"Genome-Nilou Lab"[submitter] AND "CACNA1G"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1192601	NM_018896.5(CACNA1G):c.489-56T>G	CACNA1G	Single nucleotide variant (intron variant)	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits +2 more	GBenign
Select item 1192602	NM_018896.5(CACNA1G):c.1141-71C>T	CACNA1G	Single nucleotide variant (intron variant)	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits +2 more	GBenign
Select item 1192603	NM_018896.5(CACNA1G):c.1141-29A>G	CACNA1G	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 42 +2 more	GBenign
Select item 377617	NM_018896.5(CACNA1G):c.1591C>A (p.Arg531=)	CACNA1G	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 1192604	NM_018896.5(CACNA1G):c.1925-56A>G	CACNA1G	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 42 +2 more	GBenign
Select item 1192605	NM_018896.5(CACNA1G):c.3792-87A>T	CACNA1G	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 42 +2 more	GBenign
Select item 1098727	NM_018896.5(CACNA1G):c.6309C>T (p.Leu2103=)	CACNA1G	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1192606	NM_018896.5(CACNA1G):c.6774T>C (p.Pro2258=)	CACNA1G	Single nucleotide variant (synonymous variant +1 more)	Spinocerebellar ataxia type 42 +2 more	GBenign

ClinVar