ClinVar for PubMed (Select 27041150) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1415094	NM_000218.3(KCNQ1):c.1733-2A>G	KCNQ1	Single nucleotide variant (splice acceptor variant)	Long QT syndrome	GPathogenic
Select item 207974	NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His)	SCN5A (R1897H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 207973	NM_000218.3(KCNQ1):c.1686-2A>G	KCNQ1	Single nucleotide variant (splice acceptor variant)	Long QT syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 207972	NM_000218.3(KCNQ1):c.1480dup (p.Glu494fs)	KCNQ1, KCNQ1OT1 (E367fs +4 more)	Duplication (frameshift variant)	Long QT syndrome 1	GPathogenic
Select item 207971	NM_000218.3(KCNQ1):c.758C>G (p.Ser253Cys)	KCNQ1 (S126C +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GPathogenic
Select item 207970	NM_000218.3(KCNQ1):c.1733-1G>C	KCNQ1	Single nucleotide variant (splice acceptor variant)	Long QT syndrome +1 more	GPathogenic
Select item 207969	NM_000218.3(KCNQ1):c.443del (p.Tyr148fs)	KCNQ1 (Y148fs +1 more)	Deletion (frameshift variant)	Long QT syndrome +2 more	GPathogenic
Select item 207968	NM_000218.3(KCNQ1):c.1051T>C (p.Phe351Leu)	KCNQ1 (F224L +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 207967	NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp)	KCNQ1 (G186D +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GLikely pathogenic
Select item 200856	NM_000218.3(KCNQ1):c.1762A>T (p.Ile588Phe)	KCNQ1 (I461F +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 67651	NM_000335.5(SCN5A):c.1231G>A (p.Val411Met)	SCN5A (V411M)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 67336	NM_000238.4(KCNH2):c.1920C>A (p.Phe640Leu)	KCNH2 (F300L +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2	GPathogenic
Select item 67041	NM_000218.3(KCNQ1):c.1597C>T (p.Arg533Trp)	KCNQ1 (R533W +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 53133	NM_000218.3(KCNQ1):c.928G>A (p.Val310Ile)	KCNQ1 (V310I +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 53065	NM_000218.3(KCNQ1):c.556G>C (p.Gly186Arg)	KCNQ1 (G186R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 53063	NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser)	KCNQ1 (G179S +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +6 more	GPathogenic
Select item 53053	NM_000218.3(KCNQ1):c.502G>C (p.Gly168Arg)	KCNQ1 (G168R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 53052	NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg)	KCNQ1 (G168R +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +5 more	GPathogenic
Select item 53009	NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg)	KCNQ1 (G568R +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 3128	NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr)	KCNQ1 (A300T +2 more)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 1 +7 more	GConflicting classifications of pathogenicity
Select item 3117	NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln)	KCNQ1 (R190Q +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +5 more	GPathogenic/Likely pathogenic

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Items: 21