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.930+1G>A	COL6A1	Pathogenic	21	47409693	47409693	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604839
single nucleotide variant	NM_001848.3(COL6A1):c.833G>A (p.Gly278Glu)	COL6A1	Likely pathogenic	21	47409026	47409026	G	A	criteria provided, single submitter	ClinGen:CA10605117
Deletion	NM_001848.3(COL6A1):c.928_930del (p.Lys310del)	COL6A1	Pathogenic/Likely pathogenic	21	47409688	47409690	GAGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605126
Deletion	NM_001848.3(COL6A1):c.315_349del (p.Met106fs)	COL6A1	Pathogenic	21	47404267	47404301	CGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA	C	criteria provided, single submitter	ClinGen:CA10605169
Deletion	NM_001848.3(COL6A1):c.1039_1052del (p.Lys346_Gly347insTer)	COL6A1	Pathogenic	21	47410723	47410736	GGGCTCGCCCGGGTT	G	criteria provided, single submitter	ClinGen:CA10605343
single nucleotide variant	NM_001848.3(COL6A1):c.1021G>T (p.Gly341Cys)	COL6A1	Pathogenic	21	47410705	47410705	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605376
single nucleotide variant	NM_001848.3(COL6A1):c.1003-1G>A	COL6A1	Pathogenic	21	47410686	47410686	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605388
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
single nucleotide variant	NM_001848.3(COL6A1):c.1002+1G>T	COL6A1	Pathogenic	21	47410337	47410337	G	T	criteria provided, single submitter	ClinGen:CA10605839
single nucleotide variant	NM_001848.3(COL6A1):c.1002+1G>A	COL6A1	Pathogenic	21	47410337	47410337	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605928