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_004369.4(COL6A3):c.1393C>T (p.Arg465Ter)	COL6A3	Pathogenic	2	238290062	238290062	G	A	criteria provided, single submitter	ClinGen:CA257715,OMIM:120250.0003
single nucleotide variant	NM_001849.4(COL6A2):c.811G>A (p.Gly271Ser)	COL6A2	Pathogenic	21	47535795	47535795	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P12110#VAR_013589,OMIM:120240.0001,ClinGen:CA257720
single nucleotide variant	NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn)	COL6A2	Pathogenic/Likely pathogenic	21	47545423	47545423	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA257724,UniProtKB:P12110#VAR_013590,OMIM:120240.0005
single nucleotide variant	NM_001849.4(COL6A2):c.1000-2A>G	COL6A2	Pathogenic	21	47537312	47537312	A	G	criteria provided, single submitter	OMIM:120240.0009
single nucleotide variant	NM_001849.4(COL6A2):c.2455C>T (p.Gln819Ter)	COL6A2	Pathogenic	21	47546449	47546449	C	T	criteria provided, single submitter	ClinGen:CA127109,OMIM:120240.0011
single nucleotide variant	NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)	COL6A2	Pathogenic/Likely pathogenic	21	47546058	47546058	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA257728,UniProtKB:P12110#VAR_058233,OMIM:120240.0012
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
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.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.1056+1G>A	COL6A1	Pathogenic/Likely pathogenic	21	47410741	47410741	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA221748,OMIM:120220.0006