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.10519G>T (p.Glu3507Ter)	DMD	Pathogenic	X	31187594	31187594	C	A	criteria provided, single submitter	ClinGen:CA412651795
single nucleotide variant	NM_004369.4(COL6A3):c.6238G>A (p.Gly2080Ser)	COL6A3	Likely pathogenic	2	238268775	238268775	C	T	criteria provided, single submitter	ClinGen:CA351216635
single nucleotide variant	NM_182961.4(SYNE1):c.23979-2A>G	SYNE1	Pathogenic	6	152476179	152476179	T	C	criteria provided, single submitter	ClinGen:CA366087986
Duplication	NM_170707.4(LMNA):c.978dup (p.Leu327fs)	LMNA	Pathogenic	1	156105732	156105733	C	CA	criteria provided, single submitter	ClinGen:CA658795532
Duplication	NM_170707.4(LMNA):c.1524_1534dup (p.Leu512fs)	LMNA	Pathogenic	1	156106936	156106937	C	CCCCCCTACCGA	criteria provided, single submitter	ClinGen:CA658795538
Indel	NM_004369.4(COL6A3):c.8467=	COL6A3	Likely pathogenic	2	238247758	238247773	CACCTAAAGAAAAAAA	CACCTAAAGAAAAAAA	criteria provided, single submitter	-
Deletion	NM_000426.4(LAMA2):c.1781_1782del (p.Lys594fs)	LAMA2	Pathogenic	6	129513996	129513997	CAA	C	criteria provided, single submitter	ClinGen:CA658796814
Deletion	NM_000426.4(LAMA2):c.4682del (p.Lys1561fs)	LAMA2	Pathogenic/Likely pathogenic	6	129674466	129674466	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA570205669
Duplication	NM_000426.4(LAMA2):c.8669dup (p.Leu2890fs)	LAMA2	Pathogenic	6	129826464	129826465	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796830
Duplication	NM_001849.4(COL6A2):c.1117-35_1118dup	COL6A2	Likely pathogenic	21	47538492	47538493	C	CAAAAGACGTGAGGCTGATTCTGCAAACCCTTCCAGGG	criteria provided, single submitter	ClinGen:CA658799477