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.104413C>T (p.Arg34805Ter)	TTN	Pathogenic/Likely pathogenic	2	179396929	179396929	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1985430
single nucleotide variant	NM_004006.3(DMD):c.358-1G>A	DMD	Pathogenic	X	32834758	32834758	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606939
Duplication	NM_004006.3(DMD):c.1128dup (p.Asp377fs)	DMD	Pathogenic	X	32663101	32663102	C	CT	criteria provided, single submitter	ClinGen:CA10606990
single nucleotide variant	NM_020297.4(ABCC9):c.878T>C (p.Phe293Ser)	ABCC9	Likely pathogenic	12	22065939	22065939	A	G	criteria provided, single submitter	ClinGen:CA10654763
single nucleotide variant	NM_001079802.2(FKTN):c.109G>T (p.Gly37Ter)	FKTN	Likely pathogenic	9	108358882	108358882	G	T	criteria provided, single submitter	ClinGen:CA16041290
Deletion	NM_001079802.2(FKTN):c.429del (p.Asp144fs)	FKTN	Pathogenic/Likely pathogenic	9	108366553	108366553	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041291
Deletion	NM_001079802.2(FKTN):c.658_661del (p.Gln220fs)	FKTN	Likely pathogenic	9	108370110	108370113	ACAGC	A	criteria provided, single submitter	ClinGen:CA16041292
Deletion	NM_001079802.2(FKTN):c.770del (p.Ala257fs)	FKTN	Likely pathogenic	9	108370222	108370222	GC	G	criteria provided, single submitter	ClinGen:CA16041293
single nucleotide variant	NM_001079802.2(FKTN):c.780+1G>A	FKTN	Likely pathogenic	9	108370233	108370233	G	A	criteria provided, single submitter	ClinGen:CA16041294
Deletion	NM_001079802.2(FKTN):c.1106del (p.Phe369fs)	FKTN	Pathogenic/Likely pathogenic	9	108382270	108382270	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA5170569