先天性QT延長症候群

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000218.3(KCNQ1):c.776G>T (p.Arg259Leu)	KCNQ1	Pathogenic/Likely pathogenic	11	2593335	2593335	G	T	criteria provided, multiple submitters, no conflicts	UniProtKB:P51787#VAR_068296,ClinGen:CA008191
single nucleotide variant	NM_000218.3(KCNQ1):c.781G>A (p.Glu261Lys)	KCNQ1	Likely pathogenic	11	2594076	2594076	G	A	criteria provided, single submitter	ClinGen:CA008215,UniProtKB:P51787#VAR_001523
single nucleotide variant	NM_000218.3(KCNQ1):c.783G>C (p.Glu261Asp)	KCNQ1	Pathogenic	11	2594078	2594078	G	C	criteria provided, single submitter	ClinGen:CA008229,UniProtKB:P51787#VAR_008944
single nucleotide variant	NM_000218.3(KCNQ1):c.794C>T (p.Thr265Ile)	KCNQ1	Pathogenic	11	2594089	2594089	C	T	criteria provided, single submitter	ClinGen:CA008246
Deletion	NM_000218.3(KCNQ1):c.796del (p.Leu266fs)	KCNQ1	Pathogenic	11	2594089	2594089	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008255
single nucleotide variant	NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro)	KCNQ1	Pathogenic/Likely pathogenic	11	2594092	2594092	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008262,UniProtKB:P51787#VAR_009924
single nucleotide variant	NM_000218.3(KCNQ1):c.815G>A (p.Gly272Asp)	KCNQ1	Pathogenic/Likely pathogenic	11	2594110	2594110	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008316,UniProtKB:P51787#VAR_074967
single nucleotide variant	NM_000218.3(KCNQ1):c.818T>G (p.Leu273Arg)	KCNQ1	Likely pathogenic	11	2594113	2594113	T	G	criteria provided, single submitter	ClinGen:CA008339,UniProtKB:P51787#VAR_068297
single nucleotide variant	NM_000218.3(KCNQ1):c.830C>G (p.Ser277Trp)	KCNQ1	Pathogenic/Likely pathogenic	11	2594125	2594125	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008428,UniProtKB:P51787#VAR_074970
single nucleotide variant	NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu)	KCNQ1	Pathogenic	11	2594125	2594125	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008437,UniProtKB:P51787#VAR_065777