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.8390+1G>A	DMD	Pathogenic	X	31525397	31525397	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621360
single nucleotide variant	NM_004006.3(DMD):c.5448+1G>A	DMD	Likely pathogenic	X	32366522	32366522	C	T	criteria provided, single submitter	ClinGen:CA16621361
Deletion	NM_004006.3(DMD):c.4538_4541del (p.Ser1513fs)	DMD	Pathogenic	X	32404560	32404563	TTCAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621362
single nucleotide variant	NM_004006.3(DMD):c.3487C>T (p.Gln1163Ter)	DMD	Pathogenic	X	32472895	32472895	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621363
single nucleotide variant	NM_004006.3(DMD):c.2555G>A (p.Trp852Ter)	DMD	Pathogenic	X	32509461	32509461	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621364
single nucleotide variant	NM_170707.4(LMNA):c.158A>G (p.Glu53Gly)	LMNA	Pathogenic/Likely pathogenic	1	156084867	156084867	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621576
single nucleotide variant	NM_182914.3(SYNE2):c.4397G>A (p.Arg1466Gln)	SYNE2	Likely pathogenic	14	64470048	64470048	G	A	criteria provided, single submitter	ClinGen:CA16621659
single nucleotide variant	NM_001848.3(COL6A1):c.738G>A (p.Val246=)	COL6A1	Likely pathogenic	21	47407089	47407089	G	A	criteria provided, single submitter	ClinGen:CA16621794
single nucleotide variant	NM_000426.4(LAMA2):c.1027+1G>A	LAMA2	Likely pathogenic	6	129470242	129470242	G	A	criteria provided, single submitter	ClinGen:CA16621846
Deletion	NM_000426.4(LAMA2):c.6985_6988del (p.Thr2329fs)	LAMA2	Likely pathogenic	6	129781462	129781465	CACTG	C	criteria provided, single submitter	ClinGen:CA16621847