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_000426.4(LAMA2):c.3924+2T>C	LAMA2	Pathogenic	6	129637097	129637097	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA365613577,OMIM:156225.0003
single nucleotide variant	NM_000426.4(LAMA2):c.5234+1G>A	LAMA2	Pathogenic	6	129712799	129712799	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3993804
Deletion	NM_182961.4(SYNE1):c.23492del (p.Glu7831fs)	SYNE1	Pathogenic	6	152497664	152497664	CT	C	criteria provided, single submitter	ClinGen:CA658657631
Deletion	NM_182961.4(SYNE1):c.22709_22763del (p.Glu7570fs)	SYNE1	Pathogenic/Likely pathogenic	6	152529168	152529222	ACTCATGGGGAGGTAGGACACTTCAACCAACCATTTACGAAGCTTTTCTGCCATCT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657632
Deletion	NM_182961.4(SYNE1):c.16085_16092del (p.Ile5362fs)	SYNE1	Pathogenic	6	152642517	152642524	TTAGGAGAA	T	criteria provided, single submitter	ClinGen:CA658657634
single nucleotide variant	NM_182961.4(SYNE1):c.13390C>T (p.Gln4464Ter)	SYNE1	Likely pathogenic	6	152652430	152652430	G	A	criteria provided, single submitter	ClinGen:CA366101796
single nucleotide variant	NM_182961.4(SYNE1):c.4939C>T (p.Gln1647Ter)	SYNE1	Pathogenic	6	152749377	152749377	G	A	criteria provided, single submitter	ClinGen:CA366140471
Deletion	NM_182961.4(SYNE1):c.3842del (p.Lys1281fs)	SYNE1	Pathogenic	6	152763376	152763376	CT	C	criteria provided, single submitter	ClinGen:CA658657636
Deletion	NM_001077365.2(POMT1):c.574_575del (p.Leu192fs)	POMT1	Likely pathogenic	9	134385164	134385165	ACT	A	criteria provided, single submitter	ClinGen:CA658657913
Deletion	NM_001849.4(COL6A2):c.2646del (p.Phe882fs)	COL6A2	Likely pathogenic	21	47552050	47552050	GT	G	criteria provided, single submitter	ClinGen:CA658658895