RTN3[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic
Select item 2318261	NM_001265589.2(RTN3):c.5C>T (p.Ala2Val)	RTN3 (A2V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 777228	NM_001265589.2(RTN3):c.30C>T (p.Ser10=)	RTN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2349268	NM_001265589.2(RTN3):c.44C>T (p.Ser15Leu)	LOC130005888, RTN3 (S15L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532949	NM_001265589.2(RTN3):c.64C>T (p.Pro22Ser)	LOC130005888, RTN3 (P22S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 718662	NM_001265589.2(RTN3):c.177A>C (p.Val59=)	RTN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2265333	NM_001265589.2(RTN3):c.418G>A (p.Val140Ile)	RTN3 (V121I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2534308	NM_001265589.2(RTN3):c.463C>T (p.Arg155Cys)	RTN3 (R136C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274177	NM_001265589.2(RTN3):c.677A>T (p.Tyr226Phe)	RTN3 (Y226F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325306	NM_001265589.2(RTN3):c.844G>A (p.Glu282Lys)	RTN3 (E263K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612194	NM_001265589.2(RTN3):c.863C>T (p.Ser288Leu)	RTN3 (S176L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2358199	NM_001265589.2(RTN3):c.892A>G (p.Arg298Gly)	RTN3 (R186G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337316	NM_001265589.2(RTN3):c.919A>G (p.Met307Val)	RTN3 (M288V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541110	NM_001265589.2(RTN3):c.952A>G (p.Thr318Ala)	RTN3 (T206A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2641901	NM_001265589.2(RTN3):c.1011C>T (p.Asn337=)	RTN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2315484	NM_001265589.2(RTN3):c.1148C>T (p.Thr383Ile)	RTN3 (T271I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386688	NM_001265589.2(RTN3):c.1261G>C (p.Val421Leu)	RTN3 (V309L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2312858	NM_001265589.2(RTN3):c.1277A>T (p.Asn426Ile)	RTN3 (N314I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298664	NM_001265589.2(RTN3):c.1282A>G (p.Thr428Ala)	RTN3 (T428A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213101	NM_001265589.2(RTN3):c.1285A>G (p.Lys429Glu)	RTN3 (K410E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336027	NM_001265589.2(RTN3):c.1302A>C (p.Lys434Asn)	RTN3 (K322N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382208	NM_001265589.2(RTN3):c.1343C>G (p.Ala448Gly)	RTN3 (A336G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327055	NM_001265589.2(RTN3):c.1373G>A (p.Cys458Tyr)	RTN3 (C346Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518288	NM_001265589.2(RTN3):c.1408G>A (p.Val470Met)	RTN3 (V451M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526561	NM_001265589.2(RTN3):c.1604G>A (p.Gly535Asp)	RTN3 (G423D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2589556	NM_001265589.2(RTN3):c.1675G>T (p.Val559Phe)	RTN3 (V447F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2564340	NM_001265589.2(RTN3):c.1675G>A (p.Val559Ile)	RTN3 (V447I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205918	NM_001265589.2(RTN3):c.1694A>C (p.His565Pro)	RTN3 (H546P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610106	NM_001265589.2(RTN3):c.1736A>C (p.Glu579Ala)	RTN3 (E560A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227488	NM_001265589.2(RTN3):c.1759G>T (p.Asp587Tyr)	RTN3 (D568Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 713990	NM_001265589.2(RTN3):c.1808C>T (p.Pro603Leu)	RTN3 (P491L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2307194	NM_001265589.2(RTN3):c.1843G>T (p.Val615Leu)	RTN3 (V503L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304676	NM_001265589.2(RTN3):c.1864G>A (p.Glu622Lys)	RTN3 (E603K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493963	NM_001265589.2(RTN3):c.1885G>C (p.Val629Leu)	RTN3 (V517L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463890	NM_001265589.2(RTN3):c.1888A>G (p.Thr630Ala)	RTN3 (T630A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297458	NM_001265589.2(RTN3):c.1915C>T (p.His639Tyr)	RTN3 (H527Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2454808	NM_001265589.2(RTN3):c.1936A>G (p.Ile646Val)	RTN3 (I627V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477074	NM_001265589.2(RTN3):c.1937T>C (p.Ile646Thr)	RTN3 (I646T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210398	NM_001265589.2(RTN3):c.1993G>A (p.Gly665Arg)	RTN3 (G665R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321395	NM_001265589.2(RTN3):c.2057C>T (p.Thr686Ile)	RTN3 (T667I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203883	NM_001265589.2(RTN3):c.2099G>T (p.Gly700Val)	RTN3 (G700V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284887	NM_001265589.2(RTN3):c.2210A>T (p.Asp737Val)	RTN3 (D625V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550945	NM_001265589.2(RTN3):c.2291G>A (p.Arg764His)	RTN3 (R652H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2385824	NM_001265589.2(RTN3):c.2377C>G (p.Leu793Val)	RTN3 (L681V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544573	NM_001265589.2(RTN3):c.2405A>T (p.Asp802Val)	RTN3 (D690V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484187	NM_001265589.2(RTN3):c.2483A>C (p.Glu828Ala)	RTN3 (E809A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329169	NM_001265589.2(RTN3):c.2539C>G (p.Leu847Val)	RTN3 (L51V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398351	NM_001265589.2(RTN3):c.2741C>G (p.Ala914Gly)	RTN3 (A802G +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285410	NM_001265589.2(RTN3):c.2751C>A (p.Asp917Glu)	RTN3 (D917E +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263612	NM_001265589.2(RTN3):c.2845T>C (p.Phe949Leu)	RTN3 (F153L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228425	NM_001265589.2(RTN3):c.2847T>G (p.Phe949Leu)	RTN3 (F153L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	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 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	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

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Items: 59