"PreventionGenetics, part of Exact Sciences"[submitter] AND "EHMT1"[ge - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 287198	NM_024757.5(EHMT1):c.32C>T (p.Ala11Val)	EHMT1 (A11V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 195380	NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys)	EHMT1 (E24K)	Single nucleotide variant (missense variant +1 more)	Kleefstra syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 792806	NM_024757.5(EHMT1):c.85+8C>T	EHMT1	Single nucleotide variant (intron variant)	EHMT1-related disorder +1 more	GLikely benign
Select item 435035	NM_024757.5(EHMT1):c.85+9G>A	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1 +2 more	GLikely benign
Select item 1140935	NM_024757.5(EHMT1):c.102C>G (p.Ala34=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1 +2 more	GLikely benign
Select item 660553	NM_024757.5(EHMT1):c.149C>T (p.Ala50Val)	EHMT1 (A19V +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 733087	NM_024757.5(EHMT1):c.237C>G (p.Val79=)	EHMT1	Single nucleotide variant (synonymous variant)	EHMT1-related disorder +1 more	GLikely benign
Select item 284403	NM_024757.5(EHMT1):c.271A>T (p.Ile91Leu)	EHMT1 (I91L +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 196523	NM_024757.5(EHMT1):c.298G>A (p.Asp100Asn)	EHMT1 (D100N +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 462992	NM_024757.5(EHMT1):c.311C>T (p.Ala104Val)	EHMT1 (A104V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 752638	NM_024757.5(EHMT1):c.312G>A (p.Ala104=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1 +1 more	GBenign/Likely benign
Select item 128981	NM_024757.5(EHMT1):c.316C>G (p.Gln106Glu)	EHMT1 (Q106E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 365993	NM_024757.5(EHMT1):c.324C>T (p.His108=)	EHMT1	Single nucleotide variant (synonymous variant)	EHMT1-related disorder +2 more	GBenign/Likely benign
Select item 1943198	NM_024757.5(EHMT1):c.388C>T (p.Pro130Ser)	EHMT1 (P130S +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +1 more	GUncertain significance
Select item 96162	NM_024757.5(EHMT1):c.432C>T (p.Ala144=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1 +4 more	GBenign/Likely benign
Select item 65738	NM_024757.5(EHMT1):c.444T>C (p.Pro148=)	EHMT1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 2194479	NM_024757.5(EHMT1):c.496A>G (p.Ser166Gly)	EHMT1 (S135G +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 96166	NM_024757.5(EHMT1):c.575C>T (p.Pro192Leu)	EHMT1 (P192L +1 more)	Single nucleotide variant (missense variant)	EHMT1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1444126	NM_024757.5(EHMT1):c.632T>C (p.Val211Ala)	EHMT1 (V180A +1 more)	Single nucleotide variant (missense variant)	EHMT1-related disorder +3 more	GUncertain significance
Select item 833765	NM_024757.5(EHMT1):c.770A>C (p.His257Pro)	EHMT1 (H226P +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +3 more	GBenign/Likely benign
Select item 2633738	NM_024757.5(EHMT1):c.808A>T (p.Thr270Ser)	EHMT1 (T239S +1 more)	Single nucleotide variant (missense variant)	EHMT1-related disorder	GUncertain significance
Select item 3055177	NM_024757.5(EHMT1):c.824-6_824-3del	EHMT1	Deletion (intron variant)	EHMT1-related disorder	GLikely benign
Select item 531861	NM_024757.5(EHMT1):c.932C>T (p.Thr311Met)	EHMT1 (T311M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 65723	NM_024757.5(EHMT1):c.1044G>A (p.Ser348=)	EHMT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 65724	NM_024757.5(EHMT1):c.1089T>C (p.Gly363=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1 +3 more	GBenign
Select item 1096006	NM_024757.5(EHMT1):c.1104C>T (p.Ala368=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1 +1 more	GLikely benign
Select item 531847	NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp)	EHMT1 (E380D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 366003	NM_024757.5(EHMT1):c.1160G>A (p.Arg387His)	EHMT1 (R387H +2 more)	Single nucleotide variant (missense variant)	EHMT1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 435039	NM_024757.5(EHMT1):c.1176C>T (p.Asp392=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1 +3 more	GLikely benign
Select item 2014779	NM_024757.5(EHMT1):c.1296G>C (p.Lys432Asn)	EHMT1 (K432N +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +1 more	GUncertain significance
Select item 1136092	NM_024757.5(EHMT1):c.1308C>T (p.Pro436=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1 +1 more	GLikely benign
Select item 366008	NM_024757.5(EHMT1):c.1360G>A (p.Gly454Ser)	EHMT1 (G454S +2 more)	Single nucleotide variant (missense variant)	EHMT1-related disorder +1 more	GBenign/Likely benign
Select item 65725	NM_024757.5(EHMT1):c.1368C>T (p.Leu456=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1 +3 more	GBenign
Select item 96141	NM_024757.5(EHMT1):c.1369+9C>T	EHMT1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1015103	NM_024757.5(EHMT1):c.1729G>T (p.Asp577Tyr)	EHMT1 (D546Y +2 more)	Single nucleotide variant (missense variant)	EHMT1-related disorder +1 more	GUncertain significance
Select item 128977	NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser)	EHMT1 (N622S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 286384	NM_024757.5(EHMT1):c.1947G>A (p.Ser649=)	EHMT1	Single nucleotide variant (synonymous variant)	EHMT1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2011922	NM_024757.5(EHMT1):c.2027G>T (p.Gly676Val)	EHMT1 (G669V +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +1 more	GUncertain significance
Select item 167035	NM_024757.5(EHMT1):c.2040G>A (p.Ser680=)	EHMT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 2628527	NM_024757.5(EHMT1):c.2104G>A (p.Ala702Thr)	EHMT1 (A671T +2 more)	Single nucleotide variant (missense variant)	EHMT1-related disorder	GUncertain significance
Select item 366012	NM_024757.5(EHMT1):c.2127C>T (p.Pro709=)	EHMT1	Single nucleotide variant (synonymous variant)	EHMT1-related disorder +1 more	GLikely benign
Select item 3038480	NM_024757.5(EHMT1):c.2382+1700T>G	EHMT1, LOC651337	Single nucleotide variant (non-coding transcript variant +1 more)	EHMT1-related disorder	GLikely benign
Select item 497756	NM_024757.5(EHMT1):c.2442C>T (p.Ala814=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 3058138	NM_024757.5(EHMT1):c.2505+1110C>T	EHMT1 (T813M)	Single nucleotide variant (missense variant +1 more)	EHMT1-related disorder	GLikely benign
Select item 2659839	NM_024757.5(EHMT1):c.2505+1146T>G	EHMT1 (L825W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2635345	NM_024757.5(EHMT1):c.2513A>G (p.Glu838Gly)	EHMT1 (E831G +1 more)	Single nucleotide variant (missense variant)	EHMT1-related disorder	GUncertain significance
Select item 740624	NM_024757.5(EHMT1):c.2556C>T (p.Tyr852=)	EHMT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 194788	NM_024757.5(EHMT1):c.2595C>T (p.Asp865=)	EHMT1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2632293	NM_024757.5(EHMT1):c.2610_2613dup (p.Gly872Ter)	EHMT1 (G865* +1 more)	Duplication (nonsense)	EHMT1-related disorder	GPathogenic
Select item 708279	NM_024757.5(EHMT1):c.2628C>T (p.Pro876=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1 +1 more	GBenign/Likely benign
Select item 194893	NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val)	EHMT1 (I899V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 435045	NM_024757.5(EHMT1):c.2755G>A (p.Val919Met)	EHMT1 (V919M +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 366022	NM_024757.5(EHMT1):c.2922G>A (p.Thr974=)	EHMT1	Single nucleotide variant (synonymous variant)	EHMT1-related disorder +3 more	GLikely benign
Select item 577444	NM_024757.5(EHMT1):c.2962G>A (p.Ala988Thr)	EHMT1 (A988T +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +2 more	GLikely benign
Select item 285020	NM_024757.5(EHMT1):c.2970G>T (p.Gln990His)	EHMT1 (Q990H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 195533	NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn)	EHMT1 (S1004N +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 96152	NM_024757.5(EHMT1):c.3016G>A (p.Val1006Met)	EHMT1 (V1006M +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1254225	NM_024757.5(EHMT1):c.3329C>T (p.Ser1110Phe)	EHMT1 (S1103F +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 833540	NM_024757.5(EHMT1):c.3358G>A (p.Val1120Ile)	EHMT1 (V1120I +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +1 more	GLikely benign
Select item 96154	NM_024757.5(EHMT1):c.3375-15CT[2]	EHMT1	Microsatellite (intron variant)	not specified +2 more	GBenign
Select item 1298385	NM_024757.5(EHMT1):c.3459C>T (p.Cys1153=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 2630435	NM_024757.5(EHMT1):c.3488C>G (p.Ser1163Ter)	EHMT1 (S1156* +1 more)	Single nucleotide variant (nonsense)	EHMT1-related disorder	GLikely pathogenic
Select item 738823	NM_024757.5(EHMT1):c.3498C>T (p.Asp1166=)	EHMT1	Single nucleotide variant (synonymous variant)	EHMT1-related disorder +1 more	GLikely benign
Select item 96157	NM_024757.5(EHMT1):c.3541-13TC[3]	EHMT1	Microsatellite (intron variant)	not specified +2 more	GBenign
Select item 1804441	NM_024757.5(EHMT1):c.3563A>G (p.Asp1188Gly)	EHMT1 (D1181G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2629752	NM_024757.5(EHMT1):c.3590G>A (p.Arg1197Gln)	EHMT1 (R1190Q +1 more)	Single nucleotide variant (missense variant)	EHMT1-related disorder	GUncertain significance
Select item 531863	NM_024757.5(EHMT1):c.3716+9C>T	EHMT1	Single nucleotide variant (intron variant)	EHMT1-related disorder +1 more	GLikely benign
Select item 2630386	NM_024757.5(EHMT1):c.3757C>T (p.Leu1253Phe)	EHMT1 (L1246F +1 more)	Single nucleotide variant (missense variant)	EHMT1-related disorder	GUncertain significance
Select item 366033	NM_024757.5(EHMT1):c.3774C>T (p.Cys1258=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1 +3 more	GLikely benign
Select item 588335	NM_024757.5(EHMT1):c.3801C>T (p.Ser1267=)	EHMT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 578664	NM_024757.5(EHMT1):c.3818G>A (p.Arg1273His)	EHMT1 (R1273H +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 2777263	NM_024757.5(EHMT1):c.3891C>G (p.Pro1297=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1 +1 more	GLikely benign

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Items: 72