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_020631.6(PLEKHG5):c.985-2A>G	PLEKHG5	Pathogenic/Likely pathogenic	1	6532684	6532684	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA338133178
Deletion	NM_003172.4(SURF1):c.631_632del (p.Glu211fs)	SURF1	Pathogenic/Likely pathogenic	9	136219420	136219421	TTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683555
single nucleotide variant	NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter)	NAGLU	Pathogenic/Likely pathogenic	17	40695621	40695621	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399604256
single nucleotide variant	NM_001376.5(DYNC1H1):c.4042G>A (p.Glu1348Lys)	DYNC1H1	Likely pathogenic	14	102466704	102466704	G	A	criteria provided, single submitter	ClinGen:CA391039352
Deletion	NM_170707.4(LMNA):c.1142_1157+1del	LMNA	Pathogenic/Likely pathogenic	1	156105895	156105911	TGGAGGGCGAGGAGGAGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795534
single nucleotide variant	NM_025137.4(SPG11):c.4371G>A (p.Trp1457Ter)	SPG11	Pathogenic	15	44888344	44888344	C	T	criteria provided, single submitter	ClinGen:CA392227544
single nucleotide variant	NM_000530.8(MPZ):c.270C>G (p.Asp90Glu)	MPZ	Likely pathogenic	1	161276676	161276676	G	C	criteria provided, single submitter	ClinGen:CA343349785
single nucleotide variant	NM_170707.4(LMNA):c.1582A>C (p.Thr528Pro)	LMNA	Pathogenic	1	156106997	156106997	A	C	criteria provided, single submitter	ClinGen:CA342823494
Duplication	NM_170707.4(LMNA):c.978dup (p.Leu327fs)	LMNA	Pathogenic	1	156105732	156105733	C	CA	criteria provided, single submitter	ClinGen:CA658795532
Duplication	NM_170707.4(LMNA):c.1524_1534dup (p.Leu512fs)	LMNA	Pathogenic	1	156106936	156106937	C	CCCCCCTACCGA	criteria provided, single submitter	ClinGen:CA658795538