C1832931[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 451310	NM_001035.3(RYR2):c.950T>C (p.Met317Thr)	RYR2 (M317T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GConflicting classifications of pathogenicity
Select item 93480	NM_001035.3(RYR2):c.982G>A (p.Ala328Thr)	RYR2 (A328T)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 547976	NM_001035.3(RYR2):c.1600T>C (p.Tyr534His)	RYR2 (Y534H)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +1 more	GUncertain significance
Select item 875150	NM_001035.3(RYR2):c.2930A>T (p.Lys977Met)	RYR2 (K977M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +2 more	GUncertain significance
Select item 178120	NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)	RYR2 (C1489R)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 43785	NM_001035.3(RYR2):c.4596+4C>T	RYR2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 375865	NM_001035.3(RYR2):c.5822G>A (p.Arg1941His)	RYR2 (R1941H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +6 more	GUncertain significance
Select item 629423	NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr)	RYR2 (A3064T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GUncertain significance
Select item 532339	NM_001035.3(RYR2):c.12091A>G (p.Thr4031Ala)	RYR2 (T4031A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +6 more	GConflicting classifications of pathogenicity