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.8647A>T (p.Lys2883Ter)	DMD	Pathogenic	X	31497121	31497121	T	A	criteria provided, single submitter	ClinGen:CA412654472
Deletion	NM_004006.3(DMD):c.4295del (p.Gln1432fs)	DMD	Pathogenic	X	32408237	32408237	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799659
single nucleotide variant	NM_004006.3(DMD):c.283G>T (p.Gly95Ter)	DMD	Pathogenic	X	32841486	32841486	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412674570
Deletion	NM_004393.6(DAG1):c.41del (p.Ser14fs)	DAG1	Likely pathogenic	3	49548008	49548008	TC	T	criteria provided, single submitter	ClinGen:CA658796319
single nucleotide variant	NM_182961.4(SYNE1):c.8890C>T (p.Gln2964Ter)	SYNE1	Pathogenic	6	152702260	152702260	G	A	criteria provided, single submitter	ClinGen:CA366144055
single nucleotide variant	NM_004006.3(DMD):c.649+5G>T	DMD	Pathogenic	X	32827605	32827605	C	A	criteria provided, single submitter	ClinGen:CA658799666
Deletion	NM_004006.3(DMD):c.2132del (p.Lys711fs)	DMD	Pathogenic	X	32563312	32563312	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799667
Deletion	NM_004006.3(DMD):c.3885del (p.Pro1296fs)	DMD	Pathogenic	X	32459333	32459333	GA	G	criteria provided, single submitter	ClinGen:CA658799662
Duplication	NM_001079802.1(FKTN):c.657dup (p.Gln220Thrfs)	FKTN	Pathogenic	9	108370108	108370109	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797263
single nucleotide variant	NM_013382.7(POMT2):c.248+2T>C	POMT2	Pathogenic	14	77786775	77786775	A	G	criteria provided, single submitter	ClinGen:CA390504226