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_001849.4(COL6A2):c.900+1G>C	COL6A2	Pathogenic	21	47535968	47535968	G	C	criteria provided, single submitter	ClinGen:CA10606544
single nucleotide variant	NM_001849.4(COL6A2):c.955-1G>A	COL6A2	Pathogenic/Likely pathogenic	21	47536683	47536683	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606550
Deletion	NM_001849.4(COL6A2):c.2284_2285del (p.Met762fs)	COL6A2	Pathogenic	21	47546013	47546014	CAT	C	criteria provided, single submitter	ClinGen:CA10072501
single nucleotide variant	NM_004006.3(DMD):c.8669-1G>C	DMD	Pathogenic	X	31496492	31496492	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606618
Duplication	NM_004006.3(DMD):c.10650_10651dup (p.Gln3551fs)	DMD	Pathogenic	X	31165537	31165538	T	TGG	criteria provided, single submitter	ClinGen:CA10606619
single nucleotide variant	NM_000426.4(LAMA2):c.2352T>G (p.Tyr784Ter)	LAMA2	Pathogenic	6	129591798	129591798	T	G	criteria provided, single submitter	ClinGen:CA10606627
Deletion	NM_000426.4(LAMA2):c.1032_1042del (p.Cys344fs)	LAMA2	Pathogenic	6	129475650	129475660	GCATGCAATTGT	G	criteria provided, single submitter	ClinGen:CA10606645
single nucleotide variant	NM_182961.4(SYNE1):c.17167C>T (p.Gln5723Ter)	SYNE1	Likely pathogenic	6	152631005	152631005	G	A	criteria provided, single submitter	ClinGen:CA10606687
Deletion	NM_001849.4(COL6A2):c.1751del (p.Pro584fs)	COL6A2	Pathogenic	21	47544810	47544810	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606706
single nucleotide variant	NM_001849.4(COL6A2):c.802-2A>G	COL6A2	Pathogenic/Likely pathogenic	21	47535784	47535784	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606708