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
Duplication	NM_004006.3(DMD):c.6670_6673dup (p.Leu2225fs)	DMD	Pathogenic	X	31950285	31950286	A	AAAAC	criteria provided, single submitter	ClinGen:CA275280
single nucleotide variant	NM_004006.3(DMD):c.6982A>T (p.Lys2328Ter)	DMD	Pathogenic	X	31893421	31893421	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275285
single nucleotide variant	NM_001849.4(COL6A2):c.801+1G>A	COL6A2	Pathogenic	21	47533988	47533988	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275306
Duplication	NM_004006.3(DMD):c.291dup (p.Asp98Ter)	DMD	Pathogenic	X	32841477	32841478	C	CA	criteria provided, single submitter	ClinGen:CA275307
Insertion	NM_170707.4(LMNA):c.886_887insA (p.Arg296fs)	LMNA	Pathogenic	1	156105053	156105054	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA275309
Duplication	NM_004006.3(DMD):c.7247dup (p.Leu2416fs)	DMD	Pathogenic	X	31838153	31838154	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA275312
Deletion	NM_004006.3(DMD):c.7295_7296del (p.Thr2432fs)	DMD	Pathogenic	X	31838105	31838106	TGG	T	criteria provided, single submitter	ClinGen:CA275313
Deletion	NM_004006.3(DMD):c.7444del (p.Thr2483fs)	DMD	Pathogenic	X	31792175	31792175	AG	A	criteria provided, single submitter	ClinGen:CA275314
Deletion	NM_004006.3(DMD):c.8184del (p.Lys2729fs)	DMD	Pathogenic	X	31645823	31645823	TG	T	criteria provided, single submitter	ClinGen:CA275318
single nucleotide variant	NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter)	LAMA2	Pathogenic	6	129807679	129807679	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275319