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.994A>T (p.Arg332Ter)	SYNE1	Likely pathogenic	6	152809584	152809584	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.9634G>T (p.Glu3212Ter)	DMD	Pathogenic	X	31224714	31224714	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004006.3(DMD):c.9180del (p.Trp3061fs)	DMD	Pathogenic	X	31341759	31341759	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.8524C>T (p.Gln2842Ter)	DMD	Pathogenic	X	31514928	31514928	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.6874G>T (p.Glu2292Ter)	DMD	Pathogenic	X	31947751	31947751	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.6276C>G (p.Tyr2092Ter)	DMD	Pathogenic	X	32305660	32305660	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.3856G>T (p.Glu1286Ter)	DMD	Pathogenic	X	32459362	32459362	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.1638G>A (p.Trp546Ter)	DMD	Pathogenic	X	32591928	32591928	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_017739.4(POMGNT1):c.991C>T (p.Gln331Ter)	POMGNT1	Pathogenic	1	46659271	46659271	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004369.4(COL6A3):c.8076T>G (p.Tyr2692Ter)	COL6A3	Likely pathogenic	2	238249483	238249483	A	C	criteria provided, single submitter	-