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.311G>A (p.Arg104Gln)	SCN5A	Pathogenic/Likely pathogenic	3	38671883	38671883	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016849,UniProtKB:Q14524#VAR_074318
single nucleotide variant	NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp)	SCN5A	Pathogenic/Likely pathogenic	3	38671884	38671884	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016827,UniProtKB:Q14524#VAR_074319
single nucleotide variant	NM_000335.5(SCN5A):c.2729C>T (p.Ser910Leu)	SCN5A	Pathogenic/Likely pathogenic	3	38627240	38627240	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016445,UniProtKB:Q14524#VAR_026365
single nucleotide variant	NM_000335.5(SCN5A):c.2633G>A (p.Arg878His)	SCN5A	Pathogenic/Likely pathogenic	3	38627336	38627336	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016340,UniProtKB:Q14524#VAR_074388
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
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.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.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.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.1099C>T (p.Arg367Cys)	SCN5A	Pathogenic/Likely pathogenic	3	38648201	38648201	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014305,UniProtKB:Q14524#VAR_026353