Dnmt3a Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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988 records found for search term Dnmt3a

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
13517946	CV488183	variation	DNMT3A, ARG822CYS	Acute myeloid leukemia [RCV000590990]\|Tatton-Brown-rahman syndrome [RCV000590987]	pathogenic				Human		name
150473826	CV1281607	single nucleotide variant	NM_022552.5(DNMT3A):c.-6G>A	not provided [RCV001713593]	benign\|likely benign	2	25313990	25313990	Human		name
405276217	CV3193288	single nucleotide variant	NM_022552.5(DNMT3A):c.-4C>T	DNMT3A-related disorder [RCV003974455]\|not provided [RCV005220812]	likely benign\|uncertain significance	2	25313988	25313988	Human		name , trait , alternate_id
405273081	CV3197647	single nucleotide variant	NM_022552.5(DNMT3A):c.-9G>A	DNMT3A-related disorder [RCV003901615]	likely benign	2	25313993	25313993	Human		name , trait , alternate_id
405266853	CV3220166	single nucleotide variant	NM_022552.5(DNMT3A):c.-7C>T	DNMT3A-related disorder [RCV003969429]	likely benign	2	25313991	25313991	Human		name , trait , alternate_id
405149427	CV2877237	single nucleotide variant	NM_022552.5(DNMT3A):c.73-8G>T	Tatton-Brown-Rahman overgrowth syndrome [RCV003585516]	likely benign	2	25300251	25300251	Human	1	name
597893193	CV3785407	single nucleotide variant	NM_022552.5(DNMT3A):c.72+4A>G	Tatton-Brown-Rahman overgrowth syndrome [RCV005125993]	uncertain significance	2	25313909	25313909	Human	1	name
13216419	CV428051	single nucleotide variant	NM_022552.5(DNMT3A):c.72+9C>T	DNMT3A-related disorder [RCV003935283]\|Tatton-Brown-Rahman overgrowth syndrome [RCV000964665]\|not specified [RCV000503737]	likely benign	2	25313904	25313904	Human	1	name , trait , alternate_id
15141946	CV695137	single nucleotide variant	NM_175629.2(DNMT3A):c.-786T>C	Tatton-Brown-Rahman overgrowth syndrome [RCV001521676]	benign	2	25343038	25343038	Human	1	name
150485240	CV1222665	single nucleotide variant	NM_022552.5(DNMT3A):c.73-84A>G	not provided [RCV001617668]	benign	2	25300327	25300327	Human		name
150468738	CV1257094	single nucleotide variant	NM_022552.5(DNMT3A):c.639+6G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV003746595]\|not provided [RCV001670740]	benign\|likely benign	2	25274935	25274935	Human	1	name
150453399	CV1275435	single nucleotide variant	NM_022552.5(DNMT3A):c.855+1G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV001706950]	likely pathogenic	2	25248036	25248036	Human	1	name
150535850	CV1307137	single nucleotide variant	NM_022552.5(DNMT3A):c.178-9C>G	not provided [RCV001759192]	uncertain significance	2	25282720	25282720	Human		name
152102573	CV1523922	single nucleotide variant	NM_022552.5(DNMT3A):c.73-18C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV002133451]	likely benign	2	25300261	25300261	Human	1	name
156050530	CV2091412	single nucleotide variant	NM_022552.5(DNMT3A):c.855+7G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV002886146]	likely benign	2	25248030	25248030	Human	1	name
156318996	CV2155247	single nucleotide variant	NM_022552.5(DNMT3A):c.72+10G>C	Tatton-Brown-Rahman overgrowth syndrome [RCV003011567]	likely benign	2	25313903	25313903	Human	1	name
401937485	CV2815588	single nucleotide variant	NM_022552.5(DNMT3A):c.448+8C>G	not provided [RCV003415520]	uncertain significance	2	25282433	25282433	Human		name
405150120	CV2869337	single nucleotide variant	NM_022552.5(DNMT3A):c.639+7C>T	DNMT3A-related disorder [RCV003966484]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003585577]	likely benign	2	25274934	25274934	Human	1	name , trait , alternate_id
405249104	CV2972500	single nucleotide variant	NM_022552.5(DNMT3A):c.640-5C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV003746990]	likely benign	2	25248257	25248257	Human	1	name
405249879	CV2993153	single nucleotide variant	NM_022552.5(DNMT3A):c.856-7G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV003747313]	likely benign	2	25247756	25247756	Human	1	name
405247452	CV3049895	single nucleotide variant	NM_022552.5(DNMT3A):c.855+6C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV003746376]	uncertain significance	2	25248031	25248031	Human	1	name
405270094	CV3198040	single nucleotide variant	NM_022552.5(DNMT3A):c.178-9C>T	DNMT3A-related disorder [RCV003899850]	likely benign	2	25282720	25282720	Human		name , trait , alternate_id
407457511	CV3416178	single nucleotide variant	NM_022552.5(DNMT3A):c.449-4A>G	not provided [RCV004599056]	uncertain significance	2	25275547	25275547	Human		name
408373880	CV3513257	single nucleotide variant	NM_022552.5(DNMT3A):c.178-6T>G	DNMT3A-related disorder [RCV004745813]	likely benign	2	25282717	25282717	Human		name , trait , alternate_id
408374009	CV3513919	single nucleotide variant	NM_022552.5(DNMT3A):c.639+3G>A	DNMT3A-related disorder [RCV004745905]	likely benign	2	25274938	25274938	Human		name , trait , alternate_id
408374334	CV3515582	single nucleotide variant	NM_022552.5(DNMT3A):c.177+7G>T	DNMT3A-related disorder [RCV004746651]	likely benign	2	25300132	25300132	Human		name , trait , alternate_id
597899616	CV3854698	single nucleotide variant	NM_022552.5(DNMT3A):c.856-4C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV005201806]	likely benign	2	25247753	25247753	Human	1	name
598126258	CV3881839	single nucleotide variant	NM_022552.5(DNMT3A):c.639+5G>A	not provided [RCV005233391]	uncertain significance	2	25274936	25274936	Human		name
598218782	CV3895558	single nucleotide variant	NM_022552.5(DNMT3A):c.855+2T>C	Acute myeloid leukemia [RCV005360410]	uncertain significance	2	25248035	25248035	Human	2	name
13624532	CV518001	single nucleotide variant	NM_022552.5(DNMT3A):c.72+10G>A	DNMT3A-related disorder [RCV003928131]\|Tatton-Brown-Rahman overgrowth syndrome [RCV000652292]\|not specified [RCV001816636]	benign\|likely benign	2	25313903	25313903	Human	1	name , trait , alternate_id
14736134	CV650948	single nucleotide variant	NM_022552.5(DNMT3A):c.639+6G>C	DNMT3A-related disorder [RCV003928284]\|Tatton-Brown-Rahman overgrowth syndrome [RCV000819867]\|not provided [RCV001776038]	likely benign\|uncertain significance	2	25274935	25274935	Human	1	name , trait , alternate_id
15115800	CV743919	single nucleotide variant	NM_022552.5(DNMT3A):c.448+7C>T	DNMT3A-related disorder [RCV003950451]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003584776]	likely benign\|uncertain significance	2	25282434	25282434	Human	1	name , trait , alternate_id
40889710	CV975035	single nucleotide variant	NM_022552.5(DNMT3A):c.448+1G>A	not provided [RCV001268146]	likely pathogenic	2	25282440	25282440	Human		name
127235378	CV1059270	single nucleotide variant	NM_022552.5(DNMT3A):c.856-10G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV001382387]	pathogenic	2	25247759	25247759	Human	1	name
127318491	CV1154098	single nucleotide variant	NM_022552.5(DNMT3A):c.1122+7G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV001521674]\|not provided [RCV001725222]	benign	2	25247044	25247044	Human	1	name
150422328	CV1179502	single nucleotide variant	NM_022552.5(DNMT3A):c.492+55G>C	not provided [RCV001552507]	likely benign	2	25275445	25275445	Human		name
150429467	CV1189194	single nucleotide variant	NM_022552.5(DNMT3A):c.1851+3G>C	Tatton-Brown-Rahman overgrowth syndrome [RCV001563649]	likely pathogenic	2	25244152	25244152	Human	1	name
150411640	CV1196881	single nucleotide variant	NM_022552.5(DNMT3A):c.73-234G>C	not provided [RCV001574084]	likely benign	2	25300477	25300477	Human		name
150436996	CV1200907	single nucleotide variant	NM_022552.5(DNMT3A):c.2478+1G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV005094823]\|not provided [RCV001582987]	pathogenic\|likely pathogenic	2	25236935	25236935	Human	1	name
150481931	CV1209877	single nucleotide variant	NM_022552.5(DNMT3A):c.72+162G>A	not provided [RCV001590575]	likely benign	2	25313751	25313751	Human		name
150470083	CV1219182	deletion	NM_022552.5(DNMT3A):c.640-49del	not provided [RCV001614934]	benign	2	25248301	25248301	Human		name
150530924	CV1310312	single nucleotide variant	NM_022552.5(DNMT3A):c.1555-1G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV001775240]	pathogenic	2	25244653	25244653	Human	1	name
150540435	CV1314560	single nucleotide variant	NM_022552.5(DNMT3A):c.1554+1G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV003832391]	likely pathogenic	2	25245252	25245252	Human	1	name
150540436	CV1314561	single nucleotide variant	NM_022552.5(DNMT3A):c.2173+1G>A	not provided [RCV001780993]	likely pathogenic	2	25240639	25240639	Human		name
151234417	CV1320909	single nucleotide variant	NM_022552.5(DNMT3A):c.2322+1G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV001801261]	pathogenic	2	25240301	25240301	Human	1	name
151351586	CV1324943	single nucleotide variant	NM_022552.5(DNMT3A):c.1668-1G>A	not provided [RCV001810521]	not provided	2	25244339	25244339	Human		name
151728041	CV1335118	single nucleotide variant	NM_022552.5(DNMT3A):c.1851+2T>C	not provided [RCV001844436]	not provided	2	25244153	25244153	Human		name
151788909	CV1394126	single nucleotide variant	NM_022552.5(DNMT3A):c.2409-1G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV002046908]	likely pathogenic	2	25237006	25237006	Human	1	name
151829541	CV1491513	single nucleotide variant	NM_022552.5(DNMT3A):c.2597+3A>G	Tatton-Brown-Rahman overgrowth syndrome [RCV002030662]	uncertain significance	2	25235704	25235704	Human	1	name
152089547	CV1580677	single nucleotide variant	NM_022552.5(DNMT3A):c.2598-7C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV002093977]	likely benign	2	25234427	25234427	Human	1	name
152155248	CV1668253	single nucleotide variant	NM_022552.5(DNMT3A):c.2478+2T>G	not provided [RCV002221989]	not provided	2	25236934	25236934	Human		name
155641694	CV1709909	single nucleotide variant	NM_022552.5(DNMT3A):c.1555-1G>T	not provided [RCV002293009]	pathogenic	2	25244653	25244653	Human		name
156413353	CV1887849	single nucleotide variant	NM_022552.5(DNMT3A):c.1122+9C>A	Tatton-Brown-Rahman overgrowth syndrome [RCV003073256]	likely benign	2	25247042	25247042	Human	1	name
156264625	CV1910155	single nucleotide variant	NM_022552.5(DNMT3A):c.2597+7G>A	DNMT3A-related disorder [RCV003973692]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002627882]	likely benign	2	25235700	25235700	Human	1	name , trait , alternate_id
156365298	CV1912954	single nucleotide variant	NM_022552.5(DNMT3A):c.1475-4C>G	DNMT3A-related disorder [RCV003918914]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002602784]	likely benign	2	25245336	25245336	Human	1	name , trait , alternate_id
156418569	CV1922337	deletion	NM_022552.5(DNMT3A):c.1015-3del	Tatton-Brown-Rahman overgrowth syndrome [RCV002611768]	benign	2	25247161	25247161	Human	1	name
156125321	CV2046679	single nucleotide variant	NM_022552.5(DNMT3A):c.1852-9A>G	Tatton-Brown-Rahman overgrowth syndrome [RCV002800393]	likely benign	2	25243991	25243991	Human	1	name
156202345	CV2076540	single nucleotide variant	NM_022552.5(DNMT3A):c.640-17G>C	Tatton-Brown-Rahman overgrowth syndrome [RCV002852512]	likely benign	2	25248269	25248269	Human	1	name
155977396	CV2100161	single nucleotide variant	NM_022552.5(DNMT3A):c.1555-8C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV002881768]	likely benign\|uncertain significance	2	25244660	25244660	Human	1	name
155949599	CV2123400	single nucleotide variant	NM_022552.5(DNMT3A):c.1123-4C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV002971786]	likely benign	2	25246780	25246780	Human	1	name
155932751	CV2290862	single nucleotide variant	NM_022552.5(DNMT3A):c.448+48C>G	DNMT3A-related disorder [RCV003404171]\|Inborn genetic diseases [RCV002861219]	uncertain significance	2	25282393	25282393	Human	1	name , trait , alternate_id
243053235	CV2418160	single nucleotide variant	NM_022552.5(DNMT3A):c.2479-1G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV003153226]	likely pathogenic	2	25235826	25235826	Human	1	name
329847922	CV2524636	single nucleotide variant	NM_022552.5(DNMT3A):c.2597+1G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV003227565]	pathogenic	2	25235706	25235706	Human	1	name
401722986	CV2737764	single nucleotide variant	NM_022552.5(DNMT3A):c.1667+5G>A	not provided [RCV003314936]	uncertain significance	2	25244535	25244535	Human		name
401741983	CV2738883	single nucleotide variant	NM_022552.5(DNMT3A):c.1123-2A>G	not provided [RCV003318277]	uncertain significance	2	25246778	25246778	Human		name
401937484	CV2815587	single nucleotide variant	NM_022552.5(DNMT3A):c.448+40C>A	not provided [RCV003415519]	uncertain significance	2	25282401	25282401	Human		name
401964030	CV2843466	single nucleotide variant	NM_022552.5(DNMT3A):c.448+48C>A	DNMT3A-related disorder [RCV004747299]\|not specified [RCV003479808]	likely benign\|uncertain significance	2	25282393	25282393	Human		name , trait , alternate_id
405149003	CV2855484	single nucleotide variant	NM_022552.5(DNMT3A):c.493-14T>G	Tatton-Brown-Rahman overgrowth syndrome [RCV003585478]	likely benign	2	25275101	25275101	Human	1	name
405139927	CV2882014	single nucleotide variant	NM_022552.5(DNMT3A):c.1852-5C>T	DNMT3A-related disorder [RCV003919286]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003584036]	likely benign	2	25243987	25243987	Human	1	name , trait , alternate_id
405140409	CV2882604	single nucleotide variant	NM_022552.5(DNMT3A):c.1667+1G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV003584060]	likely pathogenic	2	25244539	25244539	Human	1	name
405150632	CV2885044	single nucleotide variant	NM_022552.5(DNMT3A):c.1015-9T>C	Tatton-Brown-Rahman overgrowth syndrome [RCV003585622]	likely benign	2	25247167	25247167	Human	1	name
405141126	CV2899506	single nucleotide variant	NM_022552.5(DNMT3A):c.856-14C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV003584128]	likely benign	2	25247763	25247763	Human	1	name
405142000	CV2909066	single nucleotide variant	NM_022552.5(DNMT3A):c.1667+3G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV003584243]	uncertain significance	2	25244537	25244537	Human	1	name
405248772	CV2963712	single nucleotide variant	NM_022552.5(DNMT3A):c.640-10G>T	Tatton-Brown-Rahman overgrowth syndrome [RCV003746905]	likely benign	2	25248262	25248262	Human	1	name
405249896	CV3003489	single nucleotide variant	NM_022552.5(DNMT3A):c.1015-8C>A	Tatton-Brown-Rahman overgrowth syndrome [RCV003747320]	likely benign	2	25247166	25247166	Human	1	name
405247256	CV3035425	single nucleotide variant	NM_022552.5(DNMT3A):c.1123-9A>G	Tatton-Brown-Rahman overgrowth syndrome [RCV003746301]	likely benign	2	25246785	25246785	Human	1	name
405247605	CV3044650	single nucleotide variant	NM_022552.5(DNMT3A):c.493-15G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV003746436]	likely benign	2	25275102	25275102	Human	1	name
405090059	CV3167835	single nucleotide variant	NM_022552.5(DNMT3A):c.177+10A>G	Tatton-Brown-Rahman overgrowth syndrome [RCV003852225]	likely benign	2	25300129	25300129	Human	1	name
405287088	CV3193022	single nucleotide variant	NM_022552.5(DNMT3A):c.2173+9C>T	DNMT3A-related disorder [RCV003981696]	likely benign	2	25240631	25240631	Human		name , trait , alternate_id
405261890	CV3194319	single nucleotide variant	NM_022552.5(DNMT3A):c.1014+7T>C	DNMT3A-related disorder [RCV003896352]	likely benign	2	25247584	25247584	Human		name , trait , alternate_id
405259801	CV3195243	single nucleotide variant	NM_022552.5(DNMT3A):c.1015-4C>G	DNMT3A-related disorder [RCV003894438]\|Tatton-Brown-Rahman overgrowth syndrome [RCV005101620]	likely benign	2	25247162	25247162	Human	1	name , trait , alternate_id
405264955	CV3201420	single nucleotide variant	NM_022552.5(DNMT3A):c.2479-7C>A	DNMT3A-related disorder [RCV003897178]	likely benign	2	25235832	25235832	Human		name , trait , alternate_id
405269658	CV3201782	single nucleotide variant	NM_022552.5(DNMT3A):c.1936+3G>A	DNMT3A-related disorder [RCV003899687]\|Tatton-Brown-Rahman overgrowth syndrome [RCV005064754]	likely benign\|uncertain significance	2	25243895	25243895	Human	1	name , trait , alternate_id
405279051	CV3217336	single nucleotide variant	NM_022552.5(DNMT3A):c.1936+8G>A	DNMT3A-related disorder [RCV003976774]\|Tatton-Brown-Rahman overgrowth syndrome [RCV005103092]	likely benign	2	25243890	25243890	Human	1	name , trait , alternate_id
405278734	CV3220366	single nucleotide variant	NM_022552.5(DNMT3A):c.2479-6A>G	DNMT3A-related disorder [RCV003976588]	likely benign	2	25235831	25235831	Human		name , trait , alternate_id
408368141	CV3224481	single nucleotide variant	NM_022552.5(DNMT3A):c.1430-1G>C	Tatton-Brown-Rahman overgrowth syndrome [RCV004723560]	likely pathogenic	2	25246065	25246065	Human	1	name
405709749	CV3225680	single nucleotide variant	NM_022552.5(DNMT3A):c.2598-1G>C	Tatton-Brown-Rahman overgrowth syndrome [RCV003990738]	likely pathogenic	2	25234421	25234421	Human	1	name
407480672	CV3415321	single nucleotide variant	NM_022552.5(DNMT3A):c.2409-2A>T	Tatton-Brown-Rahman overgrowth syndrome [RCV004596031]	pathogenic	2	25237007	25237007	Human	1	name
407502728	CV3495708	single nucleotide variant	NM_022552.5(DNMT3A):c.2597+1G>T	not provided [RCV004697548]	likely pathogenic	2	25235706	25235706	Human		name
408375225	CV3510578	single nucleotide variant	NM_022552.5(DNMT3A):c.2597+6C>T	DNMT3A-related disorder [RCV004747867]	likely benign	2	25235701	25235701	Human		name , trait , alternate_id
408375313	CV3511466	single nucleotide variant	NM_022552.5(DNMT3A):c.1554+5G>A	DNMT3A-related disorder [RCV004747992]	likely benign	2	25245248	25245248	Human		name , trait , alternate_id
408373881	CV3513266	single nucleotide variant	NM_022552.5(DNMT3A):c.448+17A>T	DNMT3A-related disorder [RCV004745814]	likely benign	2	25282424	25282424	Human		name , trait , alternate_id
408373921	CV3513457	single nucleotide variant	NM_022552.5(DNMT3A):c.448+50C>G	DNMT3A-related disorder [RCV004745850]	likely benign	2	25282391	25282391	Human		name , trait , alternate_id
408374160	CV3515145	single nucleotide variant	NM_022552.5(DNMT3A):c.1429+9C>G	DNMT3A-related disorder [RCV004746078]	likely benign	2	25246151	25246151	Human		name , trait , alternate_id
408374301	CV3515557	single nucleotide variant	NM_022552.5(DNMT3A):c.1015-7C>T	DNMT3A-related disorder [RCV004746648]	likely benign	2	25247165	25247165	Human		name , trait , alternate_id
596920379	CV3534562	single nucleotide variant	NM_022552.5(DNMT3A):c.2082+3A>G	not specified [RCV004782123]	uncertain significance	2	25241559	25241559	Human		name
596939863	CV3543124	single nucleotide variant	NM_022552.5(DNMT3A):c.2408+2T>C	Tatton-Brown-Rahman overgrowth syndrome [RCV004798996]	likely pathogenic	2	25239128	25239128	Human	1	name
597907119	CV3781432	single nucleotide variant	NM_022552.5(DNMT3A):c.2083-7C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV005128120]	likely benign	2	25240737	25240737	Human	1	name
597974020	CV3801697	single nucleotide variant	NM_022552.5(DNMT3A):c.2174-7C>G	Tatton-Brown-Rahman overgrowth syndrome [RCV005143686]	uncertain significance	2	25240457	25240457	Human	1	name
597882495	CV3803137	single nucleotide variant	NM_022552.5(DNMT3A):c.1555-3T>C	Tatton-Brown-Rahman overgrowth syndrome [RCV005149988]	uncertain significance	2	25244655	25244655	Human	1	name
597887696	CV3804348	single nucleotide variant	NM_022552.5(DNMT3A):c.492+13C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV005150799]	likely benign	2	25275487	25275487	Human	1	name
597944532	CV3812479	single nucleotide variant	NM_022552.5(DNMT3A):c.639+15G>C	Tatton-Brown-Rahman overgrowth syndrome [RCV005159689]	likely benign	2	25274926	25274926	Human	1	name
597866413	CV3834457	single nucleotide variant	NM_022552.5(DNMT3A):c.2598-1G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV005175824]	uncertain significance	2	25234421	25234421	Human	1	name
597902641	CV3835927	single nucleotide variant	NM_022552.5(DNMT3A):c.1015-6C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV005181462]	likely benign	2	25247164	25247164	Human	1	name
597946993	CV3841787	single nucleotide variant	NM_022552.5(DNMT3A):c.1015-3C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV005189221]	uncertain significance	2	25247161	25247161	Human	1	name
597922453	CV3843251	single nucleotide variant	NM_022552.5(DNMT3A):c.448+20G>T	Tatton-Brown-Rahman overgrowth syndrome [RCV005184543]	likely benign	2	25282421	25282421	Human	1	name
597945276	CV3844194	single nucleotide variant	NM_022552.5(DNMT3A):c.449-17T>C	Tatton-Brown-Rahman overgrowth syndrome [RCV005188803]	likely benign	2	25275560	25275560	Human	1	name
597951247	CV3847130	single nucleotide variant	NM_022552.5(DNMT3A):c.639+19T>A	Tatton-Brown-Rahman overgrowth syndrome [RCV005190302]	likely benign	2	25274922	25274922	Human	1	name
597932309	CV3863231	single nucleotide variant	NM_022552.5(DNMT3A):c.1474+4A>T	Tatton-Brown-Rahman overgrowth syndrome [RCV005206757]	uncertain significance	2	25246016	25246016	Human	1	name
12893981	CV405693	single nucleotide variant	NM_022552.5(DNMT3A):c.1015-2A>G	not provided [RCV000481026]	likely pathogenic	2	25247160	25247160	Human		name
13213064	CV428045	single nucleotide variant	NM_022552.5(DNMT3A):c.2598-3C>T	DNMT3A-related disorder [RCV003900041]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002527239]\|not specified [RCV000499457]	likely benign\|uncertain significance	2	25234423	25234423	Human	1	name , trait , alternate_id
13213878	CV428049	single nucleotide variant	NM_022552.5(DNMT3A):c.1015-4C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV003746529]\|not specified [RCV000500562]	likely benign\|uncertain significance	2	25247162	25247162	Human	1	name
13473187	CV443219	single nucleotide variant	NM_022552.5(DNMT3A):c.2478+1G>T	not provided [RCV000519319]	likely pathogenic	2	25236935	25236935	Human		name
15179645	CV777287	single nucleotide variant	NM_022552.5(DNMT3A):c.1280-7C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV000951567]\|not provided [RCV001683697]	benign	2	25246316	25246316	Human	1	name
26907543	CV851412	single nucleotide variant	NM_022552.5(DNMT3A):c.1122+3G>A	DNMT3A-related disorder [RCV003898044]\|Tatton-Brown-Rahman overgrowth syndrome [RCV001038011]	likely benign\|uncertain significance	2	25247048	25247048	Human	1	name , trait , alternate_id
28907546	CV859152	single nucleotide variant	NM_022552.5(DNMT3A):c.1851+1G>C	not provided [RCV001093355]	pathogenic	2	25244154	25244154	Human		name
40816433	CV967263	single nucleotide variant	NM_022552.5(DNMT3A):c.1937-2A>G	Tatton-Brown-Rahman overgrowth syndrome [RCV001258351]\|not provided [RCV001560963]	pathogenic	2	25241709	25241709	Human	1	name
8577090	CV111460	single nucleotide variant	NM_175629.2(DNMT3A):c.72+4863A>C	Lung cancer [RCV000091983]	uncertain significance	2	25309050	25309050	Human		name
150331117	CV1168907	single nucleotide variant	NM_022552.5(DNMT3A):c.177+213C>T	not provided [RCV001536340]	benign	2	25299926	25299926	Human		name
150334718	CV1170942	single nucleotide variant	NM_022552.5(DNMT3A):c.493-111G>T	not provided [RCV001540201]	likely benign	2	25275198	25275198	Human		name
150422444	CV1179500	single nucleotide variant	NM_022552.5(DNMT3A):c.640-155T>C	not provided [RCV001552642]	likely benign	2	25248407	25248407	Human		name
150419523	CV1179501	duplication	NM_022552.5(DNMT3A):c.493-181dup	not provided [RCV001551100]	likely benign	2	25275261	25275262	Human		name
150423831	CV1183153	single nucleotide variant	NM_022552.5(DNMT3A):c.2598-62G>A	not provided [RCV001555857]	likely benign	2	25234482	25234482	Human		name
150423557	CV1183154	single nucleotide variant	NM_022552.5(DNMT3A):c.2597+78T>C	not provided [RCV001555488]	likely benign	2	25235629	25235629	Human		name
150423913	CV1183158	single nucleotide variant	NM_022552.5(DNMT3A):c.177+339C>T	not provided [RCV001555961]	likely benign	2	25299800	25299800	Human		name
150426720	CV1186422	single nucleotide variant	NM_022552.5(DNMT3A):c.493-171C>G	not provided [RCV001559933]	likely benign	2	25275258	25275258	Human		name
150409298	CV1189862	single nucleotide variant	NM_022552.5(DNMT3A):c.448+104G>A	not provided [RCV001565618]	likely benign	2	25282337	25282337	Human		name
150406349	CV1189863	single nucleotide variant	NM_022552.5(DNMT3A):c.178-300G>A	not provided [RCV001564659]	likely benign	2	25283011	25283011	Human		name
150503569	CV1212509	single nucleotide variant	NM_022552.5(DNMT3A):c.2597+30G>A	not provided [RCV001595384]	benign	2	25235677	25235677	Human		name
150508024	CV1213921	single nucleotide variant	NM_022552.5(DNMT3A):c.1279+18G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV002072362]\|not provided [RCV001596442]	benign\|likely benign	2	25246602	25246602	Human	1	name
150498219	CV1224100	single nucleotide variant	NM_022552.5(DNMT3A):c.178-213A>G	not provided [RCV001620212]	benign	2	25282924	25282924	Human		name
150494814	CV1224964	single nucleotide variant	NM_022552.5(DNMT3A):c.2173+26C>T	not provided [RCV001619442]	benign	2	25240614	25240614	Human	1	name
150463265	CV1235030	single nucleotide variant	NM_022552.5(DNMT3A):c.1852-37C>A	not provided [RCV001649612]	benign	2	25244019	25244019	Human		name
150459508	CV1268353	single nucleotide variant	NM_022552.5(DNMT3A):c.1430-13C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV002073238]\|not provided [RCV001693350]	benign	2	25246077	25246077	Human	1	name
150449401	CV1275666	single nucleotide variant	NM_022552.5(DNMT3A):c.448+118G>C	not provided [RCV001708121]	benign	2	25282323	25282323	Human		name
150492890	CV1281489	single nucleotide variant	NM_022552.5(DNMT3A):c.449-153G>C	not provided [RCV001716898]	benign	2	25275696	25275696	Human		name
152036748	CV1521755	single nucleotide variant	NM_022552.5(DNMT3A):c.1122+17G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV002187629]	likely benign	2	25247034	25247034	Human	1	name
152069545	CV1526570	single nucleotide variant	NM_022552.5(DNMT3A):c.2478+13G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV002074911]	likely benign	2	25236923	25236923	Human	1	name
152133007	CV1585178	single nucleotide variant	NM_022552.5(DNMT3A):c.2083-20C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV002083125]	likely benign	2	25240750	25240750	Human	1	name
152082692	CV1589624	single nucleotide variant	NM_022552.5(DNMT3A):c.2083-19G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV002112970]	likely benign	2	25240749	25240749	Human	1	name
152037652	CV1605679	single nucleotide variant	NM_022552.5(DNMT3A):c.1555-13C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV002087482]	likely benign	2	25244665	25244665	Human	1	name
156187170	CV1882507	single nucleotide variant	NM_022552.5(DNMT3A):c.1014+19C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV003083753]	likely benign	2	25247572	25247572	Human	1	name
156292767	CV1883823	single nucleotide variant	NM_022552.5(DNMT3A):c.2478+12C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV003087555]	likely benign	2	25236924	25236924	Human	1	name
156288494	CV1885020	single nucleotide variant	NM_022552.5(DNMT3A):c.1429+17T>C	Tatton-Brown-Rahman overgrowth syndrome [RCV003061348]	likely benign	2	25246143	25246143	Human	1	name
156101519	CV1907136	single nucleotide variant	NM_022552.5(DNMT3A):c.2082+20C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV003080619]	likely benign	2	25241542	25241542	Human	1	name
156151881	CV1929393	single nucleotide variant	NM_022552.5(DNMT3A):c.1123-10C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV002624033]	likely benign	2	25246786	25246786	Human	1	name
156394206	CV2002705	single nucleotide variant	NM_022552.5(DNMT3A):c.1474+19A>C	Tatton-Brown-Rahman overgrowth syndrome [RCV002681075]	likely benign	2	25246001	25246001	Human	1	name
156382185	CV2004894	single nucleotide variant	NM_022552.5(DNMT3A):c.2323-16G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV002653739]	likely benign	2	25239231	25239231	Human	1	name
155952921	CV2033218	single nucleotide variant	NM_022552.5(DNMT3A):c.2479-15C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV002730777]	likely benign	2	25235840	25235840	Human	1	name
156233601	CV2093939	single nucleotide variant	NM_022552.5(DNMT3A):c.2597+12G>T	Tatton-Brown-Rahman overgrowth syndrome [RCV002894647]	likely benign	2	25235695	25235695	Human	1	name
156183956	CV2102583	single nucleotide variant	NM_022552.5(DNMT3A):c.1123-14G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV002917236]	likely benign	2	25246790	25246790	Human	1	name
156091374	CV2102686	single nucleotide variant	NM_022552.5(DNMT3A):c.1668-12G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV002913050]	likely benign	2	25244350	25244350	Human	1	name
156238440	CV2108998	single nucleotide variant	NM_022552.5(DNMT3A):c.1279+13A>C	Tatton-Brown-Rahman overgrowth syndrome [RCV002933111]	likely benign	2	25246607	25246607	Human	1	name
155908212	CV2130945	single nucleotide variant	NM_022552.5(DNMT3A):c.1851+20C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV002967849]	likely benign	2	25244135	25244135	Human	1	name
156161961	CV2136862	single nucleotide variant	NM_022552.5(DNMT3A):c.2408+14C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV003005097]	likely benign	2	25239116	25239116	Human	1	name
405149369	CV2860044	duplication	NM_022552.5(DNMT3A):c.2323-19dup	Tatton-Brown-Rahman overgrowth syndrome [RCV003585511]	likely benign	2	25239233	25239234	Human	1	name
405148428	CV2864125	single nucleotide variant	NM_022552.5(DNMT3A):c.1123-15C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV003585430]	uncertain significance	2	25246791	25246791	Human	1	name
405149996	CV2868628	single nucleotide variant	NM_022552.5(DNMT3A):c.1430-14T>C	Tatton-Brown-Rahman overgrowth syndrome [RCV003585566]	likely benign	2	25246078	25246078	Human	1	name
405149459	CV2873966	single nucleotide variant	NM_022552.5(DNMT3A):c.1667+16C>A	Tatton-Brown-Rahman overgrowth syndrome [RCV003585519]	likely benign	2	25244524	25244524	Human	1	name
405149640	CV2878155	single nucleotide variant	NM_022552.5(DNMT3A):c.1554+12C>A	Tatton-Brown-Rahman overgrowth syndrome [RCV003585535]	likely benign	2	25245241	25245241	Human	1	name
405141279	CV2895914	single nucleotide variant	NM_022552.5(DNMT3A):c.2323-17C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV003584145]	likely benign	2	25239232	25239232	Human	1	name
405141407	CV2906647	single nucleotide variant	NM_022552.5(DNMT3A):c.2174-10G>A	DNMT3A-related disorder [RCV004747326]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003584158]	likely benign	2	25240460	25240460	Human	1	name , trait , alternate_id
405247706	CV3038871	single nucleotide variant	NM_022552.5(DNMT3A):c.1123-12G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV003746326]	likely benign	2	25246788	25246788	Human	1	name
405247684	CV3048551	single nucleotide variant	NM_022552.5(DNMT3A):c.1122+15T>A	Tatton-Brown-Rahman overgrowth syndrome [RCV003746467]	likely benign	2	25247036	25247036	Human	1	name
405250299	CV3060633	single nucleotide variant	NM_022552.5(DNMT3A):c.2083-19G>C	Tatton-Brown-Rahman overgrowth syndrome [RCV003747467]	likely benign	2	25240749	25240749	Human	1	name
405250340	CV3064442	single nucleotide variant	NM_022552.5(DNMT3A):c.1475-19C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV003747484]	likely benign	2	25245351	25245351	Human	1	name
405239110	CV3165834	single nucleotide variant	NM_022552.5(DNMT3A):c.1851+19G>T	Tatton-Brown-Rahman overgrowth syndrome [RCV003866846]	likely benign	2	25244136	25244136	Human	1	name
402466693	CV3177696	single nucleotide variant	NM_022552.5(DNMT3A):c.2174-11C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV003873134]	likely benign	2	25240461	25240461	Human	1	name
405277838	CV3190980	single nucleotide variant	NM_022552.5(DNMT3A):c.2479-10C>T	DNMT3A-related disorder [RCV003904702]\|Tatton-Brown-Rahman overgrowth syndrome [RCV005064794]	likely benign	2	25235835	25235835	Human	1	name , trait , alternate_id
408373758	CV3512390	single nucleotide variant	NM_022552.5(DNMT3A):c.2082+10T>C	DNMT3A-related disorder [RCV004745689]\|Tatton-Brown-Rahman overgrowth syndrome [RCV005059846]	likely benign	2	25241552	25241552	Human	1	name , trait , alternate_id
597870735	CV3749953	single nucleotide variant	NM_022552.5(DNMT3A):c.1936+14G>T	Tatton-Brown-Rahman overgrowth syndrome [RCV005068634]	likely benign	2	25243884	25243884	Human	1	name
597959372	CV3752289	single nucleotide variant	NM_022552.5(DNMT3A):c.2408+12C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV005081239]	likely benign	2	25239118	25239118	Human	1	name
597953562	CV3776445	single nucleotide variant	NM_022552.5(DNMT3A):c.2173+18C>T	Tatton-Brown-Rahman overgrowth syndrome [RCV005121573]	likely benign	2	25240622	25240622	Human	1	name
597944612	CV3776642	single nucleotide variant	NM_022552.5(DNMT3A):c.2174-19T>G	Tatton-Brown-Rahman overgrowth syndrome [RCV005119498]	likely benign	2	25240469	25240469	Human	1	name
597901878	CV3779164	single nucleotide variant	NM_022552.5(DNMT3A):c.2083-15C>G	Tatton-Brown-Rahman overgrowth syndrome [RCV005127241]	uncertain significance	2	25240745	25240745	Human	1	name
597869100	CV3803436	single nucleotide variant	NM_022552.5(DNMT3A):c.1936+10G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV005148033]	likely benign	2	25243888	25243888	Human	1	name
597898748	CV3826671	single nucleotide variant	NM_022552.5(DNMT3A):c.1015-20G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV005180804]	likely benign	2	25247178	25247178	Human	1	name
597907597	CV3843029	single nucleotide variant	NM_022552.5(DNMT3A):c.2597+12G>A	Tatton-Brown-Rahman overgrowth syndrome [RCV005182337]	likely benign	2	25235695	25235695	Human	1	name
597933068	CV3844598	single nucleotide variant	NM_022552.5(DNMT3A):c.1852-20C>A	Tatton-Brown-Rahman overgrowth syndrome [RCV005186104]	likely benign	2	25244002	25244002	Human	1	name
597915457	CV3851252	single nucleotide variant	NM_022552.5(DNMT3A):c.2597+15C>A	Tatton-Brown-Rahman overgrowth syndrome [RCV005204220]	likely benign	2	25235692	25235692	Human	1	name
150330609	CV1170940	single nucleotide variant	NM_022552.5(DNMT3A):c.2408+223T>C	not provided [RCV001538178]	likely benign	2	25238907	25238907	Human		name
150337525	CV1170941	single nucleotide variant	NM_022552.5(DNMT3A):c.2083-272G>A	not provided [RCV001541706]	benign	2	25241002	25241002	Human	1	name
150337525	CV1170941	single nucleotide variant	NM_022552.5(DNMT3A):c.2083-272G>A	not provided [RCV001541706]	benign	2	25241002	25241003	Human	1	name
150414111	CV1176137	duplication	NM_022552.5(DNMT3A):c.2479-258dup	not provided [RCV001548000]	likely benign	2	25236067	25236068	Human		name
150422429	CV1179498	single nucleotide variant	NM_022552.5(DNMT3A):c.2322+118G>A	not provided [RCV001552622]	likely benign	2	25240184	25240184	Human		name
150424790	CV1183155	single nucleotide variant	NM_022552.5(DNMT3A):c.2409-253C>T	not provided [RCV001557129]	likely benign	2	25237258	25237258	Human		name
150424740	CV1183157	single nucleotide variant	NM_022552.5(DNMT3A):c.640-3916G>T	not provided [RCV001557061]	likely benign	2	25252168	25252168	Human		name
150406438	CV1193123	single nucleotide variant	NM_022552.5(DNMT3A):c.2409-172C>T	not provided [RCV001572022]	likely benign	2	25237177	25237177	Human		name
150465716	CV1201123	single nucleotide variant	NM_022552.5(DNMT3A):c.-177-158G>A	not provided [RCV001587603]	likely benign	2	25314319	25314319	Human		name
150438405	CV1201398	single nucleotide variant	NM_022552.5(DNMT3A):c.1279+143G>A	not provided [RCV001583210]	likely benign	2	25246477	25246477	Human		name
150462534	CV1206603	single nucleotide variant	NM_022552.5(DNMT3A):c.2409-127G>C	not provided [RCV001587004]	likely benign	2	25237132	25237132	Human		name
150481106	CV1209728	single nucleotide variant	NM_022552.5(DNMT3A):c.2409-290T>C	not provided [RCV001590425]	likely benign	2	25237295	25237295	Human		name
150475673	CV1216700	single nucleotide variant	NM_022552.5(DNMT3A):c.1554+255A>T	not provided [RCV001615993]	benign	2	25244998	25244998	Human		name
150457349	CV1269477	single nucleotide variant	NM_022552.5(DNMT3A):c.2479-159T>C	not provided [RCV001693017]	benign	2	25235984	25235984	Human		name
150485104	CV1280648	single nucleotide variant	NM_022552.5(DNMT3A):c.2322+183C>T	not provided [RCV001715520]	benign	2	25240119	25240119	Human		name
150504691	CV1286008	single nucleotide variant	NM_022552.5(DNMT3A):c.2597+197C>T	not provided [RCV001719431]	benign	2	25235510	25235510	Human		name
150504827	CV1286035	single nucleotide variant	NM_022552.5(DNMT3A):c.640-1663G>A	not provided [RCV001719458]	benign	2	25249915	25249915	Human		name
150504857	CV1286041	single nucleotide variant	NM_022552.5(DNMT3A):c.2323-243G>C	not provided [RCV001719464]	benign	2	25239458	25239458	Human		name
156265588	CV2299232	single nucleotide variant	NM_022552.5(DNMT3A):c.640-1461C>T	Inborn genetic diseases [RCV002855699]	uncertain significance	2	25249713	25249713	Human	1	name
401908917	CV2798905	single nucleotide variant	NM_022552.5(DNMT3A):c.640-3760T>C	DNMT3A-related disorder [RCV003397688]	uncertain significance	2	25252012	25252012	Human		name , trait , alternate_id
401916414	CV2799662	single nucleotide variant	NM_022552.5(DNMT3A):c.640-3841T>A	DNMT3A-related disorder [RCV003429072]	uncertain significance	2	25252093	25252093	Human		name , trait , alternate_id
401911595	CV2800350	single nucleotide variant	NM_022552.5(DNMT3A):c.640-3749G>A	DNMT3A-related disorder [RCV003399589]	uncertain significance	2	25252001	25252001	Human		name , trait , alternate_id
401934903	CV2800672	single nucleotide variant	NM_022552.5(DNMT3A):c.640-1408T>A	DNMT3A-related disorder [RCV003412340]	uncertain significance	2	25249660	25249660	Human		name , trait , alternate_id
401931751	CV2801488	single nucleotide variant	NM_022552.5(DNMT3A):c.640-3659G>A	DNMT3A-related disorder [RCV003408466]	uncertain significance	2	25251911	25251911	Human		name , trait , alternate_id
401910886	CV2815585	single nucleotide variant	NM_022552.5(DNMT3A):c.640-3676C>G	DNMT3A-related disorder [RCV003938972]\|not provided [RCV003425532]	benign\|likely benign	2	25251928	25251928	Human		name , trait , alternate_id
401929384	CV2815586	single nucleotide variant	NM_022552.5(DNMT3A):c.640-3791G>A	not provided [RCV003407175]	benign	2	25252043	25252043	Human		name
405282559	CV3191088	single nucleotide variant	NM_022552.5(DNMT3A):c.640-3717G>A	DNMT3A-related disorder [RCV003921505]	likely benign	2	25251969	25251969	Human		name , trait , alternate_id
405292571	CV3192860	single nucleotide variant	NM_022552.5(DNMT3A):c.640-1471G>A	DNMT3A-related disorder [RCV003964622]	likely benign	2	25249723	25249723	Human		name , trait , alternate_id
405259145	CV3194510	single nucleotide variant	NM_022552.5(DNMT3A):c.640-1438C>T	DNMT3A-related disorder [RCV003893907]	likely benign	2	25249690	25249690	Human		name , trait , alternate_id
405289676	CV3218337	single nucleotide variant	NM_022552.5(DNMT3A):c.640-3764C>A	DNMT3A-related disorder [RCV003983739]	uncertain significance	2	25252016	25252016	Human		name , trait , alternate_id
405278827	CV3220476	single nucleotide variant	NM_022552.5(DNMT3A):c.640-3830C>G	DNMT3A-related disorder [RCV003976668]	uncertain significance	2	25252082	25252082	Human		name , trait , alternate_id
408371240	CV3503705	single nucleotide variant	NM_022552.5(DNMT3A):c.640-1404G>A	DNMT3A-related disorder [RCV004724590]	uncertain significance	2	25249656	25249656	Human		name , trait , alternate_id
408382368	CV3504530	single nucleotide variant	NM_022552.5(DNMT3A):c.640-3803G>A	DNMT3A-related disorder [RCV004729831]	uncertain significance	2	25252055	25252055	Human		name , trait , alternate_id
408378502	CV3505289	single nucleotide variant	NM_022552.5(DNMT3A):c.640-1449A>G	DNMT3A-related disorder [RCV004727995]	uncertain significance	2	25249701	25249701	Human		name , trait , alternate_id
408375772	CV3506478	single nucleotide variant	NM_022552.5(DNMT3A):c.640-3667G>C	DNMT3A-related disorder [RCV004726319]	uncertain significance	2	25251919	25251919	Human		name , trait , alternate_id
408374924	CV3508644	single nucleotide variant	NM_022552.5(DNMT3A):c.640-3766G>C	DNMT3A-related disorder [RCV004747624]	uncertain significance	2	25252018	25252018	Human		name , trait , alternate_id
408374986	CV3508685	single nucleotide variant	NM_022552.5(DNMT3A):c.640-3746C>T	DNMT3A-related disorder [RCV004747627]	uncertain significance	2	25251998	25251998	Human		name , trait , alternate_id
408375031	CV3509076	single nucleotide variant	NM_022552.5(DNMT3A):c.640-1426C>A	DNMT3A-related disorder [RCV004747679]	uncertain significance	2	25249678	25249678	Human		name , trait , alternate_id
408375089	CV3509510	single nucleotide variant	NM_022552.5(DNMT3A):c.640-3690G>A	DNMT3A-related disorder [RCV004747733]	likely benign	2	25251942	25251942	Human		name , trait , alternate_id
408375136	CV3510236	single nucleotide variant	NM_022552.5(DNMT3A):c.640-3832G>A	DNMT3A-related disorder [RCV004747828]	uncertain significance	2	25252084	25252084	Human		name , trait , alternate_id
408375240	CV3510678	single nucleotide variant	NM_022552.5(DNMT3A):c.640-3813G>T	DNMT3A-related disorder [RCV004747883]	likely benign	2	25252065	25252065	Human		name , trait , alternate_id
408373745	CV3512115	single nucleotide variant	NM_022552.5(DNMT3A):c.640-1437G>A	DNMT3A-related disorder [RCV004745672]	uncertain significance	2	25249689	25249689	Human		name , trait , alternate_id
408373792	CV3512685	single nucleotide variant	NM_022552.5(DNMT3A):c.640-3774G>A	DNMT3A-related disorder [RCV004745727]	likely benign	2	25252026	25252026	Human		name , trait , alternate_id
408373814	CV3512834	single nucleotide variant	NM_022552.5(DNMT3A):c.640-3947T>C	DNMT3A-related disorder [RCV004745749]	likely benign	2	25252199	25252199	Human		name , trait , alternate_id
408373891	CV3513049	single nucleotide variant	NM_022552.5(DNMT3A):c.640-3811C>G	DNMT3A-related disorder [RCV004745779]	uncertain significance	2	25252063	25252063	Human		name , trait , alternate_id
408373845	CV3513053	single nucleotide variant	NM_022552.5(DNMT3A):c.640-3800C>T	DNMT3A-related disorder [RCV004745780]	uncertain significance	2	25252052	25252052	Human		name , trait , alternate_id
408373862	CV3513149	single nucleotide variant	NM_022552.5(DNMT3A):c.640-3827G>A	DNMT3A-related disorder [RCV004745797]	uncertain significance	2	25252079	25252079	Human		name , trait , alternate_id
408373944	CV3513643	single nucleotide variant	NM_022552.5(DNMT3A):c.640-1417C>T	DNMT3A-related disorder [RCV004745871]	likely benign	2	25249669	25249669	Human		name , trait , alternate_id
408373996	CV3513767	single nucleotide variant	NM_022552.5(DNMT3A):c.640-3678G>C	DNMT3A-related disorder [RCV004745887]	likely benign	2	25251930	25251930	Human		name , trait , alternate_id
408374007	CV3513884	duplication	NM_022552.5(DNMT3A):c.640-3735dup	DNMT3A-related disorder [RCV004745899]	uncertain significance	2	25251986	25251987	Human		name , trait , alternate_id
408374694	CV3518030	single nucleotide variant	NM_022552.5(DNMT3A):c.640-3848T>G	DNMT3A-related disorder [RCV004747020]	likely benign	2	25252100	25252100	Human		name , trait , alternate_id
39456405	CV965476	single nucleotide variant	NM_022552.5(DNMT3A):c.640-1439G>A	DNMT3A-related disorder [RCV003953611]\|not provided [RCV001254995]	likely benign\|uncertain significance	2	25249691	25249691	Human		name , trait , alternate_id
8577091	CV111461	single nucleotide variant	NM_175629.2(DNMT3A):c.-178+8586G>A	Lung cancer [RCV000091984]	uncertain significance	2	25333844	25333844	Human		name
401830843	CV2419800	deletion	NM_022552.5(DNMT3A):c.1012_1014+3del	Heyn-Sproul-Jackson syndrome [RCV003330113]	pathogenic	2	25247588	25247593	Human	1	name
127318494	CV1154099	single nucleotide variant	NM_022552.5(DNMT3A):c.27C>T (p.Pro9=)	Tatton-Brown-Rahman overgrowth syndrome [RCV001521675]\|not provided [RCV001724335]	benign	2	25313958	25313958	Human	1	name
405248730	CV2952616	single nucleotide variant	NM_022552.5(DNMT3A):c.21C>T (p.Ser7=)	DNMT3A-related disorder [RCV003956454]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003746892]	likely benign	2	25313964	25313964	Human	1	name , trait , alternate_id
127307632	CV1112622	single nucleotide variant	NM_022552.5(DNMT3A):c.51G>A (p.Ala17=)	DNMT3A-related disorder [RCV003900595]\|Tatton-Brown-Rahman overgrowth syndrome [RCV001463094]	likely benign	2	25313934	25313934	Human	1	name , trait , alternate_id
156377057	CV1930597	single nucleotide variant	NM_022552.5(DNMT3A):c.7G>A (p.Ala3Thr)	DNMT3A-related disorder [RCV003984337]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002633926]	uncertain significance	2	25313978	25313978	Human	1	name , trait , alternate_id
156012908	CV2123022	single nucleotide variant	NM_022552.5(DNMT3A):c.75C>T (p.Asp25=)	DNMT3A-related disorder [RCV003926618]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002975743]	likely benign	2	25300241	25300241	Human	1	name , trait , alternate_id
405141418	CV2906657	single nucleotide variant	NM_022552.5(DNMT3A):c.96G>A (p.Pro32=)	Tatton-Brown-Rahman overgrowth syndrome [RCV003584159]	likely benign	2	25300220	25300220	Human	1	name
405269241	CV3201535	microsatellite	NM_022552.5(DNMT3A):c.2174-4_2174-3del	DNMT3A-related disorder [RCV003899449]	likely benign	2	25240453	25240454	Human		name , trait , alternate_id
405261884	CV3219986	single nucleotide variant	NM_022552.5(DNMT3A):c.66C>T (p.Asp22=)	DNMT3A-related disorder [RCV003967138]	likely benign	2	25313919	25313919	Human		name , trait , alternate_id
408371394	CV3503839	microsatellite	NM_022552.5(DNMT3A):c.1851+2_1851+3del	DNMT3A-related disorder [RCV004724678]	uncertain significance	2	25244152	25244153	Human		name , trait , alternate_id
408374913	CV3508581	single nucleotide variant	NM_022552.5(DNMT3A):c.48T>C (p.Ala16=)	DNMT3A-related disorder [RCV004747614]	likely benign	2	25313937	25313937	Human		name , trait , alternate_id
408374065	CV3514175	single nucleotide variant	NM_022552.5(DNMT3A):c.93G>A (p.Glu31=)	DNMT3A-related disorder [RCV004745945]	likely benign	2	25300223	25300223	Human		name , trait , alternate_id
15167647	CV747502	single nucleotide variant	NM_022552.5(DNMT3A):c.36C>T (p.Thr12=)	Tatton-Brown-Rahman overgrowth syndrome [RCV001488436]	likely benign	2	25313949	25313949	Human	1	name
15173460	CV788680	single nucleotide variant	NM_022552.5(DNMT3A):c.7G>T (p.Ala3Ser)	Multiple myeloma [RCV000984105]	likely pathogenic	2	25313978	25313978	Human	2	name
150534024	CV1307542	single nucleotide variant	NM_022552.5(DNMT3A):c.12G>C (p.Met4Ile)	not provided [RCV001755679]	uncertain significance	2	25313973	25313973	Human		name
152028497	CV1655262	single nucleotide variant	NM_022552.5(DNMT3A):c.270T>C (p.Asn90=)	Tatton-Brown-Rahman overgrowth syndrome [RCV002105253]	likely benign	2	25282619	25282619	Human	1	name
156437532	CV1947537	single nucleotide variant	NM_022552.5(DNMT3A):c.237C>A (p.Ala79=)	Tatton-Brown-Rahman overgrowth syndrome [RCV003107071]	likely benign	2	25282652	25282652	Human	1	name
156362142	CV2016751	single nucleotide variant	NM_022552.5(DNMT3A):c.19A>G (p.Ser7Gly)	Tatton-Brown-Rahman overgrowth syndrome [RCV002720937]	uncertain significance	2	25313966	25313966	Human	1	name
156333072	CV2172000	single nucleotide variant	NM_022552.5(DNMT3A):c.267C>T (p.Pro89=)	Tatton-Brown-Rahman overgrowth syndrome [RCV003029878]	likely benign	2	25282622	25282622	Human	1	name
401945464	CV2839607	single nucleotide variant	NM_022552.5(DNMT3A):c.102C>T (p.Gly34=)	Tatton-Brown-Rahman overgrowth syndrome [RCV003458183]	not provided	2	25300214	25300214	Human		name
405248898	CV2960852	deletion	NM_022552.5(DNMT3A):c.27del (p.Asp11fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV003746821]	pathogenic	2	25313958	25313958	Human	1	name
405249060	CV2965398	single nucleotide variant	NM_022552.5(DNMT3A):c.147G>T (p.Gly49=)	Tatton-Brown-Rahman overgrowth syndrome [RCV003746975]	uncertain significance	2	25300169	25300169	Human	1	name
405249712	CV2991458	single nucleotide variant	NM_022552.5(DNMT3A):c.249C>T (p.Gly83=)	Tatton-Brown-Rahman overgrowth syndrome [RCV003747243]	likely benign	2	25282640	25282640	Human	1	name
405247014	CV3029745	single nucleotide variant	NM_022552.5(DNMT3A):c.174C>T (p.Pro58=)	Tatton-Brown-Rahman overgrowth syndrome [RCV003746202]	likely benign	2	25300142	25300142	Human	1	name
405250450	CV3059548	single nucleotide variant	NM_022552.5(DNMT3A):c.186C>T (p.Ser62=)	DNMT3A-related disorder [RCV004747363]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003747534]	likely benign	2	25282703	25282703	Human	1	name , trait , alternate_id
405250688	CV3077641	single nucleotide variant	NM_022552.5(DNMT3A):c.13C>T (p.Pro5Ser)	Tatton-Brown-Rahman overgrowth syndrome [RCV003747657]	uncertain significance	2	25313972	25313972	Human	1	name
405138647	CV3130742	single nucleotide variant	NM_022552.5(DNMT3A):c.228A>G (p.Pro76=)	Tatton-Brown-Rahman overgrowth syndrome [RCV003838976]	likely benign	2	25282661	25282661	Human	1	name
402511943	CV3178422	single nucleotide variant	NM_022552.5(DNMT3A):c.162G>A (p.Lys54=)	Tatton-Brown-Rahman overgrowth syndrome [RCV003879039]	likely benign	2	25300154	25300154	Human	1	name
405260803	CV3204364	single nucleotide variant	NM_022552.5(DNMT3A):c.249C>A (p.Gly83=)	DNMT3A-related disorder [RCV003944193]	likely benign	2	25282640	25282640	Human		name , trait , alternate_id
408382337	CV3504463	single nucleotide variant	NM_022552.5(DNMT3A):c.213G>C (p.Val71=)	DNMT3A-related disorder [RCV004729781]	likely benign	2	25282676	25282676	Human		name , trait , alternate_id
408375712	CV3506529	single nucleotide variant	NM_022552.5(DNMT3A):c.14C>T (p.Pro5Leu)	DNMT3A-related disorder [RCV004726353]	uncertain significance	2	25313971	25313971	Human		name , trait , alternate_id
408375202	CV3510696	single nucleotide variant	NM_022552.5(DNMT3A):c.243C>T (p.Asp81=)	DNMT3A-related disorder [RCV004747886]	likely benign	2	25282646	25282646	Human		name , trait , alternate_id
408391274	CV3523131	duplication	NM_022552.5(DNMT3A):c.27dup (p.Gly10fs)	not provided [RCV004770503]	pathogenic	2	25313957	25313958	Human		name
597975767	CV3828688	single nucleotide variant	NM_022552.5(DNMT3A):c.195G>A (p.Thr65=)	Tatton-Brown-Rahman overgrowth syndrome [RCV005169317]	likely benign	2	25282694	25282694	Human	1	name
597907925	CV3829833	single nucleotide variant	NM_022552.5(DNMT3A):c.177G>A (p.Pro59=)	Tatton-Brown-Rahman overgrowth syndrome [RCV005182402]	uncertain significance	2	25300139	25300139	Human	1	name
15145981	CV691111	single nucleotide variant	NM_022552.5(DNMT3A):c.120G>A (p.Glu40=)	Acute myeloid leukemia [RCV002495331]\|DNMT3A-related disorder [RCV003920472]\|Tatton-Brown-Rahman overgrowth syndrome [RCV000878472]\|not provided [RCV001585853]	benign\|likely benign	2	25300196	25300196	Human	4	name , trait , alternate_id
15168382	CV697502	single nucleotide variant	NM_022552.5(DNMT3A):c.16T>G (p.Ser6Ala)	DNMT3A-related disorder [RCV003970695]\|Tatton-Brown-Rahman overgrowth syndrome [RCV000949244]\|not provided [RCV001545677]	likely benign	2	25313969	25313969	Human	1	name , trait , alternate_id
15202837	CV747501	single nucleotide variant	NM_022552.5(DNMT3A):c.210G>A (p.Ala70=)	DNMT3A-related disorder [RCV003913042]\|Tatton-Brown-Rahman overgrowth syndrome [RCV000913570]\|not provided [RCV001563018]	likely benign	2	25282679	25282679	Human	1	name , trait , alternate_id
26900894	CV826116	single nucleotide variant	NM_022552.5(DNMT3A):c.240G>A (p.Gln80=)	Tatton-Brown-Rahman overgrowth syndrome [RCV001071421]	likely benign\|uncertain significance	2	25282649	25282649	Human	1	name
127294343	CV1112621	single nucleotide variant	NM_022552.5(DNMT3A):c.765C>T (p.Ser255=)	DNMT3A-related disorder [RCV004746394]\|Inborn genetic diseases [RCV005330842]\|Tatton-Brown-Rahman overgrowth syndrome [RCV001452219]	likely benign	2	25248127	25248127	Human	2	name , trait , alternate_id
150337657	CV1170943	duplication	NM_022552.5(DNMT3A):c.176dup (p.Val60fs)	not provided [RCV001541787]	pathogenic	2	25300139	25300140	Human		name
150414591	CV1176141	single nucleotide variant	NM_022552.5(DNMT3A):c.76G>A (p.Gly26Arg)	DNMT3A-related disorder [RCV003900789]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003584975]\|not provided [RCV001548200]	likely benign\|uncertain significance	2	25300240	25300240	Human	1	name , trait , alternate_id
150414985	CV1196880	single nucleotide variant	NM_022552.5(DNMT3A):c.558G>A (p.Pro186=)	DNMT3A-related disorder [RCV003931216]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002568483]\|not provided [RCV001575199]	likely benign	2	25275022	25275022	Human	1	name , trait , alternate_id
150541862	CV1308382	single nucleotide variant	NM_022552.5(DNMT3A):c.64G>A (p.Asp22Asn)	not provided [RCV001768222]	uncertain significance	2	25313921	25313921	Human		name
151866718	CV1358638	single nucleotide variant	NM_022552.5(DNMT3A):c.98G>A (p.Arg33His)	Tatton-Brown-Rahman overgrowth syndrome [RCV001939245]\|not provided [RCV003329424]	uncertain significance	2	25300218	25300218	Human	1	name
8688712	CV137721	single nucleotide variant	NM_022552.5(DNMT3A):c.89A>C (p.Glu30Ala)	DNMT3A-related disorder [RCV003935147]\|Tatton-Brown-Rahman overgrowth syndrome [RCV000986598]\|not provided [RCV000513872]\|not specified [RCV000120651]	benign\|likely benign\|not provided	2	25300227	25300227	Human	1	name , trait , alternate_id
151872350	CV1435252	single nucleotide variant	NM_022552.5(DNMT3A):c.576G>A (p.Ala192=)	DNMT3A-related disorder [RCV004746504]\|Tatton-Brown-Rahman overgrowth syndrome [RCV001939981]	likely benign\|uncertain significance	2	25275004	25275004	Human	1	name , trait , alternate_id
152124828	CV1580567	single nucleotide variant	NM_022552.5(DNMT3A):c.768C>T (p.Pro256=)	Tatton-Brown-Rahman overgrowth syndrome [RCV002082065]	likely benign	2	25248124	25248124	Human	1	name
152107328	CV1605259	single nucleotide variant	NM_022552.5(DNMT3A):c.609G>C (p.Arg203=)	Tatton-Brown-Rahman overgrowth syndrome [RCV002196323]	likely benign	2	25274971	25274971	Human	1	name
156238144	CV1882261	single nucleotide variant	NM_022552.5(DNMT3A):c.309G>A (p.Glu103=)	DNMT3A-related disorder [RCV004747194]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003085642]	likely benign	2	25282580	25282580	Human	1	name , trait , alternate_id
156295115	CV1904561	single nucleotide variant	NM_022552.5(DNMT3A):c.50C>T (p.Ala17Val)	Tatton-Brown-Rahman overgrowth syndrome [RCV002598914]	uncertain significance	2	25313935	25313935	Human	1	name
155944985	CV1911229	single nucleotide variant	NM_022552.5(DNMT3A):c.696G>A (p.Gly232=)	Inborn genetic diseases [RCV004978683]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002615878]	likely benign	2	25248196	25248196	Human	2	name
156221229	CV1925079	single nucleotide variant	NM_022552.5(DNMT3A):c.55C>T (p.Arg19Trp)	Tatton-Brown-Rahman overgrowth syndrome [RCV002644415]\|not provided [RCV003491262]	uncertain significance	2	25313930	25313930	Human	1	name
156263485	CV1977644	single nucleotide variant	NM_022552.5(DNMT3A):c.993C>T (p.Phe331=)	Inborn genetic diseases [RCV005333269]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002597859]	likely benign	2	25247612	25247612	Human	2	name
156319343	CV2025225	single nucleotide variant	NM_022552.5(DNMT3A):c.660C>A (p.Val220=)	Tatton-Brown-Rahman overgrowth syndrome [RCV002716990]	likely benign	2	25248232	25248232	Human	1	name
156002610	CV2045658	single nucleotide variant	NM_022552.5(DNMT3A):c.68G>A (p.Arg23Gln)	Tatton-Brown-Rahman overgrowth syndrome [RCV002756282]	uncertain significance	2	25313917	25313917	Human	1	name
156025376	CV2078039	single nucleotide variant	NM_022552.5(DNMT3A):c.669A>T (p.Gly223=)	Tatton-Brown-Rahman overgrowth syndrome [RCV002866811]	likely benign	2	25248223	25248223	Human	1	name
156205754	CV2110264	single nucleotide variant	NM_022552.5(DNMT3A):c.480C>T (p.Ser160=)	DNMT3A-related disorder [RCV004747155]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002957547]	likely benign	2	25275512	25275512	Human	1	name , trait , alternate_id
156049609	CV2169037	single nucleotide variant	NM_022552.5(DNMT3A):c.840C>T (p.Asp280=)	DNMT3A-related disorder [RCV003943718]\|Inborn genetic diseases [RCV005333428]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003019351]	likely benign	2	25248052	25248052	Human	2	name , trait , alternate_id
156280438	CV2295039	single nucleotide variant	NM_022552.5(DNMT3A):c.639G>A (p.Glu213=)	Inborn genetic diseases [RCV002896482]	likely pathogenic	2	25274941	25274941	Human	1	name
401924067	CV2801035	single nucleotide variant	NM_022552.5(DNMT3A):c.71A>C (p.Lys24Thr)	DNMT3A-related disorder [RCV003404624]	uncertain significance	2	25313914	25313914	Human		name , trait , alternate_id
401929387	CV2815589	single nucleotide variant	NM_022552.5(DNMT3A):c.95C>T (p.Pro32Leu)	not provided [RCV003407176]	uncertain significance	2	25300221	25300221	Human		name
405149293	CV2856272	single nucleotide variant	NM_022552.5(DNMT3A):c.336C>T (p.Gly112=)	DNMT3A-related disorder [RCV003929210]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003585504]	likely benign	2	25282553	25282553	Human	1	name , trait , alternate_id
405149330	CV2856459	single nucleotide variant	NM_022552.5(DNMT3A):c.801C>G (p.Ser267=)	Inborn genetic diseases [RCV005333612]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003585507]	likely benign	2	25248091	25248091	Human	2	name
405140073	CV2885903	single nucleotide variant	NM_022552.5(DNMT3A):c.474C>T (p.Ile158=)	Tatton-Brown-Rahman overgrowth syndrome [RCV003584051]	likely benign	2	25275518	25275518	Human	1	name
405143155	CV2928984	deletion	NM_022552.5(DNMT3A):c.1555-37_1555-18del	Tatton-Brown-Rahman overgrowth syndrome [RCV003584360]	uncertain significance	2	25244670	25244689	Human	1	name
405249581	CV2979860	single nucleotide variant	NM_022552.5(DNMT3A):c.300G>A (p.Gln100=)	Tatton-Brown-Rahman overgrowth syndrome [RCV003747187]	likely benign	2	25282589	25282589	Human	1	name
405247196	CV3030717	single nucleotide variant	NM_022552.5(DNMT3A):c.999C>T (p.Asp333=)	DNMT3A-related disorder [RCV003909092]\|Inborn genetic diseases [RCV004980935]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003746253]	likely benign	2	25247606	25247606	Human	2	name , trait , alternate_id
405247199	CV3030821	single nucleotide variant	NM_022552.5(DNMT3A):c.89A>G (p.Glu30Gly)	Tatton-Brown-Rahman overgrowth syndrome [RCV003746254]\|not specified [RCV005240871]	uncertain significance	2	25300227	25300227	Human	1	name
405247229	CV3040760	single nucleotide variant	NM_022552.5(DNMT3A):c.699C>T (p.Pro233=)	DNMT3A-related disorder [RCV003901287]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003746290]	likely benign	2	25248193	25248193	Human	1	name , trait , alternate_id
405247434	CV3053255	single nucleotide variant	NM_022552.5(DNMT3A):c.582C>T (p.Asp194=)	Tatton-Brown-Rahman overgrowth syndrome [RCV003746369]	likely benign	2	25274998	25274998	Human	1	name
405250269	CV3057170	single nucleotide variant	NM_022552.5(DNMT3A):c.97C>T (p.Arg33Cys)	DNMT3A-related disorder [RCV004747356]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003747455]	uncertain significance	2	25300219	25300219	Human	1	name , trait , alternate_id
405250578	CV3076141	single nucleotide variant	NM_022552.5(DNMT3A):c.834C>T (p.Gly278=)	DNMT3A-related disorder [RCV004747368]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003747588]	uncertain significance	2	25248058	25248058	Human	1	name , trait , alternate_id
405085621	CV3137730	single nucleotide variant	NM_022552.5(DNMT3A):c.468C>T (p.Thr156=)	Tatton-Brown-Rahman overgrowth syndrome [RCV003834439]	likely benign	2	25275524	25275524	Human	1	name
405182579	CV3147687	single nucleotide variant	NM_022552.5(DNMT3A):c.324G>A (p.Gly108=)	Tatton-Brown-Rahman overgrowth syndrome [RCV003842589]	likely benign	2	25282565	25282565	Human	1	name
405280877	CV3190607	single nucleotide variant	NM_022552.5(DNMT3A):c.795G>T (p.Val265=)	DNMT3A-related disorder [RCV003907045]	likely benign	2	25248097	25248097	Human		name , trait , alternate_id
405279172	CV3217399	single nucleotide variant	NM_022552.5(DNMT3A):c.429A>T (p.Arg143=)	DNMT3A-related disorder [RCV003976824]	likely benign	2	25282460	25282460	Human		name , trait , alternate_id
405272897	CV3220606	single nucleotide variant	NM_022552.5(DNMT3A):c.948G>C (p.Thr316=)	DNMT3A-related disorder [RCV003972299]\|Inborn genetic diseases [RCV004981154]\|Tatton-Brown-Rahman overgrowth syndrome [RCV005103067]	likely benign	2	25247657	25247657	Human	2	name , trait , alternate_id
407502755	CV3495711	deletion	NM_022552.5(DNMT3A):c.241del (p.Asp81fs)	not provided [RCV004697551]	likely pathogenic	2	25282648	25282648	Human		name
408382482	CV3503349	single nucleotide variant	NM_022552.5(DNMT3A):c.348A>G (p.Ala116=)	DNMT3A-related disorder [RCV004729924]	likely benign	2	25282541	25282541	Human		name , trait , alternate_id
408382605	CV3503507	single nucleotide variant	NM_022552.5(DNMT3A):c.65A>T (p.Asp22Val)	DNMT3A-related disorder [RCV004730022]	uncertain significance	2	25313920	25313920	Human		name , trait , alternate_id
408379471	CV3506906	single nucleotide variant	NM_022552.5(DNMT3A):c.702G>C (p.Gly234=)	DNMT3A-related disorder [RCV004728407]	likely benign	2	25248190	25248190	Human		name , trait , alternate_id
408374968	CV3508981	single nucleotide variant	NM_022552.5(DNMT3A):c.954G>C (p.Arg318=)	DNMT3A-related disorder [RCV004747665]	likely benign	2	25247651	25247651	Human		name , trait , alternate_id
408374970	CV3509013	single nucleotide variant	NM_022552.5(DNMT3A):c.966T>C (p.Ala322=)	DNMT3A-related disorder [RCV004747667]	likely benign	2	25247639	25247639	Human		name , trait , alternate_id
408375038	CV3509484	single nucleotide variant	NM_022552.5(DNMT3A):c.28G>A (p.Gly10Arg)	DNMT3A-related disorder [RCV004747730]	uncertain significance	2	25313957	25313957	Human		name , trait , alternate_id
408373826	CV3512593	single nucleotide variant	NM_022552.5(DNMT3A):c.624A>C (p.Ala208=)	DNMT3A-related disorder [RCV004745714]	likely benign	2	25274956	25274956	Human		name , trait , alternate_id
408373832	CV3512976	single nucleotide variant	NM_022552.5(DNMT3A):c.402T>C (p.Asn134=)	DNMT3A-related disorder [RCV004745766]	likely benign	2	25282487	25282487	Human		name , trait , alternate_id
408373911	CV3513401	single nucleotide variant	NM_022552.5(DNMT3A):c.327G>A (p.Gly109=)	DNMT3A-related disorder [RCV004745841]	likely benign	2	25282562	25282562	Human		name , trait , alternate_id
408374062	CV3514528	single nucleotide variant	NM_022552.5(DNMT3A):c.783G>A (p.Thr261=)	DNMT3A-related disorder [RCV004745985]\|Inborn genetic diseases [RCV004981194]	likely benign	2	25248109	25248109	Human	1	name , trait , alternate_id
408374377	CV3516080	single nucleotide variant	NM_022552.5(DNMT3A):c.417C>T (p.Pro139=)	DNMT3A-related disorder [RCV004746725]	likely benign	2	25282472	25282472	Human		name , trait , alternate_id
597649429	CV3659343	single nucleotide variant	NM_022552.5(DNMT3A):c.972C>T (p.Gly324=)	Inborn genetic diseases [RCV004974374]	likely benign	2	25247633	25247633	Human	1	name
597889164	CV3739351	single nucleotide variant	NM_022552.5(DNMT3A):c.783G>T (p.Thr261=)	Tatton-Brown-Rahman overgrowth syndrome [RCV005070898]	likely benign	2	25248109	25248109	Human	1	name
597899433	CV3740938	single nucleotide variant	NM_022552.5(DNMT3A):c.858C>T (p.Asp286=)	Inborn genetic diseases [RCV005325973]\|Tatton-Brown-Rahman overgrowth syndrome [RCV005072101]	likely benign	2	25247747	25247747	Human	2	name
597949248	CV3772308	single nucleotide variant	NM_022552.5(DNMT3A):c.408C>T (p.Cys136=)	Tatton-Brown-Rahman overgrowth syndrome [RCV005120627]	likely benign	2	25282481	25282481	Human	1	name
597890291	CV3784826	single nucleotide variant	NM_022552.5(DNMT3A):c.780C>T (p.Thr260=)	Tatton-Brown-Rahman overgrowth syndrome [RCV005125605]	likely benign	2	25248112	25248112	Human	1	name
597944009	CV3847813	single nucleotide variant	NM_022552.5(DNMT3A):c.807T>C (p.Ala269=)	Tatton-Brown-Rahman overgrowth syndrome [RCV005188541]	likely benign	2	25248085	25248085	Human	1	name
598164900	CV3964253	single nucleotide variant	NM_022552.5(DNMT3A):c.897A>G (p.Lys299=)	Inborn genetic diseases [RCV005329598]	likely benign	2	25247708	25247708	Human	1	name
598164903	CV3964254	single nucleotide variant	NM_022552.5(DNMT3A):c.705G>A (p.Glu235=)	Inborn genetic diseases [RCV005329599]	likely benign	2	25248187	25248187	Human	1	name
598164943	CV3964262	single nucleotide variant	NM_022552.5(DNMT3A):c.798G>A (p.Gly266=)	Inborn genetic diseases [RCV005329607]	likely benign	2	25248094	25248094	Human	1	name
598164976	CV3964270	single nucleotide variant	NM_022552.5(DNMT3A):c.798G>T (p.Gly266=)	Inborn genetic diseases [RCV005329615]	likely benign	2	25248094	25248094	Human	1	name
598165050	CV3964285	single nucleotide variant	NM_022552.5(DNMT3A):c.726C>T (p.Ala242=)	Inborn genetic diseases [RCV005329630]	likely benign	2	25248166	25248166	Human	1	name
598165079	CV3964291	single nucleotide variant	NM_022552.5(DNMT3A):c.978C>T (p.Arg326=)	Inborn genetic diseases [RCV005329636]	likely benign	2	25247627	25247627	Human	1	name
598165091	CV3964293	single nucleotide variant	NM_022552.5(DNMT3A):c.966T>G (p.Ala322=)	Inborn genetic diseases [RCV005329638]	likely benign	2	25247639	25247639	Human	1	name
598165155	CV3964307	single nucleotide variant	NM_022552.5(DNMT3A):c.699C>G (p.Pro233=)	Inborn genetic diseases [RCV005329652]	likely benign	2	25248193	25248193	Human	1	name
598165176	CV3964311	single nucleotide variant	NM_022552.5(DNMT3A):c.789G>A (p.Glu263=)	Inborn genetic diseases [RCV005329656]	likely benign	2	25248103	25248103	Human	1	name
598165236	CV3964325	single nucleotide variant	NM_022552.5(DNMT3A):c.729C>T (p.Ser243=)	Inborn genetic diseases [RCV005329670]	likely benign	2	25248163	25248163	Human	1	name
13214531	CV428050	single nucleotide variant	NM_022552.5(DNMT3A):c.759C>T (p.Pro253=)	DNMT3A-related disorder [RCV003915372]\|Inborn genetic diseases [RCV004975588]\|Tatton-Brown-Rahman overgrowth syndrome [RCV000652290]\|not provided [RCV001584213]\|not specified [RCV000501387]	benign\|likely benign	2	25248133	25248133	Human	2	name , trait , alternate_id
13492385	CV450758	single nucleotide variant	NM_022552.5(DNMT3A):c.447G>A (p.Ala149=)	Tatton-Brown-Rahman overgrowth syndrome [RCV000534914]	uncertain significance	2	25282442	25282442	Human	1	name
13624454	CV518136	single nucleotide variant	NM_022552.5(DNMT3A):c.801C>T (p.Ser267=)	Inborn genetic diseases [RCV004972825]\|Tatton-Brown-Rahman overgrowth syndrome [RCV000652291]\|not provided [RCV001683624]	benign\|likely benign	2	25248091	25248091	Human	2	name
14706729	CV629756	single nucleotide variant	NM_022552.5(DNMT3A):c.855G>A (p.Glu285=)	Tatton-Brown-Rahman overgrowth syndrome [RCV000792086]\|not provided [RCV002305538]	uncertain significance	2	25248037	25248037	Human	1	name
15123961	CV733375	single nucleotide variant	NM_022552.5(DNMT3A):c.792C>T (p.Pro264=)	Inborn genetic diseases [RCV005328429]\|Tatton-Brown-Rahman overgrowth syndrome [RCV001502320]	likely benign	2	25248100	25248100	Human	2	name
15141921	CV747500	single nucleotide variant	NM_022552.5(DNMT3A):c.774G>C (p.Val258=)	DNMT3A-related disorder [RCV003895607]\|Inborn genetic diseases [RCV005328436]\|not provided [RCV000921921]	likely benign	2	25248118	25248118	Human	1	name , trait , alternate_id
15133896	CV763125	single nucleotide variant	NM_022552.5(DNMT3A):c.852C>T (p.Tyr284=)	Inborn genetic diseases [RCV005328444]\|Tatton-Brown-Rahman overgrowth syndrome [RCV000942648]	likely benign	2	25248040	25248040	Human	2	name
21066913	CV795204	single nucleotide variant	NM_022552.5(DNMT3A):c.58G>A (p.Glu20Lys)	Tatton-Brown-Rahman overgrowth syndrome [RCV005093009]\|not provided [RCV000997084]	uncertain significance	2	25313927	25313927	Human	1	name
40815014	CV970740	single nucleotide variant	NM_022552.5(DNMT3A):c.67C>T (p.Arg23Ter)	Tatton-Brown-Rahman overgrowth syndrome [RCV001262399]	likely benign	2	25313918	25313918	Human	1	name
126744898	CV1016040	single nucleotide variant	NM_022552.5(DNMT3A):c.230C>T (p.Ser77Phe)	Tatton-Brown-Rahman overgrowth syndrome [RCV001330537]	uncertain significance	2	25282659	25282659	Human	1	name
127294107	CV1154097	single nucleotide variant	NM_022552.5(DNMT3A):c.1266G>A (p.Leu422=)	Tatton-Brown-Rahman overgrowth syndrome [RCV001511617]\|not provided [RCV001534983]	benign	2	25246633	25246633	Human	1	name
150408537	CV1176139	single nucleotide variant	NM_022552.5(DNMT3A):c.1344C>T (p.Tyr448=)	DNMT3A-related disorder [RCV003956232]\|Inborn genetic diseases [RCV004980589]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002568961]\|not provided [RCV001545941]	likely benign	2	25246245	25246245	Human	2	name , trait , alternate_id
150413351	CV1189861	single nucleotide variant	NM_022552.5(DNMT3A):c.1194C>T (p.Ala398=)	DNMT3A-related disorder [RCV004746429]\|Inborn genetic diseases [RCV005330892]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002570760]\|not provided [RCV001567167]	likely benign	2	25246705	25246705	Human	2	name , trait , alternate_id
150478804	CV1240563	single nucleotide variant	NM_022552.5(DNMT3A):c.1443C>T (p.Tyr481=)	DNMT3A-related disorder [RCV003968425]\|Inborn genetic diseases [RCV004980617]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002539584]\|not provided [RCV001652438]	benign\|likely benign	2	25246051	25246051	Human	2	name , trait , alternate_id
150461105	CV1253200	insertion	NM_022552.5(DNMT3A):c.639+125_639+126insG	not provided [RCV001669529]	benign	2	25274815	25274816	Human		name
150533890	CV1305992	single nucleotide variant	NM_022552.5(DNMT3A):c.2601A>C (p.Val867=)	Inborn genetic diseases [RCV004980677]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003746602]\|not provided [RCV001755395]	likely benign	2	25234417	25234417	Human	2	name
150535821	CV1307118	single nucleotide variant	NM_022552.5(DNMT3A):c.233T>C (p.Met78Thr)	Inborn genetic diseases [RCV004980679]\|Tatton-Brown-Rahman overgrowth syndrome [RCV005095073]\|not provided [RCV001759173]	uncertain significance	2	25282656	25282656	Human	2	name
151353895	CV1327447	single nucleotide variant	NM_022552.5(DNMT3A):c.2145C>T (p.Ile715=)	Inborn genetic diseases [RCV005330917]\|not specified [RCV001817391]	likely benign\|uncertain significance	2	25240668	25240668	Human	1	name
151662538	CV1333183	single nucleotide variant	NM_022552.5(DNMT3A):c.113G>A (p.Arg38His)	DNMT3A-related disorder [RCV003416488]\|Tatton-Brown-Rahman overgrowth syndrome [RCV001837416]	uncertain significance	2	25300203	25300203	Human	1	name , trait , alternate_id
151712425	CV1334422	single nucleotide variant	NM_022552.5(DNMT3A):c.149G>A (p.Arg50Gln)	not provided [RCV001840896]	uncertain significance	2	25300167	25300167	Human		name
8688713	CV137722	single nucleotide variant	NM_022552.5(DNMT3A):c.131C>T (p.Thr44Met)	DNMT3A-related disorder [RCV003407510]\|Tatton-Brown-Rahman overgrowth syndrome [RCV000700793]\|not specified [RCV000120652]	likely benign\|uncertain significance\|not provided	2	25300185	25300185	Human	1	name , trait , alternate_id
151738850	CV1428882	single nucleotide variant	NM_022552.5(DNMT3A):c.287G>A (p.Arg96Gln)	Acute myeloid leukemia [RCV005017001]\|DNMT3A-related disorder [RCV004746563]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002022118]	uncertain significance	2	25282602	25282602	Human	4	name , trait , alternate_id
152164165	CV1543451	single nucleotide variant	NM_022552.5(DNMT3A):c.2659A>C (p.Arg887=)	Inborn genetic diseases [RCV004973337]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002123748]	likely benign	2	25234359	25234359	Human	2	name
152054988	CV1581996	single nucleotide variant	NM_022552.5(DNMT3A):c.1074G>T (p.Thr358=)	Inborn genetic diseases [RCV005333145]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002089597]	likely benign	2	25247099	25247099	Human	2	name
152047797	CV1591438	single nucleotide variant	NM_022552.5(DNMT3A):c.2538G>A (p.Gln846=)	Tatton-Brown-Rahman overgrowth syndrome [RCV002189029]	likely benign	2	25235766	25235766	Human	1	name
153348628	CV1692672	single nucleotide variant	NM_022552.5(DNMT3A):c.289A>C (p.Ser97Arg)	not provided [RCV002274527]	uncertain significance	2	25282600	25282600	Human		name
153349655	CV1693764	single nucleotide variant	NM_022552.5(DNMT3A):c.1929C>T (p.Ile643=)	Inborn genetic diseases [RCV004973396]\|not provided [RCV002276071]	likely benign	2	25243905	25243905	Human	1	name
153348043	CV1695092	single nucleotide variant	NM_022552.5(DNMT3A):c.265C>T (p.Pro89Ser)	Tatton-Brown-Rahman overgrowth syndrome [RCV003746613]\|not provided [RCV002279023]	uncertain significance	2	25282624	25282624	Human	1	name
155714692	CV1780332	single nucleotide variant	NM_022552.5(DNMT3A):c.206C>T (p.Pro69Leu)	not provided [RCV002305936]	uncertain significance	2	25282683	25282683	Human		name
155799521	CV1862525	single nucleotide variant	NM_022552.5(DNMT3A):c.148C>T (p.Arg50Trp)	Tatton-Brown-Rahman overgrowth syndrome [RCV002471932]	uncertain significance	2	25300168	25300168	Human	1	name
156189466	CV1867289	single nucleotide variant	NM_022552.5(DNMT3A):c.1935A>T (p.Thr645=)	not provided [RCV002508991]	not provided	2	25243899	25243899	Human		name
156378998	CV1876791	single nucleotide variant	NM_022552.5(DNMT3A):c.2181T>C (p.Thr727=)	DNMT3A-related disorder [RCV004747190]\|Inborn genetic diseases [RCV005333462]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003067000]	likely benign	2	25240443	25240443	Human	2	name , trait , alternate_id
156406998	CV1878541	single nucleotide variant	NM_022552.5(DNMT3A):c.1305G>A (p.Val435=)	Tatton-Brown-Rahman overgrowth syndrome [RCV003070687]	likely benign	2	25246284	25246284	Human	1	name
156403574	CV1885838	single nucleotide variant	NM_022552.5(DNMT3A):c.1587C>T (p.Asp529=)	Inborn genetic diseases [RCV004978559]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003069503]	likely benign	2	25244620	25244620	Human	2	name
156411655	CV1889493	single nucleotide variant	NM_022552.5(DNMT3A):c.209C>T (p.Ala70Val)	DNMT3A-related disorder [RCV004747198]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003072568]\|not provided [RCV003427560]	uncertain significance	2	25282680	25282680	Human	1	name , trait , alternate_id
156152854	CV1896070	single nucleotide variant	NM_022552.5(DNMT3A):c.1776C>T (p.Tyr592=)	Inborn genetic diseases [RCV005333488]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003082609]	likely benign	2	25244230	25244230	Human	2	name
156361071	CV1898956	single nucleotide variant	NM_022552.5(DNMT3A):c.128C>T (p.Thr43Ile)	Tatton-Brown-Rahman overgrowth syndrome [RCV003091713]	uncertain significance	2	25300188	25300188	Human	1	name
156019924	CV1909428	single nucleotide variant	NM_022552.5(DNMT3A):c.1059G>A (p.Ala353=)	Inborn genetic diseases [RCV005333521]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002619343]	likely benign	2	25247114	25247114	Human	2	name
156417731	CV1910044	single nucleotide variant	NM_022552.5(DNMT3A):c.2211C>G (p.Leu737=)	Inborn genetic diseases [RCV004978656]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002610894]	likely benign	2	25240413	25240413	Human	2	name
156303581	CV1916250	single nucleotide variant	NM_022552.5(DNMT3A):c.1611C>T (p.Cys537=)	DNMT3A-related disorder [RCV004725541]\|Inborn genetic diseases [RCV004978642]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002599291]\|not provided [RCV003883882]	likely benign	2	25244596	25244596	Human	2	name , trait , alternate_id
156371110	CV1920259	single nucleotide variant	NM_022552.5(DNMT3A):c.1110C>T (p.Tyr370=)	DNMT3A-related disorder [RCV003898841]\|Inborn genetic diseases [RCV004978650]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002603182]\|not provided [RCV003883884]	likely benign	2	25247063	25247063	Human	2	name , trait , alternate_id
156032912	CV1921211	single nucleotide variant	NM_022552.5(DNMT3A):c.1989G>A (p.Ser663=)	Inborn genetic diseases [RCV005333527]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002619931]	likely benign	2	25241655	25241655	Human	2	name
156179711	CV1924413	single nucleotide variant	NM_022552.5(DNMT3A):c.1242C>T (p.Phe414=)	DNMT3A-related disorder [RCV003898900]\|Inborn genetic diseases [RCV004978725]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002624998]	likely benign	2	25246657	25246657	Human	2	name , trait , alternate_id
156308443	CV1928140	single nucleotide variant	NM_022552.5(DNMT3A):c.1593C>T (p.Asp531=)	DNMT3A-related disorder [RCV004747231]\|Inborn genetic diseases [RCV004978741]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002648017]	likely benign	2	25244614	25244614	Human	2	name , trait , alternate_id
156419394	CV1932744	single nucleotide variant	NM_022552.5(DNMT3A):c.250G>A (p.Ala84Thr)	DNMT3A-related disorder [RCV004747221]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002612626]	uncertain significance	2	25282639	25282639	Human	1	name , trait , alternate_id
156448937	CV1948247	single nucleotide variant	NM_022552.5(DNMT3A):c.1899C>T (p.Pro633=)	DNMT3A-related disorder [RCV004747263]\|Inborn genetic diseases [RCV004978756]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003121044]	likely benign	2	25243935	25243935	Human	2	name , trait , alternate_id
156407106	CV1963906	single nucleotide variant	NM_022552.5(DNMT3A):c.248G>A (p.Gly83Asp)	Tatton-Brown-Rahman overgrowth syndrome [RCV002586123]	uncertain significance	2	25282641	25282641	Human	1	name
156147524	CV1963924	single nucleotide variant	NM_022552.5(DNMT3A):c.185G>A (p.Ser62Asn)	Tatton-Brown-Rahman overgrowth syndrome [RCV002572791]	uncertain significance	2	25282704	25282704	Human	1	name
156327531	CV1982299	single nucleotide variant	NM_022552.5(DNMT3A):c.2013G>A (p.Thr671=)	DNMT3A-related disorder [RCV004725336]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002649640]	likely benign	2	25241631	25241631	Human	1	name , trait , alternate_id
155997461	CV1986980	single nucleotide variant	NM_022552.5(DNMT3A):c.2412G>C (p.Pro804=)	Inborn genetic diseases [RCV005333280]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002618293]	likely benign	2	25237002	25237002	Human	2	name
155923880	CV1987647	single nucleotide variant	NM_022552.5(DNMT3A):c.1149G>A (p.Leu383=)	DNMT3A-related disorder [RCV004747100]\|Inborn genetic diseases [RCV005333286]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002614682]	likely benign	2	25246750	25246750	Human	2	name , trait , alternate_id
156136571	CV2006409	single nucleotide variant	NM_022552.5(DNMT3A):c.2067C>T (p.Ser689=)	Tatton-Brown-Rahman overgrowth syndrome [RCV002663412]	likely benign	2	25241577	25241577	Human	1	name
156322000	CV2014611	single nucleotide variant	NM_022552.5(DNMT3A):c.1758C>T (p.Cys586=)	Inborn genetic diseases [RCV004973564]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002672260]	likely benign	2	25244248	25244248	Human	2	name
156005742	CV2015014	single nucleotide variant	NM_022552.5(DNMT3A):c.1140G>C (p.Ala380=)	DNMT3A-related disorder [RCV003973465]\|Inborn genetic diseases [RCV004973567]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002690262]	likely benign	2	25246759	25246759	Human	2	name , trait , alternate_id
156116135	CV2016933	single nucleotide variant	NM_022552.5(DNMT3A):c.1581G>A (p.Gln527=)	Tatton-Brown-Rahman overgrowth syndrome [RCV002740020]	likely benign	2	25244626	25244626	Human	1	name
156120833	CV2039856	single nucleotide variant	NM_022552.5(DNMT3A):c.1231C>T (p.Leu411=)	Inborn genetic diseases [RCV005333343]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002785784]	likely benign	2	25246668	25246668	Human	2	name
156282625	CV2071223	single nucleotide variant	NM_022552.5(DNMT3A):c.1143G>A (p.Gly381=)	Inborn genetic diseases [RCV005333357]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002856439]\|not provided [RCV003491155]	likely benign\|uncertain significance	2	25246756	25246756	Human	2	name
156080978	CV2083681	single nucleotide variant	NM_022552.5(DNMT3A):c.2412G>A (p.Pro804=)	DNMT3A-related disorder [RCV003973502]\|Inborn genetic diseases [RCV004973668]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002847383]	likely benign	2	25237002	25237002	Human	2	name , trait , alternate_id
156014704	CV2086898	single nucleotide variant	NM_022552.5(DNMT3A):c.2115T>C (p.Ile705=)	Inborn genetic diseases [RCV005333361]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002866291]	likely benign	2	25240698	25240698	Human	2	name
156331445	CV2094835	single nucleotide variant	NM_022552.5(DNMT3A):c.1827C>T (p.Phe609=)	Inborn genetic diseases [RCV004973684]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002899948]\|not provided [RCV005242281]	likely benign	2	25244179	25244179	Human	2	name
156155419	CV2098699	single nucleotide variant	NM_022552.5(DNMT3A):c.269A>G (p.Asn90Ser)	Tatton-Brown-Rahman overgrowth syndrome [RCV002890795]	uncertain significance	2	25282620	25282620	Human	1	name
156191654	CV2099014	single nucleotide variant	NM_022552.5(DNMT3A):c.1047G>A (p.Ser349=)	Inborn genetic diseases [RCV005333372]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002917468]	likely benign	2	25247126	25247126	Human	2	name
156023243	CV2105903	single nucleotide variant	NM_022552.5(DNMT3A):c.2373C>T (p.Ala791=)	Tatton-Brown-Rahman overgrowth syndrome [RCV002923170]	likely benign	2	25239165	25239165	Human	1	name
156311038	CV2107468	single nucleotide variant	NM_022552.5(DNMT3A):c.2643C>T (p.Ser881=)	Inborn genetic diseases [RCV005333383]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002937165]	likely benign	2	25234375	25234375	Human	2	name
156032766	CV2117742	single nucleotide variant	NM_022552.5(DNMT3A):c.2682C>T (p.Ser894=)	DNMT3A-related disorder [RCV003906369]\|Inborn genetic diseases [RCV004973754]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002923587]	likely benign	2	25234336	25234336	Human	2	name , trait , alternate_id
156211195	CV2117746	single nucleotide variant	NM_022552.5(DNMT3A):c.113G>T (p.Arg38Leu)	Tatton-Brown-Rahman overgrowth syndrome [RCV002957751]	uncertain significance	2	25300203	25300203	Human	1	name
156349273	CV2125367	single nucleotide variant	NM_022552.5(DNMT3A):c.1956C>T (p.Asp652=)	DNMT3A-related disorder [RCV004747161]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002966173]	likely benign	2	25241688	25241688	Human	1	name , trait , alternate_id
156161867	CV2136854	single nucleotide variant	NM_022552.5(DNMT3A):c.2647T>C (p.Leu883=)	Inborn genetic diseases [RCV005333421]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003005093]	likely benign	2	25234371	25234371	Human	2	name
156263761	CV2138820	single nucleotide variant	NM_022552.5(DNMT3A):c.1545A>G (p.Gln515=)	DNMT3A-related disorder [RCV004747169]\|Inborn genetic diseases [RCV004978432]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002988563]	likely benign	2	25245262	25245262	Human	2	name , trait , alternate_id
155994909	CV2171508	single nucleotide variant	NM_022552.5(DNMT3A):c.232A>G (p.Met78Val)	Tatton-Brown-Rahman overgrowth syndrome [RCV003034500]	uncertain significance	2	25282657	25282657	Human	1	name
156331410	CV2171825	single nucleotide variant	NM_022552.5(DNMT3A):c.2730G>A (p.Ala910=)	Tatton-Brown-Rahman overgrowth syndrome [RCV003029789]	likely benign	2	25234288	25234288	Human	1	name
156123558	CV2179679	single nucleotide variant	NM_022552.5(DNMT3A):c.1116C>T (p.Val372=)	Inborn genetic diseases [RCV005333435]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003039414]	likely benign	2	25247057	25247057	Human	2	name
329352929	CV2476783	single nucleotide variant	NM_022552.5(DNMT3A):c.203A>G (p.Asp68Gly)	not provided [RCV003223015]	uncertain significance	2	25282686	25282686	Human		name
401798767	CV2742561	single nucleotide variant	NM_022552.5(DNMT3A):c.1935A>G (p.Thr645=)	not provided [RCV003325005]	uncertain significance	2	25243899	25243899	Human		name
401912054	CV2796043	single nucleotide variant	NM_022552.5(DNMT3A):c.164G>A (p.Arg55His)	DNMT3A-related disorder [RCV003399739]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003585389]	uncertain significance	2	25300152	25300152	Human	1	name , trait , alternate_id
401910885	CV2815584	single nucleotide variant	NM_022552.5(DNMT3A):c.1152C>T (p.Phe384=)	Inborn genetic diseases [RCV005333604]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003585393]\|not provided [RCV003425531]	likely benign	2	25246747	25246747	Human	2	name
401917398	CV2829842	single nucleotide variant	NM_022552.5(DNMT3A):c.163C>T (p.Arg55Cys)	not provided [RCV003443886]	uncertain significance	2	25300153	25300153	Human		name
405149828	CV2878796	single nucleotide variant	NM_022552.5(DNMT3A):c.120G>T (p.Glu40Asp)	Tatton-Brown-Rahman overgrowth syndrome [RCV003585552]	uncertain significance	2	25300196	25300196	Human	1	name
405140388	CV2882446	single nucleotide variant	NM_022552.5(DNMT3A):c.1716C>G (p.Ala572=)	DNMT3A-related disorder [RCV003901172]\|Inborn genetic diseases [RCV004980874]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003584058]	likely benign	2	25244290	25244290	Human	2	name , trait , alternate_id
405140819	CV2883414	single nucleotide variant	NM_022552.5(DNMT3A):c.112C>T (p.Arg38Cys)	Tatton-Brown-Rahman overgrowth syndrome [RCV003584095]	uncertain significance	2	25300204	25300204	Human	1	name
405150624	CV2888305	single nucleotide variant	NM_022552.5(DNMT3A):c.2037G>C (p.Gly679=)	DNMT3A-related disorder [RCV004747312]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003585621]	likely benign	2	25241607	25241607	Human	1	name , trait , alternate_id
405141320	CV2900101	single nucleotide variant	NM_022552.5(DNMT3A):c.1395C>T (p.Pro465=)	Tatton-Brown-Rahman overgrowth syndrome [RCV003584149]	likely benign	2	25246194	25246194	Human	1	name
405141463	CV2903333	single nucleotide variant	NM_022552.5(DNMT3A):c.1521C>T (p.Pro507=)	Inborn genetic diseases [RCV005333626]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003584163]	likely benign	2	25245286	25245286	Human	2	name
405143952	CV2909598	single nucleotide variant	NM_022552.5(DNMT3A):c.2703C>G (p.Leu901=)	Tatton-Brown-Rahman overgrowth syndrome [RCV003584264]	likely benign	2	25234315	25234315	Human	1	name
405248823	CV2974105	single nucleotide variant	NM_022552.5(DNMT3A):c.296C>T (p.Pro99Leu)	Tatton-Brown-Rahman overgrowth syndrome [RCV003746922]	uncertain significance	2	25282593	25282593	Human	1	name
405250122	CV3012474	single nucleotide variant	NM_022552.5(DNMT3A):c.194C>T (p.Thr65Met)	Tatton-Brown-Rahman overgrowth syndrome [RCV003747415]	uncertain significance	2	25282695	25282695	Human	1	name
405246480	CV3013241	single nucleotide variant	NM_022552.5(DNMT3A):c.158G>A (p.Arg53Lys)	Tatton-Brown-Rahman overgrowth syndrome [RCV003746011]	uncertain significance	2	25300158	25300158	Human	1	name
405247077	CV3023690	single nucleotide variant	NM_022552.5(DNMT3A):c.1245G>A (p.Gln415=)	Tatton-Brown-Rahman overgrowth syndrome [RCV003746228]	likely benign	2	25246654	25246654	Human	1	name
405247497	CV3046677	single nucleotide variant	NM_022552.5(DNMT3A):c.1383A>G (p.Thr461=)	Inborn genetic diseases [RCV004980954]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003746393]	likely benign	2	25246206	25246206	Human	2	name
405247545	CV3047057	single nucleotide variant	NM_022552.5(DNMT3A):c.2310G>A (p.Ser770=)	Inborn genetic diseases [RCV004980962]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003746412]	likely benign	2	25240314	25240314	Human	2	name
405250301	CV3057414	single nucleotide variant	NM_022552.5(DNMT3A):c.1584C>T (p.Tyr528=)	Inborn genetic diseases [RCV005325798]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003747468]	likely benign	2	25244623	25244623	Human	2	name
405250407	CV3062302	single nucleotide variant	NM_022552.5(DNMT3A):c.1632T>G (p.Arg544=)	Inborn genetic diseases [RCV005325809]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003747514]	likely benign	2	25244575	25244575	Human	2	name
405250344	CV3064525	single nucleotide variant	NM_022552.5(DNMT3A):c.1854C>T (p.Asp618=)	Inborn genetic diseases [RCV005325802]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003747486]	likely benign	2	25243980	25243980	Human	2	name
405250776	CV3072243	single nucleotide variant	NM_022552.5(DNMT3A):c.2738A>G (p.Ter913=)	Tatton-Brown-Rahman overgrowth syndrome [RCV003747641]	likely benign	2	25234280	25234280	Human	1	name
405250762	CV3072254	single nucleotide variant	NM_022552.5(DNMT3A):c.2622T>C (p.Tyr874=)	Tatton-Brown-Rahman overgrowth syndrome [RCV003747643]	likely benign	2	25234396	25234396	Human	1	name
405161324	CV3125003	single nucleotide variant	NM_022552.5(DNMT3A):c.1137C>T (p.Arg379=)	Inborn genetic diseases [RCV005325832]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003818274]	likely benign	2	25246762	25246762	Human	2	name
405239804	CV3166022	single nucleotide variant	NM_022552.5(DNMT3A):c.1311G>A (p.Thr437=)	DNMT3A-related disorder [RCV004747395]\|Inborn genetic diseases [RCV005325873]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003867034]	likely benign	2	25246278	25246278	Human	2	name , trait , alternate_id
405252362	CV3177929	single nucleotide variant	NM_022552.5(DNMT3A):c.1860A>G (p.Pro620=)	Inborn genetic diseases [RCV004981117]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003870709]	likely benign	2	25243974	25243974	Human	2	name
402503467	CV3181068	single nucleotide variant	NM_022552.5(DNMT3A):c.1596C>A (p.Gly532=)	Tatton-Brown-Rahman overgrowth syndrome [RCV003878085]	likely benign	2	25244611	25244611	Human	1	name
405259650	CV3195147	single nucleotide variant	NM_022552.5(DNMT3A):c.1590C>T (p.Asp530=)	DNMT3A-related disorder [RCV003894344]\|Inborn genetic diseases [RCV004981138]	likely benign	2	25244617	25244617	Human	1	name , trait , alternate_id
405265047	CV3201475	single nucleotide variant	NM_022552.5(DNMT3A):c.2625T>C (p.Thr875=)	DNMT3A-related disorder [RCV003897233]\|Inborn genetic diseases [RCV005325887]\|Tatton-Brown-Rahman overgrowth syndrome [RCV005101578]	likely benign	2	25234393	25234393	Human	2	name , trait , alternate_id
405271866	CV3203024	single nucleotide variant	NM_022552.5(DNMT3A):c.2103C>T (p.Phe701=)	DNMT3A-related disorder [RCV003914076]\|Inborn genetic diseases [RCV004981142]	likely benign	2	25240710	25240710	Human	1	name , trait , alternate_id
405294020	CV3203395	single nucleotide variant	NM_022552.5(DNMT3A):c.1041G>A (p.Leu347=)	DNMT3A-related disorder [RCV003933941]\|Inborn genetic diseases [RCV004981145]	likely benign	2	25247132	25247132	Human	1	name , trait , alternate_id
407502747	CV3495710	deletion	NM_022552.5(DNMT3A):c.417del (p.Lys140fs)	not provided [RCV004697550]	pathogenic	2	25282472	25282472	Human		name
408382414	CV3504484	single nucleotide variant	NM_022552.5(DNMT3A):c.2055G>A (p.Gly685=)	DNMT3A-related disorder [RCV004729798]\|Inborn genetic diseases [RCV005325913]\|Tatton-Brown-Rahman overgrowth syndrome [RCV005103632]	likely benign	2	25241589	25241589	Human	2	name , trait , alternate_id
408379463	CV3506989	single nucleotide variant	NM_022552.5(DNMT3A):c.1386G>A (p.Ala462=)	DNMT3A-related disorder [RCV004728469]\|Inborn genetic diseases [RCV005325916]	likely benign	2	25246203	25246203	Human	1	name , trait , alternate_id
408379507	CV3507037	deletion	NM_022552.5(DNMT3A):c.940del (p.Trp314fs)	DNMT3A-related disorder [RCV004728498]	likely pathogenic	2	25247665	25247665	Human		name , trait , alternate_id
408374780	CV3507214	single nucleotide variant	NM_022552.5(DNMT3A):c.1440G>A (p.Val480=)	DNMT3A-related disorder [RCV004747455]	likely benign	2	25246054	25246054	Human		name , trait , alternate_id
408374766	CV3507252	single nucleotide variant	NM_022552.5(DNMT3A):c.2016G>T (p.Val672=)	DNMT3A-related disorder [RCV004747462]	likely benign	2	25241628	25241628	Human		name , trait , alternate_id
408374777	CV3507481	single nucleotide variant	NM_022552.5(DNMT3A):c.2388T>G (p.Gly796=)	DNMT3A-related disorder [RCV004747488]	likely benign	2	25239150	25239150	Human		name , trait , alternate_id
408373730	CV3511822	single nucleotide variant	NM_022552.5(DNMT3A):c.1707G>A (p.Pro569=)	DNMT3A-related disorder [RCV004745652]\|Inborn genetic diseases [RCV005325919]\|Tatton-Brown-Rahman overgrowth syndrome [RCV005103775]	likely benign	2	25244299	25244299	Human	2	name , trait , alternate_id
408373783	CV3512603	single nucleotide variant	NM_022552.5(DNMT3A):c.2340T>C (p.Ile780=)	DNMT3A-related disorder [RCV004745717]	likely benign	2	25239198	25239198	Human		name , trait , alternate_id
408373800	CV3512752	single nucleotide variant	NM_022552.5(DNMT3A):c.2427G>T (p.Val809=)	DNMT3A-related disorder [RCV004745734]	likely benign	2	25236987	25236987	Human		name , trait , alternate_id
408373856	CV3513115	single nucleotide variant	NM_022552.5(DNMT3A):c.1785G>C (p.Leu595=)	DNMT3A-related disorder [RCV004745791]	likely benign	2	25244221	25244221	Human		name , trait , alternate_id
408373884	CV3513281	single nucleotide variant	NM_022552.5(DNMT3A):c.235G>A (p.Ala79Thr)	DNMT3A-related disorder [RCV004745817]	uncertain significance	2	25282654	25282654	Human		name , trait , alternate_id
408373938	CV3513325	single nucleotide variant	NM_022552.5(DNMT3A):c.2358A>C (p.Ser786=)	DNMT3A-related disorder [RCV004745828]	likely benign	2	25239180	25239180	Human		name , trait , alternate_id
408373912	CV3513408	single nucleotide variant	NM_022552.5(DNMT3A):c.2100A>T (p.Pro700=)	DNMT3A-related disorder [RCV004745842]\|Inborn genetic diseases [RCV005325921]	likely benign	2	25240713	25240713	Human	1	name , trait , alternate_id
408373946	CV3513661	single nucleotide variant	NM_022552.5(DNMT3A):c.2343T>C (p.Asp781=)	DNMT3A-related disorder [RCV004745873]	likely benign	2	25239195	25239195	Human		name , trait , alternate_id
408373965	CV3513809	single nucleotide variant	NM_022552.5(DNMT3A):c.2040G>A (p.Lys680=)	DNMT3A-related disorder [RCV004745892]	likely benign	2	25241604	25241604	Human		name , trait , alternate_id
408374220	CV3515232	single nucleotide variant	NM_022552.5(DNMT3A):c.1500C>T (p.Leu500=)	DNMT3A-related disorder [RCV004746095]	likely benign	2	25245307	25245307	Human		name , trait , alternate_id
408374242	CV3515346	single nucleotide variant	NM_022552.5(DNMT3A):c.1476C>T (p.Asp492=)	DNMT3A-related disorder [RCV004746115]	likely benign	2	25245331	25245331	Human		name , trait , alternate_id
408374603	CV3517482	single nucleotide variant	NM_022552.5(DNMT3A):c.2208C>T (p.Arg736=)	DNMT3A-related disorder [RCV004746936]	likely benign	2	25240416	25240416	Human		name , trait , alternate_id
596948102	CV3547697	single nucleotide variant	NM_022552.5(DNMT3A):c.1488C>T (p.Ser496=)	not provided [RCV004812002]	likely benign	2	25245319	25245319	Human		name
597649368	CV3659333	single nucleotide variant	NM_022552.5(DNMT3A):c.1287G>A (p.Lys429=)	Inborn genetic diseases [RCV004974364]	likely benign	2	25246302	25246302	Human	1	name
597649380	CV3659335	single nucleotide variant	NM_022552.5(DNMT3A):c.1080C>T (p.Asn360=)	Inborn genetic diseases [RCV004974366]	likely benign	2	25247093	25247093	Human	1	name
597649392	CV3659337	single nucleotide variant	NM_022552.5(DNMT3A):c.1626G>T (p.Gly542=)	Inborn genetic diseases [RCV004974368]	likely benign	2	25244581	25244581	Human	1	name
597649404	CV3659339	single nucleotide variant	NM_022552.5(DNMT3A):c.1812G>A (p.Arg604=)	Inborn genetic diseases [RCV004974370]	likely benign	2	25244194	25244194	Human	1	name
597649444	CV3659345	single nucleotide variant	NM_022552.5(DNMT3A):c.2706C>T (p.Phe902=)	Inborn genetic diseases [RCV004974376]	likely benign	2	25234312	25234312	Human	1	name
597649453	CV3659346	single nucleotide variant	NM_022552.5(DNMT3A):c.2631C>T (p.Val877=)	Inborn genetic diseases [RCV004974377]	likely benign	2	25234387	25234387	Human	1	name
597649462	CV3659348	single nucleotide variant	NM_022552.5(DNMT3A):c.1911G>A (p.Leu637=)	Inborn genetic diseases [RCV004974379]	likely benign	2	25243923	25243923	Human	1	name
597649475	CV3659350	single nucleotide variant	NM_022552.5(DNMT3A):c.1839C>T (p.His613=)	Inborn genetic diseases [RCV004974381]	likely benign	2	25244167	25244167	Human	1	name
597649488	CV3659352	single nucleotide variant	NM_022552.5(DNMT3A):c.1239C>T (p.Gly413=)	Inborn genetic diseases [RCV004974383]	likely benign	2	25246660	25246660	Human	1	name
597649495	CV3659353	single nucleotide variant	NM_022552.5(DNMT3A):c.1527C>T (p.Phe509=)	Inborn genetic diseases [RCV004974384]	likely benign	2	25245280	25245280	Human	1	name
597649500	CV3659354	single nucleotide variant	NM_022552.5(DNMT3A):c.2397C>T (p.Pro799=)	Inborn genetic diseases [RCV004974385]	likely benign	2	25239141	25239141	Human	1	name
597649506	CV3659356	single nucleotide variant	NM_022552.5(DNMT3A):c.1716C>T (p.Ala572=)	Inborn genetic diseases [RCV004974386]	likely benign	2	25244290	25244290	Human	1	name
597649521	CV3659358	single nucleotide variant	NM_022552.5(DNMT3A):c.1413T>C (p.Ile471=)	Inborn genetic diseases [RCV004974388]	likely benign	2	25246176	25246176	Human	1	name
597649534	CV3659360	single nucleotide variant	NM_022552.5(DNMT3A):c.1809C>T (p.Ser603=)	Inborn genetic diseases [RCV004974390]	likely benign	2	25244197	25244197	Human	1	name
597958386	CV3751844	single nucleotide variant	NM_022552.5(DNMT3A):c.2418A>G (p.Ala806=)	Tatton-Brown-Rahman overgrowth syndrome [RCV005080973]	likely benign	2	25236996	25236996	Human	1	name
597894901	CV3773375	single nucleotide variant	NM_022552.5(DNMT3A):c.1233G>T (p.Leu411=)	Inborn genetic diseases [RCV005325995]\|Tatton-Brown-Rahman overgrowth syndrome [RCV005111282]	likely benign	2	25246666	25246666	Human	2	name
597916274	CV3779342	single nucleotide variant	NM_022552.5(DNMT3A):c.1293C>T (p.Pro431=)	Tatton-Brown-Rahman overgrowth syndrome [RCV005129483]	likely benign	2	25246296	25246296	Human	1	name
597946513	CV3790149	single nucleotide variant	NM_022552.5(DNMT3A):c.1569G>A (p.Glu523=)	Tatton-Brown-Rahman overgrowth syndrome [RCV005134850]	likely benign	2	25244638	25244638	Human	1	name
597954648	CV3795823	single nucleotide variant	NM_022552.5(DNMT3A):c.2058C>T (p.Asp686=)	Tatton-Brown-Rahman overgrowth syndrome [RCV005136833]	likely benign	2	25241586	25241586	Human	1	name
597863208	CV3813995	single nucleotide variant	NM_022552.5(DNMT3A):c.1017G>A (p.Val339=)	Inborn genetic diseases [RCV005326019]\|Tatton-Brown-Rahman overgrowth syndrome [RCV005147064]	likely benign	2	25247156	25247156	Human	2	name
597968268	CV3820879	single nucleotide variant	NM_022552.5(DNMT3A):c.1713T>G (p.Ala571=)	Inborn genetic diseases [RCV005326030]\|Tatton-Brown-Rahman overgrowth syndrome [RCV005165720]	likely benign	2	25244293	25244293	Human	2	name
597838460	CV3824814	single nucleotide variant	NM_022552.5(DNMT3A):c.1029G>A (p.Lys343=)	Tatton-Brown-Rahman overgrowth syndrome [RCV005171678]	uncertain significance	2	25247144	25247144	Human	1	name
597894001	CV3833516	single nucleotide variant	NM_022552.5(DNMT3A):c.2172C>T (p.Tyr724=)	Inborn genetic diseases [RCV005326037]\|Tatton-Brown-Rahman overgrowth syndrome [RCV005180208]	likely benign\|uncertain significance	2	25240641	25240641	Human	2	name
597886980	CV3838979	single nucleotide variant	NM_022552.5(DNMT3A):c.1780C>T (p.Leu594=)	Inborn genetic diseases [RCV005326041]\|Tatton-Brown-Rahman overgrowth syndrome [RCV005179064]	likely benign	2	25244226	25244226	Human	2	name
597922314	CV3843228	single nucleotide variant	NM_022552.5(DNMT3A):c.2505G>A (p.Thr835=)	Inborn genetic diseases [RCV005326045]\|Tatton-Brown-Rahman overgrowth syndrome [RCV005184520]	likely benign	2	25235799	25235799	Human	2	name
597953442	CV3843984	single nucleotide variant	NM_022552.5(DNMT3A):c.1845G>A (p.Gln615=)	Tatton-Brown-Rahman overgrowth syndrome [RCV005190846]	likely benign	2	25244161	25244161	Human	1	name
597965885	CV3845046	single nucleotide variant	NM_022552.5(DNMT3A):c.2460G>A (p.Glu820=)	Tatton-Brown-Rahman overgrowth syndrome [RCV005194374]	likely benign	2	25236954	25236954	Human	1	name
597871465	CV3849326	single nucleotide variant	NM_022552.5(DNMT3A):c.1647C>T (p.Cys549=)	Tatton-Brown-Rahman overgrowth syndrome [RCV005197507]	likely benign	2	25244560	25244560	Human	1	name
597926402	CV3855361	single nucleotide variant	NM_022552.5(DNMT3A):c.2154T>G (p.Pro718=)	Tatton-Brown-Rahman overgrowth syndrome [RCV005205960]	likely benign	2	25240659	25240659	Human	1	name
597892572	CV3856743	single nucleotide variant	NM_022552.5(DNMT3A):c.191A>T (p.Asp64Val)	Tatton-Brown-Rahman overgrowth syndrome [RCV005200811]	uncertain significance	2	25282698	25282698	Human	1	name
597887333	CV3859291	single nucleotide variant	NM_022552.5(DNMT3A):c.175C>T (p.Pro59Ser)	Tatton-Brown-Rahman overgrowth syndrome [RCV005199944]	uncertain significance	2	25300141	25300141	Human	1	name
597863000	CV3860635	single nucleotide variant	NM_022552.5(DNMT3A):c.1023T>C (p.Val341=)	Tatton-Brown-Rahman overgrowth syndrome [RCV005196163]	likely benign	2	25247150	25247150	Human	1	name
597863825	CV3860778	deletion	NM_022552.5(DNMT3A):c.761del (p.Ala254fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV005196306]	pathogenic	2	25248131	25248131	Human	1	name
598175886	CV3891059	single nucleotide variant	NM_022552.5(DNMT3A):c.257A>G (p.Glu86Gly)	not provided [RCV005251912]	uncertain significance	2	25282632	25282632	Human		name
598164873	CV3964247	single nucleotide variant	NM_022552.5(DNMT3A):c.2121C>A (p.Gly707=)	Inborn genetic diseases [RCV005329592]	likely benign	2	25240692	25240692	Human	1	name
598164886	CV3964250	single nucleotide variant	NM_022552.5(DNMT3A):c.2676A>T (p.Ser892=)	Inborn genetic diseases [RCV005329595]	likely benign	2	25234342	25234342	Human	1	name
598164890	CV3964251	single nucleotide variant	NM_022552.5(DNMT3A):c.1518C>T (p.His506=)	Inborn genetic diseases [RCV005329596]	likely benign	2	25245289	25245289	Human	1	name
598164907	CV3964255	single nucleotide variant	NM_022552.5(DNMT3A):c.1710G>A (p.Gly570=)	Inborn genetic diseases [RCV005329600]	likely benign	2	25244296	25244296	Human	1	name
598164912	CV3964256	single nucleotide variant	NM_022552.5(DNMT3A):c.2190C>T (p.Leu730=)	Inborn genetic diseases [RCV005329601]	likely benign	2	25240434	25240434	Human	1	name
598164924	CV3964258	single nucleotide variant	NM_022552.5(DNMT3A):c.1695C>T (p.Leu565=)	Inborn genetic diseases [RCV005329603]	likely benign	2	25244311	25244311	Human	1	name
598164929	CV3964259	single nucleotide variant	NM_022552.5(DNMT3A):c.1053C>T (p.Cys351=)	Inborn genetic diseases [RCV005329604]	likely benign	2	25247120	25247120	Human	1	name
598164938	CV3964261	single nucleotide variant	NM_022552.5(DNMT3A):c.1773C>T (p.Thr591=)	Inborn genetic diseases [RCV005329606]	likely benign	2	25244233	25244233	Human	1	name
598164947	CV3964263	single nucleotide variant	NM_022552.5(DNMT3A):c.1128C>T (p.Ala376=)	Inborn genetic diseases [RCV005329608]	likely benign	2	25246771	25246771	Human	1	name
598164951	CV3964264	single nucleotide variant	NM_022552.5(DNMT3A):c.2454T>C (p.Cys818=)	Inborn genetic diseases [RCV005329609]	likely benign	2	25236960	25236960	Human	1	name
598164960	CV3964266	single nucleotide variant	NM_022552.5(DNMT3A):c.2034G>A (p.Gln678=)	Inborn genetic diseases [RCV005329611]	likely benign	2	25241610	25241610	Human	1	name
598164963	CV3964267	single nucleotide variant	NM_022552.5(DNMT3A):c.1881A>G (p.Pro627=)	Inborn genetic diseases [RCV005329612]	likely benign	2	25243953	25243953	Human	1	name
598164968	CV3964268	single nucleotide variant	NM_022552.5(DNMT3A):c.2127C>T (p.Pro709=)	Inborn genetic diseases [RCV005329613]	likely benign	2	25240686	25240686	Human	1	name
598164988	CV3964272	single nucleotide variant	NM_022552.5(DNMT3A):c.1971G>C (p.Val657=)	Inborn genetic diseases [RCV005329617]	likely benign	2	25241673	25241673	Human	1	name
598164994	CV3964273	single nucleotide variant	NM_022552.5(DNMT3A):c.1335A>C (p.Ala445=)	Inborn genetic diseases [RCV005329618]	likely benign	2	25246254	25246254	Human	1	name
598165016	CV3964278	single nucleotide variant	NM_022552.5(DNMT3A):c.1089C>T (p.Pro363=)	Inborn genetic diseases [RCV005329623]	likely benign	2	25247084	25247084	Human	1	name
598165029	CV3964281	single nucleotide variant	NM_022552.5(DNMT3A):c.1941C>T (p.Leu647=)	Inborn genetic diseases [RCV005329626]	likely benign	2	25241703	25241703	Human	1	name
598165035	CV3964282	single nucleotide variant	NM_022552.5(DNMT3A):c.1881A>C (p.Pro627=)	Inborn genetic diseases [RCV005329627]	likely benign	2	25243953	25243953	Human	1	name
598165047	CV3964284	single nucleotide variant	NM_022552.5(DNMT3A):c.1866T>G (p.Val622=)	Inborn genetic diseases [RCV005329629]	likely benign	2	25243968	25243968	Human	1	name
598165060	CV3964287	single nucleotide variant	NM_022552.5(DNMT3A):c.1185T>C (p.Thr395=)	Inborn genetic diseases [RCV005329632]	likely benign	2	25246714	25246714	Human	1	name
598165066	CV3964288	single nucleotide variant	NM_022552.5(DNMT3A):c.1263C>T (p.Gly421=)	Inborn genetic diseases [RCV005329633]	likely benign	2	25246636	25246636	Human	1	name
598165070	CV3964289	single nucleotide variant	NM_022552.5(DNMT3A):c.2181T>G (p.Thr727=)	Inborn genetic diseases [RCV005329634]	likely benign	2	25240443	25240443	Human	1	name
598165074	CV3964290	single nucleotide variant	NM_022552.5(DNMT3A):c.1005A>G (p.Lys335=)	Inborn genetic diseases [RCV005329635]	likely benign	2	25247600	25247600	Human	1	name
598165094	CV3964294	single nucleotide variant	NM_022552.5(DNMT3A):c.1479C>T (p.Ile493=)	Inborn genetic diseases [RCV005329639]	likely benign	2	25245328	25245328	Human	1	name
598165098	CV3964295	single nucleotide variant	NM_022552.5(DNMT3A):c.2235G>A (p.Glu745=)	Inborn genetic diseases [RCV005329640]	likely benign	2	25240389	25240389	Human	1	name
598165106	CV3964297	single nucleotide variant	NM_022552.5(DNMT3A):c.2673G>T (p.Arg891=)	Inborn genetic diseases [RCV005329642]	likely benign	2	25234345	25234345	Human	1	name
598165111	CV3964298	single nucleotide variant	NM_022552.5(DNMT3A):c.2166C>A (p.Gly722=)	Inborn genetic diseases [RCV005329643]	likely benign	2	25240647	25240647	Human	1	name
598165117	CV3964299	single nucleotide variant	NM_022552.5(DNMT3A):c.2157T>C (p.Ala719=)	Inborn genetic diseases [RCV005329644]	likely benign	2	25240656	25240656	Human	1	name
598165121	CV3964300	single nucleotide variant	NM_022552.5(DNMT3A):c.2154T>C (p.Pro718=)	Inborn genetic diseases [RCV005329645]	likely benign	2	25240659	25240659	Human	1	name
598165132	CV3964302	single nucleotide variant	NM_022552.5(DNMT3A):c.1731G>A (p.Lys577=)	Inborn genetic diseases [RCV005329647]	likely benign	2	25244275	25244275	Human	1	name
598165140	CV3964304	single nucleotide variant	NM_022552.5(DNMT3A):c.2244T>C (p.Asp748=)	Inborn genetic diseases [RCV005329649]	likely benign	2	25240380	25240380	Human	1	name
598165145	CV3964305	single nucleotide variant	NM_022552.5(DNMT3A):c.1059G>C (p.Ala353=)	Inborn genetic diseases [RCV005329650]	likely benign	2	25247114	25247114	Human	1	name
598165151	CV3964306	single nucleotide variant	NM_022552.5(DNMT3A):c.2169C>T (p.Leu723=)	Inborn genetic diseases [RCV005329651]	likely benign	2	25240644	25240644	Human	1	name
598165165	CV3964309	single nucleotide variant	NM_022552.5(DNMT3A):c.1113G>A (p.Glu371=)	Inborn genetic diseases [RCV005329654]	likely benign	2	25247060	25247060	Human	1	name
598165184	CV3964313	single nucleotide variant	NM_022552.5(DNMT3A):c.2671C>A (p.Arg891=)	Inborn genetic diseases [RCV005329658]	likely benign	2	25234347	25234347	Human	1	name
598165189	CV3964314	single nucleotide variant	NM_022552.5(DNMT3A):c.1626G>A (p.Gly542=)	Inborn genetic diseases [RCV005329659]	likely benign	2	25244581	25244581	Human	1	name
598165192	CV3964315	single nucleotide variant	NM_022552.5(DNMT3A):c.1056T>C (p.Ser352=)	Inborn genetic diseases [RCV005329660]	likely benign	2	25247117	25247117	Human	1	name
598165211	CV3964319	single nucleotide variant	NM_022552.5(DNMT3A):c.1137C>A (p.Arg379=)	Inborn genetic diseases [RCV005329664]	likely benign	2	25246762	25246762	Human	1	name
598165227	CV3964323	single nucleotide variant	NM_022552.5(DNMT3A):c.1524C>T (p.Leu508=)	Inborn genetic diseases [RCV005329668]	likely benign	2	25245283	25245283	Human	1	name
12894002	CV405695	duplication	NM_022552.5(DNMT3A):c.340dup (p.Ala114fs)	not provided [RCV000481109]	pathogenic	2	25282548	25282549	Human		name
13215974	CV428044	single nucleotide variant	NM_022552.5(DNMT3A):c.2652G>A (p.Ala884=)	DNMT3A-related disorder [RCV003962378]\|Inborn genetic diseases [RCV004975586]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002060109]\|not provided [RCV000920263]\|not specified [RCV000503184]	benign\|likely benign	2	25234366	25234366	Human	2	name , trait , alternate_id
13214642	CV428046	single nucleotide variant	NM_022552.5(DNMT3A):c.1491T>C (p.Cys497=)	DNMT3A-related disorder [RCV003915371]\|Inborn genetic diseases [RCV005328287]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002527240]\|not specified [RCV000501518]	likely benign\|uncertain significance	2	25245316	25245316	Human	2	name , trait , alternate_id
13216322	CV428047	single nucleotide variant	NM_022552.5(DNMT3A):c.1155G>A (p.Pro385=)	DNMT3A-related disorder [RCV003960160]\|Inborn genetic diseases [RCV004975587]\|Tatton-Brown-Rahman overgrowth syndrome [RCV000945500]\|not provided [RCV001534819]\|not specified [RCV000503622]	likely benign\|uncertain significance	2	25246744	25246744	Human	2	name , trait , alternate_id
13481777	CV450751	single nucleotide variant	NM_022552.5(DNMT3A):c.2151C>T (p.Asn717=)	DNMT3A-related disorder [RCV003935531]\|Inborn genetic diseases [RCV004975683]\|Tatton-Brown-Rahman overgrowth syndrome [RCV000551582]\|not provided [RCV001672862]\|not specified [RCV001821633]	benign\|likely benign	2	25240662	25240662	Human	2	name , trait , alternate_id
13477576	CV450755	deletion	NM_022552.5(DNMT3A):c.735del (p.Ala246fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV000549667]	pathogenic	2	25248157	25248157	Human	1	name
13473737	CV450968	single nucleotide variant	NM_022552.5(DNMT3A):c.1140G>A (p.Ala380=)	Tatton-Brown-Rahman overgrowth syndrome [RCV000547935]\|not provided [RCV001536904]	benign	2	25246759	25246759	Human	1	name
13516825	CV490941	single nucleotide variant	NM_022552.5(DNMT3A):c.2676A>G (p.Ser892=)	DNMT3A-related disorder [RCV003927918]\|Inborn genetic diseases [RCV004975698]\|Tatton-Brown-Rahman overgrowth syndrome [RCV001088447]\|not provided [RCV000596005]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	25234342	25234342	Human	2	name , trait , alternate_id
13523711	CV492017	single nucleotide variant	NM_022552.5(DNMT3A):c.2175G>A (p.Glu725=)	not provided [RCV000593348]	uncertain significance	2	25240449	25240449	Human		name
13624453	CV518041	single nucleotide variant	NM_022552.5(DNMT3A):c.2688A>G (p.Pro896=)	DNMT3A-related disorder [RCV003928130]\|Inborn genetic diseases [RCV004972824]\|Tatton-Brown-Rahman overgrowth syndrome [RCV000652289]\|not provided [RCV001653973]	benign\|likely benign	2	25234330	25234330	Human	2	name , trait , alternate_id
15142026	CV691110	single nucleotide variant	NM_022552.5(DNMT3A):c.1038G>A (p.Pro346=)	DNMT3A-related disorder [RCV003930450]\|Tatton-Brown-Rahman overgrowth syndrome [RCV000877785]	likely benign	2	25247135	25247135	Human	1	name , trait , alternate_id
15176795	CV697498	single nucleotide variant	NM_022552.5(DNMT3A):c.2658G>A (p.Gln886=)	DNMT3A-related disorder [RCV003970714]\|Inborn genetic diseases [RCV004973195]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002066271]\|not provided [RCV000950906]	likely benign	2	25234360	25234360	Human	2	name , trait , alternate_id
15179215	CV697499	single nucleotide variant	NM_022552.5(DNMT3A):c.1677C>T (p.Cys559=)	DNMT3A-related disorder [RCV003915786]\|Inborn genetic diseases [RCV004973198]\|Tatton-Brown-Rahman overgrowth syndrome [RCV000951468]\|not provided [RCV001683696]	benign\|likely benign	2	25244329	25244329	Human	2	name , trait , alternate_id
15150525	CV697500	single nucleotide variant	NM_022552.5(DNMT3A):c.1170C>T (p.Ser390=)	DNMT3A-related disorder [RCV003925853]\|Inborn genetic diseases [RCV004973188]\|Tatton-Brown-Rahman overgrowth syndrome [RCV000945513]\|not provided [RCV001696224]	benign\|likely benign	2	25246729	25246729	Human	2	name , trait , alternate_id
15153003	CV697501	single nucleotide variant	NM_022552.5(DNMT3A):c.1164C>T (p.His388=)	DNMT3A-related disorder [RCV003942988]\|Inborn genetic diseases [RCV004973190]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002546000]	likely benign	2	25246735	25246735	Human	2	name , trait , alternate_id
15131914	CV708191	single nucleotide variant	NM_022552.5(DNMT3A):c.187G>A (p.Gly63Ser)	DNMT3A-related disorder [RCV003943135]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002547289]\|not provided [RCV003886459]	benign\|likely benign\|uncertain significance	2	25282702	25282702	Human	1	name , trait , alternate_id
15158977	CV733373	single nucleotide variant	NM_022552.5(DNMT3A):c.2697C>T (p.Arg899=)	Inborn genetic diseases [RCV004973150]\|Tatton-Brown-Rahman overgrowth syndrome [RCV000902842]\|not provided [RCV001759667]	likely benign	2	25234321	25234321	Human	2	name
15139580	CV733374	single nucleotide variant	NM_022552.5(DNMT3A):c.1575G>A (p.Ala525=)	DNMT3A-related disorder [RCV003895484]\|Inborn genetic diseases [RCV004973145]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002540185]	likely benign	2	25244632	25244632	Human	2	name , trait , alternate_id
15124036	CV747496	single nucleotide variant	NM_022552.5(DNMT3A):c.2628C>T (p.Asp876=)	DNMT3A-related disorder [RCV003970470]\|Inborn genetic diseases [RCV004973169]\|Tatton-Brown-Rahman overgrowth syndrome [RCV000918918]	likely benign	2	25234390	25234390	Human	2	name , trait , alternate_id
15108181	CV747497	single nucleotide variant	NM_022552.5(DNMT3A):c.2331T>C (p.Pro777=)	DNMT3A-related disorder [RCV003970427]\|Inborn genetic diseases [RCV004973165]\|Tatton-Brown-Rahman overgrowth syndrome [RCV001434533]	likely benign	2	25239207	25239207	Human	2	name , trait , alternate_id
15170668	CV747498	single nucleotide variant	NM_022552.5(DNMT3A):c.1432C>A (p.Arg478=)	DNMT3A-related disorder [RCV003895640]\|Inborn genetic diseases [RCV005328438]\|not provided [RCV000927746]	likely benign	2	25246062	25246062	Human	1	name , trait , alternate_id
15124029	CV747499	single nucleotide variant	NM_022552.5(DNMT3A):c.1074G>A (p.Thr358=)	DNMT3A-related disorder [RCV003895584]\|Inborn genetic diseases [RCV004973168]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002540947]\|not provided [RCV000918917]	likely benign	2	25247099	25247099	Human	2	name , trait , alternate_id
15174518	CV763124	single nucleotide variant	NM_022552.5(DNMT3A):c.2712G>A (p.Pro904=)	DNMT3A-related disorder [RCV003942885]\|Inborn genetic diseases [RCV004973177]\|Tatton-Brown-Rahman overgrowth syndrome [RCV000928451]\|not provided [RCV001593131]	likely benign	2	25234306	25234306	Human	2	name , trait , alternate_id
15132527	CV781268	single nucleotide variant	NM_022552.5(DNMT3A):c.2232G>A (p.Lys744=)	Inborn genetic diseases [RCV004973223]\|Tatton-Brown-Rahman overgrowth syndrome [RCV000981396]	likely benign	2	25240392	25240392	Human	2	name
25318988	CV816445	single nucleotide variant	NM_022552.5(DNMT3A):c.137G>A (p.Arg46Gln)	Tatton-Brown-Rahman overgrowth syndrome [RCV001028019]\|not provided [RCV004761885]	uncertain significance	2	25300179	25300179	Human	1	name
38461444	CV953022	single nucleotide variant	NM_022552.5(DNMT3A):c.122C>T (p.Pro41Leu)	Tatton-Brown-Rahman overgrowth syndrome [RCV001246960]	uncertain significance	2	25300194	25300194	Human	1	name
39457093	CV965736	deletion	NM_022552.5(DNMT3A):c.705del (p.Glu235fs)	Intellectual disability [RCV001255352]	likely pathogenic	2	25248187	25248187	Human	2	name
126746523	CV1015414	single nucleotide variant	NM_022552.5(DNMT3A):c.427C>T (p.Arg143Ter)	Intellectual disability [RCV001328488]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003584898]	pathogenic\|likely pathogenic	2	25282462	25282462	Human	3	name
126773988	CV1024328	single nucleotide variant	NM_022552.5(DNMT3A):c.386C>T (p.Ser129Leu)	Tatton-Brown-Rahman overgrowth syndrome [RCV001346704]	uncertain significance	2	25282503	25282503	Human	1	name
127248063	CV1059269	duplication	NM_022552.5(DNMT3A):c.1711dup (p.Ala571fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV001384839]	pathogenic\|likely pathogenic	2	25244294	25244295	Human	1	name
127230420	CV1087033	deletion	NM_022552.5(DNMT3A):c.1299del (p.Glu434fs)	See cases [RCV001420316]	pathogenic	2	25246290	25246290	Human		name
150412920	CV1176140	single nucleotide variant	NM_022552.5(DNMT3A):c.928A>G (p.Ile310Val)	not provided [RCV001547645]	uncertain significance	2	25247677	25247677	Human		name
150418686	CV1179499	single nucleotide variant	NM_022552.5(DNMT3A):c.835G>A (p.Asp279Asn)	Inborn genetic diseases [RCV002570687]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002568322]\|not provided [RCV001550708]	likely benign\|uncertain significance	2	25248057	25248057	Human	2	name
150452349	CV1275244	single nucleotide variant	NM_022552.5(DNMT3A):c.890G>A (p.Trp297Ter)	Tatton-Brown-Rahman overgrowth syndrome [RCV001706757]\|not provided [RCV003222340]	pathogenic\|likely pathogenic	2	25247715	25247715	Human	1	name
150529099	CV1288656	deletion	NM_022552.5(DNMT3A):c.1346del (p.Ala449fs)	not provided [RCV001727124]	pathogenic	2	25246243	25246243	Human		name
150533867	CV1305970	single nucleotide variant	NM_022552.5(DNMT3A):c.862C>T (p.Arg288Trp)	DNMT3A-related disorder [RCV004746447]\|not provided [RCV001755373]	uncertain significance	2	25247743	25247743	Human		name , trait , alternate_id
150533947	CV1307410	single nucleotide variant	NM_022552.5(DNMT3A):c.656A>G (p.Lys219Arg)	Acute myeloid leukemia [RCV002482287]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003772097]\|not provided [RCV001755546]	uncertain significance	2	25248236	25248236	Human	3	name
150533077	CV1308363	single nucleotide variant	NM_022552.5(DNMT3A):c.899T>G (p.Leu300Arg)	Tatton-Brown-Rahman overgrowth syndrome [RCV005416127]\|not provided [RCV001753354]	likely pathogenic\|uncertain significance	2	25247706	25247706	Human	1	name
150539287	CV1308606	single nucleotide variant	NM_022552.5(DNMT3A):c.893G>A (p.Gly298Glu)	not provided [RCV001766110]	uncertain significance	2	25247712	25247712	Human		name
150535977	CV1309078	single nucleotide variant	NM_022552.5(DNMT3A):c.899T>C (p.Leu300Pro)	not provided [RCV001759285]	uncertain significance	2	25247706	25247706	Human		name
151352236	CV1322322	single nucleotide variant	NM_022552.5(DNMT3A):c.875T>C (p.Ile292Thr)	Tatton-Brown-Rahman overgrowth syndrome [RCV002542370]\|not provided [RCV001806945]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	2	25247730	25247730	Human	1	name
151663718	CV1334184	deletion	NM_022552.5(DNMT3A):c.1791del (p.Arg598fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV001839358]	pathogenic	2	25244215	25244215	Human	1	name
8688714	CV137723	single nucleotide variant	NM_022552.5(DNMT3A):c.802G>A (p.Asp268Asn)	not specified [RCV000120653]	not provided	2	25248090	25248090	Human		name
8688715	CV137724	single nucleotide variant	NM_022552.5(DNMT3A):c.645G>C (p.Glu215Asp)	Tatton-Brown-Rahman overgrowth syndrome [RCV005055588]\|not specified [RCV000120654]	uncertain significance\|not provided	2	25248247	25248247	Human	1	name
151840287	CV1407850	single nucleotide variant	NM_022552.5(DNMT3A):c.343C>G (p.Pro115Ala)	Tatton-Brown-Rahman overgrowth syndrome [RCV001881268]	uncertain significance	2	25282546	25282546	Human	1	name
8696162	CV143240	single nucleotide variant	NM_022552.5(DNMT3A):c.929T>A (p.Ile310Asn)	Tatton-Brown-Rahman overgrowth syndrome [RCV000128560]	pathogenic	2	25247676	25247676	Human	1	name
151751151	CV1508357	single nucleotide variant	NM_022552.5(DNMT3A):c.694G>A (p.Gly232Arg)	DNMT3A-related disorder [RCV004746570]\|Tatton-Brown-Rahman overgrowth syndrome [RCV001986296]	uncertain significance	2	25248198	25248198	Human	1	name , trait , alternate_id
153302266	CV1688142	single nucleotide variant	NM_022552.5(DNMT3A):c.626G>A (p.Arg209His)	not provided [RCV002265368]	uncertain significance	2	25274954	25274954	Human		name
153305259	CV1688316	single nucleotide variant	NM_022552.5(DNMT3A):c.905G>C (p.Gly302Ala)	Heyn-Sproul-Jackson syndrome [RCV003228061]	likely pathogenic	2	25247700	25247700	Human	1	name
153346925	CV1694277	single nucleotide variant	NM_022552.5(DNMT3A):c.917G>A (p.Trp306Ter)	Neurodevelopmental disorder [RCV002277693]	pathogenic	2	25247688	25247688	Human	1	name
155266653	CV1699221	single nucleotide variant	NM_022552.5(DNMT3A):c.505C>T (p.Arg169Trp)	not provided [RCV002283016]	uncertain significance	2	25275075	25275075	Human		name
155686496	CV1777642	single nucleotide variant	NM_022552.5(DNMT3A):c.625C>G (p.Arg209Gly)	Tatton-Brown-Rahman overgrowth syndrome [RCV002299024]	uncertain significance	2	25274955	25274955	Human	1	name
155690637	CV1777942	single nucleotide variant	NM_022552.5(DNMT3A):c.374T>C (p.Leu125Pro)	Tatton-Brown-Rahman overgrowth syndrome [RCV002299267]	uncertain significance	2	25282515	25282515	Human	1	name
155798859	CV1862201	single nucleotide variant	NM_022552.5(DNMT3A):c.460A>G (p.Lys154Glu)	Tatton-Brown-Rahman overgrowth syndrome [RCV002471605]	uncertain significance	2	25275532	25275532	Human	1	name
155799999	CV1862753	deletion	NM_022552.5(DNMT3A):c.640-3826_640-3798del	Tatton-Brown-Rahman overgrowth syndrome [RCV002472160]	uncertain significance	2	25252050	25252078	Human	1	name
156200297	CV1916726	single nucleotide variant	NM_022552.5(DNMT3A):c.751A>C (p.Thr251Pro)	DNMT3A-related disorder [RCV004747212]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002595679]	uncertain significance	2	25248141	25248141	Human	1	name , trait , alternate_id
156173834	CV1926824	single nucleotide variant	NM_022552.5(DNMT3A):c.337G>A (p.Gly113Arg)	DNMT3A-related disorder [RCV003973718]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002624801]\|not provided [RCV004721123]	likely benign\|uncertain significance	2	25282552	25282552	Human	1	name , trait , alternate_id
156449338	CV1944606	single nucleotide variant	NM_022552.5(DNMT3A):c.793G>A (p.Val265Met)	Tatton-Brown-Rahman overgrowth syndrome [RCV003121458]	uncertain significance	2	25248099	25248099	Human	1	name
10401530	CV205233	single nucleotide variant	NM_022552.5(DNMT3A):c.892G>T (p.Gly298Trp)	Inborn genetic diseases [RCV000190731]	pathogenic	2	25247713	25247713	Human	1	name
156311323	CV2078665	single nucleotide variant	NM_022552.5(DNMT3A):c.629G>A (p.Trp210Ter)	Tatton-Brown-Rahman overgrowth syndrome [RCV002898735]	pathogenic	2	25274951	25274951	Human	1	name
156343471	CV2124066	single nucleotide variant	NM_022552.5(DNMT3A):c.428G>A (p.Arg143Gln)	DNMT3A-related disorder [RCV004747157]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002939030]	likely benign\|uncertain significance	2	25282461	25282461	Human	1	name , trait , alternate_id
156358512	CV2162243	single nucleotide variant	NM_022552.5(DNMT3A):c.853G>T (p.Glu285Ter)	Tatton-Brown-Rahman overgrowth syndrome [RCV003031398]	pathogenic	2	25248039	25248039	Human	1	name
155980871	CV2163067	single nucleotide variant	NM_022552.5(DNMT3A):c.838G>T (p.Asp280Tyr)	Tatton-Brown-Rahman overgrowth syndrome [RCV003033872]	uncertain significance	2	25248054	25248054	Human	1	name
156435273	CV2403505	single nucleotide variant	NM_022552.5(DNMT3A):c.745C>T (p.Gln249Ter)	Autism spectrum disorder [RCV003127441]	likely pathogenic	2	25248147	25248147	Human	2	name
243057993	CV2412266	single nucleotide variant	NM_022552.5(DNMT3A):c.553A>G (p.Met185Val)	not provided [RCV003146808]	uncertain significance	2	25275027	25275027	Human		name
329349764	CV2477187	single nucleotide variant	NM_022552.5(DNMT3A):c.334G>A (p.Gly112Ser)	not provided [RCV003221512]	uncertain significance	2	25282555	25282555	Human		name
329848645	CV2523392	single nucleotide variant	NM_022552.5(DNMT3A):c.767C>T (p.Pro256Leu)	not provided [RCV003225406]	uncertain significance	2	25248125	25248125	Human		name
329848747	CV2523495	single nucleotide variant	NM_022552.5(DNMT3A):c.976C>T (p.Arg326Cys)	not provided [RCV003225509]	uncertain significance	2	25247629	25247629	Human		name
11558295	CV260854	single nucleotide variant	NM_022552.5(DNMT3A):c.895A>C (p.Lys299Gln)	Tatton-Brown-Rahman overgrowth syndrome [RCV000256441]	likely pathogenic	2	25247710	25247710	Human	1	name
11632899	CV264098	deletion	NM_022552.5(DNMT3A):c.1374del (p.Lys459fs)	not provided [RCV000295479]	pathogenic	2	25246215	25246215	Human		name
401723724	CV2737874	single nucleotide variant	NM_022552.5(DNMT3A):c.547C>T (p.Arg183Trp)	not provided [RCV003315046]	uncertain significance	2	25275033	25275033	Human		name
401796596	CV2740762	single nucleotide variant	NM_022552.5(DNMT3A):c.413C>A (p.Thr138Asn)	not provided [RCV003321432]	uncertain significance	2	25282476	25282476	Human		name
401871495	CV2749551	single nucleotide variant	NM_022552.5(DNMT3A):c.322G>A (p.Gly108Arg)	Tatton-Brown-Rahman overgrowth syndrome [RCV003746675]\|not provided [RCV003332679]	uncertain significance	2	25282567	25282567	Human	1	name
401934571	CV2800416	single nucleotide variant	NM_022552.5(DNMT3A):c.481A>G (p.Met161Val)	DNMT3A-related disorder [RCV003411973]\|Tatton-Brown-Rahman overgrowth syndrome [RCV005104294]	uncertain significance	2	25275511	25275511	Human	1	name , trait , alternate_id
401936158	CV2802739	single nucleotide variant	NM_022552.5(DNMT3A):c.353G>C (p.Gly118Ala)	DNMT3A-related disorder [RCV003414129]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003746678]\|not provided [RCV004723297]	uncertain significance	2	25282536	25282536	Human	1	name , trait , alternate_id
405867557	CV2842288	deletion	NM_022552.5(DNMT3A):c.2250del (p.Phe751fs)	EBV-positive nodal T- and NK-cell lymphoma [RCV004560237]	pathogenic	2	25240374	25240374	Human		name
405150342	CV2869948	single nucleotide variant	NM_022552.5(DNMT3A):c.364G>A (p.Ala122Thr)	Tatton-Brown-Rahman overgrowth syndrome [RCV003585596]	uncertain significance	2	25282525	25282525	Human	1	name
405149880	CV2871975	duplication	NM_022552.5(DNMT3A):c.1792dup (p.Arg598fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV003585556]	pathogenic	2	25244213	25244214	Human	1	name
405150180	CV2876653	single nucleotide variant	NM_022552.5(DNMT3A):c.706T>C (p.Ser236Pro)	Inborn genetic diseases [RCV005333614]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003585582]	uncertain significance	2	25248186	25248186	Human	2	name
405141007	CV2894618	single nucleotide variant	NM_022552.5(DNMT3A):c.371C>T (p.Thr124Ile)	Tatton-Brown-Rahman overgrowth syndrome [RCV003584115]	uncertain significance	2	25282518	25282518	Human	1	name
405142331	CV2914286	single nucleotide variant	NM_022552.5(DNMT3A):c.457C>T (p.Gln153Ter)	Tatton-Brown-Rahman overgrowth syndrome [RCV003584278]	pathogenic	2	25275535	25275535	Human	1	name
405143428	CV2918944	deletion	NM_022552.5(DNMT3A):c.1151del (p.Phe384fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV003584227]	pathogenic	2	25246748	25246748	Human	1	name
405248228	CV2946775	single nucleotide variant	NM_022552.5(DNMT3A):c.373C>G (p.Leu125Val)	Tatton-Brown-Rahman overgrowth syndrome [RCV003746712]	uncertain significance	2	25282516	25282516	Human	1	name
405248607	CV2958806	single nucleotide variant	NM_022552.5(DNMT3A):c.662T>C (p.Ile221Thr)	Tatton-Brown-Rahman overgrowth syndrome [RCV003746852]	uncertain significance	2	25248230	25248230	Human	1	name
405249505	CV2979100	duplication	NM_022552.5(DNMT3A):c.1532dup (p.Gly512fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV003747155]	pathogenic	2	25245274	25245275	Human	1	name
405249702	CV2994977	single nucleotide variant	NM_022552.5(DNMT3A):c.733C>A (p.Pro245Thr)	Tatton-Brown-Rahman overgrowth syndrome [RCV003747239]	uncertain significance	2	25248159	25248159	Human	1	name
405249983	CV3007977	single nucleotide variant	NM_022552.5(DNMT3A):c.482T>A (p.Met161Lys)	Tatton-Brown-Rahman overgrowth syndrome [RCV003747357]	uncertain significance	2	25275510	25275510	Human	1	name
405246489	CV3009502	single nucleotide variant	NM_022552.5(DNMT3A):c.625C>T (p.Arg209Cys)	Tatton-Brown-Rahman overgrowth syndrome [RCV003746013]	uncertain significance	2	25274955	25274955	Human	1	name
405246553	CV3016387	single nucleotide variant	NM_022552.5(DNMT3A):c.721G>A (p.Glu241Lys)	Tatton-Brown-Rahman overgrowth syndrome [RCV003746034]	uncertain significance	2	25248171	25248171	Human	1	name
405246619	CV3016961	deletion	NM_022552.5(DNMT3A):c.2609del (p.Phe870fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV003746055]	pathogenic	2	25234409	25234409	Human	1	name
405247262	CV3035579	single nucleotide variant	NM_022552.5(DNMT3A):c.838G>A (p.Asp280Asn)	Tatton-Brown-Rahman overgrowth syndrome [RCV003746303]	uncertain significance	2	25248054	25248054	Human	1	name
405247608	CV3044697	single nucleotide variant	NM_022552.5(DNMT3A):c.475G>A (p.Glu159Lys)	Tatton-Brown-Rahman overgrowth syndrome [RCV003746437]	uncertain significance	2	25275517	25275517	Human	1	name
405250388	CV3068987	single nucleotide variant	NM_022552.5(DNMT3A):c.367G>C (p.Glu123Gln)	Tatton-Brown-Rahman overgrowth syndrome [RCV003747506]	uncertain significance	2	25282522	25282522	Human	1	name
405079173	CV3137081	single nucleotide variant	NM_022552.5(DNMT3A):c.806C>G (p.Ala269Gly)	Tatton-Brown-Rahman overgrowth syndrome [RCV003833980]	uncertain significance	2	25248086	25248086	Human	1	name
405253247	CV3178240	single nucleotide variant	NM_022552.5(DNMT3A):c.445G>A (p.Ala149Thr)	Tatton-Brown-Rahman overgrowth syndrome [RCV003871021]	uncertain significance	2	25282444	25282444	Human	1	name
405268697	CV3187105	deletion	NM_022552.5(DNMT3A):c.1044del (p.Ser349fs)	not provided [RCV003887188]	pathogenic	2	25247129	25247129	Human		name
408368124	CV3224477	deletion	NM_022552.5(DNMT3A):c.1925del (p.Gly642fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV004723556]	likely pathogenic	2	25243909	25243909	Human	1	name
405744754	CV3226144	single nucleotide variant	NM_022552.5(DNMT3A):c.916T>C (p.Trp306Arg)	Heyn-Sproul-Jackson syndrome [RCV003991135]	likely pathogenic	2	25247689	25247689	Human	1	name
405853638	CV3395072	deletion	NM_022552.5(DNMT3A):c.2153del (p.Pro718fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV004555214]	likely pathogenic	2	25240660	25240660	Human	1	name
407429461	CV3413755	deletion	NM_022552.5(DNMT3A):c.1367del (p.Lys456fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV004595164]	pathogenic	2	25246222	25246222	Human	1	name
408377789	CV3503127	single nucleotide variant	NM_022552.5(DNMT3A):c.892G>C (p.Gly298Arg)	not provided [RCV004727698]	pathogenic	2	25247713	25247713	Human		name
408376142	CV3505573	single nucleotide variant	NM_022552.5(DNMT3A):c.981G>A (p.Trp327Ter)	DNMT3A-related disorder [RCV004726573]	likely pathogenic	2	25247624	25247624	Human		name , trait , alternate_id
408375637	CV3506470	single nucleotide variant	NM_022552.5(DNMT3A):c.483G>A (p.Met161Ile)	DNMT3A-related disorder [RCV004726315]	uncertain significance	2	25275509	25275509	Human		name , trait , alternate_id
408375069	CV3509310	single nucleotide variant	NM_022552.5(DNMT3A):c.602G>T (p.Arg201Leu)	DNMT3A-related disorder [RCV004747711]	uncertain significance	2	25274978	25274978	Human		name , trait , alternate_id
408374223	CV3515241	single nucleotide variant	NM_022552.5(DNMT3A):c.697C>G (p.Pro233Ala)	DNMT3A-related disorder [RCV004746098]\|Inborn genetic diseases [RCV004981196]	uncertain significance	2	25248195	25248195	Human	1	name , trait , alternate_id
408374473	CV3516440	single nucleotide variant	NM_022552.5(DNMT3A):c.398A>G (p.Glu133Gly)	DNMT3A-related disorder [RCV004746778]	uncertain significance	2	25282491	25282491	Human		name , trait , alternate_id
408393953	CV3521646	single nucleotide variant	NM_022552.5(DNMT3A):c.323G>C (p.Gly108Ala)	Tatton-Brown-Rahman overgrowth syndrome [RCV004764444]	uncertain significance	2	25282566	25282566	Human	1	name
408392154	CV3525124	single nucleotide variant	NM_022552.5(DNMT3A):c.953G>A (p.Arg318Gln)	not provided [RCV004771010]	uncertain significance	2	25247652	25247652	Human		name
408393350	CV3525494	single nucleotide variant	NM_022552.5(DNMT3A):c.925C>T (p.Arg309Cys)	not provided [RCV004771380]	uncertain significance	2	25247680	25247680	Human		name
408391996	CV3526424	single nucleotide variant	NM_022552.5(DNMT3A):c.844C>A (p.Pro282Thr)	not provided [RCV004775673]	uncertain significance	2	25248048	25248048	Human		name
408393610	CV3529528	deletion	NM_022552.5(DNMT3A):c.2387del (p.Gly796fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV004776369]	pathogenic	2	25239151	25239151	Human	1	name
597649436	CV3659344	single nucleotide variant	NM_022552.5(DNMT3A):c.730C>T (p.Pro244Ser)	Inborn genetic diseases [RCV004974375]	uncertain significance	2	25248162	25248162	Human	1	name
597649558	CV3659364	single nucleotide variant	NM_022552.5(DNMT3A):c.817A>G (p.Asn273Asp)	Inborn genetic diseases [RCV004974394]	uncertain significance	2	25248075	25248075	Human	1	name
597834417	CV3735273	single nucleotide variant	NM_022552.5(DNMT3A):c.364G>C (p.Ala122Pro)	Tatton-Brown-Rahman overgrowth syndrome [RCV005055005]	uncertain significance	2	25282525	25282525	Human	1	name
597844050	CV3736074	single nucleotide variant	NM_022552.5(DNMT3A):c.742C>T (p.Gln248Ter)	Tatton-Brown-Rahman overgrowth syndrome [RCV005065422]	pathogenic	2	25248150	25248150	Human	1	name
597916427	CV3737409	single nucleotide variant	NM_022552.5(DNMT3A):c.416C>G (p.Pro139Arg)	Tatton-Brown-Rahman overgrowth syndrome [RCV005074198]	uncertain significance	2	25282473	25282473	Human	1	name
597849421	CV3746698	single nucleotide variant	NM_022552.5(DNMT3A):c.863G>A (p.Arg288Gln)	Tatton-Brown-Rahman overgrowth syndrome [RCV005066095]	uncertain significance	2	25247742	25247742	Human	1	name
597946013	CV3790026	single nucleotide variant	NM_022552.5(DNMT3A):c.722A>C (p.Glu241Ala)	Tatton-Brown-Rahman overgrowth syndrome [RCV005134727]	uncertain significance	2	25248170	25248170	Human	1	name
597883434	CV3799493	single nucleotide variant	NM_022552.5(DNMT3A):c.389G>T (p.Arg130Ile)	Tatton-Brown-Rahman overgrowth syndrome [RCV005150160]	uncertain significance	2	25282500	25282500	Human	1	name
597956726	CV3800274	deletion	NM_022552.5(DNMT3A):c.1023del (p.Glu342fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV005137366]	pathogenic	2	25247150	25247150	Human	1	name
597917361	CV3811155	deletion	NM_022552.5(DNMT3A):c.2671del (p.Arg891fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV005155190]	pathogenic	2	25234347	25234347	Human	1	name
597877034	CV3813335	deletion	NM_022552.5(DNMT3A):c.1711del (p.Ala571fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV005149271]	pathogenic	2	25244295	25244295	Human	1	name
597887414	CV3839063	single nucleotide variant	NM_022552.5(DNMT3A):c.690C>G (p.Asn230Lys)	Tatton-Brown-Rahman overgrowth syndrome [RCV005179148]	uncertain significance	2	25248202	25248202	Human	1	name
597874115	CV3846329	single nucleotide variant	NM_022552.5(DNMT3A):c.631A>G (p.Lys211Glu)	Tatton-Brown-Rahman overgrowth syndrome [RCV005177212]	uncertain significance	2	25274949	25274949	Human	1	name
597966745	CV3855616	single nucleotide variant	NM_022552.5(DNMT3A):c.731C>A (p.Pro244His)	Inborn genetic diseases [RCV005326059]\|Tatton-Brown-Rahman overgrowth syndrome [RCV005194596]	uncertain significance	2	25248161	25248161	Human	2	name
598125497	CV3885787	single nucleotide variant	NM_022552.5(DNMT3A):c.388A>G (p.Arg130Gly)	Tatton-Brown-Rahman overgrowth syndrome [RCV005241305]	uncertain significance	2	25282501	25282501	Human	1	name
598127735	CV3888305	deletion	NM_022552.5(DNMT3A):c.1028del (p.Lys343fs)	not provided [RCV005242991]	pathogenic	2	25247145	25247145	Human		name
598123407	CV3890327	single nucleotide variant	NM_022552.5(DNMT3A):c.907T>C (p.Phe303Leu)	not provided [RCV005250846]	uncertain significance	2	25247698	25247698	Human		name
598164866	CV3964245	single nucleotide variant	NM_022552.5(DNMT3A):c.956G>A (p.Ser319Asn)	Inborn genetic diseases [RCV005329590]	uncertain significance	2	25247649	25247649	Human	1	name
598164869	CV3964246	single nucleotide variant	NM_022552.5(DNMT3A):c.767C>G (p.Pro256Arg)	Inborn genetic diseases [RCV005329591]	uncertain significance	2	25248125	25248125	Human	1	name
598165001	CV3964275	single nucleotide variant	NM_022552.5(DNMT3A):c.926G>C (p.Arg309Pro)	Inborn genetic diseases [RCV005329620]	uncertain significance	2	25247679	25247679	Human	1	name
598165103	CV3964296	single nucleotide variant	NM_022552.5(DNMT3A):c.730C>A (p.Pro244Thr)	Inborn genetic diseases [RCV005329641]	uncertain significance	2	25248162	25248162	Human	1	name
598165158	CV3964308	single nucleotide variant	NM_022552.5(DNMT3A):c.844C>G (p.Pro282Ala)	Inborn genetic diseases [RCV005329653]	uncertain significance	2	25248048	25248048	Human	1	name
598165230	CV3964324	single nucleotide variant	NM_022552.5(DNMT3A):c.733C>T (p.Pro245Ser)	Inborn genetic diseases [RCV005329669]	uncertain significance	2	25248159	25248159	Human	1	name
616935937	CV4015916	single nucleotide variant	NM_022552.5(DNMT3A):c.506G>T (p.Arg169Leu)	not provided [RCV005414780]	uncertain significance	2	25275074	25275074	Human		name
13212072	CV425484	single nucleotide variant	NM_022552.5(DNMT3A):c.901C>T (p.Arg301Trp)	Inborn genetic diseases [RCV000624203]\|not provided [RCV000498296]	pathogenic\|likely pathogenic\|uncertain significance	2	25247704	25247704	Human	1	name
13521158	CV495148	duplication	NM_022552.5(DNMT3A):c.1867dup (p.Tyr623fs)	not provided [RCV000599228]	likely pathogenic	2	25243966	25243967	Human		name
13624452	CV517998	deletion	NM_022552.5(DNMT3A):c.1510del (p.Leu504fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV000652288]	pathogenic	2	25245297	25245297	Human	1	name
13790698	CV550164	duplication	NM_022552.5(DNMT3A):c.1628dup (p.Arg544fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV000677140]	pathogenic	2	25244578	25244579	Human	1	name
13821585	CV560553	deletion	NM_022552.5(DNMT3A):c.1243del (p.Gln415fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV000696106]	pathogenic	2	25246656	25246656	Human	1	name
13835937	CV587200	single nucleotide variant	NM_022552.5(DNMT3A):c.328C>G (p.Gln110Glu)	not provided [RCV000731871]	uncertain significance	2	25282561	25282561	Human		name
14395681	CV611384	single nucleotide variant	NM_022552.5(DNMT3A):c.920C>T (p.Pro307Leu)	Acute myeloid leukemia [RCV000760251]	likely pathogenic	2	25247685	25247685	Human	2	name
14395893	CV611568	single nucleotide variant	NM_022552.5(DNMT3A):c.617G>A (p.Trp206Ter)	not provided [RCV000760611]	pathogenic	2	25274963	25274963	Human		name
14691273	CV619907	deletion	NM_022552.5(DNMT3A):c.1867del (p.Tyr623fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV000778096]	pathogenic	2	25243967	25243967	Human	1	name
21072350	CV789713	single nucleotide variant	NM_022552.5(DNMT3A):c.988T>C (p.Trp330Arg)	Heyn-Sproul-Jackson syndrome [RCV000986095]	pathogenic	2	25247617	25247617	Human	1	name
21072356	CV789714	single nucleotide variant	NM_022552.5(DNMT3A):c.997G>A (p.Asp333Asn)	Heyn-Sproul-Jackson syndrome [RCV000986096]\|not provided [RCV003314654]	pathogenic\|likely pathogenic	2	25247608	25247608	Human	1	name
25319143	CV805300	deletion	NM_022552.5(DNMT3A):c.2657del (p.Gln886fs)	not provided [RCV001008921]	likely pathogenic	2	25234361	25234361	Human		name
25319684	CV805301	duplication	NM_022552.5(DNMT3A):c.2469dup (p.Ile824fs)	not provided [RCV001009039]	pathogenic	2	25236944	25236945	Human		name
26885907	CV826114	single nucleotide variant	NM_022552.5(DNMT3A):c.736G>A (p.Ala246Thr)	Tatton-Brown-Rahman overgrowth syndrome [RCV001043837]	uncertain significance	2	25248156	25248156	Human	1	name
26917284	CV826115	single nucleotide variant	NM_022552.5(DNMT3A):c.700G>A (p.Gly234Arg)	Tatton-Brown-Rahman overgrowth syndrome [RCV001042541]	uncertain significance	2	25248192	25248192	Human	1	name
38492018	CV922677	single nucleotide variant	NM_022552.5(DNMT3A):c.446C>T (p.Ala149Val)	Tatton-Brown-Rahman overgrowth syndrome [RCV001223254]	likely benign\|uncertain significance	2	25282443	25282443	Human	1	name
38498182	CV942746	single nucleotide variant	NM_022552.5(DNMT3A):c.958C>T (p.Arg320Ter)	EBV-positive nodal T- and NK-cell lymphoma [RCV004557460]\|Tatton-Brown-Rahman overgrowth syndrome [RCV001227614]\|not provided [RCV003321812]	pathogenic	2	25247647	25247647	Human	1	name
38464017	CV961260	single nucleotide variant	NM_022552.5(DNMT3A):c.998A>T (p.Asp333Val)	DNMT3A-related disorder [RCV004545820]	not provided	2	25247607	25247607	Human		name , trait , alternate_id
40814403	CV969342	single nucleotide variant	NM_022552.5(DNMT3A):c.994G>A (p.Gly332Arg)	Intellectual disability [RCV001260609]\|Tatton-Brown-Rahman overgrowth syndrome [RCV001879994]	conflicting interpretations of pathogenicity\|uncertain significance	2	25247611	25247611	Human	3	name
40887723	CV973294	deletion	NM_022552.5(DNMT3A):c.2037del (p.Lys680fs)	Inborn genetic diseases [RCV001267322]	pathogenic	2	25241607	25241607	Human	1	name
40886844	CV973296	duplication	NM_022552.5(DNMT3A):c.1238dup (p.Phe414fs)	DNMT3A-related disorder [RCV004746302]\|Inborn genetic diseases [RCV001266123]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003222290]	pathogenic\|likely pathogenic	2	25246660	25246661	Human	2	name , trait , alternate_id
40887628	CV973297	single nucleotide variant	NM_022552.5(DNMT3A):c.886G>C (p.Val296Leu)	Inborn genetic diseases [RCV001267236]	uncertain significance	2	25247719	25247719	Human	1	name
126733874	CV1000334	single nucleotide variant	NM_022552.5(DNMT3A):c.2012C>T (p.Thr671Met)	not provided [RCV001311187]	likely pathogenic\|uncertain significance	2	25241632	25241632	Human		name
127231467	CV1053875	single nucleotide variant	NM_022552.5(DNMT3A):c.1004A>G (p.Lys335Arg)	Autism spectrum disorder [RCV001871979]\|Neonatal hypotonia [RCV001376132]\|not provided [RCV002285481]	pathogenic\|likely pathogenic\|not provided	2	25247601	25247601	Human	4	name
127237759	CV1059268	single nucleotide variant	NM_022552.5(DNMT3A):c.1792C>T (p.Arg598Ter)	See cases [RCV002252677]\|Tatton-Brown-Rahman overgrowth syndrome [RCV001382894]\|not provided [RCV002284489]	pathogenic\|likely pathogenic	2	25244214	25244214	Human	1	name
127230261	CV1087032	single nucleotide variant	NM_022552.5(DNMT3A):c.1490G>T (p.Cys497Phe)	See cases [RCV001420199]	likely pathogenic	2	25245317	25245317	Human		name
127296209	CV1162240	single nucleotide variant	NM_022552.5(DNMT3A):c.1757G>T (p.Cys586Phe)	Tatton-Brown-Rahman overgrowth syndrome [RCV001527373]	pathogenic	2	25244249	25244249	Human	1	name
150414297	CV1176138	single nucleotide variant	NM_022552.5(DNMT3A):c.1648G>A (p.Gly550Arg)	not provided [RCV001548066]	pathogenic\|uncertain significance	2	25244559	25244559	Human		name
150424863	CV1183156	single nucleotide variant	NM_022552.5(DNMT3A):c.2207G>A (p.Arg736His)	Tatton-Brown-Rahman overgrowth syndrome [RCV003227525]\|not provided [RCV001557227]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	2	25240417	25240417	Human	1	name
150421872	CV1196879	single nucleotide variant	NM_022552.5(DNMT3A):c.1003A>G (p.Lys335Glu)	not provided [RCV001578215]	uncertain significance	2	25247602	25247602	Human		name
150476992	CV1203123	single nucleotide variant	NM_022552.5(DNMT3A):c.1907T>A (p.Val636Glu)	not provided [RCV001589717]	likely pathogenic	2	25243927	25243927	Human		name
150452984	CV1203706	single nucleotide variant	NM_022552.5(DNMT3A):c.2062C>T (p.Arg688Cys)	DNMT3A-related disorder [RCV004728779]\|Tatton-Brown-Rahman overgrowth syndrome [RCV001591662]	uncertain significance	2	25241582	25241582	Human	1	name , trait , alternate_id
150533848	CV1305938	single nucleotide variant	NM_022552.5(DNMT3A):c.2622T>A (p.Tyr874Ter)	not provided [RCV001755340]	uncertain significance	2	25234396	25234396	Human		name
150533926	CV1306080	single nucleotide variant	NM_022552.5(DNMT3A):c.2398G>A (p.Gly800Ser)	not provided [RCV001755484]	uncertain significance	2	25239140	25239140	Human		name
150534474	CV1306166	single nucleotide variant	NM_022552.5(DNMT3A):c.1631G>A (p.Arg544His)	not provided [RCV001757355]	uncertain significance	2	25244576	25244576	Human		name
150542868	CV1306635	single nucleotide variant	NM_022552.5(DNMT3A):c.1976G>A (p.Arg659His)	DNMT3A-related disorder [RCV004746450]\|Inborn genetic diseases [RCV005330907]\|Tatton-Brown-Rahman overgrowth syndrome [RCV004728802]\|not provided [RCV001769699]	pathogenic\|uncertain significance	2	25241668	25241668	Human	2	name , trait , alternate_id
150535693	CV1306992	single nucleotide variant	NM_022552.5(DNMT3A):c.2027G>A (p.Arg676Gln)	Tatton-Brown-Rahman overgrowth syndrome [RCV005095071]\|not provided [RCV001759046]	uncertain significance	2	25241617	25241617	Human	1	name
150533968	CV1307441	single nucleotide variant	NM_022552.5(DNMT3A):c.2017G>A (p.Gly673Ser)	not provided [RCV001755578]	uncertain significance	2	25241627	25241627	Human		name
150531560	CV1310987	single nucleotide variant	NM_022552.5(DNMT3A):c.1061T>C (p.Phe354Ser)	not provided [RCV001776721]	uncertain significance	2	25247112	25247112	Human		name
150531720	CV1311261	single nucleotide variant	NM_022552.5(DNMT3A):c.2104G>A (p.Asp702Asn)	not provided [RCV001776996]	uncertain significance	2	25240709	25240709	Human		name
150536055	CV1312245	single nucleotide variant	NM_022552.5(DNMT3A):c.2693T>C (p.Ile898Thr)	Neurodevelopmental disorder [RCV001780007]	likely pathogenic	2	25234325	25234325	Human	1	name
151351795	CV1323637	single nucleotide variant	NM_022552.5(DNMT3A):c.1647C>A (p.Cys549Ter)	Obesity [RCV001807541]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003772257]	pathogenic	2	25244560	25244560	Human	8	name
151354949	CV1328016	single nucleotide variant	NM_022552.5(DNMT3A):c.1385C>T (p.Ala462Val)	DNMT3A-related disorder [RCV003968578]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002542576]\|not specified [RCV001819492]	likely benign\|uncertain significance	2	25246204	25246204	Human	1	name , trait , alternate_id
151661993	CV1330163	single nucleotide variant	NM_022552.5(DNMT3A):c.2059G>A (p.Val687Ile)	DNMT3A-related disorder [RCV004728837]\|Heyn-Sproul-Jackson syndrome [RCV001823574]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002542734]	uncertain significance	2	25241585	25241585	Human	2	name , trait , alternate_id
8688716	CV137725	single nucleotide variant	NM_022552.5(DNMT3A):c.1502A>G (p.Asn501Ser)	DNMT3A-related disorder [RCV003925179]\|Tatton-Brown-Rahman overgrowth syndrome [RCV000558524]\|not provided [RCV001566672]\|not specified [RCV000120655]	likely benign\|uncertain significance\|not provided	2	25245305	25245305	Human	1	name , trait , alternate_id
151790235	CV1393051	single nucleotide variant	NM_022552.5(DNMT3A):c.1274C>T (p.Pro425Leu)	Tatton-Brown-Rahman overgrowth syndrome [RCV001931346]	uncertain significance	2	25246625	25246625	Human	1	name
8696161	CV143239	single nucleotide variant	NM_022552.5(DNMT3A):c.1943T>C (p.Leu648Pro)	Tatton-Brown-Rahman overgrowth syndrome [RCV000128559]	pathogenic	2	25241701	25241701	Human	1	name
8696163	CV143241	single nucleotide variant	NM_022552.5(DNMT3A):c.1643T>A (p.Met548Lys)	Tatton-Brown-Rahman overgrowth syndrome [RCV000128561]	pathogenic	2	25244564	25244564	Human	1	name
8696164	CV143242	single nucleotide variant	NM_022552.5(DNMT3A):c.2705T>C (p.Phe902Ser)	Tatton-Brown-Rahman overgrowth syndrome [RCV000128562]	pathogenic	2	25234313	25234313	Human	1	name
151816509	CV1475983	single nucleotide variant	NM_022552.5(DNMT3A):c.1057G>A (p.Ala353Thr)	Tatton-Brown-Rahman overgrowth syndrome [RCV001992342]	uncertain significance	2	25247116	25247116	Human	1	name
151830154	CV1491779	single nucleotide variant	NM_022552.5(DNMT3A):c.2678G>A (p.Trp893Ter)	Tatton-Brown-Rahman overgrowth syndrome [RCV002030720]	pathogenic\|likely pathogenic	2	25234340	25234340	Human	1	name
151840389	CV1508192	single nucleotide variant	NM_022552.5(DNMT3A):c.1895A>G (p.Lys632Arg)	Tatton-Brown-Rahman overgrowth syndrome [RCV001956676]	uncertain significance	2	25243939	25243939	Human	1	name
152155120	CV1668045	single nucleotide variant	NM_022552.5(DNMT3A):c.2504C>T (p.Thr835Met)	not provided [RCV002221939]	uncertain significance	2	25235800	25235800	Human		name
152059158	CV1670895	single nucleotide variant	NM_022552.5(DNMT3A):c.1978T>C (p.Tyr660His)	Acute myeloid leukemia [RCV005025733]\|Autism spectrum disorder [RCV002226414]\|not provided [RCV003238890]	likely pathogenic\|not provided	2	25241666	25241666	Human	4	name
152982384	CV1677323	single nucleotide variant	NM_022552.5(DNMT3A):c.1676G>A (p.Cys559Tyr)	Acute myeloid leukemia [RCV002249029]	likely pathogenic	2	25244330	25244330	Human	2	name
153304935	CV1687382	single nucleotide variant	NM_022552.5(DNMT3A):c.1906G>A (p.Val636Met)	not provided [RCV002263200]	likely pathogenic	2	25243928	25243928	Human		name
153346519	CV1691799	single nucleotide variant	NM_022552.5(DNMT3A):c.1243C>T (p.Gln415Ter)	Tatton-Brown-Rahman overgrowth syndrome [RCV002273282]	pathogenic	2	25246656	25246656	Human	1	name
153346578	CV1691860	single nucleotide variant	NM_022552.5(DNMT3A):c.2411C>A (p.Pro804Gln)	Tatton-Brown-Rahman overgrowth syndrome [RCV002273343]	uncertain significance	2	25237003	25237003	Human	1	name
153347697	CV1692213	single nucleotide variant	NM_022552.5(DNMT3A):c.2337G>A (p.Met779Ile)	not provided [RCV002273698]	uncertain significance	2	25239201	25239201	Human		name
153349192	CV1694043	single nucleotide variant	NM_022552.5(DNMT3A):c.1787G>A (p.Arg596Gln)	DNMT3A-related disorder [RCV004747071]\|Inborn genetic diseases [RCV003096221]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003585241]\|not provided [RCV002275584]	uncertain significance	2	25244219	25244219	Human	2	name , trait , alternate_id
155266645	CV1699213	single nucleotide variant	NM_022552.5(DNMT3A):c.2327A>C (p.Asn776Thr)	not provided [RCV002283008]	uncertain significance	2	25239211	25239211	Human		name
155265220	CV1704679	single nucleotide variant	NM_022552.5(DNMT3A):c.2729C>T (p.Ala910Val)	Tatton-Brown-Rahman overgrowth syndrome [RCV005096044]\|not provided [RCV002284895]	uncertain significance	2	25234289	25234289	Human	1	name
155643157	CV1706573	single nucleotide variant	NM_022552.5(DNMT3A):c.1585G>A (p.Asp529Asn)	See cases [RCV002287647]	likely pathogenic	2	25244622	25244622	Human		name
155643286	CV1707767	single nucleotide variant	NM_022552.5(DNMT3A):c.2311C>G (p.Arg771Gly)	Tatton-Brown-Rahman overgrowth syndrome [RCV002289228]	likely pathogenic	2	25240313	25240313	Human	1	name
155643851	CV1708161	single nucleotide variant	NM_022552.5(DNMT3A):c.1550G>A (p.Cys517Tyr)	Tatton-Brown-Rahman overgrowth syndrome [RCV002290149]	uncertain significance	2	25245257	25245257	Human	1	name
155645127	CV1710607	single nucleotide variant	NM_022552.5(DNMT3A):c.2185C>T (p.Arg729Trp)	Tatton-Brown-Rahman overgrowth syndrome [RCV005096090]\|not provided [RCV002293903]	uncertain significance	2	25240439	25240439	Human	1	name
155714078	CV1760319	single nucleotide variant	NM_022552.5(DNMT3A):c.2403G>A (p.Met801Ile)	not provided [RCV002300825]	uncertain significance	2	25239135	25239135	Human		name
155749778	CV1772329	single nucleotide variant	NM_022552.5(DNMT3A):c.1675T>C (p.Cys559Arg)	Tatton-Brown-Rahman overgrowth syndrome [RCV002305008]	uncertain significance	2	25244331	25244331	Human	1	name
155748805	CV1772394	single nucleotide variant	NM_022552.5(DNMT3A):c.2009T>C (p.Ile670Thr)	Tatton-Brown-Rahman overgrowth syndrome [RCV002303937]	uncertain significance	2	25241635	25241635	Human	1	name
155717588	CV1780619	single nucleotide variant	NM_022552.5(DNMT3A):c.2076G>C (p.Gln692His)	not provided [RCV002306224]	uncertain significance	2	25241568	25241568	Human		name
155794985	CV1858657	single nucleotide variant	NM_022552.5(DNMT3A):c.2186G>A (p.Arg729Gln)	Tatton-Brown-Rahman overgrowth syndrome [RCV002463468]	likely pathogenic	2	25240438	25240438	Human	1	name
155796943	CV1859184	single nucleotide variant	NM_022552.5(DNMT3A):c.1714G>C (p.Ala572Pro)	not provided [RCV002464812]	uncertain significance	2	25244292	25244292	Human		name
156407964	CV1873137	single nucleotide variant	NM_022552.5(DNMT3A):c.2053G>A (p.Gly685Arg)	Tatton-Brown-Rahman overgrowth syndrome [RCV003071085]	uncertain significance	2	25241591	25241591	Human	1	name
156326565	CV1887273	single nucleotide variant	NM_022552.5(DNMT3A):c.1790G>A (p.Arg597Gln)	Tatton-Brown-Rahman overgrowth syndrome [RCV003089526]	uncertain significance	2	25244216	25244216	Human	1	name
156070320	CV1893363	single nucleotide variant	NM_022552.5(DNMT3A):c.1310C>T (p.Thr437Met)	DNMT3A-related disorder [RCV004747200]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003079518]	uncertain significance	2	25246279	25246279	Human	1	name , trait , alternate_id
155952531	CV1896322	single nucleotide variant	NM_022552.5(DNMT3A):c.2287G>A (p.Val763Ile)	Tatton-Brown-Rahman overgrowth syndrome [RCV003095411]	uncertain significance	2	25240337	25240337	Human	1	name
156059725	CV1924283	single nucleotide variant	NM_022552.5(DNMT3A):c.1446G>T (p.Glu482Asp)	Tatton-Brown-Rahman overgrowth syndrome [RCV002659651]	uncertain significance	2	25246048	25246048	Human	1	name
156358204	CV1925253	single nucleotide variant	NM_022552.5(DNMT3A):c.2245C>T (p.Arg749Cys)	Melanoma [RCV003222461]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002651442]	pathogenic	2	25240379	25240379	Human	3	name
156063946	CV1925801	single nucleotide variant	NM_022552.5(DNMT3A):c.1528G>A (p.Val510Ile)	Tatton-Brown-Rahman overgrowth syndrome [RCV002621039]	likely benign\|uncertain significance	2	25245279	25245279	Human	1	name
156419114	CV1925964	single nucleotide variant	NM_022552.5(DNMT3A):c.1148T>C (p.Leu383Pro)	Tatton-Brown-Rahman overgrowth syndrome [RCV002612332]	uncertain significance	2	25246751	25246751	Human	1	name
156447425	CV1945378	single nucleotide variant	NM_022552.5(DNMT3A):c.2245C>A (p.Arg749Ser)	Tatton-Brown-Rahman overgrowth syndrome [RCV003118953]	uncertain significance	2	25240379	25240379	Human	1	name
156227092	CV2009546	single nucleotide variant	NM_022552.5(DNMT3A):c.1910T>C (p.Leu637Pro)	Tatton-Brown-Rahman overgrowth syndrome [RCV002701222]	uncertain significance	2	25243924	25243924	Human	1	name
156008161	CV2034721	single nucleotide variant	NM_022552.5(DNMT3A):c.1421G>A (p.Arg474His)	Tatton-Brown-Rahman overgrowth syndrome [RCV002779990]	uncertain significance	2	25246168	25246168	Human	1	name
10398689	CV204573	single nucleotide variant	NM_022552.5(DNMT3A):c.1204C>T (p.Gln402Ter)	Early T cell progenitor acute lymphoblastic leukemia [RCV000190418]	pathogenic	2	25246695	25246695	Human	1	name
156056318	CV2050533	single nucleotide variant	NM_022552.5(DNMT3A):c.1270C>T (p.Pro424Ser)	Tatton-Brown-Rahman overgrowth syndrome [RCV002796938]	uncertain significance	2	25246629	25246629	Human	1	name
156323514	CV2053912	single nucleotide variant	NM_022552.5(DNMT3A):c.1817A>G (p.Gln606Arg)	Tatton-Brown-Rahman overgrowth syndrome [RCV002810238]	uncertain significance	2	25244189	25244189	Human	1	name
156228433	CV2115573	single nucleotide variant	NM_022552.5(DNMT3A):c.1055G>A (p.Ser352Asn)	DNMT3A-related disorder [RCV004747152]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002918840]	uncertain significance	2	25247118	25247118	Human	1	name , trait , alternate_id
156158875	CV2118505	single nucleotide variant	NM_022552.5(DNMT3A):c.1127C>A (p.Ala376Asp)	Tatton-Brown-Rahman overgrowth syndrome [RCV002929167]	uncertain significance	2	25246772	25246772	Human	1	name
155958799	CV2138162	single nucleotide variant	NM_022552.5(DNMT3A):c.1114G>A (p.Val372Ile)	DNMT3A-related disorder [RCV004747167]\|Inborn genetic diseases [RCV002979243]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002972277]	uncertain significance	2	25247059	25247059	Human	2	name , trait , alternate_id
156001470	CV2169985	single nucleotide variant	NM_022552.5(DNMT3A):c.1102G>A (p.Ala368Thr)	Tatton-Brown-Rahman overgrowth syndrome [RCV003017293]	uncertain significance	2	25247071	25247071	Human	1	name
156136762	CV2239726	single nucleotide variant	NM_022552.5(DNMT3A):c.1405G>T (p.Glu469Ter)	Inborn genetic diseases [RCV002763277]	pathogenic	2	25246184	25246184	Human	1	name
156054339	CV2388601	single nucleotide variant	NM_022552.5(DNMT3A):c.1833T>A (p.Asn611Lys)	Inborn genetic diseases [RCV002759529]	uncertain significance	2	25244173	25244173	Human	1	name
156435274	CV2403506	single nucleotide variant	NM_022552.5(DNMT3A):c.1280A>T (p.Glu427Val)	Autism spectrum disorder [RCV003127442]	likely benign	2	25246309	25246309	Human	2	name
243062585	CV2404989	single nucleotide variant	NM_022552.5(DNMT3A):c.1627G>A (p.Gly543Ser)	Tatton-Brown-Rahman overgrowth syndrome [RCV003140539]	likely pathogenic	2	25244580	25244580	Human	1	name
243057996	CV2412267	single nucleotide variant	NM_022552.5(DNMT3A):c.1138G>A (p.Ala380Thr)	DNMT3A-related disorder [RCV003966278]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003746659]\|not provided [RCV003146809]	uncertain significance	2	25246761	25246761	Human	1	name , trait , alternate_id
243052228	CV2416114	single nucleotide variant	NM_022552.5(DNMT3A):c.1165G>A (p.Asp389Asn)	not provided [RCV003149174]	uncertain significance	2	25246734	25246734	Human		name
329399847	CV2467651	single nucleotide variant	NM_022552.5(DNMT3A):c.1426A>G (p.Arg476Gly)	Inborn genetic diseases [RCV003221114]	uncertain significance	2	25246163	25246163	Human	1	name
329352371	CV2476782	single nucleotide variant	NM_022552.5(DNMT3A):c.2629G>A (p.Val877Ile)	not provided [RCV003223014]	likely pathogenic\|uncertain significance	2	25234389	25234389	Human		name
329847923	CV2524637	single nucleotide variant	NM_022552.5(DNMT3A):c.1481G>C (p.Cys494Ser)	Tatton-Brown-Rahman overgrowth syndrome [RCV003227566]	pathogenic	2	25245326	25245326	Human	1	name
11588671	CV264079	single nucleotide variant	NM_022552.5(DNMT3A):c.1608C>G (p.Tyr536Ter)	not provided [RCV000304967]	pathogenic	2	25244599	25244599	Human		name
329951955	CV2668289	single nucleotide variant	NM_022552.5(DNMT3A):c.2666T>G (p.Leu889Arg)	Acute myeloid leukemia [RCV003229793]	uncertain significance	2	25234352	25234352	Human	2	name
401723529	CV2672139	single nucleotide variant	NM_022552.5(DNMT3A):c.1300G>C (p.Glu434Gln)	not provided [RCV003239040]	uncertain significance	2	25246289	25246289	Human		name
11595136	CV269141	single nucleotide variant	NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp)	Acute myeloid leukemia [RCV003883148]\|Autism spectrum disorder [RCV003313065]\|DNMT3A-related disorder [RCV004745319]\|Inborn genetic diseases [RCV005328235]\|Tatton-Brown-Rahman overgrowth syndrome [RCV000367312]\|not provided [RCV000433567]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	2	25243931	25243931	Human	7	name , trait , alternate_id
401732739	CV2736756	single nucleotide variant	NM_022552.5(DNMT3A):c.1759G>T (p.Gly587Trp)	not provided [RCV003313518]	uncertain significance	2	25244247	25244247	Human		name
401796833	CV2739808	single nucleotide variant	NM_022552.5(DNMT3A):c.1787G>T (p.Arg596Leu)	not provided [RCV003319769]	uncertain significance	2	25244219	25244219	Human		name
401798230	CV2740012	single nucleotide variant	NM_022552.5(DNMT3A):c.1258A>T (p.Lys420Ter)	Tatton-Brown-Rahman overgrowth syndrome [RCV003320002]	pathogenic	2	25246641	25246641	Human	1	name
401795703	CV2740103	single nucleotide variant	NM_022552.5(DNMT3A):c.1279G>T (p.Glu427Ter)	Tatton-Brown-Rahman overgrowth syndrome [RCV003320345]	pathogenic	2	25246620	25246620	Human	1	name
401829525	CV2743845	single nucleotide variant	NM_022552.5(DNMT3A):c.1916T>C (p.Leu639Pro)	not provided [RCV003327022]	likely pathogenic	2	25243918	25243918	Human		name
401828298	CV2744658	single nucleotide variant	NM_022552.5(DNMT3A):c.2114T>C (p.Ile705Thr)	not provided [RCV003328057]	uncertain significance	2	25240699	25240699	Human		name
401830899	CV2748523	single nucleotide variant	NM_022552.5(DNMT3A):c.2177G>T (p.Gly726Val)	Tatton-Brown-Rahman overgrowth syndrome [RCV003330172]	pathogenic	2	25240447	25240447	Human	1	name
401857060	CV2752084	single nucleotide variant	NM_022552.5(DNMT3A):c.1661G>C (p.Cys554Ser)	DNMT3A-related disorder [RCV004548607]	likely pathogenic	2	25244546	25244546	Human		name , trait , alternate_id
401891192	CV2769132	single nucleotide variant	NM_022552.5(DNMT3A):c.2580G>A (p.Trp860Ter)	Inborn genetic diseases [RCV003369319]\|Intellectual disability [RCV004017987]	pathogenic\|likely pathogenic	2	25235724	25235724	Human	3	name
401915776	CV2795347	single nucleotide variant	NM_022552.5(DNMT3A):c.2390A>G (p.Asn797Ser)	Neurodevelopmental disorder [RCV003389182]	uncertain significance	2	25239148	25239148	Human	1	name
401922919	CV2796617	single nucleotide variant	NM_022552.5(DNMT3A):c.2516C>T (p.Ser839Phe)	DNMT3A-related disorder [RCV003404236]	uncertain significance	2	25235788	25235788	Human		name , trait , alternate_id
401901648	CV2797935	single nucleotide variant	NM_022552.5(DNMT3A):c.1469T>C (p.Ile490Thr)	DNMT3A-related disorder [RCV003393079]\|Inborn genetic diseases [RCV005333597]\|Tatton-Brown-Rahman overgrowth syndrome [RCV005099970]	uncertain significance	2	25246025	25246025	Human	2	name , trait , alternate_id
401923976	CV2800981	single nucleotide variant	NM_022552.5(DNMT3A):c.2626G>A (p.Asp876Asn)	DNMT3A-related disorder [RCV003404572]	uncertain significance	2	25234392	25234392	Human		name , trait , alternate_id
401933573	CV2802079	single nucleotide variant	NM_022552.5(DNMT3A):c.1803G>A (p.Trp601Ter)	DNMT3A-related disorder [RCV003410447]	pathogenic	2	25244203	25244203	Human		name , trait , alternate_id
401910884	CV2815582	single nucleotide variant	NM_022552.5(DNMT3A):c.1385C>A (p.Ala462Glu)	not provided [RCV003425530]	uncertain significance	2	25246204	25246204	Human		name
401929380	CV2815583	single nucleotide variant	NM_022552.5(DNMT3A):c.1273C>G (p.Pro425Ala)	not provided [RCV003407174]	uncertain significance	2	25246626	25246626	Human		name
401914330	CV2830612	single nucleotide variant	NM_022552.5(DNMT3A):c.2114T>G (p.Ile705Ser)	not provided [RCV003442350]	uncertain significance	2	25240699	25240699	Human		name
405867515	CV2842290	single nucleotide variant	NM_022552.5(DNMT3A):c.1319G>A (p.Trp440Ter)	EBV-positive nodal T- and NK-cell lymphoma [RCV004560239]	pathogenic	2	25246270	25246270	Human		name
405149308	CV2856317	single nucleotide variant	NM_022552.5(DNMT3A):c.1280A>G (p.Glu427Gly)	DNMT3A-related disorder [RCV003980975]\|Inborn genetic diseases [RCV005333611]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003585505]	uncertain significance	2	25246309	25246309	Human	2	name , trait , alternate_id
405149138	CV2859423	single nucleotide variant	NM_022552.5(DNMT3A):c.1006T>C (p.Phe336Leu)	Tatton-Brown-Rahman overgrowth syndrome [RCV003585491]	uncertain significance	2	25247599	25247599	Human	1	name
405148450	CV2860740	single nucleotide variant	NM_022552.5(DNMT3A):c.1757G>A (p.Cys586Tyr)	Tatton-Brown-Rahman overgrowth syndrome [RCV003585432]	uncertain significance	2	25244249	25244249	Human	1	name
405140775	CV2883190	single nucleotide variant	NM_022552.5(DNMT3A):c.2204A>C (p.Tyr735Ser)	Tatton-Brown-Rahman overgrowth syndrome [RCV003584092]	uncertain significance	2	25240420	25240420	Human	1	name
405141595	CV2903632	single nucleotide variant	NM_022552.5(DNMT3A):c.2474C>T (p.Ala825Val)	Tatton-Brown-Rahman overgrowth syndrome [RCV003584176]	uncertain significance	2	25236940	25236940	Human	1	name
405142726	CV2911137	single nucleotide variant	NM_022552.5(DNMT3A):c.2416G>A (p.Ala806Thr)	Tatton-Brown-Rahman overgrowth syndrome [RCV003584320]	uncertain significance	2	25236998	25236998	Human	1	name
405141939	CV2918761	single nucleotide variant	NM_022552.5(DNMT3A):c.1289A>G (p.Asn430Ser)	Tatton-Brown-Rahman overgrowth syndrome [RCV003584212]	uncertain significance	2	25246300	25246300	Human	1	name
405142062	CV2919990	single nucleotide variant	NM_022552.5(DNMT3A):c.1778G>A (p.Gly593Glu)	Tatton-Brown-Rahman overgrowth syndrome [RCV003584251]	uncertain significance	2	25244228	25244228	Human	1	name
405142922	CV2922268	single nucleotide variant	NM_022552.5(DNMT3A):c.2707G>C (p.Ala903Pro)	Tatton-Brown-Rahman overgrowth syndrome [RCV003584339]	uncertain significance	2	25234311	25234311	Human	1	name
405143145	CV2928927	single nucleotide variant	NM_022552.5(DNMT3A):c.2446C>G (p.Gln816Glu)	Tatton-Brown-Rahman overgrowth syndrome [RCV003584359]	uncertain significance	2	25236968	25236968	Human	1	name
405248295	CV2947608	single nucleotide variant	NM_022552.5(DNMT3A):c.2259G>A (p.Trp753Ter)	Tatton-Brown-Rahman overgrowth syndrome [RCV003746731]	pathogenic	2	25240365	25240365	Human	1	name
405250247	CV3015278	single nucleotide variant	NM_022552.5(DNMT3A):c.2438T>C (p.Leu813Pro)	Tatton-Brown-Rahman overgrowth syndrome [RCV003747398]	uncertain significance	2	25236976	25236976	Human	1	name
405246892	CV3025363	single nucleotide variant	NM_022552.5(DNMT3A):c.1934C>T (p.Thr645Ile)	Tatton-Brown-Rahman overgrowth syndrome [RCV003746155]	uncertain significance	2	25243900	25243900	Human	1	name
405247209	CV3035116	single nucleotide variant	NM_022552.5(DNMT3A):c.1810C>T (p.Arg604Trp)	Tatton-Brown-Rahman overgrowth syndrome [RCV003746283]	uncertain significance	2	25244196	25244196	Human	1	name
405247628	CV3051378	single nucleotide variant	NM_022552.5(DNMT3A):c.1154C>T (p.Pro385Leu)	Tatton-Brown-Rahman overgrowth syndrome [RCV003746445]	uncertain significance	2	25246745	25246745	Human	1	name
405250443	CV3062460	single nucleotide variant	NM_022552.5(DNMT3A):c.1523T>C (p.Leu508Pro)	Tatton-Brown-Rahman overgrowth syndrome [RCV003747530]	likely pathogenic	2	25245284	25245284	Human	1	name
405250597	CV3070990	single nucleotide variant	NM_022552.5(DNMT3A):c.1766A>G (p.Lys589Arg)	DNMT3A-related disorder [RCV004747369]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003747596]	uncertain significance	2	25244240	25244240	Human	1	name , trait , alternate_id
405250508	CV3075435	duplication	NM_022552.5(DNMT3A):c.2196dup (p.Glu733Ter)	Tatton-Brown-Rahman overgrowth syndrome [RCV003747559]	pathogenic	2	25240427	25240428	Human	1	name
405219153	CV3135801	single nucleotide variant	NM_022552.5(DNMT3A):c.2695C>T (p.Arg899Cys)	Tatton-Brown-Rahman overgrowth syndrome [RCV003824427]	uncertain significance	2	25234323	25234323	Human	1	name
405223576	CV3158438	single nucleotide variant	NM_022552.5(DNMT3A):c.1317G>A (p.Met439Ile)	Tatton-Brown-Rahman overgrowth syndrome [RCV003863934]	uncertain significance	2	25246272	25246272	Human	1	name
405255422	CV3172403	single nucleotide variant	NM_022552.5(DNMT3A):c.1000G>A (p.Gly334Ser)	Tatton-Brown-Rahman overgrowth syndrome [RCV003872341]	uncertain significance	2	25247605	25247605	Human	1	name
405259454	CV3186276	single nucleotide variant	NM_022552.5(DNMT3A):c.1058C>T (p.Ala353Val)	not provided [RCV003884035]	uncertain significance	2	25247115	25247115	Human		name
405260003	CV3186512	single nucleotide variant	NM_022552.5(DNMT3A):c.1802G>A (p.Trp601Ter)	not provided [RCV003884271]	pathogenic	2	25244204	25244204	Human		name
405283003	CV3191209	single nucleotide variant	NM_022552.5(DNMT3A):c.1448T>C (p.Val483Ala)	DNMT3A-related disorder [RCV003921615]	uncertain significance	2	25246046	25246046	Human		name , trait , alternate_id
405257166	CV3222456	single nucleotide variant	NM_022552.5(DNMT3A):c.1627G>C (p.Gly543Arg)	Tatton-Brown-Rahman overgrowth syndrome [RCV003985952]	pathogenic	2	25244580	25244580	Human	1	name
408368130	CV3224478	single nucleotide variant	NM_022552.5(DNMT3A):c.1684T>G (p.Cys562Gly)	Tatton-Brown-Rahman overgrowth syndrome [RCV004723557]	pathogenic	2	25244322	25244322	Human	1	name
408368135	CV3224479	single nucleotide variant	NM_022552.5(DNMT3A):c.1925G>T (p.Gly642Val)	Tatton-Brown-Rahman overgrowth syndrome [RCV004723558]	likely pathogenic	2	25243909	25243909	Human	1	name
408368762	CV3224480	single nucleotide variant	NM_022552.5(DNMT3A):c.1267G>T (p.Glu423Ter)	Tatton-Brown-Rahman overgrowth syndrome [RCV004723559]	likely pathogenic	2	25246632	25246632	Human	1	name
405673680	CV3380082	single nucleotide variant	NM_022552.5(DNMT3A):c.2105A>G (p.Asp702Gly)	Tatton-Brown-Rahman overgrowth syndrome [RCV004515751]	likely pathogenic	2	25240708	25240708	Human	1	name
407427048	CV3409257	single nucleotide variant	NM_022552.5(DNMT3A):c.1333G>A (p.Ala445Thr)	Heyn-Sproul-Jackson syndrome [RCV004585189]	uncertain significance	2	25246256	25246256	Human	1	name
407428038	CV3412315	single nucleotide variant	NM_022552.5(DNMT3A):c.2173G>A (p.Glu725Lys)	not provided [RCV004593483]	uncertain significance	2	25240640	25240640	Human		name
407429460	CV3413756	single nucleotide variant	NM_022552.5(DNMT3A):c.1669T>C (p.Cys557Arg)	Tatton-Brown-Rahman overgrowth syndrome [RCV004595165]	likely pathogenic	2	25244337	25244337	Human	1	name
407457953	CV3416265	single nucleotide variant	NM_022552.5(DNMT3A):c.1760G>A (p.Gly587Glu)	not provided [RCV004599143]	uncertain significance	2	25244246	25244246	Human		name
407505371	CV3437693	single nucleotide variant	NM_022552.5(DNMT3A):c.2606G>C (p.Gly869Ala)	Inborn genetic diseases [RCV004624337]	likely pathogenic	2	25234412	25234412	Human	1	name
407502736	CV3495709	single nucleotide variant	NM_022552.5(DNMT3A):c.2330C>A (p.Pro777His)	not provided [RCV004697549]	likely pathogenic	2	25239208	25239208	Human		name
407460128	CV3496962	single nucleotide variant	NM_022552.5(DNMT3A):c.1759G>A (p.Gly587Arg)	Tatton-Brown-Rahman overgrowth syndrome [RCV004698776]	uncertain significance	2	25244247	25244247	Human	1	name
408365346	CV3499816	single nucleotide variant	NM_022552.5(DNMT3A):c.2327A>G (p.Asn776Ser)	not provided [RCV004721858]	uncertain significance	2	25239211	25239211	Human		name
408374934	CV3502550	single nucleotide variant	NM_022552.5(DNMT3A):c.1981A>G (p.Ile661Val)	not provided [RCV004726137]	uncertain significance	2	25241663	25241663	Human		name
408379151	CV3504002	single nucleotide variant	NM_022552.5(DNMT3A):c.1502A>T (p.Asn501Ile)	DNMT3A-related disorder [RCV004728224]\|Tatton-Brown-Rahman overgrowth syndrome [RCV005103662]	uncertain significance	2	25245305	25245305	Human	1	name , trait , alternate_id
408379135	CV3504101	single nucleotide variant	NM_022552.5(DNMT3A):c.1361C>G (p.Ala454Gly)	DNMT3A-related disorder [RCV004728280]	uncertain significance	2	25246228	25246228	Human		name , trait , alternate_id
408382286	CV3504397	single nucleotide variant	NM_022552.5(DNMT3A):c.1606T>C (p.Tyr536His)	DNMT3A-related disorder [RCV004729740]	uncertain significance	2	25244601	25244601	Human		name , trait , alternate_id
408371191	CV3504839	single nucleotide variant	NM_022552.5(DNMT3A):c.1799A>G (p.Asp600Gly)	DNMT3A-related disorder [RCV004724486]	uncertain significance	2	25244207	25244207	Human		name , trait , alternate_id
408378233	CV3505149	single nucleotide variant	NM_022552.5(DNMT3A):c.1318T>A (p.Trp440Arg)	DNMT3A-related disorder [RCV004727902]	uncertain significance	2	25246271	25246271	Human		name , trait , alternate_id
408378597	CV3505369	single nucleotide variant	NM_022552.5(DNMT3A):c.1190A>C (p.Lys397Thr)	DNMT3A-related disorder [RCV004728042]	uncertain significance	2	25246709	25246709	Human		name , trait , alternate_id
408376287	CV3505759	single nucleotide variant	NM_022552.5(DNMT3A):c.1529T>C (p.Val510Ala)	DNMT3A-related disorder [RCV004726692]	uncertain significance	2	25245278	25245278	Human		name , trait , alternate_id
408374799	CV3507713	single nucleotide variant	NM_022552.5(DNMT3A):c.1959G>C (p.Leu653Phe)	Acute myeloid leukemia [RCV005410974]\|DNMT3A-related disorder [RCV004747510]	uncertain significance	2	25241685	25241685	Human	3	name , trait , alternate_id
408374840	CV3508051	single nucleotide variant	NM_022552.5(DNMT3A):c.1786C>T (p.Arg596Trp)	DNMT3A-related disorder [RCV004747546]	uncertain significance	2	25244220	25244220	Human		name , trait , alternate_id
408374863	CV3508197	single nucleotide variant	NM_022552.5(DNMT3A):c.1463G>A (p.Arg488Gln)	DNMT3A-related disorder [RCV004747566]\|Tatton-Brown-Rahman overgrowth syndrome [RCV005059810]	uncertain significance	2	25246031	25246031	Human	1	name , trait , alternate_id
408374976	CV3509027	single nucleotide variant	NM_022552.5(DNMT3A):c.1797G>T (p.Glu599Asp)	DNMT3A-related disorder [RCV004747672]	uncertain significance	2	25244209	25244209	Human		name , trait , alternate_id
408373791	CV3512669	single nucleotide variant	NM_022552.5(DNMT3A):c.1373G>A (p.Arg458Gln)	DNMT3A-related disorder [RCV004745726]	uncertain significance	2	25246216	25246216	Human		name , trait , alternate_id
408373899	CV3513336	single nucleotide variant	NM_022552.5(DNMT3A):c.2374C>T (p.Arg792Cys)	DNMT3A-related disorder [RCV004745830]	uncertain significance	2	25239164	25239164	Human		name , trait , alternate_id
408374187	CV3515123	single nucleotide variant	NM_022552.5(DNMT3A):c.1232T>A (p.Leu411Gln)	DNMT3A-related disorder [RCV004746073]\|Inborn genetic diseases [RCV004981195]	uncertain significance	2	25246667	25246667	Human	1	name , trait , alternate_id
408374569	CV3517249	single nucleotide variant	NM_022552.5(DNMT3A):c.1276G>A (p.Glu426Lys)	DNMT3A-related disorder [RCV004746901]\|Tatton-Brown-Rahman overgrowth syndrome [RCV005103891]	uncertain significance	2	25246623	25246623	Human	1	name , trait , alternate_id
408374688	CV3518001	single nucleotide variant	NM_022552.5(DNMT3A):c.1465A>C (p.Asn489His)	DNMT3A-related disorder [RCV004747014]\|Inborn genetic diseases [RCV005325924]\|Tatton-Brown-Rahman overgrowth syndrome [RCV005104904]	uncertain significance	2	25246029	25246029	Human	2	name , trait , alternate_id
408389956	CV3519154	single nucleotide variant	NM_022552.5(DNMT3A):c.2411C>G (p.Pro804Arg)	not provided [RCV004762463]	uncertain significance	2	25237003	25237003	Human		name
408392560	CV3528176	single nucleotide variant	NM_022552.5(DNMT3A):c.2096G>A (p.Gly699Asp)	not provided [RCV004775944]	likely pathogenic	2	25240717	25240717	Human		name
596931019	CV3529861	single nucleotide variant	NM_022552.5(DNMT3A):c.1681G>A (p.Glu561Lys)	not provided [RCV004780911]	uncertain significance	2	25244325	25244325	Human		name
596922637	CV3530023	single nucleotide variant	NM_022552.5(DNMT3A):c.1897C>G (p.Pro633Ala)	not provided [RCV004776622]	uncertain significance	2	25243937	25243937	Human		name
596931633	CV3531909	single nucleotide variant	NM_022552.5(DNMT3A):c.1975C>T (p.Arg659Cys)	not provided [RCV004781471]	uncertain significance	2	25241669	25241669	Human		name
596922389	CV3537189	single nucleotide variant	NM_022552.5(DNMT3A):c.2410C>T (p.Pro804Ser)	not provided [RCV004786185]	uncertain significance	2	25237004	25237004	Human		name
596929208	CV3540863	single nucleotide variant	NM_022552.5(DNMT3A):c.1901T>C (p.Ile634Thr)	not provided [RCV004795192]	uncertain significance	2	25243933	25243933	Human		name
12742581	CV359463	single nucleotide variant	NM_022552.5(DNMT3A):c.2711C>T (p.Pro904Leu)	Autism spectrum disorder [RCV003233631]\|EBV-positive nodal T- and NK-cell lymphoma [RCV004559047]\|Tatton-Brown-Rahman overgrowth syndrome [RCV004725203]\|not provided [RCV000413992]	pathogenic\|likely pathogenic\|not provided	2	25234307	25234307	Human	3	name
12848691	CV362758	single nucleotide variant	NM_022552.5(DNMT3A):c.2645G>T (p.Arg882Leu)	Acute myeloid leukemia [RCV000445240]	pathogenic	2	25234373	25234373	Human	1	name
12834487	CV362759	single nucleotide variant	NM_022552.5(DNMT3A):c.2645G>C (p.Arg882Pro)	Acute myeloid leukemia [RCV000436723]\|Lung adenocarcinoma [RCV000419470]\|Myelodysplastic syndrome [RCV000427788]	pathogenic\|likely pathogenic	2	25234373	25234373	Human	3	name
12834396	CV362760	single nucleotide variant	NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His)	Abnormality of the nervous system [RCV001814155]\|Acute myeloid leukemia [RCV000430182]\|Clonal Cytopenia of Undetermined Significance [RCV003153242]\|DNMT3A-related disorder [RCV004545768]\|EBV-positive nodal T- and NK-cell lymphoma [RCV004559051]\|Inborn genetic di ... (more) seases [RCV000623601]\|Intellectual disability [RCV004017608]\|Tatton-Brown-Rahman overgrowth syndrome [RCV000524775]\|not provided [RCV000485343]\|not specified [RCV002248654]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	2	25234373	25234373	Human	8	name , trait , alternate_id
12845425	CV362761	single nucleotide variant	NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys)	Acute myeloid leukemia [RCV000429128]\|DNMT3A-related disorder [RCV004745372]\|EBV-positive nodal T- and NK-cell lymphoma [RCV004559052]\|Inborn genetic diseases [RCV001267371]\|Neurodevelopmental disorder [RCV001374980]\|Tatton-Brown-Rahman overgrowth syndrome [RCV0 ... (more) 00590987]\|not provided [RCV001552894]	pathogenic\|likely pathogenic	2	25234374	25234374	Human	5	name , trait , alternate_id
12848651	CV362762	single nucleotide variant	NM_022552.5(DNMT3A):c.2644C>G (p.Arg882Gly)	Acute myeloid leukemia [RCV000427931]	pathogenic	2	25234374	25234374	Human	1	name
12848673	CV362763	single nucleotide variant	NM_022552.5(DNMT3A):c.2644C>A (p.Arg882Ser)	Tatton-Brown-Rahman overgrowth syndrome [RCV003766178]\|not provided [RCV001782899]	pathogenic\|likely pathogenic\|uncertain significance	2	25234374	25234374	Human	1	name
597649355	CV3659331	single nucleotide variant	NM_022552.5(DNMT3A):c.2504C>G (p.Thr835Arg)	Inborn genetic diseases [RCV004974362]	uncertain significance	2	25235800	25235800	Human	1	name
597649375	CV3659334	single nucleotide variant	NM_022552.5(DNMT3A):c.1249T>A (p.Ser417Thr)	Inborn genetic diseases [RCV004974365]	uncertain significance	2	25246650	25246650	Human	1	name
597649410	CV3659340	single nucleotide variant	NM_022552.5(DNMT3A):c.1480T>A (p.Cys494Ser)	Inborn genetic diseases [RCV004974371]	uncertain significance	2	25245327	25245327	Human	1	name
597649416	CV3659341	single nucleotide variant	NM_022552.5(DNMT3A):c.2654G>C (p.Arg885Thr)	Inborn genetic diseases [RCV004974372]	uncertain significance	2	25234364	25234364	Human	1	name
597649421	CV3659342	single nucleotide variant	NM_022552.5(DNMT3A):c.1699G>T (p.Val567Leu)	Inborn genetic diseases [RCV004974373]	uncertain significance	2	25244307	25244307	Human	1	name
597649457	CV3659347	single nucleotide variant	NM_022552.5(DNMT3A):c.1804C>A (p.Pro602Thr)	Inborn genetic diseases [RCV004974378]	uncertain significance	2	25244202	25244202	Human	1	name
597649483	CV3659351	single nucleotide variant	NM_022552.5(DNMT3A):c.1327C>T (p.Pro443Ser)	Inborn genetic diseases [RCV004974382]	uncertain significance	2	25246262	25246262	Human	1	name
597649514	CV3659357	single nucleotide variant	NM_022552.5(DNMT3A):c.1459T>C (p.Cys487Arg)	Inborn genetic diseases [RCV004974387]	uncertain significance	2	25246035	25246035	Human	1	name
597649528	CV3659359	single nucleotide variant	NM_022552.5(DNMT3A):c.1769G>C (p.Gly590Ala)	Inborn genetic diseases [RCV004974389]	uncertain significance	2	25244237	25244237	Human	1	name
597649547	CV3659362	single nucleotide variant	NM_022552.5(DNMT3A):c.1591G>C (p.Asp531His)	Inborn genetic diseases [RCV004974392]	uncertain significance	2	25244616	25244616	Human	1	name
597649551	CV3659363	single nucleotide variant	NM_022552.5(DNMT3A):c.1376A>G (p.Lys459Arg)	Inborn genetic diseases [RCV004974393]	uncertain significance	2	25246213	25246213	Human	1	name
597649562	CV3659365	single nucleotide variant	NM_022552.5(DNMT3A):c.1152C>G (p.Phe384Leu)	Inborn genetic diseases [RCV004974395]	uncertain significance	2	25246747	25246747	Human	1	name
12849016	CV366310	single nucleotide variant	NM_022552.5(DNMT3A):c.2213T>G (p.Leu738Arg)	not provided [RCV000422670]	likely pathogenic	2	25240411	25240411	Human		name
12849997	CV366311	single nucleotide variant	NM_022552.5(DNMT3A):c.1684T>C (p.Cys562Arg)	Tatton-Brown-Rahman overgrowth syndrome [RCV000536842]\|not provided [RCV000439792]	likely pathogenic\|uncertain significance	2	25244322	25244322	Human	1	name
12843655	CV366533	single nucleotide variant	NM_022552.5(DNMT3A):c.1743G>T (p.Trp581Cys)	Tatton-Brown-Rahman overgrowth syndrome [RCV000515481]\|not provided [RCV000436598]	uncertain significance	2	25244263	25244263	Human	1	name
597716972	CV3733307	single nucleotide variant	NM_022552.5(DNMT3A):c.2068G>A (p.Val690Ile)	not provided [RCV005052497]	uncertain significance	2	25241576	25241576	Human		name
597854015	CV3747565	single nucleotide variant	NM_022552.5(DNMT3A):c.1227G>A (p.Trp409Ter)	Tatton-Brown-Rahman overgrowth syndrome [RCV005066576]	pathogenic	2	25246672	25246672	Human	1	name
597843828	CV3752412	single nucleotide variant	NM_022552.5(DNMT3A):c.1031T>C (p.Leu344Pro)	Tatton-Brown-Rahman overgrowth syndrome [RCV005086818]	uncertain significance	2	25247142	25247142	Human	1	name
597875149	CV3766272	single nucleotide variant	NM_022552.5(DNMT3A):c.1124T>G (p.Val375Gly)	Tatton-Brown-Rahman overgrowth syndrome [RCV005108404]	uncertain significance	2	25246775	25246775	Human	1	name
597925189	CV3778151	single nucleotide variant	NM_022552.5(DNMT3A):c.1647C>G (p.Cys549Trp)	Tatton-Brown-Rahman overgrowth syndrome [RCV005130875]	uncertain significance	2	25244560	25244560	Human	1	name
597927484	CV3783470	duplication	NM_022552.5(DNMT3A):c.1577dup (p.Tyr526Ter)	Tatton-Brown-Rahman overgrowth syndrome [RCV005116157]	pathogenic	2	25244629	25244630	Human	1	name
597946499	CV3790146	single nucleotide variant	NM_022552.5(DNMT3A):c.1711G>A (p.Ala571Thr)	Tatton-Brown-Rahman overgrowth syndrome [RCV005134847]	uncertain significance	2	25244295	25244295	Human	1	name
597952083	CV3798483	single nucleotide variant	NM_022552.5(DNMT3A):c.2405A>G (p.Asn802Ser)	Tatton-Brown-Rahman overgrowth syndrome [RCV005136264]	uncertain significance	2	25239133	25239133	Human	1	name
597937918	CV3807948	single nucleotide variant	NM_022552.5(DNMT3A):c.1668G>T (p.Arg556Ser)	Tatton-Brown-Rahman overgrowth syndrome [RCV005158327]	uncertain significance	2	25244338	25244338	Human	1	name
597920824	CV3807986	single nucleotide variant	NM_022552.5(DNMT3A):c.1945G>A (p.Val649Met)	Tatton-Brown-Rahman overgrowth syndrome [RCV005155694]	uncertain significance	2	25241699	25241699	Human	1	name
597875292	CV3813099	single nucleotide variant	NM_022552.5(DNMT3A):c.2384G>A (p.Trp795Ter)	Tatton-Brown-Rahman overgrowth syndrome [RCV005149035]	pathogenic	2	25239154	25239154	Human	1	name
597929215	CV3816050	single nucleotide variant	NM_022552.5(DNMT3A):c.2259G>T (p.Trp753Cys)	Tatton-Brown-Rahman overgrowth syndrome [RCV005156631]	uncertain significance	2	25240365	25240365	Human	1	name
597970328	CV3832437	single nucleotide variant	NM_022552.5(DNMT3A):c.2093G>A (p.Trp698Ter)	Tatton-Brown-Rahman overgrowth syndrome [RCV005166516]	pathogenic	2	25240720	25240720	Human	1	name
597947183	CV3841835	single nucleotide variant	NM_022552.5(DNMT3A):c.1066C>T (p.Gln356Ter)	Tatton-Brown-Rahman overgrowth syndrome [RCV005189269]	pathogenic	2	25247107	25247107	Human	1	name
597871761	CV3849376	single nucleotide variant	NM_022552.5(DNMT3A):c.1420C>T (p.Arg474Cys)	Tatton-Brown-Rahman overgrowth syndrome [RCV005197557]	uncertain significance	2	25246169	25246169	Human	1	name
598126891	CV3882350	single nucleotide variant	NM_022552.5(DNMT3A):c.1919T>C (p.Phe640Ser)	not provided [RCV005233901]	uncertain significance	2	25243915	25243915	Human		name
598201151	CV3892749	single nucleotide variant	NM_022552.5(DNMT3A):c.2598G>C (p.Arg866Ser)	not provided [RCV005254582]	uncertain significance	2	25234420	25234420	Human		name
598203277	CV3892869	single nucleotide variant	NM_022552.5(DNMT3A):c.2320G>A (p.Glu774Lys)	not provided [RCV005255199]	uncertain significance	2	25240304	25240304	Human		name
598238587	CV3893316	single nucleotide variant	NM_022552.5(DNMT3A):c.1094A>G (p.Tyr365Cys)	not provided [RCV005256049]	uncertain significance	2	25247079	25247079	Human		name
598225953	CV3894319	single nucleotide variant	NM_022552.5(DNMT3A):c.2129G>A (p.Cys710Tyr)	not provided [RCV005257562]	uncertain significance	2	25240684	25240684	Human		name
598216874	CV3895263	single nucleotide variant	NM_022552.5(DNMT3A):c.1776C>A (p.Tyr592Ter)	Tatton-Brown-Rahman overgrowth syndrome [RCV005360161]	uncertain significance	2	25244230	25244230	Human	1	name
598164877	CV3964248	single nucleotide variant	NM_022552.5(DNMT3A):c.2021T>G (p.Met674Arg)	Inborn genetic diseases [RCV005329593]	uncertain significance	2	25241623	25241623	Human	1	name
598164882	CV3964249	single nucleotide variant	NM_022552.5(DNMT3A):c.1304T>C (p.Val435Ala)	Inborn genetic diseases [RCV005329594]	uncertain significance	2	25246285	25246285	Human	1	name
598164934	CV3964260	single nucleotide variant	NM_022552.5(DNMT3A):c.1303G>T (p.Val435Leu)	Inborn genetic diseases [RCV005329605]	uncertain significance	2	25246286	25246286	Human	1	name
598164954	CV3964265	single nucleotide variant	NM_022552.5(DNMT3A):c.1295A>G (p.Tyr432Cys)	Inborn genetic diseases [RCV005329610]	uncertain significance	2	25246294	25246294	Human	1	name
598164974	CV3964269	single nucleotide variant	NM_022552.5(DNMT3A):c.1406A>C (p.Glu469Ala)	Inborn genetic diseases [RCV005329614]	uncertain significance	2	25246183	25246183	Human	1	name
598164983	CV3964271	single nucleotide variant	NM_022552.5(DNMT3A):c.1402A>G (p.Lys468Glu)	Inborn genetic diseases [RCV005329616]	uncertain significance	2	25246187	25246187	Human	1	name
598164997	CV3964274	single nucleotide variant	NM_022552.5(DNMT3A):c.2419T>A (p.Ser807Thr)	Inborn genetic diseases [RCV005329619]	uncertain significance	2	25236995	25236995	Human	1	name
598165011	CV3964277	single nucleotide variant	NM_022552.5(DNMT3A):c.1719G>T (p.Gln573His)	Inborn genetic diseases [RCV005329622]	uncertain significance	2	25244287	25244287	Human	1	name
598165021	CV3964279	single nucleotide variant	NM_022552.5(DNMT3A):c.1547A>C (p.Asn516Thr)	Inborn genetic diseases [RCV005329624]	uncertain significance	2	25245260	25245260	Human	1	name
598165025	CV3964280	single nucleotide variant	NM_022552.5(DNMT3A):c.1692C>A (p.Asp564Glu)	Inborn genetic diseases [RCV005329625]	uncertain significance	2	25244314	25244314	Human	1	name
598165055	CV3964286	single nucleotide variant	NM_022552.5(DNMT3A):c.2426T>C (p.Val809Ala)	Inborn genetic diseases [RCV005329631]	uncertain significance	2	25236988	25236988	Human	1	name
598165137	CV3964303	single nucleotide variant	NM_022552.5(DNMT3A):c.1087C>A (p.Pro363Thr)	Inborn genetic diseases [RCV005329648]	uncertain significance	2	25247086	25247086	Human	1	name
598165180	CV3964312	single nucleotide variant	NM_022552.5(DNMT3A):c.2231A>C (p.Lys744Thr)	Inborn genetic diseases [RCV005329657]	uncertain significance	2	25240393	25240393	Human	1	name
598165197	CV3964316	single nucleotide variant	NM_022552.5(DNMT3A):c.1893G>T (p.Arg631Ser)	Inborn genetic diseases [RCV005329661]	uncertain significance	2	25243941	25243941	Human	1	name
598165216	CV3964320	single nucleotide variant	NM_022552.5(DNMT3A):c.1178G>A (p.Ser393Asn)	Inborn genetic diseases [RCV005329665]	uncertain significance	2	25246721	25246721	Human	1	name
598165218	CV3964321	single nucleotide variant	NM_022552.5(DNMT3A):c.1796A>C (p.Glu599Ala)	Inborn genetic diseases [RCV005329666]	uncertain significance	2	25244210	25244210	Human	1	name
598165223	CV3964322	single nucleotide variant	NM_022552.5(DNMT3A):c.1369C>T (p.Pro457Ser)	Inborn genetic diseases [RCV005329667]	uncertain significance	2	25246220	25246220	Human	1	name
598165241	CV3964326	single nucleotide variant	NM_022552.5(DNMT3A):c.2386G>T (p.Gly796Cys)	Inborn genetic diseases [RCV005329671]	likely pathogenic	2	25239152	25239152	Human	1	name
598165250	CV3964328	single nucleotide variant	NM_022552.5(DNMT3A):c.1372C>T (p.Arg458Trp)	Inborn genetic diseases [RCV005329673]	uncertain significance	2	25246217	25246217	Human	1	name
616938277	CV4013045	single nucleotide variant	NM_022552.5(DNMT3A):c.1906G>T (p.Val636Leu)	not provided [RCV005410512]	likely pathogenic	2	25243928	25243928	Human		name
616933386	CV4013726	single nucleotide variant	NM_022552.5(DNMT3A):c.1988C>A (p.Ser663Ter)	Tatton-Brown-Rahman overgrowth syndrome [RCV005411211]	likely pathogenic	2	25241656	25241656	Human	1	name
616938422	CV4014960	single nucleotide variant	NM_022552.5(DNMT3A):c.1588G>A (p.Asp530Asn)	not provided [RCV005411976]	uncertain significance	2	25244619	25244619	Human		name
617153712	CV4016787	single nucleotide variant	NM_022552.5(DNMT3A):c.1600C>T (p.Gln534Ter)	not provided [RCV005415884]	uncertain significance	2	25244607	25244607	Human		name
12895365	CV405690	single nucleotide variant	NM_022552.5(DNMT3A):c.2311C>T (p.Arg771Ter)	Acute myeloid leukemia [RCV003338604]\|Tatton-Brown-Rahman overgrowth syndrome [RCV001237885]\|not provided [RCV000486209]	pathogenic	2	25240313	25240313	Human	3	name
12894511	CV405691	single nucleotide variant	NM_022552.5(DNMT3A):c.1748G>A (p.Cys583Tyr)	not provided [RCV000483070]	pathogenic\|likely pathogenic	2	25244258	25244258	Human		name
12895550	CV405692	single nucleotide variant	NM_022552.5(DNMT3A):c.1628G>A (p.Gly543Asp)	not provided [RCV000486870]	pathogenic\|likely pathogenic	2	25244579	25244579	Human		name
13213971	CV428048	single nucleotide variant	NM_022552.5(DNMT3A):c.1135C>T (p.Arg379Cys)	DNMT3A-related disorder [RCV003403163]\|Tatton-Brown-Rahman overgrowth syndrome [RCV005091091]\|not provided [RCV002275043]\|not specified [RCV000500674]	uncertain significance	2	25246764	25246764	Human	1	name , trait , alternate_id
13435448	CV431903	single nucleotide variant	NM_022552.5(DNMT3A):c.2312G>A (p.Arg771Gln)	Acute myeloid leukemia [RCV004796213]\|Inborn genetic diseases [RCV000624769]\|Tatton-Brown-Rahman overgrowth syndrome [RCV000505187]	pathogenic\|likely pathogenic	2	25240312	25240312	Human	4	name
13485659	CV443220	single nucleotide variant	NM_022552.5(DNMT3A):c.1063C>T (p.His355Tyr)	not provided [RCV000522668]	uncertain significance	2	25247110	25247110	Human		name
13521294	CV495150	indel	NM_022552.5(DNMT3A):c.1015-3_1015-1delinsAA	not provided [RCV000599335]	pathogenic	2	25247159	25247161	Human		name
13592890	CV511415	single nucleotide variant	NM_022552.5(DNMT3A):c.2536C>T (p.Gln846Ter)	Inborn genetic diseases [RCV000624328]	pathogenic	2	25235768	25235768	Human	1	name
13530872	CV511416	single nucleotide variant	NM_022552.5(DNMT3A):c.2312G>T (p.Arg771Leu)	Inborn genetic diseases [RCV000622849]	uncertain significance	2	25240312	25240312	Human	1	name
13703146	CV537347	single nucleotide variant	NM_022552.5(DNMT3A):c.2141C>G (p.Ser714Cys)	Tatton-Brown-Rahman overgrowth syndrome [RCV001251185]\|not provided [RCV000658860]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	2	25240672	25240672	Human	1	name
13786260	CV550351	single nucleotide variant	NM_022552.5(DNMT3A):c.2086C>T (p.Gln696Ter)	Tatton-Brown-Rahman overgrowth syndrome [RCV000677427]	likely pathogenic	2	25240727	25240727	Human	1	name
13783997	CV550586	single nucleotide variant	NM_022552.5(DNMT3A):c.1634A>G (p.Glu545Gly)	Tatton-Brown-Rahman overgrowth syndrome [RCV000677682]	likely pathogenic	2	25244573	25244573	Human	1	name
13820851	CV576102	single nucleotide variant	NM_022552.5(DNMT3A):c.1913C>G (p.Ser638Cys)	Tatton-Brown-Rahman overgrowth syndrome [RCV000709939]	not provided	2	25243921	25243921	Human		name
14395680	CV611383	single nucleotide variant	NM_022552.5(DNMT3A):c.2525A>G (p.Gln842Arg)	Acute myeloid leukemia [RCV000760250]	likely pathogenic	2	25235779	25235779	Human	2	name
14696635	CV622947	single nucleotide variant	NM_022552.5(DNMT3A):c.2710C>T (p.Pro904Ser)	Glioblastoma [RCV000785978]	likely pathogenic	2	25234308	25234308	Human	2	name
14736208	CV629751	single nucleotide variant	NM_022552.5(DNMT3A):c.2495C>T (p.Thr832Ile)	Tatton-Brown-Rahman overgrowth syndrome [RCV000803514]	likely pathogenic	2	25235809	25235809	Human	1	name
14720086	CV629752	single nucleotide variant	NM_022552.5(DNMT3A):c.2385G>A (p.Trp795Ter)	Tatton-Brown-Rahman overgrowth syndrome [RCV000812887]	pathogenic	2	25239153	25239153	Human	1	name
14724541	CV629753	single nucleotide variant	NM_022552.5(DNMT3A):c.2309C>T (p.Ser770Leu)	Tatton-Brown-Rahman overgrowth syndrome [RCV000798433]\|not provided [RCV001585724]	pathogenic\|uncertain significance	2	25240315	25240315	Human	1	name
14741697	CV629754	single nucleotide variant	NM_022552.5(DNMT3A):c.2063G>A (p.Arg688His)	Inborn genetic diseases [RCV001267190]\|Tatton-Brown-Rahman overgrowth syndrome [RCV000805932]\|not provided [RCV001567102]	pathogenic\|uncertain significance	2	25241581	25241581	Human	2	name
14727347	CV629755	single nucleotide variant	NM_022552.5(DNMT3A):c.1490G>C (p.Cys497Ser)	Tatton-Brown-Rahman overgrowth syndrome [RCV000816045]	uncertain significance	2	25245317	25245317	Human	1	name
21066911	CV795203	single nucleotide variant	NM_022552.5(DNMT3A):c.1840G>A (p.Asp614Asn)	not provided [RCV000997083]	uncertain significance	2	25244166	25244166	Human		name
21404859	CV801063	single nucleotide variant	NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys)	DNMT3A-related disorder [RCV004746194]\|Malignant lymphoma, large B-cell, diffuse [RCV003448984]\|Myeloproliferative disorder [RCV001003798]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002471010]\|not provided [RCV001776076]\|not specified [RCV002249617]	pathogenic\|likely pathogenic\|uncertain significance	2	25240420	25240420	Human	4	name , trait , alternate_id
26898946	CV826112	single nucleotide variant	NM_022552.5(DNMT3A):c.2546C>A (p.Pro849His)	Tatton-Brown-Rahman overgrowth syndrome [RCV001034840]	uncertain significance	2	25235758	25235758	Human	1	name
26920853	CV826113	single nucleotide variant	NM_022552.5(DNMT3A):c.1706C>T (p.Pro569Leu)	DNMT3A-related disorder [RCV004746225]\|Tatton-Brown-Rahman overgrowth syndrome [RCV001060402]\|not provided [RCV001776115]	uncertain significance	2	25244300	25244300	Human	1	name , trait , alternate_id
28907523	CV859151	single nucleotide variant	NM_022552.5(DNMT3A):c.1904G>A (p.Arg635Gln)	Tatton-Brown-Rahman overgrowth syndrome [RCV001384970]\|not provided [RCV001093354]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	2	25243930	25243930	Human	1	name
28907569	CV859153	single nucleotide variant	NM_022552.5(DNMT3A):c.1443C>A (p.Tyr481Ter)	not provided [RCV001093356]	likely pathogenic	2	25246051	25246051	Human		name
38500088	CV953021	single nucleotide variant	NM_022552.5(DNMT3A):c.1363A>T (p.Lys455Ter)	Tatton-Brown-Rahman overgrowth syndrome [RCV001245491]	pathogenic	2	25246226	25246226	Human	1	name
38597609	CV965326	single nucleotide variant	NM_022552.5(DNMT3A):c.2146G>A (p.Val716Ile)	not provided [RCV001254801]	pathogenic	2	25240667	25240667	Human		name
39456282	CV966508	single nucleotide variant	NM_022552.5(DNMT3A):c.1668G>C (p.Arg556Ser)	Rare genetic intellectual disability [RCV001256990]	likely pathogenic	2	25244338	25244338	Human		name
40814405	CV969340	single nucleotide variant	NM_022552.5(DNMT3A):c.2722T>A (p.Tyr908Asn)	Intellectual disability [RCV001260611]	likely pathogenic	2	25234296	25234296	Human	2	name
40814404	CV969341	single nucleotide variant	NM_022552.5(DNMT3A):c.2206C>T (p.Arg736Cys)	Intellectual disability [RCV001260610]\|Tatton-Brown-Rahman overgrowth syndrome [RCV001340498]\|not provided [RCV003319458]	pathogenic\|likely pathogenic\|uncertain significance	2	25240418	25240418	Human	3	name
40886877	CV973295	single nucleotide variant	NM_022552.5(DNMT3A):c.1643T>C (p.Met548Thr)	Inborn genetic diseases [RCV001266174]\|not provided [RCV004720833]	pathogenic\|likely pathogenic	2	25244564	25244564	Human	1	name
40904023	CV976226	single nucleotide variant	NM_022552.5(DNMT3A):c.1097G>A (p.Arg366His)	Tatton-Brown-Rahman overgrowth syndrome [RCV003746587]\|not provided [RCV001269839]	likely pathogenic\|uncertain significance	2	25247076	25247076	Human	1	name
41406128	CV980225	single nucleotide variant	NM_022552.5(DNMT3A):c.2726T>C (p.Phe909Ser)	DNMT3A-related disorder [RCV004746305]\|not provided [RCV001280739]	pathogenic\|uncertain significance	2	25234292	25234292	Human		name , trait , alternate_id
41408065	CV980675	single nucleotide variant	NM_022552.5(DNMT3A):c.1345G>A (p.Ala449Thr)	Tatton-Brown-Rahman overgrowth syndrome [RCV003584877]	uncertain significance	2	25246244	25246244	Human	1	name
126733991	CV988570	single nucleotide variant	NM_022552.5(DNMT3A):c.2026C>T (p.Arg676Trp)	Tatton-Brown-Rahman overgrowth syndrome [RCV001294838]	uncertain significance	2	25241618	25241618	Human	1	name
12895554	CV405696	duplication	NM_022552.5(DNMT3A):c.130_131dup (p.Ala45fs)	not provided [RCV000486884]	likely pathogenic	2	25300184	25300185	Human		name
405867508	CV2842287	duplication	NM_022552.5(DNMT3A):c.754_760dup (p.Ala254fs)	EBV-positive nodal T- and NK-cell lymphoma [RCV004560236]	pathogenic	2	25248131	25248132	Human		name
405142792	CV2931046	deletion	NM_022552.5(DNMT3A):c.867_870del (p.Phe290fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV003584327]	pathogenic	2	25247735	25247738	Human	1	name
404993504	CV3132484	indel	NM_022552.5(DNMT3A):c.1937-18_1937-17delinsTC	Tatton-Brown-Rahman overgrowth syndrome [RCV003827423]	uncertain significance	2	25241724	25241725	Human		name
597883025	CV3784191	deletion	NM_022552.5(DNMT3A):c.663_675del (p.Ile221fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV005124480]	pathogenic	2	25248217	25248229	Human	1	name
598232948	CV3886499	deletion	NM_022552.5(DNMT3A):c.760_767del (p.Ala254fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV005255943]	pathogenic	2	25248125	25248132	Human	1	name
12895245	CV405694	deletion	NM_022552.5(DNMT3A):c.700_709del (p.Gly234fs)	not provided [RCV000485726]	likely pathogenic	2	25248183	25248192	Human		name
8696160	CV143238	deletion	NM_022552.5(DNMT3A):c.889_891del (p.Trp297del)	Tatton-Brown-Rahman overgrowth syndrome [RCV000128558]	pathogenic	2	25247714	25247716	Human	1	name
243057989	CV2412265	microsatellite	NM_022552.5(DNMT3A):c.1077CAA[1] (p.Asn360del)	not provided [RCV003146807]	uncertain significance	2	25247091	25247093	Human		name
401936113	CV2796255	microsatellite	NM_022552.5(DNMT3A):c.2190CTT[1] (p.Phe732del)	DNMT3A-related disorder [RCV003414084]\|Tatton-Brown-Rahman overgrowth syndrome [RCV003585390]	uncertain significance	2	25240429	25240431	Human		name , trait , alternate_id
407574638	CV3499649	microsatellite	NM_022552.5(DNMT3A):c.2252TCT[1] (p.Phe752del)	not provided [RCV004720142]	likely pathogenic	2	25240367	25240369	Human		name
597648888	CV3551694	microsatellite	NM_022552.5(DNMT3A):c.1583ACG[3] (p.Asp531del)	not provided [RCV004820407]	uncertain significance	2	25244613	25244615	Human		name
34890526	CV904282	deletion	NM_022552.5(DNMT3A):c.911_913del (p.Ser304del)	Heyn-Sproul-Jackson syndrome [RCV002510586]\|Inborn genetic diseases [RCV001266051]\|Tatton-Brown-Rahman overgrowth syndrome [RCV002558718]\|not provided [RCV001171613]	pathogenic\|likely pathogenic\|uncertain significance	2	25247692	25247694	Human	3	name
156251266	CV2082606	deletion	NM_022552.5(DNMT3A):c.1004_1011del (p.Lys335fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV002876950]	pathogenic	2	25247594	25247601	Human	1	name
155950325	CV2123450	duplication	NM_022552.5(DNMT3A):c.1342_1343dup (p.Ala449fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV002971830]	pathogenic	2	25246245	25246246	Human	1	name
243055028	CV2407251	deletion	NM_022552.5(DNMT3A):c.2051_2055del (p.Val684fs)	not provided [RCV003144801]	likely pathogenic	2	25241589	25241593	Human		name
329846550	CV2523778	duplication	NM_022552.5(DNMT3A):c.1353_1356dup (p.Pro453fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV003226068]	uncertain significance	2	25246232	25246233	Human	1	name
408374803	CV3507726	duplication	NM_022552.5(DNMT3A):c.1761_1762dup (p.His588fs)	DNMT3A-related disorder [RCV004747513]	likely pathogenic	2	25244243	25244244	Human		name , trait , alternate_id
408375017	CV3508927	duplication	NM_022552.5(DNMT3A):c.1602_1615dup (p.Ile539fs)	DNMT3A-related disorder [RCV004747659]	likely pathogenic	2	25244591	25244592	Human		name , trait , alternate_id
408393538	CV3526182	deletion	NM_022552.5(DNMT3A):c.2593_2594del (p.Glu865fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV004771614]	pathogenic	2	25235710	25235711	Human	1	name
596925031	CV3541790	deletion	NM_022552.5(DNMT3A):c.1935_1936del (p.Gly646fs)	Acute myeloid leukemia [RCV004795501]	pathogenic	2	25243898	25243899	Human	2	name
597885062	CV3854763	deletion	NM_022552.5(DNMT3A):c.1778_1793del (p.Gly593fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV005199608]	pathogenic	2	25244213	25244228	Human	1	name
598244311	CV3895559	deletion	NM_022552.5(DNMT3A):c.1036_1040del (p.Pro346fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV005365657]	uncertain significance	2	25247133	25247137	Human	1	name
12913520	CV421376	duplication	NM_022552.5(DNMT3A):c.1450_1451dup (p.Gln485fs)	not provided [RCV000493919]	likely pathogenic	2	25246042	25246043	Human		name
13813910	CV557984	deletion	NM_022552.5(DNMT3A):c.1060_1069del (p.Phe354fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV000690485]	pathogenic	2	25247104	25247113	Human	1	name
13805544	CV558336	deletion	NM_022552.5(DNMT3A):c.2540_2541del (p.His847fs)	Tatton-Brown-Rahman overgrowth syndrome [RCV000700133]	likely pathogenic	2	25235763	25235764	Human	1	name
21404862	CV801064	deletion	NM_022552.5(DNMT3A):c.1035_1045del (p.Met345fs)	Acute myeloid leukemia [RCV001003799]	likely pathogenic	2	25247128	25247138	Human	2	name
25317749	CV805302	deletion	NM_022552.5(DNMT3A):c.2162_2168del (p.Lys721fs)	not provided [RCV001008212]	pathogenic	2	25240645	25240651	Human		name
150332844	CV1168906	deletion	NM_022552.5(DNMT3A):c.1582_1584del (p.Tyr528del)	not provided [RCV001537045]	uncertain significance	2	25244623	25244625	Human		name
408381306	CV3501461	indel	NM_022552.5(DNMT3A):c.2048_2053delinsC (p.Tyr683fs)	not provided [RCV004727550]	pathogenic	2	25241591	25241596	Human		name
597964421	CV3792261	deletion	NM_022552.5(DNMT3A):c.2401del (p.Gly800_Met801insTer)	Tatton-Brown-Rahman overgrowth syndrome [RCV005139819]	pathogenic	2	25239137	25239137	Human	1	name
150539415	CV1308791	microsatellite	NM_022552.5(DNMT3A):c.2736_2737del (p.Ter913ArgextTer?)	not provided [RCV001766295]	uncertain significance	2	25234281	25234282	Human		name
329847955	CV2667574	duplication	NM_022552.5(DNMT3A):c.2716_2718dup (p.Lys906_Glu907insLys)	not provided [RCV003229141]	uncertain significance	2	25234299	25234300	Human		name
408377948	CV3224482	duplication	NM_022552.5(DNMT3A):c.1078_1095dup (p.Tyr365_Arg366insAsnLysGlnProMetTyr)	Tatton-Brown-Rahman overgrowth syndrome [RCV004723561]\|not provided [RCV004767514]	likely pathogenic\|uncertain significance	2	25247077	25247078	Human	1	name

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