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_001159699.2(FHL1):c.466_470del (p.Ser156fs)	FHL1	Pathogenic	X	135290037	135290041	AAGCTT	A	criteria provided, single submitter	ClinGen:CA658659045
single nucleotide variant	NM_000117.3(EMD):c.430G>T (p.Glu144Ter)	EMD	Pathogenic	X	153609143	153609143	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA415258268
single nucleotide variant	NM_004006.3(DMD):c.9928C>T (p.Gln3310Ter)	DMD	Pathogenic	X	31200901	31200901	G	A	criteria provided, single submitter	ClinGen:CA328405792
single nucleotide variant	NM_004006.3(DMD):c.8547+1G>A	DMD	Likely pathogenic	X	31514904	31514904	C	T	criteria provided, single submitter	ClinGen:CA412655349
Deletion	NM_004006.3(DMD):c.7268del (p.Lys2423fs)	DMD	Pathogenic	X	31838133	31838133	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658944
Deletion	NM_004006.3(DMD):c.6986del (p.Lys2329fs)	DMD	Pathogenic	X	31893417	31893417	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA515859535
Indel	NM_004006.3(DMD):c.4918_4919delinsTG (p.Thr1640Ter)	DMD	Pathogenic	X	32383243	32383244	GT	CA	criteria provided, single submitter	ClinGen:CA658658964
single nucleotide variant	NM_004006.3(DMD):c.3432+2036A>G	DMD	Pathogenic/Likely pathogenic	X	32479520	32479520	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658948,OMIM:300377.0081
single nucleotide variant	NM_004006.3(DMD):c.1865C>A (p.Ser622Ter)	DMD	Pathogenic	X	32583946	32583946	G	T	criteria provided, single submitter	ClinGen:CA412672846
Duplication	NC_000023.10:g.(?_31514885)_(31950364_?)dup	DMD	Likely pathogenic	X	31514885	31950364	na	na	criteria provided, single submitter	-