C1837014[trait identifier] AND "New York Genome Center"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2665045	NM_000218.3(KCNQ1):c.285C>G (p.Ser95Arg)	KCNQ1 (S95R)	Single nucleotide variant (missense variant +1 more)	Short QT syndrome type 2 +2 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 52953	NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)	KCNQ1 (K362R +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +23 more	GConflicting classifications of pathogenicity
Select item 2502213	NM_000218.3(KCNQ1):c.1090T>C (p.Phe364Leu)	KCNQ1 (F237L +2 more)	Single nucleotide variant (missense variant +1 more)	Atrial fibrillation, familial, 3 +3 more	GUncertain significance
Select item 52970	NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp)	KCNQ1 (R397W +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +11 more	GConflicting classifications of pathogenicity
Select item 52974	NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs)	KCNQ1 (F296fs +1 more)	Duplication (frameshift variant)	Atrial fibrillation, familial, 3 +9 more	GPathogenic/Likely pathogenic
Select item 67030	NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln)	KCNQ1 (R452Q +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +13 more	GConflicting classifications of pathogenicity
Select item 200813	NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile)	KCNQ1 (V449I +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +8 more	GConflicting classifications of pathogenicity
Select item 923134	NM_000218.3(KCNQ1):c.1924T>C (p.Cys642Arg)	KCNQ1, KCNQ1-AS1 (C515R +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +5 more	GUncertain significance