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
Indel	NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer)	SURF1	Pathogenic	9	136221516	136221525	GGCTGGCAGA	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA321457,OMIM:185620.0003
Deletion	NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del)	SURF1	Pathogenic	9	136223317	136223340	GCCACCGCCGCCATCGCACCCGGCC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA323641
single nucleotide variant	NM_004208.4(AIFM1):c.1184T>G (p.Val395Gly)	AIFM1	Likely pathogenic	X	129270141	129270141	A	C	criteria provided, single submitter	ClinGen:CA322395
Deletion	NM_014874.3(MFN2):c.600-?_816+?del	MFN2	Pathogenic	1	12058827	12059152	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000530.8(MPZ):c.419C>G (p.Ser140Cys)	MPZ	Likely pathogenic	1	161276527	161276527	G	C	criteria provided, single submitter	ClinGen:CA337957
Deletion	NM_024577.4(SH3TC2):c.1662del (p.Ile555fs)	SH3TC2	Pathogenic	5	148407633	148407633	TG	T	criteria provided, single submitter	ClinGen:CA338185
Indel	NM_024577.4(SH3TC2):c.1586_1587delinsAG (p.Arg529Gln)	SH3TC2	Pathogenic/Likely pathogenic	5	148407708	148407709	AC	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA336470
Indel	NM_024577.4(SH3TC2):c.1585_1587delinsTGG (p.Arg529Trp)	SH3TC2	Likely pathogenic	5	148407708	148407710	ACG	CCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA336099
single nucleotide variant	NM_024577.4(SH3TC2):c.279G>A (p.Lys93=)	SH3TC2	Pathogenic	5	148427425	148427425	C	T	criteria provided, single submitter	ClinGen:CA339459
Deletion	NM_016156.6(MTMR2):c.1034del (p.Asn345fs)	MTMR2	Pathogenic	11	95581023	95581023	AT	A	criteria provided, single submitter	ClinGen:CA337376