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
single nucleotide variant	NM_004006.3(DMD):c.8656C>T (p.Gln2886Ter)	DMD	Pathogenic	X	31497112	31497112	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275322
single nucleotide variant	NM_004006.3(DMD):c.8669-2A>C	DMD	Pathogenic	X	31496493	31496493	T	G	criteria provided, single submitter	ClinGen:CA275325
single nucleotide variant	NM_001849.4(COL6A2):c.812G>A (p.Gly271Asp)	COL6A2	Pathogenic	21	47535796	47535796	G	A	criteria provided, single submitter	ClinGen:CA275346
Deletion	NM_004006.3(DMD):c.415_428del (p.Ile139fs)	DMD	Pathogenic	X	32834687	32834700	CCAGCTCAGGAGAAT	C	criteria provided, single submitter	ClinGen:CA275350
single nucleotide variant	NM_004006.3(DMD):c.9216C>G (p.Tyr3072Ter)	DMD	Pathogenic	X	31341723	31341723	G	C	criteria provided, single submitter	ClinGen:CA275366
single nucleotide variant	NM_004006.3(DMD):c.9978C>G (p.Tyr3326Ter)	DMD	Pathogenic	X	31198595	31198595	G	C	criteria provided, single submitter	ClinGen:CA275372
single nucleotide variant	NM_001849.4(COL6A2):c.875G>T (p.Gly292Val)	COL6A2	Pathogenic	21	47535942	47535942	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275394
single nucleotide variant	NM_004006.3(DMD):c.565C>T (p.Gln189Ter)	DMD	Pathogenic	X	32827694	32827694	G	A	criteria provided, single submitter	ClinGen:CA275401
Duplication	NM_004006.3(DMD):c.547dup (p.Trp183fs)	DMD	Pathogenic	X	32827711	32827712	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA275404
Deletion	NM_004006.3(DMD):c.627del (p.Ile209fs)	DMD	Pathogenic	X	32827632	32827632	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA275405