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_000117.3(EMD):c.512C>A (p.Ser171Ter)	EMD	Pathogenic	X	153609304	153609304	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606711
single nucleotide variant	NM_004006.3(DMD):c.4312C>T (p.Gln1438Ter)	DMD	Pathogenic	X	32408220	32408220	G	A	criteria provided, single submitter	ClinGen:CA10606712
single nucleotide variant	NM_004006.3(DMD):c.3413G>A (p.Trp1138Ter)	DMD	Pathogenic	X	32481575	32481575	C	T	criteria provided, single submitter	ClinGen:CA10606715
Duplication	NM_004006.3(DMD):c.1533_1534dup (p.His512fs)	DMD	Pathogenic	X	32613941	32613942	T	TGA	criteria provided, single submitter	ClinGen:CA10606761
Deletion	NM_004393.6(DAG1):c.1257del (p.Thr421fs)	DAG1	Likely pathogenic	3	49569201	49569201	CT	C	criteria provided, single submitter	ClinGen:CA10606775
single nucleotide variant	NM_004006.3(DMD):c.5344G>T (p.Glu1782Ter)	DMD	Pathogenic	X	32366627	32366627	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606778
single nucleotide variant	NM_001848.3(COL6A1):c.931-1G>C	COL6A1	Pathogenic	21	47410171	47410171	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606786
single nucleotide variant	NM_001849.4(COL6A2):c.856-2A>C	COL6A2	Pathogenic	21	47535921	47535921	A	C	criteria provided, single submitter	ClinGen:CA10606790
Deletion	NM_001849.4(COL6A2):c.1396-11_1396-2del	COL6A2	Pathogenic	21	47540964	47540973	CCTTTCTTCCA	C	criteria provided, single submitter	ClinGen:CA10606814
Deletion	NM_004006.3(DMD):c.6804_6807del (p.Lys2268fs)	DMD	Pathogenic	X	31947818	31947821	ATTGT	A	criteria provided, single submitter	ClinGen:CA10606823