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.8390+2T>C	DMD	Pathogenic	X	31525396	31525396	A	G	criteria provided, single submitter	ClinGen:CA347514
single nucleotide variant	NM_004006.3(DMD):c.8357G>A (p.Trp2786Ter)	DMD	Pathogenic	X	31525431	31525431	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347478
single nucleotide variant	NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter)	DMD	Pathogenic	X	31645969	31645969	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347572
single nucleotide variant	NM_004006.3(DMD):c.8027+2T>A	DMD	Pathogenic/Likely pathogenic	X	31676105	31676105	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347521
single nucleotide variant	NM_004006.3(DMD):c.7817G>A (p.Trp2606Ter)	DMD	Pathogenic	X	31697547	31697547	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347476
single nucleotide variant	NM_004006.3(DMD):c.7755G>A (p.Trp2585Ter)	DMD	Pathogenic	X	31697609	31697609	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347558
single nucleotide variant	NM_004006.3(DMD):c.7105G>T (p.Glu2369Ter)	DMD	Pathogenic	X	31854930	31854930	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347515
Duplication	NM_004006.3(DMD):c.6611dup (p.Arg2205fs)	DMD	Pathogenic	X	31986458	31986459	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA347562
Deletion	NM_004006.3(DMD):c.6128_6131del (p.Asp2043fs)	DMD	Pathogenic	X	32305805	32305808	ACTAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347585
single nucleotide variant	NM_004006.3(DMD):c.5917C>T (p.Gln1973Ter)	DMD	Pathogenic	X	32360222	32360222	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347552