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.6014_6017del (p.Thr2005fs)	DMD	Pathogenic	X	32328299	32328302	ATGAG	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.6072T>A (p.Cys2024Ter)	DMD	Pathogenic	X	32328244	32328244	A	T	criteria provided, single submitter	ClinGen:CA267094
single nucleotide variant	NM_004006.3(DMD):c.615T>A (p.Tyr205Ter)	DMD	Pathogenic	X	32827644	32827644	A	T	criteria provided, single submitter	ClinGen:CA267097
Deletion	NM_004006.3(DMD):c.6182del (p.Ala2061fs)	DMD	Pathogenic	X	32305754	32305754	TG	T	criteria provided, single submitter	ClinGen:CA267100
single nucleotide variant	NM_004006.3(DMD):c.6283C>T (p.Arg2095Ter)	DMD	Pathogenic	X	32305653	32305653	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.649+1G>A	DMD	Pathogenic	X	32827609	32827609	C	T	criteria provided, single submitter	ClinGen:CA267112
single nucleotide variant	NM_004006.3(DMD):c.6763-2A>G	DMD	Likely pathogenic	X	31947864	31947864	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.6906G>A (p.Trp2302Ter)	DMD	Pathogenic	X	31947719	31947719	C	T	criteria provided, single submitter	ClinGen:CA267118
Deletion	NM_004006.3(DMD):c.6964del (p.Asp2322fs)	DMD	Pathogenic	X	31893439	31893439	TC	T	criteria provided, single submitter	-
Duplication	NM_004006.3(DMD):c.6986dup (p.Leu2330fs)	DMD	Pathogenic	X	31893416	31893417	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA267126,LOVD 3:DMD_000058,OMIM:300377.0058