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_170707.4(LMNA):c.1142_1157+1del	LMNA	Pathogenic/Likely pathogenic	1	156105895	156105911	TGGAGGGCGAGGAGGAGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795534
Deletion	NM_001848.3(COL6A1):c.98-2_103del	COL6A1	Pathogenic/Likely pathogenic	21	47402546	47402553	GGCCAGACT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799464
Deletion	NM_001849.4(COL6A2):c.736-7_739del	COL6A2	Pathogenic	21	47533915	47533925	CGTTTCAGTGCT	C	criteria provided, single submitter	ClinGen:CA658799471
Indel	NM_001848.3(COL6A1):c.1003-12_1006delinsGGA	COL6A1	Pathogenic	21	47410675	47410690	TCCTCTTTCCAGGGGG	GGA	criteria provided, single submitter	ClinGen:CA658799469
Deletion	NM_004006.3(DMD):c.8263del (p.Leu2755fs)	DMD	Pathogenic	X	31525525	31525525	AG	A	criteria provided, single submitter	ClinGen:CA658799645
Duplication	NM_004006.3(DMD):c.8548-2_8549dup	DMD	Likely pathogenic	X	31497218	31497219	G	GGCCT	criteria provided, single submitter	-
Duplication	NM_182961.4(SYNE1):c.15168dup (p.Ala5057fs)	SYNE1	Likely pathogenic	6	152647555	152647556	C	CT	criteria provided, single submitter	ClinGen:CA10606679
Duplication	NM_004006.3(DMD):c.3603+2dup	DMD	Pathogenic	X	32472776	32472777	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA327996923
single nucleotide variant	NM_001848.3(COL6A1):c.859-1G>C	COL6A1	Pathogenic/Likely pathogenic	21	47409521	47409521	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA410521712
single nucleotide variant	NM_004006.3(DMD):c.4618G>T (p.Glu1540Ter)	DMD	Pathogenic	X	32404483	32404483	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412662587