"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 883868	NM_014363.6(SACS):c.*821A>G	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia +2 more	GConflicting classifications of pathogenicity
Select item 193707	NM_014363.6(SACS):c.13717A>C (p.Asn4573His)	SACS (N4573H +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 1343977	NM_014363.6(SACS):c.13165T>G (p.Ser4389Ala)	SACS (S4242A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 1343976	NM_014363.6(SACS):c.12968C>T (p.Ser4323Leu)	SACS (S4176L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1343975	NM_014363.6(SACS):c.12854G>A (p.Ser4285Asn)	SACS (S4138N +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1343974	NM_014363.6(SACS):c.12835C>G (p.Leu4279Val)	SACS (L4132V +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 699710	NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser)	SACS (P4277S +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +3 more	GConflicting classifications of pathogenicity
Select item 458253	NM_014363.6(SACS):c.12813T>G (p.Pro4271=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 528026	NM_014363.6(SACS):c.12762C>T (p.Ser4254=)	SACS	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 235607	NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)	SACS (N4217D +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 240894	NM_014363.6(SACS):c.12597A>G (p.Pro4199=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 1343973	NM_014363.6(SACS):c.12581A>G (p.Tyr4194Cys)	SACS (Y4047C +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 311501	NM_014363.6(SACS):c.12438G>A (p.Ser4146=)	SACS	Single nucleotide variant (synonymous variant)	not provided +3 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 287518	NM_014363.6(SACS):c.11703T>C (p.Asn3901=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 240893	NM_014363.6(SACS):c.11688G>A (p.Arg3896=)	SACS	Single nucleotide variant (synonymous variant)	Charlevoix-Saguenay spastic ataxia +4 more	GConflicting classifications of pathogenicity
Select item 242492	NM_014363.6(SACS):c.11624G>A (p.Arg3875His)	SACS (R3875H +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +2 more	GConflicting classifications of pathogenicity
Select item 1343972	NM_014363.6(SACS):c.11539ATT[1] (p.Ile3848del)	SACS (I3701del +1 more)	Microsatellite (inframe_deletion)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1343971	NM_014363.6(SACS):c.11363G>A (p.Arg3788His)	SACS (R3641H +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 1343970	NM_014363.6(SACS):c.11326A>G (p.Ile3776Val)	SACS (I3629V +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1163059	NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser)	SACS (N3603S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 623825	NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln)	SACS (P3689Q +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +3 more	GConflicting classifications of pathogenicity
Select item 790533	NM_014363.6(SACS):c.11049T>C (p.Asn3683=)	SACS	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +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 212109	NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)	SACS (A3661V +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 695796	NM_014363.6(SACS):c.10980C>T (p.Pro3660=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 240892	NM_014363.6(SACS):c.10821C>A (p.Ile3607=)	SACS	Single nucleotide variant (synonymous variant)	Charlevoix-Saguenay spastic ataxia +4 more	GConflicting classifications of pathogenicity
Select item 240890	NM_014363.6(SACS):c.10611A>G (p.Ala3537=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 311512	NM_014363.6(SACS):c.10443C>G (p.Leu3481=)	SACS	Single nucleotide variant (synonymous variant)	Charlevoix-Saguenay spastic ataxia +3 more	GConflicting classifications of pathogenicity
Select item 130200	NM_014363.6(SACS):c.10338G>A (p.Gln3446=)	SACS	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 528027	NM_014363.6(SACS):c.10305T>C (p.Ser3435=)	SACS	Single nucleotide variant (synonymous variant)	Charlevoix-Saguenay spastic ataxia +5 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)	not specified +4 more	GBenign/Likely benign
Select item 971475	NM_014363.6(SACS):c.9947A>C (p.Gln3316Pro)	SACS (Q3169P +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 416834	NM_014363.6(SACS):c.9846A>G (p.Pro3282=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +2 more	GBenign/Likely benign
Select item 569203	NM_014363.6(SACS):c.9551G>A (p.Arg3184His)	SACS (R3184H +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 411687	NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser)	SACS (L3135S +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +3 more	GConflicting classifications of pathogenicity
Select item 458277	NM_014363.6(SACS):c.9399A>G (p.Lys3133=)	SACS	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 697192	NM_014363.6(SACS):c.9299C>A (p.Ser3100Tyr)	SACS (S2953Y +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 1344007	NM_014363.6(SACS):c.9119dup (p.Asn3040fs)	SACS (N2893fs +1 more)	Duplication (frameshift variant)	Spastic paraplegia +1 more	GPathogenic
Select item 1344006	NM_014363.6(SACS):c.9081dup (p.Asp3028Ter)	SACS (D2881* +1 more)	Duplication (nonsense)	Hereditary spastic paraplegia	GLikely pathogenic
Select item 448227	NM_014363.6(SACS):c.8972G>A (p.Arg2991His)	SACS (R2991H +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 193711	NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg)	SACS (K2958R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 130205	NM_014363.6(SACS):c.8853T>C (p.Val2951=)	SACS	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
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 1140538	NM_014363.6(SACS):c.8794C>T (p.Arg2932Trp)	SACS (R2785W +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 959991	NM_014363.6(SACS):c.8793dup (p.Arg2932fs)	SACS (R2785fs +1 more)	Duplication (frameshift variant)	Spastic paraplegia +3 more	GPathogenic/Likely pathogenic
Select item 1344003	NM_014363.6(SACS):c.8584A>T (p.Lys2862Ter)	SACS (K2715* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 522555	NM_014363.6(SACS):c.8579A>G (p.Asn2860Ser)	SACS (N2860S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 1344002	NM_014363.6(SACS):c.8450C>T (p.Thr2817Met)	SACS (T2670M +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 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 260400	NM_014363.6(SACS):c.8345C>T (p.Ala2782Val)	SACS (A2782V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 235345	NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr)	SACS (A2782T +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GBenign/Likely benign
Select item 240902	NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)	SACS (F2780C +1 more)	Single nucleotide variant (missense variant)	not specified +5 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)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 527993	NM_014363.6(SACS):c.8141C>T (p.Ser2714Leu)	SACS (S2714L +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 285243	NM_014363.6(SACS):c.8022T>C (p.Phe2674=)	SACS	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 882184	NM_014363.6(SACS):c.7988C>T (p.Pro2663Leu)	SACS (P2516L +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +2 more	GUncertain significance
Select item 448219	NM_014363.6(SACS):c.7737G>A (p.Lys2579=)	SACS	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1344000	NM_014363.6(SACS):c.7724T>G (p.Ile2575Arg)	SACS (I2428R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 311524	NM_014363.6(SACS):c.7647T>G (p.Leu2549=)	SACS	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 1343999	NM_014363.6(SACS):c.7546A>G (p.Thr2516Ala)	SACS (T2369A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	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 +5 more	GConflicting classifications of pathogenicity
Select item 5513	NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)	SACS (R2502* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia +3 more	GPathogenic
Select item 884138	NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)	SACS (S2318L +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 696175	NM_014363.6(SACS):c.7306A>C (p.Ile2436Leu)	SACS (I2436L +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +2 more	GConflicting classifications of pathogenicity
Select item 1091675	NM_014363.6(SACS):c.7275A>G (p.Arg2425=)	SACS	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 696801	NM_014363.6(SACS):c.7200T>C (p.Phe2400=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 806986	NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys)	SACS (E2237K +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 458273	NM_014363.6(SACS):c.7149C>T (p.Arg2383=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GBenign/Likely benign
Select item 1081619	NM_014363.6(SACS):c.6978C>G (p.Ala2326=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 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)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 240901	NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)	SACS (L2261I +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 551523	NM_014363.6(SACS):c.6663del (p.Lys2221fs)	SACS (K2074fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 1343996	NM_014363.6(SACS):c.6377T>C (p.Ile2126Thr)	SACS (I1979T +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 448215	NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser)	SACS (R2112S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 130203	NM_014363.6(SACS):c.6195T>C (p.Ile2065=)	SACS	Single nucleotide variant (synonymous variant)	Charlevoix-Saguenay spastic ataxia +4 more	GBenign/Likely benign
Select item 311535	NM_014363.6(SACS):c.6069C>T (p.Asn2023=)	SACS	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 448212	NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn)	SACS (K2017N +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 288238	NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)	SACS (D2003V +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 1256216	NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln)	SACS (R1730Q +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 695691	NM_014363.6(SACS):c.5502G>C (p.Leu1834=)	SACS	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 696629	NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)	SACS (C1674R +1 more)	Single nucleotide variant (missense variant)	SACS-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1343993	NM_014363.6(SACS):c.5450C>T (p.Thr1817Met)	SACS (T1670M +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1343992	NM_014363.6(SACS):c.5385G>A (p.Met1795Ile)	SACS (M1648I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 663242	NM_014363.6(SACS):c.5368G>A (p.Ala1790Thr)	SACS (A1790T +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 311541	NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile)	SACS (T1741I +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 448205	NM_014363.6(SACS):c.5151dup (p.Ser1718fs)	SACS (S1718fs +1 more)	Duplication (frameshift variant)	not provided +4 more	GPathogenic
Select item 556068	NM_014363.6(SACS):c.5149_5151del (p.Lys1717del)	SACS (K1717del +1 more)	Deletion (inframe_deletion)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 586433	NM_014363.6(SACS):c.4985C>T (p.Thr1662Met)	SACS (T1662M +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 436632	NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln)	SACS (E1634Q +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 953642	NM_014363.6(SACS):c.4814G>C (p.Ser1605Thr)	SACS (S1458T +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1202576	NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs)	SACS (N1439fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia +2 more	GPathogenic
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 1087045	NM_014363.6(SACS):c.4749A>G (p.Pro1583=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 458265	NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)	SACS (D1582N +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 212114	NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)	SACS (N1489S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GBenign/Likely benign
Select item 311544	NM_014363.6(SACS):c.4302A>G (p.Leu1434=)	SACS	Single nucleotide variant (synonymous variant)	SACS-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 1343990	NM_014363.6(SACS):c.4118C>A (p.Ala1373Glu)	SACS (A1226E +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GLikely pathogenic

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