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.166C>T (p.Gln56Ter)	SELENON	Pathogenic	1	26126887	26126887	C	T	criteria provided, single submitter	-
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.301+1G>T	SELENON	Pathogenic	1	26127652	26127652	G	T	criteria provided, single submitter	ClinGen:CA223588
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
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
Duplication	NM_020451.3(SELENON):c.713dup (p.Asn238fs)	SELENON	Pathogenic	1	26135244	26135245	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA253172,OMIM:606210.0006
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	-
Duplication	NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer)	SELENON	Likely pathogenic	1	26135595	26135596	G	GCCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA276995
single nucleotide variant	NM_020451.3(SELENON):c.855C>G (p.Tyr285Ter)	SELENON	Likely pathogenic	1	26135624	26135624	C	G	criteria provided, single submitter	ClinGen:CA339114209
single nucleotide variant	NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)	SELENON	Pathogenic/Likely pathogenic	1	26135641	26135641	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA696660