C1631597[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 420366	NM_001232.4(CASQ2):c.615G>T (p.Lys205Asn)	CASQ2 (K205N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 201194	NM_001035.3(RYR2):c.527G>A (p.Arg176Gln)	RYR2 (R176Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic
Select item 201210	NM_001035.3(RYR2):c.1172C>G (p.Ala391Gly)	RYR2 (A391G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 178115	NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys)	RYR2 (R647C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 178121	NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met)	RYR2 (T2107M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +7 more	GUncertain significance
Select item 1332608	NM_001035.3(RYR2):c.6911T>C (p.Phe2304Ser)	RYR2 (F2304S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 201407	NM_001035.3(RYR2):c.6957_6959del (p.Val2321del)	RYR2 (V2321del)	Deletion (inframe_deletion)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +2 more	GConflicting classifications of pathogenicity
Select item 387716	NM_001035.3(RYR2):c.6958G>A (p.Val2320Met)	RYR2 (V2320M)	Single nucleotide variant (missense variant)	RYR2-related condition +4 more	GUncertain significance
Select item 691652	NM_001035.3(RYR2):c.7774T>G (p.Leu2592Val)	RYR2 (L2592V)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 201390	NM_001035.3(RYR2):c.8262G>C (p.Gln2754His)	RYR2 (Q2754H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 629423	NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr)	RYR2 (A3064T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +5 more	GUncertain significance
Select item 1480581	NM_001035.3(RYR2):c.11623G>T (p.Val3875Leu)	RYR2 (V3875L)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +2 more	GLikely pathogenic
Select item 2441802	NM_001035.3(RYR2):c.11805G>C (p.Leu3935Phe)	RYR2 (L3935F)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GLikely pathogenic
Select item 201329	NM_001035.3(RYR2):c.12301C>T (p.Leu4101Phe)	RYR2 (L4101F)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2582328	NM_001035.3(RYR2):c.14132G>A (p.Gly4711Glu)	RYR2 (G4711E)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +1 more	GUncertain significance
Select item 2442200	NM_001035.3(RYR2):c.14751T>G (p.Asn4917Lys)	RYR2 (N4917K)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 1032405	NM_006073.4(TRDN):c.1671A>G (p.Pro557=)	TRDN	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 5 +1 more	GUncertain significance
Select item 561136	NM_006073.4(TRDN):c.1187-2A>G	TRDN	Single nucleotide variant (splice acceptor variant)	Catecholaminergic polymorphic ventricular tachycardia 5 +3 more	GConflicting classifications of pathogenicity