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_001376.5(DYNC1H1):c.1741A>T (p.Met581Leu)	DYNC1H1	Likely pathogenic	14	102452303	102452303	A	T	criteria provided, single submitter	-
Deletion	NM_000530.8(MPZ):c.486del (p.Ile162fs)	MPZ	Pathogenic/Likely pathogenic	1	161276217	161276217	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)	MPV17	Pathogenic/Likely pathogenic	2	27535925	27535925	C	T	criteria provided, multiple submitters, no conflicts	OMIM:137960.0009
single nucleotide variant	NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg)	HSPB1	Pathogenic/Likely pathogenic	7	75932279	75932279	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002972.4(SBF1):c.2154_2155del (p.Asp719fs)	SBF1	Pathogenic/Likely pathogenic	22	50900875	50900876	TCC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_170707.4(LMNA):c.639+1G>A	LMNA	Likely pathogenic	1	156104320	156104320	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003172.4(SURF1):c.516-2A>G	SURF1	Pathogenic	9	136219623	136219623	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_170707.4(LMNA):c.727G>T (p.Asp243Tyr)	LMNA	Likely pathogenic	1	156104683	156104683	G	T	criteria provided, single submitter	-
Deletion	NM_181882.3(PRX):c.979del (p.Asp327fs)	PRX	Pathogenic	19	40903280	40903280	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_003172.4(SURF1):c.504C>A (p.Cys168Ter)	SURF1	Likely pathogenic	9	136220615	136220615	G	T	criteria provided, single submitter	-