"Fulgent Genetics, Fulgent Genetics"[submitter] AND "KCNQ1"[gene] - ClinVar

Search results

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 304212	NM_000218.3(KCNQ1):c.-69G>A	KCNQ1	Single nucleotide variant (5 prime UTR variant)	Short QT syndrome type 2 +5 more	GUncertain significance
Select item 53028	NM_000218.3(KCNQ1):c.19C>T (p.Pro7Ser)	KCNQ1 (P7S)	Single nucleotide variant (missense variant)	Long QT syndrome +8 more	GConflicting classifications of pathogenicity
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 52982	NM_000218.3(KCNQ1):c.136G>A (p.Ala46Thr)	KCNQ1 (A46T)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 3 +8 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 449221	NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs)	KCNQ1 (P67fs)	Deletion (frameshift variant)	Long QT syndrome +7 more	GPathogenic/Likely pathogenic
Select item 53030	NM_000218.3(KCNQ1):c.202GCCGCGCCC[3] (p.68AAP[3])	KCNQ1	Microsatellite (inframe_insertion)	Atrial fibrillation, familial, 3 +7 more	GUncertain significance
Select item 3130	NM_000218.3(KCNQ1):c.202GCCGCGCCC[1] (p.68AAP[1])	KCNQ1	Microsatellite (inframe_deletion)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 53031	NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr)	KCNQ1 (P73T)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 200875	NM_000218.3(KCNQ1):c.242C>T (p.Pro81Leu)	KCNQ1 (P81L)	Single nucleotide variant (missense variant)	Short QT syndrome type 2 +7 more	GUncertain significance
Select item 200877	NM_000218.3(KCNQ1):c.296C>G (p.Pro99Arg)	KCNQ1 (P99R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 264125	NM_000218.3(KCNQ1):c.345G>A (p.Glu115=)	KCNQ1	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 3 +6 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 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 405270	NM_000218.3(KCNQ1):c.506C>T (p.Thr169Met)	KCNQ1 (T169M +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +8 more	GUncertain significance
Select item 53056	NM_000218.3(KCNQ1):c.513C>G (p.Tyr171Ter)	KCNQ1 (Y171* +2 more)	Single nucleotide variant (nonsense)	Atrial fibrillation, familial, 3 +6 more	GPathogenic
Select item 67078	NM_000218.3(KCNQ1):c.514G>A (p.Val172Met)	KCNQ1 (V172M +2 more)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 53058	NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)	KCNQ1 (R174C +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GPathogenic/Likely pathogenic
Select item 53059	NM_000218.3(KCNQ1):c.521G>A (p.Arg174His)	KCNQ1 (R174H +2 more)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 3 +7 more	GPathogenic/Likely pathogenic
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 578178	NM_000218.3(KCNQ1):c.574C>T (p.Arg192Cys)	KCNQ1 (R65C +2 more)	Single nucleotide variant (missense variant)	Short QT syndrome type 2 +8 more	GUncertain significance
Select item 67087	NM_000218.3(KCNQ1):c.583C>T (p.Arg195Trp)	KCNQ1 (R195W +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +9 more	GConflicting classifications of pathogenicity
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 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 178386	NM_000218.3(KCNQ1):c.604+12C>T	KCNQ1	Single nucleotide variant (intron variant)	not specified +6 more	GLikely benign
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 53083	NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)	KCNQ1 (S225L +2 more)	Single nucleotide variant (missense variant)	KCNQ1-related disorder +9 more	GPathogenic/Likely pathogenic
Select item 53087	NM_000218.3(KCNQ1):c.692G>A (p.Arg231His)	KCNQ1 (R231H +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic
Select item 53107	NM_000218.3(KCNQ1):c.796del (p.Leu266fs)	KCNQ1 (L139fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +7 more	GPathogenic
Select item 53108	NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro)	KCNQ1 (L266P +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 3144	NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser)	KCNQ1 (G269S +2 more)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic
Select item 53109	NM_000218.3(KCNQ1):c.815G>A (p.Gly272Asp)	KCNQ1 (G272D +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
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 53120	NM_000218.3(KCNQ1):c.868G>A (p.Glu290Lys)	KCNQ1 (E290K +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 53124	NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter)	KCNQ1 (W305* +2 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +9 more	GPathogenic
Select item 53126	NM_000218.3(KCNQ1):c.921+1G>T	KCNQ1	Single nucleotide variant (splice donor variant +1 more)	Atrial fibrillation, familial, 3 +7 more	GPathogenic/Likely pathogenic
Select item 53153	NM_000218.3(KCNQ1):c.998_999del (p.Ser333fs)	KCNQ1 (S206fs +1 more)	Microsatellite (frameshift variant)	Long QT syndrome +7 more	GPathogenic/Likely pathogenic
Select item 52930	NM_000218.3(KCNQ1):c.1014CTT[1] (p.Phe340del)	KCNQ1 (F340del +3 more)	Microsatellite (inframe_indel +1 more)	Atrial fibrillation, familial, 3 +7 more	GPathogenic
Select item 52950	NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter)	KCNQ1 (Q359* +2 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +8 more	GPathogenic
Select item 52953	NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)	KCNQ1 (K362R +2 more)	Single nucleotide variant (missense variant)	KCNQ1-related disorder +22 more	GPathogenic/Likely pathogenic
Select item 629754	NM_000218.3(KCNQ1):c.1109C>T (p.Ala370Val)	KCNQ1 (A243V +2 more)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 200811	NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +8 more	GBenign/Likely benign
Select item 200842	NM_000218.3(KCNQ1):c.1128+5G>A	KCNQ1	Single nucleotide variant (intron variant)	Long QT syndrome +9 more	GConflicting classifications of pathogenicity
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 919675	NM_000218.3(KCNQ1):c.1177A>G (p.Lys393Glu)	KCNQ1 (K266E +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +7 more	GUncertain significance
Select item 67021	NM_000218.3(KCNQ1):c.1193A>G (p.Lys398Arg)	KCNQ1 (K398R +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +7 more	GUncertain significance
Select item 228765	NM_000218.3(KCNQ1):c.1202G>A (p.Arg401Gln)	KCNQ1 (R274Q +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +6 more	GUncertain significance
Select item 919123	NM_000218.3(KCNQ1):c.1238A>G (p.Lys413Arg)	KCNQ1 (K413R +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 52974	NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs)	KCNQ1 (F296fs +1 more)	Duplication (frameshift variant)	Cardiovascular phenotype +9 more	GPathogenic/Likely pathogenic
Select item 378018	NM_000218.3(KCNQ1):c.1332G>A (p.Thr444=)	KCNQ1	Single nucleotide variant (synonymous variant)	not specified +9 more	GBenign/Likely benign
Select item 200846	NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn)	KCNQ1 (D319N +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +8 more	GConflicting classifications of pathogenicity
Select item 52978	NM_000218.3(KCNQ1):c.1343dup (p.Glu449fs)	KCNQ1 (E449fs +1 more)	Duplication (frameshift variant)	Cardiovascular phenotype +8 more	GPathogenic
Select item 374106	NM_000218.3(KCNQ1):c.1349A>G (p.Glu450Gly)	KCNQ1 (E323G +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +7 more	GUncertain significance
Select item 67028	NM_000218.3(KCNQ1):c.1351C>T (p.Arg451Trp)	KCNQ1 (R451W +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +8 more	GUncertain significance
Select item 52980	NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp)	KCNQ1 (R452W +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 67030	NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln)	KCNQ1 (R452Q +4 more)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +13 more	GConflicting classifications of pathogenicity
Select item 628913	NM_000218.3(KCNQ1):c.1377C>T (p.Asp459=)	KCNQ1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GLikely benign
Select item 413280	NM_000218.3(KCNQ1):c.1431C>T (p.Pro477=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
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 516127	NM_000218.3(KCNQ1):c.1458C>T (p.Ala486=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +8 more	GLikely benign
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 519296	NM_000218.3(KCNQ1):c.1520G>A (p.Arg507Gln)	KCNQ1 (R380Q +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +7 more	GUncertain significance
Select item 67036	NM_000218.3(KCNQ1):c.1553G>A (p.Arg518Gln)	KCNQ1 (R518Q +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +9 more	GUncertain significance
Select item 67037	NM_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys)	KCNQ1 (R519C +4 more)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 52996	NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)	KCNQ1 (Q530* +4 more)	Single nucleotide variant (nonsense)	KCNQ1-related disorder +9 more	GPathogenic
Select item 52998	NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp)	KCNQ1 (R539W +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 53003	NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His)	KCNQ1 (R555H +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +8 more	GPathogenic/Likely pathogenic
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 53006	NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)	KCNQ1 (S566F +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 53009	NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg)	KCNQ1 (G568R +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +7 more	GPathogenic/Likely pathogenic
Select item 3142	NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)	KCNQ1 (R583C +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 138005	NM_000218.3(KCNQ1):c.1749C>T (p.Arg583=)	KCNQ1	Single nucleotide variant (synonymous variant)	Jervell and Lange-Nielsen syndrome +12 more	GBenign/Likely benign
Select item 67054	NM_000218.3(KCNQ1):c.1750G>A (p.Gly584Ser)	KCNQ1 (G584S +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)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 53018	NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)	KCNQ1 (R594Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GPathogenic/Likely pathogenic
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 67061	NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser)	KCNQ1, KCNQ1-AS1 (G621S +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +8 more	GConflicting classifications of pathogenicity
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 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 53025	NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)	KCNQ1, KCNQ1-AS1 (P631fs +1 more)	Deletion (frameshift variant)	Long QT syndrome +8 more	GPathogenic/Likely pathogenic
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 67062	NM_000218.3(KCNQ1):c.1903G>A (p.Gly635Arg)	KCNQ1, KCNQ1-AS1 (G635R +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +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 927553	NM_000218.3(KCNQ1):c.1936G>A (p.Gly646Ser)	KCNQ1, KCNQ1-AS1 (G646S +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +7 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 84