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
Duplication	NM_001005373.4(LRSAM1):c.2019dup (p.Glu674fs)	LRSAM1	Pathogenic/Likely pathogenic	9	130263394	130263395	C	CA	criteria provided, multiple submitters, no conflicts	-
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
single nucleotide variant	NM_170707.4(LMNA):c.143G>C (p.Arg48Pro)	LMNA	Pathogenic/Likely pathogenic	1	156084852	156084852	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_018972.4(GDAP1):c.311-1G>A	GDAP1	Pathogenic/Likely pathogenic	8	75272371	75272371	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_014845.6(FIG4):c.877-2A>C	FIG4	Pathogenic/Likely pathogenic	6	110064311	110064311	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_181882.3(PRX):c.1864C>T (p.Gln622Ter)	PRX	Pathogenic/Likely pathogenic	19	40902395	40902395	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000304.4(PMP22):c.215C>G (p.Ser72Trp)	PMP22	Pathogenic/Likely pathogenic	17	15142892	15142892	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000304.4(PMP22):c.320G>T (p.Gly107Val)	PMP22	Pathogenic/Likely pathogenic	17	15134397	15134397	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_022489.4(INF2):c.395T>C (p.Leu132Pro)	INF2	Pathogenic/Likely pathogenic	14	105169445	105169445	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter)	IGHMBP2	Pathogenic/Likely pathogenic	11	68704310	68704310	C	T	criteria provided, multiple submitters, no conflicts	-