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.7066C>T (p.Gln2356Ter)	DMD	Pathogenic	X	31893337	31893337	G	A	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.7048_7057del (p.Gln2350fs)	DMD	Pathogenic	X	31893346	31893355	ATTTCCAACTG	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.6614G>T (p.Arg2205Met)	DMD	Likely pathogenic	X	31986456	31986456	C	A	criteria provided, single submitter	-
Duplication	NM_004006.3(DMD):c.4610dup (p.Asn1537fs)	DMD	Pathogenic	X	32404490	32404491	A	AT	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.4433T>G (p.Leu1478Ter)	DMD	Pathogenic	X	32407703	32407703	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.2869C>T (p.Gln957Ter)	DMD	Pathogenic	X	32490361	32490361	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.2704C>T (p.Gln902Ter)	DMD	Pathogenic	X	32503135	32503135	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.1351G>T (p.Asp451Tyr)	DMD	Pathogenic/Likely pathogenic	X	32632551	32632551	C	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004006.3(DMD):c.1254_1255dup (p.Glu419fs)	DMD	Pathogenic	X	32662324	32662325	T	TCA	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.616C>T (p.Gln206Ter)	DMD	Pathogenic	X	32827643	32827643	G	A	criteria provided, single submitter	-