C1849140[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1687446	NM_014363.6(SACS):c.11008_11013del (p.Tyr3670_Gln3671del)	SACS	Deletion (inframe_deletion)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 1333330	NM_014363.6(SACS):c.9879del (p.Val3294fs)	SACS (V3147fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 1526070	NM_014363.6(SACS):c.9346_9354dup (p.Lys3116_Pro3118dup)	SACS	Duplication (inframe_insertion)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 2444089	NM_014363.6(SACS):c.9219_9220del (p.Cys3073_Asp3074delinsTer)	SACS	Microsatellite (nonsense)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 1027860	NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)	SACS (R2906* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1705318	NM_014363.6(SACS):c.8009dup (p.Leu2670fs)	SACS (L2523fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2572587	NM_014363.6(SACS):c.7634del (p.Met2545fs)	SACS (M2398fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2444281	NM_014363.6(SACS):c.5645T>G (p.Leu1882Trp)	SACS (L1735W +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 1687226	NM_014363.6(SACS):c.5037_5038del (p.Cys1679fs)	SACS (C1532fs +1 more)	Microsatellite (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 1687406	NM_014363.6(SACS):c.4684del (p.Ser1562fs)	SACS (S1415fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 1320089	NM_014363.6(SACS):c.3159_3160del (p.Leu1053_Phe1054insTer)	SACS	Microsatellite (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 1320088	NM_014363.6(SACS):c.1596T>A (p.Tyr532Ter)	SACS (Y385* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2444233	NM_014363.6(SACS):c.1252C>G (p.Pro418Ala)	SACS (P271A +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance