"GenomeConnect - Brain Gene Registry"[submitter] AND "RYR3"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1037993	NM_001036.6(RYR3):c.1927C>T (p.Arg643Trp)	RYR3 (R643W)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 531050	NM_001036.6(RYR3):c.9625G>A (p.Asp3209Asn)	RYR3 (D3209N)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1701795	NM_001036.6(RYR3):c.14416C>T (p.His4806Tyr)	AVEN, RYR3 (H4801Y +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided

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