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	NC_000023.10:g.(?_31627738)_(31747885_?)del	DMD	Pathogenic	X	31627738	31747885	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_31627738)_(31838220_?)dup	DMD	Pathogenic	X	31627738	31838220	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_31747728)_(31893510_?)dup	DMD	Pathogenic	X	31747728	31893510	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(?_31747728)_(31986651_?)del	DMD	Pathogenic	X	31747728	31986651	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31819955)_(31932247_?)del	DMD	Pathogenic	X	31838072	31950364	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(?_31947693)_(31986651_?)del	DMD	Pathogenic	X	31947693	31986651	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_32632400)_(32632590_?)dup	DMD	Pathogenic	X	32632400	32632590	na	na	criteria provided, single submitter	-
Deletion	NM_001848.3(COL6A1):c.148del (p.Ala49_Leu50insTer)	COL6A1	Pathogenic	21	47402596	47402596	GC	G	criteria provided, single submitter	ClinGen:CA658658900
Deletion	NM_001849.4(COL6A2):c.1000-13_1030del	COL6A2	Likely pathogenic	21	47537301	47537344	CCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCT	C	criteria provided, single submitter	ClinGen:CA658658894
single nucleotide variant	NM_001849.4(COL6A2):c.1459-2A>G	COL6A2	Pathogenic	21	47541468	47541468	A	G	criteria provided, single submitter	ClinGen:CA10071908,OMIM:120240.0003