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
copy number loss	GRCh37/hg19 Xp21.1(chrX:31815807-31875058)x0	DMD	Likely pathogenic	X	31815807	31875058	na	na	criteria provided, single submitter	-
copy number loss	GRCh37/hg19 Xp21.1(chrX:31853996-31855256)	DMD	Pathogenic	X	31853996	31855256	na	na	criteria provided, single submitter	-
copy number loss	GRCh37/hg19 Xp21.1(chrX:32235149-32459424)	DMD	Pathogenic	X	32235149	32459424	na	na	criteria provided, single submitter	-
copy number loss	GRCh37/hg19 Xp21.1(chrX:32466518-32928163)	DMD	Pathogenic	X	32466518	32928163	na	na	criteria provided, single submitter	-
copy number loss	GRCh37/hg19 Xp21.1(chrX:32587530-32719171)	DMD	Pathogenic	X	32587530	32719171	na	na	criteria provided, single submitter	-
Duplication	NM_000426.4(LAMA2):c.5290dup (p.Glu1764fs)	LAMA2	Pathogenic/Likely pathogenic	6	129714239	129714240	C	CG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_182961.4(SYNE1):c.23995C>T (p.Arg7999Ter)	SYNE1	Likely pathogenic	6	152476161	152476161	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.639+1G>A	LMNA	Likely pathogenic	1	156104320	156104320	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_017739.4(POMGNT1):c.1526A>G (p.Asn509Ser)	POMGNT1	Likely pathogenic	1	46657783	46657783	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.727G>T (p.Asp243Tyr)	LMNA	Likely pathogenic	1	156104683	156104683	G	T	criteria provided, single submitter	-