C4225205[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030677	NM_018896.5(CACNA1G):c.1654T>C (p.Ser552Pro)	CACNA1G (S552P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1033911	NM_018896.5(CACNA1G):c.2407A>C (p.Ile803Leu)	CACNA1G (I803L)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42 +2 more	GConflicting classifications of pathogenicity
Select item 1033912	NM_018896.5(CACNA1G):c.2911G>T (p.Glu971Ter)	CACNA1G (E971*)	Single nucleotide variant (nonsense +2 more)	Spinocerebellar ataxia type 42	GUncertain significance
Select item 1030678	NM_018896.5(CACNA1G):c.4028G>A (p.Arg1343Gln)	CACNA1G (R1343Q +1 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GUncertain significance
Select item 1030680	NM_018896.5(CACNA1G):c.5230G>A (p.Gly1744Arg)	CACNA1G (G1699R +14 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 42	GUncertain significance
Select item 1030681	NM_018896.5(CACNA1G):c.6944C>T (p.Pro2315Leu)	CACNA1G (P2109L +26 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GUncertain significance
Select item 1033913	NM_018896.5(CACNA1G):c.7088T>C (p.Leu2363Pro)	CACNA1G (L2234P +26 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GUncertain significance

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