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_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
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
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
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
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
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
Deletion	NM_020451.2(SELENON):c.-64_36del	SELENON	Pathogenic	1	26126650	26126749	CGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCG	C	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.-11_81del (p.Met1fs)	SELENON	Pathogenic	1	26126703	26126794	AGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042327,OMIM:606210.0009
single nucleotide variant	NM_020451.3(SELENON):c.166C>T (p.Gln56Ter)	SELENON	Pathogenic	1	26126887	26126887	C	T	criteria provided, single submitter	-