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.394C>T (p.Pro132Ser)	MPZ	Likely pathogenic	1	161276552	161276552	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000530.8(MPZ):c.159G>A (p.Trp53Ter)	MPZ	Pathogenic	1	161277123	161277123	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_003680.4(YARS1):c.499C>A (p.Pro167Thr)	YARS1	Pathogenic/Likely pathogenic	1	33272094	33272094	G	T	criteria provided, multiple submitters, no conflicts	OMIM:603623.0008
Deletion	NM_020631.6(PLEKHG5):c.453_543del (p.Gly152fs)	PLEKHG5	Pathogenic	1	6534121	6534211	GGGCGGGGGGCCCGGTCCCAGCTGGCCGCAGAATCGGCAAACTCAGGGACTTGGAGTCCTTCATGCCCTGCTCCACCTTGCCCTCATCTCCA	G	criteria provided, single submitter	-
Deletion	NM_024577.4(SH3TC2):c.1366del (p.Asp455_Leu456insTer)	SH3TC2	Pathogenic	5	148407929	148407929	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_014845.6(FIG4):c.1928T>A (p.Leu643Ter)	FIG4	Pathogenic	6	110106211	110106211	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002047.4(GARS1):c.979G>A (p.Gly327Arg)	GARS1	Pathogenic	7	30651809	30651809	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_018972.4(GDAP1):c.359G>T (p.Arg120Leu)	GDAP1	Likely pathogenic	8	75272420	75272420	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_018972.4(GDAP1):c.393G>C (p.Leu131Phe)	GDAP1	Likely pathogenic	8	75272454	75272454	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_018972.4(GDAP1):c.839A>C (p.Tyr280Ser)	GDAP1	Pathogenic	8	75276364	75276364	A	C	criteria provided, single submitter	-