ClinVar for MedGen (Select 1646925) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335922	NM_000218.3(KCNQ1):c.210del (p.Ala71fs)	KCNQ1 (A71fs)	Deletion (frameshift variant +1 more)	Jervell and Lange-Nielsen syndrome 1	GLikely pathogenic
Select item 2502213	NM_000218.3(KCNQ1):c.1090T>C (p.Phe364Leu)	KCNQ1 (F237L +2 more)	Single nucleotide variant (missense variant +1 more)	Atrial fibrillation, familial, 3 +3 more	GUncertain significance
Select item 2500049	NM_000218.3(KCNQ1):c.387-6394G>C	KCNQ1 (S27T)	Single nucleotide variant (missense variant +1 more)	Atrial fibrillation, familial, 3 +3 more	GUncertain significance
Select item 1625459	NM_000218.3(KCNQ1):c.1686-18C>G	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome +5 more	GLikely benign
Select item 1452627	NM_000218.3(KCNQ1):c.771_775dup (p.Arg259fs)	KCNQ1 (R132fs +1 more)	Duplication (frameshift variant)	Long QT syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 1443548	NM_000218.3(KCNQ1):c.1501A>G (p.Thr501Ala)	KCNQ1, KCNQ1OT1 (T501A +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GUncertain significance
Select item 1339593	NM_000218.3(KCNQ1):c.1106C>T (p.Pro369Leu)	KCNQ1 (P242L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1309157	NM_000218.3(KCNQ1):c.559C>T (p.Leu187Phe)	KCNQ1 (L187F +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 1185062	NM_000218.3(KCNQ1):c.1795-2A>G	KCNQ1, KCNQ1-AS1	Single nucleotide variant (splice acceptor variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1058075	NM_000218.3(KCNQ1):c.187C>T (p.Pro63Ser)	KCNQ1 (P63S)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 983505	NM_000218.3(KCNQ1):c.1686-9T>C	KCNQ1	Single nucleotide variant (intron variant)	Jervell and Lange-Nielsen syndrome 1	GLikely pathogenic
Select item 979114	NM_000218.3(KCNQ1):c.1882G>A (p.Gly628Ser)	KCNQ1, KCNQ1-AS1 (G501S +5 more)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 979113	NM_000218.3(KCNQ1):c.26G>C (p.Arg9Thr)	KCNQ1 (R9T)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 1 +1 more	GUncertain significance
Select item 976086	NM_000218.3(KCNQ1):c.1667_1679del (p.Ile556fs)	KCNQ1 (I429fs +1 more)	Deletion (frameshift variant)	Jervell and Lange-Nielsen syndrome 1	GUncertain significance
Select item 970638	NM_000218.3(KCNQ1):c.1864G>A (p.Gly622Ser)	KCNQ1, KCNQ1-AS1 (G495S +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +6 more	GUncertain significance
Select item 933445	NM_000218.3(KCNQ1):c.197C>A (p.Ser66Tyr)	KCNQ1 (S66Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 927553	NM_000218.3(KCNQ1):c.1936G>A (p.Gly646Ser)	KCNQ1, KCNQ1-AS1 (G646S +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +7 more	GConflicting classifications of pathogenicity
Select item 925996	NM_000218.3(KCNQ1):c.1456G>A (p.Ala486Thr)	KCNQ1, KCNQ1OT1 (A359T +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +8 more	GConflicting classifications of pathogenicity
Select item 923836	NM_000218.3(KCNQ1):c.860C>T (p.Ala287Val)	KCNQ1 (A160V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 923807	NM_000218.3(KCNQ1):c.1904G>A (p.Gly635Glu)	KCNQ1, KCNQ1-AS1 (G635E +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +8 more	GUncertain significance
Select item 923600	NM_000218.3(KCNQ1):c.1765G>A (p.Gly589Ser)	KCNQ1 (G462S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 923134	NM_000218.3(KCNQ1):c.1924T>C (p.Cys642Arg)	KCNQ1-AS1, KCNQ1 (C515R +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GUncertain significance
Select item 919675	NM_000218.3(KCNQ1):c.1177A>G (p.Lys393Glu)	KCNQ1 (K266E +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +7 more	GUncertain significance
Select item 919148	NM_000218.3(KCNQ1):c.1795-10G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (intron variant)	Long QT syndrome 1 +6 more	GLikely benign
Select item 919123	NM_000218.3(KCNQ1):c.1238A>G (p.Lys413Arg)	KCNQ1 (K413R +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +7 more	GUncertain significance
Select item 880424	NM_000218.3(KCNQ1):c.*730C>T	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 1 +3 more	GUncertain significance
Select item 880340	NM_000218.3(KCNQ1):c.*295G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 1 +3 more	GUncertain significance
Select item 880306	NM_000218.3(KCNQ1):c.*125C>T	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome 1 +3 more	GUncertain significance
Select item 880305	NM_000218.3(KCNQ1):c.*81C>T	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 880151	NM_000218.3(KCNQ1):c.1394-13A>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	Cardiac arrhythmia +4 more	GConflicting classifications of pathogenicity
Select item 879674	NM_000218.3(KCNQ1):c.780+12G>A	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 879571	NM_000218.3(KCNQ1):c.187C>A (p.Pro63Thr)	KCNQ1 (P63T)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +4 more	GUncertain significance
Select item 879136	NM_000218.3(KCNQ1):c.*290A>G	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome 1 +3 more	GUncertain significance
Select item 879081	NM_000218.3(KCNQ1):c.*66C>T	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 1 +3 more	GUncertain significance
Select item 879033	NM_000218.3(KCNQ1):c.1895G>A (p.Arg632Lys)	KCNQ1, KCNQ1-AS1 (R505K +5 more)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 1 +3 more	GUncertain significance
Select item 878979	NM_000218.3(KCNQ1):c.1590+13C>A	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome 1 +3 more	GUncertain significance
Select item 878544	NM_000218.3(KCNQ1):c.*240C>T	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 2 +3 more	GUncertain significance
Select item 878293	NM_000218.3(KCNQ1):c.921+12A>G	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 878224	NM_000218.3(KCNQ1):c.684-15C>G	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome 1 +3 more	GUncertain significance
Select item 877952	NM_000218.3(KCNQ1):c.-55G>C	KCNQ1	Single nucleotide variant (5 prime UTR variant)	not provided +4 more	GUncertain significance
Select item 877624	NM_000218.3(KCNQ1):c.*632C>T	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 2 +3 more	GBenign/Likely 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 877124	NM_000218.3(KCNQ1):c.387-12C>T	KCNQ1	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 3 +3 more	GUncertain significance
Select item 842623	NM_000218.3(KCNQ1):c.1150G>A (p.Ala384Thr)	KCNQ1 (A384T +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GUncertain significance
Select item 804969	NM_000218.3(KCNQ1):c.41G>T (p.Arg14Leu)	KCNQ1 (R14L)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +7 more	GUncertain significance
Select item 749619	NM_000218.3(KCNQ1):c.1830C>T (p.Thr610=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 629754	NM_000218.3(KCNQ1):c.1109C>T (p.Ala370Val)	KCNQ1 (A243V +2 more)	Single nucleotide variant (missense variant)	Atrial fibrillation +9 more	GConflicting classifications of pathogenicity
Select item 628913	NM_000218.3(KCNQ1):c.1377C>T (p.Asp459=)	KCNQ1	Single nucleotide variant (synonymous variant)	Jervell and Lange-Nielsen syndrome 1 +7 more	GLikely benign
Select item 628813	NM_000218.3(KCNQ1):c.1375G>A (p.Asp459Asn)	KCNQ1 (D332N +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +7 more	GConflicting classifications of pathogenicity
Select item 578178	NM_000218.3(KCNQ1):c.574C>T (p.Arg192Cys)	KCNQ1 (R65C +2 more)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 1 +8 more	GUncertain significance
Select item 519296	NM_000218.3(KCNQ1):c.1520G>A (p.Arg507Gln)	KCNQ1 (R380Q +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +7 more	GUncertain significance
Select item 517664	NM_000218.3(KCNQ1):c.1732+5del	KCNQ1	Deletion (intron variant)	Jervell and Lange-Nielsen syndrome 1	GPathogenic
Select item 516127	NM_000218.3(KCNQ1):c.1458C>T (p.Ala486=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (synonymous variant)	Long QT syndrome 1 +8 more	GLikely benign
Select item 496690	NM_000218.3(KCNQ1):c.1426_1429del (p.Met476fs)	KCNQ1, KCNQ1OT1 (M349fs +4 more)	Deletion (frameshift variant)	Jervell and Lange-Nielsen syndrome 1	GPathogenic
Select item 456868	NM_000218.3(KCNQ1):c.644T>G (p.Val215Gly)	KCNQ1 (V215G +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +6 more	GConflicting classifications of pathogenicity
Select item 456865	NM_000218.3(KCNQ1):c.1906dup (p.Ala636fs)	KCNQ1, KCNQ1-AS1 (A509fs +1 more)	Duplication (frameshift variant)	Cardiac arrhythmia +6 more	GUncertain significance
Select item 449221	NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs)	KCNQ1 (P67fs)	Deletion (frameshift variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 438610	NM_000218.3(KCNQ1):c.733_734del (p.Gly245fs)	KCNQ1 (G118fs +1 more)	Deletion (frameshift variant)	Abnormality of the cardiovascular system	GPathogenic
Select item 430941	NM_000218.3(KCNQ1):c.1534del (p.Ala512fs)	KCNQ1 (A385fs +1 more)	Deletion (frameshift variant)	Jervell and Lange-Nielsen syndrome 1	GPathogenic
Select item 427960	NM_000218.3(KCNQ1):c.1885G>A (p.Gly629Ser)	KCNQ1, KCNQ1-AS1 (G502S +5 more)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
Select item 426347	NM_000218.3(KCNQ1):c.493G>A (p.Val165Met)	KCNQ1 (V165M +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +8 more	GUncertain significance
Select item 413280	NM_000218.3(KCNQ1):c.1431C>T (p.Pro477=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (synonymous variant)	Long QT syndrome +8 more	GBenign/Likely benign
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 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 405257	NM_000218.3(KCNQ1):c.899C>A (p.Ala300Glu)	KCNQ1 (A300E +2 more)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 378018	NM_000218.3(KCNQ1):c.1332G>A (p.Thr444=)	KCNQ1	Single nucleotide variant (synonymous variant)	Long QT syndrome +9 more	GBenign/Likely benign
Select item 378011	NM_000218.3(KCNQ1):c.386+14C>T	KCNQ1	Single nucleotide variant (intron variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 375455	NM_000218.3(KCNQ1):c.115G>T (p.Glu39Ter)	KCNQ1 (E39*)	Single nucleotide variant (nonsense)	Jervell and Lange-Nielsen syndrome 1	GPathogenic
Select item 374106	NM_000218.3(KCNQ1):c.1349A>G (p.Glu450Gly)	KCNQ1 (E323G +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +7 more	GUncertain significance
Select item 304272	NM_000218.3(KCNQ1):c.*1088G>C	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 2 +4 more	GUncertain significance
Select item 304271	NM_000218.3(KCNQ1):c.*1055C>T	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +4 more	GUncertain significance
Select item 304270	NM_000218.3(KCNQ1):c.*1025G>C	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 3 +4 more	GConflicting classifications of pathogenicity
Select item 304269	NM_000218.3(KCNQ1):c.*975C>T	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 3 +4 more	GLikely benign
Select item 304268	NM_000218.3(KCNQ1):c.*932A>G	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +6 more	GBenign
Select item 304267	NM_000218.3(KCNQ1):c.*904T>C	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 3 +4 more	GConflicting classifications of pathogenicity
Select item 304263	NM_000218.3(KCNQ1):c.*877C>G	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 2 +4 more	GUncertain significance
Select item 304262	NM_000218.3(KCNQ1):c.*875A>G	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +6 more	GBenign
Select item 304261	NM_000218.3(KCNQ1):c.*837G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 304260	NM_000218.3(KCNQ1):c.*806C>T	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 3 +4 more	GBenign/Likely benign
Select item 304259	NM_000218.3(KCNQ1):c.*742G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 3 +5 more	GBenign/Likely benign
Select item 304258	NM_000218.3(KCNQ1):c.*731G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome 1 +5 more	GBenign/Likely benign
Select item 304257	NM_000218.3(KCNQ1):c.*717T>G	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 3 +4 more	GConflicting classifications of pathogenicity
Select item 304256	NM_000218.3(KCNQ1):c.*712G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 2 +4 more	GUncertain significance
Select item 304255	NM_000218.3(KCNQ1):c.*652G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 2 +4 more	GUncertain significance
Select item 304254	NM_000218.3(KCNQ1):c.*633G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 2 +4 more	GUncertain significance
Select item 304253	NM_000218.3(KCNQ1):c.*581T>C	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 2 +4 more	GUncertain significance
Select item 304251	NM_000218.3(KCNQ1):c.*539G>C	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 2 +4 more	GUncertain significance
Select item 304250	NM_000218.3(KCNQ1):c.*482G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 3 +5 more	GBenign/Likely benign
Select item 304249	NM_000218.3(KCNQ1):c.*479G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 2 +6 more	GBenign
Select item 304248	NM_000218.3(KCNQ1):c.*464G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +5 more	GBenign/Likely benign
Select item 304247	NM_000218.3(KCNQ1):c.*411C>T	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 2 +5 more	GBenign/Likely benign
Select item 304245	NM_000218.3(KCNQ1):c.*392A>C	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 2 +4 more	GUncertain significance
Select item 304244	NM_000218.3(KCNQ1):c.*391G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 2 +4 more	GConflicting classifications of pathogenicity
Select item 304242	NM_000218.3(KCNQ1):c.*350G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 2 +5 more	GBenign/Likely benign
Select item 304241	NM_000218.3(KCNQ1):c.*305A>C	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 2 +4 more	GBenign/Likely benign
Select item 304239	NM_000218.3(KCNQ1):c.*266G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 3 +4 more	GConflicting classifications of pathogenicity
Select item 304238	NM_000218.3(KCNQ1):c.*264T>C	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +5 more	GBenign/Likely benign
Select item 304236	NM_000218.3(KCNQ1):c.*219G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +5 more	GBenign/Likely benign
Select item 304235	NM_000218.3(KCNQ1):c.*171G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 3 +4 more	GUncertain significance
Select item 304233	NM_000218.3(KCNQ1):c.*47A>C	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 3 +4 more	GUncertain significance

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