"All of Us Research Program, National Institutes of Health"[submitter] - 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)	Long QT syndrome 1 +7 more	GConflicting classifications of pathogenicity
Select item 200872	NM_000218.3(KCNQ1):c.387-5T>A	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely pathogenic
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)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 456867	NM_000218.3(KCNQ1):c.396C>T (p.Ile132=)	KCNQ1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 67069	NM_000218.3(KCNQ1):c.397G>A (p.Val133Ile)	KCNQ1 (V133I +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GUncertain significance
Select item 3070401	NM_000218.3(KCNQ1):c.398T>C (p.Val133Ala)	KCNQ1 (V133A +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 67070	NM_000218.3(KCNQ1):c.401T>C (p.Leu134Pro)	KCNQ1 (L134P +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1545721	NM_000218.3(KCNQ1):c.408C>T (p.Cys136=)	KCNQ1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1631772	NM_000218.3(KCNQ1):c.411C>T (p.Leu137=)	KCNQ1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 633280	NM_000218.3(KCNQ1):c.420C>T (p.Ser140=)	KCNQ1	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +4 more	GLikely benign
Select item 163734	NM_000218.3(KCNQ1):c.435C>T (p.Ile145=)	KCNQ1	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 3 +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)	Long QT syndrome +2 more	GUncertain significance
Select item 418272	NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly)	KCNQ1 (E146G +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 67074	NM_000218.3(KCNQ1):c.440A>G (p.Gln147Arg)	KCNQ1 (Q147R +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 200909	NM_000218.3(KCNQ1):c.448G>A (p.Ala150Thr)	KCNQ1 (A150T +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +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)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 3073593	NM_000218.3(KCNQ1):c.469T>C (p.Phe157Leu)	KCNQ1 (F157L +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 664331	NM_000218.3(KCNQ1):c.475A>T (p.Met159Leu)	KCNQ1 (M159L +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 200874	NM_000218.3(KCNQ1):c.477+1G>A	KCNQ1	Single nucleotide variant (splice donor variant)	Cardiac arrhythmia +5 more	GPathogenic
Select item 53047	NM_000218.3(KCNQ1):c.477+5G>A	KCNQ1	Single nucleotide variant (intron variant)	not provided +6 more	GPathogenic
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 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)	not provided +4 more	GUncertain significance
Select item 3073055	NM_000218.3(KCNQ1):c.493G>C (p.Val165Leu)	KCNQ1 (V165L +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	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 2916016	NM_000218.3(KCNQ1):c.495G>A (p.Val165=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 701153	NM_000218.3(KCNQ1):c.501C>T (p.Phe167=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia +3 more	GLikely benign
Select item 53053	NM_000218.3(KCNQ1):c.502G>C (p.Gly168Arg)	KCNQ1 (G168R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 504601	NM_000218.3(KCNQ1):c.507G>A (p.Thr169=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	not specified +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 3069599	NM_000218.3(KCNQ1):c.519C>T (p.Val173=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 527027	NM_000218.3(KCNQ1):c.525C>T (p.Leu175=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia +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 877188	NM_000218.3(KCNQ1):c.534C>T (p.Ala178=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +5 more	GConflicting classifications of pathogenicity
Select item 53063	NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser)	KCNQ1 (G179S +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +5 more	GPathogenic
Select item 67079	NM_000218.3(KCNQ1):c.541C>T (p.Arg181Cys)	KCNQ1 (R181C +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 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 67082	NM_000218.3(KCNQ1):c.556G>A (p.Gly186Ser)	KCNQ1 (G186S +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 643351	NM_000218.3(KCNQ1):c.563G>C (p.Trp188Ser)	KCNQ1 (W188S +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3073690	NM_000218.3(KCNQ1):c.564G>C (p.Trp188Cys)	KCNQ1 (W188C +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 263738	NM_000218.3(KCNQ1):c.564G>A (p.Trp188Ter)	KCNQ1 (W188* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 53068	NM_000218.3(KCNQ1):c.566G>A (p.Gly189Glu)	KCNQ1 (G189E +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2905997	NM_000218.3(KCNQ1):c.567G>A (p.Gly189=)	KCNQ1	Single nucleotide variant (intron variant +1 more)	Long QT syndrome	GLikely benign
Select item 53070	NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp)	KCNQ1 (R190W +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 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 2050180	NM_000218.3(KCNQ1):c.573G>A (p.Leu191=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 578178	NM_000218.3(KCNQ1):c.574C>T (p.Arg192Cys)	KCNQ1 (R65C +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +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 +4 more	GConflicting classifications of pathogenicity
Select item 67087	NM_000218.3(KCNQ1):c.583C>T (p.Arg195Trp)	KCNQ1 (R195W +2 more)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 67088	NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln)	KCNQ1 (R195Q +2 more)	Single nucleotide variant (missense variant)	KCNQ1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 53076	NM_000218.3(KCNQ1):c.585del (p.Lys196fs)	KCNQ1 (K69fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +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 67089	NM_000218.3(KCNQ1):c.592A>G (p.Ile198Val)	KCNQ1 (I198V +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	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 3072247	NM_000218.3(KCNQ1):c.604+5G>A	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 703356	NM_000218.3(KCNQ1):c.618C>T (p.Val206=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +2 more	GLikely benign
Select item 3071669	NM_000218.3(KCNQ1):c.635T>C (p.Val212Ala)	KCNQ1 (V122A +2 more)	Single nucleotide variant (intron variant +1 more)	Long QT syndrome	GUncertain significance
Select item 264508	NM_000218.3(KCNQ1):c.642C>T (p.Cys214=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +4 more	GBenign/Likely benign
Select item 413279	NM_000218.3(KCNQ1):c.648C>A (p.Gly216=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia +7 more	GConflicting classifications of pathogenicity
Select item 927874	NM_000218.3(KCNQ1):c.658C>A (p.Gln220Lys)	KCNQ1 (Q220K +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GUncertain significance
Select item 3075125	NM_000218.3(KCNQ1):c.660G>T (p.Gln220His)	KCNQ1 (Q130H +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2816193	NM_000218.3(KCNQ1):c.661G>A (p.Val221Met)	KCNQ1 (V131M +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
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 1087809	NM_000218.3(KCNQ1):c.675G>C (p.Ser225=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 504602	NM_000218.3(KCNQ1):c.675G>A (p.Ser225=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia +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)	Cardiac arrhythmia +2 more	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)	Long QT syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 3074046	NM_000218.3(KCNQ1):c.684-7T>A	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 924714	NM_000218.3(KCNQ1):c.684-4G>T	KCNQ1	Single nucleotide variant (intron variant)	Cardiac arrhythmia +1 more	GLikely benign
Select item 53086	NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys)	KCNQ1 (R231C +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 3073819	NM_000218.3(KCNQ1):c.715C>G (p.Leu239Val)	KCNQ1 (L112V +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	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)	not provided +2 more	GLikely benign
Select item 527055	NM_000218.3(KCNQ1):c.729C>T (p.Arg243=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia +1 more	GLikely benign
Select item 289705	NM_000218.3(KCNQ1):c.759C>T (p.Ser253=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 925016	NM_000218.3(KCNQ1):c.774C>T (p.His258=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 3072137	NM_000218.3(KCNQ1):c.780G>C (p.Gln260His)	KCNQ1 (Q133H +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3070794	NM_000218.3(KCNQ1):c.781-8T>G	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 53104	NM_000218.3(KCNQ1):c.783G>C (p.Glu261Asp)	KCNQ1 (E261D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 53107	NM_000218.3(KCNQ1):c.796del (p.Leu266fs)	KCNQ1 (L139fs +1 more)	Deletion (frameshift variant)	Atrial fibrillation, familial, 3 +7 more	GPathogenic
Select item 53108	NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro)	KCNQ1 (L266P +2 more)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 3 +7 more	GPathogenic/Likely pathogenic
Select item 378922	NM_000218.3(KCNQ1):c.802A>G (p.Ile268Val)	KCNQ1 (I141V +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 1525380	NM_000218.3(KCNQ1):c.804C>A (p.Ile268=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 379083	NM_000218.3(KCNQ1):c.804C>T (p.Ile268=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia +3 more	GLikely benign
Select item 138001	NM_000218.3(KCNQ1):c.811C>T (p.Leu271=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Atrial fibrillation, familial, 3 +8 more	GConflicting classifications of pathogenicity
Select item 67109	NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val)	KCNQ1 (I274V +2 more)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 200823	NM_000218.3(KCNQ1):c.827C>T (p.Ser276Phe)	KCNQ1 (S149F +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3071644	NM_000218.3(KCNQ1):c.847G>A (p.Ala283Thr)	KCNQ1 (A156T +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 456871	NM_000218.3(KCNQ1):c.858C>T (p.Asp286=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia +4 more	GBenign/Likely benign
Select item 53119	NM_000218.3(KCNQ1):c.862_880del (p.Val288fs)	KCNQ1 (V161fs +1 more)	Deletion (frameshift variant)	Long QT syndrome +3 more	GPathogenic
Select item 657731	NM_000218.3(KCNQ1):c.859G>A (p.Ala287Thr)	KCNQ1 (A160T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 53118	NM_000218.3(KCNQ1):c.860C>A (p.Ala287Glu)	KCNQ1 (A287E +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 920703	NM_000218.3(KCNQ1):c.861G>A (p.Ala287=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia +3 more	GLikely benign
Select item 925091	NM_000218.3(KCNQ1):c.867C>T (p.Asn289=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 53120	NM_000218.3(KCNQ1):c.868G>A (p.Glu290Lys)	KCNQ1 (E290K +2 more)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 3 +8 more	GUncertain significance

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