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.434T>A (p.Leu145His)	SYNE1	Likely pathogenic	6	152831475	152831475	A	T	criteria provided, single submitter	ClinGen:CA4059726
Duplication	NM_000117.3(EMD):c.184dup (p.Ser62fs)	EMD	Pathogenic	X	153608150	153608151	C	CT	criteria provided, single submitter	ClinGen:CA658799912
Duplication	NM_004006.3(DMD):c.7319dup (p.Thr2441fs)	DMD	Likely pathogenic	X	31792299	31792300	C	CT	criteria provided, single submitter	ClinGen:CA658799657
single nucleotide variant	NM_004006.3(DMD):c.4838G>A (p.Trp1613Ter)	DMD	Pathogenic	X	32398634	32398634	C	T	criteria provided, single submitter	ClinGen:CA412660945
single nucleotide variant	NM_004006.3(DMD):c.357+1G>A	DMD	Likely pathogenic	X	32841411	32841411	C	T	criteria provided, single submitter	ClinGen:CA412674406
single nucleotide variant	NM_004006.3(DMD):c.93+1G>C	DMD	Pathogenic	X	33038255	33038255	C	G	criteria provided, single submitter	ClinGen:CA412675209
Deletion	NM_000426.4(LAMA2):c.12del (p.Ala5fs)	LAMA2	Pathogenic/Likely pathogenic	6	129204401	129204401	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796818
Deletion	NM_001347702.2(SYNE1):c.1455del (p.Glu486fs)	SYNE1	Likely pathogenic	6	152466677	152466677	CG	C	criteria provided, single submitter	ClinGen:CA658796842
single nucleotide variant	NM_182961.4(SYNE1):c.17229T>G (p.Tyr5743Ter)	SYNE1	Pathogenic	6	152629741	152629741	A	C	criteria provided, single submitter	ClinGen:CA366105771
single nucleotide variant	NM_001077365.2(POMT1):c.1210C>T (p.Gln404Ter)	POMT1	Likely pathogenic	9	134390847	134390847	C	T	criteria provided, single submitter	ClinGen:CA375309889