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
Indel	NM_004006.3(DMD):c.14_15delinsT (p.Glu5fs)	DMD	Pathogenic	X	33229415	33229416	TT	A	criteria provided, single submitter	ClinGen:CA274909
Deletion	NM_170707.4(LMNA):c.48del (p.Ser17fs)	LMNA	Pathogenic	1	156084756	156084756	GC	G	criteria provided, single submitter	ClinGen:CA018155
Duplication	NM_020451.3(SELENON):c.44_72dup (p.Arg25fs)	SELENON	Pathogenic	1	26126761	26126762	C	CCCGGCCCCGCCGCGCAGCCTCCCGCGCCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA274920
Duplication	NM_020451.3(SELENON):c.13_22dup (p.Gln8fs)	SELENON	Pathogenic	1	26126724	26126725	G	GGGCCGGGCCC	criteria provided, multiple submitters, no conflicts	ClinGen:CA274921,OMIM:606210.0013
single nucleotide variant	NM_004006.3(DMD):c.1093C>T (p.Gln365Ter)	DMD	Pathogenic	X	32663137	32663137	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274935
Deletion	NM_004006.3(DMD):c.1070del (p.Ser357fs)	DMD	Pathogenic	X	32663160	32663160	AG	A	criteria provided, single submitter	ClinGen:CA274938
Insertion	NM_001079802.1(FKTN):c.4375_4376ins3062	FKTN	Pathogenic	9	108401920	108401921	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001848.3(COL6A1):c.904G>C (p.Gly302Arg)	COL6A1	Pathogenic	21	47409666	47409666	G	C	criteria provided, single submitter	ClinGen:CA274953
single nucleotide variant	NM_004006.3(DMD):c.1286C>G (p.Ser429Ter)	DMD	Pathogenic	X	32662294	32662294	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274957
single nucleotide variant	NM_004006.3(DMD):c.1150-2A>G	DMD	Pathogenic	X	32662432	32662432	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274958