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_000166.6(GJB1):c.515C>T (p.Pro172Leu)	GJB1	Pathogenic	X	70444072	70444072	C	T	criteria provided, single submitter	ClinGen:CA413502914
single nucleotide variant	NM_000166.6(GJB1):c.53C>G (p.Thr18Ser)	GJB1	Likely pathogenic	X	70443610	70443610	C	G	criteria provided, single submitter	ClinGen:CA413500639
Deletion	NC_000023.11:g.(?_71223168)_(71224579_?)del	GJB1	Pathogenic	X	70443018	70444429	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.77C>G (p.Ser26Trp)	GJB1	Pathogenic	X	70443634	70443634	C	G	criteria provided, single submitter	ClinGen:CA413500799
single nucleotide variant	NM_001376.5(DYNC1H1):c.10280A>C (p.Gln3427Pro)	DYNC1H1	Likely pathogenic	14	102499688	102499688	A	C	criteria provided, single submitter	ClinGen:CA391023668
single nucleotide variant	NM_021629.4(GNB4):c.229G>A (p.Gly77Arg)	GNB4	Pathogenic/Likely pathogenic	3	179134319	179134319	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA355470461
single nucleotide variant	NM_170707.4(LMNA):c.1385A>C (p.Gln462Pro)	LMNA	Likely pathogenic	1	156106716	156106716	A	C	criteria provided, single submitter	ClinGen:CA342822406
Duplication	NM_014874.4(MFN2):c.1839dup (p.Thr614fs)	MFN2	Likely pathogenic	1	12066715	12066716	A	AG	criteria provided, single submitter	ClinGen:CA658683132
Deletion	NM_000530.8(MPZ):c.558del (p.Arg186fs)	MPZ	Pathogenic	1	161276145	161276145	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683167
single nucleotide variant	NM_003172.4(SURF1):c.752-1G>C	SURF1	Pathogenic	9	136218998	136218998	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA375693588