DNMT3A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	ACP1, ADAM17 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	ABHD1, ADCY3 +321 more	Copy number loss	See cases	GPathogenic
Select item 147963	GRCh38/hg38 2p23.3(chr2:25064306-27154398)x1	LOC129933291, LOC129933292 +142 more	Copy number loss	See cases	GUncertain significance
Select item 154924	GRCh38/hg38 2p23.3(chr2:25113266-25618499)x3	DNMT3A, DTNB +56 more	Copy number gain	See cases	GUncertain significance
Select item 145950	GRCh38/hg38 2p23.3(chr2:25215598-25306343)x3	DNMT3A, LOC122756673 +10 more	Copy number gain	See cases	GLikely benign
Select item 584232	NC_000002.12:g.(?_25234259)_(25345952_?)del	LOC129933293, LOC129933294 +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 1316389	NM_022552.5(DNMT3A):c.2736_2737del (p.Ter913ArgextTer?)	DNMT3A	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
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 1706365	NM_022552.5(DNMT3A):c.2729C>T (p.Ala910Val)	DNMT3A (A687V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 992315	NM_022552.5(DNMT3A):c.2726T>C (p.Phe909Ser)	DNMT3A (F686S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 981260	NM_022552.5(DNMT3A):c.2722T>A (p.Tyr908Asn)	DNMT3A (Y685N +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely pathogenic
Select item 2502468	NM_022552.5(DNMT3A):c.2716_2718dup (p.Lys906_Glu907insLys)	DNMT3A	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 751391	NM_022552.5(DNMT3A):c.2712G>A (p.Pro904=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	DNMT3A-related condition +2 more	GLikely benign
Select item 372798	NM_022552.5(DNMT3A):c.2711C>T (p.Pro904Leu)	DNMT3A (P715L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 635110	NM_022552.5(DNMT3A):c.2710C>T (p.Pro904Ser)	DNMT3A (P715S +3 more)	Single nucleotide variant (missense variant +1 more)	Glioblastoma	GLikely pathogenic
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 139619	NM_022552.5(DNMT3A):c.2705T>C (p.Phe902Ser)	DNMT3A (F902S +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
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)	Tatton-Brown-Rahman overgrowth syndrome +1 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 1321927	NM_022552.5(DNMT3A):c.2693T>C (p.Ile898Thr)	DNMT3A (I675T +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 541937	NM_022552.5(DNMT3A):c.2688A>G (p.Pro896=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +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)	Tatton-Brown-Rahman overgrowth syndrome +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)	DNMT3A-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2503108	NM_022552.5(DNMT3A):c.2666T>G (p.Leu889Arg)	DNMT3A (L666R +3 more)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GUncertain significance
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	GLikely benign
Select item 771569	NM_022552.5(DNMT3A):c.2658G>A (p.Gln886=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	DNMT3A-related condition +2 more	GLikely benign
Select item 817711	NM_022552.5(DNMT3A):c.2657del (p.Gln886fs)	DNMT3A (Q886fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 434950	NM_022552.5(DNMT3A):c.2652G>A (p.Ala884=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	DNMT3A-related condition +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)	Abnormality of the nervous system +6 more	GConflicting classifications of pathogenicity STier II - Potential
Select item 375880	NM_022552.5(DNMT3A):c.2645G>C (p.Arg882Pro)	DNMT3A (R693P +3 more)	Single nucleotide variant (missense variant +1 more)	Myelodysplastic syndrome +2 more	GPathogenic/Likely pathogenic
Select item 375879	NM_022552.5(DNMT3A):c.2645G>T (p.Arg882Leu)	DNMT3A (R693L +3 more)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GPathogenic
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 375883	NM_022552.5(DNMT3A):c.2644C>G (p.Arg882Gly)	DNMT3A (R693G +3 more)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 375882	NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys)	DNMT3A (R693C +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +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 2498805	NM_022552.5(DNMT3A):c.2629G>A (p.Val877Ile)	DNMT3A (V654I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 742643	NM_022552.5(DNMT3A):c.2628C>T (p.Asp876=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	DNMT3A-related condition +1 more	GLikely benign
Select item 2631447	NM_022552.5(DNMT3A):c.2626G>A (p.Asp876Asn)	DNMT3A (D653N +3 more)	Single nucleotide variant (missense variant +1 more)	DNMT3A-related condition	GUncertain significance
Select item 3031643	NM_022552.5(DNMT3A):c.2625T>C (p.Thr875=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	DNMT3A-related condition	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 1315678	NM_022552.5(DNMT3A):c.2622T>A (p.Tyr874Ter)	DNMT3A (Y651* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
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)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GLikely benign
Select item 3065661	NM_022552.5(DNMT3A):c.2598-1G>C	DNMT3A	Single nucleotide variant (splice acceptor variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely pathogenic
Select item 434951	NM_022552.5(DNMT3A):c.2598-3C>T	DNMT3A	Single nucleotide variant (intron variant)	DNMT3A-related condition +2 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 1193449	NM_022552.5(DNMT3A):c.2598-62G>A	DNMT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296213	NM_022552.5(DNMT3A):c.2597+197C>T	DNMT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193175	NM_022552.5(DNMT3A):c.2597+78T>C	DNMT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220822	NM_022552.5(DNMT3A):c.2597+30G>A	DNMT3A	Single nucleotide variant (intron variant)	not provided	GBenign
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 +1 more	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 2501699	NM_022552.5(DNMT3A):c.2597+1G>A	DNMT3A	Single nucleotide variant (splice donor variant)	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 2606701	NM_022552.5(DNMT3A):c.2580G>A (p.Trp860Ter)	DNMT3A (W637* +3 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
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 521889	NM_022552.5(DNMT3A):c.2536C>T (p.Gln846Ter)	DNMT3A (Q657* +3 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 620042	NM_022552.5(DNMT3A):c.2525A>G (p.Gln842Arg)	DNMT3A (Q653R +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GLikely pathogenic
Select item 2630862	NM_022552.5(DNMT3A):c.2516C>T (p.Ser839Phe)	DNMT3A (S616F +3 more)	Single nucleotide variant (missense variant +1 more)	DNMT3A-related condition	GUncertain significance
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 2444428	NM_022552.5(DNMT3A):c.2479-1G>A	DNMT3A	Single nucleotide variant (splice acceptor variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely pathogenic
Select item 3055969	NM_022552.5(DNMT3A):c.2479-6A>G	DNMT3A	Single nucleotide variant (intron variant)	DNMT3A-related condition	GLikely benign
Select item 3031588	NM_022552.5(DNMT3A):c.2479-7C>A	DNMT3A	Single nucleotide variant (intron variant)	DNMT3A-related condition	GLikely benign
Select item 3036347	NM_022552.5(DNMT3A):c.2479-10C>T	DNMT3A	Single nucleotide variant (intron variant)	DNMT3A-related condition	GLikely benign
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 1279444	NM_022552.5(DNMT3A):c.2479-159T>C	DNMT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188272	NM_022552.5(DNMT3A):c.2479-258dup	DNMT3A	Duplication (intron variant)	not provided	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 1676676	NM_022552.5(DNMT3A):c.2478+2T>G	DNMT3A	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 1210909	NM_022552.5(DNMT3A):c.2478+1G>A	DNMT3A	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 452755	NM_022552.5(DNMT3A):c.2478+1G>T	DNMT3A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2744155	NM_022552.5(DNMT3A):c.2474C>T (p.Ala825Val)	DNMT3A (A673V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 817820	NM_022552.5(DNMT3A):c.2469dup (p.Ile824fs)	DNMT3A (I824fs +3 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
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)	DNMT3A-related condition +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 1699486	NM_022552.5(DNMT3A):c.2411C>A (p.Pro804Gln)	DNMT3A (P581Q +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
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 1216623	NM_022552.5(DNMT3A):c.2409-127G>C	DNMT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205374	NM_022552.5(DNMT3A):c.2409-172C>T	DNMT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194409	NM_022552.5(DNMT3A):c.2409-253C>T	DNMT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219750	NM_022552.5(DNMT3A):c.2409-290T>C	DNMT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180936	NM_022552.5(DNMT3A):c.2408+223T>C	DNMT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1712653	NM_022552.5(DNMT3A):c.2403G>A (p.Met801Ile)	DNMT3A (M578I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1315822	NM_022552.5(DNMT3A):c.2398G>A (p.Gly800Ser)	DNMT3A (G577S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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