C1836906[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 47656	NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)	TTN, TTN-AS1 (K34293E +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 689321	NM_001005242.3(PKP2):c.2066_2070del (p.His689fs)	PKP2 (H689fs +1 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 9 +2 more	GPathogenic
Select item 6756	NM_001005242.3(PKP2):c.2014-1G>C	PKP2	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic right ventricular dysplasia 9 +4 more	GPathogenic
Select item 978331	NM_001005242.3(PKP2):c.1926T>A (p.Tyr642Ter)	PKP2 (Y642* +1 more)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 1 +1 more	GPathogenic/Likely pathogenic
Select item 2441851	NM_001005242.3(PKP2):c.1839+2T>A	PKP2	Single nucleotide variant (intron variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GLikely pathogenic
Select item 419977	NM_001005242.3(PKP2):c.1379-2047_1379-2043del	PKP2 (N480fs)	Deletion (frameshift variant +1 more)	Arrhythmogenic right ventricular dysplasia 9 +4 more	GConflicting classifications of pathogenicity
Select item 202015	NM_001005242.3(PKP2):c.837_838del (p.Val280fs)	PKP2 (V280fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 201976	NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter)	PKP2 (Y221*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic