C4551647[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 983021	NM_000218.3(KCNQ1):c.287C>G (p.Thr96Arg)	KCNQ1 (T96R)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 983022	NM_000218.3(KCNQ1):c.552del (p.Lys183_Tyr184insTer)	KCNQ1	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 67084	NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu)	KCNQ1 (R190L +2 more)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +5 more	GPathogenic/Likely pathogenic
Select item 67085	NM_000218.3(KCNQ1):c.575G>A (p.Arg192His)	KCNQ1 (R192H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 53084	NM_000218.3(KCNQ1):c.683+5G>A	KCNQ1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 53101	NM_000218.3(KCNQ1):c.776G>A (p.Arg259His)	KCNQ1 (R259H +2 more)	Single nucleotide variant (missense variant)	KCNQ1-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 200824	NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu)	KCNQ1 (W178L +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 67130	NM_000218.3(KCNQ1):c.958C>T (p.Pro320Ser)	KCNQ1 (P320S +3 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 67020	NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)	KCNQ1 (K393N +4 more)	Single nucleotide variant (missense variant)	Short QT syndrome type 2 +10 more	GConflicting classifications of pathogenicity
Select item 983047	NM_000218.3(KCNQ1):c.1278del (p.Asp426fs)	KCNQ1 (D299fs +1 more)	Deletion (frameshift variant)	Long QT syndrome 1	GLikely pathogenic
Select item 52996	NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)	KCNQ1 (Q530* +4 more)	Single nucleotide variant (nonsense)	not provided +9 more	GPathogenic
Select item 53027	NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs)	KCNQ1, KCNQ1-AS1 (R505fs +1 more)	Duplication (frameshift variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity