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
Deletion	NM_004168.4(SDHA):c.255del (p.Phe85fs)	SDHA	Likely pathogenic	5	224577	224577	GT	G	criteria provided, single submitter	ClinGen:CA3172756
Deletion	NM_004168.4(SDHA):c.786del (p.Tyr263fs)	SDHA	Pathogenic/Likely pathogenic	5	231005	231005	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796487
single nucleotide variant	NM_004100.5(EYA4):c.1759C>T (p.Arg587Ter)	EYA4	Pathogenic	6	133846312	133846312	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA365700536,OMIM:603550.0002
Deletion	NM_000335.5(SCN5A):c.1753del (p.His585fs)	SCN5A	Pathogenic	3	38645340	38645340	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015310
Deletion	NM_000335.5(SCN5A):c.1711del (p.Ser571fs)	SCN5A	Pathogenic	3	38645382	38645382	CT	C	criteria provided, single submitter	ClinGen:CA015225
Deletion	NM_000335.5(SCN5A):c.1583_1584del (p.Ser528fs)	SCN5A	Pathogenic	3	38645509	38645510	TGC	T	criteria provided, single submitter	ClinGen:CA015010
single nucleotide variant	NM_000335.5(SCN5A):c.1519-1G>A	SCN5A	Likely pathogenic	3	38645575	38645575	C	T	criteria provided, single submitter	-
Deletion	NM_001943.5(DSG2):c.667del (p.Thr223fs)	DSG2	Likely pathogenic	18	29102188	29102188	CA	C	criteria provided, single submitter	ClinGen:CA658799038
Duplication	NM_000109.4(DMD):c.10530-1dup	DMD	Pathogenic	X	31165634	31165635	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799646
single nucleotide variant	NM_004006.3(DMD):c.9691C>T (p.Gln3231Ter)	DMD	Pathogenic	X	31222194	31222194	G	A	criteria provided, single submitter	ClinGen:CA412648707