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
Deletion	NM_000530.8(MPZ):c.129_136del (p.Ser44fs)	MPZ	Pathogenic	1	161277146	161277153	ACCCGGGAG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1210225
single nucleotide variant	NM_024577.4(SH3TC2):c.2488G>T (p.Glu830Ter)	SH3TC2	Pathogenic	5	148406807	148406807	C	A	criteria provided, single submitter	ClinGen:CA10584269
Duplication	NM_024577.4(SH3TC2):c.1797_1800dup (p.Cys601fs)	SH3TC2	Pathogenic	5	148407494	148407495	A	AGGCC	criteria provided, single submitter	ClinGen:CA3499119
single nucleotide variant	NM_024577.4(SH3TC2):c.731+5G>A	SH3TC2	Likely pathogenic	5	148420974	148420974	C	T	criteria provided, single submitter	ClinGen:CA10584270
Deletion	NM_024577.4(SH3TC2):c.52+4_52+5del	SH3TC2	Likely pathogenic	5	148442529	148442530	ACT	A	criteria provided, single submitter	ClinGen:CA10584271
single nucleotide variant	NM_014845.6(FIG4):c.1207C>T (p.Gln403Ter)	FIG4	Pathogenic	6	110081522	110081522	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584275
single nucleotide variant	NM_014845.6(FIG4):c.2459+1G>A	FIG4	Pathogenic/Likely pathogenic	6	110113868	110113868	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3956399
Duplication	NM_006096.4(NDRG1):c.681dup (p.Ile228fs)	NDRG1	Pathogenic/Likely pathogenic	8	134262699	134262700	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584286
single nucleotide variant	NM_006158.5(NEFL):c.1179G>C (p.Leu393Phe)	NEFL	Pathogenic/Likely pathogenic	8	24811300	24811300	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584291
single nucleotide variant	NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter)	GDAP1	Pathogenic/Likely pathogenic	8	75276294	75276294	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA4785198