特発性拡張型心筋症

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.31+36947G>A	DMD	Pathogenic/Likely pathogenic	X	33192452	33192452	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603815
single nucleotide variant	NM_004006.3(DMD):c.8217+18052A>G	DMD	Likely pathogenic	X	31627738	31627738	T	C	criteria provided, single submitter	ClinGen:CA10603817
single nucleotide variant	NM_004006.3(DMD):c.5032C>T (p.Gln1678Ter)	DMD	Pathogenic	X	32382821	32382821	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603873
Duplication	NM_001079802.2(FKTN):c.330dup (p.Thr111fs)	FKTN	Pathogenic/Likely pathogenic	9	108363587	108363588	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA5170370
single nucleotide variant	NM_001267550.2(TTN):c.66160+2T>C	TTN	Likely pathogenic	2	179447021	179447021	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA1991571
single nucleotide variant	NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter)	TTN	Pathogenic/Likely pathogenic	2	179428823	179428823	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604092
single nucleotide variant	NM_004006.3(DMD):c.5089C>T (p.Gln1697Ter)	DMD	Pathogenic	X	32382764	32382764	G	A	criteria provided, single submitter	ClinGen:CA10604112
Deletion	NM_004006.3(DMD):c.2603del (p.Ser868fs)	DMD	Pathogenic/Likely pathogenic	X	32509413	32509413	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604113
single nucleotide variant	NM_004006.3(DMD):c.2512C>T (p.Gln838Ter)	DMD	Pathogenic	X	32509504	32509504	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604115
Duplication	NM_004006.3(DMD):c.8105_8111dup (p.Trp2704fs)	DMD	Pathogenic	X	31645895	31645896	C	CCAGGCAA	criteria provided, single submitter	ClinGen:CA10604138