ClinVar for MedGen (Select 5929) - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075923	NM_000218.3(KCNQ1):c.1732+1G>T	KCNQ1	Single nucleotide variant (splice donor variant)	Jervell and Lange-Nielsen syndrome	GLikely pathogenic
Select item 405268	NM_000218.3(KCNQ1):c.1175G>A (p.Trp392Ter)	KCNQ1 (W392* +4 more)	Single nucleotide variant (nonsense)	Long QT syndrome +1 more	GPathogenic
Select item 369361	NM_000219.5(KCNE1):c.-628A>G	KCNE1	Single nucleotide variant	Congenital long QT syndrome +2 more	GLikely benign
Select item 339791	NM_000219.5(KCNE1):c.-605G>A	KCNE1	Single nucleotide variant	Jervell and Lange-Nielsen syndrome +2 more	GUncertain significance
Select item 339790	NM_000219.5(KCNE1):c.-577C>T	KCNE1	Single nucleotide variant	Jervell and Lange-Nielsen syndrome +2 more	GBenign
Select item 339789	NM_000219.5(KCNE1):c.-561C>T	KCNE1	Single nucleotide variant	Congenital long QT syndrome +2 more	GUncertain significance
Select item 339770	NM_000219.6(KCNE1):c.*91del	KCNE1	Deletion (3 prime UTR variant)	Long QT syndrome +2 more	GUncertain significance
Select item 339763	NM_000219.6(KCNE1):c.*457G>A	KCNE1	Single nucleotide variant (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome 2 +4 more	GUncertain significance
Select item 339756	NM_000219.6(KCNE1):c.*946del	KCNE1	Deletion (3 prime UTR variant)	Long QT syndrome +2 more	GLikely benign
Select item 339750	NM_000219.6(KCNE1):c.1226_1229del	KCNE1	Deletion (3 prime UTR variant)	not provided +3 more	GLikely benign
Select item 339746	NM_000219.6(KCNE1):c.*1547dup	KCNE1	Duplication (3 prime UTR variant)	not provided +3 more	GBenign
Select item 339743	NM_000219.6(KCNE1):c.*1583A>C	KCNE1	Single nucleotide variant (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome 2 +4 more	GUncertain significance
Select item 304266	NM_000218.3(KCNQ1):c.*897G>T	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome +4 more	GUncertain significance
Select item 304265	NM_000218.3(KCNQ1):c.*889AAT[1]	KCNQ1, KCNQ1-AS1	Microsatellite (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome +4 more	GLikely benign
Select item 304264	NM_000218.3(KCNQ1):c.887_889del	KCNQ1, KCNQ1-AS1	Deletion (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome +4 more	GUncertain significance
Select item 304252	NM_000218.3(KCNQ1):c.*554T>G	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +4 more	GUncertain significance
Select item 304246	NM_000218.3(KCNQ1):c.*398C>T	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome +4 more	GUncertain significance
Select item 304243	NM_000218.3(KCNQ1):c.*377del	KCNQ1, KCNQ1-AS1	Deletion (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome +4 more	GBenign/Likely benign
Select item 304240	NM_000218.3(KCNQ1):c.*292C>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +4 more	GUncertain significance
Select item 304237	NM_000218.3(KCNQ1):c.*241G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Familial atrial fibrillation +4 more	GLikely benign
Select item 304234	NM_000218.3(KCNQ1):c.*160C>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +4 more	GUncertain significance
Select item 304232	NM_000218.3(KCNQ1):c.*26C>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +4 more	GUncertain significance
Select item 304231	NM_000218.3(KCNQ1):c.1979C>A (p.Pro660His)	KCNQ1, KCNQ1-AS1 (P533H +5 more)	Single nucleotide variant (missense variant)	Short QT syndrome +4 more	GUncertain significance
Select item 304230	NM_000218.3(KCNQ1):c.1973C>A (p.Thr658Asn)	KCNQ1, KCNQ1-AS1 (T658N +5 more)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome +4 more	GUncertain significance
Select item 304228	NM_000218.3(KCNQ1):c.1514+4974G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	Congenital long QT syndrome +5 more	GLikely benign
Select item 304226	NM_000218.3(KCNQ1):c.1514+3G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	Long QT syndrome +7 more	GConflicting classifications of pathogenicity
Select item 304225	NM_000218.3(KCNQ1):c.1393+31361T>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	Familial atrial fibrillation +4 more	GBenign
Select item 304224	NM_000218.3(KCNQ1):c.1393+28111T>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	Familial atrial fibrillation +4 more	GBenign
Select item 304223	NM_000218.3(KCNQ1):c.1393+22646C>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	Familial atrial fibrillation +4 more	GLikely benign
Select item 304222	NM_000218.3(KCNQ1):c.1393+21538C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	Familial atrial fibrillation +4 more	GLikely benign
Select item 304221	NM_000218.3(KCNQ1):c.1393+21526C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	Familial atrial fibrillation +4 more	GLikely benign
Select item 304220	NM_000218.3(KCNQ1):c.1251+13C>T	KCNQ1	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 304218	NM_000218.3(KCNQ1):c.781-6G>T	KCNQ1	Single nucleotide variant (intron variant)	Jervell and Lange-Nielsen syndrome +4 more	GUncertain significance
Select item 304217	NM_000218.3(KCNQ1):c.650C>T (p.Ser217Phe)	KCNQ1 (S217F +2 more)	Single nucleotide variant (missense variant)	Short QT syndrome +4 more	GUncertain significance
Select item 304215	NM_000218.3(KCNQ1):c.66C>T (p.Gly22=)	KCNQ1	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +4 more	GUncertain significance
Select item 304214	NM_000218.3(KCNQ1):c.29C>A (p.Ala10Asp)	KCNQ1 (A10D)	Single nucleotide variant (missense variant)	Familial atrial fibrillation +4 more	GUncertain significance
Select item 200891	NM_000218.3(KCNQ1):c.403del (p.Val135fs)	KCNQ1 (V135fs +1 more)	Deletion (frameshift variant)	Jervell and Lange-Nielsen syndrome +3 more	GPathogenic/Likely pathogenic
Select item 189232	NM_000218.3(KCNQ1):c.826del (p.Ser276fs)	KCNQ1 (S149fs +1 more)	Deletion (frameshift variant)	Jervell and Lange-Nielsen syndrome +1 more	GLikely pathogenic
Select item 138005	NM_000218.3(KCNQ1):c.1749C>T (p.Arg583=)	KCNQ1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +12 more	GBenign/Likely benign
Select item 67030	NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln)	KCNQ1 (R452Q +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +13 more	GConflicting classifications of pathogenicity
Select item 53092	NM_000218.3(KCNQ1):c.728G>A (p.Arg243His)	KCNQ1 (R243H +2 more)	Single nucleotide variant (missense variant)	KCNQ1-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 53077	NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn)	KCNQ1 (D202N +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +9 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 53050	NM_000218.3(KCNQ1):c.488del (p.Leu163fs)	KCNQ1 (L36fs)	Deletion (frameshift variant)	Long QT syndrome 1 +6 more	GPathogenic/Likely pathogenic
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 52970	NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp)	KCNQ1 (R397W +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +11 more	GConflicting classifications of pathogenicity
Select item 42491	NM_000218.3(KCNQ1):c.478-8C>T	KCNQ1	Single nucleotide variant (intron variant)	Familial atrial fibrillation +6 more	GBenign/Likely benign
Select item 13477	NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)	KCNE1 (D76N)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome +8 more	GConflicting classifications of pathogenicity

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Items: 48