ClinVar for MedGen (Select 338620) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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
Select item 2678529	NM_014363.6(SACS):c.351_354del (p.Leu117fs)	SACS (L117fs)	Microsatellite (5 prime UTR variant +1 more)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678528	NM_014363.6(SACS):c.1894C>T (p.Arg632Trp)	SACS (R485W +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +1 more	GConflicting classifications of pathogenicity
Select item 2678527	NM_014363.6(SACS):c.3557del (p.Met1186fs)	SACS (M1039fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678526	NM_014363.6(SACS):c.9660dup (p.Val3221fs)	SACS (V3074fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678525	NM_014363.6(SACS):c.12471dup (p.Thr4158fs)	SACS (T4011fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678524	NM_014363.6(SACS):c.10055_10056del (p.Thr3352fs)	SACS (T3205fs +1 more)	Microsatellite (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678523	NM_014363.6(SACS):c.654del (p.Gln219fs)	SACS (Q219fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678522	NM_014363.6(SACS):c.2291G>A (p.Trp764Ter)	SACS (W617* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678520	NM_014363.6(SACS):c.171+1G>A	LOC130009366, SACS	Single nucleotide variant (splice donor variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678519	NM_014363.6(SACS):c.5809dup (p.Leu1937fs)	SACS (L1790fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678518	NM_014363.6(SACS):c.13112dup (p.Asn4371fs)	SACS (N4224fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678517	NM_014363.6(SACS):c.4438G>T (p.Glu1480Ter)	SACS (E1333* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678516	NM_014363.6(SACS):c.11191del (p.Glu3731fs)	SACS (E3584fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678515	NM_014363.6(SACS):c.1229T>A (p.Leu410Ter)	SACS (L263* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 2678513	NM_014363.6(SACS):c.4760A>G (p.His1587Arg)	SACS (H1440R +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678512	NM_014363.6(SACS):c.11302del (p.Thr3768fs)	SACS (T3621fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678511	NM_014363.6(SACS):c.155G>A (p.Trp52Ter)	LOC130009366, SACS (W52*)	Single nucleotide variant (5 prime UTR variant +1 more)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678510	NM_014363.6(SACS):c.7255_7259del (p.Glu2419fs)	SACS (E2272fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 2678509	NM_014363.6(SACS):c.1162C>T (p.Gln388Ter)	SACS (Q241* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678508	NM_014363.6(SACS):c.5405_5408del (p.Lys1802fs)	SACS (K1655fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 2678507	NM_014363.6(SACS):c.12707_12708del (p.Ile4236fs)	SACS (I4089fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678506	NM_014363.6(SACS):c.8404_8407del (p.Ile2802fs)	SACS (I2655fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678505	NM_014363.6(SACS):c.4884del (p.Gln1628fs)	SACS (Q1481fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678504	NM_014363.6(SACS):c.2503C>T (p.Gln835Ter)	SACS (Q688* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678503	NM_014363.6(SACS):c.5515A>T (p.Arg1839Ter)	SACS (R1692* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678502	NM_014363.6(SACS):c.172-2A>G	SACS	Single nucleotide variant (splice acceptor variant +1 more)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678501	NM_014363.6(SACS):c.10645G>T (p.Glu3549Ter)	SACS (E3402* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678500	NM_014363.6(SACS):c.9833G>A (p.Trp3278Ter)	SACS (W3131* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2678499	NM_014363.6(SACS):c.4521_4522del (p.Asn1508fs)	SACS (N1361fs +1 more)	Microsatellite (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2627400	NM_014363.6(SACS):c.8765_8766del (p.Tyr2922fs)	SACS (Y2775fs +1 more)	Microsatellite (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2585302	NM_014363.6(SACS):c.2926_2927insAT (p.Arg976fs)	SACS (R829fs +1 more)	Insertion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 2584739	NM_014363.6(SACS):c.13017C>A (p.Asp4339Glu)	SACS (D4192E +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 2584738	NM_014363.6(SACS):c.9272_9275del (p.Ser3091fs)	SACS (S2944fs +1 more)	Microsatellite (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 2580174	NM_014363.6(SACS):c.7106C>T (p.Pro2369Leu)	SACS (P2222L +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 2577100	NM_014363.6(SACS):c.9311del (p.Thr3104fs)	SACS (T2957fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 2572744	NM_014363.6(SACS):c.826C>T (p.Arg276Cys)	SACS (R129C +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +2 more	GPathogenic/Likely pathogenic

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