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.296T>C (p.Ile99Thr)	MPZ	Pathogenic	1	161276650	161276650	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000530.8(MPZ):c.211G>T (p.Glu71Ter)	MPZ	Pathogenic	1	161277071	161277071	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000530.8(MPZ):c.208C>T (p.Pro70Ser)	MPZ	Pathogenic	1	161277074	161277074	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter)	MPZ	Pathogenic	1	161277078	161277078	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000530.8(MPZ):c.200G>C (p.Arg67Pro)	MPZ	Likely pathogenic	1	161277082	161277082	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000530.8(MPZ):c.197G>A (p.Trp66Ter)	MPZ	Pathogenic	1	161277085	161277085	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000530.8(MPZ):c.194C>A (p.Thr65Asn)	MPZ	Pathogenic/Likely pathogenic	1	161277088	161277088	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000530.8(MPZ):c.190_192del (p.Phe64del)	MPZ	Likely pathogenic	1	161277090	161277092	TGAA	T	criteria provided, single submitter	-
Deletion	NM_000530.8(MPZ):c.130_137del (p.Ser44fs)	MPZ	Pathogenic/Likely pathogenic	1	161277145	161277152	CACCCGGGA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000530.8(MPZ):c.101C>T (p.Thr34Ile)	MPZ	Likely pathogenic	1	161277181	161277181	G	A	criteria provided, single submitter	-