin, familial [RCV003316378]\|not provided [RCV001824709]\|not specified [RCV000243295]	benign\|likely benign\|not provided	10	70598899	70598899	Human	2	name
11550094	CV253809	single nucleotide variant	NM_001083116.3(PRF1):c.807C>T (p.His269=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000644569]\|not provided [RCV003417857]\|not specified [RCV000251283]	benign\|likely benign\|conflicting interpretations of pathogenicity	10	70598914	70598914	Human	1	name
11542902	CV253810	single nucleotide variant	NM_001083116.3(PRF1):c.726C>T (p.Cys242=)	Autoinflammatory syndrome [RCV002261024]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000543758]\|Lymphoma, non-Hodgkin, familial [RCV003316377]\|not provided [RCV004705087]\|not specified [RCV000241754]	benign\|likely benign	10	70598995	70598995	Human	3	name
11551107	CV253811	single nucleotide variant	NM_001083116.3(PRF1):c.630C>T (p.Pro210=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000644574]\|not specified [RCV000252613]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	70599091	70599091	Human	1	name
11543919	CV253813	single nucleotide variant	NM_001083116.3(PRF1):c.528C>T (p.Cys176=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000644567]\|not provided [RCV001699270]\|not specified [RCV000243102]	benign\|likely benign	10	70600375	70600375	Human	1	name
11550069	CV253814	single nucleotide variant	NM_001083116.3(PRF1):c.462A>G (p.Ala154=)	Autoinflammatory syndrome [RCV002261023]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000525080]\|not provided [RCV001552962]\|not specified [RCV000251254]	benign\|likely benign\|uncertain significance	10	70600441	70600441	Human	2	name
11545860	CV253815	single nucleotide variant	NM_001083116.3(PRF1):c.435G>A (p.Val145=)	Autoinflammatory syndrome [RCV002261022]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000536012]\|Lymphoma, non-Hodgkin, familial [RCV003316375]\|not provided [RCV001577740]\|not specified [RCV000245707]	benign\|likely benign	10	70600468	70600468	Human	3	name
405015664	CV2855551	single nucleotide variant	NM_001083116.3(PRF1):c.378C>T (p.Arg126=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003515377]	likely benign	10	70600525	70600525	Human	1	name
405016973	CV2855757	single nucleotide variant	NM_001083116.3(PRF1):c.564G>T (p.Pro188=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003515421]	likely benign	10	70599157	70599157	Human	1	name
405016702	CV2856655	single nucleotide variant	NM_001083116.3(PRF1):c.804C>T (p.Ile268=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003515515]	likely benign	10	70598917	70598917	Human	1	name
405014585	CV2865030	single nucleotide variant	NM_001083116.3(PRF1):c.312C>T (p.Arg104=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003515290]	likely benign	10	70600591	70600591	Human	1	name
405015366	CV2865356	single nucleotide variant	NM_001083116.3(PRF1):c.732G>T (p.Leu244=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003515344]	likely benign	10	70598989	70598989	Human	1	name
405017315	CV2867104	single nucleotide variant	NM_001083116.3(PRF1):c.366T>A (p.Ala122=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003515553]	likely benign	10	70600537	70600537	Human	1	name
405017893	CV2867373	single nucleotide variant	NM_001083116.3(PRF1):c.576C>T (p.Asp192=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003515607]	likely benign	10	70599145	70599145	Human	1	name
405018305	CV2871453	single nucleotide variant	NM_001083116.3(PRF1):c.453C>T (p.His151=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003515646]	likely benign	10	70600450	70600450	Human	1	name
405018934	CV2871896	single nucleotide variant	NM_001083116.3(PRF1):c.366T>C (p.Ala122=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003515704]	likely benign	10	70600537	70600537	Human	1	name
8563851	CV28761	deletion	NM_001083116.3(PRF1):c.207del (p.Asp70fs)	Aplastic anemia [RCV003460477]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000014725]	pathogenic	10	70600696	70600696	Human	3	name
405024537	CV2894112	single nucleotide variant	NM_001083116.3(PRF1):c.870C>G (p.Ala290=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003516246]	likely benign	10	70598851	70598851	Human	1	name
405009940	CV2903988	single nucleotide variant	NM_001083116.3(PRF1):c.582G>A (p.Lys194=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003514836]	likely benign	10	70599139	70599139	Human	1	name
405030657	CV2907176	single nucleotide variant	NM_001083116.3(PRF1):c.966C>G (p.Pro322=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003516624]	likely benign	10	70598755	70598755	Human	1	name
405022450	CV2923945	single nucleotide variant	NM_001083116.3(PRF1):c.447C>T (p.Gly149=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003516046]	likely benign	10	70600456	70600456	Human	1	name
405022854	CV2924366	single nucleotide variant	NM_001083116.3(PRF1):c.465C>A (p.Ala155=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003516085]	likely benign	10	70600438	70600438	Human	1	name
405020331	CV2925456	single nucleotide variant	NM_001083116.3(PRF1):c.774G>A (p.Leu258=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003515839]	likely benign	10	70598947	70598947	Human	1	name
405021750	CV2927033	single nucleotide variant	NM_001083116.3(PRF1):c.426T>C (p.Asn142=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003515981]	likely benign	10	70600477	70600477	Human	1	name
402494439	CV2950828	single nucleotide variant	NM_001083116.3(PRF1):c.321C>T (p.Thr107=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627596]	likely benign	10	70600582	70600582	Human	1	name
402489627	CV2953073	single nucleotide variant	NM_001083116.3(PRF1):c.348T>C (p.Ala116=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627047]	likely benign	10	70600555	70600555	Human	1	name
402495098	CV2955984	single nucleotide variant	NM_001083116.3(PRF1):c.549G>A (p.Val183=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627674]	likely benign	10	70599172	70599172	Human	1	name
402489774	CV2960188	single nucleotide variant	NM_001083116.3(PRF1):c.723C>T (p.Thr241=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627064]	likely benign	10	70598998	70598998	Human	1	name
402494487	CV2961073	single nucleotide variant	NM_001083116.3(PRF1):c.789G>A (p.Gln263=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627602]	likely benign	10	70598932	70598932	Human	1	name
402495674	CV2963866	single nucleotide variant	NM_001083116.3(PRF1):c.429G>C (p.Val143=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627740]	likely benign	10	70600474	70600474	Human	1	name
402499260	CV2986541	single nucleotide variant	NM_001083116.3(PRF1):c.696C>T (p.Arg232=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628123]	likely benign	10	70599025	70599025	Human	1	name
402499742	CV2990011	single nucleotide variant	NM_001083116.3(PRF1):c.429G>A (p.Val143=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628147]	likely benign	10	70600474	70600474	Human	1	name
402502054	CV2993828	single nucleotide variant	NM_001083116.3(PRF1):c.420C>A (p.Thr140=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628410]	likely benign	10	70600483	70600483	Human	1	name
402501482	CV2999754	single nucleotide variant	NM_001083116.3(PRF1):c.999C>G (p.Pro333=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628339]	likely benign	10	70598722	70598722	Human	1	name
402500416	CV3001331	single nucleotide variant	NM_001083116.3(PRF1):c.565C>T (p.Leu189=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628218]	likely benign	10	70599156	70599156	Human	1	name
402500957	CV3002375	single nucleotide variant	NM_001083116.3(PRF1):c.876C>T (p.Phe292=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628299]	likely benign	10	70598845	70598845	Human	1	name
402502907	CV3005296	single nucleotide variant	NM_001083116.3(PRF1):c.642G>A (p.Arg214=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628503]	likely benign	10	70599079	70599079	Human	1	name
402483266	CV3026562	single nucleotide variant	NM_001083116.3(PRF1):c.810C>T (p.Gly270=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003626284]	likely benign	10	70598911	70598911	Human	1	name
402483559	CV3026890	single nucleotide variant	NM_001083116.3(PRF1):c.342T>G (p.Thr114=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003626315]	likely benign	10	70600561	70600561	Human	1	name
402484160	CV3031225	single nucleotide variant	NM_001083116.3(PRF1):c.684G>A (p.Glu228=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003626374]	likely benign	10	70599037	70599037	Human	1	name
402484652	CV3035192	single nucleotide variant	NM_001083116.3(PRF1):c.465C>T (p.Ala155=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003626422]	likely benign	10	70600438	70600438	Human	1	name
402485241	CV3041926	single nucleotide variant	NM_001083116.3(PRF1):c.897C>G (p.Arg299=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003626478]	likely benign	10	70598824	70598824	Human	1	name
402485714	CV3046479	single nucleotide variant	NM_001083116.3(PRF1):c.597C>T (p.Asp199=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003626551]	likely benign	10	70599124	70599124	Human	1	name
402491101	CV3052312	single nucleotide variant	NM_001083116.3(PRF1):c.957G>A (p.Gln319=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627225]	likely benign	10	70598764	70598764	Human	1	name
402491180	CV3055166	single nucleotide variant	NM_001083116.3(PRF1):c.600G>A (p.Leu200=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627175]	likely benign	10	70599121	70599121	Human	1	name
402494241	CV3075067	single nucleotide variant	NM_001083116.3(PRF1):c.594G>A (p.Gly198=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627572]	likely benign	10	70599127	70599127	Human	1	name
11599278	CV310619	single nucleotide variant	NM_001083116.3(PRF1):c.55G>A (p.Val19Ile)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000264510]	uncertain significance	10	70600848	70600848	Human	1	name
405204166	CV3116832	single nucleotide variant	NM_001083116.3(PRF1):c.315T>C (p.His105=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003822316]	likely benign	10	70600588	70600588	Human	1	name
405201669	CV3129043	single nucleotide variant	NM_001083116.3(PRF1):c.738G>A (p.Leu246=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003822086]	likely benign	10	70598983	70598983	Human	1	name
405133112	CV3130154	single nucleotide variant	NM_001083116.3(PRF1):c.870C>T (p.Ala290=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003838577]	likely benign	10	70598851	70598851	Human	1	name
405169786	CV3151572	single nucleotide variant	NM_001083116.3(PRF1):c.531C>T (p.Arg177=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003857723]	likely benign	10	70600372	70600372	Human	1	name
405140278	CV3155133	single nucleotide variant	NM_001083116.3(PRF1):c.537C>T (p.Tyr179=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003855371]	likely benign	10	70600366	70600366	Human	1	name
11611744	CV315857	single nucleotide variant	NM_001083116.3(PRF1):c.591C>T (p.Leu197=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000399362]	conflicting interpretations of pathogenicity\|uncertain significance	10	70599130	70599130	Human	1	name
405238678	CV3165759	single nucleotide variant	NM_001083116.3(PRF1):c.546T>C (p.His182=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003866771]	likely benign	10	70599175	70599175	Human	1	name
405197552	CV3168281	single nucleotide variant	NM_001083116.3(PRF1):c.513T>C (p.Thr171=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003860413]	likely benign	10	70600390	70600390	Human	1	name
402480606	CV3170707	single nucleotide variant	NM_001083116.3(PRF1):c.477C>G (p.Ala159=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003875909]	likely benign	10	70600426	70600426	Human	1	name
405240849	CV3176820	single nucleotide variant	NM_001083116.3(PRF1):c.408T>G (p.Thr136=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003867258]	likely benign	10	70600495	70600495	Human	1	name
402510684	CV3178320	single nucleotide variant	NM_001083116.3(PRF1):c.552A>G (p.Val184=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003878937]	likely benign	10	70599169	70599169	Human	1	name
402511695	CV3178402	single nucleotide variant	NM_001083116.3(PRF1):c.960C>T (p.Ala320=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003879019]	likely benign	10	70598761	70598761	Human	1	name
402489812	CV3182243	single nucleotide variant	NM_001083116.3(PRF1):c.34C>G (p.Leu12Val)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003876729]	uncertain significance	10	70600869	70600869	Human	1	name
597670479	CV3726449	deletion	NM_001083116.3(PRF1):c.242del (p.Gln81fs)	Aplastic anemia [RCV005043883]	likely pathogenic	10	70600661	70600661	Human	2	name
597946861	CV3771552	single nucleotide variant	NM_001083116.3(PRF1):c.801C>T (p.Gly267=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV005120077]	likely benign	10	70598920	70598920	Human	1	name
13488234	CV460116	single nucleotide variant	NM_001083116.3(PRF1):c.879C>T (p.His293=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000532251]	likely benign	10	70598842	70598842	Human	1	name
13485680	CV460124	single nucleotide variant	NM_001083116.3(PRF1):c.702G>A (p.Ser234=)	Autoinflammatory syndrome [RCV002261112]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000530867]\|Lymphoma, non-Hodgkin, familial [RCV003316711]\|not provided [RCV004718726]\|not specified [RCV003151095]	benign\|likely benign	10	70599019	70599019	Human	3	name
13473149	CV460126	single nucleotide variant	NM_001083116.3(PRF1):c.615C>T (p.Asn205=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000525247]\|PRF1-related disorder [RCV003960340]	benign\|likely benign	10	70599106	70599106	Human	1	name , trait , alternate_id
13495656	CV460228	single nucleotide variant	NM_001083116.3(PRF1):c.990C>T (p.Asn330=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001458651]	likely benign	10	70598731	70598731	Human	1	name
13475922	CV460504	single nucleotide variant	NM_001083116.3(PRF1):c.444C>T (p.Ala148=)	Autoinflammatory syndrome [RCV002263781]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000548941]\|Lymphoma, non-Hodgkin, familial [RCV003316709]\|not provided [RCV004808771]	benign\|likely benign	10	70600459	70600459	Human	3	name
13608842	CV525531	single nucleotide variant	NM_001083116.3(PRF1):c.519G>C (p.Thr173=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000644571]\|PRF1-related disorder [RCV003928094]	benign\|likely benign\|conflicting interpretations of pathogenicity	10	70600384	70600384	Human	1	name , trait , alternate_id
13837985	CV589284	single nucleotide variant	NM_001083116.3(PRF1):c.82C>T (p.Arg28Cys)	Aplastic anemia [RCV005392345]\|Autoinflammatory syndrome [RCV002261199]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001085710]\|not provided [RCV000734558]\|not specified [RCV002271577]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	70600821	70600821	Human	4	name
14699129	CV624409	single nucleotide variant	NM_001083116.3(PRF1):c.89A>C (p.Glu30Ala)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002536904]\|not provided [RCV000788359]	uncertain significance	10	70600814	70600814	Human	1	name
14724830	CV639121	single nucleotide variant	NM_001083116.3(PRF1):c.98G>A (p.Arg33His)	Aplastic anemia [RCV002507380]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000798555]	uncertain significance	10	70600805	70600805	Human	3	name
14728594	CV639122	single nucleotide variant	NM_001083116.3(PRF1):c.79G>A (p.Ala27Thr)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000800126]\|Inborn genetic diseases [RCV004028015]\|not provided [RCV004693284]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	70600824	70600824	Human	2	name
14726600	CV639123	single nucleotide variant	NM_001083116.3(PRF1):c.65C>T (p.Pro22Leu)	Aplastic anemia [RCV001281045]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000815697]	uncertain significance	10	70600838	70600838	Human	3	name
14705627	CV639124	single nucleotide variant	NM_001083116.3(PRF1):c.53C>A (p.Pro18His)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000808171]	uncertain significance	10	70600850	70600850	Human	1	name
15182616	CV712451	single nucleotide variant	NM_001083116.3(PRF1):c.873C>T (p.Ser291=)	Autoinflammatory syndrome [RCV002261245]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000974675]\|not provided [RCV004718803]	benign\|uncertain significance	10	70598848	70598848	Human	2	name
15171334	CV712452	single nucleotide variant	NM_001083116.3(PRF1):c.519G>A (p.Thr173=)	Autoinflammatory syndrome [RCV002261243]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000972178]\|not provided [RCV003413764]\|not specified [RCV001819120]	likely benign\|conflicting interpretations of pathogenicity	10	70600384	70600384	Human	2	name
15099089	CV752212	single nucleotide variant	NM_001083116.3(PRF1):c.927C>T (p.Thr309=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002065861]	likely benign	10	70598794	70598794	Human	1	name
15112688	CV767881	single nucleotide variant	NM_001083116.3(PRF1):c.804C>A (p.Ile268=)	not provided [RCV000938986]	likely benign	10	70598917	70598917	Human		name
15142154	CV767882	single nucleotide variant	NM_001083116.3(PRF1):c.624C>T (p.Thr208=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000944027]	likely benign	10	70599097	70599097	Human	1	name
15142807	CV767883	single nucleotide variant	NM_001083116.3(PRF1):c.402C>T (p.Asp134=)	Autoinflammatory syndrome [RCV002261240]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000944138]	likely benign\|uncertain significance	10	70600501	70600501	Human	2	name
15171681	CV767884	single nucleotide variant	NM_001083116.3(PRF1):c.393C>T (p.Val131=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000927953]	likely benign	10	70600510	70600510	Human	1	name
15121174	CV783669	single nucleotide variant	NM_001083116.3(PRF1):c.885C>T (p.Thr295=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000979420]	likely benign	10	70598836	70598836	Human	1	name
15136263	CV783670	single nucleotide variant	NM_001083116.3(PRF1):c.552A>T (p.Val184=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001471166]	likely benign	10	70599169	70599169	Human	1	name
26898277	CV837177	single nucleotide variant	NM_001083116.3(PRF1):c.74C>G (p.Thr25Arg)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001036397]\|Inborn genetic diseases [RCV005262174]	uncertain significance	10	70600829	70600829	Human	2	name
26902866	CV837178	single nucleotide variant	NM_001083116.3(PRF1):c.46C>A (p.Pro16Thr)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001066551]	uncertain significance	10	70600857	70600857	Human	1	name
38473226	CV925909	single nucleotide variant	NM_001083116.3(PRF1):c.82C>G (p.Arg28Gly)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001220242]	uncertain significance	10	70600821	70600821	Human	1	name
38472986	CV935146	single nucleotide variant	NM_001083116.3(PRF1):c.47C>T (p.Pro16Leu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001205104]	uncertain significance	10	70600856	70600856	Human	1	name
42722967	CV985272	single nucleotide variant	NM_001083116.3(PRF1):c.97C>T (p.Arg33Cys)	Aplastic anemia [RCV001292965]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001371049]	uncertain significance	10	70600806	70600806	Human	3	name
126754083	CV993969	single nucleotide variant	NM_001083116.3(PRF1):c.64C>T (p.Pro22Ser)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001307545]	uncertain significance	10	70600839	70600839	Human	1	name
126914857	CV1000036	single nucleotide variant	NM_001083116.3(PRF1):c.147C>A (p.Asp49Glu)	Aplastic anemia [RCV005040164]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001370616]\|not specified [RCV004690071]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	10	70600756	70600756	Human	3	name
126741694	CV1009143	single nucleotide variant	NM_001083116.3(PRF1):c.221C>T (p.Thr74Ile)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001325378]	uncertain significance	10	70600682	70600682	Human	1	name
126746248	CV1009144	single nucleotide variant	NM_001083116.3(PRF1):c.217T>C (p.Cys73Arg)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001325986]\|not provided [RCV003166911]	likely pathogenic\|uncertain significance	10	70600686	70600686	Human	1	name
126771555	CV1029706	single nucleotide variant	NM_001083116.3(PRF1):c.211G>A (p.Gly71Ser)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001345113]\|PRF1-related disorder [RCV003426053]	uncertain significance	10	70600692	70600692	Human	1	name , trait , alternate_id
126915859	CV1046710	single nucleotide variant	NM_001083116.3(PRF1):c.205C>T (p.Pro69Ser)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001371164]	uncertain significance	10	70600698	70600698	Human	1	name
127230665	CV1077319	single nucleotide variant	NM_001083116.3(PRF1):c.1434G>A (p.Leu478=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001394800]	likely benign	10	70598287	70598287	Human	1	name
127282050	CV1077320	single nucleotide variant	NM_001083116.3(PRF1):c.1377C>T (p.Pro459=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001410862]	likely benign	10	70598344	70598344	Human	1	name
127263178	CV1098974	single nucleotide variant	NM_001083116.3(PRF1):c.1650G>C (p.Arg550=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001439224]	likely benign	10	70598071	70598071	Human	1	name
127270207	CV1098975	single nucleotide variant	NM_001083116.3(PRF1):c.1249C>T (p.Leu417=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001430535]	likely benign	10	70598472	70598472	Human	1	name
127330188	CV1120547	single nucleotide variant	NM_001083116.3(PRF1):c.1047G>T (p.Leu349=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001470730]	likely benign	10	70598674	70598674	Human	1	name
127324644	CV1141375	single nucleotide variant	NM_001083116.3(PRF1):c.1161G>A (p.Lys387=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001485524]	likely benign	10	70598560	70598560	Human	1	name
127328240	CV1141376	single nucleotide variant	NM_001083116.3(PRF1):c.1027C>T (p.Leu343=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001506957]	likely benign	10	70598694	70598694	Human	1	name
151349950	CV1325495	deletion	NM_001083116.3(PRF1):c.963del (p.Glu323fs)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001814781]	pathogenic\|likely pathogenic	10	70598758	70598758	Human	1	name
151778043	CV1342787	single nucleotide variant	NM_001083116.3(PRF1):c.142G>A (p.Val48Met)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001988872]	uncertain significance	10	70600761	70600761	Human	1	name
151792037	CV1354168	single nucleotide variant	NM_001083116.3(PRF1):c.286C>T (p.Arg96Trp)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001876601]\|Inborn genetic diseases [RCV003346716]	uncertain significance	10	70600617	70600617	Human	2	name
151798662	CV1356836	single nucleotide variant	NM_001083116.3(PRF1):c.259C>T (p.Arg87Cys)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001990746]\|Inborn genetic diseases [RCV002571208]	uncertain significance	10	70600644	70600644	Human	2	name
151858547	CV1377644	single nucleotide variant	NM_001083116.3(PRF1):c.164G>A (p.Arg55His)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001938251]\|Inborn genetic diseases [RCV003247158]	uncertain significance	10	70600739	70600739	Human	2	name
151743946	CV1398226	single nucleotide variant	NM_001083116.3(PRF1):c.170G>T (p.Gly57Val)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002042520]	uncertain significance	10	70600733	70600733	Human	1	name
151857014	CV1410403	duplication	NM_001083116.3(PRF1):c.563dup (p.Leu189fs)	Aplastic anemia [RCV003471102]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001996660]	pathogenic\|likely pathogenic	10	70599157	70599158	Human	3	name
151886409	CV1435684	single nucleotide variant	NM_001083116.3(PRF1):c.208G>A (p.Asp70Asn)	Aplastic anemia [RCV005397173]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001962753]	uncertain significance	10	70600695	70600695	Human	3	name
151828720	CV1462167	single nucleotide variant	NM_001083116.3(PRF1):c.167C>G (p.Ser56Trp)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001993496]	uncertain significance	10	70600736	70600736	Human	1	name
151746375	CV1462200	single nucleotide variant	NM_001083116.3(PRF1):c.1629G>A (p.Leu543=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001968685]	likely benign\|uncertain significance	10	70598092	70598092	Human	1	name
151850105	CV1465672	single nucleotide variant	NM_001083116.3(PRF1):c.112G>C (p.Val38Leu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002033054]	uncertain significance	10	70600791	70600791	Human	1	name
151715601	CV1472632	single nucleotide variant	NM_001083116.3(PRF1):c.278C>A (p.Thr93Asn)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002039282]	uncertain significance	10	70600625	70600625	Human	1	name
152083550	CV1525341	single nucleotide variant	NM_001083116.3(PRF1):c.1629G>C (p.Leu543=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002131136]	likely benign	10	70598092	70598092	Human	1	name
152092345	CV1567767	single nucleotide variant	NM_001083116.3(PRF1):c.1107G>A (p.Thr369=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002212898]	likely benign	10	70598614	70598614	Human	1	name
152120846	CV1576264	single nucleotide variant	NM_001083116.3(PRF1):c.1356C>T (p.Thr452=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002198031]	likely benign	10	70598365	70598365	Human	1	name
152111270	CV1582315	single nucleotide variant	NM_001083116.3(PRF1):c.1347G>A (p.Arg449=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002080283]	likely benign	10	70598374	70598374	Human	1	name
152142433	CV1586677	single nucleotide variant	NM_001083116.3(PRF1):c.1113G>A (p.Arg371=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002178234]	likely benign	10	70598608	70598608	Human	1	name
152068507	CV1592510	single nucleotide variant	NM_001083116.3(PRF1):c.1155G>A (p.Arg385=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002168987]	likely benign	10	70598566	70598566	Human	1	name
152119958	CV1612176	single nucleotide variant	NM_001083116.3(PRF1):c.1023C>T (p.Tyr341=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002135582]	likely benign	10	70598698	70598698	Human	1	name
152128621	CV1637332	single nucleotide variant	NM_001083116.3(PRF1):c.1626T>C (p.Leu542=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002217756]	likely benign	10	70598095	70598095	Human	1	name
152030026	CV1664946	single nucleotide variant	NM_001083116.3(PRF1):c.1038G>C (p.Leu346=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002105790]	likely benign	10	70598683	70598683	Human	1	name
153303994	CV1686561	single nucleotide variant	NM_001083116.3(PRF1):c.248G>A (p.Gly83Asp)	Autoinflammatory syndrome [RCV002261995]	uncertain significance	10	70600655	70600655	Human	1	name
153304002	CV1686567	deletion	NM_001083116.3(PRF1):c.523del (p.Glu175fs)	Autoinflammatory syndrome [RCV002262001]	likely pathogenic	10	70600380	70600380	Human	1	name
156307528	CV1877877	single nucleotide variant	NM_001083116.3(PRF1):c.148G>C (p.Val50Leu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003062266]	uncertain significance	10	70600755	70600755	Human	1	name
156145768	CV1895112	single nucleotide variant	NM_001083116.3(PRF1):c.1164C>T (p.Ser388=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003082374]\|PRF1-related disorder [RCV003953883]	likely benign	10	70598557	70598557	Human	1	name , trait , alternate_id
156047115	CV1914874	single nucleotide variant	NM_001083116.3(PRF1):c.287G>A (p.Arg96Gln)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002620476]	uncertain significance	10	70600616	70600616	Human	1	name
156356839	CV1917697	single nucleotide variant	NM_001083116.3(PRF1):c.1602C>T (p.Cys534=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002632397]	likely benign	10	70598119	70598119	Human	1	name
156069989	CV1928079	single nucleotide variant	NM_001083116.3(PRF1):c.1065G>A (p.Pro355=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002638570]	likely benign	10	70598656	70598656	Human	1	name
156449921	CV1938429	single nucleotide variant	NM_001083116.3(PRF1):c.277A>G (p.Thr93Ala)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003122052]	uncertain significance	10	70600626	70600626	Human	1	name
156153296	CV1961223	single nucleotide variant	NM_001083116.3(PRF1):c.1188G>A (p.Val396=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002572969]	likely benign	10	70598533	70598533	Human	1	name
156220971	CV1965326	single nucleotide variant	NM_001083116.3(PRF1):c.1470C>T (p.Asp490=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002596457]	likely benign	10	70598251	70598251	Human	1	name
156362558	CV2003306	single nucleotide variant	NM_001083116.3(PRF1):c.1629G>T (p.Leu543=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002676342]	likely benign	10	70598092	70598092	Human	1	name
156269568	CV2008141	single nucleotide variant	NM_001083116.3(PRF1):c.1335C>T (p.Gly445=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002714932]	likely benign\|uncertain significance	10	70598386	70598386	Human	1	name
155912522	CV2021758	single nucleotide variant	NM_001083116.3(PRF1):c.274C>T (p.Leu92Phe)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002726909]	uncertain significance	10	70600629	70600629	Human	1	name
155918281	CV2031959	single nucleotide variant	NM_001083116.3(PRF1):c.1260C>T (p.Thr420=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002727249]	likely benign	10	70598461	70598461	Human	1	name
156016516	CV2046807	single nucleotide variant	NM_001083116.3(PRF1):c.1353C>T (p.Ser451=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002756964]	likely benign	10	70598368	70598368	Human	1	name
156259627	CV2098943	single nucleotide variant	NM_001083116.3(PRF1):c.1392G>A (p.Arg464=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002895530]	likely benign	10	70598329	70598329	Human	1	name
156224570	CV2103648	single nucleotide variant	NM_001083116.3(PRF1):c.203G>A (p.Arg68Gln)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002918703]	uncertain significance	10	70600700	70600700	Human	1	name
156239546	CV2115854	single nucleotide variant	NM_001083116.3(PRF1):c.140G>A (p.Gly47Asp)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002919246]\|not specified [RCV005419515]	uncertain significance	10	70600763	70600763	Human	1	name
156141196	CV2167681	deletion	NM_001083116.3(PRF1):c.858del (p.His286fs)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003022526]	pathogenic	10	70598863	70598863	Human	1	name
156021989	CV2184616	single nucleotide variant	NM_001083116.3(PRF1):c.285G>A (p.Trp95Ter)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003035775]	pathogenic	10	70600618	70600618	Human	1	name
243056664	CV2418868	single nucleotide variant	NM_001083116.3(PRF1):c.116C>A (p.Pro39His)	Aplastic anemia [RCV004572865]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV005100941]\|Familial hemophagocytic lymphohistiocytosis [RCV003155835]	pathogenic\|likely pathogenic	10	70600787	70600787	Human	4	name
329846405	CV2524732	deletion	NM_001083116.3(PRF1):c.880del (p.Gln294fs)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003228213]	pathogenic	10	70598841	70598841	Human	1	name
401943529	CV2835202	duplication	NM_001083116.3(PRF1):c.581dup (p.Arg195fs)	Aplastic anemia [RCV003463369]	likely pathogenic	10	70599139	70599140	Human	2	name
401943541	CV2835210	single nucleotide variant	NM_001083116.3(PRF1):c.218G>A (p.Cys73Tyr)	Aplastic anemia [RCV003463373]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV005100210]	likely pathogenic	10	70600685	70600685	Human	3	name
405014710	CV2861640	single nucleotide variant	NM_001083116.3(PRF1):c.1128C>T (p.Asp376=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003515303]	likely benign	10	70598593	70598593	Human	1	name
405016086	CV2862803	single nucleotide variant	NM_001083116.3(PRF1):c.1011C>T (p.Gly337=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003515445]	likely benign	10	70598710	70598710	Human	1	name
405016597	CV2863407	single nucleotide variant	NM_001083116.3(PRF1):c.1332T>G (p.Gly444=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003515503]	likely benign	10	70598389	70598389	Human	1	name
405018441	CV2867893	single nucleotide variant	NM_001083116.3(PRF1):c.1194T>C (p.His398=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003515659]	likely benign	10	70598527	70598527	Human	1	name
405000725	CV2868900	single nucleotide variant	NM_001083116.3(PRF1):c.1323C>T (p.Leu441=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003513818]	likely benign	10	70598398	70598398	Human	1	name
405001669	CV2873083	single nucleotide variant	NM_001083116.3(PRF1):c.1212C>T (p.Thr404=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003513920]\|PRF1-related disorder [RCV003946673]	likely benign	10	70598509	70598509	Human	1	name , trait , alternate_id
8563839	CV28749	single nucleotide variant	NM_001083116.3(PRF1):c.190C>T (p.Gln64Ter)	Aplastic anemia [RCV003460476]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000014710]	pathogenic	10	70600713	70600713	Human	3	name
8563847	CV28757	single nucleotide variant	NM_001083116.3(PRF1):c.272C>T (p.Ala91Val)	Autoinflammatory syndrome [RCV002260967]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000547554]\|Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to [RCV000014719]\|PRF1-related disorder [RCV003398509]\|not provided [RCV000224458]\|not specified ... (more) [RCV000456018]	pathogenic\|risk factor\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	70600631	70600631	Human	5	name , trait , alternate_id
405000998	CV2875972	single nucleotide variant	NM_001083116.3(PRF1):c.1206C>T (p.Val402=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003513848]	likely benign	10	70598515	70598515	Human	1	name
405017407	CV2877654	single nucleotide variant	NM_001083116.3(PRF1):c.1398T>C (p.Asp466=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003515562]	likely benign	10	70598323	70598323	Human	1	name
405002439	CV2884233	single nucleotide variant	NM_001083116.3(PRF1):c.1512T>C (p.Gly504=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003513995]	likely benign	10	70598209	70598209	Human	1	name
405028742	CV2900511	single nucleotide variant	NM_001083116.3(PRF1):c.254T>C (p.Leu85Pro)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003516588]	uncertain significance	10	70600649	70600649	Human	1	name
405025400	CV2901439	single nucleotide variant	NM_001083116.3(PRF1):c.208G>T (p.Asp70Tyr)	Aplastic anemia [RCV004574101]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV003516321]	pathogenic\|likely pathogenic	10	70600695	70600695	Human	3	name
405025408	CV2901440	single nucleotide variant	NM_001083116.3(PRF1):c.134G>A (p.Gly45Glu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003516322]	likely pathogenic	10	70600769	70600769	Human	1	name
405014913	CV2919493	single nucleotide variant	NM_001083116.3(PRF1):c.1134C>T (p.Ser378=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003515009]	likely benign	10	70598587	70598587	Human	1	name
405014839	CV2919763	single nucleotide variant	NM_001083116.3(PRF1):c.1158G>A (p.Gln386=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003515017]	likely benign	10	70598563	70598563	Human	1	name
405020470	CV2921943	single nucleotide variant	NM_001083116.3(PRF1):c.1053C>T (p.Asp351=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003515854]	likely benign	10	70598668	70598668	Human	1	name
402489982	CV2957615	single nucleotide variant	NM_001083116.3(PRF1):c.1389G>A (p.Val463=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627088]	likely benign	10	70598332	70598332	Human	1	name
402489995	CV2957635	single nucleotide variant	NM_001083116.3(PRF1):c.1230G>A (p.Arg410=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627089]	likely benign	10	70598491	70598491	Human	1	name
402497236	CV2966408	single nucleotide variant	NM_001083116.3(PRF1):c.1650G>T (p.Arg550=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627882]	likely benign	10	70598071	70598071	Human	1	name
402495538	CV2970645	single nucleotide variant	NM_001083116.3(PRF1):c.241C>T (p.Gln81Ter)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627726]	pathogenic	10	70600662	70600662	Human	1	name
402497568	CV2977625	single nucleotide variant	NM_001083116.3(PRF1):c.1266C>T (p.Ile422=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627943]	likely benign	10	70598455	70598455	Human	1	name
402500024	CV2980205	single nucleotide variant	NM_001083116.3(PRF1):c.1590A>C (p.Gly530=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628177]	likely benign	10	70598131	70598131	Human	1	name
402498767	CV2982571	single nucleotide variant	NM_001083116.3(PRF1):c.1078C>T (p.Leu360=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628045]	likely benign	10	70598643	70598643	Human	1	name
402499046	CV2982924	single nucleotide variant	NM_001083116.3(PRF1):c.1443G>A (p.Gln481=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628075]	likely benign	10	70598278	70598278	Human	1	name
402497853	CV2984989	single nucleotide variant	NM_001083116.3(PRF1):c.1560C>G (p.Arg520=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627973]	likely benign	10	70598161	70598161	Human	1	name
402497862	CV2984990	single nucleotide variant	NM_001083116.3(PRF1):c.1446C>G (p.Val482=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627974]	likely benign	10	70598275	70598275	Human	1	name
402501403	CV3002649	single nucleotide variant	NM_001083116.3(PRF1):c.1140G>T (p.Pro380=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628328]	likely benign	10	70598581	70598581	Human	1	name
402503469	CV3006834	single nucleotide variant	NM_001083116.3(PRF1):c.262C>A (p.Leu88Met)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628562]	uncertain significance	10	70600641	70600641	Human	1	name
402481548	CV3007478	single nucleotide variant	NM_001083116.3(PRF1):c.1428G>T (p.Gly476=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003626118]	likely benign	10	70598293	70598293	Human	1	name
402502536	CV3011868	single nucleotide variant	NM_001083116.3(PRF1):c.1440G>A (p.Leu480=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628462]	likely benign	10	70598281	70598281	Human	1	name
402503653	CV3013516	single nucleotide variant	NM_001083116.3(PRF1):c.1410G>C (p.Val470=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628582]	likely benign	10	70598311	70598311	Human	1	name
402502728	CV3014971	single nucleotide variant	NM_001083116.3(PRF1):c.1092G>A (p.Leu364=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628484]	likely benign	10	70598629	70598629	Human	1	name
402503368	CV3016428	deletion	NM_001083116.3(PRF1):c.327del (p.Val111fs)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628551]	pathogenic	10	70600576	70600576	Human	1	name
402492697	CV3065811	single nucleotide variant	NM_001083116.3(PRF1):c.1002C>G (p.Gly334=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627372]	likely benign	10	70598719	70598719	Human	1	name
402494041	CV3073812	single nucleotide variant	NM_001083116.3(PRF1):c.1659C>T (p.Ala553=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627481]	likely benign	10	70598062	70598062	Human	1	name
405029152	CV3129883	single nucleotide variant	NM_001083116.3(PRF1):c.1059G>A (p.Gln353=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003830481]	likely benign	10	70598662	70598662	Human	1	name
405106290	CV3136097	single nucleotide variant	NM_001083116.3(PRF1):c.1029G>A (p.Leu343=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003835443]	likely benign	10	70598692	70598692	Human	1	name
405170213	CV3149923	single nucleotide variant	NM_001083116.3(PRF1):c.1290C>T (p.Asp430=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003841394]	likely benign	10	70598431	70598431	Human	1	name
405176417	CV3150641	single nucleotide variant	NM_001083116.3(PRF1):c.1146A>C (p.Pro382=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003841915]	likely benign	10	70598575	70598575	Human	1	name
405147601	CV3152021	single nucleotide variant	NM_001083116.3(PRF1):c.1611T>C (p.Tyr537=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003855992]	likely benign	10	70598110	70598110	Human	1	name
405160945	CV3152964	single nucleotide variant	NM_001083116.3(PRF1):c.1566T>C (p.His522=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003840699]	likely benign	10	70598155	70598155	Human	1	name
405217079	CV3153733	single nucleotide variant	NM_001083116.3(PRF1):c.1413C>G (p.Leu471=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003846616]	likely benign	10	70598308	70598308	Human	1	name
405128512	CV3163250	single nucleotide variant	NM_001083116.3(PRF1):c.1390C>A (p.Arg464=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003854431]	likely benign	10	70598331	70598331	Human	1	name
404996357	CV3172876	single nucleotide variant	NM_001083116.3(PRF1):c.1287G>A (p.Gly429=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003882158]	likely benign	10	70598434	70598434	Human	1	name
402470710	CV3175244	single nucleotide variant	NM_001083116.3(PRF1):c.1101C>T (p.Tyr367=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003874176]	likely benign	10	70598620	70598620	Human	1	name
404991166	CV3176283	single nucleotide variant	NM_001083116.3(PRF1):c.1473T>C (p.Asp491=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003881608]	likely benign	10	70598248	70598248	Human	1	name
405253575	CV3178556	single nucleotide variant	NM_001083116.3(PRF1):c.1098G>A (p.Gln366=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003871157]	likely benign	10	70598623	70598623	Human	1	name
402488163	CV3181933	single nucleotide variant	NM_001083116.3(PRF1):c.1605G>C (p.Leu535=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003876602]	likely benign	10	70598116	70598116	Human	1	name
407573009	CV3498753	single nucleotide variant	NM_001083116.3(PRF1):c.200T>C (p.Leu67Pro)	not specified [RCV004699723]	uncertain significance	10	70600703	70600703	Human		name
596941776	CV3543857	single nucleotide variant	NM_001083116.3(PRF1):c.139G>T (p.Gly47Cys)	not specified [RCV004799846]	uncertain significance	10	70600764	70600764	Human		name
596942984	CV3544268	single nucleotide variant	NM_001083116.3(PRF1):c.266C>G (p.Pro89Arg)	not specified [RCV004800262]	uncertain significance	10	70600637	70600637	Human		name
597670679	CV3726479	single nucleotide variant	NM_001083116.3(PRF1):c.140G>T (p.Gly47Val)	Aplastic anemia [RCV005043907]	likely pathogenic	10	70600763	70600763	Human	2	name
597670739	CV3726487	single nucleotide variant	NM_001083116.3(PRF1):c.133G>C (p.Gly45Arg)	Aplastic anemia [RCV005043914]	likely pathogenic	10	70600770	70600770	Human	2	name
597944261	CV3782791	single nucleotide variant	NM_001083116.3(PRF1):c.1563T>C (p.Tyr521=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV005134331]	likely benign	10	70598158	70598158	Human	1	name
597955585	CV3787147	single nucleotide variant	NM_001083116.3(PRF1):c.1083G>A (p.Arg361=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV005122032]	likely benign	10	70598638	70598638	Human	1	name
597965353	CV3797109	single nucleotide variant	NM_001083116.3(PRF1):c.1356C>A (p.Thr452=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV005140069]	likely benign	10	70598365	70598365	Human	1	name
597937693	CV3807899	single nucleotide variant	NM_001083116.3(PRF1):c.1488C>A (p.Thr496=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV005158278]	likely benign	10	70598233	70598233	Human	1	name
597920735	CV3807974	single nucleotide variant	NM_001083116.3(PRF1):c.1329T>C (p.Phe443=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV005155682]	likely benign	10	70598392	70598392	Human	1	name
597958573	CV3814835	single nucleotide variant	NM_001083116.3(PRF1):c.1581C>A (p.Pro527=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV005162960]	likely benign	10	70598140	70598140	Human	1	name
597948580	CV3818352	single nucleotide variant	NM_001083116.3(PRF1):c.1662G>A (p.Val554=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV005160613]	likely benign	10	70598059	70598059	Human	1	name
597848563	CV3824125	single nucleotide variant	NM_001083116.3(PRF1):c.1614C>A (p.Val538=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV005173364]	likely benign	10	70598107	70598107	Human	1	name
598122710	CV3884642	single nucleotide variant	NM_001083116.3(PRF1):c.218G>C (p.Cys73Ser)	Familial hemophagocytic lymphohistiocytosis [RCV005237334]	likely pathogenic	10	70600685	70600685	Human	1	name
13495412	CV460226	single nucleotide variant	NM_001083116.3(PRF1):c.1560C>T (p.Arg520=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000559613]\|Lymphoma, non-Hodgkin, familial [RCV003316708]\|PRF1-related disorder [RCV003960339]	benign\|likely benign	10	70598161	70598161	Human	2	name , trait , alternate_id
13492202	CV460232	single nucleotide variant	NM_001083116.3(PRF1):c.133G>A (p.Gly45Arg)	Aplastic anemia [RCV003476291]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000534759]\|PRF1-related disorder [RCV004754465]\|not provided [RCV004696940]	pathogenic\|uncertain significance	10	70600770	70600770	Human	3	name , trait , alternate_id
13608828	CV525536	single nucleotide variant	NM_001083116.3(PRF1):c.112G>A (p.Val38Met)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000644564]\|not specified [RCV002282290]	uncertain significance	10	70600791	70600791	Human	1	name
13608835	CV525775	single nucleotide variant	NM_001083116.3(PRF1):c.1239C>T (p.Gly413=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000644568]	likely benign	10	70598482	70598482	Human	1	name
13820155	CV563922	single nucleotide variant	NM_001083116.3(PRF1):c.181G>A (p.Val61Met)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000694764]	uncertain significance	10	70600722	70600722	Human	1	name
13812755	CV569765	single nucleotide variant	NM_001083116.3(PRF1):c.247G>A (p.Gly83Ser)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000703904]	uncertain significance	10	70600656	70600656	Human	1	name
14730764	CV639119	single nucleotide variant	NM_001083116.3(PRF1):c.227G>A (p.Cys76Tyr)	Aplastic anemia [RCV003473498]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000817541]\|PRF1-related disorder [RCV003413647]\|not specified [RCV001816902]	likely pathogenic\|uncertain significance	10	70600676	70600676	Human	3	name , trait , alternate_id
14743303	CV639120	single nucleotide variant	NM_001083116.3(PRF1):c.163C>T (p.Arg55Cys)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000823367]	likely pathogenic\|uncertain significance	10	70600740	70600740	Human	1	name
14705510	CV654600	single nucleotide variant	NM_001083116.3(PRF1):c.256C>T (p.Gln86Ter)	Familial hemophagocytic lymphohistiocytosis [RCV000826212]	likely pathogenic	10	70600647	70600647	Human	1	name
15146485	CV712450	single nucleotide variant	NM_001083116.3(PRF1):c.1041C>T (p.His347=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000967169]\|PRF1-related disorder [RCV003943155]	benign\|likely benign	10	70598680	70598680	Human	1	name , trait , alternate_id
15189405	CV724044	single nucleotide variant	NM_001083116.3(PRF1):c.1620A>G (p.Gln540=)	Autoinflammatory syndrome [RCV002264049]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000887811]\|not provided [RCV001358428]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	70598101	70598101	Human	2	name
15141328	CV737568	single nucleotide variant	NM_001083116.3(PRF1):c.1428G>A (p.Gly476=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000899476]	benign	10	70598293	70598293	Human	1	name
15130765	CV737569	single nucleotide variant	NM_001083116.3(PRF1):c.1140G>A (p.Pro380=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000897657]\|PRF1-related disorder [RCV003940802]\|not specified [RCV003151196]	likely benign\|conflicting interpretations of pathogenicity	10	70598581	70598581	Human	1	name , trait , alternate_id
15121506	CV737570	single nucleotide variant	NM_001083116.3(PRF1):c.1036C>T (p.Leu346=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000896075]	likely benign	10	70598685	70598685	Human	1	name
15117864	CV767880	single nucleotide variant	NM_001083116.3(PRF1):c.1317G>A (p.Val439=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001443600]	likely benign	10	70598404	70598404	Human	1	name
21071924	CV790975	single nucleotide variant	NM_001083116.3(PRF1):c.160C>T (p.Arg54Cys)	Aplastic anemia [RCV003473536]\|Aplastic anemia [RCV005047164]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000988376]\|Familial hemophagocytic lymphohistiocytosis [RCV005236502]	pathogenic\|likely pathogenic	10	70600743	70600743	Human	4	name
21071925	CV790976	single nucleotide variant	NM_001083116.3(PRF1):c.148G>A (p.Val50Met)	Aplastic anemia [RCV001330251]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000988377]\|Familial hemophagocytic lymphohistiocytosis [RCV001175585]\|not provided [RCV001568143]	pathogenic\|likely pathogenic	10	70600755	70600755	Human	4	name
26900618	CV837174	deletion	NM_001083116.3(PRF1):c.487del (p.His163fs)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001052399]	pathogenic\|likely pathogenic	10	70600416	70600416	Human	1	name
28901049	CV866091	single nucleotide variant	NM_001083116.3(PRF1):c.1350G>A (p.Thr450=)	Autoinflammatory syndrome [RCV002261276]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001104087]	conflicting interpretations of pathogenicity\|uncertain significance	10	70598371	70598371	Human	2	name
28901052	CV866092	single nucleotide variant	NM_001083116.3(PRF1):c.1305G>A (p.Thr435=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001104088]	conflicting interpretations of pathogenicity\|uncertain significance	10	70598416	70598416	Human	1	name
28897327	CV866097	single nucleotide variant	NM_001083116.3(PRF1):c.194G>A (p.Arg65Lys)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001102561]	uncertain significance	10	70600709	70600709	Human	1	name
38473148	CV925908	single nucleotide variant	NM_001083116.3(PRF1):c.161G>A (p.Arg54His)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001216687]\|PRF1-related disorder [RCV003414010]	uncertain significance	10	70600742	70600742	Human	1	name , trait , alternate_id
38473420	CV947026	single nucleotide variant	NM_001083116.3(PRF1):c.260G>A (p.Arg87His)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001227253]\|not provided [RCV001528719]	uncertain significance	10	70600643	70600643	Human	1	name
38473636	CV956147	single nucleotide variant	NM_001083116.3(PRF1):c.1203G>A (p.Ala401=)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001241988]\|PRF1-related disorder [RCV004754712]	likely benign\|uncertain significance	10	70598518	70598518	Human	1	name , trait , alternate_id
38465890	CV961861	deletion	NM_001083116.3(PRF1):c.921del (p.His308fs)	Aplastic anemia [RCV004570639]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001250207]\|not provided [RCV005225327]	pathogenic\|likely pathogenic	10	70598800	70598800	Human	3	name
38597508	CV963276	duplication	NM_001083116.3(PRF1):c.985dup (p.Val329fs)	Familial hemophagocytic lymphohistiocytosis [RCV001251302]	likely pathogenic	10	70598735	70598736	Human	1	name
150454005	CV1000035	single nucleotide variant	NM_001083116.3(PRF1):c.769T>G (p.Cys257Gly)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001594429]	likely pathogenic	10	70598952	70598952	Human	1	name
126766239	CV1009141	duplication	NM_001083116.3(PRF1):c.1628dup (p.Glu545fs)	Aplastic anemia [RCV003473859]\|Aplastic anemia [RCV005040177]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001320363]\|Familial hemophagocytic lymphohistiocytosis [RCV002265983]	likely pathogenic\|uncertain significance	10	70598092	70598093	Human	4	name
126769425	CV1009142	single nucleotide variant	NM_001083116.3(PRF1):c.895C>T (p.Arg299Cys)	Aplastic anemia [RCV003462895]\|Aplastic anemia [RCV005050331]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001321952]\|Familial hemophagocytic lymphohistiocytosis [RCV004699307]	pathogenic\|likely pathogenic\|uncertain significance	10	70598826	70598826	Human	4	name
126773156	CV1029703	single nucleotide variant	NM_001083116.3(PRF1):c.605A>T (p.His202Leu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001346025]	uncertain significance	10	70599116	70599116	Human	1	name
126761539	CV1029704	single nucleotide variant	NM_001083116.3(PRF1):c.545A>G (p.His182Arg)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001340720]\|Inborn genetic diseases [RCV005262412]	likely benign\|uncertain significance	10	70599176	70599176	Human	2	name
126752362	CV1029705	single nucleotide variant	NM_001083116.3(PRF1):c.403G>T (p.Val135Leu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001352601]	uncertain significance	10	70600500	70600500	Human	1	name
126923934	CV1046708	single nucleotide variant	NM_001083116.3(PRF1):c.859A>C (p.Lys287Gln)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001366429]	uncertain significance	10	70598862	70598862	Human	1	name
151349955	CV1325496	single nucleotide variant	NM_001083116.3(PRF1):c.706C>T (p.Leu236Phe)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002541498]\|not provided [RCV001814782]	uncertain significance	10	70599015	70599015	Human	1	name
151728582	CV1335215	single nucleotide variant	NM_001083116.3(PRF1):c.559C>T (p.Pro187Ser)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002545239]\|Inborn genetic diseases [RCV004041056]\|not specified [RCV001844533]	uncertain significance	10	70599162	70599162	Human	2	name
151753971	CV1355749	single nucleotide variant	NM_001083116.3(PRF1):c.355C>T (p.Arg119Trp)	Aplastic anemia [RCV005397246]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001986569]	uncertain significance	10	70600548	70600548	Human	3	name
151722859	CV1357989	single nucleotide variant	NM_001083116.3(PRF1):c.367C>T (p.Arg123Cys)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001945159]\|Inborn genetic diseases [RCV002556373]	uncertain significance	10	70600536	70600536	Human	2	name
151738601	CV1358677	single nucleotide variant	NM_001083116.3(PRF1):c.616G>A (p.Ala206Thr)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001967910]\|Inborn genetic diseases [RCV002563397]	likely benign\|uncertain significance	10	70599105	70599105	Human	2	name
151876412	CV1372798	single nucleotide variant	NM_001083116.3(PRF1):c.757G>A (p.Glu253Lys)	Aplastic anemia [RCV003464374]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV002019592]\|not provided [RCV004719221]	pathogenic\|likely pathogenic\|uncertain significance	10	70598964	70598964	Human	3	name
151869802	CV1375200	single nucleotide variant	NM_001083116.3(PRF1):c.718C>T (p.Arg240Cys)	Aplastic anemia [RCV002492054]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001960270]	uncertain significance	10	70599003	70599003	Human	3	name
151819623	CV1386877	single nucleotide variant	NM_001083116.3(PRF1):c.911T>C (p.Val304Ala)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001954630]	uncertain significance	10	70598810	70598810	Human	1	name
151877023	CV1390360	single nucleotide variant	NM_001083116.3(PRF1):c.719G>A (p.Arg240His)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001940522]\|not specified [RCV003235620]	uncertain significance	10	70599002	70599002	Human	1	name
151820012	CV1422457	single nucleotide variant	NM_001083116.3(PRF1):c.501C>G (p.Tyr167Ter)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001900790]	pathogenic	10	70600402	70600402	Human	1	name
151749060	CV1442565	single nucleotide variant	NM_001083116.3(PRF1):c.341C>T (p.Thr114Ile)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002043085]	uncertain significance	10	70600562	70600562	Human	1	name
151834058	CV1446748	single nucleotide variant	NM_001083116.3(PRF1):c.622A>T (p.Thr208Ser)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002031096]	uncertain significance	10	70599099	70599099	Human	1	name
151751829	CV1457369	single nucleotide variant	NM_001083116.3(PRF1):c.343G>A (p.Glu115Lys)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001913059]\|Inborn genetic diseases [RCV004656720]	uncertain significance	10	70600560	70600560	Human	2	name
151798425	CV1470855	single nucleotide variant	NM_001083116.3(PRF1):c.394G>T (p.Gly132Trp)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001898832]	uncertain significance	10	70600509	70600509	Human	1	name
151795410	CV1470923	single nucleotide variant	NM_001083116.3(PRF1):c.853A>C (p.Lys285Gln)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001952433]	uncertain significance	10	70598868	70598868	Human	1	name
151882342	CV1484567	single nucleotide variant	NM_001083116.3(PRF1):c.824A>C (p.Glu275Ala)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001941272]	uncertain significance	10	70598897	70598897	Human	1	name
151749571	CV1487592	single nucleotide variant	NM_001083116.3(PRF1):c.806A>C (p.His269Pro)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001948000]\|not specified [RCV004699555]	uncertain significance	10	70598915	70598915	Human	1	name
151834278	CV1493482	single nucleotide variant	NM_001083116.3(PRF1):c.902C>A (p.Ser301Ter)	Aplastic anemia [RCV005042500]\|Autoinflammatory syndrome [RCV002261417]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001935374]	pathogenic\|likely pathogenic\|uncertain significance	10	70598819	70598819	Human	4	name
151834295	CV1493486	single nucleotide variant	NM_001083116.3(PRF1):c.614A>G (p.Asn205Ser)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001935376]\|not specified [RCV003323947]	uncertain significance	10	70599107	70599107	Human	1	name
153303992	CV1686560	deletion	NM_001083116.3(PRF1):c.1595del (p.Gly532fs)	Autoinflammatory syndrome [RCV002261994]	likely pathogenic	10	70598126	70598126	Human	1	name
153303995	CV1686562	single nucleotide variant	NM_001083116.3(PRF1):c.374T>C (p.Ile125Thr)	Aplastic anemia [RCV005397350]\|Autoinflammatory syndrome [RCV002261996]	uncertain significance	10	70600529	70600529	Human	3	name
153303998	CV1686564	single nucleotide variant	NM_001083116.3(PRF1):c.391G>T (p.Val131Phe)	Autoinflammatory syndrome [RCV002261998]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV003774809]	uncertain significance	10	70600512	70600512	Human	2	name
153304000	CV1686565	single nucleotide variant	NM_001083116.3(PRF1):c.481A>G (p.Lys161Glu)	Autoinflammatory syndrome [RCV002261999]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV003095920]	uncertain significance	10	70600422	70600422	Human	2	name
153304001	CV1686566	single nucleotide variant	NM_001083116.3(PRF1):c.503G>A (p.Ser168Asn)	Aplastic anemia [RCV003475317]\|Autoinflammatory syndrome [RCV002262000]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV003101467]\|not provided [RCV003134408]	pathogenic\|likely pathogenic\|uncertain significance	10	70600400	70600400	Human	4	name
153304004	CV1686568	single nucleotide variant	NM_001083116.3(PRF1):c.793A>C (p.Asn265His)	Autoinflammatory syndrome [RCV002262002]	uncertain significance	10	70598928	70598928	Human	1	name
153304005	CV1686569	single nucleotide variant	NM_001083116.3(PRF1):c.808G>A (p.Gly270Ser)	Autoinflammatory syndrome [RCV002262003]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV003095921]	uncertain significance	10	70598913	70598913	Human	2	name
153304007	CV1686570	single nucleotide variant	NM_001083116.3(PRF1):c.865A>G (p.Thr289Ala)	Autoinflammatory syndrome [RCV002262004]	uncertain significance	10	70598856	70598856	Human	1	name
155267316	CV1696616	single nucleotide variant	NM_001083116.3(PRF1):c.610T>C (p.Phe204Leu)	not provided [RCV002281474]	uncertain significance	10	70599111	70599111	Human		name
156307506	CV1877875	single nucleotide variant	NM_001083116.3(PRF1):c.949G>A (p.Gly317Arg)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003062264]\|Familial hemophagocytic lymphohistiocytosis [RCV005059131]	pathogenic\|likely pathogenic	10	70598772	70598772	Human	2	name
156307517	CV1877876	single nucleotide variant	NM_001083116.3(PRF1):c.657C>A (p.Tyr219Ter)	Aplastic anemia [RCV003475491]\|Aplastic anemia [RCV005045194]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV003062265]	pathogenic	10	70599064	70599064	Human	3	name
155951727	CV1880193	single nucleotide variant	NM_001083116.3(PRF1):c.722C>A (p.Thr241Asn)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003074190]\|Inborn genetic diseases [RCV003074189]	uncertain significance	10	70598999	70598999	Human	2	name
156263826	CV1902872	single nucleotide variant	NM_001083116.3(PRF1):c.890G>A (p.Arg297Gln)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003086538]\|PRF1-related disorder [RCV003906499]	uncertain significance	10	70598831	70598831	Human	1	name , trait , alternate_id
155942629	CV1910454	single nucleotide variant	NM_001083116.3(PRF1):c.518C>A (p.Thr173Lys)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002615738]	uncertain significance	10	70600385	70600385	Human	1	name
156436807	CV1940405	single nucleotide variant	NM_001083116.3(PRF1):c.889C>T (p.Arg297Trp)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003106331]	uncertain significance	10	70598832	70598832	Human	1	name
155992151	CV1940962	single nucleotide variant	NM_001083116.3(PRF1):c.937G>A (p.Asp313Asn)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003111700]\|Inborn genetic diseases [RCV002882527]\|not provided [RCV003151919]	uncertain significance	10	70598784	70598784	Human	2	name
156441670	CV1941001	single nucleotide variant	NM_001083116.3(PRF1):c.560C>T (p.Pro187Leu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003111998]	uncertain significance	10	70599161	70599161	Human	1	name
156440583	CV1943642	single nucleotide variant	NM_001083116.3(PRF1):c.827C>T (p.Ala276Val)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003110619]	uncertain significance	10	70598894	70598894	Human	1	name
156206773	CV2021506	single nucleotide variant	NM_001083116.3(PRF1):c.640A>G (p.Arg214Gly)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002711605]\|Inborn genetic diseases [RCV003167677]	uncertain significance	10	70599081	70599081	Human	2	name
156200737	CV2034713	single nucleotide variant	NM_001083116.3(PRF1):c.530G>A (p.Arg177His)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002766228]	uncertain significance	10	70600373	70600373	Human	1	name
156012321	CV2035658	single nucleotide variant	NM_001083116.3(PRF1):c.568C>T (p.His190Tyr)	Aplastic anemia [RCV003465826]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV002795165]	uncertain significance	10	70599153	70599153	Human	3	name
156124047	CV2040009	single nucleotide variant	NM_001083116.3(PRF1):c.409C>T (p.Pro137Ser)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002785903]	uncertain significance	10	70600494	70600494	Human	1	name
156142825	CV2044566	single nucleotide variant	NM_001083116.3(PRF1):c.571C>G (p.Pro191Ala)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002801015]\|Inborn genetic diseases [RCV005264274]	uncertain significance	10	70599150	70599150	Human	2	name
155962491	CV2089165	deletion	NM_001083116.3(PRF1):c.1126del (p.Asp376fs)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002881090]	pathogenic	10	70598595	70598595	Human	1	name
155920350	CV2102368	single nucleotide variant	NM_001083116.3(PRF1):c.402C>A (p.Asp134Glu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002903327]	uncertain significance	10	70600501	70600501	Human	1	name
156243298	CV2105453	single nucleotide variant	NM_001083116.3(PRF1):c.449C>A (p.Ser150Ter)	Aplastic anemia [RCV003475454]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV002933279]\|Familial hemophagocytic lymphohistiocytosis [RCV003331403]	pathogenic	10	70600454	70600454	Human	4	name
156234129	CV2118331	single nucleotide variant	NM_001083116.3(PRF1):c.620C>T (p.Ser207Phe)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002958626]	uncertain significance	10	70599101	70599101	Human	1	name
155950548	CV2123471	single nucleotide variant	NM_001083116.3(PRF1):c.938A>T (p.Asp313Val)	Aplastic anemia [RCV003465878]\|Aplastic anemia [RCV005045123]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV002971843]\|not provided [RCV004593110]	pathogenic\|likely pathogenic\|uncertain significance	10	70598783	70598783	Human	3	name
156118206	CV2155268	duplication	NM_001083116.3(PRF1):c.1428dup (p.Pro477fs)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003002871]	pathogenic	10	70598292	70598293	Human	1	name
156356269	CV2165939	single nucleotide variant	NM_001083116.3(PRF1):c.677C>A (p.Ala226Asp)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003031255]	uncertain significance	10	70599044	70599044	Human	1	name
156092482	CV2256674	single nucleotide variant	NM_001083116.3(PRF1):c.602C>T (p.Pro201Leu)	Inborn genetic diseases [RCV002798598]	uncertain significance	10	70599119	70599119	Human	1	name
243059639	CV2413556	single nucleotide variant	NM_001083116.3(PRF1):c.452A>T (p.His151Leu)	not provided [RCV003135135]	uncertain significance	10	70600451	70600451	Human		name
243059640	CV2413557	single nucleotide variant	NM_001083116.3(PRF1):c.352G>T (p.Ala118Ser)	not provided [RCV003135136]	uncertain significance	10	70600551	70600551	Human		name
329371860	CV2454925	single nucleotide variant	NM_001083116.3(PRF1):c.355C>G (p.Arg119Gly)	Inborn genetic diseases [RCV003209903]	uncertain significance	10	70600548	70600548	Human	1	name
11580958	CV264466	single nucleotide variant	NM_001083116.3(PRF1):c.666C>A (p.His222Gln)	Aplastic anemia [RCV002500969]\|Aplastic anemia [RCV003475886]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000554706]\|Familial hemophagocytic lymphohistiocytosis [RCV001844108]\|not provided [RCV000349901]	pathogenic\|likely pathogenic	10	70599055	70599055	Human	4	name
401721328	CV2737525	single nucleotide variant	NM_001083116.3(PRF1):c.806A>G (p.His269Arg)	Lymphoma, non-Hodgkin, familial [RCV003314464]	uncertain significance	10	70598915	70598915	Human	1	name
401937788	CV2797055	single nucleotide variant	NM_001083116.3(PRF1):c.496C>T (p.Gln166Ter)	PRF1-related disorder [RCV003416883]	likely pathogenic	10	70600407	70600407	Human		name , trait , alternate_id
401948748	CV2835197	single nucleotide variant	NM_001083116.3(PRF1):c.694C>T (p.Arg232Cys)	Aplastic anemia [RCV003472529]\|Aplastic anemia [RCV005047608]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV003514649]	pathogenic\|likely pathogenic	10	70599027	70599027	Human	3	name
401948917	CV2835198	single nucleotide variant	NM_001083116.3(PRF1):c.523G>T (p.Glu175Ter)	Aplastic anemia [RCV003472530]\|not provided [RCV005412554]	pathogenic\|likely pathogenic	10	70600380	70600380	Human	2	name
401947886	CV2835200	single nucleotide variant	NM_001083116.3(PRF1):c.478C>T (p.Gln160Ter)	Aplastic anemia [RCV003471737]	likely pathogenic	10	70600425	70600425	Human	2	name
401943532	CV2835203	single nucleotide variant	NM_001083116.3(PRF1):c.394G>A (p.Gly132Arg)	Aplastic anemia [RCV003463370]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV005100209]\|Familial hemophagocytic lymphohistiocytosis [RCV004765849]\|not provided [RCV004719333]	pathogenic\|likely pathogenic	10	70600509	70600509	Human	4	name
401943535	CV2835205	single nucleotide variant	NM_001083116.3(PRF1):c.916G>T (p.Gly306Cys)	Aplastic anemia [RCV003463371]\|Aplastic anemia [RCV005047609]\|Familial hemophagocytic lymphohistiocytosis [RCV004526989]	pathogenic	10	70598805	70598805	Human	3	name
405008778	CV2860876	single nucleotide variant	NM_001083116.3(PRF1):c.495C>G (p.Asp165Glu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003514755]	uncertain significance	10	70600408	70600408	Human	1	name
8563840	CV28750	single nucleotide variant	NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp)	Aplastic anemia [RCV003473102]\|Autoinflammatory syndrome [RCV002260964]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000014711]\|Familial hemophagocytic lymphohistiocytosis [RCV002281706]\|Familial hemophagocytic lymphohistiocytosis type 1 [RCV004814906]\|Inborn genetic diseases [RCV002513053]	pathogenic	10	70599048	70599048	Human	6	name
8563843	CV28753	single nucleotide variant	NM_001083116.3(PRF1):c.836G>A (p.Cys279Tyr)	Aplastic anemia [RCV003466860]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000014714]\|Familial hemophagocytic lymphohistiocytosis [RCV005237379]	pathogenic\|likely pathogenic	10	70598885	70598885	Human	4	name
8563844	CV28754	single nucleotide variant	NM_001083116.3(PRF1):c.548T>G (p.Val183Gly)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000014715]	pathogenic	10	70599173	70599173	Human	1	name
8563845	CV28755	single nucleotide variant	NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser)	Autoinflammatory syndrome [RCV002260965]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000014716]\|not provided [RCV000767055]\|not specified [RCV000246747]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	70598966	70598966	Human	2	name
405025356	CV2901434	deletion	NM_001083116.3(PRF1):c.1451del (p.Asp484fs)	Aplastic anemia [RCV004574100]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV003516317]	pathogenic	10	70598270	70598270	Human	3	name
405025381	CV2901437	single nucleotide variant	NM_001083116.3(PRF1):c.577T>C (p.Phe193Leu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003516319]	likely pathogenic	10	70599144	70599144	Human	1	name
405025391	CV2901438	single nucleotide variant	NM_001083116.3(PRF1):c.490C>T (p.Gln164Ter)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003516320]	pathogenic	10	70600413	70600413	Human	1	name
402488266	CV2936924	single nucleotide variant	NM_001083116.3(PRF1):c.587C>T (p.Ala196Val)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003626905]	uncertain significance	10	70599134	70599134	Human	1	name
402497169	CV2973368	single nucleotide variant	NM_001083116.3(PRF1):c.625C>T (p.Gln209Ter)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627874]	pathogenic	10	70599096	70599096	Human	1	name
402499059	CV2982991	single nucleotide variant	NM_001083116.3(PRF1):c.884C>A (p.Thr295Asn)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628077]	uncertain significance	10	70598837	70598837	Human	1	name
402502338	CV3008002	single nucleotide variant	NM_001083116.3(PRF1):c.888C>G (p.Tyr296Ter)	Aplastic anemia [RCV005051358]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV003628440]	pathogenic\|likely pathogenic	10	70598833	70598833	Human	3	name
402490071	CV3050664	single nucleotide variant	NM_001083116.3(PRF1):c.984G>A (p.Trp328Ter)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627097]	pathogenic	10	70598737	70598737	Human	1	name
402490092	CV3050820	single nucleotide variant	NM_001083116.3(PRF1):c.319A>C (p.Thr107Pro)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003627099]	uncertain significance	10	70600584	70600584	Human	1	name
402492746	CV3062547	duplication	NM_001083116.3(PRF1):c.1273dup (p.Trp425fs)	Aplastic anemia [RCV004573273]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV003627377]	pathogenic	10	70598447	70598448	Human	3	name
11663342	CV310618	single nucleotide variant	NM_001083116.3(PRF1):c.941T>C (p.Leu314Pro)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000395073]	uncertain significance	10	70598780	70598780	Human	1	name
405185862	CV3149012	single nucleotide variant	NM_001083116.3(PRF1):c.904G>T (p.Glu302Ter)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003842934]\|PRF1-related disorder [RCV003984435]\|not provided [RCV004721232]	pathogenic\|likely pathogenic	10	70598817	70598817	Human	1	name , trait , alternate_id
405268696	CV3201115	single nucleotide variant	NM_001083116.3(PRF1):c.790G>A (p.Val264Ile)	PRF1-related disorder [RCV003899223]	uncertain significance	10	70598931	70598931	Human		name , trait , alternate_id
11604754	CV321895	single nucleotide variant	NM_001083116.3(PRF1):c.695G>A (p.Arg232His)	Aplastic anemia [RCV003475926]\|Aplastic anemia [RCV005044557]\|Autoinflammatory syndrome [RCV002261037]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000312372]\|not provided [RCV004719795]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	10	70599026	70599026	Human	4	name
11608414	CV321898	single nucleotide variant	NM_001083116.3(PRF1):c.434T>C (p.Val145Ala)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000354536]	conflicting interpretations of pathogenicity\|uncertain significance	10	70600469	70600469	Human	1	name
11607295	CV322593	single nucleotide variant	NM_001083116.3(PRF1):c.961G>A (p.Gly321Arg)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000792070]\|not provided [RCV003129825]	uncertain significance	10	70598760	70598760	Human	1	name
405670094	CV3378050	single nucleotide variant	NM_001083116.3(PRF1):c.415C>T (p.Pro139Ser)	Inborn genetic diseases [RCV004514975]	uncertain significance	10	70600488	70600488	Human	1	name
405871078	CV3399189	duplication	NM_001083116.3(PRF1):c.1573dup (p.Cys525fs)	Aplastic anemia [RCV004574620]	likely pathogenic	10	70598147	70598148	Human	2	name
405871046	CV3399190	single nucleotide variant	NM_001083116.3(PRF1):c.726C>A (p.Cys242Ter)	Aplastic anemia [RCV004574621]	likely pathogenic	10	70598995	70598995	Human	2	name
407427390	CV3410646	single nucleotide variant	NM_001083116.3(PRF1):c.508A>C (p.Ser170Arg)	not specified [RCV004586293]	uncertain significance	10	70600395	70600395	Human		name
407465228	CV3464250	single nucleotide variant	NM_001083116.3(PRF1):c.811A>T (p.Ser271Cys)	Inborn genetic diseases [RCV004660152]	uncertain significance	10	70598910	70598910	Human	1	name
407465229	CV3464251	single nucleotide variant	NM_001083116.3(PRF1):c.556A>G (p.Thr186Ala)	Inborn genetic diseases [RCV004660153]	uncertain significance	10	70599165	70599165	Human	1	name
408365240	CV3500640	single nucleotide variant	NM_001083116.3(PRF1):c.647T>C (p.Ile216Thr)	Familial hemophagocytic lymphohistiocytosis 2 [RCV004720665]	uncertain significance	10	70599074	70599074	Human	1	name
408385266	CV3526045	single nucleotide variant	NM_001083116.3(PRF1):c.973T>C (p.Tyr325His)	not specified [RCV004766956]	uncertain significance	10	70598748	70598748	Human		name
596932522	CV3539144	single nucleotide variant	NM_001083116.3(PRF1):c.439G>A (p.Val147Met)	not provided [RCV004793270]	uncertain significance	10	70600464	70600464	Human		name
596942040	CV3543949	single nucleotide variant	NM_001083116.3(PRF1):c.382G>T (p.Asp128Tyr)	not specified [RCV004799939]	uncertain significance	10	70600521	70600521	Human		name
596942886	CV3544235	single nucleotide variant	NM_001083116.3(PRF1):c.665A>T (p.His222Leu)	not specified [RCV004800228]	uncertain significance	10	70599056	70599056	Human		name
596943692	CV3544339	single nucleotide variant	NM_001083116.3(PRF1):c.665A>G (p.His222Arg)	Familial hemophagocytic lymphohistiocytosis [RCV004800819]	pathogenic	10	70599056	70599056	Human	1	name
596943829	CV3544401	single nucleotide variant	NM_001083116.3(PRF1):c.724T>G (p.Cys242Gly)	Familial hemophagocytic lymphohistiocytosis 2 [RCV005061449]\|not specified [RCV004800881]	pathogenic\|uncertain significance	10	70598997	70598997	Human	1	name
597694686	CV3581341	single nucleotide variant	NM_001083116.3(PRF1):c.648C>G (p.Ile216Met)	Inborn genetic diseases [RCV004954648]	uncertain significance	10	70599073	70599073	Human	1	name
12849116	CV371392	single nucleotide variant	NM_001083116.3(PRF1):c.443C>G (p.Ala148Gly)	not provided [RCV000424261]\|not specified [RCV003479114]	likely pathogenic\|uncertain significance	10	70600460	70600460	Human		name
597670383	CV3726408	single nucleotide variant	NM_001083116.3(PRF1):c.457C>T (p.Gln153Ter)	Aplastic anemia [RCV005043873]	likely pathogenic	10	70600446	70600446	Human	2	name
597670409	CV3726424	single nucleotide variant	NM_001083116.3(PRF1):c.387G>A (p.Trp129Ter)	Aplastic anemia [RCV005043876]	likely pathogenic	10	70600516	70600516	Human	2	name
597844394	CV3736142	single nucleotide variant	NM_001083116.3(PRF1):c.902C>T (p.Ser301Leu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV005065490]	uncertain significance	10	70598819	70598819	Human	1	name
597890378	CV3839736	single nucleotide variant	NM_001083116.3(PRF1):c.362C>T (p.Ala121Val)	Familial hemophagocytic lymphohistiocytosis 2 [RCV005179628]	uncertain significance	10	70600541	70600541	Human	1	name
597965403	CV3848347	single nucleotide variant	NM_001083116.3(PRF1):c.701C>T (p.Ser234Leu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV005194227]\|Inborn genetic diseases [RCV005269213]	uncertain significance	10	70599020	70599020	Human	2	name
13213167	CV429125	single nucleotide variant	NM_001083116.3(PRF1):c.311G>A (p.Arg104His)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000527989]\|not specified [RCV000499642]	uncertain significance	10	70600592	70600592	Human	1	name
13469034	CV460230	single nucleotide variant	NM_001083116.3(PRF1):c.916G>A (p.Gly306Ser)	Aplastic anemia [RCV003476294]\|Aplastic anemia [RCV005044824]\|Autoinflammatory syndrome [RCV002261113]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000544869]\|Familial hemophagocytic lymphohistiocytosis [RCV004701631]	pathogenic\|likely pathogenic\|uncertain significance	10	70598805	70598805	Human	5	name
13469216	CV460486	single nucleotide variant	NM_001083116.3(PRF1):c.992C>T (p.Ser331Leu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000545065]	uncertain significance	10	70598729	70598729	Human	1	name
13464739	CV460488	single nucleotide variant	NM_001083116.3(PRF1):c.632C>T (p.Ala211Val)	Autoinflammatory syndrome [RCV002261111]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000988375]\|Lymphoma, non-Hodgkin, familial [RCV003316710]\|not provided [RCV003419966]	benign\|likely benign\|uncertain significance	10	70599089	70599089	Human	3	name
13504083	CV460498	single nucleotide variant	NM_001083116.3(PRF1):c.550G>A (p.Val184Ile)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000554502]	uncertain significance	10	70599171	70599171	Human	1	name
13530465	CV511872	single nucleotide variant	NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser)	Aplastic anemia [RCV001331590]\|Aplastic anemia [RCV002483745]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000819599]\|Familial hemophagocytic lymphohistiocytosis [RCV003479176]\|Inborn genetic diseases [RCV000622519]\|not provided [RCV002473073]	pathogenic\|likely pathogenic	10	70600458	70600458	Human	5	name
13530057	CV513595	deletion	NM_001083116.3(PRF1):c.1175del (p.Pro392fs)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000626236]	likely pathogenic	10	70598546	70598546	Human	1	name
13608826	CV525338	single nucleotide variant	NM_001083116.3(PRF1):c.631G>A (p.Ala211Thr)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000644563]\|not specified [RCV003994061]	uncertain significance	10	70599090	70599090	Human	1	name
13608845	CV525342	single nucleotide variant	NM_001083116.3(PRF1):c.403G>A (p.Val135Met)	Autoinflammatory syndrome [RCV002261152]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000644573]\|not provided [RCV004718761]	benign\|likely benign	10	70600500	70600500	Human	2	name
13608832	CV525343	single nucleotide variant	NM_001083116.3(PRF1):c.376C>T (p.Arg126Cys)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000644566]	uncertain significance	10	70600527	70600527	Human	1	name
13608815	CV525781	single nucleotide variant	NM_001083116.3(PRF1):c.382G>A (p.Asp128Asn)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000644559]\|not provided [RCV004791666]	uncertain significance	10	70600521	70600521	Human	1	name
13705018	CV539416	single nucleotide variant	NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser)	Aplastic anemia [RCV003472061]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000663339]\|Familial hemophagocytic lymphohistiocytosis [RCV001779038]	pathogenic\|likely pathogenic	10	70600517	70600517	Human	4	name
13805639	CV563901	single nucleotide variant	NM_001083116.3(PRF1):c.749C>T (p.Thr250Met)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000685816]\|not provided [RCV001355294]	uncertain significance	10	70598972	70598972	Human	1	name
13817548	CV563907	single nucleotide variant	NM_001083116.3(PRF1):c.431A>G (p.His144Arg)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000707089]\|Inborn genetic diseases [RCV005260372]	likely benign\|uncertain significance	10	70600472	70600472	Human	2	name
13819359	CV563908	single nucleotide variant	NM_001083116.3(PRF1):c.380A>G (p.Asn127Ser)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000694280]\|not specified [RCV003330907]	uncertain significance	10	70600523	70600523	Human	1	name
13805879	CV564729	single nucleotide variant	NM_001083116.3(PRF1):c.407C>G (p.Thr136Ser)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000685939]\|not provided [RCV004792374]	uncertain significance	10	70600496	70600496	Human	1	name
13818802	CV566441	single nucleotide variant	NM_001083116.3(PRF1):c.570C>A (p.His190Gln)	Aplastic anemia [RCV005392296]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000693964]\|Inborn genetic diseases [RCV005260348]	uncertain significance	10	70599151	70599151	Human	4	name
14396481	CV612290	single nucleotide variant	NM_001083116.3(PRF1):c.674G>C (p.Arg225Pro)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000761454]	uncertain significance	10	70599047	70599047	Human	1	name
14719534	CV639107	single nucleotide variant	NM_001083116.3(PRF1):c.974A>G (p.Tyr325Cys)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000812637]	uncertain significance	10	70598747	70598747	Human	1	name
14731945	CV639108	single nucleotide variant	NM_001083116.3(PRF1):c.866C>T (p.Thr289Met)	Autoinflammatory syndrome [RCV002261228]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000818085]\|Inborn genetic diseases [RCV003243338]	uncertain significance	10	70598855	70598855	Human	3	name
14717973	CV639109	single nucleotide variant	NM_001083116.3(PRF1):c.796A>G (p.Ile266Val)	Aplastic anemia [RCV003467457]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000812070]\|Inborn genetic diseases [RCV002537366]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	70598925	70598925	Human	4	name
14722320	CV639110	single nucleotide variant	NM_001083116.3(PRF1):c.763G>A (p.Glu255Lys)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000797508]\|Inborn genetic diseases [RCV005260395]	uncertain significance	10	70598958	70598958	Human	2	name
14720501	CV639111	single nucleotide variant	NM_001083116.3(PRF1):c.674G>A (p.Arg225Gln)	Aplastic anemia [RCV002487775]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000813053]\|not provided [RCV001356989]\|not specified [RCV002234844]	uncertain significance	10	70599047	70599047	Human	3	name
14702245	CV639112	single nucleotide variant	NM_001083116.3(PRF1):c.671T>C (p.Ile224Thr)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000806842]	uncertain significance	10	70599050	70599050	Human	1	name
14726117	CV639113	single nucleotide variant	NM_001083116.3(PRF1):c.658G>C (p.Gly220Arg)	Aplastic anemia [RCV003467376]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000799081]	pathogenic\|uncertain significance	10	70599063	70599063	Human	3	name
14745092	CV639114	single nucleotide variant	NM_001083116.3(PRF1):c.626A>C (p.Gln209Pro)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000824498]\|not provided [RCV004720016]	pathogenic\|uncertain significance	10	70599095	70599095	Human	1	name
14744661	CV639115	single nucleotide variant	NM_001083116.3(PRF1):c.557C>T (p.Thr186Ile)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000824250]\|Inborn genetic diseases [RCV004958180]	uncertain significance	10	70599164	70599164	Human	2	name
14742526	CV639116	single nucleotide variant	NM_001083116.3(PRF1):c.449C>T (p.Ser150Leu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000822853]	uncertain significance	10	70600454	70600454	Human	1	name
14722234	CV639117	single nucleotide variant	NM_001083116.3(PRF1):c.356G>A (p.Arg119Gln)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000797454]\|Inborn genetic diseases [RCV002537046]	likely benign\|uncertain significance	10	70600547	70600547	Human	2	name
14741866	CV639118	single nucleotide variant	NM_001083116.3(PRF1):c.326C>T (p.Ala109Val)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000822426]	uncertain significance	10	70600577	70600577	Human	1	name
15171339	CV712453	single nucleotide variant	NM_001083116.3(PRF1):c.368G>A (p.Arg123His)	Aplastic anemia [RCV005392603]\|Autoinflammatory syndrome [RCV002261244]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000972179]\|PRF1-related disorder [RCV003413765]\|not provided [RCV001729772]\|not specified [RCV001819121]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	70600535	70600535	Human	5	name , trait , alternate_id
21071922	CV790974	single nucleotide variant	NM_001083116.3(PRF1):c.659G>A (p.Gly220Asp)	Aplastic anemia [RCV003473535]\|Aplastic anemia [RCV005047163]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000988374]\|not specified [RCV001797807]	pathogenic\|likely pathogenic\|uncertain significance	10	70599062	70599062	Human	3	name
26898271	CV837167	single nucleotide variant	NM_001083116.3(PRF1):c.948C>A (p.Phe316Leu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001036396]	uncertain significance	10	70598773	70598773	Human	1	name
26898891	CV837168	single nucleotide variant	NM_001083116.3(PRF1):c.886T>C (p.Tyr296His)	Aplastic anemia [RCV003473620]\|Autoinflammatory syndrome [RCV002261256]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001040065]\|not specified [RCV001797814]	likely pathogenic\|uncertain significance	10	70598835	70598835	Human	4	name
26902742	CV837169	single nucleotide variant	NM_001083116.3(PRF1):c.797T>C (p.Ile266Thr)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001066139]\|not specified [RCV001732032]	uncertain significance	10	70598924	70598924	Human	1	name
26898617	CV837170	single nucleotide variant	NM_001083116.3(PRF1):c.563C>T (p.Pro188Leu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001038442]\|not specified [RCV002307658]	uncertain significance	10	70599158	70599158	Human	1	name
26898165	CV837171	single nucleotide variant	NM_001083116.3(PRF1):c.529C>T (p.Arg177Cys)	Aplastic anemia [RCV002479234]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001035779]\|not specified [RCV001819739]	uncertain significance	10	70600374	70600374	Human	3	name
26903552	CV837172	single nucleotide variant	NM_001083116.3(PRF1):c.518C>T (p.Thr173Met)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001070248]	uncertain significance	10	70600385	70600385	Human	1	name
26898234	CV837173	single nucleotide variant	NM_001083116.3(PRF1):c.512C>A (p.Thr171Asn)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001036107]\|not provided [RCV003128735]\|not specified [RCV003331029]	uncertain significance	10	70600391	70600391	Human	1	name
26902158	CV837175	single nucleotide variant	NM_001083116.3(PRF1):c.442G>A (p.Ala148Thr)	Aplastic anemia [RCV001330254]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001062971]	pathogenic\|uncertain significance	10	70600461	70600461	Human	3	name
26901196	CV837176	single nucleotide variant	NM_001083116.3(PRF1):c.358G>A (p.Asp120Asn)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001056503]	uncertain significance	10	70600545	70600545	Human	1	name
28907302	CV866095	single nucleotide variant	NM_001083116.3(PRF1):c.946T>C (p.Phe316Leu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001107144]	uncertain significance	10	70598775	70598775	Human	1	name
28908401	CV866096	single nucleotide variant	NM_001083116.3(PRF1):c.592G>A (p.Gly198Arg)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001107803]\|not provided [RCV004693651]	uncertain significance	10	70599129	70599129	Human	1	name
38473264	CV925907	single nucleotide variant	NM_001083116.3(PRF1):c.310C>T (p.Arg104Cys)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001223170]\|Inborn genetic diseases [RCV004032466]	uncertain significance	10	70600593	70600593	Human	2	name
38472983	CV935143	single nucleotide variant	NM_001083116.3(PRF1):c.980C>T (p.Ala327Val)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001204863]	uncertain significance	10	70598741	70598741	Human	1	name
38473003	CV935144	single nucleotide variant	NM_001083116.3(PRF1):c.742G>A (p.Gly248Arg)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001206772]	uncertain significance	10	70598979	70598979	Human	1	name
38473119	CV935145	single nucleotide variant	NM_001083116.3(PRF1):c.542T>C (p.Phe181Ser)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001214040]\|Inborn genetic diseases [RCV002561836]	uncertain significance	10	70599179	70599179	Human	2	name
38473508	CV947020	single nucleotide variant	NM_001083116.3(PRF1):c.836G>T (p.Cys279Phe)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001234434]	uncertain significance	10	70598885	70598885	Human	1	name
38473427	CV947021	single nucleotide variant	NM_001083116.3(PRF1):c.791T>C (p.Val264Ala)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001227357]	uncertain significance	10	70598930	70598930	Human	1	name
38473526	CV947022	single nucleotide variant	NM_001083116.3(PRF1):c.658G>A (p.Gly220Ser)	Aplastic anemia [RCV003473808]\|Aplastic anemia [RCV005050302]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001235359]\|Familial hemophagocytic lymphohistiocytosis [RCV003492234]	pathogenic	10	70599063	70599063	Human	4	name
38473581	CV947023	single nucleotide variant	NM_001083116.3(PRF1):c.609C>A (p.His203Gln)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001237607]\|not provided [RCV004762013]	uncertain significance	10	70599112	70599112	Human	1	name
38473536	CV947024	single nucleotide variant	NM_001083116.3(PRF1):c.604C>T (p.His202Tyr)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001235876]\|not provided [RCV003223708]	uncertain significance	10	70599117	70599117	Human	1	name
38473493	CV947025	single nucleotide variant	NM_001083116.3(PRF1):c.479A>C (p.Gln160Pro)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001233163]	uncertain significance	10	70600424	70600424	Human	1	name
38473613	CV956149	single nucleotide variant	NM_001083116.3(PRF1):c.704C>T (p.Ala235Val)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001240176]\|Inborn genetic diseases [RCV002563968]\|PRF1-related disorder [RCV003405437]	uncertain significance	10	70599017	70599017	Human	2	name , trait , alternate_id
38598192	CV964344	single nucleotide variant	NM_001083116.3(PRF1):c.781G>A (p.Glu261Lys)	Aplastic anemia [RCV003462835]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001253459]\|Familial hemophagocytic lymphohistiocytosis [RCV001806090]	pathogenic\|likely pathogenic	10	70598940	70598940	Human	4	name
126743648	CV1017307	single nucleotide variant	NM_001083116.3(PRF1):c.1528T>C (p.Cys510Arg)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001330252]	uncertain significance	10	70598193	70598193	Human	1	name
126738975	CV1020749	single nucleotide variant	NM_001083116.3(PRF1):c.1636C>G (p.Pro546Ala)	Aplastic anemia [RCV001335647]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001865834]	uncertain significance	10	70598085	70598085	Human	3	name
126767041	CV1029702	single nucleotide variant	NM_001083116.3(PRF1):c.1471G>A (p.Asp491Asn)	Aplastic anemia [RCV004570821]\|Aplastic anemia [RCV005040199]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001342664]	likely pathogenic\|uncertain significance	10	70598250	70598250	Human	3	name
126921100	CV1046707	single nucleotide variant	NM_001083116.3(PRF1):c.1424G>A (p.Gly475Glu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001363280]	uncertain significance	10	70598297	70598297	Human	1	name
127254034	CV1055917	single nucleotide variant	NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp)	Aplastic anemia [RCV002499783]\|Aplastic anemia [RCV003473914]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001379074]\|Familial hemophagocytic lymphohistiocytosis [RCV002271649]	pathogenic\|likely pathogenic	10	70598493	70598493	Human	4	name
127265641	CV1061939	single nucleotide variant	NM_001083116.3(PRF1):c.1168C>T (p.Arg390Ter)	Aplastic anemia [RCV003473931]\|Aplastic anemia [RCV005050366]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001381512]\|PRF1-related disorder [RCV004754747]	pathogenic	10	70598553	70598553	Human	4	name , trait , alternate_id
151351909	CV1322103	single nucleotide variant	NM_001083116.3(PRF1):c.1442A>C (p.Gln481Pro)	Aplastic anemia [RCV003475098]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001869491]\|Familial hemophagocytic lymphohistiocytosis [RCV001806726]\|PRF1-related disorder [RCV004754790]\|not provided [RCV003159213]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	10	70598279	70598279	Human	4	name , trait , alternate_id
151356323	CV1329087	single nucleotide variant	NM_001083116.3(PRF1):c.1164C>A (p.Ser388Arg)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002542676]\|not specified [RCV001822676]	uncertain significance	10	70598557	70598557	Human	1	name
151836255	CV1347202	single nucleotide variant	NM_001083116.3(PRF1):c.1117C>T (p.Arg373Cys)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002031318]\|not provided [RCV004793714]	uncertain significance	10	70598604	70598604	Human	1	name
151746123	CV1365738	single nucleotide variant	NM_001083116.3(PRF1):c.1365C>A (p.Asp455Glu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001893788]\|Inborn genetic diseases [RCV002554315]	uncertain significance	10	70598356	70598356	Human	2	name
151771538	CV1366400	single nucleotide variant	NM_001083116.3(PRF1):c.1589G>A (p.Gly530Glu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001929564]	uncertain significance	10	70598132	70598132	Human	1	name
151891834	CV1368266	single nucleotide variant	NM_001083116.3(PRF1):c.1322T>C (p.Leu441Pro)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001888861]\|Inborn genetic diseases [RCV005262576]	uncertain significance	10	70598399	70598399	Human	2	name
151848973	CV1441960	single nucleotide variant	NM_001083116.3(PRF1):c.1117C>G (p.Arg373Gly)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001995710]	uncertain significance	10	70598604	70598604	Human	1	name
151834847	CV1446903	single nucleotide variant	NM_001083116.3(PRF1):c.1196G>T (p.Gly399Val)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002031174]	uncertain significance	10	70598525	70598525	Human	1	name
151855835	CV1448858	single nucleotide variant	NM_001083116.3(PRF1):c.1199C>T (p.Ser400Leu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001979511]\|Inborn genetic diseases [RCV004044578]	uncertain significance	10	70598522	70598522	Human	2	name
151807510	CV1450135	single nucleotide variant	NM_001083116.3(PRF1):c.1265T>C (p.Ile422Thr)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001899635]	uncertain significance	10	70598456	70598456	Human	1	name
151883538	CV1452397	single nucleotide variant	NM_001083116.3(PRF1):c.1039C>A (p.His347Asn)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002037361]	uncertain significance	10	70598682	70598682	Human	1	name
151824788	CV1456536	single nucleotide variant	NM_001083116.3(PRF1):c.1660G>A (p.Val554Met)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002050150]	uncertain significance	10	70598061	70598061	Human	1	name
151866662	CV1480892	single nucleotide variant	NM_001083116.3(PRF1):c.1033C>A (p.Pro345Thr)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001959913]	uncertain significance	10	70598688	70598688	Human	1	name
151877413	CV1480959	single nucleotide variant	NM_001083116.3(PRF1):c.1211C>T (p.Thr404Ile)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001982077]	uncertain significance	10	70598510	70598510	Human	1	name
151888506	CV1481417	single nucleotide variant	NM_001083116.3(PRF1):c.1267C>T (p.Gln423Ter)	Aplastic anemia [RCV004571751]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001963228]	pathogenic\|likely pathogenic	10	70598454	70598454	Human	3	name
151854031	CV1485289	single nucleotide variant	NM_001083116.3(PRF1):c.1064C>G (p.Pro355Arg)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002033544]	uncertain significance	10	70598657	70598657	Human	1	name
151874090	CV1493480	single nucleotide variant	NM_001083116.3(PRF1):c.1429C>G (p.Pro477Ala)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001906851]	uncertain significance	10	70598292	70598292	Human	1	name
151762160	CV1496554	single nucleotide variant	NM_001083116.3(PRF1):c.1594G>A (p.Gly532Ser)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001895456]\|Inborn genetic diseases [RCV005262573]	uncertain significance	10	70598127	70598127	Human	2	name
151743293	CV1507550	single nucleotide variant	NM_001083116.3(PRF1):c.1277G>C (p.Gly426Ala)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001968360]	uncertain significance	10	70598444	70598444	Human	1	name
151853309	CV1514567	single nucleotide variant	NM_001083116.3(PRF1):c.1283G>T (p.Trp428Leu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001979225]	uncertain significance	10	70598438	70598438	Human	1	name
152040839	CV1669783	single nucleotide variant	NM_001083116.3(PRF1):c.1314T>A (p.Tyr438Ter)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003089183]\|not provided [RCV002224684]	pathogenic\|likely pathogenic	10	70598407	70598407	Human	1	name
152984235	CV1675175	single nucleotide variant	NM_001083116.3(PRF1):c.1183T>C (p.Cys395Arg)	Familial hemophagocytic lymphohistiocytosis [RCV002238590]	likely pathogenic	10	70598538	70598538	Human	1	name
152981761	CV1677058	single nucleotide variant	NM_001083116.3(PRF1):c.1511G>T (p.Gly504Val)	not specified [RCV002248126]	uncertain significance	10	70598210	70598210	Human		name
152983282	CV1678107	single nucleotide variant	NM_001083116.3(PRF1):c.1016T>G (p.Val339Gly)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002250263]	pathogenic	10	70598705	70598705	Human	1	name
153000561	CV1683143	single nucleotide variant	NM_001083116.3(PRF1):c.1127A>G (p.Asp376Gly)	See cases [RCV002253153]	uncertain significance	10	70598594	70598594	Human		name
153303990	CV1686558	single nucleotide variant	NM_001083116.3(PRF1):c.1001G>A (p.Gly334Asp)	Autoinflammatory syndrome [RCV002261992]	uncertain significance	10	70598720	70598720	Human	1	name
153303991	CV1686559	single nucleotide variant	NM_001083116.3(PRF1):c.1226C>T (p.Pro409Leu)	Autoinflammatory syndrome [RCV002261993]	uncertain significance	10	70598495	70598495	Human	1	name
155682135	CV1776760	single nucleotide variant	NM_001083116.3(PRF1):c.1497G>C (p.Gln499His)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002298296]	uncertain significance	10	70598224	70598224	Human	1	name
155743128	CV1777472	single nucleotide variant	NM_001083116.3(PRF1):c.1540C>G (p.His514Asp)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002302972]	uncertain significance	10	70598181	70598181	Human	1	name
155945698	CV1875471	single nucleotide variant	NM_001083116.3(PRF1):c.1042G>C (p.Val348Leu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003073832]	uncertain significance	10	70598679	70598679	Human	1	name
156063551	CV1877873	single nucleotide variant	NM_001083116.3(PRF1):c.1229G>C (p.Arg410Pro)	Aplastic anemia [RCV003475490]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV003037342]\|Familial hemophagocytic lymphohistiocytosis [RCV004690347]	pathogenic\|likely pathogenic	10	70598492	70598492	Human	4	name
156203673	CV1877874	single nucleotide variant	NM_001083116.3(PRF1):c.1034C>G (p.Pro345Arg)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003058251]\|not provided [RCV003232780]\|not specified [RCV005239613]	pathogenic\|uncertain significance	10	70598687	70598687	Human	1	name
156293025	CV1926613	single nucleotide variant	NM_001083116.3(PRF1):c.1244C>G (p.Ala415Gly)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002628894]	uncertain significance	10	70598477	70598477	Human	1	name
156303226	CV1933623	single nucleotide variant	NM_001083116.3(PRF1):c.1411C>T (p.Leu471Phe)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002629356]	uncertain significance	10	70598310	70598310	Human	1	name
156312791	CV1934642	single nucleotide variant	NM_001083116.3(PRF1):c.1378A>G (p.Ile460Val)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002629876]	uncertain significance	10	70598343	70598343	Human	1	name
155969921	CV1968186	single nucleotide variant	NM_001083116.3(PRF1):c.1450G>A (p.Asp484Asn)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002617132]	uncertain significance	10	70598271	70598271	Human	1	name
156176288	CV1968642	single nucleotide variant	NM_001083116.3(PRF1):c.1025C>T (p.Thr342Ile)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002594928]	uncertain significance	10	70598696	70598696	Human	1	name
155988991	CV1979764	single nucleotide variant	NM_001083116.3(PRF1):c.1169G>A (p.Arg390Gln)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002617936]	uncertain significance	10	70598552	70598552	Human	1	name
156006237	CV2015043	single nucleotide variant	NM_001083116.3(PRF1):c.1005C>A (p.Ser335Arg)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002690283]	uncertain significance	10	70598716	70598716	Human	1	name
156187133	CV2020718	single nucleotide variant	NM_001083116.3(PRF1):c.1210A>G (p.Thr404Ala)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002710963]	uncertain significance	10	70598511	70598511	Human	1	name
155909444	CV2027877	single nucleotide variant	NM_001083116.3(PRF1):c.1454A>G (p.Gln485Arg)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002726692]	uncertain significance	10	70598267	70598267	Human	1	name
156174461	CV2053508	single nucleotide variant	NM_001083116.3(PRF1):c.1490G>C (p.Cys497Ser)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002802052]\|not provided [RCV003320900]	uncertain significance	10	70598231	70598231	Human	1	name
156006873	CV2054365	single nucleotide variant	NM_001083116.3(PRF1):c.1132A>T (p.Ser378Cys)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002819921]\|not provided [RCV003151903]	uncertain significance	10	70598589	70598589	Human	1	name
10405620	CV213598	single nucleotide variant	NM_001083116.3(PRF1):c.1337A>C (p.Gln446Pro)	Aplastic anemia [RCV003474966]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000196330]\|not provided [RCV004719747]	pathogenic\|likely pathogenic	10	70598384	70598384	Human	3	name
155943429	CV2154482	single nucleotide variant	NM_001083116.3(PRF1):c.1324T>C (p.Phe442Leu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003014418]	uncertain significance	10	70598397	70598397	Human	1	name
155953794	CV2161500	single nucleotide variant	NM_001083116.3(PRF1):c.1280T>G (p.Leu427Arg)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003032576]	uncertain significance	10	70598441	70598441	Human	1	name
156319509	CV2182479	single nucleotide variant	NM_001083116.3(PRF1):c.1430C>T (p.Pro477Leu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003046509]	uncertain significance	10	70598291	70598291	Human	1	name
156243112	CV2231486	single nucleotide variant	NM_001083116.3(PRF1):c.1648C>T (p.Arg550Trp)	Inborn genetic diseases [RCV002713501]	uncertain significance	10	70598073	70598073	Human	1	name
156209064	CV2250176	single nucleotide variant	NM_001083116.3(PRF1):c.1615C>T (p.Pro539Ser)	Inborn genetic diseases [RCV002803956]	uncertain significance	10	70598106	70598106	Human	1	name
156071207	CV2254830	single nucleotide variant	NM_001083116.3(PRF1):c.1238G>C (p.Gly413Ala)	Inborn genetic diseases [RCV002797411]	uncertain significance	10	70598483	70598483	Human	1	name
243056292	CV2418652	single nucleotide variant	NM_001083116.3(PRF1):c.1180C>T (p.Gln394Ter)	Familial hemophagocytic lymphohistiocytosis [RCV003155615]	likely pathogenic	10	70598541	70598541	Human	1	name
329953852	CV2669189	single nucleotide variant	NM_001083116.3(PRF1):c.1130G>A (p.Cys377Tyr)	Aplastic anemia [RCV004572887]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV005102461]\|not provided [RCV003231693]\|not specified [RCV005240732]	pathogenic\|likely pathogenic\|uncertain significance	10	70598591	70598591	Human	3	name
401743343	CV2674638	single nucleotide variant	NM_001083116.3(PRF1):c.1418C>G (p.Ala473Gly)	Inborn genetic diseases [RCV003241353]	uncertain significance	10	70598303	70598303	Human	1	name
401884419	CV2761724	single nucleotide variant	NM_001083116.3(PRF1):c.1165C>T (p.Pro389Ser)	Inborn genetic diseases [RCV003366179]	uncertain significance	10	70598556	70598556	Human	1	name
401948206	CV2832239	single nucleotide variant	NM_001083116.3(PRF1):c.1284G>A (p.Trp428Ter)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003447764]	likely pathogenic	10	70598437	70598437	Human	1	name
401948744	CV2835193	single nucleotide variant	NM_001083116.3(PRF1):c.1383G>A (p.Trp461Ter)	Aplastic anemia [RCV003472525]	likely pathogenic	10	70598338	70598338	Human	2	name
401947888	CV2835204	single nucleotide variant	NM_001083116.3(PRF1):c.1096C>T (p.Gln366Ter)	Aplastic anemia [RCV003471738]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV003626870]	pathogenic\|likely pathogenic	10	70598625	70598625	Human	3	name
401947890	CV2835206	single nucleotide variant	NM_001083116.3(PRF1):c.1519G>T (p.Glu507Ter)	Aplastic anemia [RCV003471739]	pathogenic	10	70598202	70598202	Human	2	name
401947892	CV2835208	single nucleotide variant	NM_001083116.3(PRF1):c.1274G>A (p.Trp425Ter)	Aplastic anemia [RCV003471740]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV003626871]	pathogenic\|likely pathogenic	10	70598447	70598447	Human	3	name
401961814	CV2844136	single nucleotide variant	NM_001083116.3(PRF1):c.1283G>C (p.Trp428Ser)	not provided [RCV003481977]	uncertain significance	10	70598438	70598438	Human		name
404981470	CV2850858	single nucleotide variant	NM_001083116.3(PRF1):c.1349C>A (p.Thr450Lys)	not provided [RCV003488305]	uncertain significance	10	70598372	70598372	Human		name
8563838	CV28748	single nucleotide variant	NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter)	Aplastic anemia [RCV003473101]\|Aplastic anemia [RCV005042053]\|Autoinflammatory syndrome [RCV002260963]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000014708]\|Inborn genetic diseases [RCV002513052]\|not provided [RCV000760450]	pathogenic\|conflicting interpretations of pathogenicity	10	70598599	70598599	Human	5	name
8563841	CV28751	single nucleotide variant	NM_001083116.3(PRF1):c.1286G>A (p.Gly429Glu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000014712]	pathogenic	10	70598435	70598435	Human	1	name
8563842	CV28752	single nucleotide variant	NM_001083116.3(PRF1):c.1034C>T (p.Pro345Leu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000014713]\|not specified [RCV002281707]	pathogenic\|uncertain significance	10	70598687	70598687	Human	1	name
8563846	CV28756	single nucleotide variant	NM_001083116.3(PRF1):c.1304C>T (p.Thr435Met)	Aplastic anemia [RCV003473103]\|Aplastic anemia [RCV005394152]\|Autoinflammatory syndrome [RCV002260966]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000014718]	pathogenic\|likely pathogenic\|uncertain significance	10	70598417	70598417	Human	4	name
8563848	CV28758	single nucleotide variant	NM_001083116.3(PRF1):c.1163G>T (p.Ser388Ile)	Aplastic anemia [RCV000014722]\|not specified [RCV004700235]	pathogenic\|uncertain significance	10	70598558	70598558	Human	2	name
8563852	CV28762	single nucleotide variant	NM_001083116.3(PRF1):c.1246C>T (p.Gln416Ter)	Aplastic anemia [RCV003460478]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000014726]	pathogenic	10	70598475	70598475	Human	3	name
405025368	CV2901435	single nucleotide variant	NM_001083116.3(PRF1):c.1283G>A (p.Trp428Ter)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003516318]	pathogenic	10	70598438	70598438	Human	1	name
405014036	CV2910767	single nucleotide variant	NM_001083116.3(PRF1):c.1448G>A (p.Trp483Ter)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003515240]	pathogenic	10	70598273	70598273	Human	1	name
402488827	CV2938039	single nucleotide variant	NM_001083116.3(PRF1):c.1156C>T (p.Gln386Ter)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003626963]	pathogenic	10	70598565	70598565	Human	1	name
402489636	CV2953077	single nucleotide variant	NM_001083116.3(PRF1):c.1213C>T (p.Gln405Ter)	Aplastic anemia [RCV004574175]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV003627048]	pathogenic\|likely pathogenic	10	70598508	70598508	Human	3	name
402500869	CV2995648	single nucleotide variant	NM_001083116.3(PRF1):c.1231C>T (p.Gln411Ter)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628289]	pathogenic	10	70598490	70598490	Human	1	name
402485966	CV3036493	single nucleotide variant	NM_001083116.3(PRF1):c.1268A>C (p.Gln423Pro)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003626489]	uncertain significance	10	70598453	70598453	Human	1	name
11610043	CV310617	single nucleotide variant	NM_001083116.3(PRF1):c.1310C>T (p.Ala437Val)	Autoinflammatory syndrome [RCV002261036]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000701304]\|Inborn genetic diseases [RCV002520610]\|not provided [RCV001529197]\|not specified [RCV002282115]	conflicting interpretations of pathogenicity\|uncertain significance	10	70598411	70598411	Human	3	name
405232688	CV3144926	single nucleotide variant	NM_001083116.3(PRF1):c.1134C>A (p.Ser378Arg)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003853183]	uncertain significance	10	70598587	70598587	Human	1	name
405269382	CV3187338	single nucleotide variant	NM_001083116.3(PRF1):c.1151G>C (p.Gly384Ala)	not provided [RCV003887422]	uncertain significance	10	70598570	70598570	Human		name
405289019	CV3193901	single nucleotide variant	NM_001083116.3(PRF1):c.1142G>A (p.Cys381Tyr)	Familial hemophagocytic lymphohistiocytosis 2 [RCV005103141]\|PRF1-related disorder [RCV003983403]	likely pathogenic\|uncertain significance	10	70598579	70598579	Human	1	name , trait , alternate_id
11601876	CV321894	single nucleotide variant	NM_001083116.3(PRF1):c.1112G>A (p.Arg371Lys)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000797232]	uncertain significance	10	70598609	70598609	Human	1	name
405670072	CV3378047	single nucleotide variant	NM_001083116.3(PRF1):c.1136G>T (p.Arg379Leu)	Inborn genetic diseases [RCV004514972]	uncertain significance	10	70598585	70598585	Human	1	name
405670078	CV3378048	single nucleotide variant	NM_001083116.3(PRF1):c.1492G>T (p.Asp498Tyr)	Inborn genetic diseases [RCV004514973]	uncertain significance	10	70598229	70598229	Human	1	name
405871038	CV3399191	single nucleotide variant	NM_001083116.3(PRF1):c.1288G>T (p.Asp430Tyr)	Aplastic anemia [RCV004574622]	likely pathogenic	10	70598433	70598433	Human	2	name
597694677	CV3581340	single nucleotide variant	NM_001083116.3(PRF1):c.1649G>A (p.Arg550Gln)	Inborn genetic diseases [RCV004954647]	uncertain significance	10	70598072	70598072	Human	1	name
597670093	CV3726272	single nucleotide variant	NM_001083116.3(PRF1):c.1179C>A (p.Cys393Ter)	Aplastic anemia [RCV005043841]	likely pathogenic	10	70598542	70598542	Human	2	name
597851958	CV3758521	single nucleotide variant	NM_001083116.3(PRF1):c.1567G>A (p.Ala523Thr)	Familial hemophagocytic lymphohistiocytosis 2 [RCV005088080]	uncertain significance	10	70598154	70598154	Human	1	name
597908608	CV3773569	single nucleotide variant	NM_001083116.3(PRF1):c.1391G>A (p.Arg464Gln)	Familial hemophagocytic lymphohistiocytosis 2 [RCV005113440]	uncertain significance	10	70598330	70598330	Human	1	name
12854325	CV384626	single nucleotide variant	NM_001083116.3(PRF1):c.1120T>G (p.Trp374Gly)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000449644]	likely pathogenic	10	70598601	70598601	Human	1	name
598125138	CV3883823	single nucleotide variant	NM_001083116.3(PRF1):c.1046T>G (p.Leu349Arg)	not provided [RCV005236178]	likely pathogenic	10	70598675	70598675	Human		name
616940008	CV4014267	single nucleotide variant	NM_001083116.3(PRF1):c.1601G>A (p.Cys534Tyr)	not provided [RCV005413761]	uncertain significance	10	70598120	70598120	Human		name
13214579	CV429124	single nucleotide variant	NM_001083116.3(PRF1):c.1136G>A (p.Arg379Gln)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001330250]\|not specified [RCV000501445]	uncertain significance	10	70598585	70598585	Human	1	name
13493971	CV460114	single nucleotide variant	NM_001083116.3(PRF1):c.1219T>G (p.Cys407Gly)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000558565]	uncertain significance	10	70598502	70598502	Human	1	name
13471833	CV460482	single nucleotide variant	NM_001083116.3(PRF1):c.1349C>T (p.Thr450Met)	Aplastic anemia [RCV003476292]\|Aplastic anemia [RCV005398810]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000547072]\|not provided [RCV001783053]	pathogenic\|likely pathogenic	10	70598372	70598372	Human	3	name
13518084	CV493972	single nucleotide variant	NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp)	Aplastic anemia [RCV003471967]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000985008]\|not provided [RCV000597038]	pathogenic\|likely pathogenic	10	70598640	70598640	Human	3	name
13608819	CV525442	single nucleotide variant	NM_001083116.3(PRF1):c.1427G>A (p.Gly476Glu)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000644560]	uncertain significance	10	70598294	70598294	Human	1	name
13608821	CV525444	single nucleotide variant	NM_001083116.3(PRF1):c.1207A>G (p.Thr403Ala)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000644561]\|Inborn genetic diseases [RCV004659140]	uncertain significance	10	70598514	70598514	Human	2	name
13608830	CV525518	single nucleotide variant	NM_001083116.3(PRF1):c.1000G>A (p.Gly334Ser)	Aplastic anemia [RCV005392213]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000644565]\|Inborn genetic diseases [RCV002530015]\|not provided [RCV003237971]\|not specified [RCV003479184]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	70598721	70598721	Human	4	name
13627229	CV525779	single nucleotide variant	NM_001083116.3(PRF1):c.1153C>T (p.Arg385Trp)	Aplastic anemia [RCV003472035]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000644572]\|Inborn genetic diseases [RCV004025667]\|not provided [RCV003133440]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	70598568	70598568	Human	4	name
13794651	CV552144	single nucleotide variant	NM_001083116.3(PRF1):c.1385C>A (p.Ser462Ter)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000680078]	pathogenic	10	70598336	70598336	Human	1	name
13814397	CV564712	single nucleotide variant	NM_001083116.3(PRF1):c.1313A>G (p.Tyr438Cys)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000705007]	uncertain significance	10	70598408	70598408	Human	1	name
13814666	CV564716	single nucleotide variant	NM_001083116.3(PRF1):c.1106C>T (p.Thr369Met)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000691038]\|not provided [RCV005409720]\|not specified [RCV005418304]	likely benign\|uncertain significance	10	70598615	70598615	Human	1	name
13808209	CV569751	single nucleotide variant	NM_001083116.3(PRF1):c.1542T>A (p.His514Gln)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000687167]	uncertain significance	10	70598179	70598179	Human	1	name
13808561	CV569754	single nucleotide variant	NM_001083116.3(PRF1):c.1444G>T (p.Val482Phe)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000701727]	uncertain significance	10	70598277	70598277	Human	1	name
14739331	CV639103	single nucleotide variant	NM_001083116.3(PRF1):c.1390C>T (p.Arg464Trp)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000804899]\|Inborn genetic diseases [RCV004958113]\|not provided [RCV003133640]	uncertain significance	10	70598331	70598331	Human	2	name
14707425	CV639104	single nucleotide variant	NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys)	Aplastic anemia [RCV002487642]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000792321]\|not provided [RCV003130039]\|not specified [RCV004782551]	conflicting interpretations of pathogenicity\|uncertain significance	10	70598459	70598459	Human	3	name
14708552	CV639105	single nucleotide variant	NM_001083116.3(PRF1):c.1144C>T (p.Pro382Ser)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000792635]\|Inborn genetic diseases [RCV004958083]\|not provided [RCV004812367]	uncertain significance	10	70598577	70598577	Human	2	name
14737313	CV639106	single nucleotide variant	NM_001083116.3(PRF1):c.1070G>A (p.Arg357Gln)	Aplastic anemia [RCV002478919]\|Autoinflammatory syndrome [RCV002261229]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000820406]\|Inborn genetic diseases [RCV002537468]\|not provided [RCV003130075]	likely benign\|uncertain significance	10	70598651	70598651	Human	5	name
15128752	CV712449	single nucleotide variant	NM_001083116.3(PRF1):c.1229G>A (p.Arg410Gln)	Aplastic anemia [RCV001335646]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000964139]	likely benign\|uncertain significance	10	70598492	70598492	Human	3	name
15157553	CV724045	single nucleotide variant	NM_001083116.3(PRF1):c.1357G>A (p.Val453Met)	Autoinflammatory syndrome [RCV002261235]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000880840]\|Inborn genetic diseases [RCV002539298]\|PRF1-related disorder [RCV003955816]	benign\|likely benign	10	70598364	70598364	Human	3	name , trait , alternate_id
21071921	CV790973	single nucleotide variant	NM_001083116.3(PRF1):c.1097A>G (p.Gln366Arg)	Aplastic anemia [RCV002489458]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000988373]\|Inborn genetic diseases [RCV004958352]	uncertain significance	10	70598624	70598624	Human	4	name
26900458	CV837165	single nucleotide variant	NM_001083116.3(PRF1):c.1558C>T (p.Arg520Cys)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001050956]	uncertain significance	10	70598163	70598163	Human	1	name
26899995	CV837166	single nucleotide variant	NM_001083116.3(PRF1):c.1202C>T (p.Ala401Val)	Autoinflammatory syndrome [RCV002261260]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001047920]\|not provided [RCV003130121]	uncertain significance	10	70598519	70598519	Human	2	name
28901782	CV866093	single nucleotide variant	NM_001083116.3(PRF1):c.1135C>T (p.Arg379Trp)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001104391]	uncertain significance	10	70598586	70598586	Human	1	name
28901786	CV866094	single nucleotide variant	NM_001083116.3(PRF1):c.1111A>G (p.Arg371Gly)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001104392]	uncertain significance	10	70598610	70598610	Human	1	name
34892518	CV903569	single nucleotide variant	NM_001083116.3(PRF1):c.1046T>C (p.Leu349Pro)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001169866]	likely pathogenic	10	70598675	70598675	Human	1	name
39456300	CV917790	single nucleotide variant	NM_001083116.3(PRF1):c.1018G>A (p.Asp340Asn)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001257084]\|Familial hemophagocytic lymphohistiocytosis [RCV003323810]	likely pathogenic\|conflicting interpretations of pathogenicity	10	70598703	70598703	Human	2	name
38462099	CV919283	single nucleotide variant	NM_001083116.3(PRF1):c.1585C>A (p.Leu529Met)	Lymphoma, non-Hodgkin, familial [RCV001198177]	uncertain significance	10	70598136	70598136	Human	1	name
38473211	CV925902	single nucleotide variant	NM_001083116.3(PRF1):c.1501C>T (p.Pro501Ser)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001219592]	uncertain significance	10	70598220	70598220	Human	1	name
38473126	CV925903	single nucleotide variant	NM_001083116.3(PRF1):c.1429C>A (p.Pro477Thr)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001214390]\|not provided [RCV004695192]	uncertain significance	10	70598292	70598292	Human	1	name
38473280	CV925904	single nucleotide variant	NM_001083116.3(PRF1):c.1334G>A (p.Gly445Asp)	Aplastic anemia [RCV002497765]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001224392]\|not provided [RCV003132294]	uncertain significance	10	70598387	70598387	Human	3	name
38473164	CV925905	single nucleotide variant	NM_001083116.3(PRF1):c.1049T>C (p.Leu350Pro)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001217285]	uncertain significance	10	70598672	70598672	Human	1	name
38473203	CV925906	single nucleotide variant	NM_001083116.3(PRF1):c.1042G>A (p.Val348Met)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001219471]	uncertain significance	10	70598679	70598679	Human	1	name
38473067	CV935142	single nucleotide variant	NM_001083116.3(PRF1):c.1339G>C (p.Glu447Gln)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001210191]	uncertain significance	10	70598382	70598382	Human	1	name
38473565	CV947017	single nucleotide variant	NM_001083116.3(PRF1):c.1477C>T (p.Leu493Phe)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001228867]	uncertain significance	10	70598244	70598244	Human	1	name
38473488	CV947018	single nucleotide variant	NM_001083116.3(PRF1):c.1069C>T (p.Arg357Trp)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001233026]	uncertain significance	10	70598652	70598652	Human	1	name
38473479	CV947019	single nucleotide variant	NM_001083116.3(PRF1):c.1066C>T (p.Arg356Trp)	Aplastic anemia [RCV003462791]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001232661]	pathogenic\|likely pathogenic	10	70598655	70598655	Human	3	name
38473750	CV956146	single nucleotide variant	NM_001083116.3(PRF1):c.1238G>T (p.Gly413Val)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001247036]	uncertain significance	10	70598483	70598483	Human	1	name
126765755	CV993968	single nucleotide variant	NM_001083116.3(PRF1):c.1154G>A (p.Arg385Gln)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001301613]	uncertain significance	10	70598567	70598567	Human	1	name
127265646	CV1061941	deletion	NM_001083116.3(PRF1):c.185_195del (p.Asp62fs)	Aplastic anemia [RCV003473932]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001381513]	pathogenic	10	70600708	70600718	Human	3	name
401948747	CV2835196	duplication	NM_001083116.3(PRF1):c.229_233dup (p.Asn78fs)	Aplastic anemia [RCV003472528]	likely pathogenic	10	70600669	70600670	Human	2	name
405033954	CV2853422	deletion	NM_001083116.3(PRF1):c.218_224del (p.Cys73fs)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003626876]	pathogenic	10	70600679	70600685	Human	1	name
597670442	CV3726441	deletion	NM_001083116.3(PRF1):c.284_285del (p.Trp95fs)	Aplastic anemia [RCV005043879]	likely pathogenic	10	70600618	70600619	Human	2	name
151662892	CV1333525	deletion	NM_001083116.3(PRF1):c.943_949del (p.Leu315fs)	not provided [RCV001837717]	pathogenic	10	70598772	70598778	Human		name
151762178	CV1393496	deletion	NM_001083116.3(PRF1):c.808_812del (p.Gly270fs)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001949278]	pathogenic	10	70598909	70598913	Human	1	name
155969591	CV2079133	deletion	NM_001083116.3(PRF1):c.329_330del (p.Lys110fs)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002881422]	pathogenic	10	70600573	70600574	Human	1	name
401947884	CV2835199	deletion	NM_001083116.3(PRF1):c.982_998del (p.Trp328fs)	Aplastic anemia [RCV003471736]	likely pathogenic	10	70598723	70598739	Human	2	name
402503402	CV3016545	deletion	NM_001083116.3(PRF1):c.431_434del (p.His144fs)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628555]	pathogenic	10	70600469	70600472	Human	1	name
38473746	CV956148	microsatellite	NM_001083116.3(PRF1):c.844AAG[3] (p.Lys285del)	Aplastic anemia [RCV003473833]\|Aplastic anemia [RCV005040094]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV001247037]\|Familial hemophagocytic lymphohistiocytosis [RCV003226450]\|Inborn genetic diseases [RCV004034883]\|not provided [RCV001729821]	pathogenic\|likely pathogenic	10	70598866	70598868	Human		name
126746079	CV1015368	microsatellite	NM_001083116.3(PRF1):c.1189_1190dup (p.His398fs)	Aplastic anemia [RCV003469557]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV003514497]\|Familial hemophagocytic lymphohistiocytosis [RCV001328348]	pathogenic\|likely pathogenic	10	70598530	70598531	Human		name
155908336	CV2072748	deletion	NM_001083116.3(PRF1):c.1406_1428del (p.Asp469fs)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002837521]	pathogenic	10	70598293	70598315	Human	1	name
401947894	CV2835209	deletion	NM_001083116.3(PRF1):c.1078_1079del (p.Leu360fs)	Aplastic anemia [RCV003471741]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV003626872]	pathogenic\|likely pathogenic	10	70598642	70598643	Human	3	name
405018780	CV2875304	microsatellite	NM_001083116.3(PRF1):c.1189_1190del (p.Cys397fs)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003515690]	pathogenic	10	70598531	70598532	Human		name
8563850	CV28760	deletion	NM_001083116.3(PRF1):c.1090_1091del (p.Leu364fs)	Aplastic anemia [RCV003473104]\|Aplastic anemia [RCV005049338]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV000014724]\|Familial hemophagocytic lymphohistiocytosis [RCV004700236]	pathogenic	10	70598630	70598631	Human	4	name
405020458	CV2925794	deletion	NM_001083116.3(PRF1):c.1422_1423del (p.Gly476fs)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003515852]	pathogenic	10	70598298	70598299	Human	1	name
402503636	CV3013427	deletion	NM_001083116.3(PRF1):c.1610_1611del (p.Tyr537fs)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003628580]	likely pathogenic	10	70598110	70598111	Human	1	name
127248835	CV1061940	duplication	NM_001083116.3(PRF1):c.1103_1110dup (p.Arg371Ter)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001384989]	pathogenic	10	70598610	70598611	Human	1	name
401943538	CV2835207	indel	NM_001083116.3(PRF1):c.941_948delinsA (p.Leu314fs)	Aplastic anemia [RCV003463372]	pathogenic	10	70598773	70598780	Human		name
597670332	CV3726359	indel	NM_001083116.3(PRF1):c.730_731delinsG (p.Leu244fs)	Aplastic anemia [RCV005043868]	likely pathogenic	10	70598990	70598991	Human		name
597875991	CV3766553	insertion	NM_001083116.3(PRF1):c.769_770insAGG (p.Cys257Ter)	Familial hemophagocytic lymphohistiocytosis 2 [RCV005108493]	pathogenic	10	70598951	70598952	Human	1	name
26901395	CV837179	deletion	NM_001083116.3(PRF1):c.35_46del (p.Leu12_Leu15del)	Familial hemophagocytic lymphohistiocytosis 2 [RCV001057614]	uncertain significance	10	70600857	70600868	Human	1	name
401948746	CV2835195	indel	NM_001083116.3(PRF1):c.806_812delinsCC (p.His269fs)	Aplastic anemia [RCV003472527]\|Aplastic anemia [RCV005047607]	pathogenic\|likely pathogenic	10	70598909	70598915	Human		name
156369598	CV1905095	indel	NM_001083116.3(PRF1):c.821_822delinsTT (p.Ala274Val)	Familial hemophagocytic lymphohistiocytosis 2 [RCV002582322]	uncertain significance	10	70598899	70598900	Human		name
156063515	CV1877872	deletion	NM_001083116.3(PRF1):c.1428del (p.Pro477_Leu478insTer)	Aplastic anemia [RCV003465919]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV003037341]	pathogenic	10	70598293	70598293	Human	3	name
156240665	CV2085961	deletion	NM_001083116.3(PRF1):c.1422del (p.Pro477_Leu478insTer)	Aplastic anemia [RCV004571410]\|Familial hemophagocytic lymphohistiocytosis 2 [RCV002876584]	pathogenic\|likely pathogenic	10	70598299	70598299	Human	3	name
401743347	CV2674639	deletion	NM_001083116.3(PRF1):c.1432del (p.Pro477_Leu478insTer)	Inborn genetic diseases [RCV003241354]	pathogenic	10	70598289	70598289	Human	1	name
14396480	CV612289	deletion	NM_001083116.3(PRF1):c.851_862del (p.Lys284_Lys287del)	Familial hemophagocytic lymphohistiocytosis 2 [RCV000761453]\|Familial hemophagocytic lymphohistiocytosis [RCV004798866]\|not provided [RCV003329336]	pathogenic\|likely pathogenic\|uncertain significance	10	70598859	70598870	Human	2	name
597670419	CV3726432	duplication	NM_001083116.3(PRF1):c.315_340dup (p.Thr114delinsMetTer)	Aplastic anemia [RCV005043877]	likely pathogenic	10	70600562	70600563	Human	2	name
616939827	CV4014456	deletion	NM_001083116.3(PRF1):c.1040_1045del (p.His347_Val348del)	not provided [RCV005413950]	uncertain significance	10	70598676	70598681	Human		name
405015511	CV2861815	indel	NM_001083116.3(PRF1):c.894_895delinsTT (p.Glu298_Arg299delinsAspCys)	Familial hemophagocytic lymphohistiocytosis 2 [RCV003515360]	pathogenic	10	70598826	70598827	Human		name

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