"Victorian Clinical Genetics Services, Murdoch Childrens Research Inst - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1323907	NM_018075.5(ANO10):c.139+1G>T	ANO10	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 434215	NM_018075.5(ANO10):c.96del (p.Glu33fs)	ANO10 (E33fs)	Deletion (frameshift variant)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GPathogenic
Select item 1805383	NM_018075.5(ANO10):c.1A>G (p.Met1Val)	ANO10 (M1V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 10	GLikely pathogenic

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