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	NM_004006.3(DMD):c.2638del (p.Leu880fs)	DMD	Pathogenic	X	32503201	32503201	AG	A	criteria provided, single submitter	ClinGen:CA658799655
single nucleotide variant	NM_004006.3(DMD):c.1992+1G>T	DMD	Pathogenic	X	32583818	32583818	C	A	criteria provided, single submitter	ClinGen:CA412671715
Deletion	NC_000023.11:g.(?_31819955)_(31820103_?)del	DMD	Pathogenic	X	31838072	31838220	na	na	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.1795del (p.Ser599fs)	DMD	Pathogenic	X	32591664	32591664	CT	C	criteria provided, single submitter	ClinGen:CA658799676
Duplication	NC_000023.10:g.(?_31838072)_(31983146_?)dup	DMD	Likely pathogenic	X	31838072	31983146	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_31838072)_(32563471_?)dup	DMD	Likely pathogenic	X	31838072	32563471	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31836698)_(32365219_?)del	DMD	Pathogenic	X	31854815	32383336	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_32235013)_(32408318_?)dup	DMD	Likely pathogenic	X	32235013	32408318	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32614283)_(32849840_?)del	DMD	Pathogenic	X	32632400	32867957	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32809473)_(32849840_?)del	DMD	Pathogenic	X	32827590	32867957	na	na	criteria provided, single submitter	-