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_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter)	SYNE1	Pathogenic	6	152557375	152557375	G	A	criteria provided, multiple submitters, no conflicts	ClinVar:424802,ClinVar:691949,ClinGen:CA351316
single nucleotide variant	NM_182961.4(SYNE1):c.9625A>T (p.Lys3209Ter)	SYNE1	Pathogenic/Likely pathogenic	6	152690632	152690632	T	A	criteria provided, multiple submitters, no conflicts	ClinVar:424801,ClinGen:CA351284
Indel	NM_182961.4(SYNE1):c.3396-10_3396delinsC	SYNE1	Likely pathogenic	6	152770776	152770786	TCTGAAATAAC	G	criteria provided, single submitter	ClinGen:CA278937
single nucleotide variant	NM_004006.3(DMD):c.4000G>T (p.Gly1334Ter)	DMD	Pathogenic/Likely pathogenic	X	32456429	32456429	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347462
single nucleotide variant	NM_004006.3(DMD):c.10504G>T (p.Glu3502Ter)	DMD	Pathogenic	X	31187609	31187609	C	A	criteria provided, single submitter	ClinGen:CA347545
single nucleotide variant	NM_004006.3(DMD):c.10412T>G (p.Leu3471Ter)	DMD	Pathogenic	X	31187701	31187701	A	C	criteria provided, single submitter	ClinGen:CA347580
single nucleotide variant	NM_004006.3(DMD):c.10223+1G>C	DMD	Pathogenic	X	31196785	31196785	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA347551
Deletion	NM_004006.3(DMD):c.10133del (p.Asn3378fs)	DMD	Pathogenic	X	31196876	31196876	GT	G	criteria provided, single submitter	ClinGen:CA347537
Duplication	NM_004006.3(DMD):c.9938_9941dup (p.Asn3314delinsLysTer)	DMD	Pathogenic	X	31200887	31200888	G	GTTAC	criteria provided, single submitter	ClinGen:CA347586
Duplication	NM_004006.3(DMD):c.9551dup (p.Asn3184fs)	DMD	Pathogenic	X	31227626	31227627	A	AT	criteria provided, single submitter	ClinGen:CA347501