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.4845+2T>G	DMD	Pathogenic	X	32398625	32398625	A	C	criteria provided, single submitter	ClinGen:CA412660874
single nucleotide variant	NM_004006.3(DMD):c.9560A>G (p.Asp3187Gly)	DMD	Pathogenic	X	31227618	31227618	T	C	criteria provided, single submitter	ClinGen:CA412649724
single nucleotide variant	NM_004006.3(DMD):c.7899G>A (p.Trp2633Ter)	DMD	Pathogenic	X	31676235	31676235	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412655998
single nucleotide variant	NM_004006.3(DMD):c.8880G>A (p.Trp2960Ter)	DMD	Pathogenic	X	31496280	31496280	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412653956
Deletion	NM_004006.3(DMD):c.4060del (p.Leu1354fs)	DMD	Pathogenic	X	32456369	32456369	AG	A	criteria provided, single submitter	ClinGen:CA645509388
single nucleotide variant	NM_004006.3(DMD):c.8197G>T (p.Glu2733Ter)	DMD	Pathogenic	X	31645810	31645810	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412657091
single nucleotide variant	NM_170707.4(LMNA):c.234G>T (p.Lys78Asn)	LMNA	Likely pathogenic	1	156084943	156084943	G	T	criteria provided, single submitter	ClinGen:CA342808375
single nucleotide variant	NM_004369.4(COL6A3):c.4624C>T (p.Gln1542Ter)	COL6A3	Likely pathogenic	2	238277482	238277482	G	A	criteria provided, single submitter	ClinGen:CA351192731
single nucleotide variant	NM_001849.4(COL6A2):c.855+1G>C	COL6A2	Pathogenic/Likely pathogenic	21	47535840	47535840	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA410524952
single nucleotide variant	NM_001159699.2(FHL1):c.550-2A>G	FHL1	Pathogenic	X	135290612	135290612	A	G	criteria provided, single submitter	ClinGen:CA414608683,OMIM:300163.0018