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_004006.3(DMD):c.5371C>T (p.Gln1791Ter)	DMD	Pathogenic	X	32366600	32366600	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.8010G>A (p.Trp2670Ter)	DMD	Pathogenic	X	31676124	31676124	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004006.3(DMD):c.5390_5411del (p.Leu1797fs)	DMD	Pathogenic	X	32366560	32366581	CCCCTGCTGAATTTCAGCCTCCA	C	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.522_523del (p.His174fs)	DMD	Pathogenic	X	32834592	32834593	CTA	C	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.5867G>A (p.Trp1956Ter)	DMD	Pathogenic	X	32360272	32360272	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.264+1G>A	DMD	Pathogenic	X	32862899	32862899	C	T	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.5972del (p.Leu1991fs)	DMD	Pathogenic	X	32328344	32328344	CA	C	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.8061del (p.His2688fs)	DMD	Pathogenic	X	31645946	31645946	GA	G	criteria provided, single submitter	-
single nucleotide variant	NM_001077365.2(POMT1):c.699+67G>A	POMT1	Pathogenic/Likely pathogenic	9	134385450	134385450	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001849.4(COL6A2):c.893G>C (p.Gly298Ala)	COL6A2	Likely pathogenic	21	47535960	47535960	G	C	criteria provided, multiple submitters, no conflicts	-