"Fulgent Genetics, Fulgent Genetics"[submitter] AND "KCNQ1-AS1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 919148	NM_000218.3(KCNQ1):c.1795-10G>A	KCNQ1, KCNQ1-AS1	Single nucleotide variant (intron variant)	Cardiac arrhythmia +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 1 +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)	Short QT syndrome type 2 +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)	not specified +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)	Beckwith-Wiedemann syndrome +9 more	GPathogenic/Likely pathogenic
Select item 456865	NM_000218.3(KCNQ1):c.1906dup (p.Ala636fs)	KCNQ1, KCNQ1-AS1 (A509fs +1 more)	Duplication (frameshift variant)	Atrial fibrillation, familial, 3 +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)	Jervell and Lange-Nielsen syndrome 1 +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)	Cardiovascular phenotype +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)	Long QT syndrome +7 more	GConflicting classifications of pathogenicity