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_004006.3(DMD):c.265-2A>G	DMD	Pathogenic	X	32841506	32841506	T	C	criteria provided, single submitter	ClinGen:CA347571
single nucleotide variant	NM_004006.3(DMD):c.94-1G>A	DMD	Pathogenic	X	32867938	32867938	C	T	criteria provided, single submitter	ClinGen:CA347590
Deletion	NM_170707.4(LMNA):c.91_93del (p.Glu31del)	LMNA	Pathogenic	1	156084798	156084800	CAGG	C	criteria provided, single submitter	ClinGen:CA277863
single nucleotide variant	NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter)	LMNA	Pathogenic/Likely pathogenic	1	156106075	156106075	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602394
Indel	NM_170707.4(LMNA):c.354_355delinsAG (p.Arg119Gly)	LMNA	Likely pathogenic	1	156085063	156085064	GC	AG	criteria provided, single submitter	ClinGen:CA351885
single nucleotide variant	NM_004369.4(COL6A3):c.7264C>T (p.Arg2422Ter)	COL6A3	Pathogenic/Likely pathogenic	2	238253397	238253397	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575974
single nucleotide variant	NM_001849.4(COL6A2):c.954G>T (p.Lys318Asn)	COL6A2	Likely pathogenic	21	47536591	47536591	G	T	criteria provided, single submitter	ClinGen:CA10575985
single nucleotide variant	NM_170707.4(LMNA):c.82C>G (p.Arg28Gly)	LMNA	Likely pathogenic	1	156084791	156084791	C	G	criteria provided, single submitter	ClinGen:CA358140
single nucleotide variant	NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)	FKTN	Pathogenic	9	108366733	108366733	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA5170446
single nucleotide variant	NM_170707.4(LMNA):c.356+1G>C	LMNA	Pathogenic/Likely pathogenic	1	156085066	156085066	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576364