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.76C>T (p.Gln26Ter)	COL6A3	Pathogenic	2	238305385	238305385	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2189961
single nucleotide variant	NM_004369.4(COL6A3):c.749C>A (p.Ser250Ter)	COL6A3	Likely pathogenic	2	238296788	238296788	G	T	criteria provided, single submitter	ClinGen:CA351224129
Deletion	NM_004369.4(COL6A3):c.761del (p.Gly254fs)	COL6A3	Pathogenic/Likely pathogenic	2	238296776	238296776	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2189782
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_004369.4(COL6A3):c.1699C>T (p.Gln567Ter)	COL6A3	Pathogenic	2	238289756	238289756	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_004369.4(COL6A3):c.1897+1G>T	COL6A3	Likely pathogenic	2	238289557	238289557	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004369.4(COL6A3):c.2277T>G (p.Tyr759Ter)	COL6A3	Pathogenic	2	238287499	238287499	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_004369.4(COL6A3):c.2431C>T (p.Gln811Ter)	COL6A3	Pathogenic	2	238287345	238287345	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_004369.4(COL6A3):c.2506C>T (p.Arg836Ter)	COL6A3	Pathogenic/Likely pathogenic	2	238285979	238285979	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2189382
single nucleotide variant	NM_004369.4(COL6A3):c.2620C>T (p.Arg874Ter)	COL6A3	Pathogenic	2	238285865	238285865	G	A	criteria provided, single submitter	ClinGen:CA351211117