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.2077C>T (p.Gln693Ter)	DMD	Pathogenic	X	32563367	32563367	G	A	criteria provided, single submitter	ClinGen:CA16616517
Duplication	NM_004006.3(DMD):c.2076dup (p.Gln693fs)	DMD	Pathogenic	X	32563367	32563368	G	GT	criteria provided, single submitter	ClinGen:CA16616524
single nucleotide variant	NM_004006.3(DMD):c.1653G>A (p.Trp551Ter)	DMD	Pathogenic/Likely pathogenic	X	32591913	32591913	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616525
single nucleotide variant	NM_004006.3(DMD):c.1061G>A (p.Trp354Ter)	DMD	Pathogenic	X	32663169	32663169	C	T	criteria provided, single submitter	ClinGen:CA16616527
single nucleotide variant	NM_004006.3(DMD):c.832-15A>G	DMD	Likely pathogenic	X	32716130	32716130	T	C	criteria provided, single submitter	ClinGen:CA16616530
Duplication	NM_004006.3(DMD):c.238dup (p.Ala80fs)	DMD	Pathogenic	X	32862925	32862926	G	GC	criteria provided, single submitter	ClinGen:CA16616537
Deletion	NC_000023.11:g.(?_31119228)_(33211556_?)del	DMD	Pathogenic	X	31137345	33229673	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31260955)_(31261016_?)del	DMD	Pathogenic	X	31279072	31279133	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31478106)_(31932227_?)del	DMD	Pathogenic	X	31496223	31950344	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31627673)_(31658144_?)del	DMD	Likely pathogenic	X	31645790	31676261	na	na	criteria provided, single submitter	-