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_001848.3(COL6A1):c.903+1G>T	COL6A1	Pathogenic	21	47409567	47409567	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.6025C>T (p.Gln2009Ter)	DMD	Pathogenic	X	32328291	32328291	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004369.4(COL6A3):c.5838+1G>T	COL6A3	Pathogenic/Likely pathogenic	2	238274340	238274340	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004006.3(DMD):c.5680del (p.Asp1894fs)	DMD	Pathogenic	X	32361310	32361310	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001079802.2(FKTN):c.369+1G>C	FKTN	Pathogenic/Likely pathogenic	9	108363630	108363630	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001848.3(COL6A1):c.1693C>T (p.Arg565Ter)	COL6A1	Pathogenic/Likely pathogenic	21	47419085	47419085	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.10087-2A>G	DMD	Pathogenic/Likely pathogenic	X	31196924	31196924	T	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004006.3(DMD):c.1769_1772dup (p.Lys591delinsAsnTer)	DMD	Pathogenic	X	32591686	32591687	T	TTTAA	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.1978_1979del (p.Lys660fs)	DMD	Pathogenic	X	32583832	32583833	CTT	C	criteria provided, single submitter	-
Duplication	NM_004006.3(DMD):c.3257dup (p.Gln1087fs)	DMD	Pathogenic	X	32482721	32482722	C	CT	criteria provided, multiple submitters, no conflicts	-