筋ジストロフィー

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.5950C>T (p.Arg1984Ter)	COL6A3	Pathogenic/Likely pathogenic	2	238272009	238272009	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000002.12:g.(?_237362747)_(237372158_?)del	COL6A3	Likely pathogenic	2	238271390	238280801	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004369.4(COL6A3):c.6064-2A>G	COL6A3	Pathogenic	2	238270476	238270476	T	C	criteria provided, single submitter	ClinGen:CA351218024
single nucleotide variant	NM_004369.4(COL6A3):c.6156+1G>A	COL6A3	Pathogenic	2	238270381	238270381	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351217634
single nucleotide variant	NM_004369.4(COL6A3):c.6157-2A>C	COL6A3	Pathogenic	2	238269819	238269819	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602842
single nucleotide variant	NM_004369.4(COL6A3):c.6157G>T (p.Gly2053Cys)	COL6A3	Pathogenic	2	238269817	238269817	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004369.4(COL6A3):c.6158G>T (p.Gly2053Val)	COL6A3	Pathogenic/Likely pathogenic	2	238269816	238269816	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602841
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_004369.4(COL6A3):c.6181C>T (p.Arg2061Ter)	COL6A3	Pathogenic	2	238269793	238269793	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA205930
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