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.51883_51892del (p.Lys17295fs)	TTN	Likely pathogenic	2	179474145	179474154	GCTGCACGCTT	G	criteria provided, single submitter	ClinGen:CA10604203
Deletion	NM_001267550.2(TTN):c.70754del (p.Val23585fs)	TTN	Likely pathogenic	2	179440105	179440105	CA	C	criteria provided, single submitter	ClinGen:CA10604246
single nucleotide variant	NM_004006.3(DMD):c.10477C>T (p.Gln3493Ter)	DMD	Pathogenic	X	31187636	31187636	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604314
single nucleotide variant	NM_004006.3(DMD):c.1417A>T (p.Lys473Ter)	DMD	Pathogenic	X	32632485	32632485	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604318
Insertion	NM_001267550.2(TTN):c.91798_91799insT (p.Glu30600fs)	TTN	Likely pathogenic	2	179414766	179414767	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604323
single nucleotide variant	NM_004006.3(DMD):c.93+1G>A	DMD	Pathogenic	X	33038255	33038255	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604467
Deletion	NM_004006.3(DMD):c.1387_1408del (p.Trp463fs)	DMD	Pathogenic	X	32632494	32632515	CTTTCTTCTGTTTTTGTTAGCCA	C	criteria provided, single submitter	ClinGen:CA10604478
single nucleotide variant	NM_004006.3(DMD):c.2168+2T>G	DMD	Pathogenic	X	32563274	32563274	A	C	criteria provided, single submitter	ClinGen:CA10604481
Deletion	NM_001079802.2(FKTN):c.456_457del (p.Ser154fs)	FKTN	Pathogenic/Likely pathogenic	9	108366581	108366582	TCA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA5170418
single nucleotide variant	NM_004006.3(DMD):c.10279C>T (p.Gln3427Ter)	DMD	Pathogenic	X	31191705	31191705	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604571