ClinVar for MedGen (Select 338620) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359136	NM_014363.6(SACS):c.2775A>G (p.Ala925=)	SACS	Single nucleotide variant (synonymous variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 3341481	NM_014363.6(SACS):c.4605del (p.Phe1535fs)	SACS (F1388fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3255614	NM_014363.6(SACS):c.13658C>T (p.Thr4553Ile)	SACS (T4406I +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240423	NM_014363.6(SACS):c.4847del (p.Asn1616fs)	SACS (N1469fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240422	NM_014363.6(SACS):c.7366del (p.Thr2456fs)	SACS (T2309fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240421	NM_014363.6(SACS):c.10222_10223del (p.Lys3408fs)	SACS (K3261fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240420	NM_014363.6(SACS):c.34_38del (p.Thr12fs)	LOC130009366, SACS (T12fs)	Deletion (5 prime UTR variant +1 more)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240419	NM_014363.6(SACS):c.9148del (p.Thr3050fs)	SACS (T2903fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240418	NM_014363.6(SACS):c.12890del (p.Lys4297fs)	SACS (K4150fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240417	NM_014363.6(SACS):c.457+1del	SACS	Deletion (splice donor variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240416	NM_014363.6(SACS):c.1415_1421del (p.Asp472fs)	SACS (D325fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240415	NM_014363.6(SACS):c.7968del (p.Ala2658fs)	SACS (A2511fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240414	NM_014363.6(SACS):c.13354dup (p.Arg4452fs)	SACS (R4305fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240413	NM_014363.6(SACS):c.3094del (p.Glu1032fs)	SACS (E1032fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240412	NM_014363.6(SACS):c.7317_7321del (p.Lys2440fs)	SACS (K2293fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240411	NM_014363.6(SACS):c.12454G>T (p.Glu4152Ter)	SACS (E4005* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240410	NM_014363.6(SACS):c.10069_10070del (p.Ser3357fs)	SACS (S3210fs +1 more)	Microsatellite (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240409	NM_014363.6(SACS):c.6366del (p.Lys2122fs)	SACS (K1975fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240408	NM_014363.6(SACS):c.1535C>G (p.Ser512Ter)	SACS (S365* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240407	NM_014363.6(SACS):c.1379_1395delinsG (p.Leu460fs)	SACS (L313fs +1 more)	Indel (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240406	NM_014363.6(SACS):c.10574delinsAATA (p.Leu3525Ter)	SACS (L3378* +1 more)	Indel (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240404	NM_014363.6(SACS):c.9611_9615del (p.Lys3204fs)	SACS (K3057fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240403	NM_014363.6(SACS):c.499G>T (p.Glu167Ter)	SACS (E167* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240402	NM_014363.6(SACS):c.7962T>A (p.Tyr2654Ter)	SACS (Y2507* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240401	NM_014363.6(SACS):c.442_443del (p.Met148fs)	SACS (M148fs +1 more)	Microsatellite (frameshift variant +1 more)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240400	NM_014363.6(SACS):c.12177del (p.Gly4061fs)	SACS (G3914fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240399	NM_014363.6(SACS):c.8917_8918del (p.Asp2973fs)	SACS (D2826fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240398	NM_014363.6(SACS):c.11428G>T (p.Glu3810Ter)	SACS (E3663* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240397	NM_014363.6(SACS):c.7820_7821del (p.Leu2607fs)	SACS (L2460fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240396	NM_014363.6(SACS):c.10916del (p.Leu3639fs)	SACS (L3492fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240395	NM_014363.6(SACS):c.13543C>T (p.Gln4515Ter)	SACS (Q4368* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240394	NM_014363.6(SACS):c.9144del (p.Thr3050fs)	SACS (T2903fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 3239695	NM_014363.6(SACS):c.13622dup (p.Leu4541fs)	SACS (L4394fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3239694	NM_014363.6(SACS):c.9590del (p.Ser3197fs)	SACS (S3050fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3239693	NM_014363.6(SACS):c.5627T>A (p.Leu1876Ter)	SACS (L1729* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3236330	NM_014363.6(SACS):c.9075del (p.Phe3027fs)	SACS (F2880fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3236329	NM_014363.6(SACS):c.4108C>T (p.Gln1370Ter)	SACS (Q1223* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 3236326	NM_014363.6(SACS):c.12416T>C (p.Leu4139Ser)	SACS (L3992S +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 3236325	NM_014363.6(SACS):c.5468dup (p.Cys1823fs)	SACS (C1676fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3236322	NM_014363.6(SACS):c.9086del (p.Asn3029fs)	SACS (N2882fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3236313	NM_014363.6(SACS):c.4060C>T (p.Gln1354Ter)	SACS (Q1207* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 3236311	NM_014363.6(SACS):c.8921_8922insTTTA (p.Leu2974fs)	SACS (L2827fs +1 more)	Insertion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3236310	NM_014363.6(SACS):c.7277G>C (p.Arg2426Pro)	SACS (R2279P +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 3236309	NM_014363.6(SACS):c.4569G>A (p.Trp1523Ter)	SACS (W1376* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3236308	NM_014363.6(SACS):c.563G>A (p.Gly188Glu)	SACS (G188E +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3236307	NM_014363.6(SACS):c.3679delinsTA (p.His1227Ter)	SACS (H1080* +1 more)	Indel (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3236306	NM_014363.6(SACS):c.12637_12638del (p.Glu4213fs)	SACS (E4066fs +1 more)	Microsatellite (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3236305	Single allele	LOC130009365, LOC130009366 +4 more	Deletion	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 3236304	NM_014363.6(SACS):c.6634_6638del (p.Thr2212fs)	SACS (T2065fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3236303	NM_014363.6(SACS):c.7489G>A (p.Gly2497Arg)	SACS (G2350R +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 3236301	NM_014363.6(SACS):c.4076T>G (p.Met1359Arg)	SACS (M1212R +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 3236300	NM_014363.6(SACS):c.2354dup (p.Asn785fs)	SACS (N638fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3236298	NM_014363.6(SACS):c.5346dup (p.Arg1783Ter)	SACS (R1636* +1 more)	Duplication (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3236297	NM_014363.6(SACS):c.4145dup (p.His1382fs)	SACS (H1235fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3236296	NM_014363.6(SACS):c.4192T>C (p.Cys1398Arg)	SACS (C1251R +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 3236295	NM_014363.6(SACS):c.701_702del (p.Lys234fs)	SACS (K234fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3236291	NM_014363.6(SACS):c.13056del (p.Phe4352fs)	SACS (F4205fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3236290	NM_014363.6(SACS):c.9197del (p.Gly3066fs)	SACS (G2919fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3236285	NM_014363.6(SACS):c.13388dup (p.Asn4463fs)	SACS (N4316fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3236284	NM_014363.6(SACS):c.12630_12634del (p.Glu4211fs)	SACS (E4064fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3236282	NM_014363.6(SACS):c.6554GTA[1] (p.Ser2186del)	SACS (S2039del +1 more)	Microsatellite (inframe_deletion)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 3236281	NM_014363.6(SACS):c.10913A>G (p.Asp3638Gly)	SACS (D3491G +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 3236280	NM_014363.6(SACS):c.11339T>C (p.Leu3780Pro)	SACS (L3633P +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3236277	NM_014363.6(SACS):c.10651dup (p.Met3551fs)	SACS (M3404fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3236276	NM_014363.6(SACS):c.6999dup (p.Lys2334Ter)	SACS (K2187* +1 more)	Duplication (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3236275	NM_014363.6(SACS):c.13304del (p.Pro4435fs)	SACS (P4288fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3236274	NM_014363.6(SACS):c.7900G>A (p.Asp2634Asn)	SACS (D2487N +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 3236273	NM_014363.6(SACS):c.2850dup (p.His951fs)	SACS (H804fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3236272	NM_014363.6(SACS):c.9305dup (p.Leu3102fs)	SACS (L2955fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3236271	NM_014363.6(SACS):c.2167_2170del (p.Glu723fs)	SACS (E576fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3236270	Single allele	LOC130009365, LOC130009366 +5 more	Deletion	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 3236269	NM_014363.6(SACS):c.637G>A (p.Gly213Arg)	SACS (G213R +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 3068645	NM_014363.6(SACS):c.260G>A (p.Gly87Asp)	SACS (G87D)	Single nucleotide variant (5 prime UTR variant +1 more)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 3068639	NM_014363.6(SACS):c.3782A>G (p.Asp1261Gly)	SACS (D1114G +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 3068576	NM_014363.6(SACS):c.13561_13562del (p.Thr4520_Asn4521insTer)	SACS	Deletion (nonsense)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 3068526	NM_014363.6(SACS):c.2229del (p.Phe743fs)	SACS (F596fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3067980	NM_014363.6(SACS):c.2508del (p.Pro837fs)	SACS (P690fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 3065574	NM_014363.6(SACS):c.7665T>G (p.Asp2555Glu)	SACS (D2408E +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 2980688	NM_014363.6(SACS):c.6538dup (p.Ala2180fs)	SACS (A2033fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 2954690	NM_014363.6(SACS):c.6894_6897del (p.Lys2298_Glu2299insTer)	SACS	Deletion (frameshift variant)	Spastic paraplegia +1 more	GPathogenic
Select item 2712286	NM_014363.6(SACS):c.466_469del (p.Leu156fs)	SACS (L156fs +1 more)	Microsatellite (frameshift variant)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 2694696	NM_014363.6(SACS):c.4744G>C (p.Asp1582His)	SACS (D1582H +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GLikely pathogenic
Select item 2678591	NM_014363.6(SACS):c.2630T>A (p.Leu877Ter)	SACS (L730* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678590	NM_014363.6(SACS):c.1965_1966del (p.Leu655_Ser656insTer)	SACS	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678589	NM_014363.6(SACS):c.12147C>A (p.Cys4049Ter)	SACS (C3902* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678588	NM_014363.6(SACS):c.11406_11409del (p.Trp3803fs)	SACS (W3656fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678587	NM_014363.6(SACS):c.12860del (p.Lys4287fs)	SACS (K4140fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678586	NM_014363.6(SACS):c.4716del (p.Ile1572_Met1573insTer)	SACS	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678585	NM_014363.6(SACS):c.7499dup (p.Arg2502fs)	SACS (R2355fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678584	NM_014363.6(SACS):c.9851del (p.Thr3284fs)	SACS (T3137fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678583	NM_014363.6(SACS):c.4762_4763del (p.Ile1588fs)	SACS (I1441fs +1 more)	Microsatellite (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678582	NM_014363.6(SACS):c.9580_9587delinsC (p.Lys3195fs)	SACS (K3048fs +1 more)	Indel (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678580	NM_014363.6(SACS):c.8070del (p.Phe2690fs)	SACS (F2543fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678579	NM_014363.6(SACS):c.9762del (p.Ser3254_Val3255insTer)	SACS	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678578	NM_014363.6(SACS):c.3946C>T (p.Gln1316Ter)	SACS (Q1169* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678577	NM_014363.6(SACS):c.3684dup (p.Lys1229Ter)	SACS (K1082* +1 more)	Duplication (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678576	NM_014363.6(SACS):c.2176C>T (p.Gln726Ter)	SACS (Q579* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678575	NM_014363.6(SACS):c.896_898delinsCT (p.Phe299fs)	SACS (F152fs +1 more)	Indel (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678574	NM_014363.6(SACS):c.4783_4787del (p.Lys1595fs)	SACS (K1448fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678573	NM_014363.6(SACS):c.8148del (p.Pro2717fs)	SACS (P2570fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic

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