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.1602+1G>T	DMD	Pathogenic/Likely pathogenic	X	32613873	32613873	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412665244
single nucleotide variant	NM_001849.4(COL6A2):c.265C>T (p.Gln89Ter)	COL6A2	Pathogenic	21	47532042	47532042	C	T	criteria provided, single submitter	ClinGen:CA410520500
Deletion	NM_001849.4(COL6A2):c.796_801+6del	COL6A2	Pathogenic	21	47533982	47533993	GGACAGAAGGTAA	G	criteria provided, single submitter	ClinGen:CA658799472
single nucleotide variant	NM_004006.3(DMD):c.7661-1G>C	DMD	Pathogenic	X	31697704	31697704	C	G	criteria provided, single submitter	ClinGen:CA412657030
single nucleotide variant	NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter)	COL6A2	Pathogenic/Likely pathogenic	21	47542795	47542795	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10072065
Duplication	NM_004006.2(DMD):c.10453dup (p.Leu3485Profs)	DMD	Pathogenic	X	31187659	31187660	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799632
single nucleotide variant	NM_004006.3(DMD):c.4120G>T (p.Glu1374Ter)	DMD	Pathogenic	X	32429982	32429982	C	A	criteria provided, single submitter	ClinGen:CA412666549
single nucleotide variant	NM_001848.3(COL6A1):c.811C>T (p.Arg271Ter)	COL6A1	Pathogenic	21	47409004	47409004	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA410521397
Deletion	NM_004006.3(DMD):c.5139del (p.Glu1714fs)	DMD	Pathogenic	X	32382714	32382714	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799691
Deletion	NM_004006.3(DMD):c.365del (p.Asn122fs)	DMD	Pathogenic	X	32834750	32834750	AT	A	criteria provided, single submitter	ClinGen:CA658799684