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_170707.4(LMNA):c.154C>G (p.Leu52Val)	LMNA	Likely pathogenic	1	156084863	156084863	C	G	criteria provided, single submitter	ClinGen:CA017415
single nucleotide variant	NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys)	LMNA	Pathogenic/Likely pathogenic	1	156107457	156107457	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017615,UniProtKB:P02545#VAR_039786
Duplication	NM_170707.4(LMNA):c.348dup (p.Lys117fs)	LMNA	Pathogenic	1	156085056	156085057	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA017938
single nucleotide variant	NM_170707.4(LMNA):c.448A>C (p.Thr150Pro)	LMNA	Pathogenic/Likely pathogenic	1	156100499	156100499	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA018114,UniProtKB:P02545#VAR_039762
single nucleotide variant	NM_170707.4(LMNA):c.513+1G>C	LMNA	Likely pathogenic	1	156100565	156100565	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA018184
single nucleotide variant	NM_170707.4(LMNA):c.607G>A (p.Glu203Lys)	LMNA	Pathogenic/Likely pathogenic	1	156104287	156104287	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018291,UniProtKB:P02545#VAR_039767
single nucleotide variant	NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)	LMNA	Pathogenic	1	156104629	156104629	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018429
single nucleotide variant	NM_170707.4(LMNA):c.700C>T (p.Gln234Ter)	LMNA	Pathogenic	1	156104656	156104656	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018478
single nucleotide variant	NM_170707.4(LMNA):c.745C>G (p.Arg249Gly)	LMNA	Likely pathogenic	1	156104701	156104701	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018552
Deletion	NM_170707.4(LMNA):c.763del (p.Gln255fs)	LMNA	Likely pathogenic	1	156104718	156104718	AC	A	criteria provided, single submitter	ClinGen:CA018586