ClinVar for MedGen (Select 862982) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370337	NM_022552.5(DNMT3A):c.2387del (p.Gly796fs)	DNMT3A (G573fs +3 more)	Deletion (frameshift variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 3366981	NM_022552.5(DNMT3A):c.2593_2594del (p.Glu865fs)	DNMT3A (E642fs +3 more)	Deletion (frameshift variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 3362436	NM_022552.5(DNMT3A):c.323G>C (p.Gly108Ala)	DNMT3A (G108A)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 3338299	NM_022552.5(DNMT3A):c.1759G>A (p.Gly587Arg)	DNMT3A (G364R +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 3256560	NM_022552.5(DNMT3A):c.2409-2A>T	DNMT3A	Single nucleotide variant (splice acceptor variant)	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 3254982	NM_022552.5(DNMT3A):c.1669T>C (p.Cys557Arg)	DNMT3A (C334R +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely pathogenic
Select item 3254981	NM_022552.5(DNMT3A):c.1367del (p.Lys456fs)	DNMT3A (K233fs +3 more)	Deletion (frameshift variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 3247408	NC_000002.11:g.(?_24443763)_(26068452_?)dup	NCOA1, POMC +9 more	Duplication	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 3247407	NC_000002.11:g.(?_25522988)_(25536853_?)del	DNMT3A	Deletion	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 3247406	NC_000002.11:g.(?_24443763)_(25536853_?)del	ADCY3, CENPO +7 more	Deletion	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 3235953	NM_022552.5(DNMT3A):c.2153del (p.Pro718fs)	DNMT3A (P495fs +3 more)	Deletion (frameshift variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely pathogenic
Select item 3220864	NM_022552.5(DNMT3A):c.2105A>G (p.Asp702Gly)	DNMT3A (D513G +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely pathogenic
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 3064277	NM_022552.5(DNMT3A):c.1078_1095dup (p.Tyr365_Arg366insAsnLysGlnProMetTyr)	DNMT3A	Duplication (inframe_insertion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3064276	NM_022552.5(DNMT3A):c.1430-1G>C	DNMT3A	Single nucleotide variant (splice acceptor variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely pathogenic
Select item 3064275	NM_022552.5(DNMT3A):c.1267G>T (p.Glu423Ter)	DNMT3A (E200* +3 more)	Single nucleotide variant (nonsense +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely pathogenic
Select item 3064274	NM_022552.5(DNMT3A):c.1925G>T (p.Gly642Val)	DNMT3A (G419V +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely pathogenic
Select item 3064273	NM_022552.5(DNMT3A):c.1684T>G (p.Cys562Gly)	DNMT3A (C339G +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 3064272	NM_022552.5(DNMT3A):c.1925del (p.Gly642fs)	DNMT3A (G419fs +3 more)	Deletion (frameshift variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely pathogenic
Select item 3062230	NM_022552.5(DNMT3A):c.1627G>C (p.Gly543Arg)	DNMT3A (G320R +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 3021198	NM_022552.5(DNMT3A):c.1000G>A (p.Gly334Ser)	DNMT3A (G111S +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 3016904	NM_022552.5(DNMT3A):c.162G>A (p.Lys54=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 3015414	NM_022552.5(DNMT3A):c.445G>A (p.Ala149Thr)	DNMT3A (A149T)	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)	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 3012974	NM_022552.5(DNMT3A):c.1596C>A (p.Gly532=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 3008371	NM_022552.5(DNMT3A):c.1311G>A (p.Thr437=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	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 3005847	NM_022552.5(DNMT3A):c.1317G>A (p.Met439Ile)	DNMT3A (M287I +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 3001082	NM_022552.5(DNMT3A):c.177+10A>G	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2989958	NM_022552.5(DNMT3A):c.324G>A (p.Gly108=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2981249	NM_022552.5(DNMT3A):c.1554+1G>A	DNMT3A	Single nucleotide variant (splice donor variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely pathogenic
Select item 2977841	NM_022552.5(DNMT3A):c.468C>T (p.Thr156=)	DNMT3A, LOC129933290	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2976842	NM_022552.5(DNMT3A):c.228A>G (p.Pro76=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2975894	NM_022552.5(DNMT3A):c.806C>G (p.Ala269Gly)	DNMT3A (A117G +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
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 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 2955099	NM_022552.5(DNMT3A):c.1137C>T (p.Arg379=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2918892	NM_022552.5(DNMT3A):c.13C>T (p.Pro5Ser)	DNMT3A (P5S)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
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 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 2914177	NM_022552.5(DNMT3A):c.1766A>G (p.Lys589Arg)	DNMT3A (K366R +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2913470	NM_022552.5(DNMT3A):c.834C>T (p.Gly278=)	DNMT3A	Single nucleotide variant (synonymous 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 2907850	NM_022552.5(DNMT3A):c.186C>T (p.Ser62=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2907310	NM_022552.5(DNMT3A):c.1523T>C (p.Leu508Pro)	DNMT3A (L285P +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely pathogenic
Select item 2905854	NM_022552.5(DNMT3A):c.1632T>G (p.Arg544=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2904792	NM_022552.5(DNMT3A):c.367G>C (p.Glu123Gln)	DNMT3A (E123Q)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
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 2901738	NM_022552.5(DNMT3A):c.1475-19C>T	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2899233	NM_022552.5(DNMT3A):c.1584C>T (p.Tyr528=)	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 2897696	NM_022552.5(DNMT3A):c.97C>T (p.Arg33Cys)	DNMT3A (R33C)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2892293	NM_022552.5(DNMT3A):c.1122+15T>A	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2889934	NM_022552.5(DNMT3A):c.1154C>T (p.Pro385Leu)	DNMT3A (P385L +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2889294	NM_022552.5(DNMT3A):c.475G>A (p.Glu159Lys)	DNMT3A, LOC129933290 (E159K)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2889247	NM_022552.5(DNMT3A):c.493-15G>A	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2886898	NM_022552.5(DNMT3A):c.2310G>A (p.Ser770=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2885217	NM_022552.5(DNMT3A):c.1383A>G (p.Thr461=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2883255	NM_022552.5(DNMT3A):c.855+6C>T	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2882947	NM_022552.5(DNMT3A):c.582C>T (p.Asp194=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2877699	NM_022552.5(DNMT3A):c.1123-12G>A	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2875009	NM_022552.5(DNMT3A):c.838G>A (p.Asp280Asn)	DNMT3A (D91N +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2874855	NM_022552.5(DNMT3A):c.1123-9A>G	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2873940	NM_022552.5(DNMT3A):c.699C>T (p.Pro233=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2873242	NM_022552.5(DNMT3A):c.1810C>T (p.Arg604Trp)	DNMT3A (R381W +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2868632	NM_022552.5(DNMT3A):c.89A>G (p.Glu30Gly)	DNMT3A (E30G)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2868527	NM_022552.5(DNMT3A):c.999C>T (p.Asp333=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2866217	NM_022552.5(DNMT3A):c.1245G>A (p.Gln415=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2863670	NM_022552.5(DNMT3A):c.174C>T (p.Pro58=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
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 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 2852059	NM_022552.5(DNMT3A):c.721G>A (p.Glu241Lys)	DNMT3A (E18K +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2851000	NM_022552.5(DNMT3A):c.625C>T (p.Arg209Cys)	DNMT3A (R209C)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2850885	NM_022552.5(DNMT3A):c.158G>A (p.Arg53Lys)	DNMT3A (R53K)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2848830	NM_022552.5(DNMT3A):c.194C>T (p.Thr65Met)	DNMT3A (T65M)	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 2844336	NM_022552.5(DNMT3A):c.482T>A (p.Met161Lys)	DNMT3A, LOC129933290 (M161K)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2840268	NM_022552.5(DNMT3A):c.1015-8C>A	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2839716	NM_022552.5(DNMT3A):c.856-7G>A	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2832914	NM_022552.5(DNMT3A):c.249C>T (p.Gly83=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2832593	NM_022552.5(DNMT3A):c.733C>A (p.Pro245Thr)	DNMT3A (P22T +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2827749	NM_022552.5(DNMT3A):c.300G>A (p.Gln100=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2824426	NM_022552.5(DNMT3A):c.1532dup (p.Gly512fs)	DNMT3A (G512fs +3 more)	Duplication (frameshift variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 2811419	NM_022552.5(DNMT3A):c.640-5C>T	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2810724	NM_022552.5(DNMT3A):c.147G>T (p.Gly49=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2805743	NM_022552.5(DNMT3A):c.296C>T (p.Pro99Leu)	DNMT3A (P99L)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2803888	NM_022552.5(DNMT3A):c.640-10G>T	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2801853	NM_022552.5(DNMT3A):c.21C>T (p.Ser7=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2797686	NM_022552.5(DNMT3A):c.662T>C (p.Ile221Thr)	DNMT3A (I32T +2 more)	Single nucleotide variant (missense variant +2 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2793682	NM_022552.5(DNMT3A):c.27del (p.Asp11fs)	DNMT3A (D11fs)	Deletion (frameshift variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
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 2778282	NM_022552.5(DNMT3A):c.373C>G (p.Leu125Val)	DNMT3A (L125V)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2766521	NM_022552.5(DNMT3A):c.1555-37_1555-18del	DNMT3A	Deletion (intron variant)	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 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 2762551	NM_022552.5(DNMT3A):c.867_870del (p.Phe290fs)	DNMT3A (F67fs +3 more)	Deletion (frameshift variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
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 2756141	NM_022552.5(DNMT3A):c.457C>T (p.Gln153Ter)	DNMT3A, LOC129933290 (Q153*)	Single nucleotide variant (nonsense +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

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