EHMT2[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 3087819	NM_006709.5(EHMT2):c.3346G>A (p.Asp1116Asn)	EHMT2, EHMT2-AS1 (D1081N +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2687731	NM_006709.5(EHMT2):c.3229G>T (p.Ala1077Ser)	EHMT2, EHMT2-AS1 (A1042S +10 more)	Single nucleotide variant (missense variant +1 more)	Kleefstra-like syndrome	GPathogenic
Select item 2328336	NM_006709.5(EHMT2):c.3142A>T (p.Met1048Leu)	EHMT2, EHMT2-AS1 (M1014L +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2656431	NM_006709.5(EHMT2):c.2961C>T (p.Cys987=)	EHMT2, EHMT2-AS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3087818	NM_006709.5(EHMT2):c.2897G>T (p.Arg966Leu)	EHMT2, EHMT2-AS1 (R880L +9 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 780615	NM_006709.5(EHMT2):c.2877G>A (p.Thr959=)	EHMT2, EHMT2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2330085	NM_006709.5(EHMT2):c.2735G>A (p.Gly912Glu)	EHMT2 (G710E +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377343	NM_006709.5(EHMT2):c.2719C>A (p.Leu907Ile)	EHMT2 (L821I +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087817	NM_006709.5(EHMT2):c.2681G>A (p.Arg894His)	EHMT2 (R867H +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087816	NM_006709.5(EHMT2):c.2534A>G (p.His845Arg)	EHMT2 (H810R +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614919	NM_006709.5(EHMT2):c.2519C>T (p.Ala840Val)	EHMT2 (A806V +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248697	NM_006709.5(EHMT2):c.2452G>A (p.Glu818Lys)	EHMT2 (E783K +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511495	NM_006709.5(EHMT2):c.2419C>T (p.Arg807Trp)	EHMT2 (R807W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087815	NM_006709.5(EHMT2):c.2209A>G (p.Met737Val)	EHMT2 (M760V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480326	NM_006709.5(EHMT2):c.2207A>G (p.Tyr736Cys)	EHMT2 (Y650C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215801	NM_006709.5(EHMT2):c.2201C>T (p.Ala734Val)	EHMT2 (A700V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370849	NM_006709.5(EHMT2):c.2159C>T (p.Thr720Met)	EHMT2 (T634M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220826	NM_006709.5(EHMT2):c.2018A>G (p.Asn673Ser)	EHMT2 (N639S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087813	NM_006709.5(EHMT2):c.1948C>T (p.His650Tyr)	EHMT2 (H564Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724731	NM_006709.5(EHMT2):c.1878G>T (p.Gly626=)	EHMT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3087812	NM_006709.5(EHMT2):c.1847G>T (p.Gly616Val)	EHMT2 (G673V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468728	NM_006709.5(EHMT2):c.1778G>A (p.Arg593His)	EHMT2 (R559H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255330	NM_006709.5(EHMT2):c.1763A>T (p.His588Leu)	EHMT2 (H588L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410749	NM_006709.5(EHMT2):c.1732A>G (p.Thr578Ala)	EHMT2 (T492A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378766	NM_006709.5(EHMT2):c.1675G>A (p.Gly559Ser)	EHMT2 (G473S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461627	NM_006709.5(EHMT2):c.1649G>A (p.Arg550Gln)	EHMT2 (R607Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371741	NM_006709.5(EHMT2):c.1505C>T (p.Thr502Met)	EHMT2 (T416M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 753470	NM_006709.5(EHMT2):c.1485G>C (p.Pro495=)	EHMT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2251472	NM_006709.5(EHMT2):c.1460G>A (p.Arg487His)	EHMT2 (R401H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291236	NM_006709.5(EHMT2):c.1456G>A (p.Ala486Thr)	EHMT2 (A400T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1276428	NM_006709.5(EHMT2):c.1437G>A (p.Val479=)	EHMT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 758862	NM_006709.5(EHMT2):c.1329G>C (p.Gly443=)	EHMT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 758863	NM_006709.5(EHMT2):c.1212C>T (p.His404=)	EHMT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2369250	NM_006709.5(EHMT2):c.1198C>T (p.Leu400Phe)	EHMT2 (L400F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612231	NM_006709.5(EHMT2):c.1192G>T (p.Gly398Trp)	EHMT2 (G189W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520380	NM_006709.5(EHMT2):c.1085G>A (p.Arg362Gln)	EHMT2 (R153Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087810	NM_006709.5(EHMT2):c.1075C>T (p.Arg359Trp)	EHMT2 (R150W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 753997	NM_006709.5(EHMT2):c.865-7C>T	EHMT2	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided	GLikely benign
Select item 2354943	NM_006709.5(EHMT2):c.847G>A (p.Val283Met)	EHMT2 (V340M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 716121	NM_006709.5(EHMT2):c.792G>A (p.Thr264=)	EHMT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 753471	NM_006709.5(EHMT2):c.768C>T (p.Pro256=)	EHMT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2321081	NM_006709.5(EHMT2):c.733C>T (p.Arg245Cys)	EHMT2 (R302C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087823	NM_006709.5(EHMT2):c.730C>T (p.Arg244Trp)	EHMT2 (R301W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087822	NM_006709.5(EHMT2):c.587C>T (p.Pro196Leu)	EHMT2 (P253L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545885	NM_006709.5(EHMT2):c.559A>G (p.Met187Val)	EHMT2 (M244V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087821	NM_006709.5(EHMT2):c.515C>T (p.Thr172Met)	EHMT2 (T229M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345420	NM_006709.5(EHMT2):c.458G>C (p.Ser153Thr)	EHMT2 (S153T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328337	NM_006709.5(EHMT2):c.396G>A (p.Met132Ile)	EHMT2 (M132I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1235703	NM_006709.5(EHMT2):c.329-11C>T	EHMT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 790730	NM_006709.5(EHMT2):c.301G>A (p.Asp101Asn)	EHMT2 (D158N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2517902	NM_006709.5(EHMT2):c.169G>A (p.Asp57Asn)	EHMT2 (D114N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087811	NM_006709.5(EHMT2):c.160G>C (p.Ala54Pro)	EHMT2 (A111P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087820	NM_006709.5(EHMT2):c.49G>C (p.Ala17Pro)	EHMT2 (A74P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 1527232	GRCh37/hg19 6p21.33(chr6:31384577-31902308)	ABHD16A, AIF1 +40 more	Copy number gain	not specified	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 61