特発性拡張型心筋症

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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_001267550.2(TTN):c.2089A>T (p.Lys697Ter)	TTN	Likely pathogenic	2	179650856	179650856	T	A	criteria provided, single submitter	ClinGen:CA349502198
single nucleotide variant	NM_000335.5(SCN5A):c.4810G>C (p.Gly1604Arg)	SCN5A	Pathogenic	3	38595770	38595770	C	G	criteria provided, single submitter	ClinGen:CA018582
Duplication	NM_000335.5(SCN5A):c.4609_4613dup (p.Cys1538Ter)	SCN5A	Pathogenic	3	38595966	38595967	G	GCAGAT	criteria provided, single submitter	ClinGen:CA308149
Deletion	NM_000335.5(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del)	SCN5A	Pathogenic	3	38597162	38597170	TGGGCTTCTG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018388,OMIM:600163.0001
Deletion	NM_000335.5(SCN5A):c.4469del (p.Gln1490fs)	SCN5A	Pathogenic	3	38597217	38597217	CT	C	criteria provided, single submitter	ClinGen:CA018308
single nucleotide variant	NM_000335.5(SCN5A):c.4450A>G (p.Ile1484Val)	SCN5A	Pathogenic	3	38597236	38597236	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.4421A>T (p.Gln1474Leu)	SCN5A	Likely pathogenic	3	38597945	38597945	T	A	criteria provided, single submitter	ClinGen:CA018253
Deletion	NM_000335.5(SCN5A):c.4243-2del	SCN5A	Pathogenic/Likely pathogenic	3	38598777	38598777	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA018030
single nucleotide variant	NM_000335.5(SCN5A):c.4242+2T>A	SCN5A	Pathogenic/Likely pathogenic	3	38601636	38601636	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018025
single nucleotide variant	NM_000335.5(SCN5A):c.4242+1G>T	SCN5A	Likely pathogenic	3	38601637	38601637	C	A	criteria provided, single submitter	-