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
Deletion	NM_001927.4(DES):c.1213del (p.Tyr405fs)	DES	Pathogenic	2	220286251	220286251	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605083
Deletion	NM_004006.3(DMD):c.10361del (p.Tyr3454fs)	DMD	Pathogenic	X	31190498	31190498	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605088
single nucleotide variant	NM_170707.4(LMNA):c.83G>A (p.Arg28Gln)	LMNA	Pathogenic/Likely pathogenic	1	156084792	156084792	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605120
Duplication	NM_004006.3(DMD):c.319dup (p.Thr107fs)	DMD	Pathogenic	X	32841449	32841450	G	GT	criteria provided, single submitter	ClinGen:CA10605181
Insertion	NM_004006.3(DMD):c.6393_6394insCA (p.Ile2132fs)	DMD	Pathogenic	X	32235077	32235078	T	TTG	criteria provided, single submitter	ClinGen:CA10605182
single nucleotide variant	NM_004006.3(DMD):c.1594C>T (p.Gln532Ter)	DMD	Pathogenic	X	32613882	32613882	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605246
single nucleotide variant	NM_004006.3(DMD):c.1150-1G>A	DMD	Pathogenic	X	32662431	32662431	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605293
Duplication	NM_004006.3(DMD):c.175_179dup (p.Lys61fs)	DMD	Pathogenic	X	32867851	32867852	T	TTGCCC	criteria provided, single submitter	ClinGen:CA10605339
single nucleotide variant	NM_004006.3(DMD):c.1482+1G>C	DMD	Pathogenic	X	32632419	32632419	C	G	criteria provided, single submitter	ClinGen:CA10605379
Deletion	NM_004006.3(DMD):c.4550_4556del (p.Ser1517fs)	DMD	Pathogenic	X	32404545	32404551	CACTTCAG	C	criteria provided, single submitter	ClinGen:CA10605413