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_000166.6(GJB1):c.462T>G (p.Tyr154Ter)	GJB1	Pathogenic	X	70444019	70444019	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584642
single nucleotide variant	NM_000166.6(GJB1):c.541G>A (p.Val181Met)	GJB1	Pathogenic	X	70444098	70444098	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584643,UniProtKB:P08034#VAR_002107
single nucleotide variant	NM_000166.6(GJB1):c.643C>T (p.Arg215Trp)	GJB1	Pathogenic/Likely pathogenic	X	70444200	70444200	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584644,UniProtKB:P08034#VAR_002129
single nucleotide variant	NM_025137.4(SPG11):c.2316+5G>A	SPG11	Likely pathogenic	15	44914921	44914921	C	T	criteria provided, single submitter	ClinVar:427826,ClinGen:CA270074844
copy number loss	GRCh37/hg19 19q13.33(chr19:50364553-50365166)x1	PNKP	Likely pathogenic	19	50364553	50365166	na	na	criteria provided, single submitter	-
copy number gain	GRCh37/hg19 17p12(chr17:15133960-15169915)x3	PMP22	Pathogenic	17	15133960	15169915	na	na	criteria provided, single submitter	-
copy number loss	GRCh37/hg19 17p12(chr17:15133960-15169915)x1	PMP22	Pathogenic	17	15133960	15169915	na	na	criteria provided, single submitter	-
copy number gain	GRCh37/hg19 17p12(chr17:14413312-15169915)x3	PMP22	Pathogenic	17	14413312	15169915	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly)	MORC2	Pathogenic	22	31337537	31337537	T	C	criteria provided, single submitter	ClinGen:CA10586383,UniProtKB:Q9Y6X9#VAR_076456,OMIM:616661.0003
Deletion	NM_014845.6(FIG4):c.759del (p.Phe254fs)	FIG4	Pathogenic	6	110059638	110059638	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3955889,OMIM:609390.0005