"Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU Münc - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523785	NM_001127222.2(CACNA1A):c.4987C>T (p.Arg1663Ter)	CACNA1A (R1664* +3 more)	Single nucleotide variant (nonsense)	Episodic ataxia type 2 +2 more	GPathogenic
Select item 807553	NM_001127222.2(CACNA1A):c.4591-2A>G	CACNA1A	Single nucleotide variant (splice acceptor variant)	Episodic ataxia type 2	GLikely pathogenic
Select item 976736	NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn)	CACNA1A (T1355N +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +4 more	GPathogenic/Likely pathogenic
Select item 488475	NM_001127222.2(CACNA1A):c.2144A>C (p.Asn715Thr)	CACNA1A (N716T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42	GLikely pathogenic
Select item 8488	NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)	CACNA1A (T666M +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +4 more	GPathogenic
Select item 2584364	NM_001127222.2(CACNA1A):c.1486G>A (p.Val496Ile)	CACNA1A (V496I +1 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2	GLikely pathogenic

ClinVar