筋ジストロフィー

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
Deletion	NM_004006.3(DMD):c.10453_10454del (p.Leu3485fs)	DMD	Pathogenic	X	31187659	31187660	CAG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004006.3(DMD):c.10454del (p.Leu3485fs)	DMD	Pathogenic	X	31187659	31187659	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA345429,LOVD 3:DMD_000213,OMIM:300377.0009
single nucleotide variant	NM_004006.3(DMD):c.1048G>T (p.Glu350Ter)	DMD	Pathogenic	X	32663182	32663182	C	A	criteria provided, single submitter	ClinGen:CA266870
Deletion	NM_004006.3(DMD):c.10625del (p.Pro3542fs)	DMD	Pathogenic	X	31165564	31165564	AG	A	criteria provided, single submitter	ClinGen:CA266874
single nucleotide variant	NM_004006.3(DMD):c.10797+5G>A	DMD	Pathogenic/Likely pathogenic	X	31165387	31165387	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA222283
single nucleotide variant	NM_004006.3(DMD):c.1261C>T (p.Gln421Ter)	DMD	Pathogenic	X	32662319	32662319	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA266876
single nucleotide variant	NM_004006.3(DMD):c.1286C>A (p.Ser429Ter)	DMD	Pathogenic	X	32662294	32662294	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA266879
Duplication	NM_004006.3(DMD):c.1306dup (p.Val436fs)	DMD	Pathogenic	X	32662273	32662274	A	AC	criteria provided, single submitter	ClinGen:CA266882
single nucleotide variant	NM_004006.3(DMD):c.1332-9A>G	DMD	Pathogenic	X	32632579	32632579	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA266883
Deletion	NM_004006.3(DMD):c.1371del (p.Glu459fs)	DMD	Pathogenic	X	32632531	32632531	TC	T	criteria provided, single submitter	ClinGen:CA266885