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
single nucleotide variant	NM_170707.4(LMNA):c.1566C>A (p.Cys522Ter)	LMNA	Pathogenic	1	156106981	156106981	C	A	criteria provided, single submitter	ClinGen:CA10587415
single nucleotide variant	NM_170707.4(LMNA):c.1157G>C (p.Arg386Thr)	LMNA	Pathogenic	1	156105912	156105912	G	C	criteria provided, single submitter	ClinGen:CA10587419
single nucleotide variant	NM_001005361.3(DNM2):c.1879C>G (p.Pro627Ala)	DNM2	Pathogenic	19	10934561	10934561	C	G	criteria provided, single submitter	ClinGen:CA10588681
Deletion	NM_170707.4(LMNA):c.784del (p.Glu262fs)	LMNA	Pathogenic	1	156104739	156104739	AG	A	criteria provided, single submitter	ClinGen:CA10602762
Deletion	NM_018972.4(GDAP1):c.501del (p.Glu168fs)	GDAP1	Pathogenic	8	75274135	75274135	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603000
single nucleotide variant	NM_007126.5(VCP):c.475C>T (p.Arg159Cys)	VCP	Pathogenic/Likely pathogenic	9	35065349	35065349	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA5039453
single nucleotide variant	NM_003172.4(SURF1):c.688C>T (p.Arg230Ter)	SURF1	Pathogenic	9	136219364	136219364	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603164
single nucleotide variant	NM_001370298.3(FGD4):c.1740C>A (p.Tyr580Ter)	FGD4	Pathogenic	12	32764208	32764208	C	A	criteria provided, single submitter	ClinGen:CA10603250
single nucleotide variant	NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro)	NAGLU	Pathogenic/Likely pathogenic	17	40690710	40690710	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603774
Indel	NM_002180.3(IGHMBP2):c.2197_2203delinsCA (p.Ile733fs)	IGHMBP2	Pathogenic	11	68704145	68704151	ATAGTGG	CA	criteria provided, single submitter	ClinGen:CA10604071