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_001848.3(COL6A1):c.1693C>T (p.Arg565Ter)	COL6A1	Pathogenic/Likely pathogenic	21	47419085	47419085	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001079802.2(FKTN):c.369+1G>C	FKTN	Pathogenic/Likely pathogenic	9	108363630	108363630	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004369.4(COL6A3):c.5838+1G>T	COL6A3	Pathogenic/Likely pathogenic	2	238274340	238274340	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001079802.2(FKTN):c.911-1G>A	FKTN	Pathogenic/Likely pathogenic	9	108380239	108380239	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001849.4(COL6A2):c.1396-1G>A	COL6A2	Pathogenic/Likely pathogenic	21	47540974	47540974	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001077365.2(POMT1):c.699+67G>A	POMT1	Pathogenic/Likely pathogenic	9	134385450	134385450	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.3358G>T (p.Glu1120Ter)	DMD	Pathogenic/Likely pathogenic	X	32481630	32481630	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.5026-2A>G	DMD	Pathogenic/Likely pathogenic	X	32382829	32382829	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004369.4(COL6A3):c.6310-2A>G	COL6A3	Pathogenic/Likely pathogenic	2	238267895	238267895	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_020451.3(SELENON):c.1405C>T (p.Arg469Trp)	SELENON	Pathogenic/Likely pathogenic	1	26140389	26140389	C	T	criteria provided, multiple submitters, no conflicts	-