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.419T>C (p.Leu140Pro)	LMNA	Likely pathogenic	1	156100470	156100470	T	C	criteria provided, single submitter	ClinGen:CA018070,UniProtKB:P02545#VAR_039760
single nucleotide variant	NM_170707.4(LMNA):c.513G>A (p.Lys171=)	LMNA	Likely pathogenic	1	156100564	156100564	G	A	criteria provided, single submitter	ClinGen:CA018192
single nucleotide variant	NM_170707.4(LMNA):c.575A>T (p.Asp192Val)	LMNA	Likely pathogenic	1	156104255	156104255	A	T	criteria provided, single submitter	ClinGen:CA018263
single nucleotide variant	NM_170707.4(LMNA):c.608A>T (p.Glu203Val)	LMNA	Likely pathogenic	1	156104288	156104288	A	T	criteria provided, single submitter	ClinGen:CA018303
Deletion	NM_170707.4(LMNA):c.626del (p.Asn209fs)	LMNA	Likely pathogenic	1	156104305	156104305	GA	G	criteria provided, single submitter	ClinGen:CA018329
single nucleotide variant	NM_170707.4(LMNA):c.656A>C (p.Lys219Thr)	LMNA	Likely pathogenic	1	156104612	156104612	A	C	criteria provided, single submitter	ClinGen:CA018400
single nucleotide variant	NM_170707.4(LMNA):c.694G>C (p.Gly232Arg)	LMNA	Likely pathogenic	1	156104650	156104650	G	C	criteria provided, single submitter	ClinGen:CA018465
single nucleotide variant	NM_170707.4(LMNA):c.73C>T (p.Arg25Cys)	LMNA	Likely pathogenic	1	156084782	156084782	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018538
single nucleotide variant	NM_170707.4(LMNA):c.74G>C (p.Arg25Pro)	LMNA	Likely pathogenic	1	156084783	156084783	G	C	criteria provided, single submitter	ClinGen:CA018579,UniProtKB:P02545#VAR_039747
single nucleotide variant	NM_170707.4(LMNA):c.99G>C (p.Glu33Asp)	LMNA	Likely pathogenic	1	156084808	156084808	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA018946,UniProtKB:P02545#VAR_039750