KCNQ1-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC111718490, LOC112067719 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	LOC130005104, LOC130005105 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	STIM1-AS1, SYT8 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 154397	GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1	ASCL2, BRSK2 +129 more	Copy number loss	See cases	GPathogenic
Select item 147689	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3	ASCL2, C11orf21 +115 more	Copy number gain	See cases	GPathogenic
Select item 147964	GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1	ASCL2, C11orf21 +83 more	Copy number loss	See cases	GUncertain significance
Select item 146876	GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3	ASCL2, C11orf21 +52 more	Copy number gain	See cases	GPathogenic
Select item 637974	NC_000011.10:g.(2662082_2768843)_(2778038_2847766)del	KCNQ1, KCNQ1-AS1 +4 more	Deletion	Long QT syndrome 1	GPathogenic
Select item 431379	NC_000011.9:g.(2683312_2790073)_(2799268_2868996)dup	KCNQ1-AS1, KCNQ1 +4 more	Duplication	Long QT syndrome 1	GLikely pathogenic
Select item 680963	NM_000218.3(KCNQ1):c.1795-298A>G	KCNQ1, KCNQ1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283162	NM_000218.3(KCNQ1):c.1795-249A>G	KCNQ1, KCNQ1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231618	NM_000218.3(KCNQ1):c.1795-129G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671899	NM_000218.3(KCNQ1):c.1795-119T>C	KCNQ1, KCNQ1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1613600	NM_000218.3(KCNQ1):c.1795-20G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 381368	NM_000218.3(KCNQ1):c.1795-17T>C	KCNQ1, KCNQ1-AS1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3070363	NM_000218.3(KCNQ1):c.1795-14C>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 3002132	NM_000218.3(KCNQ1):c.1795-14C>G	KCNQ1, KCNQ1-AS1	Single nucleotide variant (intron variant)	Long QT syndrome	GConflicting classifications of pathogenicity
Select item 919148	NM_000218.3(KCNQ1):c.1795-10G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (intron variant)	Long QT syndrome +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 456863	NM_000218.2(KCNQ1):c.1795_1803dup (p.Gln601_Leu602insValThrGln)	KCNQ1, KCNQ1-AS1	Duplication	Long QT syndrome	GUncertain significance
Select item 2076074	NM_000218.3(KCNQ1):c.1795-5C>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 163743	NM_000218.3(KCNQ1):c.1795-5C>T	KCNQ1, KCNQ1-AS1	Single nucleotide variant (intron variant)	Long QT syndrome +3 more	GLikely benign
Select item 227462	NM_000218.3(KCNQ1):c.1795-4G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (intron variant)	KCNQ1-related disorder +3 more	GLikely benign
Select item 2772134	NM_000218.3(KCNQ1):c.1795-3C>T	KCNQ1, KCNQ1-AS1	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 1185062	NM_000218.3(KCNQ1):c.1795-2A>G	KCNQ1, KCNQ1-AS1	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2709768	NM_000218.3(KCNQ1):c.1795G>C (p.Val599Leu)	KCNQ1, KCNQ1-AS1 (V419L +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 163744	NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=)	KCNQ1-AS1, KCNQ1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 200861	NM_000218.3(KCNQ1):c.1801C>T (p.Gln601Ter)	KCNQ1, KCNQ1-AS1 (Q474* +5 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3235891	NM_000218.3(KCNQ1):c.1812_*143del (p.Gln604_Ter677delinsXaa)	KCNQ1, KCNQ1-AS1	Deletion (stop lost)	Atrial fibrillation, familial, 3 +2 more	GLikely pathogenic
Select item 67058	NM_000218.3(KCNQ1):c.1805T>C (p.Leu602Pro)	KCNQ1-AS1, KCNQ1 (L602P +5 more)	Single nucleotide variant (missense variant)	Congenital long QT syndrome	Gnot provided
Select item 381973	NM_000218.3(KCNQ1):c.1806G>A (p.Leu602=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
Select item 928774	NM_000218.3(KCNQ1):c.1810dup (p.Gln604fs)	KCNQ1, KCNQ1-AS1 (Q604fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 840838	NM_000218.3(KCNQ1):c.1809C>A (p.Asp603Glu)	KCNQ1, KCNQ1-AS1 (D476E +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3071751	NM_000218.3(KCNQ1):c.1810C>G (p.Gln604Glu)	KCNQ1, KCNQ1-AS1 (Q108E +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 200862	NM_000218.3(KCNQ1):c.1811A>T (p.Gln604Leu)	KCNQ1, KCNQ1-AS1 (Q477L +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2087838	NM_000218.3(KCNQ1):c.1817T>A (p.Leu606Gln)	KCNQ1, KCNQ1-AS1 (L110Q +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3230635	NM_000218.3(KCNQ1):c.1818G>A (p.Leu606=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3073983	NM_000218.3(KCNQ1):c.1819G>A (p.Ala607Thr)	KCNQ1, KCNQ1-AS1 (A111T +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2587407	NM_000218.3(KCNQ1):c.1819G>T (p.Ala607Ser)	KCNQ1, KCNQ1-AS1 (A517S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3075204	NM_000218.3(KCNQ1):c.1822C>T (p.Leu608Phe)	KCNQ1, KCNQ1-AS1 (L112F +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 519360	NM_000218.3(KCNQ1):c.1822C>G (p.Leu608Val)	KCNQ1, KCNQ1-AS1 (L481V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 449200	NM_000218.3(KCNQ1):c.1823TCA[1] (p.Ile609del)	KCNQ1, KCNQ1-AS1 (I482del +5 more)	Microsatellite (inframe_indel +1 more)	Long QT syndrome +1 more	GUncertain significance
Select item 1780855	NM_000218.3(KCNQ1):c.1826T>A (p.Ile609Asn)	KCNQ1, KCNQ1-AS1 (I429N +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 519273	NM_000218.3(KCNQ1):c.1827C>T (p.Ile609=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
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 2905831	NM_000218.3(KCNQ1):c.1830C>G (p.Thr610=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
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 67060	NM_000218.3(KCNQ1):c.1831G>T (p.Asp611Tyr)	KCNQ1, KCNQ1-AS1 (D611Y +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	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 provided +5 more	GConflicting classifications of pathogenicity
Select item 237225	NM_000218.3(KCNQ1):c.1836G>A (p.Met612Ile)	KCNQ1, KCNQ1-AS1 (M485I +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
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 1003632	NM_000218.3(KCNQ1):c.1838T>C (p.Leu613Pro)	KCNQ1, KCNQ1-AS1 (L486P +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2981256	NM_000218.3(KCNQ1):c.1839T>A (p.Leu613=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 53020	NM_000218.3(KCNQ1):c.1842_1844del (p.His614del)	KCNQ1, KCNQ1-AS1 (H487del +5 more)	Deletion (inframe_deletion +1 more)	Cardiac arrhythmia	GPathogenic
Select item 1781167	NM_000218.3(KCNQ1):c.1841A>T (p.His614Leu)	KCNQ1, KCNQ1-AS1 (H118L +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3070450	NM_000218.3(KCNQ1):c.1844A>C (p.Gln615Pro)	KCNQ1-AS1, KCNQ1 (Q119P +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1355282	NM_000218.3(KCNQ1):c.1844A>G (p.Gln615Arg)	KCNQ1, KCNQ1-AS1 (Q488R +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1722278	NM_000218.3(KCNQ1):c.1845G>T (p.Gln615His)	KCNQ1, KCNQ1-AS1 (Q119H +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	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 2163559	NM_000218.3(KCNQ1):c.1849C>T (p.Leu617Phe)	KCNQ1, KCNQ1-AS1 (L121F +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 618185	NM_000218.3(KCNQ1):c.1851C>T (p.Leu617=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 2176093	NM_000218.3(KCNQ1):c.1854C>T (p.Ser618=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 53021	NM_000218.3(KCNQ1):c.1855T>A (p.Leu619Met)	KCNQ1-AS1, KCNQ1 (L619M +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +6 more	GUncertain significance
Select item 3074960	NM_000218.3(KCNQ1):c.1856T>C (p.Leu619Ser)	KCNQ1, KCNQ1-AS1 (L123S +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2174007	NM_000218.3(KCNQ1):c.1857G>A (p.Leu619=)	KCNQ1-AS1, KCNQ1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1332678	NM_000218.3(KCNQ1):c.1858C>G (p.His620Asp)	KCNQ1-AS1, KCNQ1 (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)	not provided +5 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)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 1781526	NM_000218.3(KCNQ1):c.1862G>A (p.Gly621Asp)	KCNQ1, KCNQ1-AS1 (G494D +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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)	Short QT syndrome type 2 +6 more	GUncertain significance
Select item 2846311	NM_000218.3(KCNQ1):c.1867A>G (p.Ser623Gly)	KCNQ1, KCNQ1-AS1 (S496G +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3073965	NM_000218.3(KCNQ1):c.1868G>T (p.Ser623Ile)	KCNQ1, KCNQ1-AS1 (S127I +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1306529	NM_000218.3(KCNQ1):c.1875dup (p.Gly626fs)	KCNQ1, KCNQ1-AS1 (G499fs +1 more)	Duplication (frameshift variant)	Long QT syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1302913	NM_000218.3(KCNQ1):c.1870A>G (p.Thr624Ala)	KCNQ1, KCNQ1-AS1 (T497A +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2773485	NM_000218.3(KCNQ1):c.1871C>T (p.Thr624Ile)	KCNQ1, KCNQ1-AS1 (T444I +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +1 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 2033370	NM_000218.3(KCNQ1):c.1872C>T (p.Thr624=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 731398	NM_000218.3(KCNQ1):c.1875C>G (p.Pro625=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 237226	NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +9 more	GConflicting classifications of pathogenicity
Select item 2855030	NM_000218.3(KCNQ1):c.1876G>C (p.Gly626Arg)	KCNQ1, KCNQ1-AS1 (G499R +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 53022	NM_000218.3(KCNQ1):c.1876G>A (p.Gly626Ser)	KCNQ1, KCNQ1-AS1 (G626S +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +4 more	GUncertain significance
Select item 2973634	NM_000218.3(KCNQ1):c.1877G>T (p.Gly626Val)	KCNQ1, KCNQ1-AS1 (G130V +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 695468	NM_000218.3(KCNQ1):c.1881C>T (p.Ser627=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +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)	Long QT syndrome 1 +4 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)	not specified +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)	not specified +10 more	GUncertain significance
Select item 1371827	NM_000218.3(KCNQ1):c.1886G>T (p.Gly629Val)	KCNQ1, KCNQ1-AS1 (G629V +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 53027	NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs)	KCNQ1, KCNQ1-AS1 (R505fs +1 more)	Duplication (frameshift variant)	Congenital long QT syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1146305	NM_000218.3(KCNQ1):c.1887C>T (p.Gly629=)	KCNQ1, KCNQ1-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 53026	NM_000218.3(KCNQ1):c.1893del (p.Arg632fs)	KCNQ1, KCNQ1-AS1 (R632fs +1 more)	Deletion (frameshift variant)	Cardiac arrhythmia +2 more	GPathogenic/Likely pathogenic
Select item 1915551	NM_000218.3(KCNQ1):c.1888C>A (p.Pro630Thr)	KCNQ1, KCNQ1-AS1 (P630T +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 666845	NM_000218.3(KCNQ1):c.1888C>T (p.Pro630Ser)	KCNQ1, KCNQ1-AS1 (P630S +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance

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