"Counsyl"[submitter] AND "SACS"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 554274	NM_014363.6(SACS):c.*20del	SACS	Deletion (3 prime UTR variant)	not provided +1 more	GLikely benign
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 554337	NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp)	SACS (N4549D +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 555872	NM_014363.6(SACS):c.13614C>G (p.Tyr4538Ter)	SACS (Y4538* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 558492	NM_014363.6(SACS):c.13540C>T (p.Gln4514Ter)	SACS (Q4514* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 556241	NM_014363.6(SACS):c.13405G>C (p.Ala4469Pro)	SACS (A4469P +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 554193	NM_014363.6(SACS):c.13393del (p.Leu4465fs)	SACS (L4465fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 558482	NM_014363.6(SACS):c.13360del (p.Ala4454fs)	SACS (A4307fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 552434	NM_014363.6(SACS):c.13349G>A (p.Trp4450Ter)	SACS (W4450* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 555066	NM_014363.6(SACS):c.13284C>A (p.Tyr4428Ter)	SACS (Y4428* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 371248	NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter)	SACS (Y4281* +1 more)	Duplication (nonsense)	Charlevoix-Saguenay spastic ataxia +1 more	GLikely pathogenic
Select item 556998	NM_014363.6(SACS):c.13276C>T (p.Gln4426Ter)	SACS (Q4426* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 556149	NM_014363.6(SACS):c.13178_13185dup (p.Arg4396fs)	SACS (R4249fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 370756	NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter)	SACS (R4378* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 551194	NM_014363.6(SACS):c.13120_13121del (p.Arg4374fs)	SACS (R4227fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 502677	NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys)	SACS (E4343K +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 553688	NM_014363.6(SACS):c.12991C>T (p.Arg4331Trp)	SACS (R4331W +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 555233	NM_014363.6(SACS):c.12980del (p.Lys4327fs)	SACS (K4180fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 371466	NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs)	SACS (K4161fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 189014	NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs)	SACS (E4137fs +1 more)	Microsatellite (frameshift variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 553047	NM_014363.6(SACS):c.12835_12837del (p.Leu4279del)	SACS (L4279del +1 more)	Deletion (inframe_deletion)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 558550	NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs)	SACS (L4132fs +1 more)	Microsatellite (frameshift variant)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 557396	NM_014363.6(SACS):c.12830CTC[1] (p.Pro4278del)	SACS (P4278del +1 more)	Microsatellite (inframe_deletion)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 551800	NM_014363.6(SACS):c.12779del (p.Ser4260fs)	SACS (S4260fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 552883	NM_014363.6(SACS):c.12775_12777del (p.Pro4259del)	SACS (P4259del +1 more)	Deletion (inframe_deletion)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 553535	NM_014363.6(SACS):c.12766del (p.Asp4256fs)	SACS (D4109fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 555328	NM_014363.6(SACS):c.12688G>A (p.Gly4230Ser)	SACS (G4230S +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 555200	NM_014363.6(SACS):c.12661C>G (p.Leu4221Val)	SACS (L4221V +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 553524	NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter)	SACS (Q4208* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 370248	NM_014363.6(SACS):c.12540del (p.Glu4180fs)	SACS (E4180fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 554717	NM_014363.6(SACS):c.12434_12435del (p.Ser4145fs)	SACS (S4145fs +1 more)	Microsatellite (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 551680	NM_014363.6(SACS):c.12407_12411del (p.Leu4136fs)	SACS (L3989fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 555242	NM_014363.6(SACS):c.12323C>G (p.Ser4108Ter)	SACS (S4108* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 188867	NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter)	SACS (R4078* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 557285	NM_014363.6(SACS):c.12218_12219del (p.Phe4073fs)	SACS (F3926fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 38458	NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)	SACS (Q4054* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia +2 more	GPathogenic/Likely pathogenic
Select item 553780	NM_014363.6(SACS):c.12150del (p.Phe4050fs)	SACS (F3903fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 553427	NM_014363.6(SACS):c.12054del (p.Ile4018_Met4019insTer)	SACS	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 557766	NM_014363.6(SACS):c.12020C>T (p.Ser4007Phe)	SACS (S4007F +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 557833	NM_014363.6(SACS):c.11935G>T (p.Glu3979Ter)	SACS (E3979* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 550786	NM_014363.6(SACS):c.11877dup (p.Lys3960Ter)	SACS (K3813* +1 more)	Duplication (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 552159	NM_014363.6(SACS):c.11857_11859del (p.Lys3953del)	SACS (K3953del +1 more)	Deletion (inframe_deletion)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 555311	NM_014363.6(SACS):c.11772dup (p.Asp3925Ter)	SACS (D3925* +1 more)	Duplication (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 371386	NM_014363.6(SACS):c.11731del (p.Ser3911fs)	SACS (S3764fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 552396	NM_014363.6(SACS):c.11713del (p.Ala3906fs)	SACS (A3759fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 555813	NM_014363.6(SACS):c.11627_11628del (p.Thr3876fs)	SACS (T3729fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 558134	NM_014363.6(SACS):c.11506_11521del (p.His3836fs)	SACS (H3836fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 553767	NM_014363.6(SACS):c.11509C>T (p.Gln3837Ter)	SACS (Q3837* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 557928	NM_014363.6(SACS):c.11428dup (p.Glu3810fs)	SACS (E3663fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 557008	NM_014363.6(SACS):c.11373dup (p.Arg3792fs)	SACS (R3792fs +1 more)	Duplication (frameshift variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 370283	NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)	SACS (R3792* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 550274	NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs)	SACS (I3608fs +1 more)	Microsatellite (frameshift variant)	Spastic paraplegia +2 more	GPathogenic
Select item 371392	NM_014363.6(SACS):c.11247_11250del (p.Asn3750fs)	SACS (N3603fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 370320	NM_014363.6(SACS):c.11185C>T (p.Gln3729Ter)	SACS (Q3729* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 551261	NM_014363.6(SACS):c.11179C>T (p.Gln3727Ter)	SACS (Q3727* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 551660	NM_014363.6(SACS):c.11149_11150insT (p.Lys3717fs)	SACS (K3570fs +1 more)	Insertion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 370905	NM_014363.6(SACS):c.11081dup (p.Cys3694fs)	SACS (C3547fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 370353	NM_014363.6(SACS):c.11042dup (p.Phe3682fs)	SACS (F3535fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 557887	NM_014363.6(SACS):c.11039_11040insTA (p.Phe3682fs)	SACS (F3535fs +1 more)	Insertion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 550102	NM_014363.6(SACS):c.10993_11002dup (p.Pro3668fs)	SACS (P3521fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 38457	NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln)	SACS (R3636Q +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +1 more	GUncertain significance
Select item 212108	NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)	SACS (R3636* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia +2 more	GPathogenic/Likely pathogenic
Select item 370549	NM_014363.6(SACS):c.10864C>T (p.Gln3622Ter)	SACS (Q3622* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 370796	NM_014363.6(SACS):c.10854del (p.Glu3619fs)	SACS (E3472fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 557443	NM_014363.6(SACS):c.10822_10823del (p.Ser3608fs)	SACS (S3461fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 371095	NM_014363.6(SACS):c.10804C>T (p.Gln3602Ter)	SACS (Q3602* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 555558	NM_014363.6(SACS):c.10755_10757del (p.Phe3585del)	SACS (F3585del +1 more)	Deletion (inframe_deletion)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 311510	NM_014363.6(SACS):c.10699G>A (p.Glu3567Lys)	SACS (E3567K +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 370696	NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs)	SACS (F3415fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 550149	NM_014363.6(SACS):c.10651_10656del (p.Met3551_Leu3552del)	SACS	Deletion (inframe_deletion)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 557271	NM_014363.6(SACS):c.10536del (p.Ile3513fs)	SACS (I3366fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 557621	NM_014363.6(SACS):c.10508_10510del (p.Arg3503_Leu3504delinsIle)	SACS	Deletion (inframe_indel)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 558204	NM_014363.6(SACS):c.10501_10505del (p.Leu3500_Lys3501insTer)	SACS	Deletion (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 370231	NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter)	SACS (Y3499* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 188710	NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs)	SACS (S3342fs +1 more)	Microsatellite (frameshift variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 556227	NM_014363.6(SACS):c.10424_10426del (p.Glu3475del)	SACS (E3475del +1 more)	Deletion (inframe_deletion)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 553095	NM_014363.6(SACS):c.10379_10383del (p.Lys3460fs)	SACS (K3313fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 371410	NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)	SACS (L3379* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 371582	NM_014363.6(SACS):c.10090del (p.Ala3364fs)	SACS (A3217fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 557719	NM_014363.6(SACS):c.10087A>T (p.Lys3363Ter)	SACS (K3363* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 550454	NM_014363.6(SACS):c.10050del (p.His3351fs)	SACS (H3351fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 556338	NM_014363.6(SACS):c.10034T>C (p.Val3345Ala)	SACS (V3345A +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 556499	NM_014363.6(SACS):c.10024_10025del (p.Ser3342fs)	SACS (S3195fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 550349	NM_014363.6(SACS):c.9898_9900del (p.Val3300del)	SACS (V3300del +1 more)	Deletion (inframe_deletion)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 556074	NM_014363.6(SACS):c.9893_9895del (p.Gly3298del)	SACS (G3298del +1 more)	Deletion (inframe_deletion)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 370406	NM_014363.6(SACS):c.9818_9831del (p.Asp3273fs)	SACS (D3126fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 550556	NM_014363.6(SACS):c.9774AGA[1] (p.Glu3259del)	SACS (E3259del +1 more)	Microsatellite (inframe_deletion)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 557123	NM_014363.6(SACS):c.9763_9764del (p.Val3255fs)	SACS (V3255fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 555098	NM_014363.6(SACS):c.9625_9628del (p.Phe3209fs)	SACS (F3062fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GPathogenic/Likely pathogenic
Select item 551942	NM_014363.6(SACS):c.9523ACA[1] (p.Thr3176del)	SACS (T3176del +1 more)	Microsatellite (inframe_deletion)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 280094	NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)	SACS (R3170* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia +2 more	GPathogenic/Likely pathogenic
Select item 557180	NM_014363.6(SACS):c.9498del (p.Phe3166fs)	SACS (F3166fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 555036	NM_014363.6(SACS):c.9447del (p.Val3150fs)	SACS (V3150fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 371537	NM_014363.6(SACS):c.9390_9391del (p.His3130fs)	SACS (H2983fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 552206	NM_014363.6(SACS):c.9375_9379del (p.Asn3125fs)	SACS (N3125fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 370930	NM_014363.6(SACS):c.9377dup (p.Leu3128fs)	SACS (L3128fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 550294	NM_014363.6(SACS):c.9356GTC[1] (p.Arg3120del)	SACS (R3120del +1 more)	Microsatellite (inframe_deletion)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 280809	NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)	SACS (L3102* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia +3 more	GPathogenic
Select item 371167	NM_014363.6(SACS):c.9088_9089dup (p.Leu3030fs)	SACS (L2883fs +1 more)	Duplication (frameshift variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 558044	NM_014363.6(SACS):c.8956C>G (p.His2986Asp)	SACS (H2986D +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +1 more	GUncertain significance

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