筋ジストロフィー

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.1A>G (p.Met1Val)	SELENON	Pathogenic/Likely pathogenic	1	26126722	26126722	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA253168,OMIM:606210.0003
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
Deletion	NM_020451.2(SELENON):c.-55_183del	SELENON	Pathogenic	1	26126666	26126903	GGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCA	G	criteria provided, single submitter	-
Deletion	NM_020451.2(SELENON):c.-64_36del	SELENON	Pathogenic	1	26126650	26126749	CGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCG	C	criteria provided, single submitter	-
single nucleotide variant	NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)	TMEM43	Pathogenic	3	14183165	14183165	C	T	criteria provided, multiple submitters, no conflicts	OMIM:612048.0001,ClinGen:CA024568,UniProtKB:Q9BTV4#VAR_044438