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_170707.2(LMNA):c.(?_1)_(356_?)del	LMNA	Pathogenic	1	156084710	156085065	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000117.3(EMD):c.266-2A>G	EMD	Pathogenic	X	153608592	153608592	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273149
single nucleotide variant	NM_004006.3(DMD):c.2755A>T (p.Lys919Ter)	DMD	Pathogenic	X	32503084	32503084	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273313
single nucleotide variant	NM_004006.3(DMD):c.2956C>T (p.Gln986Ter)	DMD	Pathogenic	X	32486821	32486821	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273310
single nucleotide variant	NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)	FKTN	Pathogenic/Likely pathogenic	9	108366537	108366537	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA233995
single nucleotide variant	NM_004006.3(DMD):c.8680G>T (p.Glu2894Ter)	DMD	Pathogenic	X	31496480	31496480	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273299
single nucleotide variant	NM_004006.3(DMD):c.3532G>T (p.Glu1178Ter)	DMD	Pathogenic	X	32472850	32472850	C	A	criteria provided, single submitter	ClinGen:CA273307
single nucleotide variant	NM_004006.3(DMD):c.883C>T (p.Arg295Ter)	DMD	Pathogenic	X	32716064	32716064	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273321
single nucleotide variant	NM_004006.3(DMD):c.9164-1G>C	DMD	Pathogenic	X	31341776	31341776	C	G	criteria provided, single submitter	ClinGen:CA273298
single nucleotide variant	NM_004006.3(DMD):c.5363C>G (p.Ser1788Ter)	DMD	Pathogenic	X	32366608	32366608	G	C	criteria provided, single submitter	ClinGen:CA273304