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
single nucleotide variant	NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter)	FIG4	Pathogenic	6	110081456	110081456	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA277617
single nucleotide variant	NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu)	HSPB1	Pathogenic	7	75933161	75933161	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279079
single nucleotide variant	NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter)	HSPB1	Pathogenic/Likely pathogenic	7	75933395	75933395	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279092
single nucleotide variant	NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter)	GDAP1	Pathogenic	8	75272434	75272434	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA277623
Deletion	NM_000304.4(PMP22):c.434del (p.Leu145fs)	PMP22	Pathogenic/Likely pathogenic	17	15134283	15134283	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA279068
single nucleotide variant	NM_000304.4(PMP22):c.327C>A (p.Cys109Ter)	PMP22	Pathogenic	17	15134390	15134390	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279101
single nucleotide variant	NM_000304.4(PMP22):c.235T>A (p.Ser79Thr)	PMP22	Likely pathogenic	17	15142872	15142872	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279110
Deletion	NM_181882.3(PRX):c.2787del (p.Lys930fs)	PRX	Pathogenic/Likely pathogenic	19	40901472	40901472	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA277608,OMIM:605725.0002
single nucleotide variant	NM_000166.6(GJB1):c.-103C>T	GJB1	Pathogenic/Likely pathogenic	X	70443099	70443099	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279082
single nucleotide variant	NM_000166.6(GJB1):c.44G>A (p.Arg15Gln)	GJB1	Pathogenic	X	70443601	70443601	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA279084,UniProtKB:P08034#VAR_002015