"Genetic Services Laboratory, University of Chicago"[submitter] AND "E - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 195381	NM_024757.5(EHMT1):c.35G>C (p.Arg12Thr)	EHMT1 (R12T)	Single nucleotide variant (missense variant +1 more)	not specified +2 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 435035	NM_024757.5(EHMT1):c.85+9G>A	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1 +2 more	GLikely benign
Select item 96139	NM_024757.5(EHMT1):c.128C>G (p.Ala43Gly)	EHMT1 (A43G +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +3 more	GBenign
Select item 96140	NM_024757.5(EHMT1):c.129A>T (p.Ala43=)	EHMT1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 128976	NM_024757.5(EHMT1):c.148G>A (p.Ala50Thr)	EHMT1 (A50T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign
Select item 365990	NM_024757.5(EHMT1):c.150G>A (p.Ala50=)	EHMT1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 210917	NM_024757.5(EHMT1):c.159G>T (p.Glu53Asp)	EHMT1 (E53D +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +3 more	GLikely benign
Select item 435036	NM_024757.5(EHMT1):c.162C>G (p.Thr54=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1 +1 more	GLikely benign
Select item 196522	NM_024757.5(EHMT1):c.183C>T (p.Ser61=)	EHMT1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 365992	NM_024757.5(EHMT1):c.251G>A (p.Gly84Asp)	EHMT1 (G84D +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely 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 1338352	NM_024757.5(EHMT1):c.300_305del (p.Asp100_Ser101del)	EHMT1	Deletion (inframe_deletion)	not specified	GLikely benign
Select item 128980	NM_024757.5(EHMT1):c.309G>A (p.Ala103=)	EHMT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 128981	NM_024757.5(EHMT1):c.316C>G (p.Gln106Glu)	EHMT1 (Q106E +1 more)	Single nucleotide variant (missense variant)	EHMT1-related disorder +3 more	GBenign/Likely benign
Select item 435043	NM_024757.5(EHMT1):c.358A>G (p.Ile120Val)	EHMT1 (I120V +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 462998	NM_024757.5(EHMT1):c.390G>T (p.Pro130=)	EHMT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 provided +3 more	GBenign
Select item 167034	NM_024757.5(EHMT1):c.480C>T (p.Gly160=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1 +3 more	GBenign/Likely benign
Select item 128982	NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser)	EHMT1 (P176S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 210928	NM_024757.5(EHMT1):c.576G>A (p.Pro192=)	EHMT1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 725950	NM_024757.5(EHMT1):c.672T>C (p.Val224=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1 +1 more	GLikely benign
Select item 210929	NM_024757.5(EHMT1):c.797A>G (p.Tyr266Cys)	EHMT1 (Y266C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 210930	NM_024757.5(EHMT1):c.905A>G (p.Lys302Arg)	EHMT1 (K302R +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 210931	NM_024757.5(EHMT1):c.981+7G>A	EHMT1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 435037	NM_024757.5(EHMT1):c.1014C>T (p.His338=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1 +1 more	GBenign/Likely benign
Select item 65723	NM_024757.5(EHMT1):c.1044G>A (p.Ser348=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1 +3 more	GBenign
Select item 531848	NM_024757.5(EHMT1):c.1081G>A (p.Gly361Ser)	EHMT1 (G361S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 210916	NM_024757.5(EHMT1):c.1094A>G (p.Glu365Gly)	EHMT1 (E365G +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 435038	NM_024757.5(EHMT1):c.1107G>A (p.Ala369=)	EHMT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 286417	NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu)	EHMT1 (K379E +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 128975	NM_024757.5(EHMT1):c.1162G>A (p.Ala388Thr)	EHMT1 (A388T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign
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 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 435047	NM_024757.5(EHMT1):c.1636G>A (p.Val546Met)	EHMT1, LOC130003148 (V546M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 435040	NM_024757.5(EHMT1):c.1858C>A (p.Arg620=)	EHMT1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 128977	NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser)	EHMT1 (N622S +2 more)	Single nucleotide variant (missense variant)	EHMT1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 96145	NM_024757.5(EHMT1):c.1869C>T (p.Asn623=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1 +3 more	GBenign
Select item 210918	NM_024757.5(EHMT1):c.1950C>T (p.Thr650=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1 +3 more	GBenign
Select item 1336534	NM_024757.5(EHMT1):c.2010A>T (p.Thr670=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 210919	NM_024757.5(EHMT1):c.2011A>G (p.Thr671Ala)	EHMT1 (T671A +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +1 more	GUncertain significance
Select item 435044	NM_024757.5(EHMT1):c.2368C>T (p.His790Tyr)	EHMT1 (H790Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 128978	NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu)	EHMT1 (P809L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 210920	NM_024757.5(EHMT1):c.2642C>T (p.Thr881Ile)	EHMT1 (T881I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 210921	NM_024757.5(EHMT1):c.2712+9G>A	EHMT1	Single nucleotide variant (intron variant)	Kleefstra syndrome 1 +1 more	GLikely benign
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 210922	NM_024757.5(EHMT1):c.2839G>A (p.Ala947Thr)	EHMT1 (A947T +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1135499	NM_024757.5(EHMT1):c.2925C>T (p.Pro975=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1 +1 more	GLikely benign
Select item 210923	NM_024757.5(EHMT1):c.2996C>T (p.Ala999Val)	EHMT1 (A999V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 96151	NM_024757.5(EHMT1):c.3000C>T (p.Pro1000=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1 +3 more	GBenign
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 210924	NM_024757.5(EHMT1):c.3028G>A (p.Val1010Met)	EHMT1 (V1010M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 128979	NM_024757.5(EHMT1):c.3087G>A (p.Val1029=)	EHMT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 435041	NM_024757.5(EHMT1):c.3105C>T (p.Pro1035=)	EHMT1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 210925	NM_024757.5(EHMT1):c.3123C>A (p.Val1041=)	EHMT1	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 210926	NM_024757.5(EHMT1):c.3198C>T (p.Asp1066=)	EHMT1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 435042	NM_024757.5(EHMT1):c.3374+9C>G	EHMT1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 96155	NM_024757.5(EHMT1):c.3375-9A>C	EHMT1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 435046	NM_024757.5(EHMT1):c.3583_3594del (p.Val1195_Phe1198del)	EHMT1	Deletion (inframe_deletion)	Kleefstra syndrome 1	GLikely pathogenic
Select item 96160	NM_024757.5(EHMT1):c.3735C>T (p.Arg1245=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1 +3 more	GBenign
Select item 210927	NM_024757.5(EHMT1):c.3864C>T (p.Asp1288=)	EHMT1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity

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Items: 66