シャルコー・マリー・トゥース病

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
Duplication	NM_000530.8(MPZ):c.646dup (p.Thr216fs)	MPZ	Pathogenic	1	161275766	161275767	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656970
single nucleotide variant	NM_000530.8(MPZ):c.335T>C (p.Ile112Thr)	MPZ	Likely pathogenic	1	161276611	161276611	A	G	criteria provided, single submitter	ClinGen:CA343349284
single nucleotide variant	NM_000530.8(MPZ):c.103G>A (p.Asp35Asn)	MPZ	Pathogenic	1	161277179	161277179	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA343351540
single nucleotide variant	NM_024577.4(SH3TC2):c.279+1G>A	SH3TC2	Likely pathogenic	5	148427424	148427424	C	T	criteria provided, single submitter	ClinGen:CA361678399
Deletion	NM_024577.4(SH3TC2):c.1868_1869del (p.Gly623fs)	SH3TC2	Pathogenic	5	148407426	148407427	TCC	T	criteria provided, single submitter	ClinGen:CA658657554
Deletion	NC_000006.12:g.(?_109691416)_(109691521_?)del	FIG4	Pathogenic	6	110012619	110012724	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_002047.4(GARS1):c.875T>G (p.Met292Arg)	GARS1	Pathogenic	7	30649340	30649340	T	G	criteria provided, single submitter	ClinGen:CA367124717
single nucleotide variant	NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe)	GARS1	Pathogenic	7	30651830	30651830	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA367125514
single nucleotide variant	NM_001540.5(HSPB1):c.532G>T (p.Glu178Ter)	HSPB1	Likely pathogenic	7	75933404	75933404	G	T	criteria provided, single submitter	ClinGen:CA367766252
single nucleotide variant	NM_002047.4(GARS1):c.794C>T (p.Ser265Phe)	GARS1	Pathogenic/Likely pathogenic	7	30649259	30649259	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA367124351