ClinVar for Gene (Select 6253) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363773	NM_005619.5(RTN2):c.1258G>A (p.Asp420Asn)	RTN2 (D347N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3355039	NM_005619.5(RTN2):c.180G>A (p.Arg60=)	RTN2	Single nucleotide variant (synonymous variant)	RTN2-related disorder	GLikely benign
Select item 3315699	NM_005619.5(RTN2):c.1487G>A (p.Arg496Gln)	RTN2 (R423Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3315698	NM_005619.5(RTN2):c.1081T>A (p.Phe361Ile)	RTN2 (F21I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255562	NM_005619.5(RTN2):c.1216dup (p.Arg406fs)	PPM1N, RTN2 (R333fs +2 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 3248643	NM_005619.5(RTN2):c.79G>T (p.Gly27Ter)	RTN2 (G27*)	Single nucleotide variant (nonsense)	Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity	GPathogenic
Select item 3248642	NM_005619.5(RTN2):c.701_702dup (p.Leu235fs)	RTN2 (L235fs)	Duplication (frameshift variant)	Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity	GPathogenic
Select item 3248641	NM_005619.5(RTN2):c.287del (p.Pro96fs)	RTN2 (P96fs)	Deletion (frameshift variant)	Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity	GPathogenic
Select item 3248640	NM_005619.5(RTN2):c.103C>T (p.Arg35Ter)	RTN2 (R35*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 12	GPathogenic
Select item 3233982	NM_005619.5(RTN2):c.1315G>A (p.Val439Met)	RTN2 (V366M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157013	NM_005619.5(RTN2):c.688G>A (p.Gly230Arg)	RTN2 (G230R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157012	NM_005619.5(RTN2):c.556G>A (p.Glu186Lys)	RTN2 (E186K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3157011	NM_005619.5(RTN2):c.530A>G (p.Asn177Ser)	RTN2 (N177S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157010	NM_005619.5(RTN2):c.250C>T (p.Arg84Cys)	RTN2 (R84C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069048	NM_005619.5(RTN2):c.1507G>A (p.Asp503Asn)	RTN2 (D163N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3017367	NM_005619.5(RTN2):c.1142C>T (p.Ala381Val)	RTN2 (A381V +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3007147	NM_005619.5(RTN2):c.1067C>T (p.Thr356Met)	RTN2 (T16M +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2995052	NM_005619.5(RTN2):c.1134C>T (p.Ser378=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2954876	NM_005619.5(RTN2):c.135G>A (p.Glu45=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2954579	NM_005619.5(RTN2):c.580C>T (p.Leu194Phe)	RTN2 (L194F)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2919437	NM_005619.5(RTN2):c.600C>G (p.Pro200=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2910930	NM_005619.5(RTN2):c.6G>A (p.Gly2=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2909980	NM_005619.5(RTN2):c.1018G>T (p.Asp340Tyr)	RTN2 (D340Y)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia	GUncertain significance
Select item 2884189	NM_005619.5(RTN2):c.1283C>T (p.Thr428Met)	RTN2 (T88M +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2877720	NM_005619.5(RTN2):c.35-4G>A	RTN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2852640	NM_005619.5(RTN2):c.1624G>T (p.Ala542Ser)	RTN2 (A469S +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2845428	NM_005619.5(RTN2):c.277G>A (p.Val93Ile)	RTN2 (V93I)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 2807055	NM_005619.5(RTN2):c.1341G>C (p.Arg447=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2801575	NM_005619.5(RTN2):c.84G>A (p.Gly28=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2795832	NM_005619.5(RTN2):c.560-17T>A	RTN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2793393	NM_005619.5(RTN2):c.797T>G (p.Val266Gly)	RTN2 (V266G)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2781423	NM_005619.5(RTN2):c.1053G>T (p.Trp351Cys)	RTN2 (W11C +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2771640	NM_005619.5(RTN2):c.554G>A (p.Gly185Glu)	RTN2 (G185E)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2768298	NM_005619.5(RTN2):c.1560C>G (p.Ile520Met)	RTN2 (I180M +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2765634	NM_005619.5(RTN2):c.987C>T (p.Ser329=)	RTN2	Single nucleotide variant (synonymous variant +2 more)	Spastic paraplegia	GLikely benign
Select item 2742070	NM_005619.5(RTN2):c.1251G>A (p.Leu417=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2726933	NM_005619.5(RTN2):c.134A>T (p.Glu45Val)	RTN2 (E45V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2722338	NM_005619.5(RTN2):c.1621AAAGCC[1] (p.541KA[1])	RTN2	Microsatellite (inframe_deletion)	Spastic paraplegia	GUncertain significance
Select item 2720374	NM_005619.5(RTN2):c.108G>A (p.Glu36=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2715916	NM_005619.5(RTN2):c.928C>T (p.Pro310Ser)	RTN2 (P310S)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2709300	NM_005619.5(RTN2):c.814+9C>T	RTN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2703962	NM_005619.5(RTN2):c.859T>A (p.Tyr287Asn)	RTN2 (Y287N)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2683507	NM_005619.5(RTN2):c.1185G>C (p.Arg395Ser)	RTN2 (R322S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683111	NM_005619.5(RTN2):c.1154del (p.Leu385fs)	RTN2 (L312fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2650114	NM_005619.5(RTN2):c.587A>G (p.Gln196Arg)	RTN2 (Q196R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2650113	NM_005619.5(RTN2):c.1284G>A (p.Thr428=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
Select item 2635755	NM_005619.5(RTN2):c.443G>T (p.Gly148Val)	RTN2 (G148V)	Single nucleotide variant (missense variant)	RTN2-related disorder	GUncertain significance
Select item 2628393	NM_005619.5(RTN2):c.1564G>T (p.Ala522Ser)	RTN2 (A182S +2 more)	Single nucleotide variant (missense variant)	RTN2-related disorder	GUncertain significance
Select item 2621667	NM_005619.5(RTN2):c.283G>A (p.Glu95Lys)	RTN2 (E95K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609410	NM_005619.5(RTN2):c.1073G>C (p.Gly358Ala)	RTN2 (G18A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2578831	NM_005619.5(RTN2):c.34+7A>G	RTN2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2574477	NM_005619.5(RTN2):c.646G>T (p.Ala216Ser)	RTN2 (A216S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2556980	NM_005619.5(RTN2):c.558A>T (p.Glu186Asp)	RTN2 (E186D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543501	NM_005619.5(RTN2):c.300C>A (p.His100Gln)	RTN2 (H100Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542629	NM_005619.5(RTN2):c.1118A>G (p.His373Arg)	RTN2 (H33R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535790	NM_005619.5(RTN2):c.1418C>G (p.Ala473Gly)	RTN2 (A473G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532859	NM_005619.5(RTN2):c.1180C>G (p.Leu394Val)	RTN2 (L321V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506660	NM_005619.5(RTN2):c.714G>C (p.Glu238Asp)	RTN2 (E238D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442171	NM_005619.5(RTN2):c.198C>A (p.Tyr66Ter)	RTN2 (Y66*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2435490	NM_005619.5(RTN2):c.1192C>G (p.Arg398Gly)	RTN2 (R325G +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 2435489	NM_005619.5(RTN2):c.847C>T (p.Leu283Phe)	RTN2 (L283F)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 2433038	NM_005619.5(RTN2):c.926del (p.Gly309fs)	RTN2 (G309fs)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 12	GLikely pathogenic
Select item 2338126	NM_005619.5(RTN2):c.1417G>A (p.Ala473Thr)	RTN2 (A400T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334573	NM_005619.5(RTN2):c.56C>T (p.Ser19Phe)	RTN2 (S19F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310046	NM_005619.5(RTN2):c.1453G>A (p.Val485Met)	RTN2 (V145M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309934	NM_005619.5(RTN2):c.1411G>T (p.Val471Leu)	RTN2 (V131L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267266	NM_005619.5(RTN2):c.1486C>T (p.Arg496Trp)	RTN2 (R423W +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2267032	NM_005619.5(RTN2):c.185T>C (p.Leu62Pro)	RTN2 (L62P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261092	NM_005619.5(RTN2):c.194C>T (p.Ser65Phe)	RTN2 (S65F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243520	NM_005619.5(RTN2):c.292G>C (p.Asp98His)	RTN2 (D98H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2201081	NM_005619.5(RTN2):c.1125C>T (p.Ser375=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2194658	NM_005619.5(RTN2):c.1167C>T (p.Cys389=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2193792	NM_005619.5(RTN2):c.1273C>T (p.Arg425Trp)	RTN2 (R352W +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 2185352	NM_005619.5(RTN2):c.1122T>C (p.Phe374=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2178818	NM_005619.5(RTN2):c.954G>A (p.Arg318=)	RTN2	Single nucleotide variant (synonymous variant +2 more)	Spastic paraplegia	GLikely benign
Select item 2174846	NM_005619.5(RTN2):c.1254T>A (p.Asp418Glu)	RTN2 (D418E +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2159978	NM_005619.5(RTN2):c.555G>A (p.Gly185=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2158190	NM_005619.5(RTN2):c.815-20A>G	RTN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2157833	NM_005619.5(RTN2):c.1033+4G>A	RTN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 2151604	NM_005619.5(RTN2):c.1230C>T (p.Ala410=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2151534	NM_005619.5(RTN2):c.1242G>A (p.Gln414=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2151462	NM_005619.5(RTN2):c.1141G>A (p.Ala381Thr)	RTN2 (A381T +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2149959	NM_005619.5(RTN2):c.840A>C (p.Thr280=)	RTN2	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2147448	NM_005619.5(RTN2):c.272G>A (p.Arg91His)	RTN2 (R91H)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2143057	NM_005619.5(RTN2):c.959T>C (p.Leu320Pro)	RTN2 (L320P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2140613	NM_005619.5(RTN2):c.1135G>A (p.Val379Met)	RTN2 (V306M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2138403	NM_005619.5(RTN2):c.1381-5C>T	RTN2	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 2138050	NM_005619.5(RTN2):c.1451-20C>T	RTN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2137374	NM_005619.5(RTN2):c.1034-13C>G	RTN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2135413	NM_005619.5(RTN2):c.1313G>A (p.Arg438His)	RTN2 (R98H +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2070628	NM_005619.5(RTN2):c.392C>T (p.Pro131Leu)	RTN2 (P131L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2069241	NM_005619.5(RTN2):c.1506C>T (p.Ile502=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2066850	NM_005619.5(RTN2):c.337C>T (p.Pro113Ser)	RTN2 (P113S)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2063421	NM_005619.5(RTN2):c.1213C>T (p.His405Tyr)	RTN2 (H332Y +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2058251	NM_005619.5(RTN2):c.1220G>A (p.Gly407Glu)	RTN2 (G407E +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2047472	NM_005619.5(RTN2):c.1493A>G (p.His498Arg)	RTN2 (H425R +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 2042645	NM_005619.5(RTN2):c.815G>A (p.Gly272Glu)	RTN2 (G272E)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2039828	NM_005619.5(RTN2):c.407C>T (p.Pro136Leu)	RTN2 (P136L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2019754	NM_005619.5(RTN2):c.754A>T (p.Arg252Trp)	RTN2 (R252W)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1998238	NM_005619.5(RTN2):c.564G>A (p.Leu188=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign

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