C4551509[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3130	NM_000218.3(KCNQ1):c.202GCCGCGCCC[1] (p.68AAP[1])	KCNQ1	Microsatellite (inframe_deletion)	Short QT syndrome type 2 +7 more	GUncertain significance
Select item 53045	NM_000218.3(KCNQ1):c.451_452del (p.Leu151fs)	KCNQ1 (L151fs +1 more)	Deletion (frameshift variant)	Long QT syndrome +1 more	GPathogenic
Select item 53069	NM_000218.3(KCNQ1):c.567dup (p.Arg190fs)	KCNQ1 (R190fs +1 more)	Duplication (frameshift variant)	Long QT syndrome 1 +3 more	GPathogenic
Select item 53087	NM_000218.3(KCNQ1):c.692G>A (p.Arg231His)	KCNQ1 (R231H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GPathogenic
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 3128	NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr)	KCNQ1 (A300T +2 more)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 3 +7 more	GConflicting classifications of pathogenicity
Select item 3127	NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser)	KCNQ1 (W305S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 3131	NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)	KCNQ1 (R518* +4 more)	Single nucleotide variant (nonsense)	Conduction disorder of the heart +8 more	GPathogenic
Select item 52999	NM_000218.3(KCNQ1):c.1630_1635delinsGTTGAGA (p.Gln544fs)	KCNQ1 (Q417fs +1 more)	Indel (frameshift variant)	Jervell and Lange-Nielsen syndrome 1	GPathogenic
Select item 3142	NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)	KCNQ1 (R583C +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 3138	NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met)	KCNQ1 (T587M +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic
Select item 3140	NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp)	KCNQ1 (G589D +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GPathogenic
Select item 53025	NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)	KCNQ1, KCNQ1-AS1 (P631fs +1 more)	Deletion (frameshift variant)	KCNQ1-related condition +9 more	GPathogenic/Likely pathogenic
Select item 13477	NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)	KCNE1 (D76N)	Single nucleotide variant (missense variant)	Long QT syndrome 5 +8 more	GConflicting classifications of pathogenicity
Select item 3139	KCNQ1, IVS1	KCNQ1	Variation	Jervell and Lange-Nielsen syndrome 1	GPathogenic