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_004006.3(DMD):c.7310-1G>A	DMD	Pathogenic	X	31792310	31792310	C	T	criteria provided, single submitter	ClinGen:CA412659203
single nucleotide variant	NM_001848.3(COL6A1):c.1021G>C (p.Gly341Arg)	COL6A1	Likely pathogenic	21	47410705	47410705	G	C	criteria provided, single submitter	ClinGen:CA410523368
single nucleotide variant	NM_001849.4(COL6A2):c.2627G>A (p.Arg876His)	COL6A2	Likely pathogenic	21	47552033	47552033	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA321979833
Deletion	NM_001077365.2(POMT1):c.1552del (p.Leu518fs)	POMT1	Likely pathogenic	9	134394840	134394840	AC	A	criteria provided, single submitter	ClinGen:CA658683554
single nucleotide variant	NM_133642.5(LARGE1):c.283C>T (p.Arg95Ter)	LARGE1	Pathogenic	22	34046478	34046478	G	A	criteria provided, single submitter	ClinGen:CA10203097
single nucleotide variant	NM_004006.3(DMD):c.2292+2T>G	DMD	Likely pathogenic	X	32536123	32536123	A	C	criteria provided, single submitter	ClinGen:CA412663580
single nucleotide variant	NM_001079802.2(FKTN):c.648-1243G>T	FKTN	Pathogenic/Likely pathogenic	9	108368857	108368857	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683548
Deletion	NM_004006.3(DMD):c.2804-1del	DMD	Pathogenic	X	32490427	32490427	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684291
single nucleotide variant	NM_000426.4(LAMA2):c.3237C>A (p.Cys1079Ter)	LAMA2	Pathogenic	6	129634068	129634068	C	A	criteria provided, single submitter	ClinGen:CA365611766
single nucleotide variant	NM_004006.3(DMD):c.2950-2A>T	DMD	Pathogenic	X	32486829	32486829	T	A	criteria provided, single submitter	ClinGen:CA412667201