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_001267550.2(TTN):c.47961del (p.Gly15988fs)	TTN	Pathogenic	2	179481655	179481655	CT	C	criteria provided, single submitter	ClinGen:CA658796075
single nucleotide variant	NM_001267550.2(TTN):c.20836+1G>A	TTN	Pathogenic	2	179590094	179590094	C	T	criteria provided, single submitter	ClinGen:CA349540437
single nucleotide variant	NM_000335.5(SCN5A):c.2291T>C (p.Met764Thr)	SCN5A	Pathogenic	3	38629036	38629036	A	G	criteria provided, single submitter	ClinGen:CA016037
Duplication	NM_004006.3(DMD):c.7319dup (p.Thr2441fs)	DMD	Likely pathogenic	X	31792299	31792300	C	CT	criteria provided, single submitter	ClinGen:CA658799657
single nucleotide variant	NM_004006.3(DMD):c.4838G>A (p.Trp1613Ter)	DMD	Pathogenic	X	32398634	32398634	C	T	criteria provided, single submitter	ClinGen:CA412660945
single nucleotide variant	NM_004006.3(DMD):c.357+1G>A	DMD	Likely pathogenic	X	32841411	32841411	C	T	criteria provided, single submitter	ClinGen:CA412674406
single nucleotide variant	NM_004006.3(DMD):c.93+1G>C	DMD	Pathogenic	X	33038255	33038255	C	G	criteria provided, single submitter	ClinGen:CA412675209
Deletion	NM_000335.5(SCN5A):c.2103del (p.Leu702fs)	SCN5A	Pathogenic	3	38639379	38639379	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015846
single nucleotide variant	NM_000335.5(SCN5A):c.2023+2T>A	SCN5A	Pathogenic	3	38640407	38640407	A	T	criteria provided, single submitter	ClinGen:CA015749
Deletion	NM_000256.3(MYBPC3):c.2190del (p.Lys731fs)	MYBPC3	Likely pathogenic	11	47360189	47360189	TG	T	criteria provided, single submitter	ClinGen:CA658797628