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_182961.4(SYNE1):c.12121C>T (p.Arg4041Ter)	SYNE1	Pathogenic	6	152665320	152665320	G	A	criteria provided, single submitter	ClinGen:CA10606167
single nucleotide variant	NM_004006.3(DMD):c.9563+1G>A	DMD	Pathogenic	X	31227614	31227614	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606200,OMIM:300377.0066
single nucleotide variant	NM_004369.4(COL6A3):c.9193C>T (p.Gln3065Ter)	COL6A3	Pathogenic	2	238243305	238243305	G	A	criteria provided, single submitter	ClinGen:CA10606202
single nucleotide variant	NM_001849.4(COL6A2):c.1054-2A>G	COL6A2	Pathogenic/Likely pathogenic	21	47537786	47537786	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606246
single nucleotide variant	NM_004006.3(DMD):c.4483C>T (p.Gln1495Ter)	DMD	Pathogenic	X	32407653	32407653	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606266
Insertion	NM_024301.5(FKRP):c.1269_1270insT (p.Asn424Ter)	FKRP	Pathogenic	19	47259976	47259977	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA9532286
Deletion	NM_024301.5(FKRP):c.1267del (p.Arg423fs)	FKRP	Pathogenic	19	47259970	47259970	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606326
single nucleotide variant	NM_004369.4(COL6A3):c.6355-1G>A	COL6A3	Likely pathogenic	2	238267732	238267732	C	T	criteria provided, single submitter	ClinGen:CA10606331
single nucleotide variant	NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu)	COL6A2	Pathogenic/Likely pathogenic	21	47535832	47535832	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606332
Deletion	NM_024301.5(FKRP):c.1141del (p.Ala381fs)	FKRP	Pathogenic	19	47259843	47259843	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA9532250