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_000530.8(MPZ):c.89T>G (p.Ile30Ser)	MPZ	Likely pathogenic	1	161277193	161277193	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_004637.6(RAB7A):c.482A>T (p.Asn161Ile)	RAB7A	Pathogenic	3	128526468	128526468	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_024577.4(SH3TC2):c.3321C>A (p.Tyr1107Ter)	SH3TC2	Pathogenic	5	148389839	148389839	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_024577.4(SH3TC2):c.3013G>T (p.Glu1005Ter)	SH3TC2	Pathogenic	5	148406175	148406175	C	A	criteria provided, single submitter	-
Deletion	NM_024577.4(SH3TC2):c.2989del (p.Arg997fs)	SH3TC2	Pathogenic	5	148406199	148406199	CG	C	criteria provided, single submitter	-
Indel	NM_024577.4(SH3TC2):c.1894_1897delinsAAA (p.Glu632fs)	SH3TC2	Pathogenic	5	148407398	148407401	CCTC	TTT	criteria provided, single submitter	-
single nucleotide variant	NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter)	SH3TC2	Pathogenic/Likely pathogenic	5	148407917	148407917	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_014845.6(FIG4):c.1986dup (p.Lys663fs)	FIG4	Pathogenic	6	110107541	110107542	A	AG	criteria provided, single submitter	-
Duplication	NM_014845.6(FIG4):c.2299dup (p.Glu767fs)	FIG4	Pathogenic	6	110112694	110112695	C	CG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002047.4(GARS1):c.598G>A (p.Asp200Asn)	GARS1	Pathogenic	7	30642678	30642678	G	A	criteria provided, single submitter	-