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.921G>A (p.Trp307Ter)	SELENON	Pathogenic	1	26136222	26136222	G	A	criteria provided, single submitter	ClinGen:CA339114664
single nucleotide variant	NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)	SELENON	Pathogenic/Likely pathogenic	1	26136244	26136244	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA223589,UniProtKB:Q9NZV5#VAR_019637,OMIM:606210.0008
Deletion	NM_020451.3(SELENON):c.997_1000del (p.Val333fs)	SELENON	Pathogenic	1	26136297	26136300	TCGTG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602766
single nucleotide variant	NM_020451.3(SELENON):c.1090C>T (p.Gln364Ter)	SELENON	Pathogenic	1	26138024	26138024	C	T	criteria provided, single submitter	ClinGen:CA10602788
single nucleotide variant	NM_020451.3(SELENON):c.1096G>T (p.Glu366Ter)	SELENON	Pathogenic/Likely pathogenic	1	26138185	26138185	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275449
single nucleotide variant	NM_020451.3(SELENON):c.1180G>T (p.Glu394Ter)	SELENON	Pathogenic	1	26138269	26138269	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_020451.3(SELENON):c.1289dup (p.Tyr430Ter)	SELENON	Pathogenic	1	26139184	26139185	T	TA	criteria provided, single submitter	ClinGen:CA645372407
single nucleotide variant	NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter)	SELENON	Pathogenic	1	26139211	26139211	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA223582
Deletion	NM_020451.3(SELENON):c.1332_1334del (p.Asn444del)	SELENON	Pathogenic/Likely pathogenic	1	26139226	26139228	GAAC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372408
single nucleotide variant	NM_020451.3(SELENON):c.1358G>C (p.Trp453Ser)	SELENON	Likely pathogenic	1	26139254	26139254	G	C	criteria provided, single submitter	ClinGen:CA253171,UniProtKB:Q9NZV5#VAR_019639,OMIM:606210.0005