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
Deletion	NM_000218.3(KCNQ1):c.451_452del (p.Leu151fs)	KCNQ1	Pathogenic	11	2549222	2549223	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007133,OMIM:607542.0022
single nucleotide variant	NM_000218.3(KCNQ1):c.477+1G>A	KCNQ1	Pathogenic	11	2549249	2549249	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007168
single nucleotide variant	NM_000218.3(KCNQ1):c.477+5G>A	KCNQ1	Pathogenic	11	2549253	2549253	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007174
single nucleotide variant	NM_000218.3(KCNQ1):c.477+5G>C	KCNQ1	Likely pathogenic	11	2549253	2549253	G	C	criteria provided, single submitter	ClinGen:CA007183
Deletion	NC_000011.10:g.(?_2570608)_(2573006_?)del	KCNQ1	Pathogenic	11	2591838	2594236	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_2570628)_(2572986_?)del	KCNQ1	Pathogenic	11	2591858	2594216	na	na	criteria provided, single submitter	-
Deletion	NM_000218.3(KCNQ1):c.488del (p.Leu163fs)	KCNQ1	Pathogenic/Likely pathogenic	11	2591868	2591868	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007232
single nucleotide variant	NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg)	KCNQ1	Pathogenic	11	2591882	2591882	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007263,UniProtKB:P51787#VAR_001516
single nucleotide variant	NM_000218.3(KCNQ1):c.502G>C (p.Gly168Arg)	KCNQ1	Pathogenic	11	2591882	2591882	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007272,UniProtKB:P51787#VAR_001516
Deletion	NM_000218.3(KCNQ1):c.504del (p.Thr169fs)	KCNQ1	Pathogenic	11	2591882	2591882	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007282