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.1149+1G>A	DMD	Pathogenic	X	32663080	32663080	C	T	criteria provided, single submitter	ClinGen:CA16616683
single nucleotide variant	NM_004006.3(DMD):c.3603+3A>T	DMD	Pathogenic	X	32472776	32472776	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616684
single nucleotide variant	NM_004006.3(DMD):c.2276T>A (p.Leu759Ter)	DMD	Pathogenic	X	32536141	32536141	A	T	criteria provided, single submitter	ClinGen:CA16616687
Duplication	NM_004006.3(DMD):c.153dup (p.Asp52fs)	DMD	Pathogenic	X	32867877	32867878	C	CT	criteria provided, single submitter	ClinGen:CA16616690
Indel	NM_170707.4(LMNA):c.164_168delinsTCT (p.Glu55fs)	LMNA	Likely pathogenic	1	156084873	156084877	AGAAC	TCT	criteria provided, single submitter	ClinGen:CA16616999
Deletion	NM_170707.4(LMNA):c.835del (p.Glu279fs)	LMNA	Pathogenic	1	156105002	156105002	TG	T	criteria provided, single submitter	ClinGen:CA16617000
single nucleotide variant	NM_170707.4(LMNA):c.1078C>T (p.Gln360Ter)	LMNA	Pathogenic	1	156105833	156105833	C	T	criteria provided, single submitter	ClinGen:CA16617001
Deletion	NM_170707.4(LMNA):c.1629_1636del (p.Val544fs)	LMNA	Pathogenic	1	156107462	156107469	AGCTGGTGC	A	criteria provided, single submitter	ClinGen:CA16617002
Duplication	NM_020451.3(SELENON):c.683_689dup (p.Met230fs)	SELENON	Pathogenic	1	26135215	26135216	C	CTGAGCAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617131
single nucleotide variant	NM_004369.4(COL6A3):c.8965+1G>A	COL6A3	Likely pathogenic	2	238244777	238244777	C	T	criteria provided, single submitter	ClinGen:CA16617499