特発性拡張型心筋症

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_004168.4(SDHA):c.722_726del (p.Asp241fs)	SDHA	Pathogenic	5	228398	228402	AGGACG	A	criteria provided, single submitter	ClinGen:CA658796485
single nucleotide variant	NM_004168.4(SDHA):c.1629T>G (p.Tyr543Ter)	SDHA	Pathogenic	5	251184	251184	T	G	criteria provided, single submitter	ClinGen:CA358998711
single nucleotide variant	NM_004168.4(SDHA):c.628C>T (p.Arg210Ter)	SDHA	Pathogenic	5	228306	228306	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3172926
single nucleotide variant	NM_004168.4(SDHA):c.622-1G>A	SDHA	Likely pathogenic	5	228299	228299	G	A	criteria provided, single submitter	ClinGen:CA359010778
Duplication	NM_004168.4(SDHA):c.1547dup (p.Lys517fs)	SDHA	Pathogenic	5	240586	240587	C	CA	criteria provided, single submitter	ClinGen:CA658796492
single nucleotide variant	NM_000335.5(SCN5A):c.1134T>A (p.Tyr378Ter)	SCN5A	Pathogenic	3	38648166	38648166	A	T	criteria provided, single submitter	ClinGen:CA014398
single nucleotide variant	NM_000335.5(SCN5A):c.1080G>A (p.Trp360Ter)	SCN5A	Pathogenic	3	38648220	38648220	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014295
single nucleotide variant	NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter)	SCN5A	Pathogenic	3	38655273	38655273	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA019700
single nucleotide variant	NM_000335.5(SCN5A):c.664C>G (p.Arg222Gly)	SCN5A	Likely pathogenic	3	38655273	38655273	G	C	criteria provided, single submitter	ClinGen:CA019695
single nucleotide variant	NM_000335.5(SCN5A):c.611+1G>A	SCN5A	Pathogenic	3	38662333	38662333	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019622