"Phosphorus, Inc."[submitter] AND "RYR2"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 532404	NM_001035.3(RYR2):c.848+8G>C	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GConflicting classifications of pathogenicity
Select item 1339305	NM_001035.3(RYR2):c.4064T>A (p.Val1355Glu)	LOC126806067, RYR2 (V1355E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 920059	NM_001035.3(RYR2):c.5056C>T (p.Leu1686Phe)	RYR2 (L1686F)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 629414	NM_001035.3(RYR2):c.5298C>T (p.Pro1766=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GLikely benign
Select item 927431	NM_001035.3(RYR2):c.10972A>C (p.Thr3658Pro)	RYR2 (T3658P)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 165128	NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)	RYR2 (E4431K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 488158	NM_001035.3(RYR2):c.13412G>C (p.Gly4471Ala)	RYR2 (G4471A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +2 more	GUncertain significance
Select item 463566	NM_001035.3(RYR2):c.13449A>G (p.Lys4483=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GLikely benign
Select item 1339292	NM_001035.3(RYR2):c.14469T>C (p.Ala4823=)	RYR2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1339307	NM_001035.3(RYR2):c.14782A>C (p.Lys4928Gln)	RYR2 (K4928Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1339306	NM_001035.3(RYR2):c.14786A>T (p.Asp4929Val)	RYR2 (D4929V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance