"PreventionGenetics, part of Exact Sciences"[submitter] AND "DNMT3A"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GLikely benign
Select item 499517	NM_022552.5(DNMT3A):c.2676A>G (p.Ser892=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +2 more	GConflicting classifications of pathogenicity
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 provided +3 more	GBenign/Likely benign
Select item 742643	NM_022552.5(DNMT3A):c.2628C>T (p.Asp876=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	DNMT3A-related disorder +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 disorder	GUncertain significance
Select item 3031643	NM_022552.5(DNMT3A):c.2625T>C (p.Thr875=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	DNMT3A-related disorder	GLikely benign
Select item 434951	NM_022552.5(DNMT3A):c.2598-3C>T	DNMT3A	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 2630862	NM_022552.5(DNMT3A):c.2516C>T (p.Ser839Phe)	DNMT3A (S616F +3 more)	Single nucleotide variant (missense variant +1 more)	DNMT3A-related disorder	GUncertain significance
Select item 3055969	NM_022552.5(DNMT3A):c.2479-6A>G	DNMT3A	Single nucleotide variant (intron variant)	DNMT3A-related disorder	GLikely benign
Select item 3031588	NM_022552.5(DNMT3A):c.2479-7C>A	DNMT3A	Single nucleotide variant (intron variant)	DNMT3A-related disorder	GLikely benign
Select item 3036347	NM_022552.5(DNMT3A):c.2479-10C>T	DNMT3A	Single nucleotide variant (intron variant)	DNMT3A-related disorder	GLikely benign
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 740062	NM_022552.5(DNMT3A):c.2331T>C (p.Pro777=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	DNMT3A-related disorder +1 more	GLikely benign
Select item 2629187	NM_022552.5(DNMT3A):c.2190CTT[1] (p.Phe732del)	DNMT3A (F509del +3 more)	Microsatellite (inframe_deletion +1 more)	DNMT3A-related disorder +1 more	GUncertain significance
Select item 3031703	NM_022552.5(DNMT3A):c.2174-4_2174-3del	DNMT3A	Microsatellite (intron variant)	DNMT3A-related disorder	GLikely benign
Select item 3057908	NM_022552.5(DNMT3A):c.2173+9C>T	DNMT3A	Single nucleotide variant (intron variant)	DNMT3A-related disorder	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 3037111	NM_022552.5(DNMT3A):c.2103C>T (p.Phe701=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	DNMT3A-related disorder	GLikely benign
Select item 3058123	NM_022552.5(DNMT3A):c.1936+8G>A	DNMT3A	Single nucleotide variant (intron variant)	DNMT3A-related disorder	GLikely benign
Select item 3031950	NM_022552.5(DNMT3A):c.1936+3G>A	DNMT3A	Single nucleotide variant (intron variant)	DNMT3A-related disorder	GLikely benign
Select item 2725395	NM_022552.5(DNMT3A):c.1852-5C>T	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GLikely benign
Select item 2635178	NM_022552.5(DNMT3A):c.1803G>A (p.Trp601Ter)	DNMT3A (W378* +3 more)	Single nucleotide variant (nonsense +1 more)	DNMT3A-related disorder	GPathogenic
Select item 2727128	NM_022552.5(DNMT3A):c.1716C>G (p.Ala572=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GLikely benign
Select item 772037	NM_022552.5(DNMT3A):c.1677C>T (p.Cys559=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +2 more	GBenign/Likely benign
Select item 3032702	NM_022552.5(DNMT3A):c.1590C>T (p.Asp530=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	DNMT3A-related disorder	GLikely benign
Select item 725149	NM_022552.5(DNMT3A):c.1575G>A (p.Ala525=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GLikely benign
Select item 133986	NM_022552.5(DNMT3A):c.1502A>G (p.Asn501Ser)	DNMT3A (N312S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely benign
Select item 434952	NM_022552.5(DNMT3A):c.1491T>C (p.Cys497=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2180370	NM_022552.5(DNMT3A):c.1475-4C>G	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GLikely benign
Select item 2636114	NM_022552.5(DNMT3A):c.1469T>C (p.Ile490Thr)	DNMT3A (I267T +3 more)	Single nucleotide variant (missense variant +1 more)	DNMT3A-related disorder	GUncertain significance
Select item 3036576	NM_022552.5(DNMT3A):c.1448T>C (p.Val483Ala)	DNMT3A (V260A +3 more)	Single nucleotide variant (missense variant +1 more)	DNMT3A-related disorder	GUncertain significance
Select item 1250188	NM_022552.5(DNMT3A):c.1443C>T (p.Tyr481=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	DNMT3A-related disorder +2 more	GBenign/Likely benign
Select item 750746	NM_022552.5(DNMT3A):c.1432C>A (p.Arg478=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1337006	NM_022552.5(DNMT3A):c.1385C>T (p.Ala462Val)	DNMT3A (A239V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1186740	NM_022552.5(DNMT3A):c.1344C>T (p.Tyr448=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +2 more	GLikely benign
Select item 2703891	NM_022552.5(DNMT3A):c.1280A>G (p.Glu427Gly)	DNMT3A (E275G +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GUncertain significance
Select item 2199567	NM_022552.5(DNMT3A):c.1242C>T (p.Phe414=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GLikely benign
Select item 766915	NM_022552.5(DNMT3A):c.1170C>T (p.Ser390=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +2 more	GBenign/Likely benign
Select item 767290	NM_022552.5(DNMT3A):c.1164C>T (p.His388=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	DNMT3A-related disorder +1 more	GLikely benign
Select item 434953	NM_022552.5(DNMT3A):c.1155G>A (p.Pro385=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1954872	NM_022552.5(DNMT3A):c.1140G>C (p.Ala380=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GLikely benign
Select item 2440980	NM_022552.5(DNMT3A):c.1138G>A (p.Ala380Thr)	DNMT3A (A157T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 434957	NM_022552.5(DNMT3A):c.1135C>T (p.Arg379Cys)	DNMT3A (R190C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 836804	NM_022552.5(DNMT3A):c.1122+3G>A	DNMT3A	Single nucleotide variant (intron variant)	DNMT3A-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2181158	NM_022552.5(DNMT3A):c.1110C>T (p.Tyr370=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 742642	NM_022552.5(DNMT3A):c.1074G>A (p.Thr358=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	DNMT3A-related disorder +2 more	GLikely benign
Select item 3043110	NM_022552.5(DNMT3A):c.1041G>A (p.Leu347=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	DNMT3A-related disorder	GLikely benign
Select item 706997	NM_022552.5(DNMT3A):c.1038G>A (p.Pro346=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GLikely benign
Select item 3032798	NM_022552.5(DNMT3A):c.1015-4C>G	DNMT3A	Single nucleotide variant (intron variant)	DNMT3A-related disorder	GLikely benign
Select item 3029243	NM_022552.5(DNMT3A):c.1014+7T>C	DNMT3A	Single nucleotide variant (intron variant)	DNMT3A-related disorder	GLikely benign
Select item 2868527	NM_022552.5(DNMT3A):c.999C>T (p.Asp333=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	DNMT3A-related disorder +1 more	GLikely benign
Select item 3056210	NM_022552.5(DNMT3A):c.948G>C (p.Thr316=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	DNMT3A-related disorder	GLikely benign
Select item 2102097	NM_022552.5(DNMT3A):c.840C>T (p.Asp280=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GLikely benign
Select item 3034674	NM_022552.5(DNMT3A):c.795G>T (p.Val265=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	DNMT3A-related disorder	GLikely benign
Select item 745393	NM_022552.5(DNMT3A):c.774G>C (p.Val258=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 434955	NM_022552.5(DNMT3A):c.759C>T (p.Pro253=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 2873940	NM_022552.5(DNMT3A):c.699C>T (p.Pro233=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	DNMT3A-related disorder +1 more	GLikely benign
Select item 2629834	NM_022552.5(DNMT3A):c.640-1408T>A	DNMT3A (D23E)	Single nucleotide variant (missense variant +1 more)	DNMT3A-related disorder	GUncertain significance
Select item 3030751	NM_022552.5(DNMT3A):c.640-1438C>T	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	DNMT3A-related disorder	GLikely benign
Select item 977365	NM_022552.5(DNMT3A):c.640-1439G>A	DNMT3A (R13H)	Single nucleotide variant (missense variant +1 more)	DNMT3A-related disorder	GLikely benign
Select item 3057746	NM_022552.5(DNMT3A):c.640-1471G>A	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	DNMT3A-related disorder	GLikely benign
Select item 2633271	NM_022552.5(DNMT3A):c.640-3659G>A	DNMT3A	Single nucleotide variant (intron variant +1 more)	DNMT3A-related disorder	GUncertain significance
Select item 2650726	NM_022552.5(DNMT3A):c.640-3676C>G	DNMT3A (P56R)	Single nucleotide variant (missense variant +1 more)	DNMT3A-related disorder +1 more	GBenign/Likely benign
Select item 3036455	NM_022552.5(DNMT3A):c.640-3717G>A	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	DNMT3A-related disorder	GLikely benign
Select item 2628633	NM_022552.5(DNMT3A):c.640-3749G>A	DNMT3A (E32K)	Single nucleotide variant (missense variant +1 more)	DNMT3A-related disorder	GUncertain significance
Select item 2632273	NM_022552.5(DNMT3A):c.640-3760T>C	DNMT3A (L28P)	Single nucleotide variant (missense variant +1 more)	DNMT3A-related disorder	GUncertain significance
Select item 3061731	NM_022552.5(DNMT3A):c.640-3764C>A	DNMT3A (R27S)	Single nucleotide variant (missense variant +1 more)	DNMT3A-related disorder	GUncertain significance
Select item 3056079	NM_022552.5(DNMT3A):c.640-3830C>G	DNMT3A, LOC129933288 (P5A)	Single nucleotide variant (missense variant +1 more)	DNMT3A-related disorder	GUncertain significance
Select item 2635657	NM_022552.5(DNMT3A):c.640-3841T>A	DNMT3A, LOC129933288 (M1K)	Single nucleotide variant (missense variant +2 more)	DNMT3A-related disorder	GUncertain significance
Select item 2716100	NM_022552.5(DNMT3A):c.639+7C>T	DNMT3A	Single nucleotide variant (intron variant)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GLikely benign
Select item 662257	NM_022552.5(DNMT3A):c.639+6G>C	DNMT3A	Single nucleotide variant (intron variant)	DNMT3A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1207264	NM_022552.5(DNMT3A):c.558G>A (p.Pro186=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	DNMT3A-related disorder +2 more	GLikely benign
Select item 2628699	NM_022552.5(DNMT3A):c.481A>G (p.Met161Val)	DNMT3A, LOC129933290 (M161V)	Single nucleotide variant (missense variant +1 more)	DNMT3A-related disorder	GUncertain significance
Select item 2306266	NM_022552.5(DNMT3A):c.448+48C>G	DNMT3A (P166A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 721567	NM_022552.5(DNMT3A):c.448+7C>T	DNMT3A (S152F)	Single nucleotide variant (intron variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3058186	NM_022552.5(DNMT3A):c.429A>T (p.Arg143=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	DNMT3A-related disorder	GLikely benign
Select item 2629279	NM_022552.5(DNMT3A):c.353G>C (p.Gly118Ala)	DNMT3A (G118A)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GUncertain significance
Select item 2197242	NM_022552.5(DNMT3A):c.337G>A (p.Gly113Arg)	DNMT3A (G113R)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GUncertain significance
Select item 2703846	NM_022552.5(DNMT3A):c.336C>T (p.Gly112=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GLikely benign
Select item 3046683	NM_022552.5(DNMT3A):c.249C>A (p.Gly83=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	DNMT3A-related disorder	GLikely benign
Select item 737766	NM_022552.5(DNMT3A):c.210G>A (p.Ala70=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 783183	NM_022552.5(DNMT3A):c.187G>A (p.Gly63Ser)	DNMT3A (G63S)	Single nucleotide variant (missense variant +1 more)	DNMT3A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3032117	NM_022552.5(DNMT3A):c.178-9C>T	DNMT3A	Single nucleotide variant (intron variant)	DNMT3A-related disorder	GLikely benign
Select item 2628975	NM_022552.5(DNMT3A):c.164G>A (p.Arg55His)	DNMT3A (R55H)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GUncertain significance
Select item 133983	NM_022552.5(DNMT3A):c.131C>T (p.Thr44Met)	DNMT3A (T44M)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GConflicting classifications of pathogenicity
Select item 707468	NM_022552.5(DNMT3A):c.120G>A (p.Glu40=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 1341936	NM_022552.5(DNMT3A):c.113G>A (p.Arg38His)	DNMT3A (R38H)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GUncertain significance
Select item 133982	NM_022552.5(DNMT3A):c.89A>C (p.Glu30Ala)	DNMT3A (E30A)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +2 more	GBenign/Likely benign
Select item 1188417	NM_022552.5(DNMT3A):c.76G>A (p.Gly26Arg)	DNMT3A (G26R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2071645	NM_022552.5(DNMT3A):c.75C>T (p.Asp25=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GLikely benign
Select item 541939	NM_022552.5(DNMT3A):c.72+10G>A	DNMT3A	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 434956	NM_022552.5(DNMT3A):c.72+9C>T	DNMT3A	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 2631501	NM_022552.5(DNMT3A):c.71A>C (p.Lys24Thr)	DNMT3A (K24T)	Single nucleotide variant (missense variant +1 more)	DNMT3A-related disorder	GUncertain significance
Select item 3054293	NM_022552.5(DNMT3A):c.66C>T (p.Asp22=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	DNMT3A-related disorder	GLikely benign
Select item 1129809	NM_022552.5(DNMT3A):c.51G>A (p.Ala17=)	DNMT3A	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	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 +1 more	GLikely benign

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