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
Deletion	NM_170707.4(LMNA):c.763del (p.Gln255fs)	LMNA	Likely pathogenic	1	156104718	156104718	AC	A	criteria provided, single submitter	ClinGen:CA018586
single nucleotide variant	NM_170707.4(LMNA):c.784G>T (p.Glu262Ter)	LMNA	Likely pathogenic	1	156104740	156104740	G	T	criteria provided, single submitter	ClinGen:CA018633
single nucleotide variant	NM_170707.4(LMNA):c.863C>G (p.Ala288Gly)	LMNA	Likely pathogenic	1	156105030	156105030	C	G	criteria provided, single submitter	ClinGen:CA018775
single nucleotide variant	NM_170707.4(LMNA):c.1158-2A>G	LMNA	Likely pathogenic	1	156106003	156106003	A	G	criteria provided, single submitter	ClinGen:CA016749
single nucleotide variant	NM_170707.4(LMNA):c.1163G>A (p.Arg388His)	LMNA	Likely pathogenic	1	156106010	156106010	G	A	criteria provided, single submitter	ClinGen:CA016807,UniProtKB:P02545#VAR_070180
single nucleotide variant	NM_170707.4(LMNA):c.1337A>T (p.Asp446Val)	LMNA	Likely pathogenic	1	156106184	156106184	A	T	criteria provided, single submitter	ClinGen:CA017008,UniProtKB:P02545#VAR_039780
single nucleotide variant	NM_170707.4(LMNA):c.1399T>C (p.Trp467Arg)	LMNA	Likely pathogenic	1	156106730	156106730	T	C	criteria provided, single submitter	ClinGen:CA017177,UniProtKB:P02545#VAR_064974
single nucleotide variant	NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly)	LMNA	Likely pathogenic	1	156106742	156106742	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA017206
single nucleotide variant	NM_170707.4(LMNA):c.1494G>T (p.Trp498Cys)	LMNA	Likely pathogenic	1	156106909	156106909	G	T	criteria provided, single submitter	ClinGen:CA017364
single nucleotide variant	NM_170707.4(LMNA):c.274C>T (p.Leu92Phe)	LMNA	Likely pathogenic	1	156084983	156084983	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017846,UniProtKB:P02545#VAR_067257