Thpo Variant Search Result - Rat Genome Database

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202 records found for search term Thpo

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8561088	CV24548	deletion	THPO, 1-BP DEL, 3252G	Thrombocythemia 1 [RCV000010117]	pathogenic				Human		name
150544416	CV1304800	single nucleotide variant	NM_000460.4(THPO):c.-7G>A	THPO-related disorder [RCV003976160]\|not provided [RCV001773048]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	184376266	184376266	Human		name , trait , alternate_id
8561089	CV24549	single nucleotide variant	NM_000460.4(THPO):c.-31G>T	Thrombocythemia 1 [RCV000010118]\|not provided [RCV003231097]	pathogenic\|likely pathogenic	3	184376290	184376290	Human	1	name
11593576	CV271109	single nucleotide variant	NM_000460.4(THPO):c.*18G>A	Thrombocythemia 1 [RCV000350145]\|not provided [RCV000343412]	likely benign\|uncertain significance	3	184372495	184372495	Human	1	name
11587501	CV289675	single nucleotide variant	NM_000460.4(THPO):c.*35G>A	Thrombocythemia 1 [RCV000295508]\|not provided [RCV001723942]	benign	3	184372478	184372478	Human	7	name
11597064	CV290426	single nucleotide variant	NM_000460.4(THPO):c.*59G>A	Thrombocythemia 1 [RCV000389806]\|not provided [RCV001709616]	benign\|likely benign	3	184372454	184372454	Human	11	name
11597064	CV290426	single nucleotide variant	NM_000460.4(THPO):c.*59G>A	Thrombocythemia 1 [RCV000389806]\|not provided [RCV001709616]	benign\|likely benign	3	184372454	184372455	Human	11	name
11597279	CV294064	single nucleotide variant	NM_000460.4(THPO):c.-56G>A	Thrombocythemia 1 [RCV000392557]\|Thrombocythemia 1 [RCV005398470]\|not provided [RCV004694730]	uncertain significance	3	184376315	184376315	Human	1	name
405264969	CV3190095	single nucleotide variant	NM_000460.4(THPO):c.-52C>T	THPO-related disorder [RCV003897134]	likely benign	3	184376311	184376311	Human		name , trait , alternate_id
597926085	CV3748860	single nucleotide variant	NM_000460.4(THPO):c.-47G>A	not provided [RCV005075316]	uncertain significance	3	184376306	184376306	Human		name
28881879	CV861070	deletion	NM_000460.4(THPO):c.-47del	Thrombocythemia 1 [RCV001093614]	pathogenic	3	184376306	184376306	Human	1	name
28879949	CV888490	single nucleotide variant	NM_000460.4(THPO):c.*27A>G	Thrombocythemia 1 [RCV001149144]	uncertain significance	3	184372486	184372486	Human	1	name
150334404	CV1164215	single nucleotide variant	NM_000460.4(THPO):c.-259G>A	THPO-related disorder [RCV003921187]\|not provided [RCV001724342]\|not specified [RCV001529599]	benign\|likely benign	3	184378188	184378188	Human		name , trait , alternate_id
150539135	CV1299943	single nucleotide variant	NM_000460.4(THPO):c.-126G>T	not provided [RCV001765413]	uncertain significance	3	184376385	184376385	Human		name
155643449	CV1706732	single nucleotide variant	NM_000460.4(THPO):c.-146G>A	See cases [RCV004584552]	uncertain significance	3	184378075	184378075	Human		name
8561087	CV24547	single nucleotide variant	NM_000460.4(THPO):c.13+1G>C	Thrombocythemia 1 [RCV000010116]\|not provided [RCV003487269]	pathogenic\|likely pathogenic	3	184376246	184376246	Human	1	name
11662211	CV290421	single nucleotide variant	NM_000460.4(THPO):c.*500A>G	Thrombocythemia 1 [RCV000384057]	uncertain significance	3	184372013	184372013	Human	1	name
11591112	CV290423	single nucleotide variant	NM_000460.4(THPO):c.*404G>A	Thrombocythemia 1 [RCV000325798]	uncertain significance	3	184372109	184372109	Human	1	name
11594307	CV290439	single nucleotide variant	NM_000460.4(THPO):c.-136T>C	Thrombocythemia 1 [RCV000357804]\|not provided [RCV004716055]	benign	3	184376395	184376395	Human	1	name
11584030	CV293516	single nucleotide variant	NM_000460.4(THPO):c.*482A>T	Thrombocythemia 1 [RCV000270769]\|not provided [RCV004716054]	benign\|likely benign	3	184372031	184372031	Human	4	name
11584030	CV293516	single nucleotide variant	NM_000460.4(THPO):c.*482A>T	Thrombocythemia 1 [RCV000270769]\|not provided [RCV004716054]	benign\|likely benign	3	184372031	184372032	Human	4	name
11588428	CV294090	single nucleotide variant	NM_000460.4(THPO):c.-123C>T	Thrombocythemia 1 [RCV000303054]	uncertain significance	3	184376382	184376382	Human	1	name
11646766	CV294091	single nucleotide variant	NM_000460.4(THPO):c.-215T>A	Thrombocythemia 1 [RCV000272559]	uncertain significance	3	184378144	184378144	Human	1	name
405271227	CV3202794	single nucleotide variant	NM_000460.4(THPO):c.-223G>A	THPO-related disorder [RCV003913862]	likely benign	3	184378152	184378152	Human		name , trait , alternate_id
405256244	CV3222447	single nucleotide variant	NM_000460.4(THPO):c.-324C>T	Amegakaryocytic thrombocytopenia, congenital, 2 [RCV003985945]	pathogenic	3	184378253	184378253	Human	1	name
408372604	CV3511486	single nucleotide variant	NM_000460.4(THPO):c.-119T>G	THPO-related disorder [RCV004743734]	uncertain significance	3	184376378	184376378	Human		name , trait , alternate_id
597867393	CV3794124	single nucleotide variant	NM_000460.4(THPO):c.13+1G>T	not provided [RCV005142490]	pathogenic	3	184376246	184376246	Human		name
28872568	CV888486	single nucleotide variant	NM_000460.4(THPO):c.*480G>A	Thrombocythemia 1 [RCV001146343]	uncertain significance	3	184372033	184372033	Human	1	name
28872571	CV888487	single nucleotide variant	NM_000460.4(THPO):c.*366G>C	Thrombocythemia 1 [RCV001146344]	uncertain significance	3	184372147	184372147	Human	1	name
28872576	CV888488	single nucleotide variant	NM_000460.4(THPO):c.*191T>G	Thrombocythemia 1 [RCV001146345]	uncertain significance	3	184372322	184372322	Human	1	name
28872580	CV888489	single nucleotide variant	NM_000460.4(THPO):c.*108C>T	Thrombocythemia 1 [RCV001146346]	uncertain significance	3	184372405	184372405	Human	1	name
38597113	CV964106	single nucleotide variant	NM_000460.4(THPO):c.13+2T>C	Thrombocythemia 1 [RCV001252954]	likely pathogenic	3	184376245	184376245	Human	1	name
405169833	CV3151576	single nucleotide variant	NM_000460.4(THPO):c.14-15C>T	not provided [RCV003857727]	likely benign	3	184376030	184376030	Human		name
597852513	CV3737647	single nucleotide variant	NM_000460.4(THPO):c.396+6T>G	not provided [RCV005066420]	uncertain significance	3	184373409	184373409	Human		name
597837891	CV3740243	single nucleotide variant	NM_000460.4(THPO):c.13+12C>T	not provided [RCV005064271]	likely benign	3	184376235	184376235	Human		name
597844891	CV3752679	single nucleotide variant	NM_000460.4(THPO):c.14-20C>T	not provided [RCV005087085]	likely benign	3	184376035	184376035	Human		name
597920992	CV3860051	single nucleotide variant	NM_000460.4(THPO):c.141+9T>C	not provided [RCV005195780]	likely benign	3	184375879	184375879	Human		name
15139265	CV759141	single nucleotide variant	NM_000460.4(THPO):c.13+10C>A	not provided [RCV000921475]	likely benign	3	184376237	184376237	Human		name
15111049	CV774949	single nucleotide variant	NM_000460.4(THPO):c.14-10C>T	not provided [RCV000938675]	likely benign	3	184376025	184376025	Human		name
28904633	CV891629	single nucleotide variant	NM_000460.4(THPO):c.14-11C>T	Thrombocythemia 1 [RCV001144551]	uncertain significance	3	184376026	184376026	Human	1	name
150472211	CV1252207	single nucleotide variant	NM_000460.4(THPO):c.396+54C>A	not provided [RCV001671408]	benign	3	184373361	184373361	Human		name
152026021	CV1540391	single nucleotide variant	NM_000460.4(THPO):c.142-19C>A	not provided [RCV002104412]	benign	3	184375620	184375620	Human		name
156379692	CV1964175	single nucleotide variant	NM_000460.4(THPO):c.228+14C>A	not provided [RCV002583081]	likely benign	3	184375501	184375501	Human		name
156250894	CV1984754	single nucleotide variant	NM_000460.4(THPO):c.142-20C>A	not provided [RCV002645893]	likely benign	3	184375621	184375621	Human		name
405082104	CV3137489	single nucleotide variant	NM_000460.4(THPO):c.396+20A>T	not provided [RCV003834198]	likely benign	3	184373395	184373395	Human		name
597880951	CV3808485	single nucleotide variant	NM_000460.4(THPO):c.228+16C>T	not provided [RCV005155999]	likely benign	3	184375499	184375499	Human		name
597922425	CV3858446	single nucleotide variant	NM_000460.4(THPO):c.229-10T>C	not provided [RCV005197189]	likely benign	3	184373592	184373592	Human		name
150420629	CV1179668	single nucleotide variant	NM_000460.4(THPO):c.142-115G>A	not provided [RCV001551639]	likely benign	3	184375716	184375716	Human	3	name
150420629	CV1179668	single nucleotide variant	NM_000460.4(THPO):c.142-115G>A	not provided [RCV001551639]	likely benign	3	184375716	184375717	Human	3	name
150499820	CV1209149	single nucleotide variant	NM_000460.4(THPO):c.229-127G>A	not provided [RCV001594367]	likely benign	3	184373709	184373709	Human	3	name
150502302	CV1223169	single nucleotide variant	NM_000460.4(THPO):c.229-156G>A	not provided [RCV001621102]	benign	3	184373738	184373738	Human		name
150503821	CV1240631	single nucleotide variant	NM_000460.4(THPO):c.228+197A>G	not provided [RCV001657474]	benign	3	184375318	184375318	Human		name
150494743	CV1241454	single nucleotide variant	NM_000460.4(THPO):c.228+263C>T	not provided [RCV001655461]	benign	3	184375252	184375252	Human	6	name
150465805	CV1255094	single nucleotide variant	NM_000460.4(THPO):c.142-138G>A	not provided [RCV001670267]	benign	3	184375739	184375739	Human		name
405854954	CV3393364	single nucleotide variant	NM_001289998.1(THPO):c.-334G>A	not provided [RCV004546094]	likely benign	3	184378263	184378263	Human		name
407480722	CV3415330	duplication	NM_000460.4(THPO):c.-64_-63dup	Thrombocytopenia 9 [RCV004596040]	likely pathogenic	3	184376321	184376322	Human	1	name
596938768	CV3543619	single nucleotide variant	NM_001289998.1(THPO):c.-302G>A	not provided [RCV004801741]	uncertain significance	3	184378231	184378231	Human		name
150427029	CV1186561	single nucleotide variant	NM_000460.4(THPO):c.-145-277G>A	not provided [RCV001560372]	likely benign	3	184376681	184376681	Human		name
150438508	CV1221171	single nucleotide variant	NM_000460.4(THPO):c.-145-309A>G	not provided [RCV001609865]	benign	3	184376713	184376713	Human		name
150555654	CV1304809	single nucleotide variant	NM_000460.4(THPO):c.9G>A (p.Leu3=)	not provided [RCV001773057]	conflicting interpretations of pathogenicity\|uncertain significance	3	184376251	184376251	Human		name
15160099	CV733942	single nucleotide variant	NM_000460.4(THPO):c.24C>T (p.Leu8=)	Thrombocythemia 1 [RCV001144550]\|not provided [RCV000903075]	benign\|likely benign	3	184376005	184376005	Human	1	name
156413093	CV1904726	single nucleotide variant	NM_000460.4(THPO):c.69G>A (p.Pro23=)	not provided [RCV002588049]	likely benign	3	184375960	184375960	Human		name
11544928	CV251050	duplication	NM_000460.4(THPO):c.229-17_229-14dup	Thrombocythemia 1 [RCV000343127]\|not provided [RCV001567825]\|not specified [RCV000244455]	benign\|likely benign	3	184373595	184373596	Human	1	name
405176776	CV3049365	single nucleotide variant	NM_000460.4(THPO):c.60G>A (p.Leu20=)	not provided [RCV003728354]	likely benign	3	184375969	184375969	Human		name
156400009	CV1897507	single nucleotide variant	NM_000460.4(THPO):c.246G>A (p.Gln82=)	not provided [RCV002584773]	likely benign	3	184373565	184373565	Human		name
155992501	CV1990573	single nucleotide variant	NM_000460.4(THPO):c.201T>C (p.Phe67=)	not provided [RCV002618082]	likely benign	3	184375542	184375542	Human		name
405254710	CV2985430	single nucleotide variant	NM_000460.4(THPO):c.261A>G (p.Ala87=)	not provided [RCV003723134]	likely benign	3	184373550	184373550	Human		name
13523356	CV489136	single nucleotide variant	NM_000460.4(THPO):c.183G>T (p.Leu61=)	Thrombocythemia 1 [RCV001144549]\|not provided [RCV000592889]	conflicting interpretations of pathogenicity\|uncertain significance	3	184375560	184375560	Human	1	name
38461768	CV918818	single nucleotide variant	NM_000460.4(THPO):c.13G>A (p.Glu5Lys)	Thrombocythemia 1 [RCV001197913]	uncertain significance	3	184376247	184376247	Human	1	name
126743877	CV1019794	single nucleotide variant	NM_000460.4(THPO):c.753C>T (p.His251=)	Inborn genetic diseases [RCV005283591]\|not provided [RCV005111082]	pathogenic\|likely benign	3	184372822	184372822	Human	1	name
150464195	CV1265629	deletion	NM_000460.4(THPO):c.114del (p.Asp39fs)	Thrombocytopenia [RCV001682626]	uncertain significance	3	184375915	184375915	Human	2	name
152095403	CV1661659	single nucleotide variant	NM_000460.4(THPO):c.816G>A (p.Pro272=)	not provided [RCV002172382]	benign	3	184372759	184372759	Human		name
155266080	CV1696190	single nucleotide variant	NM_000460.4(THPO):c.91C>T (p.Arg31Ter)	Thrombocytopenia 9 [RCV003325598]\|Thrombocytopenia [RCV002280964]	pathogenic\|likely pathogenic	3	184375938	184375938	Human	3	name
156139832	CV1921686	single nucleotide variant	NM_000460.4(THPO):c.933C>T (p.Pro311=)	not provided [RCV002623616]	likely benign	3	184372642	184372642	Human		name
156434498	CV1940061	single nucleotide variant	NM_000460.4(THPO):c.987T>C (p.Ala329=)	not provided [RCV003104476]	likely benign	3	184372588	184372588	Human		name
156340123	CV1984804	single nucleotide variant	NM_000460.4(THPO):c.624T>C (p.Thr208=)	not provided [RCV002631388]	likely benign	3	184372951	184372951	Human		name
156213172	CV1997235	single nucleotide variant	NM_000460.4(THPO):c.504G>T (p.Gly168=)	not provided [RCV002666921]	likely benign	3	184373071	184373071	Human		name
11641003	CV273416	single nucleotide variant	NM_000460.4(THPO):c.639T>A (p.Thr213=)	Inborn genetic diseases [RCV003298345]\|THPO-related disorder [RCV003920150]\|not provided [RCV000349247]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	184372936	184372936	Human	1	name , trait , alternate_id
401864785	CV2778044	single nucleotide variant	NM_000460.4(THPO):c.918C>T (p.Leu306=)	Inborn genetic diseases [RCV003359475]	likely benign	3	184372657	184372657	Human	1	name
405217811	CV2873572	single nucleotide variant	NM_000460.4(THPO):c.444C>A (p.Ile148=)	not provided [RCV003553449]	likely benign	3	184373131	184373131	Human		name
11587764	CV290438	single nucleotide variant	NM_000460.4(THPO):c.303A>G (p.Gln101=)	Thrombocythemia 1 [RCV000297703]	uncertain significance	3	184373508	184373508	Human	1	name
405100354	CV2938102	single nucleotide variant	NM_000460.4(THPO):c.894T>C (p.His298=)	not provided [RCV003665800]	likely benign	3	184372681	184372681	Human		name
405072430	CV2940972	single nucleotide variant	NM_000460.4(THPO):c.732C>T (p.Pro244=)	not provided [RCV003663958]	likely benign	3	184372843	184372843	Human		name
405089289	CV3044656	single nucleotide variant	NM_000460.4(THPO):c.765T>C (p.Asn255=)	Inborn genetic diseases [RCV005291018]\|not provided [RCV003717702]	likely benign	3	184372810	184372810	Human	1	name
405083912	CV3046933	single nucleotide variant	NM_000460.4(THPO):c.336G>A (p.Gly112=)	not provided [RCV003717282]	likely benign	3	184373475	184373475	Human		name
405093267	CV3118881	single nucleotide variant	NM_000460.4(THPO):c.61T>C (p.Ser21Pro)	not provided [RCV003811332]	uncertain significance	3	184375968	184375968	Human		name
405750470	CV3335545	single nucleotide variant	NM_000460.4(THPO):c.519C>G (p.Val173=)	Inborn genetic diseases [RCV004466963]	likely benign	3	184373056	184373056	Human	1	name
405750466	CV3335546	single nucleotide variant	NM_000460.4(THPO):c.597T>C (p.Thr199=)	Inborn genetic diseases [RCV004466964]	likely benign	3	184372978	184372978	Human	1	name
407520156	CV3478972	single nucleotide variant	NM_000460.4(THPO):c.468C>G (p.Leu156=)	Inborn genetic diseases [RCV004676859]	likely benign	3	184373107	184373107	Human	1	name
408372705	CV3512303	single nucleotide variant	NM_000460.4(THPO):c.942C>T (p.Pro314=)	Inborn genetic diseases [RCV005281555]\|THPO-related disorder [RCV004743839]	likely benign	3	184372633	184372633	Human	1	name , trait , alternate_id
597641924	CV3613109	single nucleotide variant	NM_000460.4(THPO):c.531A>C (p.Pro177=)	Inborn genetic diseases [RCV004971824]\|Thrombocythemia 1 [RCV005392918]	likely benign\|uncertain significance	3	184373044	184373044	Human	2	name
597641934	CV3613111	single nucleotide variant	NM_000460.4(THPO):c.68C>A (p.Pro23Gln)	Inborn genetic diseases [RCV004971826]	uncertain significance	3	184375961	184375961	Human	1	name
597872713	CV3747208	single nucleotide variant	NM_000460.4(THPO):c.915G>A (p.Thr305=)	not provided [RCV005068892]	likely benign	3	184372660	184372660	Human		name
597934769	CV3750446	single nucleotide variant	NM_000460.4(THPO):c.495T>C (p.Leu165=)	not provided [RCV005076371]	likely benign	3	184373080	184373080	Human		name
597837995	CV3763399	single nucleotide variant	NM_000460.4(THPO):c.387T>C (p.Leu129=)	not provided [RCV005110979]	likely benign	3	184373424	184373424	Human		name
597869354	CV3798531	single nucleotide variant	NM_000460.4(THPO):c.912T>C (p.Tyr304=)	not provided [RCV005144119]	likely benign	3	184372663	184372663	Human		name
597868786	CV3801710	single nucleotide variant	NM_000460.4(THPO):c.312C>T (p.Pro104=)	not provided [RCV005143699]	likely benign	3	184373499	184373499	Human		name
597899345	CV3821642	single nucleotide variant	NM_000460.4(THPO):c.999C>T (p.Thr333=)	not provided [RCV005174120]	likely benign	3	184372576	184372576	Human		name
15118119	CV733941	single nucleotide variant	NM_000460.4(THPO):c.993G>A (p.Thr331=)	not provided [RCV000895494]	likely benign	3	184372582	184372582	Human		name
15157021	CV748139	single nucleotide variant	NM_000460.4(THPO):c.516C>T (p.Cys172=)	not provided [RCV000924779]	likely benign	3	184373059	184373059	Human		name
15133756	CV763773	single nucleotide variant	NM_000460.4(THPO):c.579C>T (p.Asn193=)	Thrombocythemia 1 [RCV001150650]\|not provided [RCV000942623]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	184372996	184372996	Human	1	name
28879952	CV888491	single nucleotide variant	NM_000460.4(THPO):c.963C>T (p.His321=)	Inborn genetic diseases [RCV005286317]\|THPO-related disorder [RCV003938515]\|Thrombocythemia 1 [RCV001149145]\|not provided [RCV005093644]	likely benign\|uncertain significance	3	184372612	184372612	Human	2	name , trait , alternate_id
28879959	CV888492	single nucleotide variant	NM_000460.4(THPO):c.852G>A (p.Leu284=)	Thrombocythemia 1 [RCV001149146]\|not provided [RCV003574845]	benign\|likely benign	3	184372723	184372723	Human	1	name
150333829	CV1174956	single nucleotide variant	NM_000460.4(THPO):c.233A>G (p.Glu78Gly)	Thrombocythemia 1 [RCV001543677]	uncertain significance	3	184373578	184373578	Human	1	name
152137621	CV1581487	single nucleotide variant	NM_000460.4(THPO):c.1032C>T (p.Thr344=)	not provided [RCV002100330]	likely benign	3	184372543	184372543	Human		name
152981056	CV1676334	deletion	NM_000460.4(THPO):c.825del (p.Ser276fs)	Thrombocytopenia [RCV002245411]	pathogenic	3	184372750	184372750	Human	2	name
155945844	CV2130222	single nucleotide variant	NM_000460.4(THPO):c.295C>T (p.Arg99Trp)	Amegakaryocytic thrombocytopenia, congenital, 2 [RCV003325439]\|Thrombocytopenia 9 [RCV003324718]\|not provided [RCV002971575]	pathogenic	3	184373516	184373516	Human	2	name
156115830	CV2136438	single nucleotide variant	NM_000460.4(THPO):c.124G>A (p.Val42Ile)	not provided [RCV003002779]	uncertain significance	3	184375905	184375905	Human		name
156174396	CV2334531	single nucleotide variant	NM_000460.4(THPO):c.287T>C (p.Met96Thr)	Inborn genetic diseases [RCV002956027]	uncertain significance	3	184373524	184373524	Human	1	name
405270855	CV3190133	single nucleotide variant	NM_001290003.1(THPO):c.4G>A (p.Asp2Asn)	THPO-related disorder [RCV003894536]	uncertain significance	3	184378346	184378346	Human		name , trait , alternate_id
407498176	CV3478971	single nucleotide variant	NM_000460.4(THPO):c.290C>T (p.Ala97Val)	Inborn genetic diseases [RCV004668592]	uncertain significance	3	184373521	184373521	Human	1	name
408381090	CV3501392	deletion	NM_000460.4(THPO):c.754del (p.Glu252fs)	not provided [RCV004727481]	likely pathogenic	3	184372821	184372821	Human		name
408382161	CV3526713	single nucleotide variant	NM_000460.4(THPO):c.194T>C (p.Val65Ala)	not provided [RCV004772026]	uncertain significance	3	184375549	184375549	Human		name
596930127	CV3538699	single nucleotide variant	NM_000460.4(THPO):c.281G>A (p.Gly94Glu)	not provided [RCV004792168]	uncertain significance	3	184373530	184373530	Human		name
596928238	CV3540153	duplication	NM_000460.4(THPO):c.530dup (p.Pro178fs)	not provided [RCV004791145]	likely pathogenic	3	184373044	184373045	Human		name
12742874	CV359530	single nucleotide variant	NM_000460.4(THPO):c.247G>A (p.Asp83Asn)	not provided [RCV000414736]	likely pathogenic	3	184373564	184373564	Human		name
597719480	CV3733514	single nucleotide variant	NM_000460.4(THPO):c.209G>C (p.Gly70Ala)	not provided [RCV005052704]	uncertain significance	3	184375534	184375534	Human		name
597872211	CV3747135	single nucleotide variant	NM_000460.4(THPO):c.245A>G (p.Gln82Arg)	not provided [RCV005068819]	uncertain significance	3	184373566	184373566	Human		name
597968514	CV3761108	single nucleotide variant	NM_000460.4(THPO):c.296G>A (p.Arg99Gln)	not provided [RCV005083495]	uncertain significance	3	184373515	184373515	Human		name
597853651	CV3781670	single nucleotide variant	NM_000460.4(THPO):c.198C>G (p.Asp66Glu)	not provided [RCV005128358]	uncertain significance	3	184375545	184375545	Human		name
597859613	CV3786376	single nucleotide variant	NM_000460.4(THPO):c.247G>C (p.Asp83His)	not provided [RCV005134067]	uncertain significance	3	184373564	184373564	Human		name
597869738	CV3799080	single nucleotide variant	NM_000460.4(THPO):c.148T>C (p.Cys50Arg)	not provided [RCV005144476]	uncertain significance	3	184375595	184375595	Human		name
598185330	CV3913618	single nucleotide variant	NM_000460.4(THPO):c.226A>T (p.Met76Leu)	Inborn genetic diseases [RCV005287415]	uncertain significance	3	184375517	184375517	Human	1	name
13530340	CV511475	single nucleotide variant	NM_000460.4(THPO):c.112C>T (p.Arg38Cys)	Amegakaryocytic thrombocytopenia, congenital, 2 [RCV003325501]\|Inborn genetic diseases [RCV000622434]	pathogenic\|likely pathogenic	3	184375917	184375917	Human	2	name
14975971	CV615337	duplication	NM_000460.4(THPO):c.805dup (p.Leu269fs)	Macrothrombocytopenia [RCV000852224]\|Thrombocytopenia 9 [RCV003324716]	pathogenic\|uncertain significance	3	184372769	184372770	Human	2	name
14975915	CV615338	duplication	NM_000460.4(THPO):c.610dup (p.Glu204fs)	Abnormal bleeding [RCV001270510]\|Macrothrombocytopenia [RCV000852174]\|Thrombocytopenia 9 [RCV003324715]	pathogenic\|uncertain significance	3	184372964	184372965	Human	6	name
126911553	CV1037341	single nucleotide variant	NM_000460.4(THPO):c.649G>A (p.Gly217Arg)	Inborn genetic diseases [RCV002547611]\|not provided [RCV001355489]	uncertain significance	3	184372926	184372926	Human	1	name
150529254	CV1288808	single nucleotide variant	NM_000460.4(THPO):c.469C>T (p.Arg157Ter)	Amegakaryocytic thrombocytopenia, congenital, 2 [RCV003325579]\|Thrombocytopenia [RCV003314013]\|not provided [RCV001727276]	pathogenic	3	184373106	184373106	Human	3	name
150549911	CV1299944	single nucleotide variant	NM_000460.4(THPO):c.355C>G (p.Arg119Gly)	not provided [RCV001765414]	uncertain significance	3	184373456	184373456	Human		name
150552516	CV1301502	single nucleotide variant	NM_000460.4(THPO):c.307G>A (p.Gly103Arg)	not provided [RCV001767912]	uncertain significance	3	184373504	184373504	Human		name
151794585	CV1392989	single nucleotide variant	NM_000460.4(THPO):c.524G>A (p.Arg175Gln)	not provided [RCV001952363]	uncertain significance	3	184373051	184373051	Human		name
151824981	CV1404163	single nucleotide variant	NM_000460.4(THPO):c.832A>G (p.Thr278Ala)	not provided [RCV001976100]	uncertain significance	3	184372743	184372743	Human		name
156254608	CV1884200	single nucleotide variant	NM_000460.4(THPO):c.957G>C (p.Gln319His)	Inborn genetic diseases [RCV003086230]\|not provided [RCV003087651]\|not specified [RCV003491236]	uncertain significance	3	184372618	184372618	Human	1	name
156377182	CV1896265	single nucleotide variant	NM_000460.4(THPO):c.953T>C (p.Val318Ala)	not provided [RCV003092971]	uncertain significance	3	184372622	184372622	Human		name
156091900	CV1919779	single nucleotide variant	NM_000460.4(THPO):c.347G>T (p.Gly116Val)	not provided [RCV002591942]	uncertain significance	3	184373464	184373464	Human		name
156447168	CV1944809	single nucleotide variant	NM_000460.4(THPO):c.723C>G (p.Asp241Glu)	not provided [RCV003118695]	uncertain significance	3	184372852	184372852	Human		name
10052443	CV194832	single nucleotide variant	NM_000460.4(THPO):c.356G>A (p.Arg119His)	Inborn genetic diseases [RCV002516780]\|Thrombocythemia 1 [RCV001150651]\|not provided [RCV000178771]	likely benign\|uncertain significance	3	184373455	184373455	Human	2	name
156380083	CV1968490	single nucleotide variant	NM_000460.4(THPO):c.815C>T (p.Pro272Leu)	not provided [RCV002603903]	uncertain significance	3	184372760	184372760	Human		name
156289350	CV2001637	single nucleotide variant	NM_000460.4(THPO):c.470G>A (p.Arg157Gln)	not provided [RCV002670703]	uncertain significance	3	184373105	184373105	Human		name
155949172	CV2132976	single nucleotide variant	NM_000460.4(THPO):c.753C>G (p.His251Gln)	not provided [RCV002994528]	uncertain significance	3	184372822	184372822	Human		name
155961151	CV2138386	single nucleotide variant	NM_000460.4(THPO):c.589A>G (p.Asn197Asp)	not provided [RCV002972391]	uncertain significance	3	184372986	184372986	Human		name
156352909	CV2190517	single nucleotide variant	NM_000460.4(THPO):c.973C>T (p.Pro325Ser)	not provided [RCV003048470]	uncertain significance	3	184372602	184372602	Human		name
156388095	CV2221714	single nucleotide variant	NM_000460.4(THPO):c.998C>G (p.Thr333Ser)	Inborn genetic diseases [RCV002724039]	uncertain significance	3	184372577	184372577	Human	1	name
155937590	CV2373709	single nucleotide variant	NM_000460.4(THPO):c.641C>A (p.Thr214Asn)	Inborn genetic diseases [RCV002729707]\|not provided [RCV003778577]	uncertain significance	3	184372934	184372934	Human	1	name
243051304	CV2415754	single nucleotide variant	NM_000460.4(THPO):c.482G>A (p.Arg161His)	Thrombocythemia 1 [RCV003148363]	uncertain significance	3	184373093	184373093	Human	1	name
243050214	CV2417356	single nucleotide variant	NM_000460.4(THPO):c.860A>G (p.Asn287Ser)	not provided [RCV003152228]	uncertain significance	3	184372715	184372715	Human		name
11637951	CV265663	single nucleotide variant	NM_000460.4(THPO):c.518T>C (p.Val173Ala)	Thrombocythemia 1 [RCV001332471]\|not provided [RCV000294778]	uncertain significance	3	184373057	184373057	Human	1	name
329953173	CV2669885	single nucleotide variant	NM_000460.4(THPO):c.355C>T (p.Arg119Cys)	Amegakaryocytic thrombocytopenia, congenital, 2 [RCV003325623]\|not provided [RCV003234509]	pathogenic\|likely pathogenic	3	184373456	184373456	Human	1	name
401882552	CV2778416	single nucleotide variant	NM_000460.4(THPO):c.515G>A (p.Cys172Tyr)	Inborn genetic diseases [RCV003350471]	uncertain significance	3	184373060	184373060	Human	1	name
401911256	CV2800240	single nucleotide variant	NM_000460.4(THPO):c.983C>A (p.Ser328Tyr)	THPO-related disorder [RCV003399479]\|not provided [RCV005061376]	uncertain significance	3	184372592	184372592	Human		name , trait , alternate_id
405204021	CV2858487	single nucleotide variant	NM_000460.4(THPO):c.704A>G (p.Gln235Arg)	not provided [RCV003551711]	uncertain significance	3	184372871	184372871	Human		name
11597280	CV290431	single nucleotide variant	NM_000460.4(THPO):c.517G>A (p.Val173Ile)	Inborn genetic diseases [RCV002520117]\|Thrombocythemia 1 [RCV000392561]\|not provided [RCV003765990]	uncertain significance	3	184373058	184373058	Human	2	name
402497828	CV2906130	single nucleotide variant	NM_000460.4(THPO):c.992C>A (p.Thr331Lys)	Inborn genetic diseases [RCV004963722]\|not provided [RCV003573683]	uncertain significance	3	184372583	184372583	Human	1	name
11585625	CV293520	single nucleotide variant	NM_000460.4(THPO):c.889A>G (p.Thr297Ala)	Inborn genetic diseases [RCV003278779]\|Thrombocythemia 1 [RCV000282200]\|Thrombocythemia 1 [RCV005033877]\|not provided [RCV002520116]	likely benign\|uncertain significance	3	184372686	184372686	Human	2	name
11656909	CV293523	single nucleotide variant	NM_000460.4(THPO):c.671G>A (p.Gly224Glu)	Thrombocythemia 1 [RCV000337195]	uncertain significance	3	184372904	184372904	Human	1	name
405079572	CV2945485	single nucleotide variant	NM_000460.4(THPO):c.916C>A (p.Leu306Ile)	not provided [RCV003664488]	uncertain significance	3	184372659	184372659	Human		name
405222936	CV3038730	single nucleotide variant	NM_000460.4(THPO):c.685A>G (p.Ile229Val)	not provided [RCV003710146]	uncertain significance	3	184372890	184372890	Human		name
405203142	CV3052847	single nucleotide variant	NM_000460.4(THPO):c.523C>T (p.Arg175Trp)	Inborn genetic diseases [RCV004673954]\|THPO-related disorder [RCV004741692]\|not provided [RCV003730992]	uncertain significance	3	184373052	184373052	Human	1	name , trait , alternate_id
405047466	CV3071808	single nucleotide variant	NM_000460.4(THPO):c.680C>T (p.Ala227Val)	not provided [RCV003740357]	uncertain significance	3	184372895	184372895	Human		name
405028844	CV3076394	single nucleotide variant	NM_000460.4(THPO):c.301C>A (p.Gln101Lys)	not provided [RCV003738990]	uncertain significance	3	184373510	184373510	Human		name
404980669	CV3120983	single nucleotide variant	NM_000460.4(THPO):c.478G>A (p.Val160Met)	not provided [RCV003825975]	uncertain significance	3	184373097	184373097	Human		name
405056126	CV3138627	single nucleotide variant	NM_000460.4(THPO):c.350A>G (p.Gln117Arg)	Inborn genetic diseases [RCV004366907]\|not provided [RCV003832472]	uncertain significance	3	184373461	184373461	Human	1	name
405073210	CV3140414	single nucleotide variant	NM_000460.4(THPO):c.339G>C (p.Gln113His)	not provided [RCV003833569]	uncertain significance	3	184373472	184373472	Human		name
405221473	CV3157908	single nucleotide variant	NM_000460.4(THPO):c.505T>C (p.Ser169Pro)	not provided [RCV003863600]	uncertain significance	3	184373070	184373070	Human		name
405750458	CV3335547	single nucleotide variant	NM_000460.4(THPO):c.606G>T (p.Leu202Phe)	Inborn genetic diseases [RCV004466965]	uncertain significance	3	184372969	184372969	Human	1	name
405750451	CV3335548	single nucleotide variant	NM_000460.4(THPO):c.994C>T (p.Pro332Ser)	Inborn genetic diseases [RCV004466966]	uncertain significance	3	184372581	184372581	Human	1	name
407427171	CV3410508	single nucleotide variant	NM_000460.4(THPO):c.359T>C (p.Leu120Pro)	not provided [RCV004791695]\|not specified [RCV004586155]	uncertain significance	3	184373452	184373452	Human		name
407520158	CV3478973	single nucleotide variant	NM_000460.4(THPO):c.788G>A (p.Gly263Glu)	Inborn genetic diseases [RCV004676860]\|not provided [RCV005059739]	uncertain significance	3	184372787	184372787	Human	1	name
408384079	CV3520023	single nucleotide variant	NM_000460.4(THPO):c.684G>C (p.Lys228Asn)	not provided [RCV004759844]	uncertain significance	3	184372891	184372891	Human		name
596930122	CV3538697	single nucleotide variant	NM_000460.4(THPO):c.380G>A (p.Ser127Asn)	not provided [RCV004792166]	uncertain significance	3	184373431	184373431	Human		name
597641914	CV3613107	single nucleotide variant	NM_000460.4(THPO):c.797G>A (p.Arg266His)	Inborn genetic diseases [RCV004971822]	uncertain significance	3	184372778	184372778	Human	1	name
597641919	CV3613108	single nucleotide variant	NM_000460.4(THPO):c.527C>G (p.Ala176Gly)	Inborn genetic diseases [RCV004971823]	uncertain significance	3	184373048	184373048	Human	1	name
597641939	CV3613112	single nucleotide variant	NM_000460.4(THPO):c.469C>G (p.Arg157Gly)	Inborn genetic diseases [RCV004971827]	uncertain significance	3	184373106	184373106	Human	1	name
597641941	CV3613113	single nucleotide variant	NM_000460.4(THPO):c.611A>G (p.Glu204Gly)	Inborn genetic diseases [RCV004971828]	uncertain significance	3	184372964	184372964	Human	1	name
597716253	CV3717392	single nucleotide variant	NM_000460.4(THPO):c.877T>C (p.Ser293Pro)	Thrombocythemia 1 [RCV005035281]	uncertain significance	3	184372698	184372698	Human	1	name
597716262	CV3717393	single nucleotide variant	NM_000460.4(THPO):c.716C>T (p.Ser239Phe)	Thrombocythemia 1 [RCV005035282]\|not provided [RCV005063270]	uncertain significance	3	184372859	184372859	Human	1	name
597838798	CV3736896	single nucleotide variant	NM_000460.4(THPO):c.818A>G (p.Asp273Gly)	not provided [RCV005064376]	uncertain significance	3	184372757	184372757	Human		name
597858602	CV3788298	single nucleotide variant	NM_000460.4(THPO):c.729C>G (p.Ile243Met)	not provided [RCV005132973]	uncertain significance	3	184372846	184372846	Human		name
597858613	CV3788299	single nucleotide variant	NM_000460.4(THPO):c.694C>G (p.Leu232Val)	not provided [RCV005132974]	uncertain significance	3	184372881	184372881	Human		name
597856842	CV3788834	single nucleotide variant	NM_000460.4(THPO):c.640A>C (p.Thr214Pro)	not provided [RCV005131313]	uncertain significance	3	184372935	184372935	Human		name
597876134	CV3804975	single nucleotide variant	NM_000460.4(THPO):c.611A>T (p.Glu204Val)	not provided [RCV005151237]	uncertain significance	3	184372964	184372964	Human		name
597885729	CV3818506	single nucleotide variant	NM_000460.4(THPO):c.964C>T (p.Pro322Ser)	not provided [RCV005160767]	uncertain significance	3	184372611	184372611	Human		name
597892958	CV3820103	single nucleotide variant	NM_000460.4(THPO):c.370G>A (p.Ala124Thr)	not provided [RCV005167817]	uncertain significance	3	184373441	184373441	Human		name
597881898	CV3826922	single nucleotide variant	NM_000460.4(THPO):c.719T>C (p.Leu240Pro)	not provided [RCV005156935]	uncertain significance	3	184372856	184372856	Human		name
597909080	CV3842635	single nucleotide variant	NM_000460.4(THPO):c.550A>G (p.Ser184Gly)	not provided [RCV005184120]	uncertain significance	3	184373025	184373025	Human		name
597917163	CV3849074	single nucleotide variant	NM_000460.4(THPO):c.753C>A (p.His251Gln)	not provided [RCV005192075]	uncertain significance	3	184372822	184372822	Human		name
598179078	CV4008537	single nucleotide variant	NM_000460.4(THPO):c.428A>G (p.Lys143Arg)	Thrombocythemia 1 [RCV005394056]	uncertain significance	3	184373147	184373147	Human	1	name
617149824	CV4017335	single nucleotide variant	NM_000460.4(THPO):c.740T>A (p.Leu247Gln)	not provided [RCV005416992]	uncertain significance	3	184372835	184372835	Human		name
13832933	CV584159	single nucleotide variant	NM_000460.4(THPO):c.773G>A (p.Arg258His)	not provided [RCV000728041]	uncertain significance	3	184372802	184372802	Human		name
28884749	CV888493	single nucleotide variant	NM_000460.4(THPO):c.808G>A (p.Gly270Arg)	Thrombocythemia 1 [RCV001150647]\|not provided [RCV003433042]	uncertain significance	3	184372767	184372767	Human	1	name
28884755	CV888494	single nucleotide variant	NM_000460.4(THPO):c.796C>T (p.Arg266Cys)	Thrombocythemia 1 [RCV001150648]\|not provided [RCV001726436]	uncertain significance	3	184372779	184372779	Human	1	name
28884760	CV888495	single nucleotide variant	NM_000460.4(THPO):c.740T>C (p.Leu247Pro)	Thrombocythemia 1 [RCV001150649]	uncertain significance	3	184372835	184372835	Human	1	name
28884769	CV888496	single nucleotide variant	NM_000460.4(THPO):c.310C>A (p.Pro104Thr)	Thrombocythemia 1 [RCV001150652]\|not provided [RCV003546657]	likely benign\|uncertain significance	3	184373501	184373501	Human	1	name
11551145	CV251049	single nucleotide variant	NM_000460.4(THPO):c.1030A>G (p.Thr344Ala)	Thrombocythemia 1 [RCV000386051]\|not provided [RCV000955325]\|not specified [RCV000252667]	benign\|likely benign	3	184372545	184372545	Human	1	name
405181676	CV2909463	single nucleotide variant	NM_000460.4(THPO):c.1048T>C (p.Ser350Pro)	not provided [RCV003564034]	uncertain significance	3	184372527	184372527	Human		name
596930117	CV3538695	single nucleotide variant	NM_000460.4(THPO):c.1054G>A (p.Glu352Lys)	not provided [RCV004792164]	uncertain significance	3	184372521	184372521	Human		name
597871720	CV3817182	indel	NM_000460.4(THPO):c.396+15_396+16delinsTG	not provided [RCV005146563]	uncertain significance	3	184373399	184373400	Human		name
21072296	CV788762	single nucleotide variant	NM_001290003.1(THPO):c.98C>T (p.Pro33Leu)	Amegakaryocytic thrombocytopenia, congenital, 2 [RCV003324805]\|Thrombocythemia 1 [RCV000985234]	pathogenic\|uncertain significance	3	184378252	184378252	Human	2	name
596928243	CV3540154	deletion	NM_000460.4(THPO):c.262_265del (p.Val88fs)	not provided [RCV004791146]	likely pathogenic	3	184373546	184373549	Human		name
14693714	CV620123	deletion	NM_000460.4(THPO):c.791_794del (p.Pro264fs)	not provided [RCV003718288]	uncertain significance	3	184372781	184372784	Human		name
596930125	CV3538698	indel	NM_000460.4(THPO):c.317_318delinsTT (p.Cys106Phe)	not provided [RCV004792167]	uncertain significance	3	184373493	184373494	Human		name
405253926	CV3045136	duplication	NM_000460.4(THPO):c.617_619dup (p.Asn206_Phe207insTyr)	not provided [RCV003722761]	uncertain significance	3	184372955	184372956	Human		name

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