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_004006.3(DMD):c.5713G>T (p.Glu1905Ter)	DMD	Pathogenic	X	32361277	32361277	C	A	criteria provided, single submitter	ClinGen:CA412665669
Deletion	NM_004006.3(DMD):c.4290_4291del (p.His1430fs)	DMD	Pathogenic	X	32408241	32408242	TTA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799660
single nucleotide variant	NM_170707.4(LMNA):c.1582A>C (p.Thr528Pro)	LMNA	Pathogenic	1	156106997	156106997	A	C	criteria provided, single submitter	ClinGen:CA342823494
Deletion	NM_001267550.2(TTN):c.104087del (p.Pro34696fs)	TTN	Likely pathogenic	2	179397255	179397255	TG	T	criteria provided, single submitter	ClinGen:CA430236105
Deletion	NM_004006.3(DMD):c.3276+2del	DMD	Pathogenic/Likely pathogenic	X	32482701	32482701	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799653
Deletion	NM_004006.3(DMD):c.5334del (p.Pro1779fs)	DMD	Pathogenic	X	32366637	32366637	GA	G	criteria provided, single submitter	ClinGen:CA658799690
Deletion	NM_004006.3(DMD):c.6665_6668del (p.Glu2222fs)	DMD	Pathogenic	X	31950291	31950294	AAATT	A	criteria provided, single submitter	ClinGen:CA658799674
single nucleotide variant	NM_004006.3(DMD):c.8937+1G>T	DMD	Pathogenic	X	31496222	31496222	C	A	criteria provided, single submitter	ClinGen:CA412653829
Deletion	NM_004006.3(DMD):c.5595del (p.Arg1865fs)	DMD	Pathogenic	X	32361395	32361395	AC	A	criteria provided, single submitter	ClinGen:CA658799688
Deletion	NM_001267550.2(TTN):c.56716del (p.Glu18906fs)	TTN	Likely pathogenic	2	179463721	179463721	TC	T	criteria provided, single submitter	ClinGen:CA658796056