"Color Diagnostics, LLC DBA Color Health"[submitter] AND "KCNQ1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 304216	NM_000218.3(KCNQ1):c.387-7C>T	KCNQ1	Single nucleotide variant (intron variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 2773461	NM_000218.3(KCNQ1):c.387-4G>T	KCNQ1	Single nucleotide variant (intron variant)	Cardiac arrhythmia	GUncertain significance
Select item 1171963	NM_000218.3(KCNQ1):c.387-3C>T	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome +1 more	GLikely benign
Select item 53040	NM_000218.3(KCNQ1):c.394A>C (p.Ile132Leu)	KCNQ1 (I132L +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2773462	NM_000218.3(KCNQ1):c.410T>C (p.Leu137Pro)	KCNQ1 (L10P +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 1171772	NM_000218.3(KCNQ1):c.417C>T (p.Phe139=)	KCNQ1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 633280	NM_000218.3(KCNQ1):c.420C>T (p.Ser140=)	KCNQ1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 2773463	NM_000218.3(KCNQ1):c.426G>C (p.Leu142=)	KCNQ1	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia	GLikely benign
Select item 163734	NM_000218.3(KCNQ1):c.435C>T (p.Ile145=)	KCNQ1	Single nucleotide variant (synonymous variant)	Short QT syndrome type 2 +8 more	GBenign/Likely benign
Select item 53043	NM_000218.3(KCNQ1):c.436G>A (p.Glu146Lys)	KCNQ1 (E146K +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 207969	NM_000218.3(KCNQ1):c.443del (p.Tyr148fs)	KCNQ1 (Y148fs +1 more)	Deletion (frameshift variant)	Long QT syndrome +2 more	GPathogenic
Select item 1331890	NM_000218.3(KCNQ1):c.445G>A (p.Ala149Thr)	KCNQ1 (A149T +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 138011	NM_000218.3(KCNQ1):c.447C>T (p.Ala149=)	KCNQ1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 200909	NM_000218.3(KCNQ1):c.448G>A (p.Ala150Thr)	KCNQ1 (A150T +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 67075	NM_000218.3(KCNQ1):c.458C>T (p.Thr153Met)	KCNQ1 (T153M +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +5 more	GConflicting classifications of pathogenicity
Select item 138012	NM_000218.3(KCNQ1):c.459G>A (p.Thr153=)	KCNQ1	Single nucleotide variant (synonymous variant)	Long QT syndrome +9 more	GConflicting classifications of pathogenicity
Select item 926992	NM_000218.3(KCNQ1):c.462G>A (p.Gly154=)	KCNQ1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 919353	NM_000218.3(KCNQ1):c.465T>A (p.Thr155=)	KCNQ1	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia	GLikely benign
Select item 200874	NM_000218.3(KCNQ1):c.477+1G>A	KCNQ1	Single nucleotide variant (splice donor variant)	Long QT syndrome 1 +5 more	GPathogenic
Select item 1171600	NM_000218.3(KCNQ1):c.477+4C>G	KCNQ1	Single nucleotide variant (intron variant)	Cardiac arrhythmia	GUncertain significance
Select item 667573	NM_000218.3(KCNQ1):c.477+4C>T	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 53047	NM_000218.3(KCNQ1):c.477+5G>A	KCNQ1	Single nucleotide variant (intron variant)	not specified +6 more	GPathogenic
Select item 42490	NM_000218.3(KCNQ1):c.478-10G>A	KCNQ1	Single nucleotide variant (intron variant)	Short QT syndrome type 2 +8 more	GBenign
Select item 928209	NM_000218.3(KCNQ1):c.478-8C>G	KCNQ1	Single nucleotide variant (intron variant)	Cardiac arrhythmia	GUncertain significance
Select item 42491	NM_000218.3(KCNQ1):c.478-8C>T	KCNQ1	Single nucleotide variant (intron variant)	Short QT syndrome +6 more	GBenign/Likely benign
Select item 1332459	NM_000218.3(KCNQ1):c.478-7C>G	KCNQ1	Single nucleotide variant (intron variant)	Cardiac arrhythmia +1 more	GConflicting classifications of pathogenicity
Select item 1171887	NM_000218.3(KCNQ1):c.478-7C>T	KCNQ1	Single nucleotide variant (intron variant)	Cardiac arrhythmia	GLikely benign
Select item 926412	NM_000218.3(KCNQ1):c.483C>T (p.Ile161=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia +3 more	GLikely benign
Select item 67077	NM_000218.3(KCNQ1):c.484G>A (p.Val162Met)	KCNQ1 (V162M +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +4 more	GUncertain significance
Select item 922815	NM_000218.3(KCNQ1):c.491T>C (p.Val164Ala)	KCNQ1 (V164A +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 426347	NM_000218.3(KCNQ1):c.493G>A (p.Val165Met)	KCNQ1 (V165M +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 922039	NM_000218.3(KCNQ1):c.494T>C (p.Val165Ala)	KCNQ1 (V165A +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 927500	NM_000218.3(KCNQ1):c.498C>T (p.Phe166=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 701153	NM_000218.3(KCNQ1):c.501C>T (p.Phe167=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 53052	NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg)	KCNQ1 (G168R +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GPathogenic
Select item 405270	NM_000218.3(KCNQ1):c.506C>T (p.Thr169Met)	KCNQ1 (T169M +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +8 more	GUncertain significance
Select item 504601	NM_000218.3(KCNQ1):c.507G>A (p.Thr169=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia +2 more	GLikely benign
Select item 265209	NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter)	KCNQ1 (Y171* +2 more)	Single nucleotide variant (nonsense)	Long QT syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 178385	NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	not provided +8 more	GBenign/Likely benign
Select item 67078	NM_000218.3(KCNQ1):c.514G>A (p.Val172Met)	KCNQ1 (V172M +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +9 more	GConflicting classifications of pathogenicity
Select item 1171242	NM_000218.3(KCNQ1):c.519C>A (p.Val173=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 53058	NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)	KCNQ1 (R174C +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +8 more	GPathogenic/Likely pathogenic
Select item 527027	NM_000218.3(KCNQ1):c.525C>T (p.Leu175=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +1 more	GLikely benign
Select item 227463	NM_000218.3(KCNQ1):c.531C>T (p.Ser177=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +3 more	GLikely benign
Select item 53061	NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)	KCNQ1 (A178T +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 53063	NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser)	KCNQ1 (G179S +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 67079	NM_000218.3(KCNQ1):c.541C>T (p.Arg181Cys)	KCNQ1 (R181C +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +3 more	GUncertain significance
Select item 379632	NM_000218.3(KCNQ1):c.552C>T (p.Tyr184=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia +3 more	GBenign/Likely benign
Select item 1044083	NM_000218.3(KCNQ1):c.553G>C (p.Val185Leu)	KCNQ1 (V58L +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 919842	NM_000218.3(KCNQ1):c.553G>A (p.Val185Met)	KCNQ1 (V185M +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 207967	NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp)	KCNQ1 (G186D +2 more)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +3 more	GLikely pathogenic
Select item 163737	NM_000218.3(KCNQ1):c.567G>T (p.Gly189=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Jervell and Lange-Nielsen syndrome 1 +8 more	GBenign/Likely benign
Select item 67084	NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu)	KCNQ1 (R190L +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +5 more	GPathogenic/Likely pathogenic
Select item 3117	NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln)	KCNQ1 (R190Q +2 more)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +5 more	GPathogenic/Likely pathogenic
Select item 53072	NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)	KCNQ1 (R192fs +1 more)	Deletion (frameshift variant)	Long QT syndrome 1 +8 more	GPathogenic
Select item 920638	NM_000218.3(KCNQ1):c.573G>T (p.Leu191=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 578178	NM_000218.3(KCNQ1):c.574C>T (p.Arg192Cys)	KCNQ1 (R65C +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 67085	NM_000218.3(KCNQ1):c.575G>A (p.Arg192His)	KCNQ1 (R192H +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 920515	NM_000218.3(KCNQ1):c.576C>T (p.Arg192=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +2 more	GLikely benign
Select item 67087	NM_000218.3(KCNQ1):c.583C>T (p.Arg195Trp)	KCNQ1 (R195W +2 more)	Single nucleotide variant (missense variant)	Atrial fibrillation +9 more	GConflicting classifications of pathogenicity
Select item 67088	NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln)	KCNQ1 (R195Q +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +5 more	GConflicting classifications of pathogenicity
Select item 53076	NM_000218.3(KCNQ1):c.585del (p.Lys196fs)	KCNQ1 (K69fs +1 more)	Deletion (frameshift variant)	not provided +4 more	GPathogenic
Select item 191476	NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu)	KCNQ1 (P197L +2 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 2773464	NM_000218.3(KCNQ1):c.601A>G (p.Ile201Val)	KCNQ1 (I201V +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 629171	NM_000218.3(KCNQ1):c.603C>T (p.Ile201=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 53077	NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn)	KCNQ1 (D202N +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +9 more	GPathogenic/Likely pathogenic
Select item 926958	NM_000218.3(KCNQ1):c.604+1G>A	KCNQ1	Single nucleotide variant (splice donor variant +1 more)	Cardiac arrhythmia	GLikely pathogenic
Select item 1332048	NM_000218.3(KCNQ1):c.605-14C>T	KCNQ1	Single nucleotide variant (intron variant)	Cardiac arrhythmia	GUncertain significance
Select item 226686	NM_000218.3(KCNQ1):c.605-11G>A	KCNQ1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 703356	NM_000218.3(KCNQ1):c.618C>T (p.Val206=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 42492	NM_000218.3(KCNQ1):c.619G>A (p.Val207Met)	KCNQ1 (V207M +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 922727	NM_000218.3(KCNQ1):c.628A>G (p.Met210Val)	KCNQ1 (M210V +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 923241	NM_000218.3(KCNQ1):c.630G>A (p.Met210Ile)	KCNQ1 (M83I +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 264508	NM_000218.3(KCNQ1):c.642C>T (p.Cys214=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia +4 more	GBenign/Likely benign
Select item 53081	NM_000218.3(KCNQ1):c.643G>A (p.Val215Met)	KCNQ1 (V215M +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 413279	NM_000218.3(KCNQ1):c.648C>A (p.Gly216=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 925518	NM_000218.3(KCNQ1):c.653A>C (p.Lys218Thr)	KCNQ1 (K218T +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 927874	NM_000218.3(KCNQ1):c.658C>A (p.Gln220Lys)	KCNQ1 (Q220K +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 735771	NM_000218.3(KCNQ1):c.663G>A (p.Val221=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia +1 more	GLikely benign
Select item 67096	NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met)	KCNQ1 (T224M +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +3 more	GPathogenic/Likely pathogenic
Select item 385172	NM_000218.3(KCNQ1):c.672G>A (p.Thr224=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia +3 more	GLikely benign
Select item 53083	NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)	KCNQ1 (S225L +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +9 more	GPathogenic/Likely pathogenic
Select item 504602	NM_000218.3(KCNQ1):c.675G>A (p.Ser225=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 923951	NM_000218.3(KCNQ1):c.678C>G (p.Ala226=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 922731	NM_000218.3(KCNQ1):c.678C>T (p.Ala226=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2773465	NM_000218.3(KCNQ1):c.682A>C (p.Arg228=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 924982	NM_000218.3(KCNQ1):c.683+3G>A	KCNQ1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 922014	NM_000218.3(KCNQ1):c.683+4C>T	KCNQ1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 53084	NM_000218.3(KCNQ1):c.683+5G>A	KCNQ1	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 527102	NM_000218.3(KCNQ1):c.684-5C>T	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 924714	NM_000218.3(KCNQ1):c.684-4G>T	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome +1 more	GLikely benign
Select item 702842	NM_000218.3(KCNQ1):c.684-4G>A	KCNQ1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 2773466	NM_000218.3(KCNQ1):c.685G>A (p.Gly229Ser)	KCNQ1 (G102S +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 925699	NM_000218.3(KCNQ1):c.690C>A (p.Ile230=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 53086	NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys)	KCNQ1 (R231C +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GPathogenic/Likely pathogenic
Select item 1171337	NM_000218.3(KCNQ1):c.719A>G (p.His240Arg)	KCNQ1 (H113R +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 42493	NM_000218.3(KCNQ1):c.720C>T (p.His240=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Short QT syndrome type 2 +8 more	GBenign/Likely benign
Select item 629658	NM_000218.3(KCNQ1):c.723C>T (p.Val241=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia +2 more	GLikely benign
Select item 53091	NM_000218.3(KCNQ1):c.727C>T (p.Arg243Cys)	KCNQ1 (R243C +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 53092	NM_000218.3(KCNQ1):c.728G>A (p.Arg243His)	KCNQ1 (R243H +2 more)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome +4 more	GPathogenic/Likely pathogenic

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