筋ジストロフィー

小児・神経疾患

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_004006.3(DMD):c.4471_4472del (p.Lys1491fs)	DMD	Pathogenic	X	32407664	32407665	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA267028
Deletion	NM_004006.3(DMD):c.4500del (p.Gln1501fs)	DMD	Likely pathogenic	X	32407636	32407636	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.4518+5G>A	DMD	Pathogenic	X	32407613	32407613	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA267031
Deletion	NM_004006.3(DMD):c.4534_4535del (p.Leu1512fs)	DMD	Pathogenic	X	32404566	32404567	CAG	C	criteria provided, single submitter	ClinGen:CA267032
Duplication	NM_004006.3(DMD):c.4634dup (p.Thr1546fs)	DMD	Pathogenic	X	32404466	32404467	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.4843A>T (p.Lys1615Ter)	DMD	Pathogenic	X	32398629	32398629	T	A	criteria provided, single submitter	ClinGen:CA267038
Deletion	NM_004006.3(DMD):c.4902_4908del (p.Gly1635fs)	DMD	Pathogenic	X	32383254	32383260	CCTCTCCT	C	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter)	DMD	Pathogenic	X	32383166	32383166	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA267046
Indel	NM_004006.3(DMD):c.5097_5098delinsATGAATGAATTCATT (p.Asp1699_Thr1700delinsGluTer)	DMD	Pathogenic	X	32382755	32382756	TG	AATGAATTCATTCAT	criteria provided, single submitter	ClinGen:CA327995214
Deletion	NM_004006.3(DMD):c.5124_5127del (p.Lys1708fs)	DMD	Pathogenic	X	32382726	32382729	GTTTC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA267051