C0003811[trait identifier] AND "Clinical Genetics Laboratory, Region O - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3117	NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln)	KCNQ1 (R190Q +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +5 more	GPathogenic/Likely pathogenic
Select item 53072	NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)	KCNQ1 (R192fs +1 more)	Deletion (frameshift variant)	KCNQ1-Related Disorders +8 more	GPathogenic
Select item 3131	NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)	KCNQ1 (R518* +4 more)	Single nucleotide variant (nonsense)	not specified +8 more	GPathogenic
Select item 52996	NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)	KCNQ1 (Q530* +4 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +9 more	GPathogenic
Select item 53018	NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)	KCNQ1 (R594Q +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +9 more	GPathogenic/Likely pathogenic
Select item 372313	NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His)	CACNA1C (R518H +1 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +5 more	GPathogenic/Likely pathogenic
Select item 371385	NM_000018.4(ACADVL):c.996del (p.Ala333fs)	ACADVL (A311fs +3 more)	Deletion (frameshift variant)	Cardiac arrhythmia +1 more	GPathogenic/Likely pathogenic

ClinVar