Related gene-specific medical variations for Gene (Select 26278) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2998771	NM_014363.6(SACS):c.171+13C>G	LOC130009366, SACS	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2989233	NM_014363.6(SACS):c.96_105dup (p.Glu36fs)	LOC130009366, SACS (E36fs)	Duplication (frameshift variant +1 more)	Spastic paraplegia	GPathogenic
Select item 2984793	NM_014363.6(SACS):c.39G>C (p.Val13=)	LOC130009366, SACS	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2963173	NM_014363.6(SACS):c.171+15G>C	LOC130009366, SACS	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2920251	NM_014363.6(SACS):c.21-6C>T	LOC130009366, SACS	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2890117	NM_014363.6(SACS):c.96C>T (p.Arg32=)	LOC130009366, SACS	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2885638	NM_014363.6(SACS):c.21-18T>C	LOC130009366, SACS	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2882782	NM_014363.6(SACS):c.21-11G>A	LOC130009366, SACS	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2873933	NM_014363.6(SACS):c.171+14G>A	LOC130009366, SACS	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2851525	NM_014363.6(SACS):c.53dup (p.Cys20fs)	SACS, LOC130009366 (C20fs)	Duplication (5 prime UTR variant +1 more)	Spastic paraplegia	GPathogenic
Select item 2846475	NM_014363.6(SACS):c.21-11G>C	LOC130009366, SACS	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2837062	NM_014363.6(SACS):c.171+18G>T	LOC130009366, SACS	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2822931	NM_014363.6(SACS):c.120G>C (p.Ala40=)	LOC130009366, SACS	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2810035	NM_014363.6(SACS):c.171+1_171+18del	LOC130009366, SACS	Deletion (splice donor variant)	Spastic paraplegia	GLikely pathogenic
Select item 2792126	NM_014363.6(SACS):c.84C>G (p.Ser28=)	LOC130009366, SACS	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2787887	NM_014363.6(SACS):c.81G>A (p.Ala27=)	LOC130009366, SACS	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2761875	NM_014363.6(SACS):c.44_45del (p.Pro15fs)	LOC130009366, SACS (P15fs)	Deletion (5 prime UTR variant +1 more)	Spastic paraplegia	GPathogenic
Select item 2753387	NM_014363.6(SACS):c.21-2A>G	LOC130009366, SACS	Single nucleotide variant (splice acceptor variant)	Spastic paraplegia	GLikely pathogenic
Select item 2750687	NM_014363.6(SACS):c.171+9dup	LOC130009366, SACS	Duplication (intron variant)	Spastic paraplegia	GLikely benign
Select item 2750471	NM_014363.6(SACS):c.171+12C>A	LOC130009366, SACS	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2733489	NM_014363.6(SACS):c.36C>G (p.Thr12=)	LOC130009366, SACS	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2729351	NM_014363.6(SACS):c.125C>T (p.Thr42Ile)	LOC130009366, SACS (T42I)	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2728088	NM_014363.6(SACS):c.21-15C>T	LOC130009366, SACS	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2726669	NM_014363.6(SACS):c.84C>T (p.Ser28=)	LOC130009366, SACS	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2726258	NM_014363.6(SACS):c.21-17C>T	SACS, LOC130009366	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2719022	NM_014363.6(SACS):c.21-13C>T	LOC130009366, SACS	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2699358	NM_014363.6(SACS):c.171+7G>A	LOC130009366, SACS	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2687856	NM_014363.6(SACS):c.4491_4494del (p.Ile1497_Asp1498insTer)	SACS	Microsatellite (frameshift variant)	not specified	GUncertain significance
Select item 2684334	NM_014363.6(SACS):c.8426A>C (p.Glu2809Ala)	SACS (E2662A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684332	NM_014363.6(SACS):c.7831A>G (p.Thr2611Ala)	SACS (T2464A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684331	NM_014363.6(SACS):c.7116del (p.Gln2373fs)	SACS (Q2226fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2684329	NM_014363.6(SACS):c.5341C>T (p.Leu1781Phe)	SACS (L1634F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684328	NM_014363.6(SACS):c.4496T>C (p.Met1499Thr)	SACS (M1352T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684327	NM_014363.6(SACS):c.2562A>T (p.Lys854Asn)	SACS (K707N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684326	NM_014363.6(SACS):c.2465T>G (p.Ile822Ser)	SACS (I675S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684325	NM_014363.6(SACS):c.2428G>C (p.Glu810Gln)	SACS (E663Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684324	NM_014363.6(SACS):c.1485T>G (p.Phe495Leu)	SACS (F348L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684323	NM_014363.6(SACS):c.1028A>G (p.His343Arg)	SACS (H196R +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 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 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 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 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

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