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
Insertion	NM_004006.3(DMD):c.1659_1660insGTAA (p.Leu554fs)	DMD	Pathogenic	X	32591906	32591907	A	ATTAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799678
Deletion	NM_004006.3(DMD):c.6423del (p.Lys2140_Tyr2141insTer)	DMD	Pathogenic	X	32235048	32235048	TG	T	criteria provided, single submitter	ClinGen:CA658799664
Deletion	NM_004369.4(COL6A3):c.6310-28_6325del	COL6A3	Pathogenic/Likely pathogenic	2	238267878	238267921	ATTTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796208
single nucleotide variant	NM_004006.3(DMD):c.6544C>T (p.Gln2182Ter)	DMD	Pathogenic	X	31986526	31986526	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412659615
single nucleotide variant	NM_001849.4(COL6A2):c.883G>A (p.Gly295Arg)	COL6A2	Pathogenic/Likely pathogenic	21	47535950	47535950	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA410525272
single nucleotide variant	NM_000117.3(EMD):c.484C>T (p.Gln162Ter)	EMD	Pathogenic	X	153609276	153609276	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA415258537
Duplication	NM_017739.4(POMGNT1):c.477dup (p.Met160fs)	POMGNT1	Pathogenic	1	46661539	46661540	T	TG	criteria provided, single submitter	ClinGen:CA658795460
single nucleotide variant	NM_001848.3(COL6A1):c.1002+2T>G	COL6A1	Pathogenic	21	47410338	47410338	T	G	criteria provided, single submitter	ClinGen:CA410522770
single nucleotide variant	NM_004006.3(DMD):c.5800G>T (p.Glu1934Ter)	DMD	Pathogenic	X	32360339	32360339	C	A	criteria provided, single submitter	ClinGen:CA412665134
single nucleotide variant	NM_004006.3(DMD):c.4591C>T (p.Gln1531Ter)	DMD	Pathogenic	X	32404510	32404510	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412662653