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.877G>A (p.Gly293Arg)	COL6A1	Pathogenic/Likely pathogenic	21	47409540	47409540	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA221801
single nucleotide variant	NM_001848.3(COL6A1):c.896G>A (p.Gly299Glu)	COL6A1	Pathogenic/Likely pathogenic	21	47409559	47409559	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA221804
single nucleotide variant	NM_001848.3(COL6A1):c.904G>C (p.Gly302Arg)	COL6A1	Pathogenic	21	47409666	47409666	G	C	criteria provided, single submitter	ClinGen:CA274953
single nucleotide variant	NM_001848.3(COL6A1):c.957+2T>C	COL6A1	Pathogenic	21	47410200	47410200	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274971
single nucleotide variant	NM_001848.3(COL6A1):c.1003-2A>G	COL6A1	Pathogenic	21	47410685	47410685	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA208649
single nucleotide variant	NM_001848.3(COL6A1):c.842G>A (p.Gly281Glu)	COL6A1	Pathogenic	21	47409035	47409035	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603503
single nucleotide variant	NM_001848.3(COL6A1):c.1022G>T (p.Gly341Val)	COL6A1	Pathogenic	21	47410706	47410706	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604208,UniProtKB:P12109#VAR_058221
single nucleotide variant	NM_001848.3(COL6A1):c.914G>A (p.Gly305Glu)	COL6A1	Likely pathogenic	21	47409676	47409676	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604561
single nucleotide variant	NM_001848.3(COL6A1):c.1611+1G>A	COL6A1	Pathogenic	21	47418348	47418348	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604636
single nucleotide variant	NM_001848.3(COL6A1):c.805G>A (p.Gly269Arg)	COL6A1	Pathogenic/Likely pathogenic	21	47408998	47408998	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604778