ClinVar for MedGen (Select 138002) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 923807	NM_000218.3(KCNQ1):c.1904G>A (p.Gly635Glu)	KCNQ1, KCNQ1-AS1 (G635E +5 more)	Single nucleotide variant (missense variant)	Polymorphic ventricular tachycardia +8 more	GUncertain significance
Select item 228915	NM_000257.4(MYH7):c.5191G>A (p.Asp1731Asn)	LOC126861897, MHRT +1 more (D1731N)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +5 more	GUncertain significance
Select item 191379	NM_001035.3(RYR2):c.5657dup (p.Lys1887fs)	RYR2 (K1887fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 2 +5 more	GUncertain significance
Select item 162814	NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)	CASQ2 (F189L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +7 more	GConflicting classifications of pathogenicity
Select item 161384	NM_001035.3(RYR2):c.13666G>A (p.Ala4556Thr)	RYR2 (A4556T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GUncertain significance
Select item 161383	NM_001035.3(RYR2):c.1396C>G (p.Pro466Ala)	RYR2 (P466A)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 161382	NM_001035.3(RYR2):c.556G>A (p.Val186Met)	RYR2 (V186M)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance

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