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
Deletion	NM_004369.4(COL6A3):c.2985_2988del (p.Ala996fs)	COL6A3	Pathogenic	2	238285497	238285500	CTGCA	C	criteria provided, single submitter	-
Deletion	NM_004369.4(COL6A3):c.4124del (p.Gln1375fs)	COL6A3	Pathogenic	2	238280536	238280536	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604256
single nucleotide variant	NM_004369.4(COL6A3):c.4366C>T (p.Arg1456Ter)	COL6A3	Pathogenic	2	238277740	238277740	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2188910
single nucleotide variant	NM_004369.4(COL6A3):c.4390C>T (p.Arg1464Ter)	COL6A3	Likely pathogenic	2	238277716	238277716	G	A	criteria provided, single submitter	ClinGen:CA67816816
single nucleotide variant	NM_004369.4(COL6A3):c.4624C>T (p.Gln1542Ter)	COL6A3	Likely pathogenic	2	238277482	238277482	G	A	criteria provided, single submitter	ClinGen:CA351192731
single nucleotide variant	NM_004369.4(COL6A3):c.4835C>A (p.Ser1612Ter)	COL6A3	Pathogenic	2	238277271	238277271	G	T	criteria provided, single submitter	ClinGen:CA351190821
single nucleotide variant	NM_004369.4(COL6A3):c.5010T>A (p.Tyr1670Ter)	COL6A3	Pathogenic	2	238275820	238275820	A	T	criteria provided, single submitter	ClinGen:CA10604186
single nucleotide variant	NM_004369.4(COL6A3):c.5036G>A (p.Gly1679Glu)	COL6A3	Pathogenic/Likely pathogenic	2	238275794	238275794	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA239569,UniProtKB:P12111#VAR_001910,OMIM:120250.0001
Deletion	NM_004369.4(COL6A3):c.5480del (p.Gly1827fs)	COL6A3	Pathogenic	2	238275350	238275350	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2188663
single nucleotide variant	NM_004369.4(COL6A3):c.5838+1G>T	COL6A3	Pathogenic/Likely pathogenic	2	238274340	238274340	C	A	criteria provided, multiple submitters, no conflicts	-