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
Deletion	NM_004006.3(DMD):c.2129del (p.Lys710fs)	DMD	Pathogenic	X	32563315	32563315	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001079802.2(FKTN):c.911-1G>A	FKTN	Pathogenic/Likely pathogenic	9	108380239	108380239	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.6580G>T (p.Glu2194Ter)	DMD	Pathogenic	X	31986490	31986490	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.3500C>G (p.Ser1167Ter)	DMD	Pathogenic	X	32472882	32472882	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.2556G>A (p.Trp852Ter)	DMD	Pathogenic	X	32509460	32509460	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.1062G>A (p.Trp354Ter)	DMD	Pathogenic	X	32663168	32663168	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.1603-2A>C	DMD	Pathogenic	X	32591965	32591965	T	G	criteria provided, single submitter	-
Deletion	NM_013382.7(POMT2):c.672del (p.Trp225fs)	POMT2	Pathogenic	14	77767577	77767577	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004369.4(COL6A3):c.6157G>T (p.Gly2053Cys)	COL6A3	Pathogenic	2	238269817	238269817	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.9727C>T (p.Gln3243Ter)	DMD	Pathogenic	X	31222158	31222158	G	A	criteria provided, single submitter	-