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_024301.5(FKRP):c.1394A>C (p.Tyr465Ser)	FKRP	Pathogenic	19	47260101	47260101	A	C	criteria provided, single submitter	ClinGen:CA16608282
single nucleotide variant	NM_004006.3(DMD):c.5758C>T (p.Gln1920Ter)	DMD	Pathogenic	X	32360381	32360381	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608442
single nucleotide variant	NM_001848.3(COL6A1):c.859G>A (p.Gly287Arg)	COL6A1	Pathogenic/Likely pathogenic	21	47409522	47409522	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608537
single nucleotide variant	NM_001848.3(COL6A1):c.741C>A (p.Cys247Ter)	COL6A1	Likely pathogenic	21	47407415	47407415	C	A	criteria provided, single submitter	ClinGen:CA16608563
single nucleotide variant	NM_001849.4(COL6A2):c.1572+1G>A	COL6A2	Pathogenic/Likely pathogenic	21	47542073	47542073	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608565
single nucleotide variant	NM_000117.3(EMD):c.419T>A (p.Leu140Ter)	EMD	Pathogenic	X	153609132	153609132	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608835
single nucleotide variant	NM_004006.3(DMD):c.5872G>T (p.Glu1958Ter)	DMD	Pathogenic	X	32360267	32360267	C	A	criteria provided, single submitter	ClinGen:CA16608896
single nucleotide variant	NM_004006.3(DMD):c.511G>C (p.Ala171Pro)	DMD	Likely pathogenic	X	32834604	32834604	C	G	criteria provided, single submitter	ClinGen:CA16608905
single nucleotide variant	NM_004006.3(DMD):c.4222C>T (p.Gln1408Ter)	DMD	Likely pathogenic	X	32429880	32429880	G	A	criteria provided, single submitter	ClinGen:CA16609178
single nucleotide variant	NM_013382.7(POMT2):c.431T>G (p.Met144Arg)	POMT2	Likely pathogenic	14	77772687	77772687	A	C	criteria provided, single submitter	ClinGen:CA16609531