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_000335.5(SCN5A):c.255del (p.Phe86fs)	SCN5A	Pathogenic/Likely pathogenic	3	38674544	38674544	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016281
single nucleotide variant	NM_000335.5(SCN5A):c.3960+1G>A	SCN5A	Pathogenic/Likely pathogenic	3	38603905	38603905	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017659
single nucleotide variant	NM_000335.5(SCN5A):c.845G>A (p.Arg282His)	SCN5A	Pathogenic/Likely pathogenic	3	38651314	38651314	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019849,UniProtKB:Q14524#VAR_026348
single nucleotide variant	NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp)	SCN5A	Pathogenic/Likely pathogenic	3	38655264	38655264	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA019714,UniProtKB:Q14524#VAR_055164
single nucleotide variant	NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg)	SCN5A	Pathogenic/Likely pathogenic	3	38592636	38592636	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019015,UniProtKB:Q14524#VAR_055208
single nucleotide variant	NM_000335.5(SCN5A):c.4883G>A (p.Arg1628Gln)	SCN5A	Pathogenic/Likely pathogenic	3	38592977	38592977	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018714
single nucleotide variant	NM_000335.5(SCN5A):c.3985G>A (p.Ala1329Thr)	SCN5A	Pathogenic/Likely pathogenic	3	38601895	38601895	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017699,UniProtKB:Q14524#VAR_055190
single nucleotide variant	NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)	SCN5A	Pathogenic/Likely pathogenic	3	38603913	38603913	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017654,UniProtKB:Q14524#VAR_026375
single nucleotide variant	NM_000335.5(SCN5A):c.362G>A (p.Arg121Gln)	SCN5A	Pathogenic/Likely pathogenic	3	38671832	38671832	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017353,UniProtKB:Q14524#VAR_074321
single nucleotide variant	NM_000335.5(SCN5A):c.361C>T (p.Arg121Trp)	SCN5A	Pathogenic/Likely pathogenic	3	38671833	38671833	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017341,UniProtKB:Q14524#VAR_074322