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.10783C>T (p.Gln3595Ter)	DMD	Pathogenic	X	31165406	31165406	G	A	criteria provided, single submitter	ClinGen:CA412649008
Deletion	NM_004006.3(DMD):c.10224-175_10230del	DMD	Pathogenic	X	31196081	31196262	TAACGGGACTGCAAAACAAAAAATGAGGTGGTGAAGGAGACACACGCAAACTCAGCCGCAAAAAAATTTACTGAAAGGTCAAAATAAATAAAATCCAGCCAATTAAGTATGAACCATGGAAAGCAATAGCCAAACCAAGGTGTAAAGTGAATTAAAAGAAAAACACACAGTTGTGTGACTGCC	T	criteria provided, single submitter	ClinGen:CA658799634
single nucleotide variant	NM_004006.3(DMD):c.9183G>A (p.Trp3061Ter)	DMD	Pathogenic	X	31341756	31341756	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412651708
Duplication	NM_004006.3(DMD):c.8683dup (p.Glu2895fs)	DMD	Pathogenic	X	31496476	31496477	T	TC	criteria provided, single submitter	ClinGen:CA658799642
Deletion	NM_004006.3(DMD):c.8096_8112del (p.Glu2699fs)	DMD	Pathogenic	X	31645895	31645911	GCCAGGCAAGAAACTTTT	G	criteria provided, single submitter	ClinGen:CA658799640
single nucleotide variant	NM_004006.3(DMD):c.8027+1G>A	DMD	Pathogenic	X	31676106	31676106	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412655709
single nucleotide variant	NM_004006.3(DMD):c.4501C>T (p.Gln1501Ter)	DMD	Pathogenic	X	32407635	32407635	G	A	criteria provided, single submitter	ClinGen:CA412662973
Deletion	NM_004006.3(DMD):c.3817del (p.Ser1273fs)	DMD	Pathogenic	X	32459401	32459401	GA	G	criteria provided, single submitter	ClinGen:CA658799663
Deletion	NM_004006.3(DMD):c.3713del (p.Lys1238fs)	DMD	Pathogenic	X	32466646	32466646	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA515714987
single nucleotide variant	NM_004006.3(DMD):c.1366A>T (p.Lys456Ter)	DMD	Pathogenic	X	32632536	32632536	T	A	criteria provided, single submitter	ClinGen:CA412670345