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.1580_1586del (p.Arg527fs)	LMNA	Pathogenic	1	156106993	156106999	TGCGTACG	T	criteria provided, single submitter	-
Duplication	NM_170707.4(LMNA):c.1657dup (p.Asp553fs)	LMNA	Pathogenic	1	156107492	156107493	C	CG	criteria provided, single submitter	-
Deletion	NM_020451.3(SELENON):c.300del (p.Ser102fs)	SELENON	Pathogenic	1	26127650	26127650	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_020451.3(SELENON):c.802C>T (p.Arg268Cys)	SELENON	Pathogenic/Likely pathogenic	1	26135571	26135571	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_020451.3(SELENON):c.1180G>T (p.Glu394Ter)	SELENON	Pathogenic	1	26138269	26138269	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter)	POMGNT1	Pathogenic/Likely pathogenic	1	46657847	46657847	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_017739.4(POMGNT1):c.1001_1002del (p.Thr334fs)	POMGNT1	Pathogenic	1	46659260	46659261	CTG	C	criteria provided, single submitter	-
single nucleotide variant	NM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter)	POMGNT1	Pathogenic/Likely pathogenic	1	46661506	46661506	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_017739.4(POMGNT1):c.10del (p.Trp4fs)	POMGNT1	Pathogenic	1	46663484	46663484	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_004369.4(COL6A3):c.6309G>A (p.Lys2103=)	COL6A3	Pathogenic	2	238268005	238268005	C	T	criteria provided, single submitter	-