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
Deletion	NM_025137.4(SPG11):c.3975_3993del (p.Asn1325fs)	SPG11	Likely pathogenic	15	44890471	44890489	TTTCCTGTTGCTGAATGCTG	T	criteria provided, single submitter	ClinGen:CA658798326
Duplication	NC_000001.10:g.(?_12052592)_(12057498_?)dup	MFN2	Likely pathogenic	1	12052592	12057498	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_156114899)_(156139859_?)del	LMNA	Pathogenic	1	156084690	156109650	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_156114899)_(156126243_?)del	LMNA	Pathogenic	1	156084690	156096034	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_014874.4(MFN2):c.970+1G>T	MFN2	Likely pathogenic	1	12061612	12061612	G	T	criteria provided, single submitter	ClinGen:CA338442069
single nucleotide variant	NM_014874.4(MFN2):c.1144G>C (p.Ala382Pro)	MFN2	Likely pathogenic	1	12062144	12062144	G	C	criteria provided, single submitter	ClinGen:CA338443308
single nucleotide variant	NM_014874.4(MFN2):c.2212G>A (p.Ala738Thr)	MFN2	Likely pathogenic	1	12071560	12071560	G	A	criteria provided, single submitter	ClinGen:CA338453821
single nucleotide variant	NM_014874.4(MFN2):c.313A>G (p.Thr105Ala)	MFN2	Pathogenic	1	12056214	12056214	A	G	criteria provided, single submitter	ClinGen:CA338433793
single nucleotide variant	NM_014874.4(MFN2):c.1082A>C (p.His361Pro)	MFN2	Pathogenic	1	12062082	12062082	A	C	criteria provided, single submitter	ClinGen:CA338442851
single nucleotide variant	NM_014874.4(MFN2):c.1160+1G>A	MFN2	Likely pathogenic	1	12062161	12062161	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA338443444