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_020451.3(SELENON):c.802C>T (p.Arg268Cys)	SELENON	Pathogenic/Likely pathogenic	1	26135571	26135571	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_170707.4(LMNA):c.143G>C (p.Arg48Pro)	LMNA	Pathogenic/Likely pathogenic	1	156084852	156084852	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001848.3(COL6A1):c.904-39A>G	COL6A1	Pathogenic/Likely pathogenic	21	47409627	47409627	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter)	COL6A3	Pathogenic/Likely pathogenic	2	238272009	238272009	G	A	criteria provided, multiple submitters, no conflicts	-
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_001079802.2(FKTN):c.756T>A (p.Tyr252Ter)	FKTN	Pathogenic/Likely pathogenic	9	108370208	108370208	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001079802.2(FKTN):c.360G>A (p.Trp120Ter)	FKTN	Pathogenic/Likely pathogenic	9	108363620	108363620	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001159699.2(FHL1):c.841_844dup (p.Phe282fs)	FHL1	Pathogenic/Likely pathogenic	X	135292130	135292131	C	CTTTG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_182961.4(SYNE1):c.10145+1G>A	SYNE1	Pathogenic/Likely pathogenic	6	152685981	152685981	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.10087-2A>G	DMD	Pathogenic/Likely pathogenic	X	31196924	31196924	T	C	criteria provided, multiple submitters, no conflicts	-