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.8914C>T (p.Gln2972Ter)	DMD	Pathogenic	X	31496246	31496246	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616658
single nucleotide variant	NM_004006.3(DMD):c.6118-1G>A	DMD	Pathogenic	X	32305819	32305819	C	T	criteria provided, single submitter	ClinGen:CA16616663
Deletion	NM_004006.3(DMD):c.9434del (p.Met3145fs)	DMD	Pathogenic	X	31227744	31227744	CA	C	criteria provided, single submitter	ClinGen:CA16616664
Indel	NM_004006.3(DMD):c.8391-1_8391delinsAA	DMD	Pathogenic/Likely pathogenic	X	31515061	31515062	CC	TT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616666
Deletion	NM_004006.3(DMD):c.5884_5891del (p.Lys1962fs)	DMD	Pathogenic	X	32360248	32360255	AGCAAATTT	A	criteria provided, single submitter	ClinGen:CA16616668
single nucleotide variant	NM_004006.3(DMD):c.5647A>T (p.Lys1883Ter)	DMD	Pathogenic	X	32361343	32361343	T	A	criteria provided, single submitter	ClinGen:CA16616669
Deletion	NM_004006.3(DMD):c.4934_4937del (p.Lys1645fs)	DMD	Pathogenic	X	32383225	32383228	CTCCT	C	criteria provided, single submitter	ClinGen:CA16616671
Deletion	NM_004006.3(DMD):c.6205del (p.Val2069fs)	DMD	Pathogenic	X	32305731	32305731	AC	A	criteria provided, single submitter	ClinGen:CA16616672
Duplication	NM_004006.3(DMD):c.2733dup (p.Val912fs)	DMD	Pathogenic	X	32503105	32503106	C	CA	criteria provided, single submitter	ClinGen:CA16616676
single nucleotide variant	NM_004006.3(DMD):c.4072-1G>T	DMD	Likely pathogenic	X	32430031	32430031	C	A	criteria provided, single submitter	ClinGen:CA16616681