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.8027+1G>A	DMD	Pathogenic	X	31676106	31676106	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412655709
single nucleotide variant	NM_004006.3(DMD):c.4501C>T (p.Gln1501Ter)	DMD	Pathogenic	X	32407635	32407635	G	A	criteria provided, single submitter	ClinGen:CA412662973
Deletion	NM_004006.3(DMD):c.3817del (p.Ser1273fs)	DMD	Pathogenic	X	32459401	32459401	GA	G	criteria provided, single submitter	ClinGen:CA658799663
Deletion	NM_004006.3(DMD):c.3713del (p.Lys1238fs)	DMD	Pathogenic	X	32466646	32466646	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA515714987
single nucleotide variant	NM_004006.3(DMD):c.1366A>T (p.Lys456Ter)	DMD	Pathogenic	X	32632536	32632536	T	A	criteria provided, single submitter	ClinGen:CA412670345
single nucleotide variant	NM_004006.3(DMD):c.1292G>A (p.Trp431Ter)	DMD	Pathogenic	X	32662288	32662288	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412660927
single nucleotide variant	NM_004006.3(DMD):c.1075G>T (p.Glu359Ter)	DMD	Pathogenic/Likely pathogenic	X	32663155	32663155	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412661971
single nucleotide variant	NM_004006.3(DMD):c.31+1G>C	DMD	Pathogenic	X	33229398	33229398	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA412675097
Duplication	NM_182961.4(SYNE1):c.20006dup (p.Ala6670fs)	SYNE1	Pathogenic/Likely pathogenic	6	152560728	152560729	C	CT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.5533G>T (p.Glu1845Ter)	DMD	Pathogenic	X	32364113	32364113	C	A	criteria provided, single submitter	-