ClinVar for MedGen (Select 862982) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25809381.	NM_022552.5(DNMT3A):c.2177G>T (p.Gly726Val) GRCh37: Chr2:25463316 GRCh38: Chr2:25240447	DNMT3A	G503V, G537V, G574V, G726V	Tatton-Brown-Rahman overgrowth syndrome	Pathogenic	criteria provided, single submitter
Select item 25751732.	NM_022552.5(DNMT3A):c.1279G>T (p.Glu427Ter) GRCh37: Chr2:25469489 GRCh38: Chr2:25246620	DNMT3A	E204, E238, E275, E427	Tatton-Brown-Rahman overgrowth syndrome	Pathogenic	no assertion criteria provided
Select item 25750763.	NM_022552.5(DNMT3A):c.1258A>T (p.Lys420Ter) GRCh37: Chr2:25469510 GRCh38: Chr2:25246641	DNMT3A	K197, K231, K268, K420	Tatton-Brown-Rahman overgrowth syndrome	Pathogenic	no assertion criteria provided
Select item 25017004.	NM_022552.5(DNMT3A):c.1481G>C (p.Cys494Ser) GRCh37: Chr2:25468195 GRCh38: Chr2:25245326	DNMT3A	C271S, C305S, C342S, C494S	Tatton-Brown-Rahman overgrowth syndrome	Pathogenic	criteria provided, single submitter
Select item 25016995.	NM_022552.5(DNMT3A):c.2597+1G>A GRCh37: Chr2:25458575 GRCh38: Chr2:25235706	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Pathogenic	no assertion criteria provided
Select item 25008836.	NM_022552.5(DNMT3A):c.1353_1356dup (p.Pro453fs) GRCh37: Chr2:25469101-25469102 GRCh38: Chr2:25246232-25246233	DNMT3A	P230fs, P264fs, P301fs, P453fs	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (May 2, 2023)	criteria provided, single submitter
Select item 24444287.	NM_022552.5(DNMT3A):c.2479-1G>A GRCh37: Chr2:25458695 GRCh38: Chr2:25235826	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24314858.	NM_022552.5(DNMT3A):c.1627G>A (p.Gly543Ser) GRCh37: Chr2:25467449 GRCh38: Chr2:25244580	DNMT3A	G320S, G354S, G391S, G543S	Tatton-Brown-Rahman overgrowth syndrome	Likely pathogenic (Dec 22, 2022)	criteria provided, single submitter
Select item 24275419.	NC_000002.11:g.(?_24443763)_(29022169_?)dup GRCh37: Chr2:24443763-29022169	HADHA, SLC4A1AP, ITSN2, KCNK3, KHK, KIF3C, KRTCAP3, MAPRE3, IFT172, SLC5A6, TCF23, TMEM214, TRIM54, UCN, ZNF512, SNX17, ADCY3, ADGRF3, AGBL5, CENPA, CENPO, ABHD1, SUPT7L, HADHB, ASXL2, ATRAID, BABAM2, C2orf16, CAD, CCDC121, CGREF1, CIB4, CIMIP2C, DNAJC27, DNAJC5G, DNMT3A, DPYSL5, DRC1, DTNB, EFR3B, EIF2B4, EMILIN1, FNDC4, FOSL2, GAREM2, GCKR, GPN1, GTF3C2, MPV17, MRPL33, NCOA1, NRBP1, OST4, OTOF, PLB1, POMC, PPM1G, PPP1CB, PREB, PRR30, PTRHD1, RAB10, RBKS, SELENOI, SLC30A3, SLC35F6, ZNF513		not provided, Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 242754010.	NC_000002.11:g.(?_24443763)_(26029226_?)del GRCh37: Chr2:24443763-26029226	PTRHD1, ADCY3, ASXL2, CENPO, DNAJC27, DNMT3A, DTNB, EFR3B, ITSN2, NCOA1, POMC		Tatton-Brown-Rahman overgrowth syndrome	Pathogenic (Aug 31, 2022)	criteria provided, single submitter
Select item 242753911.	NC_000002.11:g.(?_25497790)_(25498432_?)del GRCh37: Chr2:25497790-25498432	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Pathogenic (Dec 26, 2021)	criteria provided, single submitter
Select item 242353712.	NC_000002.11:g.(?_25383950)_(25523132_?)del GRCh37: Chr2:25383950-25523132	DNMT3A, POMC		Tatton-Brown-Rahman overgrowth syndrome, not provided	Conflicting interpretations of pathogenicity (Feb 1, 2022)	criteria provided, conflicting interpretations
Select item 242201113.	NM_022552.5(DNMT3A):c.2245C>A (p.Arg749Ser) GRCh37: Chr2:25463248 GRCh38: Chr2:25240379	DNMT3A	R526S, R560S, R597S, R749S	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 241870914.	NM_022552.5(DNMT3A):c.793G>A (p.Val265Met) GRCh37: Chr2:25470968 GRCh38: Chr2:25248099	DNMT3A	V113M, V265M, V42M, V76M	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 241829515.	NM_022552.5(DNMT3A):c.1899C>T (p.Pro633=) GRCh37: Chr2:25466804 GRCh38: Chr2:25243935	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 241632216.	NM_022552.5(DNMT3A):c.237C>A (p.Ala79=) GRCh37: Chr2:25505521 GRCh38: Chr2:25282652	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Oct 15, 2022)	criteria provided, single submitter
Select item 220302317.	NM_022552.5(DNMT3A):c.2245C>T (p.Arg749Cys) GRCh37: Chr2:25463248 GRCh38: Chr2:25240379	DNMT3A	R749C, R597C, R526C, R560C	Tatton-Brown-Rahman overgrowth syndrome	Pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 220249018.	NM_022552.5(DNMT3A):c.1593C>T (p.Asp531=) GRCh37: Chr2:25467483 GRCh38: Chr2:25244614	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 220154319.	NM_022552.5(DNMT3A):c.55C>T (p.Arg19Trp) GRCh37: Chr2:25536799 GRCh38: Chr2:25313930	DNMT3A	R19W	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 219956720.	NM_022552.5(DNMT3A):c.1242C>T (p.Phe414=) GRCh37: Chr2:25469526 GRCh38: Chr2:25246657	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Nov 27, 2019)	criteria provided, single submitter
Select item 219943721.	NM_022552.5(DNMT3A):c.1446G>T (p.Glu482Asp) GRCh37: Chr2:25468917 GRCh38: Chr2:25246048	DNMT3A	E293D, E330D, E259D, E482D	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (Mar 7, 2022)	criteria provided, single submitter
Select item 219884822.	NM_022552.5(DNMT3A):c.7G>A (p.Ala3Thr) GRCh37: Chr2:25536847 GRCh38: Chr2:25313978	DNMT3A	A3T	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 219724223.	NM_022552.5(DNMT3A):c.337G>A (p.Gly113Arg) GRCh37: Chr2:25505421 GRCh38: Chr2:25282552	DNMT3A	G113R	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (Sep 25, 2022)	criteria provided, single submitter
Select item 219490124.	NM_022552.5(DNMT3A):c.250G>A (p.Ala84Thr) GRCh37: Chr2:25505508 GRCh38: Chr2:25282639	DNMT3A	A84T	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (Sep 25, 2022)	criteria provided, single submitter
Select item 219376325.	NM_022552.5(DNMT3A):c.1148T>C (p.Leu383Pro) GRCh37: Chr2:25469620 GRCh38: Chr2:25246751	DNMT3A	L194P, L231P, L160P, L383P	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (Jan 14, 2022)	criteria provided, single submitter
Select item 219371626.	NM_022552.5(DNMT3A):c.1123-10C>T GRCh37: Chr2:25469655 GRCh38: Chr2:25246786	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 219230227.	NM_022552.5(DNMT3A):c.1528G>A (p.Val510Ile) GRCh37: Chr2:25468148 GRCh38: Chr2:25245279	DNMT3A	V358I, V287I, V321I, V510I	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 218971728.	NM_022552.5(DNMT3A):c.1015-3del GRCh37: Chr2:25470030 GRCh38: Chr2:25247161	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Benign (Oct 13, 2022)	criteria provided, single submitter
Select item 218759029.	NM_022552.5(DNMT3A):c.696G>A (p.Gly232=) GRCh37: Chr2:25471065 GRCh38: Chr2:25248196	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 218599930.	NM_022552.5(DNMT3A):c.1989G>A (p.Ser663=) GRCh37: Chr2:25464524 GRCh38: Chr2:25241655	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 218392431.	NM_022552.5(DNMT3A):c.2597+7G>A GRCh37: Chr2:25458569 GRCh38: Chr2:25235700	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 218252132.	NM_022552.5(DNMT3A):c.2211C>G (p.Leu737=) GRCh37: Chr2:25463282 GRCh38: Chr2:25240413	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 218149733.	NM_022552.5(DNMT3A):c.751A>C (p.Thr251Pro) GRCh37: Chr2:25471010 GRCh38: Chr2:25248141	DNMT3A	T251P, T28P, T62P, T99P	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 218115834.	NM_022552.5(DNMT3A):c.1110C>T (p.Tyr370=) GRCh37: Chr2:25469932 GRCh38: Chr2:25247063	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 218061135.	NM_022552.5(DNMT3A):c.1059G>A (p.Ala353=) GRCh37: Chr2:25469983 GRCh38: Chr2:25247114	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 218037036.	NM_022552.5(DNMT3A):c.1475-4C>G GRCh37: Chr2:25468205 GRCh38: Chr2:25245336	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Oct 15, 2022)	criteria provided, single submitter
Select item 217972937.	NM_022552.5(DNMT3A):c.1611C>T (p.Cys537=) GRCh37: Chr2:25467465 GRCh38: Chr2:25244596	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 217448938.	NM_022552.5(DNMT3A):c.50C>T (p.Ala17Val) GRCh37: Chr2:25536804 GRCh38: Chr2:25313935	DNMT3A	A17V	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 217060639.	NM_022552.5(DNMT3A):c.2082+20C>T GRCh37: Chr2:25464411 GRCh38: Chr2:25241542	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 217006640.	NM_022552.5(DNMT3A):c.2287G>A (p.Val763Ile) GRCh37: Chr2:25463206 GRCh38: Chr2:25240337	DNMT3A	V763I, V574I, V611I, V540I	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 216852241.	NM_022552.5(DNMT3A):c.1776C>T (p.Tyr592=) GRCh37: Chr2:25467099 GRCh38: Chr2:25244230	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 216634442.	NM_022552.5(DNMT3A):c.128C>T (p.Thr43Ile) GRCh37: Chr2:25523057 GRCh38: Chr2:25300188	DNMT3A	T43I	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (Mar 21, 2022)	criteria provided, single submitter
Select item 216336543.	NM_022552.5(DNMT3A):c.1122+9C>A GRCh37: Chr2:25469911 GRCh38: Chr2:25247042	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 216149444.	NM_022552.5(DNMT3A):c.1790G>A (p.Arg597Gln) GRCh37: Chr2:25467085 GRCh38: Chr2:25244216	DNMT3A	R408Q, R374Q, R597Q, R445Q	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (Jan 2, 2022)	criteria provided, single submitter
Select item 216013945.	NM_022552.5(DNMT3A):c.2478+12C>T GRCh37: Chr2:25459793 GRCh38: Chr2:25236924	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Jan 14, 2022)	criteria provided, single submitter
Select item 215717546.	NM_022552.5(DNMT3A):c.1310C>T (p.Thr437Met) GRCh37: Chr2:25469148 GRCh38: Chr2:25246279	DNMT3A	T437M, T248M, T214M, T285M	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (Sep 21, 2022)	criteria provided, single submitter
Select item 215589547.	NM_022552.5(DNMT3A):c.209C>T (p.Ala70Val) GRCh37: Chr2:25505549 GRCh38: Chr2:25282680	DNMT3A	A70V	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 215493848.	NM_022552.5(DNMT3A):c.1014+19C>T GRCh37: Chr2:25470441 GRCh38: Chr2:25247572	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 215487149.	NM_022552.5(DNMT3A):c.1587C>T (p.Asp529=) GRCh37: Chr2:25467489 GRCh38: Chr2:25244620	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 215339950.	NM_022552.5(DNMT3A):c.309G>A (p.Glu103=) GRCh37: Chr2:25505449 GRCh38: Chr2:25282580	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 215145451.	NM_022552.5(DNMT3A):c.1429+17T>C GRCh37: Chr2:25469012 GRCh38: Chr2:25246143	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 214618652.	NM_022552.5(DNMT3A):c.2181T>C (p.Thr727=) GRCh37: Chr2:25463312 GRCh38: Chr2:25240443	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Aug 17, 2022)	criteria provided, single submitter
Select item 214473553.	NM_022552.5(DNMT3A):c.2053G>A (p.Gly685Arg) GRCh37: Chr2:25464460 GRCh38: Chr2:25241591	DNMT3A	G462R, G533R, G685R, G496R	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 213886954.	NM_022552.5(DNMT3A):c.1305G>A (p.Val435=) GRCh37: Chr2:25469153 GRCh38: Chr2:25246284	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Feb 7, 2022)	criteria provided, single submitter
Select item 211791155.	NM_022552.5(DNMT3A):c.1116C>T (p.Val372=) GRCh37: Chr2:25469926 GRCh38: Chr2:25247057	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 211410556.	NM_022552.5(DNMT3A):c.267C>T (p.Pro89=) GRCh37: Chr2:25505491 GRCh38: Chr2:25282622	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 211393057.	NM_022552.5(DNMT3A):c.2730G>A (p.Ala910=) GRCh37: Chr2:25457157 GRCh38: Chr2:25234288	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 211233758.	NM_022552.5(DNMT3A):c.232A>G (p.Met78Val) GRCh37: Chr2:25505526 GRCh38: Chr2:25282657	DNMT3A	M78V	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 210789459.	NM_022552.5(DNMT3A):c.838G>T (p.Asp280Tyr) GRCh37: Chr2:25470923 GRCh38: Chr2:25248054	DNMT3A	D91Y, D57Y, D280Y, D128Y	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 210693160.	NM_022552.5(DNMT3A):c.1102G>A (p.Ala368Thr) GRCh37: Chr2:25469940 GRCh38: Chr2:25247071	DNMT3A	A368T, A145T, A179T, A216T	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (Jun 11, 2022)	criteria provided, single submitter
Select item 210448061.	NM_022552.5(DNMT3A):c.853G>T (p.Glu285Ter) GRCh37: Chr2:25470908 GRCh38: Chr2:25248039	DNMT3A	E133, E285, E96, E62	Tatton-Brown-Rahman overgrowth syndrome	Pathogenic (Feb 28, 2022)	criteria provided, single submitter
Select item 210209762.	NM_022552.5(DNMT3A):c.840C>T (p.Asp280=) GRCh37: Chr2:25470921 GRCh38: Chr2:25248052	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 208828963.	NM_022552.5(DNMT3A):c.72+10G>C GRCh37: Chr2:25536772 GRCh38: Chr2:25313903	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 208550364.	NM_022552.5(DNMT3A):c.2408+14C>T GRCh37: Chr2:25461985 GRCh38: Chr2:25239116	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 208549565.	NM_022552.5(DNMT3A):c.2647T>C (p.Leu883=) GRCh37: Chr2:25457240 GRCh38: Chr2:25234371	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 207830566.	NM_022552.5(DNMT3A):c.1545A>G (p.Gln515=) GRCh37: Chr2:25468131 GRCh38: Chr2:25245262	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 207635967.	NM_022552.5(DNMT3A):c.1114G>A (p.Val372Ile) GRCh37: Chr2:25469928 GRCh38: Chr2:25247059	DNMT3A	V183I, V372I, V149I, V220I	Tatton-Brown-Rahman overgrowth syndrome, Inborn genetic diseases	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 207559768.	NM_022552.5(DNMT3A):c.1851+20C>T GRCh37: Chr2:25467004 GRCh38: Chr2:25244135	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Oct 22, 2022)	criteria provided, single submitter
Select item 207336269.	NM_022552.5(DNMT3A):c.1342_1343dup (p.Ala449fs) GRCh37: Chr2:25469114-25469115 GRCh38: Chr2:25246245-25246246	DNMT3A	A260fs, A449fs, A226fs, A297fs	Tatton-Brown-Rahman overgrowth syndrome	Pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 207331270.	NM_022552.5(DNMT3A):c.1123-4C>T GRCh37: Chr2:25469649 GRCh38: Chr2:25246780	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 207164571.	NM_022552.5(DNMT3A):c.75C>T (p.Asp25=) GRCh37: Chr2:25523110 GRCh38: Chr2:25300241	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 206655472.	NM_022552.5(DNMT3A):c.1956C>T (p.Asp652=) GRCh37: Chr2:25464557 GRCh38: Chr2:25241688	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 206581773.	NM_022552.5(DNMT3A):c.1127C>A (p.Ala376Asp) GRCh37: Chr2:25469641 GRCh38: Chr2:25246772	DNMT3A	A224D, A376D, A153D, A187D	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (Dec 29, 2021)	criteria provided, single submitter
Select item 206247374.	NM_022552.5(DNMT3A):c.113G>T (p.Arg38Leu) GRCh37: Chr2:25523072 GRCh38: Chr2:25300203	DNMT3A	R38L	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 206246975.	NM_022552.5(DNMT3A):c.2682C>T (p.Ser894=) GRCh37: Chr2:25457205 GRCh38: Chr2:25234336	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 206137476.	NM_022552.5(DNMT3A):c.428G>A (p.Arg143Gln) GRCh37: Chr2:25505330 GRCh38: Chr2:25282461	DNMT3A	R143Q	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 206015177.	NM_022552.5(DNMT3A):c.480C>T (p.Ser160=) GRCh37: Chr2:25498381 GRCh38: Chr2:25275512	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 205708178.	NM_022552.5(DNMT3A):c.2373C>T (p.Ala791=) GRCh37: Chr2:25462034 GRCh38: Chr2:25239165	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 205499779.	NM_022552.5(DNMT3A):c.1279+13A>C GRCh37: Chr2:25469476 GRCh38: Chr2:25246607	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Oct 6, 2022)	criteria provided, single submitter
Select item 205252680.	NM_022552.5(DNMT3A):c.1055G>A (p.Ser352Asn) GRCh37: Chr2:25469987 GRCh38: Chr2:25247118	DNMT3A	S163N, S200N, S352N, S129N	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 204958181.	NM_022552.5(DNMT3A):c.2643C>T (p.Ser881=) GRCh37: Chr2:25457244 GRCh38: Chr2:25234375	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 204351282.	NM_022552.5(DNMT3A):c.1668-12G>A GRCh37: Chr2:25467219 GRCh38: Chr2:25244350	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Dec 16, 2021)	criteria provided, single submitter
Select item 204242183.	NM_022552.5(DNMT3A):c.1047G>A (p.Ser349=) GRCh37: Chr2:25469995 GRCh38: Chr2:25247126	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 204211284.	NM_022552.5(DNMT3A):c.1123-14G>A GRCh37: Chr2:25469659 GRCh38: Chr2:25246790	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 204080685.	NM_022552.5(DNMT3A):c.269A>G (p.Asn90Ser) GRCh37: Chr2:25505489 GRCh38: Chr2:25282620	DNMT3A	N90S	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (Sep 4, 2022)	criteria provided, single submitter
Select item 203995086.	NM_022552.5(DNMT3A):c.855+7G>A GRCh37: Chr2:25470899 GRCh38: Chr2:25248030	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 203951387.	NM_022552.5(DNMT3A):c.1827C>T (p.Phe609=) GRCh37: Chr2:25467048 GRCh38: Chr2:25244179	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 203602288.	NM_022552.5(DNMT3A):c.2597+12G>T GRCh37: Chr2:25458564 GRCh38: Chr2:25235695	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 203322989.	NM_022552.5(DNMT3A):c.1555-8C>T GRCh37: Chr2:25467529 GRCh38: Chr2:25244660	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 203238890.	NM_022552.5(DNMT3A):c.1004_1011del (p.Lys335fs) GRCh37: Chr2:25470463-25470470 GRCh38: Chr2:25247594-25247601	DNMT3A	K335fs, K146fs, K112fs, K183fs	Tatton-Brown-Rahman overgrowth syndrome	Pathogenic (Sep 24, 2022)	criteria provided, single submitter
Select item 203102391.	NM_022552.5(DNMT3A):c.629G>A (p.Trp210Ter) GRCh37: Chr2:25497820 GRCh38: Chr2:25274951	DNMT3A	W210*	Tatton-Brown-Rahman overgrowth syndrome	Pathogenic (Sep 17, 2022)	criteria provided, single submitter
Select item 202782892.	NM_022552.5(DNMT3A):c.669A>T (p.Gly223=) GRCh37: Chr2:25471092 GRCh38: Chr2:25248223	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 202247693.	NM_022552.5(DNMT3A):c.640-17G>C GRCh37: Chr2:25471138 GRCh38: Chr2:25248269	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 202192094.	NM_022552.5(DNMT3A):c.2412G>A (p.Pro804=) GRCh37: Chr2:25459871 GRCh38: Chr2:25237002	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 202129595.	NM_022552.5(DNMT3A):c.2115T>C (p.Ile705=) GRCh37: Chr2:25463567 GRCh38: Chr2:25240698	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 201328696.	NM_022552.5(DNMT3A):c.1143G>A (p.Gly381=) GRCh37: Chr2:25469625 GRCh38: Chr2:25246756	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Nov 28, 2021)	criteria provided, single submitter
Select item 199861297.	NM_022552.5(DNMT3A):c.1270C>T (p.Pro424Ser) GRCh37: Chr2:25469498 GRCh38: Chr2:25246629	DNMT3A	P201S, P235S, P424S, P272S	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 199813198.	NM_022552.5(DNMT3A):c.1817A>G (p.Gln606Arg) GRCh37: Chr2:25467058 GRCh38: Chr2:25244189	DNMT3A	Q454R, Q606R, Q383R, Q417R	Tatton-Brown-Rahman overgrowth syndrome	Uncertain significance (May 23, 2022)	criteria provided, single submitter
Select item 198590599.	NM_022552.5(DNMT3A):c.1231C>T (p.Leu411=) GRCh37: Chr2:25469537 GRCh38: Chr2:25246668	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 1984926100.	NM_022552.5(DNMT3A):c.1852-9A>G GRCh37: Chr2:25466860 GRCh38: Chr2:25243991	DNMT3A		Tatton-Brown-Rahman overgrowth syndrome	Likely benign (Aug 25, 2022)	criteria provided, single submitter

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