"Centre de Biologie Pathologie Génétique, Centre Hospitalier Universit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1700071	NM_000067.3(CA2):c.2T>G (p.Met1Arg)	CA2, CA3-AS1 (M1R)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental delay	GLikely pathogenic
Select item 804410	NM_000067.3(CA2):c.579C>G (p.Tyr193Ter)	CA2 (Y193* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental delay +1 more	GLikely pathogenic