ClinVar for MedGen (Select 338620) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	Charlevoix-Saguenay spastic ataxia +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 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
Select item 2678572	NM_014363.6(SACS):c.4424C>A (p.Ser1475Ter)	SACS (S1328* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678571	NM_014363.6(SACS):c.3130C>T (p.Gln1044Ter)	SACS (Q1044* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 2678569	NM_014363.6(SACS):c.388A>T (p.Lys130Ter)	SACS (K130*)	Single nucleotide variant (5 prime UTR variant +1 more)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678568	NM_014363.6(SACS):c.12529dup (p.Tyr4177fs)	SACS (Y4030fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 2678567	NM_014363.6(SACS):c.9663_9664del (p.Leu3222fs)	SACS (L3075fs +1 more)	Microsatellite (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678566	NM_014363.6(SACS):c.11361dup (p.Arg3788fs)	SACS (R3641fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678565	NM_014363.6(SACS):c.8071A>T (p.Lys2691Ter)	SACS (K2544* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678564	NM_014363.6(SACS):c.257del (p.Gly86fs)	SACS (G86fs)	Deletion (frameshift variant +1 more)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678563	NM_014363.6(SACS):c.13433dup (p.Tyr4478Ter)	SACS (Y4331* +1 more)	Duplication (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678562	NM_014363.6(SACS):c.12523_12541del (p.Val4175fs)	SACS (V4028fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678561	NM_014363.6(SACS):c.4233_4236del (p.Leu1412fs)	SACS (L1265fs +1 more)	Microsatellite (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 2678560	NM_014363.6(SACS):c.9376del (p.Asn3125_Leu3126insTer)	SACS	Deletion (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678559	NM_014363.6(SACS):c.239C>G (p.Ser80Ter)	SACS (S80*)	Single nucleotide variant (nonsense +1 more)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678558	NM_014363.6(SACS):c.2620del (p.Ser874fs)	SACS (S727fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678557	NM_014363.6(SACS):c.10944_10947dup (p.Leu3650fs)	SACS (L3503fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678556	NM_014363.6(SACS):c.2189_2190delinsT (p.Arg730fs)	SACS (R583fs +1 more)	Indel (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678555	NM_014363.6(SACS):c.4954C>T (p.Gln1652Ter)	SACS (Q1505* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 2678554	NM_014363.6(SACS):c.1189dup (p.Ser397fs)	SACS (S250fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic
Select item 2678553	NM_014363.6(SACS):c.708del (p.Asp236fs)	SACS (D236fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678552	NM_014363.6(SACS):c.5402C>G (p.Ser1801Ter)	SACS (S1654* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678551	NM_014363.6(SACS):c.8807del (p.Gly2936fs)	SACS (G2789fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 2678549	NM_014363.6(SACS):c.4811G>A (p.Trp1604Ter)	SACS (W1457* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678548	NM_014363.6(SACS):c.12378C>A (p.Cys4126Ter)	SACS (C3979* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678547	NM_014363.6(SACS):c.12373G>T (p.Gly4125Ter)	SACS (G3978* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678546	NM_014363.6(SACS):c.11946del (p.Asp3983fs)	SACS (D3836fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678545	NM_014363.6(SACS):c.9106C>T (p.Gln3036Ter)	SACS (Q2889* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 2678544	NM_014363.6(SACS):c.10536_10537del (p.Glu3512fs)	SACS (E3365fs +1 more)	Microsatellite (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678543	NM_014363.6(SACS):c.2396_2399dup (p.Met800fs)	SACS (M653fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678542	NM_014363.6(SACS):c.6045_6049del (p.Tyr2015_Lys2017delinsTer)	SACS	Deletion (nonsense)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 2678541	NM_014363.6(SACS):c.3218dup (p.Pro1075fs)	SACS (P1075fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678540	NM_014363.6(SACS):c.12770_12917del (p.Ser4257fs)	SACS (S4110fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678538	NM_014363.6(SACS):c.5195del (p.Val1731_Leu1732insTer)	SACS	Deletion (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678537	NM_014363.6(SACS):c.8374_8375del (p.Arg2792fs)	SACS (R2645fs +1 more)	Microsatellite (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678536	NM_014363.6(SACS):c.9119del (p.Asn3040fs)	SACS (N2893fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678535	NM_014363.6(SACS):c.604+1_604+4del	SACS	Deletion (splice donor variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678534	NM_014363.6(SACS):c.11286_11287del (p.Asp3762fs)	SACS (D3615fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678533	NM_014363.6(SACS):c.13319C>A (p.Ser4440Ter)	SACS (S4293* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 2678532	NM_014363.6(SACS):c.12795_12798del (p.Thr4266fs)	SACS (T4119fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678531	NM_014363.6(SACS):c.8239dup (p.Ile2747fs)	SACS (I2600fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 2678530	NM_014363.6(SACS):c.11601_11604del (p.Lys3867fs)	SACS (K3720fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GPathogenic

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