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_004006.3(DMD):c.3747G>A (p.Trp1249Ter)	DMD	Pathogenic	X	32466612	32466612	C	T	criteria provided, single submitter	ClinGen:CA10605765
single nucleotide variant	NM_001848.3(COL6A1):c.904G>A (p.Gly302Arg)	COL6A1	Pathogenic/Likely pathogenic	21	47409666	47409666	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605766
Deletion	NM_004006.3(DMD):c.1956del (p.Asp652fs)	DMD	Pathogenic/Likely pathogenic	X	32583855	32583855	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605771
Deletion	NM_182961.4(SYNE1):c.23071_23099del (p.Thr7691fs)	SYNE1	Pathogenic	6	152523005	152523033	GAGAGACTGCGAAAGCTTCTTTTTGAAAGT	G	criteria provided, single submitter	ClinGen:CA10605778
single nucleotide variant	NM_000426.4(LAMA2):c.817A>T (p.Arg273Ter)	LAMA2	Pathogenic	6	129465223	129465223	A	T	criteria provided, single submitter	ClinGen:CA10605782
Deletion	NM_004006.3(DMD):c.10126del (p.Val3375_Leu3376insTer)	DMD	Pathogenic	X	31196883	31196883	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605812,LOVD 3:DMD_000063,OMIM:300377.0024,ClinVar:11234
single nucleotide variant	NM_000426.4(LAMA2):c.7155+1G>A	LAMA2	Pathogenic/Likely pathogenic	6	129785598	129785598	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605831
Deletion	NM_004006.3(DMD):c.2052_2053del (p.Val685fs)	DMD	Pathogenic	X	32563391	32563392	ACT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605838
single nucleotide variant	NM_001848.3(COL6A1):c.1002+1G>T	COL6A1	Pathogenic	21	47410337	47410337	G	T	criteria provided, single submitter	ClinGen:CA10605839
Deletion	NM_024301.5(FKRP):c.675del (p.Thr226fs)	FKRP	Pathogenic	19	47259382	47259382	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605846