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_000238.4(KCNH2):c.3136del (p.Gln1046fs)	KCNH2	Pathogenic	7	150644432	150644432	TG	T	criteria provided, single submitter	ClinGen:CA008026
Indel	NM_000238.4(KCNH2):c.3112_3129delinsCA (p.Val1038fs)	KCNH2	Pathogenic	7	150644439	150644456	ATCCAGCCTGCTCTCCAC	TG	criteria provided, single submitter	ClinGen:CA007983
Duplication	NM_000238.4(KCNH2):c.3105_3112dup (p.Val1038fs)	KCNH2	Pathogenic	7	150644455	150644456	A	ACGTCGCCC	criteria provided, multiple submitters, no conflicts	ClinGen:CA305338
Duplication	NM_000238.4(KCNH2):c.3104_3107dup (p.Asp1037fs)	KCNH2	Pathogenic	7	150644460	150644461	G	GCCCC	criteria provided, single submitter	ClinGen:CA305337
Deletion	NM_000238.4(KCNH2):c.3107del (p.Gly1036fs)	KCNH2	Pathogenic	7	150644461	150644461	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA007951
Duplication	NM_000238.4(KCNH2):c.3107dup (p.Asp1037fs)	KCNH2	Pathogenic	7	150644460	150644461	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA305506
Deletion	NM_000238.4(KCNH2):c.3103del (p.Arg1035fs)	KCNH2	Pathogenic	7	150644465	150644465	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007936
Duplication	NM_000238.4(KCNH2):c.3096_3099dup (p.Pro1034fs)	KCNH2	Pathogenic	7	150644468	150644469	G	GCCGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA305336
Duplication	NM_000238.4(KCNH2):c.3079dup (p.Leu1027fs)	KCNH2	Pathogenic	7	150644488	150644489	A	AG	criteria provided, single submitter	ClinGen:CA305335
single nucleotide variant	NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter)	KCNH2	Pathogenic	7	150644528	150644528	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007849