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_133642.5(LARGE1):c.1102C>T (p.Gln368Ter)	LARGE1	Pathogenic	22	33777934	33777934	G	A	criteria provided, single submitter	ClinGen:CA222788
single nucleotide variant	NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)	POMT1	Pathogenic	9	134388630	134388630	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA222989
Indel	NM_001077365.2(POMT1):c.1214_1215delinsTC (p.Glu405Val)	POMT1	Likely pathogenic	9	134390851	134390852	AG	TC	criteria provided, single submitter	ClinGen:CA222991
single nucleotide variant	NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter)	POMT1	Pathogenic	9	134385674	134385674	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA223003
single nucleotide variant	NM_013382.7(POMT2):c.1417C>T (p.Arg473Ter)	POMT2	Pathogenic	14	77751891	77751891	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA223068
single nucleotide variant	NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter)	SELENON	Pathogenic	1	26139211	26139211	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA223582
single nucleotide variant	NM_020451.3(SELENON):c.301+1G>T	SELENON	Pathogenic	1	26127652	26127652	G	T	criteria provided, single submitter	ClinGen:CA223588
single nucleotide variant	NM_024301.5(FKRP):c.941C>T (p.Thr314Met)	FKRP	Pathogenic	19	47259648	47259648	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA202828
single nucleotide variant	NM_170707.4(LMNA):c.1620G>A (p.Met540Ile)	LMNA	Pathogenic	1	156107456	156107456	G	A	criteria provided, single submitter	ClinGen:CA017595
single nucleotide variant	NM_024301.5(FKRP):c.1A>G (p.Met1Val)	FKRP	Pathogenic	19	47258708	47258708	A	G	criteria provided, single submitter	ClinGen:CA150773,OMIM:606596.0019