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_003172.4(SURF1):c.313_321del (p.Leu105_Ala107del)	SURF1	Likely pathogenic	9	136221516	136221524	CGGCTGGCAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA200833336
Insertion	NM_003172.4(SURF1):c.311_312insA (p.Leu105fs)	SURF1	Pathogenic/Likely pathogenic	9	136221525	136221526	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA200833343
copy number loss	GRCh37/hg19 6q21(chr6:110113784-110113868)x1	FIG4	Likely pathogenic	6	110113784	110113868	na	na	criteria provided, single submitter	-
copy number loss	GRCh37/hg19 6q21(chr6:110113784-110113868)x0	FIG4	Likely pathogenic	6	110113784	110113868	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.50C>G (p.Ser17Cys)	GJB1	Likely pathogenic	X	70443607	70443607	C	G	criteria provided, single submitter	ClinGen:CA413499562
single nucleotide variant	NM_002764.4(PRPS1):c.586C>T (p.Arg196Trp)	PRPS1	Pathogenic/Likely pathogenic	X	106888462	106888462	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA413811807
single nucleotide variant	NM_002764.4(PRPS1):c.640C>T (p.Arg214Trp)	PRPS1	Likely pathogenic	X	106888516	106888516	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA413812308
single nucleotide variant	NM_000530.8(MPZ):c.418T>A (p.Ser140Thr)	MPZ	Pathogenic/Likely pathogenic	1	161276528	161276528	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1210178
single nucleotide variant	NM_000530.8(MPZ):c.67+1G>A	MPZ	Pathogenic	1	161279628	161279628	C	T	criteria provided, single submitter	ClinGen:CA343352876
Deletion	NM_024577.4(SH3TC2):c.957del (p.Phe320fs)	SH3TC2	Pathogenic	5	148417902	148417902	AG	A	criteria provided, single submitter	ClinGen:CA658657556