筋ジストロフィー

小児・神経疾患

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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
single nucleotide variant	NM_004006.3(DMD):c.3603+2T>A	DMD	Pathogenic	X	32472777	32472777	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA222388
Duplication	NM_004006.3(DMD):c.3639dup (p.Val1214fs)	DMD	Pathogenic/Likely pathogenic	X	32466719	32466720	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA267009
Deletion	NM_004006.3(DMD):c.3747del (p.Trp1249fs)	DMD	Pathogenic	X	32466612	32466612	GC	G	criteria provided, single submitter	ClinGen:CA267011
Indel	NM_004006.3(DMD):c.3779_3785delinsGG (p.Thr1260fs)	DMD	Pathogenic	X	32466574	32466580	TCCAAAG	CC	criteria provided, single submitter	ClinGen:CA267012
single nucleotide variant	NM_004006.3(DMD):c.4117C>T (p.Gln1373Ter)	DMD	Pathogenic	X	32429985	32429985	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA267016
Deletion	NM_004006.3(DMD):c.412_413del (p.Lys138fs)	DMD	Pathogenic	X	32834702	32834703	CTT	C	criteria provided, single submitter	ClinGen:CA267019
Deletion	NM_004006.3(DMD):c.4314_4315del (p.Arg1439fs)	DMD	Pathogenic	X	32408217	32408218	CTT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.434G>C (p.Arg145Pro)	DMD	Pathogenic	X	32834681	32834681	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA222397
single nucleotide variant	NM_004006.3(DMD):c.4375C>T (p.Arg1459Ter)	DMD	Pathogenic	X	32407761	32407761	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA267021
single nucleotide variant	NM_004006.3(DMD):c.4405C>T (p.Gln1469Ter)	DMD	Pathogenic	X	32407731	32407731	G	A	criteria provided, multiple submitters, no conflicts	-