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.805G>A (p.Gly269Arg)	COL6A1	Pathogenic/Likely pathogenic	21	47408998	47408998	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604778
single nucleotide variant	NM_001849.4(COL6A2):c.857G>T (p.Gly286Val)	COL6A2	Likely pathogenic	21	47535924	47535924	G	T	criteria provided, single submitter	ClinGen:CA10604780
single nucleotide variant	NM_004006.3(DMD):c.10062T>A (p.Tyr3354Ter)	DMD	Pathogenic	X	31198511	31198511	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604800
single nucleotide variant	NM_004369.4(COL6A3):c.6354+1G>T	COL6A3	Pathogenic	2	238267848	238267848	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604809
single nucleotide variant	NM_182961.4(SYNE1):c.24577C>T (p.Arg8193Ter)	SYNE1	Pathogenic	6	152470677	152470677	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA4053145,OMIM:608441.0018
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_024301.5(FKRP):c.313C>T (p.Gln105Ter)	FKRP	Pathogenic/Likely pathogenic	19	47259020	47259020	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA9532140
single nucleotide variant	NM_004369.4(COL6A3):c.6175G>T (p.Gly2059Cys)	COL6A3	Pathogenic	2	238269799	238269799	C	A	criteria provided, single submitter	ClinGen:CA10604870
single nucleotide variant	NM_001849.4(COL6A2):c.785G>A (p.Gly262Asp)	COL6A2	Pathogenic	21	47533971	47533971	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604901
single nucleotide variant	NM_004369.4(COL6A3):c.6193G>C (p.Gly2065Arg)	COL6A3	Pathogenic/Likely pathogenic	2	238269781	238269781	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604911