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
Deletion	NM_004006.3(DMD):c.93+1_93+5del	DMD	Pathogenic	X	33038251	33038255	TCTTAC	T	criteria provided, single submitter	ClinGen:CA10606830
Deletion	NM_024301.5(FKRP):c.738_749del (p.Pro247_Thr250del)	FKRP	Likely pathogenic	19	47259444	47259455	CCCCCGCTGGCCA	C	criteria provided, single submitter	ClinGen:CA10606831
single nucleotide variant	NM_004006.3(DMD):c.4845+1G>T	DMD	Pathogenic	X	32398626	32398626	C	A	criteria provided, single submitter	ClinGen:CA10606838
single nucleotide variant	NM_004006.3(DMD):c.9975-2A>C	DMD	Pathogenic	X	31198600	31198600	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606839
single nucleotide variant	NM_000426.4(LAMA2):c.5605G>T (p.Glu1869Ter)	LAMA2	Pathogenic	6	129723511	129723511	G	T	criteria provided, single submitter	ClinGen:CA10606868
single nucleotide variant	NM_001849.4(COL6A2):c.1458+1G>A	COL6A2	Pathogenic	21	47541038	47541038	G	A	criteria provided, single submitter	ClinGen:CA10606869
single nucleotide variant	NM_001848.3(COL6A1):c.957+1G>A	COL6A1	Pathogenic	21	47410199	47410199	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606879
single nucleotide variant	NM_004006.3(DMD):c.358-1G>A	DMD	Pathogenic	X	32834758	32834758	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606939
single nucleotide variant	NM_182961.4(SYNE1):c.13060C>T (p.Gln4354Ter)	SYNE1	Likely pathogenic	6	152652760	152652760	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606944
Duplication	NM_004006.3(DMD):c.1128dup (p.Asp377fs)	DMD	Pathogenic	X	32663101	32663102	C	CT	criteria provided, single submitter	ClinGen:CA10606990