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
single nucleotide variant	NM_182961.4(SYNE1):c.8866C>T (p.Gln2956Ter)	SYNE1	Pathogenic	6	152702284	152702284	G	A	criteria provided, single submitter	ClinGen:CA10604917
single nucleotide variant	NM_004006.3(DMD):c.649+1G>T	DMD	Pathogenic	X	32827609	32827609	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604926
single nucleotide variant	NM_004006.3(DMD):c.457C>T (p.Gln153Ter)	DMD	Pathogenic	X	32834658	32834658	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604955
single nucleotide variant	NM_000426.4(LAMA2):c.4048C>T (p.Arg1350Ter)	LAMA2	Pathogenic	6	129637306	129637306	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3993416
Duplication	NM_182961.4(SYNE1):c.19514dup (p.Tyr6505Ter)	SYNE1	Pathogenic	6	152570353	152570354	G	GT	criteria provided, single submitter	ClinGen:CA10604989
single nucleotide variant	NM_004006.3(DMD):c.5739+1G>T	DMD	Pathogenic/Likely pathogenic	X	32361250	32361250	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605032
Deletion	NM_004006.3(DMD):c.3238del (p.Asp1080fs)	DMD	Pathogenic	X	32482741	32482741	TC	T	criteria provided, single submitter	ClinGen:CA10605046
Deletion	NM_004006.3(DMD):c.10361del (p.Tyr3454fs)	DMD	Pathogenic	X	31190498	31190498	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605088
single nucleotide variant	NM_001848.3(COL6A1):c.833G>A (p.Gly278Glu)	COL6A1	Likely pathogenic	21	47409026	47409026	G	A	criteria provided, single submitter	ClinGen:CA10605117
single nucleotide variant	NM_170707.4(LMNA):c.83G>A (p.Arg28Gln)	LMNA	Pathogenic/Likely pathogenic	1	156084792	156084792	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605120