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_004006.3(DMD):c.5024T>A (p.Leu1675Ter)	DMD	Pathogenic	X	32383138	32383138	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.2257G>T (p.Glu753Ter)	DMD	Pathogenic	X	32536160	32536160	C	A	criteria provided, multiple submitters, no conflicts	-
Indel	NM_004006.3(DMD):c.468delinsGG (p.Ile157fs)	DMD	Pathogenic	X	32834647	32834647	T	CC	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.1602G>A (p.Lys534=)	DMD	Pathogenic/Likely pathogenic	X	32613874	32613874	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001849.4(COL6A2):c.2133C>G (p.Tyr711Ter)	COL6A2	Likely pathogenic	21	47545862	47545862	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.15347T>A (p.Leu5116Ter)	SYNE1	Likely pathogenic	6	152647184	152647184	A	T	criteria provided, single submitter	-
Deletion	NM_182961.4(SYNE1):c.14223del (p.Ser4742fs)	SYNE1	Likely pathogenic	6	152651597	152651597	TG	T	criteria provided, single submitter	-
Indel	NM_001077365.2(POMT1):c.1552_1569delinsTGACGTCCTGCTGACG (p.Leu518_Arg523delinsTer)	POMT1	Likely pathogenic	9	134394841	134394858	CTCAGCTTCATGGCGAGA	TGACGTCCTGCTGACG	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.7660+1G>C	DMD	Pathogenic/Likely pathogenic	X	31747747	31747747	C	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001849.4(COL6A2):c.1055delG	COL6A2	Pathogenic	21	47537787	47537787	AG	A	criteria provided, single submitter	-