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_001849.4(COL6A2):c.855+1G>A	COL6A2	Pathogenic	21	47535840	47535840	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043243
single nucleotide variant	NM_004006.3(DMD):c.2168+1G>A	DMD	Pathogenic	X	32563275	32563275	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043316
single nucleotide variant	NM_001849.4(COL6A2):c.736-2A>G	COL6A2	Pathogenic/Likely pathogenic	21	47533920	47533920	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043569
single nucleotide variant	NM_004006.3(DMD):c.5699T>G (p.Leu1900Ter)	DMD	Pathogenic	X	32361291	32361291	A	C	criteria provided, single submitter	ClinGen:CA16043588
single nucleotide variant	NM_004006.3(DMD):c.1637G>A (p.Trp546Ter)	DMD	Pathogenic	X	32591929	32591929	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043590
Deletion	NM_004006.3(DMD):c.177del (p.Gln60fs)	DMD	Likely pathogenic	X	32867854	32867854	GC	G	criteria provided, single submitter	ClinGen:CA16043591
Deletion	NM_182961.3(SYNE1):c.22193delG (p.Gly7398Aspfs)	SYNE1	Likely pathogenic	6	152536194	152536194	TC	T	criteria provided, single submitter	ClinGen:CA16043799
single nucleotide variant	NM_001848.3(COL6A1):c.904-2A>G	COL6A1	Pathogenic/Likely pathogenic	21	47409664	47409664	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043819
Duplication	NM_004006.3(DMD):c.79dup (p.Ala27fs)	DMD	Likely pathogenic	X	33038269	33038270	G	GC	criteria provided, single submitter	ClinGen:CA16043826
single nucleotide variant	NM_182961.4(SYNE1):c.19899C>G (p.Tyr6633Ter)	SYNE1	Pathogenic/Likely pathogenic	6	152560836	152560836	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603269