"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "SACS"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193707	NM_014363.6(SACS):c.13717A>C (p.Asn4573His)	SACS (N4573H +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2159573	NM_014363.6(SACS):c.13503A>C (p.Lys4501Asn)	SACS (K4354N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 290508	NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn)	SACS (D4346N +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1343976	NM_014363.6(SACS):c.12968C>T (p.Ser4323Leu)	SACS (S4176L +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 3380135	NM_014363.6(SACS):c.12950C>T (p.Ala4317Val)	SACS (A4170V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694081	NM_014363.6(SACS):c.12665G>A (p.Gly4222Glu)	SACS (G4075E +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 806982	NM_014363.6(SACS):c.12367A>G (p.Met4123Val)	SACS (M3976V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 130201	NM_014363.6(SACS):c.12304T>C (p.Leu4102=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GBenign/Likely benign
Select item 2683223	NM_014363.6(SACS):c.12271T>C (p.Ser4091Pro)	SACS (S3944P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 586421	NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu)	SACS (F4050L +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 559184	NM_014363.6(SACS):c.11942A>G (p.Gln3981Arg)	SACS (Q3981R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1163058	NM_014363.6(SACS):c.11428G>A (p.Glu3810Lys)	SACS (E3663K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302959	NM_014363.6(SACS):c.11276C>T (p.Thr3759Met)	SACS (T3612M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1163059	NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser)	SACS (N3603S +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +3 more	GConflicting classifications of pathogenicity
Select item 260391	NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala)	SACS (P3678A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GBenign/Likely benign
Select item 411693	NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr)	SACS (P3652T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2623430	NM_014363.6(SACS):c.10730C>A (p.Thr3577Lys)	SACS (T3430K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 501122	NM_014363.6(SACS):c.10668G>A (p.Leu3556=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 448185	NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys)	SACS (Y3541C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 311511	NM_014363.6(SACS):c.10576A>G (p.Ile3526Val)	SACS (I3526V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1929660	NM_014363.6(SACS):c.10454T>C (p.Ile3485Thr)	SACS (I3338T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 130200	NM_014363.6(SACS):c.10338G>A (p.Gln3446=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GBenign
Select item 1163060	NM_014363.6(SACS):c.10276T>C (p.Phe3426Leu)	SACS (F3279L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 448184	NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile)	SACS (T3373I +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 130199	NM_014363.6(SACS):c.10106T>C (p.Val3369Ala)	SACS (V3369A +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GBenign/Likely benign
Select item 130206	NM_014363.6(SACS):c.9981T>C (p.Ala3327=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GBenign/Likely benign
Select item 3380136	NM_014363.6(SACS):c.9656C>T (p.Ser3219Phe)	SACS (S3072F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 586446	NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)	SACS (F3188L +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 2682944	NM_014363.6(SACS):c.9293del (p.Ile3098fs)	SACS (I2951fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 942151	NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe)	SACS (Y3092F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 965645	NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr)	SACS (I2937T +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +2 more	GConflicting classifications of pathogenicity
Select item 3380137	NM_014363.6(SACS):c.8936A>G (p.Lys2979Arg)	SACS (K2832R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1050150	NM_014363.6(SACS):c.8902C>T (p.Leu2968Phe)	SACS (L2821F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193711	NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg)	SACS (K2958R +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 130205	NM_014363.6(SACS):c.8853T>C (p.Val2951=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GBenign/Likely benign
Select item 3380138	NM_014363.6(SACS):c.8848C>G (p.His2950Asp)	SACS (H2803D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 5512	NM_014363.6(SACS):c.8844del (p.Ile2949fs)	SACS (I2802fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia +3 more	GPathogenic
Select item 311517	NM_014363.6(SACS):c.8577C>T (p.His2859=)	SACS	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 212115	NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)	SACS (P2798Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 2683225	NM_014363.6(SACS):c.8374A>T (p.Arg2792Trp)	SACS (R2645W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 240902	NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)	SACS (F2780C +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1119307	NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu)	SACS (Q2632L +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +2 more	GConflicting classifications of pathogenicity
Select item 411694	NM_014363.6(SACS):c.8245A>G (p.Ile2749Val)	SACS (I2749V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 932517	NM_014363.6(SACS):c.8166G>T (p.Met2722Ile)	SACS (M2575I +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 3380139	NM_014363.6(SACS):c.7975A>G (p.Thr2659Ala)	SACS (T2512A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380140	NM_014363.6(SACS):c.7880A>G (p.Asn2627Ser)	SACS (N2480S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163061	NM_014363.6(SACS):c.7819C>A (p.Leu2607Ile)	SACS (L2460I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260399	NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)	SACS (A2510T +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 448218	NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser)	SACS (P2462S +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 559185	NM_014363.6(SACS):c.7288G>A (p.Glu2430Lys)	SACS (E2430K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3380141	NM_014363.6(SACS):c.7282A>C (p.Ile2428Leu)	SACS (I2281L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 586443	NM_014363.6(SACS):c.7282A>G (p.Ile2428Val)	SACS (I2428V +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +2 more	GConflicting classifications of pathogenicity
Select item 458273	NM_014363.6(SACS):c.7149C>T (p.Arg2383=)	SACS	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 880850	NM_014363.6(SACS):c.7147C>T (p.Arg2383Cys)	SACS (R2383C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 285241	NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys)	SACS (N2380K +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +4 more	GConflicting classifications of pathogenicity
Select item 311528	NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr)	SACS (A2318T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 311531	NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala)	SACS (T2212A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 458268	NM_014363.6(SACS):c.6343C>T (p.His2115Tyr)	SACS (H2115Y +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 2038982	NM_014363.6(SACS):c.6278G>A (p.Arg2093His)	SACS (R1946H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 283782	NM_014363.6(SACS):c.6267G>A (p.Ser2089=)	SACS	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 448214	NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu)	SACS (S2089L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 287211	NM_014363.6(SACS):c.6240T>C (p.Val2080=)	SACS	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 371558	NM_014363.6(SACS):c.6221del (p.Asp2074fs)	SACS (D2074fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 130203	NM_014363.6(SACS):c.6195T>C (p.Ile2065=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GBenign/Likely benign
Select item 2683226	NM_014363.6(SACS):c.6008A>C (p.Asp2003Ala)	SACS (D1856A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1143578	NM_014363.6(SACS):c.5971G>A (p.Val1991Ile)	SACS (V1844I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 240900	NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn)	SACS (D1950N +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +1 more	GConflicting classifications of pathogenicity
Select item 586434	NM_014363.6(SACS):c.5744A>G (p.His1915Arg)	SACS (H1915R +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +2 more	GConflicting classifications of pathogenicity
Select item 1900710	NM_014363.6(SACS):c.5462G>A (p.Cys1821Tyr)	SACS (C1674Y +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1343991	NM_014363.6(SACS):c.5323G>A (p.Ala1775Thr)	SACS (A1628T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 556068	NM_014363.6(SACS):c.5149_5151del (p.Lys1717del)	SACS (K1717del +1 more)	Deletion (inframe_deletion)	Charlevoix-Saguenay spastic ataxia +2 more	GUncertain significance
Select item 1074005	NM_014363.6(SACS):c.5008_5011del (p.Tyr1670fs)	SACS (Y1523fs +1 more)	Microsatellite (frameshift variant)	Spastic paraplegia +1 more	GPathogenic
Select item 1124825	NM_014363.6(SACS):c.4955A>G (p.Gln1652Arg)	SACS (Q1505R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 995228	NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu)	SACS (F1467L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 527996	NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser)	SACS (N1586S +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 1709385	NM_014363.6(SACS):c.4723C>T (p.Arg1575Trp)	SACS (R1428W +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +1 more	GConflicting classifications of pathogenicity
Select item 882273	NM_014363.6(SACS):c.4255A>G (p.Ile1419Val)	SACS (I1272V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 283779	NM_014363.6(SACS):c.4188C>T (p.His1396=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +3 more	GBenign/Likely benign
Select item 193706	NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)	SACS (M1359T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 559186	NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala)	SACS (G1169A +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 212112	NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)	SACS (Q1143K +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 3380142	NM_014363.6(SACS):c.3385A>C (p.Lys1129Gln)	SACS (K1129Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 883326	NM_014363.6(SACS):c.3346G>A (p.Gly1116Ser)	SACS (G1116S +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 1163543	NM_014363.6(SACS):c.3052G>A (p.Glu1018Lys)	SACS (E1018K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 281206	NM_014363.6(SACS):c.2996T>C (p.Ile999Thr)	SACS (I999T +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 1424932	NM_014363.6(SACS):c.2987T>G (p.Leu996Ter)	SACS (L849* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 448199	NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)	SACS (R976S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3380143	NM_014363.6(SACS):c.2917G>A (p.Ala973Thr)	SACS (A826T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 549687	NM_014363.6(SACS):c.2903_2906del (p.Asp968fs)	SACS (D821fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia +2 more	GPathogenic
Select item 2683227	NM_014363.6(SACS):c.2894C>T (p.Ser965Leu)	SACS (S818L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694083	NM_014363.6(SACS):c.2726G>T (p.Ser909Ile)	SACS (S762I +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +1 more	GUncertain significance
Select item 3381095	NM_014363.6(SACS):c.2671_2675del (p.Gln891fs)	SACS (Q744fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 458260	NM_014363.6(SACS):c.2599T>C (p.Tyr867His)	SACS (Y867H +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 458258	NM_014363.6(SACS):c.2234G>A (p.Arg745His)	SACS (R745H +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 3380144	NM_014363.6(SACS):c.2186G>A (p.Gly729Glu)	SACS (G582E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806967	NM_014363.6(SACS):c.2180C>G (p.Thr727Ser)	SACS (T580S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 240895	NM_014363.6(SACS):c.2080G>A (p.Ala694Thr)	SACS (A694T +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +4 more	GBenign
Select item 661759	NM_014363.6(SACS):c.1907G>A (p.Arg636Gln)	SACS (R636Q +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 559187	NM_014363.6(SACS):c.1906C>T (p.Arg636Trp)	SACS (R636W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 448197	NM_014363.6(SACS):c.1885G>A (p.Ala629Thr)	SACS (A629T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity

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