"Institute of Human Genetics, University of Wuerzburg"[submitter] AND - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 560369	NM_001127222.2(CACNA1A):c.6689A>G (p.Gln2230Arg)	CACNA1A (Q2231R +3 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 1301865	NM_001127222.2(CACNA1A):c.1914-1G>A	CACNA1A	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental abnormality	GLikely pathogenic