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	-
Deletion	NM_020451.2(SELENON):c.-55_183del	SELENON	Pathogenic	1	26126666	26126903	GGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCA	G	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	-
Deletion	NM_020451.3(SELENON):c.-11_81del (p.Met1fs)	SELENON	Pathogenic	1	26126703	26126794	AGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042327,OMIM:606210.0009
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_020451.2(SELENON):c.-64_36del	SELENON	Pathogenic	1	26126650	26126749	CGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCG	C	criteria provided, single submitter	-
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