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
Duplication	NC_000023.10:g.(?_33032666)_(33038337_?)dup	DMD	Pathogenic	X	33032666	33038337	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000117.3(EMD):c.12C>G (p.Tyr4Ter)	EMD	Pathogenic	X	153607856	153607856	C	G	criteria provided, single submitter	ClinGen:CA415256838
Deletion	NM_004006.3(DMD):c.10238del (p.Ile3413fs)	DMD	Pathogenic	X	31196073	31196073	GA	G	criteria provided, single submitter	ClinGen:CA658658946
single nucleotide variant	NM_004006.3(DMD):c.10109G>C (p.Arg3370Pro)	DMD	Likely pathogenic	X	31196900	31196900	C	G	criteria provided, single submitter	ClinGen:CA412652922
Deletion	NM_004006.3(DMD):c.1476del (p.Gln492fs)	DMD	Pathogenic	X	32632426	32632426	GT	G	criteria provided, single submitter	ClinGen:CA658658967
single nucleotide variant	NM_170707.4(LMNA):c.1385A>C (p.Gln462Pro)	LMNA	Likely pathogenic	1	156106716	156106716	A	C	criteria provided, single submitter	ClinGen:CA342822406
single nucleotide variant	NM_001077365.2(POMT1):c.1921C>T (p.Leu641Phe)	POMT1	Pathogenic	9	134397529	134397529	C	T	criteria provided, single submitter	ClinGen:CA5293879
single nucleotide variant	NM_170707.4(LMNA):c.3G>A (p.Met1Ile)	LMNA	Pathogenic	1	156084712	156084712	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA342805841
single nucleotide variant	NM_004369.4(COL6A3):c.6156+1G>A	COL6A3	Pathogenic	2	238270381	238270381	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351217634
single nucleotide variant	NM_004369.4(COL6A3):c.4390C>T (p.Arg1464Ter)	COL6A3	Likely pathogenic	2	238277716	238277716	G	A	criteria provided, single submitter	ClinGen:CA67816816