シャルコー・マリー・トゥース病

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_000263.4(NAGLU):c.886del (p.Leu296fs)	NAGLU	Pathogenic	17	40693088	40693088	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8576895
single nucleotide variant	NM_002764.4(PRPS1):c.307-2A>G	PRPS1	Pathogenic	X	106884130	106884130	A	G	criteria provided, single submitter	ClinGen:CA413806127
single nucleotide variant	NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter)	IGHMBP2	Likely pathogenic	11	68682483	68682483	C	T	criteria provided, single submitter	ClinGen:CA223392614
single nucleotide variant	NM_002437.5(MPV17):c.376-1G>A	MPV17	Pathogenic	2	27535115	27535115	C	T	criteria provided, single submitter	ClinGen:CA346207630
single nucleotide variant	NM_002437.5(MPV17):c.376-2A>C	MPV17	Pathogenic	2	27535116	27535116	T	G	criteria provided, single submitter	ClinGen:CA346207633
single nucleotide variant	NM_002437.5(MPV17):c.297T>A (p.Cys99Ter)	MPV17	Likely pathogenic	2	27535439	27535439	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346208235
Deletion	NM_002437.5(MPV17):c.293del (p.Pro98fs)	MPV17	Pathogenic	2	27535443	27535443	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795690
single nucleotide variant	NM_002437.5(MPV17):c.275A>G (p.Asp92Gly)	MPV17	Likely pathogenic	2	27535551	27535551	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA346208452
Indel	NM_002437.4(MPV17):c.71-2_79delins4	MPV17	Pathogenic	2	27535968	27535978	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1235+894C>A	IGHMBP2	Pathogenic	11	68697719	68697719	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797697