"Baylor Genetics"[submitter] AND "LOC130009366"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 2678511	NM_014363.6(SACS):c.155G>A (p.Trp52Ter)	LOC130009366, SACS (W52*)	Single nucleotide variant (5 prime UTR variant +1 more)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 3240420	NM_014363.6(SACS):c.34_38del (p.Thr12fs)	LOC130009366, SACS (T12fs)	Deletion (5 prime UTR variant +1 more)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 370878	NM_014363.6(SACS):c.29del (p.Pro10fs)	LOC130009366, SACS (P10fs)	Deletion (5 prime UTR variant +1 more)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 1031265	NM_014363.6(SACS):c.25G>A (p.Val9Ile)	LOC130009366, SACS (V9I)	Single nucleotide variant (missense variant +1 more)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 944813	NM_014363.6(SACS):c.23G>A (p.Trp8Ter)	LOC130009366, SACS (W8*)	Single nucleotide variant (5 prime UTR variant +1 more)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic

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