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
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_020451.3(SELENON):c.665G>A (p.Trp222Ter)	SELENON	Pathogenic	1	26135198	26135198	G	A	criteria provided, single submitter	ClinGen:CA339112027
single nucleotide variant	NM_020451.3(SELENON):c.301+1G>T	SELENON	Pathogenic	1	26127652	26127652	G	T	criteria provided, single submitter	ClinGen:CA223588
Deletion	NM_020451.3(SELENON):c.300del (p.Ser102fs)	SELENON	Pathogenic	1	26127650	26127650	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_020451.3(SELENON):c.166C>T (p.Gln56Ter)	SELENON	Pathogenic	1	26126887	26126887	C	T	criteria provided, single submitter	-
Duplication	NM_020451.3(SELENON):c.44_72dup (p.Arg25fs)	SELENON	Pathogenic	1	26126761	26126762	C	CCCGGCCCCGCCGCGCAGCCTCCCGCGCCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA274920
Deletion	NM_020451.3(SELENON):c.9_33del (p.Ala4fs)	SELENON	Pathogenic	1	26126724	26126748	TGGGCCGGGCCCGGCCGGGCCAACGC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602785
Duplication	NM_020451.3(SELENON):c.13_22dup (p.Gln8fs)	SELENON	Pathogenic	1	26126724	26126725	G	GGGCCGGGCCC	criteria provided, multiple submitters, no conflicts	ClinGen:CA274921,OMIM:606210.0013
single nucleotide variant	NM_020451.3(SELENON):c.2T>C (p.Met1Thr)	SELENON	Pathogenic	1	26126723	26126723	T	C	criteria provided, single submitter	ClinGen:CA339105610
single nucleotide variant	NM_020451.3(SELENON):c.2T>G (p.Met1Arg)	SELENON	Pathogenic	1	26126723	26126723	T	G	criteria provided, single submitter	ClinGen:CA339105612