"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC126806068"[gen - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 626628	NM_001035.3(RYR2):c.12430C>T (p.Arg4144Cys)	LOC126806068, RYR2 (R4144C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 404179	NM_001035.3(RYR2):c.12463T>A (p.Ser4155Thr)	LOC126806068, RYR2 (S4155T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +3 more	GConflicting classifications of pathogenicity
Select item 499175	NM_001035.3(RYR2):c.12541G>A (p.Gly4181Arg)	LOC126806068, RYR2 (G4181R)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1003245	NM_001035.3(RYR2):c.12638A>G (p.Glu4213Gly)	LOC126806068, RYR2 (E4213G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1332236	NM_001035.3(RYR2):c.12664G>A (p.Glu4222Lys)	LOC126806068, RYR2 (E4222K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +4 more	GConflicting classifications of pathogenicity
Select item 922515	NM_001035.3(RYR2):c.12770G>A (p.Arg4257Gln)	LOC126806068, RYR2 (R4257Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +4 more	GUncertain significance
Select item 222794	NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile)	LOC126806068, RYR2 (M4279I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GConflicting classifications of pathogenicity
Select item 1434630	NM_001035.3(RYR2):c.12861C>G (p.Tyr4287Ter)	LOC126806068, RYR2 (Y4287*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 2 +2 more	GUncertain significance
Select item 1014648	NM_001035.3(RYR2):c.12865A>G (p.Ser4289Gly)	LOC126806068, RYR2 (S4289G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +4 more	GConflicting classifications of pathogenicity
Select item 927712	NM_001035.3(RYR2):c.12920G>A (p.Arg4307His)	LOC126806068, RYR2 (R4307H)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +4 more	GConflicting classifications of pathogenicity
Select item 925367	NM_001035.3(RYR2):c.13061T>G (p.Leu4354Arg)	LOC126806068, RYR2 (L4354R)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 532353	NM_001035.3(RYR2):c.13249G>C (p.Glu4417Gln)	LOC126806068, RYR2 (E4417Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +3 more	GUncertain significance