14129[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 3274921	NM_006709.5(EHMT2):c.3560G>A (p.Ser1187Asn)	EHMT2, EHMT2-AS1 (S1101N +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 (non-coding transcript 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 (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 3274920	NM_006709.5(EHMT2):c.2906C>G (p.Thr969Ser)	EHMT2, EHMT2-AS1 (T767S +9 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
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 3274919	NM_006709.5(EHMT2):c.1426G>C (p.Ala476Pro)	EHMT2 (A476P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274916	NM_006709.5(EHMT2):c.1397G>A (p.Arg466Gln)	EHMT2 (R523Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3274918	NM_006709.5(EHMT2):c.662C>A (p.Thr221Asn)	EHMT2 (T221N +2 more)	Single nucleotide variant (missense variant)	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 3274917	NM_006709.5(EHMT2):c.127G>T (p.Asp43Tyr)	EHMT2 (D100Y +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 3246239	NC_000006.11:g.(?_31620520)_(31937492_?)del	ABHD16A, APOM +28 more	Deletion	not provided	GUncertain significance
Select item 3246158	NC_000006.11:g.(?_31631971)_(31895135_?)del	ABHD16A, C2 +23 more	Deletion	not provided	GPathogenic
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +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)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 69