SESN3[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	CHORDC1, GDPD4 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	LINC02553, LINC02700 +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	AASDHPPT, ACAT1 +387 more	Copy number loss	See cases	GPathogenic
Select item 145480	GRCh38/hg38 11q21(chr11:94324282-96081666)x3	AMOTL1, ANKRD49 +57 more	Copy number gain	See cases	GUncertain significance
Select item 2350786	NM_144665.4(SESN3):c.1454G>A (p.Arg485His)	SESN3 (R346H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 711066	NM_144665.4(SESN3):c.1197C>T (p.Thr399=)	SESN3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2237447	NM_144665.4(SESN3):c.971T>C (p.Val324Ala)	SESN3 (V185A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329925	NM_144665.4(SESN3):c.962C>T (p.Thr321Ile)	SESN3 (T182I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2567764	NM_144665.4(SESN3):c.865C>T (p.Arg289Cys)	SESN3 (R289C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285904	NM_144665.4(SESN3):c.732G>C (p.Glu244Asp)	SESN3 (E105D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376658	NM_144665.4(SESN3):c.661T>G (p.Ser221Ala)	SESN3 (S221A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306348	NM_144665.4(SESN3):c.494G>A (p.Arg165Gln)	SESN3 (R165Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213974	NM_144665.4(SESN3):c.437A>G (p.Glu146Gly)	SESN3 (E146G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621141	NM_144665.4(SESN3):c.384T>A (p.His128Gln)	SESN3 (H128Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558393	NM_144665.4(SESN3):c.166G>A (p.Asp56Asn)	SESN3 (D56N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 594353	NM_144665.4(SESN3):c.161C>G (p.Thr54Arg)	SESN3 (T54R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 787096	NM_144665.4(SESN3):c.145-10T>G	SESN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2358261	NM_144665.4(SESN3):c.110C>A (p.Thr37Lys)	SESN3 (T37K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550205	NM_144665.4(SESN3):c.80A>G (p.Asp27Gly)	SESN3 (D27G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605225	NM_144665.4(SESN3):c.10G>A (p.Gly4Ser)	LOC100129203, LOC130006613 +1 more (G4S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063185	GRCh37/hg19 11q21(chr11:94818214-94950301)x1	ENDOD1, SESN3	Copy number loss	not specified	GUncertain significance
Select item 2685419	GRCh37/hg19 11q21(chr11:94818215-94926624)x1	ENDOD1, SESN3	Copy number loss	not provided	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1708198	GRCh37/hg19 11q21(chr11:94693565-95725474)x3	CEP57, CWC15 +8 more	Copy number gain	See cases	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527655	GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	AMOTL1, ANKRD42 +66 more	Copy number loss	not specified	GPathogenic
Select item 1527654	GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	AMOTL1, ANKRD42 +72 more	Copy number loss	not specified	GPathogenic
Select item 1341209	GRCh37/hg19 11q21(chr11:94681351-95176293)x1	CWC15, ENDOD1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	PIH1D2, PIWIL4 +95 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +96 more	Copy number loss	See cases	GPathogenic
Select item 221480	GRCh37/hg19 11q21(chr11:94696615-95528715)x3	CEP57, CWC15 +6 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 37