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.1458G>T (p.Lys486Asn)	LMNA	Pathogenic	1	156106789	156106789	G	T	criteria provided, single submitter	ClinGen:CA017283,UniProtKB:P02545#VAR_009994
single nucleotide variant	NM_170707.4(LMNA):c.1488+5G>C	LMNA	Pathogenic	1	156106824	156106824	G	C	criteria provided, single submitter	ClinGen:CA017326,OMIM:150330.0039
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.1583C>A (p.Thr528Lys)	LMNA	Pathogenic/Likely pathogenic	1	156106998	156106998	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017504,UniProtKB:P02545#VAR_009996
single nucleotide variant	NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg)	LMNA	Pathogenic/Likely pathogenic	1	156106998	156106998	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA017510,UniProtKB:P02545#VAR_039785
single nucleotide variant	NM_170707.4(LMNA):c.1608+1G>A	LMNA	Pathogenic	1	156107024	156107024	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017556
single nucleotide variant	NM_170707.4(LMNA):c.1608+5G>C	LMNA	Pathogenic	1	156107028	156107028	G	C	criteria provided, single submitter	ClinGen:CA017561,OMIM:150330.0019
single nucleotide variant	NM_170707.4(LMNA):c.1609-3C>G	LMNA	Pathogenic/Likely pathogenic	1	156107442	156107442	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA017576
single nucleotide variant	NM_170707.4(LMNA):c.1619T>C (p.Met540Thr)	LMNA	Pathogenic	1	156107455	156107455	T	C	criteria provided, single submitter	ClinGen:CA017588
single nucleotide variant	NM_170707.4(LMNA):c.1621C>A (p.Arg541Ser)	LMNA	Pathogenic	1	156107457	156107457	C	A	criteria provided, single submitter	ClinGen:CA017601,UniProtKB:P02545#VAR_039788