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
Deletion	NC_000023.11:g.(?_31875168)_(31968534_?)del	DMD	Pathogenic	X	31893285	31986651	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31875168)_(33339285_?)del	DMD	Pathogenic	X	31893285	33357402	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31929576)_(32365219_?)del	DMD	Pathogenic	X	31947693	32383336	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32216896)_(32501862_?)del	DMD	Pathogenic	X	32235013	32519979	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_32536105)_(33038337_?)dup	DMD	Pathogenic	X	32536105	33038337	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_32662229)_(32669194_?)dup	DMD	Pathogenic	X	32662229	32669194	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32823275)_(32849840_?)del	DMD	Pathogenic	X	32841392	32867957	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001848.3(COL6A1):c.823G>T (p.Gly275Trp)	COL6A1	Pathogenic	21	47409016	47409016	G	T	criteria provided, single submitter	ClinGen:CA410521476
single nucleotide variant	NM_001848.3(COL6A1):c.868G>T (p.Gly290Trp)	COL6A1	Pathogenic	21	47409531	47409531	G	T	criteria provided, single submitter	ClinGen:CA410521749
Deletion	NM_001848.3(COL6A1):c.957_957+7del	COL6A1	Pathogenic/Likely pathogenic	21	47410198	47410205	AGGTGAGCG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656798