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_000335.5(SCN5A):c.1120T>G (p.Trp374Gly)	SCN5A	Likely pathogenic	3	38648180	38648180	A	C	criteria provided, single submitter	ClinGen:CA014359,UniProtKB:Q14524#VAR_074347
single nucleotide variant	NM_000335.5(SCN5A):c.1127G>A (p.Arg376His)	SCN5A	Pathogenic/Likely pathogenic	3	38648173	38648173	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014389,UniProtKB:Q14524#VAR_055169
single nucleotide variant	NM_000335.5(SCN5A):c.1218C>A (p.Asn406Lys)	SCN5A	Pathogenic/Likely pathogenic	3	38647562	38647562	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014532,UniProtKB:Q14524#VAR_055170
single nucleotide variant	NM_000335.5(SCN5A):c.1218C>G (p.Asn406Lys)	SCN5A	Pathogenic	3	38647562	38647562	G	C	criteria provided, single submitter	ClinGen:CA014540,UniProtKB:Q14524#VAR_055170
single nucleotide variant	NM_000335.5(SCN5A):c.1231G>A (p.Val411Met)	SCN5A	Pathogenic	3	38647549	38647549	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014560,UniProtKB:Q14524#VAR_068329
single nucleotide variant	NM_000335.5(SCN5A):c.2204C>A (p.Ala735Glu)	SCN5A	Likely pathogenic	3	38639278	38639278	G	T	criteria provided, single submitter	ClinGen:CA015938,UniProtKB:Q14524#VAR_026360
single nucleotide variant	NM_000335.5(SCN5A):c.2254G>A (p.Gly752Arg)	SCN5A	Pathogenic/Likely pathogenic	3	38639228	38639228	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016002,UniProtKB:Q14524#VAR_026361
single nucleotide variant	NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp)	SCN5A	Pathogenic/Likely pathogenic	3	38627529	38627529	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016173
single nucleotide variant	NM_000335.5(SCN5A):c.2527A>G (p.Thr843Ala)	SCN5A	Pathogenic	3	38627442	38627442	T	C	criteria provided, single submitter	ClinGen:CA016243
single nucleotide variant	NM_000335.5(SCN5A):c.2632C>T (p.Arg878Cys)	SCN5A	Pathogenic/Likely pathogenic	3	38627337	38627337	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016333,UniProtKB:Q14524#VAR_055183