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.823G>C (p.Gly275Arg)	COL6A1	Likely pathogenic	21	47409016	47409016	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_001077365.2(POMT1):c.1015C>T (p.Gln339Ter)	POMT1	Pathogenic	9	134387456	134387456	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001159699.2(FHL1):c.841_844dup (p.Phe282fs)	FHL1	Pathogenic/Likely pathogenic	X	135292130	135292131	C	CTTTG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.3374C>A (p.Ser1125Ter)	DMD	Pathogenic	X	32481614	32481614	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004369.4(COL6A3):c.6320_6322del (p.Gly2107del)	COL6A3	Likely pathogenic	2	238267881	238267883	TCTC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.8075+1G>A	LAMA2	Likely pathogenic	6	129813223	129813223	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001848.3(COL6A1):c.739-2A>G	COL6A1	Pathogenic	21	47407411	47407411	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001848.3(COL6A1):c.1483C>T (p.Pro495Ser)	COL6A1	Likely pathogenic	21	47417635	47417635	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001849.4(COL6A2):c.1806C>A (p.Cys602Ter)	COL6A2	Likely pathogenic	21	47545215	47545215	C	A	criteria provided, single submitter	-
Deletion	NM_000117.3(EMD):c.16del (p.Asp6fs)	EMD	Likely pathogenic	X	153607860	153607860	AG	A	criteria provided, single submitter	-