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_001848.3(COL6A1):c.428+1G>A	COL6A1	Pathogenic	21	47404384	47404384	G	A	criteria provided, single submitter	OMIM:120220.0008
single nucleotide variant	NM_001848.3(COL6A1):c.1056+1G>A	COL6A1	Pathogenic/Likely pathogenic	21	47410741	47410741	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA221748,OMIM:120220.0006
single nucleotide variant	NM_001848.3(COL6A1):c.362A>G (p.Lys121Arg)	COL6A1	Pathogenic	21	47404317	47404317	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA221786,UniProtKB:P12109#VAR_013580,OMIM:120220.0005
single nucleotide variant	NM_001848.3(COL6A1):c.1022G>A (p.Gly341Asp)	COL6A1	Pathogenic	21	47410706	47410706	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA257736,UniProtKB:P12109#VAR_013582,OMIM:120220.0004
single nucleotide variant	NM_001848.3(COL6A1):c.931-1G>A	COL6A1	Pathogenic	21	47410171	47410171	G	A	criteria provided, single submitter	ClinGen:CA10604117,OMIM:120220.0002