エメリー・ドレイフス型筋ジストロフィー

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.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.1609-1G>A	LMNA	Pathogenic/Likely pathogenic	1	156107444	156107444	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017570
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
Deletion	NC_000001.11:g.(?_156137634)_(156139126_?)del	LMNA	Likely pathogenic	1	156107425	156108917	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.1608+5G>A	LMNA	Likely pathogenic	1	156107028	156107028	G	A	criteria provided, single submitter	ClinGen:CA658795540
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.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.1588C>T (p.Leu530Phe)	LMNA	Pathogenic/Likely pathogenic	1	156107003	156107003	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA342823527
Indel	NM_170707.4(LMNA):c.1587_1588delinsCT (p.Leu530Phe)	LMNA	Pathogenic	1	156107002	156107003	TC	CT	criteria provided, single submitter	-
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