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.6193G>A (p.Gly2065Ser)	COL6A3	Likely pathogenic	2	238269781	238269781	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA215987
single nucleotide variant	NM_004369.4(COL6A3):c.6210+1G>A	COL6A3	Pathogenic	2	238269763	238269763	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA222636,OMIM:120250.0004
single nucleotide variant	NM_004369.4(COL6A3):c.6212G>A (p.Gly2071Asp)	COL6A3	Likely pathogenic	2	238268801	238268801	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605883
single nucleotide variant	NM_004369.4(COL6A3):c.6220G>A (p.Gly2074Ser)	COL6A3	Pathogenic	2	238268793	238268793	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606535
single nucleotide variant	NM_004369.4(COL6A3):c.6230G>A (p.Gly2077Asp)	COL6A3	Pathogenic/Likely pathogenic	2	238268783	238268783	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351216671
single nucleotide variant	NM_004369.4(COL6A3):c.6230G>T (p.Gly2077Val)	COL6A3	Pathogenic	2	238268783	238268783	C	A	criteria provided, single submitter	ClinGen:CA351216678
single nucleotide variant	NM_004369.4(COL6A3):c.6238G>C (p.Gly2080Arg)	COL6A3	Pathogenic/Likely pathogenic	2	238268775	238268775	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA351216634
single nucleotide variant	NM_004369.4(COL6A3):c.6238G>A (p.Gly2080Ser)	COL6A3	Likely pathogenic	2	238268775	238268775	C	T	criteria provided, single submitter	ClinGen:CA351216635
single nucleotide variant	NM_004369.4(COL6A3):c.6239G>A (p.Gly2080Asp)	COL6A3	Pathogenic	2	238268774	238268774	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275040,UniProtKB:P12111#VAR_058261
single nucleotide variant	NM_004369.4(COL6A3):c.6248G>T (p.Gly2083Val)	COL6A3	Likely pathogenic	2	238268765	238268765	C	A	criteria provided, single submitter	ClinGen:CA351216598