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_002180.3(IGHMBP2):c.2560C>T (p.Gln854Ter)	IGHMBP2	Pathogenic	11	68704508	68704508	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6153941
single nucleotide variant	NM_000304.4(PMP22):c.117G>A (p.Trp39Ter)	PMP22	Pathogenic	17	15162472	15162472	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604162
single nucleotide variant	NM_030962.4(SBF2):c.5451+2T>G	SBF2	Likely pathogenic	11	9803052	9803052	A	C	criteria provided, single submitter	ClinGen:CA10604738
single nucleotide variant	NM_170707.4(LMNA):c.83G>A (p.Arg28Gln)	LMNA	Pathogenic/Likely pathogenic	1	156084792	156084792	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605120
Indel	NM_170707.4(LMNA):c.65_66delinsT (p.Ser22fs)	LMNA	Pathogenic	1	156084774	156084775	CG	T	criteria provided, single submitter	ClinGen:CA10605892
single nucleotide variant	NM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser)	IGHMBP2	Likely pathogenic	11	68685351	68685351	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605930
Deletion	NM_002180.3(IGHMBP2):c.2598_2599del (p.Lys868fs)	IGHMBP2	Pathogenic	11	68704545	68704546	AAG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605931
Duplication	NM_000263.4(NAGLU):c.648dup (p.Ser217fs)	NAGLU	Pathogenic	17	40690467	40690468	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA8576804
single nucleotide variant	NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter)	NAGLU	Pathogenic	17	40690703	40690703	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605951
single nucleotide variant	NM_002437.5(MPV17):c.409-1G>C	MPV17	Pathogenic	2	27534820	27534820	C	G	criteria provided, single submitter	ClinGen:CA10606566