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_170707.4(LMNA):c.1560G>A (p.Trp520Ter)	LMNA	Pathogenic	1	156106975	156106975	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017446
single nucleotide variant	NM_170707.4(LMNA):c.1562G>T (p.Gly521Val)	LMNA	Likely pathogenic	1	156106977	156106977	G	T	criteria provided, single submitter	ClinGen:CA017452
single nucleotide variant	NM_000117.3(EMD):c.187+1G>T	EMD	Pathogenic	X	153608155	153608155	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA335148
single nucleotide variant	NM_004006.3(DMD):c.2623-1G>T	DMD	Pathogenic/Likely pathogenic	X	32503217	32503217	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA308422
Deletion	NM_004369.4(COL6A3):c.6859del (p.Arg2287fs)	COL6A3	Likely pathogenic	2	238258810	238258810	CG	C	criteria provided, single submitter	ClinVar:424821,ClinGen:CA052246
Deletion	NM_182961.4(SYNE1):c.13299del (p.His4433fs)	SYNE1	Pathogenic	6	152652521	152652521	CG	C	criteria provided, single submitter	-
Insertion	NM_182961.4(SYNE1):c.3930_3931insGG (p.His1311fs)	SYNE1	Likely pathogenic	6	152763287	152763288	G	GCC	criteria provided, single submitter	ClinGen:CA276021
Duplication	NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer)	SELENON	Likely pathogenic	1	26135595	26135596	G	GCCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA276995
single nucleotide variant	NM_004369.4(COL6A3):c.6181C>T (p.Arg2061Ter)	COL6A3	Pathogenic	2	238269793	238269793	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA205930
single nucleotide variant	NM_182961.4(SYNE1):c.25009C>T (p.Gln8337Ter)	SYNE1	Pathogenic	6	152464868	152464868	G	A	criteria provided, single submitter	ClinGen:CA277296