SESN2[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 148510	GRCh38/hg38 1p35.3(chr1:27919199-28607226)x3	ATP5IF1, DNAJC8 +51 more	Copy number gain	See cases	GUncertain significance
Select item 2307480	NM_031459.5(SESN2):c.7G>T (p.Val3Leu)	SESN2 (V3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244483	NM_031459.5(SESN2):c.29C>T (p.Ala10Val)	SESN2 (A10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160550	NM_031459.5(SESN2):c.38A>C (p.Lys13Thr)	SESN2 (K13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511108	NM_031459.5(SESN2):c.61G>T (p.Gly21Cys)	SESN2 (G21C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357311	NM_031459.5(SESN2):c.76T>C (p.Ser26Pro)	SESN2 (S26P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2291260	NM_031459.5(SESN2):c.76T>A (p.Ser26Thr)	SESN2 (S26T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721173	NM_031459.5(SESN2):c.106C>T (p.Arg36Trp)	SESN2 (R36W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2359426	NM_031459.5(SESN2):c.112C>G (p.Arg38Gly)	SESN2 (R38G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160544	NM_031459.5(SESN2):c.113G>A (p.Arg38Gln)	SESN2 (R38Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160548	NM_031459.5(SESN2):c.128G>A (p.Gly43Glu)	SESN2 (G43E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782370	NM_031459.5(SESN2):c.201G>A (p.Leu67=)	SESN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2527854	NM_031459.5(SESN2):c.215C>T (p.Ser72Phe)	SESN2 (S72F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721204	NM_031459.5(SESN2):c.259C>T (p.Pro87Ser)	SESN2 (P87S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2455570	NM_031459.5(SESN2):c.284G>A (p.Arg95His)	SESN2 (R95H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367792	NM_031459.5(SESN2):c.284G>C (p.Arg95Pro)	SESN2 (R95P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599203	NM_031459.5(SESN2):c.365G>A (p.Arg122His)	SESN2 (R122H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638579	NM_031459.5(SESN2):c.468G>A (p.Leu156=)	SESN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2271717	NM_031459.5(SESN2):c.481G>A (p.Glu161Lys)	SESN2 (E161K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386042	NM_031459.5(SESN2):c.554G>C (p.Gly185Ala)	SESN2 (G185A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160551	NM_031459.5(SESN2):c.680C>T (p.Ala227Val)	SESN2 (A227V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316589	NM_031459.5(SESN2):c.745T>G (p.Ser249Ala)	SESN2 (S249A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353732	NM_031459.5(SESN2):c.779C>T (p.Ala260Val)	SESN2 (A260V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720740	NM_031459.5(SESN2):c.780G>A (p.Ala260=)	SESN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2476680	NM_031459.5(SESN2):c.791G>A (p.Arg264His)	SESN2 (R264H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394081	NM_031459.5(SESN2):c.820C>T (p.Arg274Trp)	SESN2 (R274W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481053	NM_031459.5(SESN2):c.827A>C (p.Glu276Ala)	SESN2 (E276A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711836	NM_031459.5(SESN2):c.834G>A (p.Thr278=)	SESN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 791785	NM_031459.5(SESN2):c.843G>A (p.Glu281=)	SESN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 730387	NM_031459.5(SESN2):c.901+5A>G	SESN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 736029	NM_031459.5(SESN2):c.901+8G>A	SESN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 780227	NM_031459.5(SESN2):c.925C>T (p.His309Tyr)	SESN2 (H309Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3160552	NM_031459.5(SESN2):c.943T>C (p.Phe315Leu)	SESN2 (F315L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718968	NM_031459.5(SESN2):c.958A>G (p.Thr320Ala)	SESN2 (T320A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2333042	NM_031459.5(SESN2):c.964G>A (p.Gly322Arg)	SESN2 (G322R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160553	NM_031459.5(SESN2):c.995A>G (p.Gln332Arg)	SESN2 (Q332R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160554	NM_031459.5(SESN2):c.997G>C (p.Ala333Pro)	SESN2 (A333P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221923	NM_031459.5(SESN2):c.1013G>A (p.Arg338Gln)	SESN2 (R338Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311825	NM_031459.5(SESN2):c.1021G>A (p.Asp341Asn)	SESN2 (D341N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791786	NM_031459.5(SESN2):c.1092T>C (p.Asp364=)	SESN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3160545	NM_031459.5(SESN2):c.1144A>C (p.Ser382Arg)	SESN2 (S382R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160546	NM_031459.5(SESN2):c.1148G>C (p.Gly383Ala)	SESN2 (G383A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160547	NM_031459.5(SESN2):c.1174G>T (p.Ala392Ser)	SESN2 (A392S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344835	NM_031459.5(SESN2):c.1198G>A (p.Val400Ile)	SESN2 (V400I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308848	NM_031459.5(SESN2):c.1322A>G (p.Asn441Ser)	SESN2 (N441S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207745	NM_031459.5(SESN2):c.1342C>T (p.Arg448Cys)	SESN2 (R448C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362953	NM_031459.5(SESN2):c.1343G>A (p.Arg448His)	SESN2 (R448H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216974	NM_031459.5(SESN2):c.1385C>T (p.Ala462Val)	SESN2 (A462V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367286	NM_031459.5(SESN2):c.1435A>G (p.Met479Val)	SESN2 (M479V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 1340314	GRCh37/hg19 1p35.3(chr1:28493687-29242679)x1	ATP5IF1, DNAJC8 +14 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565083	GRCh37/hg19 1p35.3(chr1:28517625-28633254)x1	PTAFR, ATP5IF1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 253760	GRCh37/hg19 1p35.3(chr1:28292253-28969539)x3	RCC1, EYA3 +12 more	Copy number gain	See cases	GUncertain significance

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Items: 59