"RYR3-related Epileptic encephalopathy"[Disease/phenotype] AND "New Yo - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 992769	NM_001036.6(RYR3):c.302G>A (p.Arg101Lys)	RYR3 (R101K)	Single nucleotide variant (missense variant)	RYR3-related Epileptic encephalopathy	GUncertain significance
Select item 658143	NM_001036.6(RYR3):c.556G>A (p.Val186Ile)	RYR3 (V186I)	Single nucleotide variant (missense variant)	RYR3-related Epileptic encephalopathy +1 more	GUncertain significance
Select item 1342531	NM_001036.6(RYR3):c.949G>A (p.Ala317Thr)	RYR3 (A317T)	Single nucleotide variant (missense variant)	RYR3-related Epileptic encephalopathy +1 more	GUncertain significance
Select item 977427	NM_001036.6(RYR3):c.4593G>A (p.Met1531Ile)	RYR3 (M1531I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 657992	NM_001036.6(RYR3):c.5042A>G (p.Lys1681Arg)	RYR3 (K1681R)	Single nucleotide variant (missense variant)	RYR3-related Epileptic encephalopathy +2 more	GUncertain significance
Select item 1342606	NM_001036.6(RYR3):c.6992G>C (p.Gly2331Ala)	RYR3 (G2331A)	Single nucleotide variant (missense variant)	RYR3-related Epileptic encephalopathy	GUncertain significance
Select item 644937	NM_001036.6(RYR3):c.8164G>A (p.Asp2722Asn)	RYR3 (D2722N)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 1342611	NM_001036.6(RYR3):c.10637C>T (p.Thr3546Ile)	RYR3 (T3541I +1 more)	Single nucleotide variant (missense variant)	RYR3-related Epileptic encephalopathy	GUncertain significance
Select item 978196	NM_001036.6(RYR3):c.10796A>G (p.Asp3599Gly)	RYR3 (D3594G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1342625	NM_001036.6(RYR3):c.13717G>C (p.Glu4573Gln)	AVEN, LOC126862094 +1 more (E4568Q +1 more)	Single nucleotide variant (missense variant)	RYR3-related Epileptic encephalopathy +1 more	GUncertain significance
Select item 1342634	NM_001036.6(RYR3):c.14510C>T (p.Thr4837Met)	AVEN, RYR3 (T4832M +1 more)	Single nucleotide variant (missense variant)	RYR3-related Epileptic encephalopathy	GUncertain significance