"Color Diagnostics, LLC DBA Color Health"[submitter] AND "KCNQ1-AS1"[g - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 919148	NM_000218.3(KCNQ1):c.1795-10G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (intron variant)	Cardiac arrhythmia +6 more	GLikely benign
Select item 924851	NM_000218.3(KCNQ1):c.1795-6C>T	KCNQ1, KCNQ1-AS1	Single nucleotide variant (intron variant)	Long QT syndrome +1 more	GLikely benign
Select item 163743	NM_000218.3(KCNQ1):c.1795-5C>T	KCNQ1, KCNQ1-AS1	Single nucleotide variant (intron variant)	Cardiac arrhythmia +2 more	GLikely benign
Select item 227462	NM_000218.3(KCNQ1):c.1795-4G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (intron variant)	Cardiac arrhythmia +2 more	GConflicting classifications of pathogenicity
Select item 923091	NM_000218.3(KCNQ1):c.1795G>T (p.Val599Leu)	KCNQ1, KCNQ1-AS1 (V472L +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 67057	NM_000218.3(KCNQ1):c.1799C>T (p.Thr600Met)	KCNQ1, KCNQ1-AS1 (T600M +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 163744	NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 3 +8 more	GConflicting classifications of pathogenicity
Select item 200863	NM_000218.3(KCNQ1):c.1829C>A (p.Thr610Asn)	KCNQ1, KCNQ1-AS1 (T483N +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 749619	NM_000218.3(KCNQ1):c.1830C>T (p.Thr610=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +6 more	GConflicting classifications of pathogenicity
Select item 67059	NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn)	KCNQ1, KCNQ1-AS1 (D611N +5 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 918696	NM_000218.3(KCNQ1):c.1837C>T (p.Leu613Phe)	KCNQ1, KCNQ1-AS1 (L613F +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 1781251	NM_000218.3(KCNQ1):c.1846C>T (p.Leu616=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +2 more	GLikely benign
Select item 618185	NM_000218.3(KCNQ1):c.1851C>T (p.Leu617=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1332678	NM_000218.3(KCNQ1):c.1858C>G (p.His620Asp)	KCNQ1, KCNQ1-AS1 (H493D +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 1332575	NM_000218.3(KCNQ1):c.1863_1877dup (p.Gly626_Ser627insGlySerThrProGly)	KCNQ1, KCNQ1-AS1	Duplication (inframe_insertion +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 138007	NM_000218.3(KCNQ1):c.1860C>T (p.His620=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome +4 more	GBenign/Likely benign
Select item 67061	NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser)	KCNQ1, KCNQ1-AS1 (G621S +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +8 more	GConflicting classifications of pathogenicity
Select item 2773485	NM_000218.3(KCNQ1):c.1871C>T (p.Thr624Ile)	KCNQ1, KCNQ1-AS1 (T444I +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 53023	NM_000218.3(KCNQ1):c.1876_1893del (p.Gly626_Pro631del)	KCNQ1-AS1, KCNQ1	Deletion (inframe_indel +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 731398	NM_000218.3(KCNQ1):c.1875C>G (p.Pro625=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +1 more	GLikely benign
Select item 237226	NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Short QT syndrome type 2 +8 more	GConflicting classifications of pathogenicity
Select item 53022	NM_000218.3(KCNQ1):c.1876G>A (p.Gly626Ser)	KCNQ1, KCNQ1-AS1 (G626S +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 695468	NM_000218.3(KCNQ1):c.1881C>T (p.Ser627=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
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 924651	NM_000218.3(KCNQ1):c.1884C>G (p.Gly628=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 390754	NM_000218.3(KCNQ1):c.1884C>T (p.Gly628=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +3 more	GLikely benign
Select item 427960	NM_000218.3(KCNQ1):c.1885G>A (p.Gly629Ser)	KCNQ1, KCNQ1-AS1 (G502S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GUncertain significance
Select item 53027	NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs)	KCNQ1, KCNQ1-AS1 (R505fs +1 more)	Duplication (frameshift variant)	Long QT syndrome +5 more	GPathogenic/Likely pathogenic
Select item 53026	NM_000218.3(KCNQ1):c.1893del (p.Arg632fs)	KCNQ1, KCNQ1-AS1 (R632fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 53025	NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)	KCNQ1, KCNQ1-AS1 (P631fs +1 more)	Deletion (frameshift variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 921848	NM_000218.3(KCNQ1):c.1892C>A (p.Pro631His)	KCNQ1, KCNQ1-AS1 (P631H +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 921471	NM_000218.3(KCNQ1):c.1892C>G (p.Pro631Arg)	KCNQ1, KCNQ1-AS1 (P631R +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 456864	NM_000218.3(KCNQ1):c.1902C>T (p.Gly634=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
Select item 67062	NM_000218.3(KCNQ1):c.1903G>A (p.Gly635Arg)	KCNQ1, KCNQ1-AS1 (G635R +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +9 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)	Polymorphic ventricular tachycardia +8 more	GUncertain significance
Select item 1128763	NM_000218.3(KCNQ1):c.1905G>A (p.Gly635=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 1171960	NM_000218.3(KCNQ1):c.1911C>T (p.His637=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 2773486	NM_000218.3(KCNQ1):c.1916C>T (p.Thr639Ile)	KCNQ1, KCNQ1-AS1 (T459I +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 926411	NM_000218.3(KCNQ1):c.1919A>T (p.Gln640Leu)	KCNQ1, KCNQ1-AS1 (Q513L +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 923134	NM_000218.3(KCNQ1):c.1924T>C (p.Cys642Arg)	KCNQ1-AS1, KCNQ1 (C515R +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +5 more	GUncertain significance
Select item 924413	NM_000218.3(KCNQ1):c.1925G>T (p.Cys642Phe)	KCNQ1, KCNQ1-AS1 (C515F +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 923591	NM_000218.3(KCNQ1):c.1926C>A (p.Cys642Ter)	KCNQ1, KCNQ1-AS1 (C642* +5 more)	Single nucleotide variant (nonsense)	Cardiac arrhythmia	GUncertain significance
Select item 237227	NM_000218.3(KCNQ1):c.1926C>T (p.Cys642=)	KCNQ1-AS1, KCNQ1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 36437	NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser)	KCNQ1, KCNQ1-AS1 (G516S +5 more)	Single nucleotide variant (missense variant)	Short QT syndrome type 2 +8 more	GBenign/Likely benign
Select item 923434	NM_000218.3(KCNQ1):c.1928G>A (p.Gly643Asp)	KCNQ1, KCNQ1-AS1 (G516D +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 386051	NM_000218.3(KCNQ1):c.1935C>T (p.Gly645=)	KCNQ1-AS1, KCNQ1	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
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 746861	NM_000218.3(KCNQ1):c.1938C>A (p.Gly646=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +2 more	GLikely benign
Select item 668962	NM_000218.3(KCNQ1):c.1938C>T (p.Gly646=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 36438	NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile)	KCNQ1, KCNQ1-AS1 (V521I +5 more)	Single nucleotide variant (missense variant)	Short QT syndrome type 2 +9 more	GBenign/Likely benign
Select item 138008	NM_000218.3(KCNQ1):c.1944C>T (p.Val648=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Short QT syndrome type 2 +7 more	GConflicting classifications of pathogenicity
Select item 925375	NM_000218.3(KCNQ1):c.1945G>A (p.Asp649Asn)	KCNQ1, KCNQ1-AS1 (D522N +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GConflicting classifications of pathogenicity
Select item 920715	NM_000218.3(KCNQ1):c.1951G>A (p.Glu651Lys)	KCNQ1, KCNQ1-AS1 (E651K +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 1783313	NM_000218.3(KCNQ1):c.1956C>T (p.Leu652=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
Select item 1157882	NM_000218.3(KCNQ1):c.1960C>T (p.Leu654=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 920513	NM_000218.3(KCNQ1):c.1968C>T (p.Ser656=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia	GLikely benign
Select item 218432	NM_000218.3(KCNQ1):c.1970A>G (p.Asn657Ser)	KCNQ1, KCNQ1-AS1 (N530S +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +3 more	GConflicting classifications of pathogenicity
Select item 1423005	NM_000218.3(KCNQ1):c.1978C>T (p.Pro660Ser)	KCNQ1, KCNQ1-AS1 (P533S +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 200864	NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter)	KCNQ1, KCNQ1-AS1 (Y535* +5 more)	Single nucleotide variant (nonsense)	KCNQ1-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 42489	NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=)	KCNQ1-AS1, KCNQ1	Single nucleotide variant (synonymous variant)	Short QT syndrome type 2 +9 more	GBenign
Select item 925142	NM_000218.3(KCNQ1):c.1998C>T (p.Thr666=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +1 more	GLikely benign
Select item 200865	NM_000218.3(KCNQ1):c.1999G>A (p.Val667Met)	KCNQ1, KCNQ1-AS1 (V540M +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 924776	NM_000218.3(KCNQ1):c.2007G>C (p.Arg669Ser)	KCNQ1, KCNQ1-AS1 (R542S +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 923275	NM_000218.3(KCNQ1):c.2009G>A (p.Arg670Lys)	KCNQ1, KCNQ1-AS1 (R543K +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 629475	NM_000218.3(KCNQ1):c.2011G>A (p.Gly671Ser)	KCNQ1, KCNQ1-AS1 (G671S +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 700686	NM_000218.3(KCNQ1):c.2016C>T (p.Pro672=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 450725	NM_000218.3(KCNQ1):c.2017G>A (p.Asp673Asn)	KCNQ1, KCNQ1-AS1 (D546N +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 1172315	NM_000218.3(KCNQ1):c.2020G>A (p.Glu674Lys)	KCNQ1, KCNQ1-AS1 (E547K +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1172042	NM_000218.3(KCNQ1):c.2028C>T (p.Ser676=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia	GLikely benign
Select item 1171329	NM_000218.3(KCNQ1):c.*2G>T	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Cardiac arrhythmia	GUncertain significance
Select item 1193163	NM_000218.3(KCNQ1):c.*7del	KCNQ1, KCNQ1-AS1	Deletion (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 918270	NM_000218.3(KCNQ1):c.*4G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Cardiac arrhythmia	GUncertain significance
Select item 919839	NM_000218.3(KCNQ1):c.*6G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Cardiac arrhythmia	GUncertain significance

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Items: 74