ClinVar for MedGen (Select 462813) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2497301	NM_001010874.5(TECRL):c.236T>C (p.Val79Ala)	TECRL (V79A)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 3 +1 more	GUncertain significance
Select item 2442197	NM_001010874.5(TECRL):c.271_272del (p.Lys91fs)	TECRL (K91fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 3	GLikely pathogenic
Select item 1804999	NM_001010874.5(TECRL):c.55C>T (p.Gln19Ter)	TECRL (Q19*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 3	GUncertain significance
Select item 1794643	NM_001010874.5(TECRL):c.1009del (p.Ala337fs)	TECRL (A337fs)	Deletion (frameshift variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia 3 +1 more	GConflicting classifications of pathogenicity
Select item 1766009	NM_001010874.5(TECRL):c.915T>G (p.Tyr305Ter)	TECRL (Y305*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1321522	NM_001010874.5(TECRL):c.893T>C (p.Val298Ala)	TECRL (V298A)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1210126	NM_001010874.5(TECRL):c.742_758del (p.Arg248fs)	TECRL (R248fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 3	GLikely pathogenic
Select item 1034365	NM_001010874.5(TECRL):c.172A>G (p.Thr58Ala)	TECRL (T58A)	Single nucleotide variant (missense variant)	TECRL-related condition +2 more	GConflicting classifications of pathogenicity
Select item 814027	NM_001010874.5(TECRL):c.918+3A>G	TECRL	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 3	GPathogenic
Select item 372284	NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln)	TECRL (R196Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 3 +1 more	GLikely pathogenic
Select item 372283	NM_001010874.5(TECRL):c.331+1G>A	TECRL	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 3	GPathogenic