ESYT1[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 1707467	Single allele	ANKRD52, APOF +124 more	Duplication	not specified	GUncertain significance
Select item 2352139	NM_015292.3(ESYT1):c.19G>A (p.Glu7Lys)	ESYT1 (E7K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276536	NM_015292.3(ESYT1):c.38C>T (p.Pro13Leu)	ESYT1 (P13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250030	NM_015292.3(ESYT1):c.82C>T (p.Pro28Ser)	ESYT1 (P28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514987	NM_015292.3(ESYT1):c.83C>G (p.Pro28Arg)	ESYT1 (P28R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406749	NM_015292.3(ESYT1):c.85G>A (p.Ala29Thr)	ESYT1 (A29T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090630	NM_015292.3(ESYT1):c.145G>T (p.Gly49Cys)	ESYT1 (G49C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709894	NM_015292.3(ESYT1):c.246C>G (p.Leu82=)	ESYT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2384469	NM_015292.3(ESYT1):c.286G>A (p.Asp96Asn)	ESYT1 (D96N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552885	NM_015292.3(ESYT1):c.287A>G (p.Asp96Gly)	ESYT1 (D96G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457012	NM_015292.3(ESYT1):c.298C>G (p.Arg100Gly)	ESYT1 (R100G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276539	NM_015292.3(ESYT1):c.299G>A (p.Arg100Gln)	ESYT1 (R100Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090640	NM_015292.3(ESYT1):c.307C>G (p.Arg103Gly)	ESYT1 (R103G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308391	NM_015292.3(ESYT1):c.362A>G (p.Tyr121Cys)	ESYT1 (Y121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308081	NM_015292.3(ESYT1):c.371A>G (p.His124Arg)	ESYT1 (H124R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555821	NM_015292.3(ESYT1):c.377A>G (p.Glu126Gly)	ESYT1 (E126G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334591	NM_015292.3(ESYT1):c.424C>G (p.Leu142Val)	ESYT1 (L142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364249	NM_015292.3(ESYT1):c.481C>G (p.Leu161Val)	ESYT1 (L161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276540	NM_015292.3(ESYT1):c.548G>T (p.Arg183Leu)	ESYT1 (R183L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276535	NM_015292.3(ESYT1):c.560G>T (p.Gly187Val)	ESYT1 (G187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276542	NM_015292.3(ESYT1):c.564A>C (p.Glu188Asp)	ESYT1 (E188D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279250	NM_015292.3(ESYT1):c.574C>T (p.Arg192Cys)	ESYT1 (R192C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090642	NM_015292.3(ESYT1):c.577A>G (p.Ile193Val)	ESYT1 (I193V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276543	NM_015292.3(ESYT1):c.590A>C (p.Lys197Thr)	ESYT1 (K197T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509053	NM_015292.3(ESYT1):c.618G>T (p.Gln206His)	ESYT1 (Q206H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521914	NM_015292.3(ESYT1):c.671A>C (p.Glu224Ala)	ESYT1 (E224A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341792	NM_015292.3(ESYT1):c.752T>C (p.Ile251Thr)	ESYT1 (I251T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407693	NM_015292.3(ESYT1):c.784A>C (p.Met262Leu)	ESYT1 (M262L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270814	NM_015292.3(ESYT1):c.799C>T (p.Arg267Cys)	ESYT1 (R267C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483072	NM_015292.3(ESYT1):c.803C>T (p.Pro268Leu)	ESYT1 (P268L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090643	NM_015292.3(ESYT1):c.907G>T (p.Val303Leu)	ESYT1 (V303L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090645	NM_015292.3(ESYT1):c.920G>A (p.Arg307Gln)	ESYT1 (R307Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211674	NM_015292.3(ESYT1):c.1016G>A (p.Arg339Gln)	ESYT1 (R339Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249056	NM_015292.3(ESYT1):c.1058A>G (p.Glu353Gly)	ESYT1 (E353G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276541	NM_015292.3(ESYT1):c.1117G>T (p.Val373Phe)	ESYT1 (V373F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090628	NM_015292.3(ESYT1):c.1121T>C (p.Ile374Thr)	ESYT1 (I374T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469121	NM_015292.3(ESYT1):c.1174G>A (p.Glu392Lys)	ESYT1 (E392K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090629	NM_015292.3(ESYT1):c.1219C>G (p.Pro407Ala)	ESYT1 (P407A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539131	NM_015292.3(ESYT1):c.1282G>A (p.Val428Ile)	ESYT1 (V428I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622206	NM_015292.3(ESYT1):c.1295G>T (p.Trp432Leu)	ESYT1 (W432L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604608	NM_015292.3(ESYT1):c.1300C>T (p.Pro434Ser)	ESYT1 (P434S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227442	NM_015292.3(ESYT1):c.1316A>C (p.Gln439Pro)	ESYT1 (Q439P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623528	NM_015292.3(ESYT1):c.1363G>T (p.Ala455Ser)	ESYT1 (A455S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283551	NM_015292.3(ESYT1):c.1444G>A (p.Val482Ile)	ESYT1 (V482I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455442	NM_015292.3(ESYT1):c.1457G>A (p.Arg486Gln)	ESYT1 (R486Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247876	NM_015292.3(ESYT1):c.1474-28G>A	ESYT1 (M492I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090631	NM_015292.3(ESYT1):c.1482G>T (p.Lys494Asn)	ESYT1 (K494N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090632	NM_015292.3(ESYT1):c.1484G>A (p.Gly495Glu)	ESYT1 (G505E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301337	NM_015292.3(ESYT1):c.1500C>A (p.Asn500Lys)	ESYT1 (N500K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090634	NM_015292.3(ESYT1):c.1528G>A (p.Val510Met)	ESYT1 (V510M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773661	NM_015292.3(ESYT1):c.1584G>A (p.Ala528=)	ESYT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2532349	NM_015292.3(ESYT1):c.1588C>T (p.Arg530Trp)	ESYT1 (R530W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359321	NM_015292.3(ESYT1):c.1601A>C (p.Gln534Pro)	ESYT1 (Q534P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244520	NM_015292.3(ESYT1):c.1739G>T (p.Ser580Ile)	ESYT1 (S580I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474186	NM_015292.3(ESYT1):c.1745G>T (p.Gly582Val)	ESYT1 (G582V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560232	NM_015292.3(ESYT1):c.1756A>G (p.Arg586Gly)	ESYT1 (R586G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090635	NM_015292.3(ESYT1):c.1793T>G (p.Leu598Trp)	ESYT1 (L598W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779526	NM_015292.3(ESYT1):c.1821G>T (p.Thr607=)	ESYT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3090636	NM_015292.3(ESYT1):c.1879A>G (p.Ser627Gly)	ESYT1 (S627G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353310	NM_015292.3(ESYT1):c.1898G>A (p.Arg633Gln)	ESYT1 (R643Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220592	NM_015292.3(ESYT1):c.1910C>T (p.Thr637Met)	ESYT1 (T647M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297710	NM_015292.3(ESYT1):c.1979T>C (p.Ile660Thr)	ESYT1 (I660T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531708	NM_015292.3(ESYT1):c.1981G>A (p.Ala661Thr)	ESYT1 (A671T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605144	NM_015292.3(ESYT1):c.1999G>A (p.Gly667Arg)	ESYT1 (G677R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542070	NM_015292.3(ESYT1):c.2054G>A (p.Arg685Gln)	ESYT1 (R695Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784244	NM_015292.3(ESYT1):c.2121C>T (p.Ile707=)	ESYT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2595105	NM_015292.3(ESYT1):c.2134C>T (p.Pro712Ser)	ESYT1 (P712S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270515	NM_015292.3(ESYT1):c.2166C>A (p.Asp722Glu)	ESYT1 (D732E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377720	NM_015292.3(ESYT1):c.2329T>A (p.Leu777Ile)	ESYT1 (L777I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295170	NM_015292.3(ESYT1):c.2432C>T (p.Pro811Leu)	ESYT1 (P821L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411037	NM_015292.3(ESYT1):c.2515C>A (p.Gln839Lys)	ESYT1 (Q839K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209722	NM_015292.3(ESYT1):c.2530G>A (p.Val844Ile)	ESYT1 (V844I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2402323	NM_015292.3(ESYT1):c.2543G>T (p.Ser848Ile)	ESYT1 (S848I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554195	NM_015292.3(ESYT1):c.2567C>T (p.Pro856Leu)	ESYT1 (P856L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276538	NM_015292.3(ESYT1):c.2597G>A (p.Arg866Gln)	ESYT1 (R866Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090637	NM_015292.3(ESYT1):c.2674G>C (p.Asp892His)	ESYT1 (D892H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221622	NM_015292.3(ESYT1):c.2805T>A (p.Ser935Arg)	ESYT1 (S945R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218287	NM_015292.3(ESYT1):c.2822C>T (p.Ser941Leu)	ESYT1, LOC126861536 (S941L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090638	NM_015292.3(ESYT1):c.2852C>G (p.Ala951Gly)	ESYT1, LOC126861536 (A961G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458373	NM_015292.3(ESYT1):c.2908G>A (p.Gly970Arg)	ESYT1, LOC126861536 (G980R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477858	NM_015292.3(ESYT1):c.2936T>C (p.Leu979Pro)	ESYT1, LOC126861536 (L979P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090639	NM_015292.3(ESYT1):c.2944T>C (p.Tyr982His)	ESYT1, LOC126861536 (Y992H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592584	NM_015292.3(ESYT1):c.2996G>A (p.Arg999Gln)	ESYT1, LOC126861536 (R999Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594863	NM_015292.3(ESYT1):c.3004G>C (p.Gly1002Arg)	ESYT1, LOC126861536 (G1002R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610889	NM_015292.3(ESYT1):c.3013C>T (p.Pro1005Ser)	ESYT1, LOC126861536 (P1005S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345655	NM_015292.3(ESYT1):c.3059G>A (p.Arg1020Gln)	ESYT1, LOC126861536 (R1030Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311673	NM_015292.3(ESYT1):c.3089A>C (p.Lys1030Thr)	ESYT1, LOC126861536 (K1030T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276537	NM_015292.3(ESYT1):c.3207G>C (p.Glu1069Asp)	ESYT1, LOC126861536 (E1069D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410602	NM_015292.3(ESYT1):c.3209G>A (p.Arg1070His)	ESYT1, LOC126861536 (R1080H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206089	NM_015292.3(ESYT1):c.3244G>C (p.Glu1082Gln)	ESYT1, LOC126861536 (E1092Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090641	NM_015292.3(ESYT1):c.3265G>A (p.Val1089Ile)	ESYT1, LOC126861536 (V1099I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527711	GRCh37/hg19 12q13.2-13.3(chr12:56333262-57010442)	ANKRD52, APOF +30 more	Copy number gain	not specified	GUncertain significance
Select item 1527710	GRCh37/hg19 12q13.2(chr12:55975308-56593032)	BLOC1S1, CD63 +25 more	Copy number gain	not specified	GUncertain significance
Select item 980439	GRCh37/hg19 12q13.2(chr12:56333246-56558418)x3	CDK2, DGKA +13 more	Copy number gain	not provided	GUncertain significance
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 100