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_182961.4(SYNE1):c.13325del (p.Gly4442fs)	SYNE1	Likely pathogenic	6	152652495	152652495	GC	G	criteria provided, single submitter	ClinGen:CA16618258
single nucleotide variant	NM_001077365.2(POMT1):c.1792C>T (p.Arg598Ter)	POMT1	Pathogenic	9	134396826	134396826	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA5293823
Deletion	NM_013382.7(POMT2):c.1006+1del	POMT2	Pathogenic	14	77765031	77765031	AC	A	criteria provided, single submitter	ClinGen:CA16619886
single nucleotide variant	NM_001848.3(COL6A1):c.815G>A (p.Gly272Asp)	COL6A1	Pathogenic	21	47409008	47409008	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621025
Indel	NM_001849.4(COL6A2):c.2038_2039delinsA (p.Arg680fs)	COL6A2	Likely pathogenic	21	47545767	47545768	CG	A	criteria provided, single submitter	ClinGen:CA16621031
Deletion	NM_001849.4(COL6A2):c.2515_2516del (p.Asp839fs)	COL6A2	Pathogenic	21	47551921	47551922	GGA	G	criteria provided, single submitter	ClinGen:CA16621032
Duplication	NM_001849.4(COL6A2):c.2539_2540dup (p.Gln847fs)	COL6A2	Likely pathogenic	21	47551944	47551945	G	GCA	criteria provided, single submitter	ClinGen:CA16621033
Deletion	NM_001159699.2(FHL1):c.525del (p.Lys176fs)	FHL1	Likely pathogenic	X	135290095	135290095	GC	G	criteria provided, single submitter	ClinGen:CA16621206
single nucleotide variant	NM_004006.3(DMD):c.10651C>T (p.Gln3551Ter)	DMD	Pathogenic	X	31165538	31165538	G	A	criteria provided, single submitter	ClinGen:CA16621358
Deletion	NM_004006.3(DMD):c.9370_9371del (p.Leu3124fs)	DMD	Pathogenic	X	31227807	31227808	CAA	C	criteria provided, single submitter	ClinGen:CA16621359