"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "DNMT3A" - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 584232	NC_000002.12:g.(?_25234259)_(25345952_?)del	DNMT3A, LOC122756673 +13 more	Deletion	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 2918044	NM_022552.5(DNMT3A):c.2738A>G (p.Ter913=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2113930	NM_022552.5(DNMT3A):c.2730G>A (p.Ala910=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 751391	NM_022552.5(DNMT3A):c.2712G>A (p.Pro904=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 2764099	NM_022552.5(DNMT3A):c.2707G>C (p.Ala903Pro)	DNMT3A (A680P +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2754899	NM_022552.5(DNMT3A):c.2703C>G (p.Leu901=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 728368	NM_022552.5(DNMT3A):c.2697C>T (p.Arg899=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 2970725	NM_022552.5(DNMT3A):c.2695C>T (p.Arg899Cys)	DNMT3A (R710C +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 541937	NM_022552.5(DNMT3A):c.2688A>G (p.Pro896=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 2062469	NM_022552.5(DNMT3A):c.2682C>T (p.Ser894=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1486678	NM_022552.5(DNMT3A):c.2678G>A (p.Trp893Ter)	DNMT3A (W741* +3 more)	Single nucleotide variant (nonsense +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 499517	NM_022552.5(DNMT3A):c.2676A>G (p.Ser892=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1631039	NM_022552.5(DNMT3A):c.2659A>C (p.Arg887=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GLikely benign
Select item 771569	NM_022552.5(DNMT3A):c.2658G>A (p.Gln886=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +2 more	GLikely benign
Select item 434950	NM_022552.5(DNMT3A):c.2652G>A (p.Ala884=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 2085495	NM_022552.5(DNMT3A):c.2647T>C (p.Leu883=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 375881	NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His)	DNMT3A (R693H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GPathogenic/Likely pathogenic STier II - Potential OOncogenic
Select item 375884	NM_022552.5(DNMT3A):c.2644C>A (p.Arg882Ser)	DNMT3A (R693S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 375882	NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys)	DNMT3A (R693C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
Select item 2049581	NM_022552.5(DNMT3A):c.2643C>T (p.Ser881=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 742643	NM_022552.5(DNMT3A):c.2628C>T (p.Asp876=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2918055	NM_022552.5(DNMT3A):c.2622T>C (p.Tyr874=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2853491	NM_022552.5(DNMT3A):c.2609del (p.Phe870fs)	DNMT3A (F647fs +3 more)	Deletion (frameshift variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 1315733	NM_022552.5(DNMT3A):c.2601A>C (p.Val867=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 434951	NM_022552.5(DNMT3A):c.2598-3C>T	DNMT3A	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1618544	NM_022552.5(DNMT3A):c.2598-7C>T	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2036022	NM_022552.5(DNMT3A):c.2597+12G>T	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2183924	NM_022552.5(DNMT3A):c.2597+7G>A	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 1486412	NM_022552.5(DNMT3A):c.2597+3A>G	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 834203	NM_022552.5(DNMT3A):c.2546C>A (p.Pro849His)	DNMT3A (P626H +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 577390	NM_022552.5(DNMT3A):c.2540_2541del (p.His847fs)	DNMT3A (H658fs +3 more)	Deletion (frameshift variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely pathogenic
Select item 1667500	NM_022552.5(DNMT3A):c.2538G>A (p.Gln846=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 648721	NM_022552.5(DNMT3A):c.2495C>T (p.Thr832Ile)	DNMT3A (T643I +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely pathogenic
Select item 1972790	NM_022552.5(DNMT3A):c.2479-15C>T	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 1616380	NM_022552.5(DNMT3A):c.2478+13G>A	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2160139	NM_022552.5(DNMT3A):c.2478+12C>T	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2744155	NM_022552.5(DNMT3A):c.2474C>T (p.Ala825Val)	DNMT3A (A673V +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2766464	NM_022552.5(DNMT3A):c.2446C>G (p.Gln816Glu)	DNMT3A (Q627E +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2847103	NM_022552.5(DNMT3A):c.2438T>C (p.Leu813Pro)	DNMT3A (L590P +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2761608	NM_022552.5(DNMT3A):c.2416G>A (p.Ala806Thr)	DNMT3A (A583T +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2021920	NM_022552.5(DNMT3A):c.2412G>A (p.Pro804=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GLikely benign
Select item 1925500	NM_022552.5(DNMT3A):c.2412G>C (p.Pro804=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 1349362	NM_022552.5(DNMT3A):c.2409-1G>A	DNMT3A	Single nucleotide variant (splice acceptor variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely pathogenic
Select item 2085503	NM_022552.5(DNMT3A):c.2408+14C>T	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 656461	NM_022552.5(DNMT3A):c.2385G>A (p.Trp795Ter)	DNMT3A (W643* +3 more)	Single nucleotide variant (nonsense +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 2057081	NM_022552.5(DNMT3A):c.2373C>T (p.Ala791=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 740062	NM_022552.5(DNMT3A):c.2331T>C (p.Pro777=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1942161	NM_022552.5(DNMT3A):c.2323-16G>A	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2739864	NM_022552.5(DNMT3A):c.2323-17C>T	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2705033	NM_022552.5(DNMT3A):c.2323-19dup	DNMT3A	Duplication (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 419534	NM_022552.5(DNMT3A):c.2311C>T (p.Arg771Ter)	DNMT3A (R582* +3 more)	Single nucleotide variant (nonsense +1 more)	Acute myeloid leukemia +2 more	GPathogenic
Select item 2886898	NM_022552.5(DNMT3A):c.2310G>A (p.Ser770=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 644499	NM_022552.5(DNMT3A):c.2309C>T (p.Ser770Leu)	DNMT3A (S581L +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2170066	NM_022552.5(DNMT3A):c.2287G>A (p.Val763Ile)	DNMT3A (V763I +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2781711	NM_022552.5(DNMT3A):c.2259G>A (p.Trp753Ter)	DNMT3A (W753* +3 more)	Single nucleotide variant (nonsense +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 2422011	NM_022552.5(DNMT3A):c.2245C>A (p.Arg749Ser)	DNMT3A (R526S +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2203023	NM_022552.5(DNMT3A):c.2245C>T (p.Arg749Cys)	DNMT3A (R749C +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 797913	NM_022552.5(DNMT3A):c.2232G>A (p.Lys744=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2182521	NM_022552.5(DNMT3A):c.2211C>G (p.Leu737=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GLikely benign
Select item 1194481	NM_022552.5(DNMT3A):c.2207G>A (p.Arg736His)	DNMT3A (R513H +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GConflicting classifications of pathogenicity
Select item 981259	NM_022552.5(DNMT3A):c.2206C>T (p.Arg736Cys)	DNMT3A (R513C +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2730454	NM_022552.5(DNMT3A):c.2204A>C (p.Tyr735Ser)	DNMT3A (Y735S +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2910137	NM_022552.5(DNMT3A):c.2196dup (p.Glu733Ter)	DNMT3A (E544* +3 more)	Duplication (nonsense +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 2629187	NM_022552.5(DNMT3A):c.2190CTT[1] (p.Phe732del)	DNMT3A (F509del +3 more)	Microsatellite (inframe_deletion +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GUncertain significance
Select item 2146186	NM_022552.5(DNMT3A):c.2181T>C (p.Thr727=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2742002	NM_022552.5(DNMT3A):c.2174-10G>A	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 3013559	NM_022552.5(DNMT3A):c.2174-11C>T	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 475176	NM_022552.5(DNMT3A):c.2151C>T (p.Asn717=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 546858	NM_022552.5(DNMT3A):c.2141C>G (p.Ser714Cys)	DNMT3A (S525C +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2021295	NM_022552.5(DNMT3A):c.2115T>C (p.Ile705=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2898998	NM_022552.5(DNMT3A):c.2083-19G>C	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 1593553	NM_022552.5(DNMT3A):c.2083-19G>A	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 1574854	NM_022552.5(DNMT3A):c.2083-20C>T	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2170606	NM_022552.5(DNMT3A):c.2082+20C>T	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 1947553	NM_022552.5(DNMT3A):c.2067C>T (p.Ser689=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 650730	NM_022552.5(DNMT3A):c.2063G>A (p.Arg688His)	DNMT3A (R499H +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1213713	NM_022552.5(DNMT3A):c.2062C>T (p.Arg688Cys)	DNMT3A (R465C +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 1339120	NM_022552.5(DNMT3A):c.2059G>A (p.Val687Ile)	DNMT3A (V464I +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GUncertain significance
Select item 2144735	NM_022552.5(DNMT3A):c.2053G>A (p.Gly685Arg)	DNMT3A (G462R +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2723079	NM_022552.5(DNMT3A):c.2037G>C (p.Gly679=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 998917	NM_022552.5(DNMT3A):c.2026C>T (p.Arg676Trp)	DNMT3A (R453W +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 1933329	NM_022552.5(DNMT3A):c.2013G>A (p.Thr671=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 1719738	NM_022552.5(DNMT3A):c.2009T>C (p.Ile670Thr)	DNMT3A (I447T +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2185999	NM_022552.5(DNMT3A):c.1989G>A (p.Ser663=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2066554	NM_022552.5(DNMT3A):c.1956C>T (p.Asp652=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2971241	NM_022552.5(DNMT3A):c.1937-18_1937-17delinsTC	DNMT3A	Indel (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2860435	NM_022552.5(DNMT3A):c.1934C>T (p.Thr645Ile)	DNMT3A (T422I +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 1959311	NM_022552.5(DNMT3A):c.1910T>C (p.Leu637Pro)	DNMT3A (L414P +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 872724	NM_022552.5(DNMT3A):c.1904G>A (p.Arg635Gln)	DNMT3A (R412Q +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GConflicting classifications of pathogenicity
Select item 284904	NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp)	DNMT3A (R635W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity OOncogenic
Select item 2418295	NM_022552.5(DNMT3A):c.1899C>T (p.Pro633=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1463629	NM_022552.5(DNMT3A):c.1895A>G (p.Lys632Arg)	DNMT3A (K443R +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 3015102	NM_022552.5(DNMT3A):c.1860A>G (p.Pro620=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2901821	NM_022552.5(DNMT3A):c.1854C>T (p.Asp618=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2725395	NM_022552.5(DNMT3A):c.1852-5C>T	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 1984926	NM_022552.5(DNMT3A):c.1852-9A>G	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2075597	NM_022552.5(DNMT3A):c.1851+20C>T	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 3008183	NM_022552.5(DNMT3A):c.1851+19G>T	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2039513	NM_022552.5(DNMT3A):c.1827C>T (p.Phe609=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1998131	NM_022552.5(DNMT3A):c.1817A>G (p.Gln606Arg)	DNMT3A (Q454R +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance

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